{"id": "MONDO:0023659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 96", "equivalent_identifiers": ["MONDO:0023659", "DOID:0070377", "OMIM:619340", "UMLS:C5543446", "medgen:1780167"], "information_content": 100.0}
{"id": "MONDO:0018097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "West syndrome", "equivalent_identifiers": ["MONDO:0018097", "DOID:0050562", "DOID:2481", "orphanet:3451", "EFO:1000643", "UMLS:C0037769", "UMLS:C1527366", "MESH:D013036", "MEDDRA:10021750", "MEDDRA:10039371", "MEDDRA:10058893", "NCIT:C84788", "SNOMEDCT:1217008005", "SNOMEDCT:28055006", "medgen:11519", "icd11.foundation:1023597213", "HP:0011097"], "information_content": 85.5}
{"id": "HP:0001518", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Light for dates", "equivalent_identifiers": ["HP:0001518", "EFO:0003965", "NCIT:C114934", "NCIT:C114935", "UMLS:C0024032", "UMLS:C0235991", "UMLS:C0282667", "UMLS:C0302511", "UMLS:C0456060", "UMLS:C1313876", "MEDDRA:10004958", "MEDDRA:10004959", "MEDDRA:10004961", "MEDDRA:10004962", "MEDDRA:10041093", "MEDDRA:10047892", "SNOMEDCT:189445003", "SNOMEDCT:267258002", "SNOMEDCT:276610007", "SNOMEDCT:276611006", "MESH:D019102"], "information_content": 89.4}
{"id": "HP:0032792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tonic seizure", "equivalent_identifiers": ["HP:0032792", "NCIT:C50776", "UMLS:C0270844", "MEDDRA:10043994", "MEDDRA:10043996", "MEDDRA:10043997"], "information_content": 89.4}
{"id": "HP:0011451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primary microcephaly", "equivalent_identifiers": ["HP:0011451", "NCIT:C128732", "UMLS:C2677180", "UMLS:C4020749", "SNOMEDCT:1148758003"], "information_content": 100.0}
{"id": "HP:0010851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with burst suppression", "equivalent_identifiers": ["HP:0010851", "UMLS:C1969156"], "information_content": 100.0}
{"id": "MONDO:0015193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrops fetalis", "equivalent_identifiers": ["MONDO:0015193", "orphanet:1041", "UMLS:C0020305", "MESH:D015160", "MEDDRA:10020526", "MEDDRA:10020529", "NCIT:C84767", "SNOMEDCT:276508000", "medgen:6947", "HP:0001789"], "information_content": 88.2}
{"id": "HP:0200134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epileptic encephalopathy", "equivalent_identifiers": ["HP:0200134", "UMLS:C0543888", "MEDDRA:10077380", "SNOMEDCT:723125008"], "information_content": 100.0}
{"id": "MONDO:0100130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult acute respiratory distress syndrome", "equivalent_identifiers": ["MONDO:0100130", "DOID:11394", "orphanet:70578", "UMLS:C0035222", "UMLS:C0852283", "UMLS:C1368020", "UMLS:C4281993", "MESH:D012128", "MEDDRA:10000036", "MEDDRA:10001052", "MEDDRA:10001407", "MEDDRA:10001409", "MEDDRA:10001410", "MEDDRA:10003083", "MEDDRA:10028973", "MEDDRA:10038688", "MEDDRA:10038691", "MEDDRA:10040579", "MEDDRA:10042787", "MEDDRA:10042839", "SNOMEDCT:1179627006", "SNOMEDCT:196153002", "SNOMEDCT:67782005", "medgen:20540", "icd11.foundation:1466842111", "ICD10:J80", "HP:0002643"], "information_content": 92.8}
{"id": "MONDO:0012204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial pseudohyperkalemia", "equivalent_identifiers": ["MONDO:0012204", "OMIM:609153", "orphanet:90044", "UMLS:C1836705", "UMLS:C4273970", "MESH:C563785", "SNOMEDCT:717254007", "medgen:324588", "icd11.foundation:1653996588"], "information_content": 100.0}
{"id": "HP:0002378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand tremor", "equivalent_identifiers": ["HP:0002378", "UMLS:C0239842", "MEDDRA:10044577"], "information_content": 100.0}
{"id": "HP:0003324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized muscle weakness", "equivalent_identifiers": ["HP:0003324", "NCIT:C78323", "UMLS:C0746674", "MEDDRA:10062571", "MEDDRA:10062572"], "information_content": 100.0}
{"id": "HP:0002153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperkalemia", "equivalent_identifiers": ["HP:0002153", "NCIT:C37968", "UMLS:C0020461", "UMLS:C5700154", "MEDDRA:10020646", "MEDDRA:10020647", "MEDDRA:10020735", "MEDDRA:10020736", "SNOMEDCT:14140009", "SNOMEDCT:166689004", "SNOMEDCT:238142003", "MESH:D006947"], "information_content": 89.4}
{"id": "HP:0003394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle spasm", "equivalent_identifiers": ["HP:0003394", "EFO:0009846", "NCIT:C34827", "UMLS:C0026821", "MEDDRA:10011285", "MEDDRA:10011291", "MEDDRA:10011293", "MEDDRA:10028294", "MEDDRA:10028295", "SNOMEDCT:55300003", "MESH:D009120"], "information_content": 86.3}
{"id": "MONDO:0003664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia", "equivalent_identifiers": ["MONDO:0003664", "DOID:583", "UMLS:C0002878", "MESH:D000743", "MEDDRA:10002045", "MEDDRA:10002284", "MEDDRA:10018916", "MEDDRA:10018921", "MEDDRA:10019493", "MEDDRA:10019494", "MEDDRA:10055193", "NCIT:C34376", "SNOMEDCT:61261009", "medgen:1916", "ICD10:D55-D59", "HP:0001878"], "information_content": 70.0}
{"id": "MONDO:0016122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodic paralysis", "equivalent_identifiers": ["MONDO:0016122", "orphanet:206976", "UMLS:C1279412", "SNOMEDCT:198030008", "medgen:488958", "icd11.foundation:577112387", "HP:0003768"], "information_content": 83.1}
{"id": "MONDO:0013576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recurrent infections associated with rare immunoglobulin isotypes deficiency", "equivalent_identifiers": ["MONDO:0013576", "OMIM:614102", "orphanet:183675", "UMLS:C3279824", "MESH:C564131", "medgen:481454"], "information_content": 100.0}
{"id": "MONDO:0001673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea", "equivalent_identifiers": ["MONDO:0001673", "DOID:13250", "UMLS:C0011991", "UMLS:C1290807", "MESH:D003967", "MEDDRA:10012727", "MEDDRA:10012732", "MEDDRA:10012735", "MEDDRA:10012745", "MEDDRA:10087970", "MEDDRA:10087971", "NCIT:C2987", "SNOMEDCT:128333008", "SNOMEDCT:267060006", "SNOMEDCT:62315008", "medgen:713159", "HP:0002014"], "information_content": 63.5}
{"id": "HP:6000261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent circulating immunoglobulin kappa chain", "equivalent_identifiers": ["HP:6000261", "UMLS:C5937079"], "information_content": 100.0}
{"id": "HP:0002719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent infections", "equivalent_identifiers": ["HP:0002719", "UMLS:C0239998", "UMLS:C0521978", "MEDDRA:10067860", "SNOMEDCT:102463001", "SNOMEDCT:451991000124106"], "information_content": 67.9}
{"id": "HP:0002205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent respiratory infections", "equivalent_identifiers": ["HP:0002205", "UMLS:C3806482"], "information_content": 79.0}
{"id": "MONDO:0044751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic diarrheal disease", "equivalent_identifiers": ["MONDO:0044751", "UMLS:C0401151", "MEDDRA:10066533", "MEDDRA:10066534", "MEDDRA:10066556", "MEDDRA:10066557", "SNOMEDCT:236071009", "medgen:96036", "HP:0002028"], "information_content": 95.4}
{"id": "MONDO:0859169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White-Kernohan syndrome", "equivalent_identifiers": ["MONDO:0859169", "OMIM:619426", "UMLS:C5543635", "medgen:1785087"], "information_content": 100.0}
{"id": "HP:0000286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epicanthus", "equivalent_identifiers": ["HP:0000286", "UMLS:C0678230"], "information_content": 89.4}
{"id": "HP:0010804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tented mouth", "equivalent_identifiers": ["HP:0010804", "UMLS:C1839767", "UMLS:C1850072", "UMLS:C1853383"], "information_content": 100.0}
{"id": "HP:0006989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic corpus callosum", "equivalent_identifiers": ["HP:0006989", "UMLS:C0431369"], "information_content": 100.0}
{"id": "HP:0001252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypotonia", "equivalent_identifiers": ["HP:0001252", "NCIT:C87070", "UMLS:C0026827", "UMLS:C1842364", "UMLS:C5539400", "MEDDRA:10011973", "MEDDRA:10021118", "MEDDRA:10028327", "MEDDRA:10028344", "MEDDRA:10081180", "SNOMEDCT:398151007", "SNOMEDCT:398152000", "MESH:D009123"], "information_content": 78.5}
{"id": "HP:0003196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short nose", "equivalent_identifiers": ["HP:0003196", "UMLS:C0426414", "UMLS:C1854114", "SNOMEDCT:249310005"], "information_content": 100.0}
{"id": "HP:0000085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fused Kidney", "equivalent_identifiers": ["HP:0000085", "NCIT:C98947", "UMLS:C0221353", "UMLS:C0266305", "MEDDRA:10020393", "SNOMEDCT:204984002", "SNOMEDCT:41729002", "MESH:D000069337"], "information_content": 100.0}
{"id": "MONDO:0007186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heartburn", "equivalent_identifiers": ["MONDO:0007186", "DOID:8534", "OMIM:109350", "EFO:0003948", "UMLS:C0017168", "UMLS:C0018834", "UMLS:C3813607", "UMLS:C4317146", "MESH:D005764", "MESH:D006356", "MEDDRA:10015389", "MEDDRA:10017884", "MEDDRA:10017885", "MEDDRA:10017924", "MEDDRA:10018203", "MEDDRA:10019326", "MEDDRA:10030182", "MEDDRA:10037676", "MEDDRA:10066874", "MEDDRA:10088006", "NCIT:C113396", "NCIT:C26781", "NCIT:C34670", "NCIT:C92560", "SNOMEDCT:16331000", "SNOMEDCT:235595009", "SNOMEDCT:698065002", "SNOMEDCT:722884003", "medgen:6553", "ICD10:K21.9", "ICD9:530.81", "HP:0002020"], "information_content": 74.7}
{"id": "HP:0012745", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short palpebral fissure", "equivalent_identifiers": ["HP:0012745", "UMLS:C0423112", "SNOMEDCT:246802000"], "information_content": 90.9}
{"id": "MONDO:0004843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nystagmus", "equivalent_identifiers": ["MONDO:0004843", "DOID:9650", "UMLS:C0028738", "MESH:D009759", "MEDDRA:10029864", "MEDDRA:10029868", "MEDDRA:10029869", "NCIT:C3282", "SNOMEDCT:563001", "medgen:45166", "ICD10:H55.0", "ICD9:379.50", "HP:0000639"], "information_content": 79.9}
{"id": "HP:0020045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esodeviation", "equivalent_identifiers": ["HP:0020045", "UMLS:C4551734"], "information_content": 81.7}
{"id": "HP:0000637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long palpebral fissure", "equivalent_identifiers": ["HP:0000637", "UMLS:C1849340"], "information_content": 100.0}
{"id": "HP:0000278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retrognathia", "equivalent_identifiers": ["HP:0000278", "UMLS:C0035353", "UMLS:C3494422", "MEDDRA:10051821", "SNOMEDCT:109515000", "MESH:D063173"], "information_content": 89.4}
{"id": "MONDO:0001071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability", "equivalent_identifiers": ["MONDO:0001071", "DOID:1059", "UMLS:C0025362", "UMLS:C0423903", "UMLS:C0917816", "UMLS:C1843367", "UMLS:C3714756", "UMLS:C4020876", "MESH:D008607", "MEDDRA:10012131", "MEDDRA:10027351", "MEDDRA:10027378", "MEDDRA:10038775", "MEDDRA:10046009", "MEDDRA:10067989", "MEDDRA:10077548", "MEDDRA:10078089", "NCIT:C84392", "NCIT:C97250", "SNOMEDCT:110359009", "SNOMEDCT:228156007", "SNOMEDCT:247578003", "SNOMEDCT:91138005", "medgen:811461", "HP:0001249"], "information_content": 61.1}
{"id": "HP:0020206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simple ear", "equivalent_identifiers": ["HP:0020206"], "information_content": 100.0}
{"id": "MONDO:0000158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip dysplasia", "equivalent_identifiers": ["MONDO:0000158", "DOID:0060930", "OMIM.PS:142700", "EFO:1000648", "UMLS:C0431952", "UMLS:C3280020", "UMLS:C4551649", "UMLS:C4732734", "MESH:D000082602", "MEDDRA:10073767", "NCIT:C119752", "SNOMEDCT:52781008", "medgen:1640560", "HP:0001385"], "information_content": 90.9}
{"id": "HP:0000574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick eyebrow", "equivalent_identifiers": ["HP:0000574", "UMLS:C1853487"], "information_content": 100.0}
{"id": "MONDO:0007147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obstructive sleep apnea syndrome", "equivalent_identifiers": ["MONDO:0007147", "DOID:0050848", "OMIM:107650", "EFO:0003918", "UMLS:C0520679", "MESH:D020181", "MEDDRA:10029983", "MEDDRA:10055577", "MEDDRA:10085837", "MEDDRA:10085844", "MEDDRA:10090132", "MEDDRA:10090133", "NCIT:C116337", "NCIT:C27168", "SNOMEDCT:78275009", "medgen:101045", "ICD10:G47.33", "ICD9:327.23", "HP:0002870"], "information_content": 95.4}
{"id": "HP:0000293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Full cheeks", "equivalent_identifiers": ["HP:0000293", "UMLS:C1866231", "UMLS:C2748653", "UMLS:C3806443", "UMLS:C4280647", "UMLS:C4280648"], "information_content": 100.0}
{"id": "HP:0001382", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joint hypermobility", "equivalent_identifiers": ["HP:0001382", "UMLS:C0022410", "UMLS:C0158359", "UMLS:C1844820", "UMLS:C1862377", "UMLS:C5936709", "MEDDRA:10024045", "MEDDRA:10024452", "MEDDRA:10064931", "SNOMEDCT:27911000", "SNOMEDCT:298181000", "SNOMEDCT:67374007", "SNOMEDCT:788453008", "MESH:D007593"], "information_content": 80.9}
{"id": "HP:0011800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small midface", "equivalent_identifiers": ["HP:0011800", "UMLS:C1853242", "UMLS:C2673410", "UMLS:C4280320", "UMLS:C4280321"], "information_content": 95.4}
{"id": "MONDO:0008603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigonocephaly 1", "equivalent_identifiers": ["MONDO:0008603", "OMIM:190440", "EFO:0008511", "UMLS:C0432122", "UMLS:C1860819", "MESH:C562951", "SNOMEDCT:109409003", "medgen:98473", "HP:0011330"], "information_content": 100.0}
{"id": "HP:0000601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypotelorism", "equivalent_identifiers": ["HP:0000601", "UMLS:C0424711", "MEDDRA:10057855", "MEDDRA:10057860", "SNOMEDCT:44593008"], "information_content": 95.4}
{"id": "MONDO:0008162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otitis media, susceptibility to", "equivalent_identifiers": ["MONDO:0008162", "OMIM:166760", "UMLS:C0747085", "UMLS:C1833692", "MEDDRA:10066713", "medgen:318936", "HP:0000403"], "information_content": 100.0}
{"id": "HP:0000527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long eyelashes", "equivalent_identifiers": ["HP:0000527", "UMLS:C1853738"], "information_content": 89.4}
{"id": "HP:0000400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrotia", "equivalent_identifiers": ["HP:0000400", "UMLS:C0152421", "UMLS:C0554972", "UMLS:C1835581", "UMLS:C1848570", "UMLS:C1850189", "UMLS:C1855062", "UMLS:C1860838", "MEDDRA:10025396", "SNOMEDCT:275480001", "SNOMEDCT:69056000"], "information_content": 87.2}
{"id": "HP:0000369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-set ears", "equivalent_identifiers": ["HP:0000369", "UMLS:C0239234", "MEDDRA:10024929", "SNOMEDCT:95515009"], "information_content": 95.4}
{"id": "MONDO:0005510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydronephrosis", "equivalent_identifiers": ["MONDO:0005510", "DOID:11111", "EFO:0005562", "UMLS:C0020295", "MESH:D006869", "MEDDRA:10020524", "NCIT:C26796", "SNOMEDCT:43064006", "medgen:42531", "ICD10:N13.30", "ICD9:591", "HP:0000126"], "information_content": 86.3}
{"id": "HP:0000143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectovaginal fistula", "equivalent_identifiers": ["HP:0000143", "NCIT:C172026", "UMLS:C0034895", "MEDDRA:10051097", "SNOMEDCT:65619001", "MESH:D012006"], "information_content": 100.0}
{"id": "HP:0000582", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upslanted palpebral fissure", "equivalent_identifiers": ["HP:0000582", "UMLS:C0423109", "SNOMEDCT:246799009"], "information_content": 100.0}
{"id": "HP:0000463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anteverted nares", "equivalent_identifiers": ["HP:0000463", "UMLS:C1840077", "SNOMEDCT:708670007"], "information_content": 100.0}
{"id": "HP:0034003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad medial eyebrow", "equivalent_identifiers": ["HP:0034003", "UMLS:C5558377"], "information_content": 100.0}
{"id": "MONDO:0011918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anxiety", "equivalent_identifiers": ["MONDO:0011918", "OMIM:607834", "EFO:0005230", "UMLS:C0003467", "UMLS:C4020884", "MESH:D001007", "MEDDRA:10002855", "MEDDRA:10002865", "MEDDRA:10016323", "MEDDRA:10037935", "NCIT:C26696", "SNOMEDCT:48694002", "medgen:1613", "icd11.foundation:2027043655", "HP:0000739"], "information_content": 81.7}
{"id": "HP:0000219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin upper lip vermilion", "equivalent_identifiers": ["HP:0000219", "UMLS:C1865017"], "information_content": 92.8}
{"id": "HP:0000537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epicanthus inversus", "equivalent_identifiers": ["HP:0000537", "UMLS:C1303003", "SNOMEDCT:400956000"], "information_content": 100.0}
{"id": "HP:0001545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anteriorly placed anus", "equivalent_identifiers": ["HP:0001545", "UMLS:C1838705"], "information_content": 100.0}
{"id": "MONDO:0013300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrostomia", "equivalent_identifiers": ["MONDO:0013300", "OMIM:613545", "orphanet:141276", "UMLS:C0024433", "UMLS:C3150792", "MESH:D008265", "MEDDRA:10025395", "SNOMEDCT:40159009", "medgen:462142", "icd11.foundation:1460924303", "HP:0000154"], "information_content": 95.4}
{"id": "HP:0000430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underdeveloped nasal alae", "equivalent_identifiers": ["HP:0000430", "UMLS:C1834055"], "information_content": 92.8}
{"id": "HP:0000072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hydroureter", "equivalent_identifiers": ["HP:0000072", "NCIT:C26927", "UMLS:C0521620", "UMLS:C1306529", "UMLS:C4020897", "MEDDRA:10013009", "MEDDRA:10020533", "MEDDRA:10046399", "MEDDRA:10088618", "SNOMEDCT:69758005", "SNOMEDCT:95576001"], "information_content": 90.9}
{"id": "HP:0005280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depressed nasal bridge", "equivalent_identifiers": ["HP:0005280", "UMLS:C1836542", "UMLS:C3550546", "UMLS:C4280495"], "information_content": 95.4}
{"id": "HP:0011228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal eyebrow", "equivalent_identifiers": ["HP:0011228", "UMLS:C3277019"], "information_content": 100.0}
{"id": "MONDO:0008537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telecanthus", "equivalent_identifiers": ["MONDO:0008537", "OMIM:187350", "orphanet:98575", "UMLS:C0423113", "MESH:C562941", "SNOMEDCT:246803005", "medgen:140836", "icd11.foundation:210416501", "HP:0000506"], "information_content": 85.5}
{"id": "MONDO:0005420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism", "equivalent_identifiers": ["MONDO:0005420", "DOID:1459", "EFO:0004705", "UMLS:C0020676", "MESH:D007037", "MEDDRA:10021114", "MEDDRA:10043686", "MEDDRA:10045920", "MEDDRA:10077221", "NCIT:C26800", "SNOMEDCT:40930008", "medgen:6991", "icd11.foundation:1722092627", "ICD9:244.9", "HP:0000821"], "information_content": 75.2}
{"id": "HP:0000664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synophrys", "equivalent_identifiers": ["HP:0000664", "UMLS:C0431447", "SNOMEDCT:253207002"], "information_content": 100.0}
{"id": "MONDO:0005302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "attention deficit hyperactivity disorder, inattentive type", "equivalent_identifiers": ["MONDO:0005302", "DOID:1094", "UMLS:C0041671", "UMLS:C0339002", "UMLS:C1263846", "UMLS:C1321905", "MESH:D001289", "MEDDRA:10003731", "MEDDRA:10003733", "MEDDRA:10003734", "MEDDRA:10003735", "MEDDRA:10003736", "MEDDRA:10003737", "MEDDRA:10020555", "MEDDRA:10020658", "MEDDRA:10020659", "MEDDRA:10027642", "MEDDRA:10042816", "MEDDRA:10064104", "MEDDRA:10068452", "MEDDRA:10068453", "MEDDRA:10083622", "NCIT:C35092", "SNOMEDCT:35253001", "SNOMEDCT:406506008", "SNOMEDCT:7461003", "medgen:473060", "HP:0007018"], "information_content": 95.4}
{"id": "MONDO:0011122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity", "equivalent_identifiers": ["MONDO:0011122", "DOID:9970", "EFO:0001073", "UMLS:C0028754", "UMLS:C1563743", "MESH:D009765", "MESH:D050154", "MEDDRA:10001293", "MEDDRA:10029883", "MEDDRA:10029885", "MEDDRA:10051361", "NCIT:C159658", "NCIT:C3283", "SNOMEDCT:414915002", "SNOMEDCT:414916001", "medgen:18127", "ICD10:E66.9", "ICD9:278.00", "HP:0001513"], "information_content": 75.8}
{"id": "MONDO:0012479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital malabsorptive diarrhea 4", "equivalent_identifiers": ["MONDO:0012479", "DOID:0060779", "OMIM:610370", "orphanet:83620", "UMLS:C1835888", "MESH:C563673", "SNOMEDCT:722392003", "medgen:372151"], "information_content": 100.0}
{"id": "HP:0002013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vomiting", "equivalent_identifiers": ["HP:0002013", "NCIT:C3442", "UMLS:C0042963", "MEDDRA:10014542", "MEDDRA:10047699", "MEDDRA:10047700", "MEDDRA:10047706", "SNOMEDCT:249497008", "SNOMEDCT:300359004", "SNOMEDCT:422400008", "MESH:D014839"], "information_content": 67.2}
{"id": "HP:0001508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undergrowth", "equivalent_identifiers": ["HP:0001508", "NCIT:C111659", "NCIT:C113099", "UMLS:C0231246", "UMLS:C2315100", "UMLS:C4531021", "MEDDRA:10036164", "MEDDRA:10047897", "SNOMEDCT:36440009", "SNOMEDCT:432788009"], "information_content": 84.2}
{"id": "HP:0004918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperchloremic metabolic acidosis", "equivalent_identifiers": ["HP:0004918", "UMLS:C1969073"], "information_content": 100.0}
{"id": "HP:0001944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dehydration", "equivalent_identifiers": ["HP:0001944", "UMLS:C0011175", "MEDDRA:10012174", "MEDDRA:10054198", "SNOMEDCT:34095006", "MESH:D003681"], "information_content": 81.7}
{"id": "MONDO:0012313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short QT syndrome type 2", "equivalent_identifiers": ["MONDO:0012313", "OMIM:609621", "UMLS:C1865019", "MESH:C566505", "medgen:355890"], "information_content": 100.0}
{"id": "HP:0012232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortened QT interval", "equivalent_identifiers": ["HP:0012232", "UMLS:C0151879", "MEDDRA:10014388", "MEDDRA:10037704", "MEDDRA:10037706", "MEDDRA:10040598", "SNOMEDCT:77867006"], "information_content": 100.0}
{"id": "MONDO:0000190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular fibrillation", "equivalent_identifiers": ["MONDO:0000190", "EFO:0004287", "UMLS:C0042510", "MESH:D014693", "MEDDRA:10016571", "MEDDRA:10016573", "MEDDRA:10034048", "MEDDRA:10047290", "MEDDRA:10047292", "MEDDRA:10047293", "NCIT:C50799", "SNOMEDCT:71908006", "medgen:21844", "icd11.foundation:1662472992", "HP:0001663"], "information_content": 85.5}
{"id": "HP:0001662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bradycardia", "equivalent_identifiers": ["HP:0001662", "NCIT:C37920", "UMLS:C0428977", "MEDDRA:10006093", "MEDDRA:10006095", "MEDDRA:10019301", "MEDDRA:10019305", "SNOMEDCT:48867003", "MESH:D001919"], "information_content": 92.8}
{"id": "MONDO:0004981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation", "equivalent_identifiers": ["MONDO:0004981", "DOID:0060224", "EFO:0000275", "UMLS:C0004238", "MESH:D001281", "MEDDRA:10001452", "MEDDRA:10003658", "MEDDRA:10003796", "MEDDRA:10016566", "NCIT:C50466", "SNOMEDCT:49436004", "medgen:445", "icd11.foundation:171698302", "ICD9:427.31", "HP:0005110"], "information_content": 79.6}
{"id": "HP:0001279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Syncope", "equivalent_identifiers": ["HP:0001279", "NCIT:C35053", "NCIT:C50857", "UMLS:C0039070", "MEDDRA:10016167", "MEDDRA:10016169", "MEDDRA:10034100", "MEDDRA:10042771", "MEDDRA:10042772", "SNOMEDCT:271594007", "SNOMEDCT:272030005", "SNOMEDCT:309585006", "MESH:D013575"], "information_content": 81.3}
{"id": "MONDO:0100042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac conduction defect", "equivalent_identifiers": ["MONDO:0100042", "OMIM:115080", "EFO:0004278", "UMLS:C0085298", "UMLS:C1861884", "MESH:C566172", "MESH:D016757", "MEDDRA:10049418", "NCIT:C50911", "SNOMEDCT:95281009", "medgen:78114", "HP:0001645"], "information_content": 92.8}
{"id": "MONDO:0008932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature centromere division", "equivalent_identifiers": ["MONDO:0008932", "OMIM:212790", "UMLS:C1859308", "medgen:349138"], "information_content": 100.0}
{"id": "HP:0001939", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of metabolism/homeostasis", "equivalent_identifiers": ["HP:0001939", "UMLS:C4021768"], "information_content": 41.9}
{"id": "MONDO:0012941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 25", "equivalent_identifiers": ["MONDO:0012941", "DOID:0110909", "OMIM:612567", "UMLS:C2675508", "MESH:C567251", "medgen:393403"], "information_content": 100.0}
{"id": "MONDO:0009172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enterocolitis", "equivalent_identifiers": ["MONDO:0009172", "OMIM:226150", "EFO:1001481", "UMLS:C0014356", "MESH:D004760", "MEDDRA:10014893", "NCIT:C79573", "SNOMEDCT:43752006", "medgen:4966", "HP:0004387"], "information_content": 89.4}
{"id": "HP:0033279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enterocutaneous fistula", "equivalent_identifiers": ["HP:0033279", "UMLS:C0341318", "MEDDRA:10051425", "SNOMEDCT:197247001"], "information_content": 100.0}
{"id": "MONDO:0005536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancolitis", "equivalent_identifiers": ["MONDO:0005536", "EFO:0005626", "UMLS:C0868908", "MEDDRA:10033573", "medgen:1720692", "HP:0033256"], "information_content": 100.0}
{"id": "HP:0002837", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent bronchitis", "equivalent_identifiers": ["HP:0002837", "UMLS:C0741796"], "information_content": 95.4}
{"id": "HP:0009789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perianal abscess", "equivalent_identifiers": ["HP:0009789", "NCIT:C99092", "UMLS:C0031019", "MEDDRA:10034447", "MEDDRA:10048428", "SNOMEDCT:82127005"], "information_content": 100.0}
{"id": "MONDO:0006552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "folliculitis", "equivalent_identifiers": ["MONDO:0006552", "DOID:4409", "EFO:1000702", "UMLS:C0016436", "MESH:D005499", "MEDDRA:10016936", "NCIT:C94408", "SNOMEDCT:13600006", "SNOMEDCT:721130001", "medgen:4752", "HP:0025084"], "information_content": 88.2}
{"id": "MONDO:0013361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital prothrombin deficiency", "equivalent_identifiers": ["MONDO:0013361", "DOID:2235", "OMIM:613679", "orphanet:325", "UMLS:C0272317", "UMLS:C3203356", "MESH:C562724", "MESH:D007020", "MEDDRA:10016076", "MEDDRA:10021085", "MEDDRA:10037045", "MEDDRA:10054431", "NCIT:C131737", "NCIT:C26799", "SNOMEDCT:33297000", "SNOMEDCT:73975000", "medgen:124425"], "information_content": 90.9}
{"id": "HP:0000132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Menorrhagia", "equivalent_identifiers": ["HP:0000132", "NCIT:C26829", "UMLS:C0025323", "MEDDRA:10005123", "MEDDRA:10015606", "MEDDRA:10019360", "MEDDRA:10020672", "MEDDRA:10020673", "MEDDRA:10027313", "MEDDRA:10027322", "MEDDRA:10027332", "MEDDRA:10027338", "MEDDRA:10036867", "MEDDRA:10085423", "SNOMEDCT:386692008", "MESH:D008595"], "information_content": 81.7}
{"id": "HP:0003010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged bleeding time", "equivalent_identifiers": ["HP:0003010", "UMLS:C0151529", "MEDDRA:10005138", "MEDDRA:10005140"], "information_content": 100.0}
{"id": "HP:0031364", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ecchymosis", "equivalent_identifiers": ["HP:0031364"], "information_content": 95.4}
{"id": "MONDO:0004431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemarthrosis", "equivalent_identifiers": ["MONDO:0004431", "DOID:801", "EFO:1001344", "UMLS:C0018924", "MESH:D006395", "MEDDRA:10018829", "MEDDRA:10019409", "MEDDRA:10019417", "MEDDRA:10022750", "MEDDRA:10055292", "MEDDRA:10059609", "MEDDRA:10060469", "SNOMEDCT:81808003", "medgen:5479", "ICD10:M25.0", "ICD9:719.1", "HP:0005261"], "information_content": 95.4}
{"id": "HP:0008151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "INR Increased", "equivalent_identifiers": ["HP:0008151", "NCIT:C78366", "UMLS:C0151872", "UMLS:C0853225", "MEDDRA:10009741", "MEDDRA:10022402", "MEDDRA:10022595", "MEDDRA:10037046", "MEDDRA:10037051", "MEDDRA:10037061", "MEDDRA:10037063", "MEDDRA:10037261", "MEDDRA:10037262", "MEDDRA:10037818", "MEDDRA:10062459", "SNOMEDCT:313341008", "SNOMEDCT:409674002"], "information_content": 100.0}
{"id": "HP:0000978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Easy Bruising", "equivalent_identifiers": ["HP:0000978", "NCIT:C119027", "NCIT:C26758", "UMLS:C0013491", "UMLS:C0423798", "MEDDRA:10014079", "MEDDRA:10014080", "MEDDRA:10014082", "MEDDRA:10021688", "SNOMEDCT:302227002", "SNOMEDCT:424131007", "SNOMEDCT:425075004", "SNOMEDCT:77643000", "MESH:D004438"], "information_content": 92.8}
{"id": "HP:0000421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epistaxis", "equivalent_identifiers": ["HP:0000421", "EFO:0003895", "NCIT:C26766", "UMLS:C0014591", "UMLS:C4531300", "MEDDRA:10005124", "MEDDRA:10015090", "MEDDRA:10018986", "MEDDRA:10019561", "MEDDRA:10028723", "MEDDRA:10029792", "MEDDRA:10029793", "MEDDRA:10029802", "MEDDRA:10087494", "SNOMEDCT:12441001", "SNOMEDCT:249366005", "MESH:D004844"], "information_content": 70.8}
{"id": "HP:0002239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal hemorrhage", "equivalent_identifiers": ["HP:0002239", "NCIT:C48592", "UMLS:C0017181", "MEDDRA:10005116", "MEDDRA:10017870", "MEDDRA:10017871", "MEDDRA:10017878", "MEDDRA:10017935", "MEDDRA:10017936", "MEDDRA:10017955", "MEDDRA:10017956", "MEDDRA:10017960", "MEDDRA:10018016", "MEDDRA:10018230", "MEDDRA:10018232", "MEDDRA:10018233", "MEDDRA:10018243", "MEDDRA:10018991", "MEDDRA:10018992", "MEDDRA:10019543", "MEDDRA:10019566", "MEDDRA:10052742", "MEDDRA:10055270", "MEDDRA:10055809", "SNOMEDCT:74474003", "MESH:D006471"], "information_content": 64.4}
{"id": "HP:0000225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gingival bleeding", "equivalent_identifiers": ["HP:0000225", "UMLS:C0017565", "UMLS:C1533849", "MEDDRA:10005118", "MEDDRA:10018276", "MEDDRA:10018293", "MEDDRA:10018771", "MEDDRA:10018778", "MEDDRA:10018779", "MEDDRA:10019544", "MEDDRA:10019545", "MEDDRA:10055796", "MEDDRA:10055797", "MEDDRA:10055810", "MEDDRA:10055811", "MEDDRA:10072705", "MEDDRA:10072706", "MEDDRA:10087488", "MEDDRA:10087489", "MEDDRA:10087530", "SNOMEDCT:86276007", "MESH:D005884"], "information_content": 100.0}
{"id": "HP:0003645", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged partial thromboplastin time", "equivalent_identifiers": ["HP:0003645", "NCIT:C27028", "UMLS:C0240671", "MEDDRA:10000634", "MEDDRA:10000636", "MEDDRA:10003066", "MEDDRA:10003067", "MEDDRA:10034094", "MEDDRA:10037276", "SNOMEDCT:409675001"], "information_content": 100.0}
{"id": "MONDO:0013584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory neuropathy-deafness-dementia syndrome", "equivalent_identifiers": ["MONDO:0013584", "DOID:0070158", "OMIM:614116", "orphanet:456318", "UMLS:C3279885", "MESH:C580162", "SNOMEDCT:860812002", "medgen:481515"], "information_content": 100.0}
{"id": "HP:0001265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyporeflexia", "equivalent_identifiers": ["HP:0001265", "UMLS:C0700078", "MEDDRA:10043245", "SNOMEDCT:405946002"], "information_content": 84.2}
{"id": "HP:0002059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral atrophy", "equivalent_identifiers": ["HP:0002059", "UMLS:C0235946", "UMLS:C4020860", "MEDDRA:10008096", "SNOMEDCT:278849000"], "information_content": 82.6}
{"id": "MONDO:0005365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness", "equivalent_identifiers": ["MONDO:0005365", "EFO:0001063", "EFO:0004238", "UMLS:C0011053", "UMLS:C0018772", "UMLS:C0339789", "UMLS:C1384666", "UMLS:C3665473", "UMLS:C3887873", "MESH:D003638", "MESH:D034381", "MEDDRA:10010431", "MEDDRA:10011878", "MEDDRA:10011879", "MEDDRA:10011880", "MEDDRA:10011882", "MEDDRA:10011892", "MEDDRA:10019241", "MEDDRA:10019245", "MEDDRA:10019246", "MEDDRA:10019247", "MEDDRA:10019869", "MEDDRA:10029439", "MEDDRA:10045726", "MEDDRA:10045900", "MEDDRA:10048865", "MEDDRA:10050010", "MEDDRA:10050564", "MEDDRA:10052556", "MEDDRA:10067879", "MEDDRA:10089132", "NCIT:C27643", "NCIT:C27644", "NCIT:C35731", "NCIT:C36193", "NCIT:C50576", "SNOMEDCT:103276001", "SNOMEDCT:15188001", "SNOMEDCT:162344009", "SNOMEDCT:343087000", "SNOMEDCT:95828007", "medgen:235586", "HP:0000365"], "information_content": 64.6}
{"id": "MONDO:0001152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amnesia", "equivalent_identifiers": ["MONDO:0001152", "DOID:10914", "DOID:4544", "EFO:0001072", "EFO:1001454", "UMLS:C0002622", "UMLS:C0002625", "UMLS:C0233794", "UMLS:C0542476", "UMLS:C0751295", "UMLS:C1963167", "UMLS:C3887551", "MESH:D000647", "MEDDRA:10001949", "MEDDRA:10001952", "MEDDRA:10001954", "MEDDRA:10001957", "MEDDRA:10017060", "MEDDRA:10024871", "MEDDRA:10027171", "MEDDRA:10027172", "MEDDRA:10027174", "MEDDRA:10027175", "MEDDRA:10027176", "MEDDRA:10027178", "MEDDRA:10061423", "NCIT:C2867", "NCIT:C46084", "NCIT:C55427", "NCIT:C78444", "SNOMEDCT:3298001", "SNOMEDCT:386807006", "SNOMEDCT:48167000", "SNOMEDCT:55533009", "medgen:1882", "icd11.foundation:386330688", "ICD10:R41.3", "ICD9:294.0", "HP:0002354"], "information_content": 84.2}
{"id": "HP:0001262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Somnolence", "equivalent_identifiers": ["HP:0001262", "NCIT:C26754", "UMLS:C2830004", "UMLS:C4551761", "MEDDRA:10015595", "MEDDRA:10041349", "MESH:D000077260"], "information_content": 95.4}
{"id": "HP:0002460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal muscle weakness", "equivalent_identifiers": ["HP:0002460", "UMLS:C0427065", "UMLS:C1864696", "SNOMEDCT:249942005"], "information_content": 85.5}
{"id": "MONDO:0000437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ataxia", "equivalent_identifiers": ["MONDO:0000437", "DOID:0050753", "orphanet:102002", "UMLS:C0007758", "MESH:D002524", "MEDDRA:10003592", "MEDDRA:10008025", "NCIT:C82341", "SNOMEDCT:85102008", "medgen:849", "HP:0001251"], "information_content": 63.7}
{"id": "HP:0003380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased number of peripheral myelinated nerve fibers", "equivalent_identifiers": ["HP:0003380", "UMLS:C1858285"], "information_content": 92.8}
{"id": "MONDO:0045057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "delirium", "equivalent_identifiers": ["MONDO:0045057", "EFO:0009267", "UMLS:C0011206", "UMLS:C0029221", "UMLS:C1285577", "UMLS:C1306588", "MESH:D003693", "MEDDRA:10000685", "MEDDRA:10000693", "MEDDRA:10000694", "MEDDRA:10000702", "MEDDRA:10006150", "MEDDRA:10012217", "MEDDRA:10012218", "MEDDRA:10012219", "MEDDRA:10031077", "MEDDRA:10042790", "NCIT:C2981", "NCIT:C34868", "SNOMEDCT:130987000", "SNOMEDCT:2776000", "SNOMEDCT:419567006", "medgen:41445", "icd11.foundation:897917531", "HP:0031258"], "information_content": 90.9}
{"id": "HP:0100710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impulsivity", "equivalent_identifiers": ["HP:0100710", "NCIT:C93213", "UMLS:C0021125", "MEDDRA:10021567", "MEDDRA:10021568", "MEDDRA:10060909", "MESH:D007175"], "information_content": 100.0}
{"id": "HP:0000737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irritability", "equivalent_identifiers": ["HP:0000737", "UMLS:C0022107", "UMLS:C2700617", "MEDDRA:10016337", "MEDDRA:10022998", "MEDDRA:10023000", "MEDDRA:10023010", "MEDDRA:10074694", "SNOMEDCT:55929007", "MESH:D007508"], "information_content": 90.9}
{"id": "MONDO:0020678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensorineural hearing loss disorder", "equivalent_identifiers": ["MONDO:0020678", "DOID:10003", "EFO:1001176", "UMLS:C0018784", "MESH:D006319", "MEDDRA:10029253", "MEDDRA:10034375", "MEDDRA:10040015", "MEDDRA:10040016", "MEDDRA:10040018", "NCIT:C26739", "SNOMEDCT:60700002", "medgen:9164", "ICD10:H90.5", "ICD9:389.1", "HP:0000407"], "information_content": 78.5}
{"id": "MONDO:0001627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dementia", "equivalent_identifiers": ["MONDO:0001627", "DOID:1307", "UMLS:C0154319", "UMLS:C0497327", "MESH:D003704", "MEDDRA:10001933", "MEDDRA:10012267", "MEDDRA:10012290", "NCIT:C4786", "SNOMEDCT:52448006", "medgen:99229", "icd11.foundation:546689346", "ICD9:290.8", "HP:0000726"], "information_content": 64.9}
{"id": "HP:0000741", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apathy", "equivalent_identifiers": ["HP:0000741", "NCIT:C117197", "UMLS:C0085632", "MEDDRA:10001440", "MEDDRA:10002942", "MEDDRA:10021703", "MEDDRA:10024642", "MEDDRA:10024643", "SNOMEDCT:20602000", "MESH:D057565"], "information_content": 95.4}
{"id": "MONDO:0002321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensory peripheral neuropathy", "equivalent_identifiers": ["MONDO:0002321", "DOID:2491", "UMLS:C0151313", "MEDDRA:10034620", "MEDDRA:10040038", "MEDDRA:10040039", "MEDDRA:10062975", "NCIT:C3501", "SNOMEDCT:789588003", "SNOMEDCT:95662005", "medgen:101791", "ICD9:356.2", "HP:0000763"], "information_content": 78.0}
{"id": "MONDO:0005246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteomyelitis", "equivalent_identifiers": ["MONDO:0005246", "DOID:1019", "EFO:0003102", "UMLS:C0008707", "UMLS:C0029443", "UMLS:C2242472", "MESH:D010019", "MEDDRA:10005977", "MEDDRA:10009081", "MEDDRA:10009091", "MEDDRA:10031252", "MEDDRA:10031256", "MEDDRA:10031257", "MEDDRA:10031259", "MEDDRA:10045927", "MEDDRA:10045936", "MEDDRA:10046076", "MEDDRA:10046086", "MEDDRA:10061017", "NCIT:C26839", "NCIT:C27577", "SNOMEDCT:111253001", "SNOMEDCT:40970001", "SNOMEDCT:60168000", "medgen:10497", "ICD9:730.1", "HP:0002754"], "information_content": 86.3}
{"id": "MONDO:0012816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 6", "equivalent_identifiers": ["MONDO:0012816", "OMIM:612201", "UMLS:C2677294", "MESH:C567400", "medgen:394252"], "information_content": 100.0}
{"id": "HP:0031295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left atrial enlargement", "equivalent_identifiers": ["HP:0031295", "UMLS:C0238705", "MEDDRA:10051860", "MEDDRA:10057500", "SNOMEDCT:446813000", "SNOMEDCT:67741000119109"], "information_content": 90.9}
{"id": "HP:0001712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left ventricular hypertrophy", "equivalent_identifiers": ["HP:0001712", "EFO:0003896", "NCIT:C50631", "UMLS:C0149721", "MEDDRA:10025164", "MEDDRA:10049773", "MEDDRA:10050581", "SNOMEDCT:55827005", "MESH:D017379"], "information_content": 95.4}
{"id": "HP:0012664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced left ventricular ejection fraction", "equivalent_identifiers": ["HP:0012664", "UMLS:C4022792"], "information_content": 90.9}
{"id": "HP:0034307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated left ventricular end-diastolic diameter", "equivalent_identifiers": ["HP:0034307", "UMLS:C5706158"], "information_content": 100.0}
{"id": "MONDO:0007661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tourette syndrome", "equivalent_identifiers": ["MONDO:0007661", "DOID:11119", "OMIM:137580", "EFO:0004895", "UMLS:C0040517", "UMLS:C1392622", "MESH:C563241", "MESH:D005879", "MEDDRA:10018268", "MEDDRA:10018269", "MEDDRA:10018271", "MEDDRA:10018768", "MEDDRA:10042808", "MEDDRA:10044126", "MEDDRA:10044127", "NCIT:C35078", "SNOMEDCT:5158005", "medgen:21219", "icd11.foundation:119340957", "ICD10:F95.2", "ICD9:307.23"], "information_content": 90.9}
{"id": "MONDO:0002904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "echolalia", "equivalent_identifiers": ["MONDO:0002904", "DOID:4188", "UMLS:C0013528", "UMLS:C4280380", "MESH:D004454", "MEDDRA:10014127", "NCIT:C97166", "SNOMEDCT:64712007", "medgen:8532", "icd11.foundation:928818606", "HP:0010529"], "information_content": 92.8}
{"id": "HP:0000718", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aggressive behavior", "equivalent_identifiers": ["HP:0000718", "NCIT:C122528", "UMLS:C0001807", "UMLS:C0424323", "UMLS:C1457883", "MEDDRA:10001489", "MEDDRA:10001493", "MEDDRA:10010085", "MEDDRA:10037941", "MEDDRA:10047428", "MEDDRA:10057073", "MEDDRA:10075214", "SNOMEDCT:248004009", "SNOMEDCT:61372001"], "information_content": 81.3}
{"id": "MONDO:0008114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compulsion", "equivalent_identifiers": ["MONDO:0008114", "DOID:10933", "OMIM:164230", "EFO:0004242", "UMLS:C0028768", "UMLS:C0600104", "MESH:D003192", "MESH:D009771", "MEDDRA:10010219", "MEDDRA:10029898", "MEDDRA:10029900", "MEDDRA:10029902", "MEDDRA:10037961", "NCIT:C88411", "NCIT:C94241", "SNOMEDCT:12479006", "SNOMEDCT:191736004", "medgen:14445", "icd11.foundation:1582741816", "ICD10:F42", "ICD9:300.3", "HP:0000722"], "information_content": 81.7}
{"id": "HP:0100035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phonic tics", "equivalent_identifiers": ["HP:0100035", "NCIT:C116760", "UMLS:C0751901", "MEDDRA:10066771"], "information_content": 95.4}
{"id": "HP:0000742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Self-mutilation", "equivalent_identifiers": ["HP:0000742", "UMLS:C0036601", "MEDDRA:10039926", "SNOMEDCT:130968006", "MESH:D012652"], "information_content": 92.8}
{"id": "HP:0100034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor tics", "equivalent_identifiers": ["HP:0100034", "NCIT:C116759", "UMLS:C0751900", "MEDDRA:10066770"], "information_content": 95.4}
{"id": "MONDO:0859159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, cataract, impaired intellectual development, and polyneuropathy", "equivalent_identifiers": ["MONDO:0859159", "OMIM:619354", "UMLS:C5543482", "medgen:1781637"], "information_content": 100.0}
{"id": "MONDO:0003432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "strabismus", "equivalent_identifiers": ["MONDO:0003432", "DOID:540", "UMLS:C0029831", "UMLS:C0038379", "UMLS:C5574650", "MESH:D013285", "MEDDRA:10004717", "MEDDRA:10020019", "MEDDRA:10020020", "MEDDRA:10041884", "MEDDRA:10042159", "MEDDRA:10042163", "MEDDRA:10045773", "MEDDRA:10061010", "NCIT:C35040", "SNOMEDCT:128602000", "SNOMEDCT:22066006", "medgen:21337", "ICD10:H50.8", "ICD9:378.7", "HP:0000486"], "information_content": 67.2}
{"id": "HP:0009938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sunken cheeks", "equivalent_identifiers": ["HP:0009938", "UMLS:C4024154"], "information_content": 100.0}
{"id": "HP:0007618", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcutaneous calcification", "equivalent_identifiers": ["HP:0007618", "UMLS:C0263625", "MEDDRA:10089274", "SNOMEDCT:17141001"], "information_content": 100.0}
{"id": "MONDO:0001824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyneuropathy", "equivalent_identifiers": ["MONDO:0001824", "DOID:1389", "EFO:0009562", "UMLS:C0152025", "UMLS:C0751449", "MESH:D011115", "MEDDRA:10036105", "MEDDRA:10036118", "NCIT:C26951", "SNOMEDCT:42345000", "medgen:57502", "icd11.foundation:58868923", "HP:0001271"], "information_content": 79.9}
{"id": "HP:0000272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malar flattening", "equivalent_identifiers": ["HP:0000272", "UMLS:C1858085", "UMLS:C4280651", "MESH:C000721289"], "information_content": 92.8}
{"id": "HP:0011344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe global developmental delay", "equivalent_identifiers": ["HP:0011344", "UMLS:C1837397", "UMLS:C1854919"], "information_content": 100.0}
{"id": "HP:0100830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Round ear", "equivalent_identifiers": ["HP:0100830", "UMLS:C4021959"], "information_content": 100.0}
{"id": "HP:0011343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate global developmental delay", "equivalent_identifiers": ["HP:0011343", "UMLS:C2237142"], "information_content": 100.0}
{"id": "MONDO:0005258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism spectrum disorder", "equivalent_identifiers": ["MONDO:0005258", "DOID:0060041", "EFO:0003756", "UMLS:C0856975", "UMLS:C1510586", "MESH:D000067877", "MEDDRA:10003807", "MEDDRA:10062379", "MEDDRA:10063844", "NCIT:C88412", "medgen:307153", "icd11.foundation:437815624", "HP:0000729"], "information_content": 74.6}
{"id": "HP:0000519", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Developmental cataract", "equivalent_identifiers": ["HP:0000519", "NCIT:C101194", "NCIT:C98888", "UMLS:C0009691", "UMLS:C3277059", "MEDDRA:10007747", "MEDDRA:10010408", "MEDDRA:10010410", "SNOMEDCT:609587005", "SNOMEDCT:79410001"], "information_content": 92.8}
{"id": "HP:0000322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short philtrum", "equivalent_identifiers": ["HP:0000322", "UMLS:C1861324"], "information_content": 95.4}
{"id": "HP:0000336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent supraorbital ridges", "equivalent_identifiers": ["HP:0000336", "UMLS:C1842060", "UMLS:C4280636", "UMLS:C4280637", "UMLS:C4280638", "UMLS:C4280639"], "information_content": 92.8}
{"id": "MONDO:0007301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrocostomandibular syndrome", "equivalent_identifiers": ["MONDO:0007301", "DOID:0111248", "OMIM:117650", "orphanet:1393", "UMLS:C0265342", "MESH:C562538", "MEDDRA:10088264", "SNOMEDCT:51780007", "medgen:120537", "icd11.foundation:1475063064"], "information_content": 100.0}
{"id": "HP:0002025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anal stenosis", "equivalent_identifiers": ["HP:0002025", "NCIT:C78173", "UMLS:C0262374", "UMLS:C5234851", "MEDDRA:10002176", "MEDDRA:10002177", "SNOMEDCT:250037002", "SNOMEDCT:69914001"], "information_content": 100.0}
{"id": "HP:0001374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital hip dislocation", "equivalent_identifiers": ["HP:0001374", "UMLS:C0019555", "MEDDRA:10010503", "MEDDRA:10013172", "SNOMEDCT:48334007", "MESH:D006618"], "information_content": 95.4}
{"id": "HP:0005257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic hypoplasia", "equivalent_identifiers": ["HP:0005257", "UMLS:C1837482", "MEDDRA:10090288"], "information_content": 84.8}
{"id": "HP:0000086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic kidney", "equivalent_identifiers": ["HP:0000086", "UMLS:C0238207", "MEDDRA:10063044", "MEDDRA:10067147", "SNOMEDCT:16507009"], "information_content": 84.2}
{"id": "HP:0000162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glossoptosis", "equivalent_identifiers": ["HP:0000162", "UMLS:C0267048", "UMLS:C4280678", "MEDDRA:10059138", "SNOMEDCT:3639002", "MESH:D065710"], "information_content": 87.2}
{"id": "HP:0410030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft lip", "equivalent_identifiers": ["HP:0410030"], "information_content": 80.2}
{"id": "HP:0006593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous rib insertion to vertebrae", "equivalent_identifiers": ["HP:0006593", "UMLS:C1861704"], "information_content": 100.0}
{"id": "HP:0008897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postnatal growth retardation", "equivalent_identifiers": ["HP:0008897", "UMLS:C1859778"], "information_content": 90.9}
{"id": "HP:0000878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "11 pairs of ribs", "equivalent_identifiers": ["HP:0000878", "UMLS:C1839731"], "information_content": 100.0}
{"id": "MONDO:0011827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent ductus arteriosus", "equivalent_identifiers": ["MONDO:0011827", "DOID:13832", "OMIM.PS:607411", "UMLS:C0013274", "MESH:D004374", "MEDDRA:10013807", "MEDDRA:10034130", "NCIT:C84492", "SNOMEDCT:83330001", "medgen:4415", "ICD10:Q25.0", "ICD9:747.0", "HP:0001643"], "information_content": 89.4}
{"id": "HP:0010290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short palate", "equivalent_identifiers": ["HP:0010290", "UMLS:C1398301", "UMLS:C4020772", "UMLS:C4023918"], "information_content": 100.0}
{"id": "HP:0000358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posteriorly rotated ears", "equivalent_identifiers": ["HP:0000358", "UMLS:C0431478", "SNOMEDCT:253251006"], "information_content": 95.4}
{"id": "MONDO:0001149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly", "equivalent_identifiers": ["MONDO:0001149", "DOID:10907", "UMLS:C4551563", "MESH:D008831", "NCIT:C85874", "SNOMEDCT:1148757008", "SNOMEDCT:1829003", "medgen:1644158", "icd11.foundation:179350437", "ICD10:Q02", "ICD9:742.1", "HP:0000252"], "information_content": 73.7}
{"id": "MONDO:0016064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate", "equivalent_identifiers": ["MONDO:0016064", "DOID:674", "orphanet:2014", "UMLS:C0008925", "UMLS:C2981150", "MESH:D002972", "MEDDRA:10009269", "MEDDRA:10009283", "MEDDRA:10033529", "MEDDRA:10068904", "NCIT:C87069", "SNOMEDCT:63567004", "SNOMEDCT:87979003", "medgen:756015", "icd11.foundation:2129534948", "ICD10:Q35", "ICD9:749.0", "HP:0000175"], "information_content": 78.3}
{"id": "HP:0000494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Downslanted palpebral fissures", "equivalent_identifiers": ["HP:0000494", "UMLS:C0423110", "SNOMEDCT:246800008"], "information_content": 100.0}
{"id": "HP:0004695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcaneal epiphyseal stippling", "equivalent_identifiers": ["HP:0004695", "UMLS:C1861708"], "information_content": 100.0}
{"id": "HP:0030300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "10 pairs of ribs", "equivalent_identifiers": ["HP:0030300", "UMLS:C4022526"], "information_content": 100.0}
{"id": "HP:0004209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 5th finger", "equivalent_identifiers": ["HP:0004209", "UMLS:C1850049", "UMLS:C4229297", "UMLS:C4280538"], "information_content": 95.4}
{"id": "MONDO:0020679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conductive hearing loss disorder", "equivalent_identifiers": ["MONDO:0020679", "UMLS:C0018777", "MESH:D006314", "MEDDRA:10010280", "MEDDRA:10010282", "MEDDRA:10010288", "NCIT:C27645", "SNOMEDCT:44057004", "medgen:9163", "HP:0000405"], "information_content": 84.2}
{"id": "HP:0002987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elbow flexion contracture", "equivalent_identifiers": ["HP:0002987", "UMLS:C0409338", "SNOMEDCT:202271004"], "information_content": 100.0}
{"id": "MONDO:0009869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated Pierre-Robin syndrome", "equivalent_identifiers": ["MONDO:0009869", "OMIM:261800", "orphanet:718", "UMLS:C0031900", "MESH:D010855", "MEDDRA:10035009", "MEDDRA:10039204", "MEDDRA:10039205", "NCIT:C85010", "SNOMEDCT:4602007", "medgen:19310", "icd11.foundation:136361299", "HP:0000201"], "information_content": 89.4}
{"id": "HP:0001611", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal voice", "equivalent_identifiers": ["HP:0001611", "UMLS:C0454555", "UMLS:C0566620", "SNOMEDCT:229645001", "SNOMEDCT:289190003"], "information_content": 100.0}
{"id": "HP:0004468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous tracheal cartilage", "equivalent_identifiers": ["HP:0004468", "UMLS:C1863406"], "information_content": 92.8}
{"id": "HP:0000343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long philtrum", "equivalent_identifiers": ["HP:0000343", "UMLS:C1865014"], "information_content": 100.0}
{"id": "HP:0001591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bell-shaped thorax", "equivalent_identifiers": ["HP:0001591", "UMLS:C1865186"], "information_content": 100.0}
{"id": "MONDO:0007338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft soft palate", "equivalent_identifiers": ["MONDO:0007338", "DOID:0110214", "OMIM:119570", "orphanet:99772", "UMLS:C0432098", "MESH:C562950", "MEDDRA:10009270", "SNOMEDCT:253997002", "medgen:98471", "icd11.foundation:797497023", "HP:0000185"], "information_content": 87.2}
{"id": "HP:0005792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short humerus", "equivalent_identifiers": ["HP:0005792", "UMLS:C1832117"], "information_content": 95.4}
{"id": "MONDO:0002070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular septal defect", "equivalent_identifiers": ["MONDO:0002070", "DOID:1657", "OMIM.PS:614429", "UMLS:C0018818", "MESH:D006345", "MEDDRA:10010671", "MEDDRA:10012119", "MEDDRA:10040100", "MEDDRA:10047298", "MEDDRA:10047300", "MEDDRA:10047720", "MEDDRA:10089779", "NCIT:C84506", "SNOMEDCT:253549006", "SNOMEDCT:30288003", "SNOMEDCT:768552007", "medgen:42366", "icd11.foundation:668140715", "ICD10:Q21.0", "ICD9:745.4", "HP:0001629"], "information_content": 79.6}
{"id": "HP:0000218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High palate", "equivalent_identifiers": ["HP:0000218", "UMLS:C0240635", "MEDDRA:10020046", "SNOMEDCT:27272007"], "information_content": 92.8}
{"id": "HP:0030282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior rib gap", "equivalent_identifiers": ["HP:0030282", "UMLS:C1842696"], "information_content": 100.0}
{"id": "HP:0030280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rib gap", "equivalent_identifiers": ["HP:0030280", "UMLS:C0426827", "SNOMEDCT:249705009"], "information_content": 95.4}
{"id": "MONDO:0004585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyhydramnios", "equivalent_identifiers": ["MONDO:0004585", "DOID:8488", "UMLS:C0020224", "UMLS:C3888576", "MESH:D006831", "MEDDRA:10020486", "MEDDRA:10036079", "MEDDRA:10075867", "NCIT:C92848", "SNOMEDCT:86203003", "medgen:6936", "ICD10:O40", "ICD9:657.0", "HP:0001561"], "information_content": 100.0}
{"id": "MONDO:0005276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dental caries", "equivalent_identifiers": ["MONDO:0005276", "DOID:216", "EFO:0003819", "UMLS:C0011334", "UMLS:C4280623", "MESH:D003731", "MEDDRA:10007666", "MEDDRA:10011947", "MEDDRA:10012318", "MEDDRA:10044020", "MEDDRA:10044023", "MEDDRA:10044027", "MEDDRA:10048297", "MEDDRA:10048298", "MEDDRA:10085528", "NCIT:C52593", "SNOMEDCT:80967001", "medgen:8288", "icd11.foundation:1983306720", "ICD10:K02.6", "ICD9:521.0", "ICD9:521.07", "HP:0000670"], "information_content": 87.2}
{"id": "MONDO:0005392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scoliosis", "equivalent_identifiers": ["MONDO:0005392", "DOID:0060249", "EFO:0004273", "UMLS:C0036439", "UMLS:C0037932", "UMLS:C0700208", "UMLS:C5937607", "MESH:D012600", "MESH:D013121", "MEDDRA:10011648", "MEDDRA:10039722", "MEDDRA:10045724", "NCIT:C78603", "SNOMEDCT:111266001", "SNOMEDCT:298382003", "SNOMEDCT:64217002", "medgen:11348", "icd11.foundation:1925604007", "ICD10:M41.9", "HP:0002650"], "information_content": 83.1}
{"id": "MONDO:0017410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porencephaly", "equivalent_identifiers": ["MONDO:0017410", "DOID:0060263", "orphanet:2940", "UMLS:C3698507", "UMLS:C4082172", "UMLS:C4082173", "MESH:D065708", "MEDDRA:10036170", "NCIT:C99020", "SNOMEDCT:65705009", "SNOMEDCT:698837003", "medgen:901502", "icd11.foundation:137059367", "ICD10:Q04.6", "HP:0002132"], "information_content": 88.2}
{"id": "MONDO:0002473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kidney Cyst", "equivalent_identifiers": ["MONDO:0002473", "DOID:2975", "EFO:0008615", "EFO:1000313", "UMLS:C0022679", "UMLS:C1691228", "UMLS:C3887499", "MESH:D052177", "MEDDRA:10011744", "MEDDRA:10011771", "MEDDRA:10011772", "MEDDRA:10038423", "MEDDRA:10038424", "MEDDRA:10038426", "MEDDRA:10080115", "NCIT:C34750", "NCIT:C3970", "SNOMEDCT:722223000", "medgen:854361", "HP:0000107"], "information_content": 73.2}
{"id": "MONDO:0006664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect", "equivalent_identifiers": ["MONDO:0006664", "DOID:1882", "OMIM.PS:108800", "orphanet:1478", "EFO:1000825", "UMLS:C0018817", "MESH:D006344", "MEDDRA:10003664", "MEDDRA:10003666", "MEDDRA:10010377", "MEDDRA:10019308", "MEDDRA:10040055", "NCIT:C84473", "SNOMEDCT:253366007", "SNOMEDCT:405752007", "SNOMEDCT:70142008", "medgen:6753", "HP:0001631"], "information_content": 81.7}
{"id": "HP:0000465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Webbed neck", "equivalent_identifiers": ["HP:0000465", "NCIT:C87130", "UMLS:C0221217", "MEDDRA:10047876", "MEDDRA:10051972", "SNOMEDCT:11731003"], "information_content": 100.0}
{"id": "HP:0000347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Micrognathia", "equivalent_identifiers": ["HP:0000347", "NCIT:C87094", "UMLS:C0025990", "UMLS:C0240295", "UMLS:C1857130", "UMLS:C4476523", "UMLS:C4476524", "MEDDRA:10026742", "MEDDRA:10027543", "SNOMEDCT:32958008", "MESH:D008844"], "information_content": 82.6}
{"id": "MONDO:0014480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 9", "equivalent_identifiers": ["MONDO:0014480", "DOID:0111770", "OMIM:616067", "UMLS:C4015129", "medgen:863566"], "information_content": 100.0}
{"id": "HP:0012245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sex reversal", "equivalent_identifiers": ["HP:0012245", "UMLS:C4022995"], "information_content": 100.0}
{"id": "MONDO:0001967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gonadal dysgenesis", "equivalent_identifiers": ["MONDO:0001967", "DOID:14447", "UMLS:C0018051", "UMLS:C0687149", "MESH:D006059", "MEDDRA:10018504", "MEDDRA:10018505", "NCIT:C61420", "SNOMEDCT:205681004", "SNOMEDCT:95219002", "medgen:9075", "ICD9:758.6", "HP:0000133"], "information_content": 76.9}
{"id": "HP:0000062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ambiguous genitalia", "equivalent_identifiers": ["HP:0000062", "NCIT:C98810", "UMLS:C0266362", "MEDDRA:10001904", "MEDDRA:10018183", "SNOMEDCT:21321009"], "information_content": 88.2}
{"id": "HP:0000063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fused labia minora", "equivalent_identifiers": ["HP:0000063", "UMLS:C1837532"], "information_content": 100.0}
{"id": "MONDO:0007171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial standstill 1", "equivalent_identifiers": ["MONDO:0007171", "DOID:0080662", "OMIM:108770", "UMLS:C1838539", "UMLS:C4551959", "medgen:1646392"], "information_content": 100.0}
{"id": "MONDO:0009169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocardial fibroelastosis", "equivalent_identifiers": ["MONDO:0009169", "DOID:12929", "OMIM:226000", "orphanet:2022", "EFO:0007251", "UMLS:C0014117", "MESH:D004695", "MEDDRA:10014663", "NCIT:C98922", "SNOMEDCT:65457005", "medgen:4041", "icd11.foundation:1971033419", "ICD10:I42.4", "ICD9:425.3", "HP:0001706"], "information_content": 100.0}
{"id": "MONDO:0015281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial standstill", "equivalent_identifiers": ["MONDO:0015281", "orphanet:1344", "UMLS:C0541782", "MESH:C563984", "MEDDRA:10003108", "MEDDRA:10003116", "MEDDRA:10003655", "MEDDRA:10040738", "MEDDRA:10068645", "MEDDRA:10087237", "MEDDRA:10087245", "NCIT:C62242", "SNOMEDCT:450919004", "SNOMEDCT:5609005", "medgen:639047", "icd11.foundation:483869734", "HP:0025478"], "information_content": 92.8}
{"id": "MONDO:0000466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "first-degree atrioventricular block", "equivalent_identifiers": ["MONDO:0000466", "DOID:0050821", "UMLS:C0085614", "MEDDRA:10000018", "MEDDRA:10003674", "MEDDRA:10003681", "MEDDRA:10003850", "MEDDRA:10016699", "MEDDRA:10019253", "MEDDRA:10019258", "MEDDRA:10019264", "NCIT:C62015", "SNOMEDCT:270492004", "medgen:43215", "HP:0011705"], "information_content": 100.0}
{"id": "HP:0200127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrial cardiomyopathy", "equivalent_identifiers": ["HP:0200127", "UMLS:C4021885"], "information_content": 100.0}
{"id": "HP:0005155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular escape rhythm", "equivalent_identifiers": ["HP:0005155", "UMLS:C0232216", "MEDDRA:10070762", "SNOMEDCT:81898007"], "information_content": 100.0}
{"id": "HP:0006699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature atrial contractions", "equivalent_identifiers": ["HP:0006699", "EFO:0009277", "UMLS:C0033036", "MEDDRA:10015857", "MEDDRA:10015862", "MEDDRA:10036591", "MEDDRA:10042601", "MEDDRA:10042602", "MEDDRA:10042603", "MEDDRA:10050077", "MEDDRA:10056964", "SNOMEDCT:284470004", "SNOMEDCT:287057009", "SNOMEDCT:406461004", "SNOMEDCT:63593006", "MESH:D018880"], "information_content": 100.0}
{"id": "MONDO:1030011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal atrial fibrillation", "equivalent_identifiers": ["MONDO:1030011", "UMLS:C0235480", "MEDDRA:10003661", "MEDDRA:10016570", "MEDDRA:10034039", "MEDDRA:10088453", "NCIT:C80391", "SNOMEDCT:282825002", "medgen:115990", "icd11.foundation:542703670", "HP:0004757"], "information_content": 100.0}
{"id": "MONDO:0007217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A3", "equivalent_identifiers": ["MONDO:0007217", "DOID:0110966", "OMIM:112700", "UMLS:C1834060", "UMLS:C1862140", "MESH:C537090", "SNOMEDCT:890438002", "medgen:354670", "icd11.foundation:153446585", "HP:0004220"], "information_content": 100.0}
{"id": "HP:0009370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type A brachydactyly", "equivalent_identifiers": ["HP:0009370", "UMLS:C4024413"], "information_content": 88.2}
{"id": "HP:0010579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphysis", "equivalent_identifiers": ["HP:0010579", "UMLS:C1865037"], "information_content": 73.9}
{"id": "HP:0005910", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhomboid or triangular shaped 5th finger middle phalanx", "equivalent_identifiers": ["HP:0005910", "UMLS:C4021616"], "information_content": 100.0}
{"id": "OMIM:612229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 3", "equivalent_identifiers": ["OMIM:612229", "UMLS:C2677123"]}
{"id": "MONDO:0021063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colon cancer", "equivalent_identifiers": ["MONDO:0021063", "DOID:219", "UMLS:C0007102", "MEDDRA:10009944", "MEDDRA:10009951", "MEDDRA:10009989", "MEDDRA:10009990", "MEDDRA:10025848", "MEDDRA:10025859", "NCIT:C9242", "SNOMEDCT:363406005", "medgen:2839", "ICD10:C18", "ICD9:153", "HP:0003003"], "information_content": 67.8}
{"id": "MONDO:0013946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 15 with or without anosmia", "equivalent_identifiers": ["MONDO:0013946", "DOID:0090075", "OMIM:614880", "UMLS:C3553977", "medgen:766891"], "information_content": 100.0}
{"id": "MONDO:0009923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Micropenis", "equivalent_identifiers": ["MONDO:0009923", "OMIM:264600", "orphanet:753", "UMLS:C0268297", "UMLS:C3669122", "UMLS:C4551492", "MESH:C535830", "MEDDRA:10000029", "MEDDRA:10071706", "NCIT:C98699", "SNOMEDCT:57514000", "SNOMEDCT:738771004", "medgen:75667", "icd11.foundation:1028755501", "HP:0000054"], "information_content": 100.0}
{"id": "MONDO:0005298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoporosis", "equivalent_identifiers": ["MONDO:0005298", "DOID:11476", "OMIM:166710", "EFO:0003882", "UMLS:C0001787", "UMLS:C0029456", "UMLS:C0029459", "UMLS:C2674640", "UMLS:C3888192", "MESH:D010024", "MEDDRA:10031282", "MEDDRA:10031284", "MEDDRA:10031286", "MEDDRA:10031289", "MEDDRA:10039984", "NCIT:C3298", "SNOMEDCT:18040001", "SNOMEDCT:64859006", "medgen:14535", "icd11.foundation:2113001430", "ICD10:M81.0", "ICD9:733.0", "HP:0000939"], "information_content": 77.6}
{"id": "HP:0000938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteopenia", "equivalent_identifiers": ["HP:0000938", "NCIT:C50910", "UMLS:C0029453", "UMLS:C0747078", "MEDDRA:10049088", "MEDDRA:10065687", "SNOMEDCT:312894000", "SNOMEDCT:78441005"], "information_content": 95.4}
{"id": "MONDO:0010528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anosmia", "equivalent_identifiers": ["MONDO:0010528", "UMLS:C0003126", "UMLS:C0553757", "MESH:D000086582", "MESH:D000857", "MEDDRA:10002653", "MEDDRA:10024877", "MEDDRA:10041217", "NCIT:C116369", "SNOMEDCT:275462005", "SNOMEDCT:44169009", "medgen:1950", "icd11.foundation:1599308422", "HP:0000458"], "information_content": 88.2}
{"id": "HP:0002857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genu valgum", "equivalent_identifiers": ["HP:0002857", "UMLS:C0576093", "MEDDRA:10018196", "MEDDRA:10023480", "SNOMEDCT:299330008", "MESH:D056304"], "information_content": 95.4}
{"id": "HP:0012506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small pituitary gland", "equivalent_identifiers": ["HP:0012506", "UMLS:C4022873"], "information_content": 89.4}
{"id": "HP:0008734", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small testicle", "equivalent_identifiers": ["HP:0008734", "UMLS:C0241355", "SNOMEDCT:276411001"], "information_content": 84.2}
{"id": "MONDO:0009047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptorchidism", "equivalent_identifiers": ["MONDO:0009047", "DOID:11383", "OMIM:219050", "EFO:0004562", "UMLS:C0010417", "MESH:D003456", "MEDDRA:10011498", "MEDDRA:10025500", "MEDDRA:10025501", "MEDDRA:10043294", "MEDDRA:10043295", "MEDDRA:10045505", "MEDDRA:10045506", "MEDDRA:10056600", "NCIT:C12326", "SNOMEDCT:204878001", "medgen:8192", "icd11.foundation:1134950387", "ICD10:Q53.9", "ICD9:752.51", "HP:0000028"], "information_content": 69.7}
{"id": "HP:0000786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primary amenorrhea", "equivalent_identifiers": ["HP:0000786", "NCIT:C113339", "UMLS:C0232939", "MEDDRA:10001931", "MEDDRA:10036672", "MEDDRA:10062836", "SNOMEDCT:156035004", "SNOMEDCT:8913004"], "information_content": 100.0}
{"id": "MONDO:0014242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van Maldergem syndrome 2", "equivalent_identifiers": ["MONDO:0014242", "DOID:0080586", "OMIM:615546", "UMLS:C3809875", "NCIT:C188994", "medgen:816205"], "information_content": 100.0}
{"id": "MONDO:0019637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypoplasia", "equivalent_identifiers": ["MONDO:0019637", "DOID:0080204", "orphanet:93101", "UMLS:C0266295", "MEDDRA:10049102", "SNOMEDCT:32659003", "medgen:120571", "HP:0000089"], "information_content": 90.9}
{"id": "HP:0011220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent forehead", "equivalent_identifiers": ["HP:0011220", "UMLS:C1837260", "UMLS:C1867446"], "information_content": 95.4}
{"id": "HP:0000316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertelorism", "equivalent_identifiers": ["HP:0000316", "NCIT:C34715", "UMLS:C0020534", "MEDDRA:10020771", "MEDDRA:10057862", "SNOMEDCT:194021007", "SNOMEDCT:22006008", "MESH:D006972"], "information_content": 92.8}
{"id": "MONDO:0019804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheomalacia", "equivalent_identifiers": ["MONDO:0019804", "DOID:0060313", "orphanet:95430", "UMLS:C0392109", "UMLS:C0948187", "MESH:C557675", "MESH:D055090", "MEDDRA:10010654", "MEDDRA:10056397", "NCIT:C98634", "SNOMEDCT:95434006", "SNOMEDCT:95467005", "medgen:140261", "icd11.foundation:1616705280", "icd11.foundation:303133490", "ICD10:Q32.0", "HP:0002779"], "information_content": 89.4}
{"id": "HP:0002079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the corpus callosum", "equivalent_identifiers": ["HP:0002079", "UMLS:C0344482", "SNOMEDCT:204043002"], "information_content": 95.4}
{"id": "MONDO:0020491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subcortical band heterotopia", "equivalent_identifiers": ["MONDO:0020491", "DOID:0111169", "orphanet:99796", "UMLS:C1848201", "MEDDRA:10073490", "NCIT:C116933", "medgen:336288", "icd11.foundation:525786944", "HP:0032409"], "information_content": 90.9}
{"id": "HP:0011968", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Feeding Problem", "equivalent_identifiers": ["HP:0011968", "NCIT:C50560", "UMLS:C0232466", "SNOMEDCT:78164000"], "information_content": 83.1}
{"id": "HP:0001263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cognitive delay", "equivalent_identifiers": ["HP:0001263", "UMLS:C0557874", "UMLS:C1864897", "UMLS:C4020875", "SNOMEDCT:224958001"], "information_content": 89.4}
{"id": "HP:0010554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous finger syndactyly", "equivalent_identifiers": ["HP:0010554", "UMLS:C4021254"], "information_content": 80.6}
{"id": "HP:0009890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High anterior hairline", "equivalent_identifiers": ["HP:0009890", "UMLS:C3276036"], "information_content": 95.4}
{"id": "HP:0010044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 4th metacarpal", "equivalent_identifiers": ["HP:0010044", "UMLS:C1840309"], "information_content": 100.0}
{"id": "HP:0000327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the maxilla", "equivalent_identifiers": ["HP:0000327", "UMLS:C0240310", "UMLS:C4082243", "UMLS:C4280640", "UMLS:C4280641", "UMLS:C4280642", "UMLS:C4280643", "MEDDRA:10026954"], "information_content": 89.4}
{"id": "HP:0000689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malocclusion", "equivalent_identifiers": ["HP:0000689", "NCIT:C85055", "UMLS:C0024636", "UMLS:C0685773", "UMLS:C4280613", "UMLS:C4280614", "MEDDRA:10026717", "MEDDRA:10026718", "MEDDRA:10061274", "SNOMEDCT:47944004", "SNOMEDCT:707598004", "SNOMEDCT:92505009", "MESH:D008310"], "information_content": 92.8}
{"id": "HP:0000048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid scrotum", "equivalent_identifiers": ["HP:0000048", "UMLS:C0341787", "SNOMEDCT:236780002"], "information_content": 95.4}
{"id": "MONDO:0005345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypospadias", "equivalent_identifiers": ["MONDO:0005345", "DOID:10892", "OMIM.PS:300633", "EFO:0004209", "UMLS:C0848558", "MESH:D007021", "MEDDRA:10021093", "NCIT:C40341", "SNOMEDCT:416010008", "medgen:163083", "icd11.foundation:810247271", "ICD10:Q54", "HP:0000047"], "information_content": 69.7}
{"id": "HP:0000960", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacral dimple", "equivalent_identifiers": ["HP:0000960", "NCIT:C87118", "UMLS:C0426848", "SNOMEDCT:249729002", "SNOMEDCT:311897005"], "information_content": 100.0}
{"id": "HP:0000402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stenosis of the external auditory canal", "equivalent_identifiers": ["HP:0000402", "UMLS:C0395837", "UMLS:C0576860", "MEDDRA:10013997", "MEDDRA:10061829", "SNOMEDCT:300127002", "SNOMEDCT:301061006"], "information_content": 90.9}
{"id": "HP:0004689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short fourth metatarsal", "equivalent_identifiers": ["HP:0004689", "UMLS:C1848514"], "information_content": 100.0}
{"id": "HP:0000341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow forehead", "equivalent_identifiers": ["HP:0000341", "UMLS:C1839758"], "information_content": 100.0}
{"id": "HP:0000023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inguinal hernia", "equivalent_identifiers": ["HP:0000023", "NCIT:C34690", "NCIT:C34691", "NCIT:C34692", "UMLS:C0019294", "UMLS:C0019295", "UMLS:C0019296", "MEDDRA:10013046", "MEDDRA:10019917", "MEDDRA:10021715", "MEDDRA:10022016", "MEDDRA:10022017", "MEDDRA:10022019", "MEDDRA:10029887", "MEDDRA:10082132", "SNOMEDCT:396232000", "SNOMEDCT:65626001", "SNOMEDCT:73147001", "MESH:D006552"], "information_content": 74.7}
{"id": "HP:0001195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single umbilical artery", "equivalent_identifiers": ["HP:0001195", "NCIT:C117359", "UMLS:C1384670", "MEDDRA:10049807", "SNOMEDCT:204470001", "MESH:D058529"], "information_content": 100.0}
{"id": "HP:0000260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide anterior fontanel", "equivalent_identifiers": ["HP:0000260", "UMLS:C1866134"], "information_content": 100.0}
{"id": "MONDO:0001008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis", "equivalent_identifiers": ["MONDO:0001008", "DOID:10348", "UMLS:C0005744", "MESH:D016569", "MEDDRA:10005155", "medgen:2670", "ICD10:H02.52", "ICD9:374.46", "HP:0000581"], "information_content": 92.8}
{"id": "HP:0010621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous syndactyly of toes", "equivalent_identifiers": ["HP:0010621", "UMLS:C1834737"], "information_content": 88.2}
{"id": "HP:0002282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Choristoma", "equivalent_identifiers": ["HP:0002282", "NCIT:C174383", "NCIT:C80348", "UMLS:C0008519", "UMLS:C0266491", "UMLS:C1562630", "MEDDRA:10077238", "MEDDRA:10080533", "MEDDRA:10082084", "SNOMEDCT:128490007", "SNOMEDCT:253150002", "SNOMEDCT:416286003", "SNOMEDCT:417338002", "SNOMEDCT:448041008", "SNOMEDCT:719446000", "MESH:D002828"], "information_content": 78.8}
{"id": "HP:0040079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular dentition", "equivalent_identifiers": ["HP:0040079", "UMLS:C1856765"], "information_content": 100.0}
{"id": "HP:0009487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviation of the hand", "equivalent_identifiers": ["HP:0009487", "UMLS:C0241521", "SNOMEDCT:249757009"], "information_content": 95.4}
{"id": "MONDO:0010920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microtia", "equivalent_identifiers": ["MONDO:0010920", "OMIM:600674", "orphanet:83463", "UMLS:C0152423", "UMLS:C1833486", "UMLS:C3850155", "MESH:C563457", "MESH:D065817", "MEDDRA:10027555", "NCIT:C180842", "SNOMEDCT:35045004", "medgen:322201", "icd11.foundation:2005415414", "HP:0008551"], "information_content": 89.4}
{"id": "HP:0030043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip subluxation", "equivalent_identifiers": ["HP:0030043", "UMLS:C0434785", "MEDDRA:10042405", "SNOMEDCT:263057000"], "information_content": 100.0}
{"id": "HP:0030084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly", "equivalent_identifiers": ["HP:0030084", "UMLS:C4280304", "UMLS:C4551485", "MEDDRA:10058668", "SNOMEDCT:17268007"], "information_content": 82.6}
{"id": "HP:0002714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Downturned corners of mouth", "equivalent_identifiers": ["HP:0002714", "UMLS:C1866195"], "information_content": 100.0}
{"id": "HP:0002557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic nipples", "equivalent_identifiers": ["HP:0002557", "UMLS:C0432355", "SNOMEDCT:268290005"], "information_content": 100.0}
{"id": "HP:0000774", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow chest", "equivalent_identifiers": ["HP:0000774", "UMLS:C0426790", "SNOMEDCT:249671009"], "information_content": 87.2}
{"id": "HP:0000894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short clavicles", "equivalent_identifiers": ["HP:0000894", "UMLS:C0426799", "SNOMEDCT:93250003"], "information_content": 95.4}
{"id": "HP:0000413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atresia of the external auditory canal", "equivalent_identifiers": ["HP:0000413", "UMLS:C0266597", "UMLS:C1398325", "UMLS:C1840305", "UMLS:C1857079", "UMLS:C1866190", "MEDDRA:10054875", "SNOMEDCT:75355004"], "information_content": 92.8}
{"id": "MONDO:0005516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteochondrodysplasia", "equivalent_identifiers": ["MONDO:0005516", "DOID:2256", "EFO:0005571", "UMLS:C0029422", "UMLS:C4280567", "MESH:D010009", "NCIT:C84978", "SNOMEDCT:105985007", "SNOMEDCT:240190009", "medgen:10495", "ICD10:Q78.9", "ICD9:756.4", "HP:0002652"], "information_content": 63.0}
{"id": "MONDO:0007342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clubfoot", "equivalent_identifiers": ["MONDO:0007342", "DOID:11836", "OMIM:119800", "UMLS:C0009081", "UMLS:C0858279", "MESH:D003025", "MEDDRA:10009687", "MEDDRA:10009694", "MEDDRA:10009695", "MEDDRA:10010419", "MEDDRA:10016523", "MEDDRA:10016869", "MEDDRA:10043105", "MEDDRA:10043106", "MEDDRA:10048426", "NCIT:C84641", "SNOMEDCT:1156475005", "SNOMEDCT:397932003", "medgen:3130", "ICD10:Q66.89", "ICD9:754.51", "HP:0001762"], "information_content": 90.9}
{"id": "HP:0000431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide nasal bridge", "equivalent_identifiers": ["HP:0000431", "UMLS:C1839764", "UMLS:C1849367"], "information_content": 95.4}
{"id": "HP:0045025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small eyes", "equivalent_identifiers": ["HP:0045025", "UMLS:C1837464", "UMLS:C2675021", "UMLS:C4555202", "SNOMEDCT:370116005"], "information_content": 89.4}
{"id": "MONDO:0020341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular nodular heterotopia", "equivalent_identifiers": ["MONDO:0020341", "DOID:0050454", "OMIM.PS:300049", "orphanet:98892", "UMLS:C1868720", "MESH:D054091", "MEDDRA:10066854", "NCIT:C202072", "SNOMEDCT:816068000", "medgen:358387", "icd11.foundation:20200096", "HP:0032388"], "information_content": 85.5}
{"id": "HP:0010537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide cranial sutures", "equivalent_identifiers": ["HP:0010537", "UMLS:C0410935", "SNOMEDCT:268855009"], "information_content": 86.3}
{"id": "MONDO:0000728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ptosis", "equivalent_identifiers": ["MONDO:0000728", "DOID:0060260", "UMLS:C0005745", "MESH:D001763", "MEDDRA:10005157", "MEDDRA:10015995", "MEDDRA:10037273", "MEDDRA:10037274", "NCIT:C27298", "SNOMEDCT:11934000", "medgen:2287", "ICD10:H02.4", "ICD9:374.3", "HP:0000508"], "information_content": 86.3}
{"id": "HP:0001510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Growth delay", "equivalent_identifiers": ["HP:0001510", "NCIT:C113100", "NCIT:C78328", "UMLS:C0151686", "UMLS:C0456070", "UMLS:C0878787", "UMLS:C1837385", "UMLS:C3552463", "MEDDRA:10018760", "MEDDRA:10018761", "MEDDRA:10053759", "MEDDRA:10071095", "SNOMEDCT:276617005", "SNOMEDCT:444896005", "SNOMEDCT:59576002"], "information_content": 70.1}
{"id": "MONDO:0007285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 1 multiple types", "equivalent_identifiers": ["MONDO:0007285", "DOID:0110231", "OMIM:116200", "UMLS:C1861828", "MESH:C566158", "medgen:349374"], "information_content": 100.0}
{"id": "MONDO:0045050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nuclear cataract", "equivalent_identifiers": ["MONDO:0045050", "UMLS:C0392557", "UMLS:C1112705", "MEDDRA:10007759", "MEDDRA:10029813", "MEDDRA:10057735", "NCIT:C135176", "SNOMEDCT:359766000", "SNOMEDCT:53889007", "medgen:140274", "icd11.foundation:2020818341", "HP:0100018"], "information_content": 88.2}
{"id": "MONDO:0011430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulverulent cataract", "equivalent_identifiers": ["MONDO:0011430", "orphanet:98984", "UMLS:C1833118", "MESH:C563426", "MESH:C565133", "SNOMEDCT:1003884001", "medgen:318793", "icd11.foundation:1046743385", "HP:0010693"], "information_content": 92.8}
{"id": "HP:0000482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microcornea", "equivalent_identifiers": ["HP:0000482", "NCIT:C125485", "UMLS:C0266544", "UMLS:C1167713", "MEDDRA:10057414", "MEDDRA:10059298", "SNOMEDCT:26098002"], "information_content": 80.9}
{"id": "MONDO:0020378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset posterior polar cataract", "equivalent_identifiers": ["MONDO:0020378", "orphanet:98993", "UMLS:C0858617", "MEDDRA:10036364", "NCIT:C135180", "SNOMEDCT:315353005", "medgen:163646", "HP:0007787"], "information_content": 89.4}
{"id": "MONDO:0011872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Griscelli syndrome type 2", "equivalent_identifiers": ["MONDO:0011872", "DOID:0060833", "OMIM:607624", "orphanet:79477", "UMLS:C1868679", "MESH:C537302", "NCIT:C111814", "medgen:357030", "icd11.foundation:1836541365"], "information_content": 100.0}
{"id": "HP:0002344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive neurologic deterioration", "equivalent_identifiers": ["HP:0002344", "UMLS:C1854838"], "information_content": 89.4}
{"id": "HP:0002972", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced delayed hypersensitivity", "equivalent_identifiers": ["HP:0002972", "UMLS:C1843386"], "information_content": 100.0}
{"id": "MONDO:0005027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy", "equivalent_identifiers": ["MONDO:0005027", "DOID:1826", "EFO:0000474", "EFO:0009853", "UMLS:C0014544", "UMLS:C0036572", "UMLS:C4317109", "MESH:D004827", "MEDDRA:10010904", "MEDDRA:10010914", "MEDDRA:10010922", "MEDDRA:10015037", "MEDDRA:10015042", "MEDDRA:10015046", "MEDDRA:10015051", "MEDDRA:10015052", "MEDDRA:10039906", "MEDDRA:10039910", "NCIT:C2962", "NCIT:C3020", "SNOMEDCT:128613002", "SNOMEDCT:313307000", "SNOMEDCT:84757009", "SNOMEDCT:91175000", "medgen:4506", "ICD10:G40", "ICD9:345.9", "HP:0001250"], "information_content": 56.5}
{"id": "HP:0002220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melanin pigment aggregation in hair shafts", "equivalent_identifiers": ["HP:0002220", "UMLS:C1843390"], "information_content": 95.4}
{"id": "MONDO:0019290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopigmentation of the skin", "equivalent_identifiers": ["MONDO:0019290", "orphanet:79376", "UMLS:C0162835", "MESH:D017496", "MEDDRA:10021064", "MEDDRA:10040868", "MEDDRA:10050575", "NCIT:C78610", "SNOMEDCT:18655006", "SNOMEDCT:201284005", "SNOMEDCT:89031001", "medgen:102477", "HP:0001010"], "information_content": 70.5}
{"id": "HP:0012156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemophagocytosis", "equivalent_identifiers": ["HP:0012156", "NCIT:C35584", "NCIT:C35985", "UMLS:C0302486", "UMLS:C0876991", "MEDDRA:10048595", "MEDDRA:10049697", "MEDDRA:10053430", "MEDDRA:10053431", "MEDDRA:10060611", "MEDDRA:10060645", "MEDDRA:10075471", "SNOMEDCT:61070002"], "information_content": 75.7}
{"id": "HP:0002718", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent bacterial infections", "equivalent_identifiers": ["HP:0002718", "UMLS:C1844383", "UMLS:C2748958", "UMLS:C4020846", "SNOMEDCT:428875002"], "information_content": 76.7}
{"id": "HP:0001008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accumulation of melanosomes in melanocytes", "equivalent_identifiers": ["HP:0001008", "UMLS:C1843389"], "information_content": 100.0}
{"id": "HP:0002218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silver-gray hair", "equivalent_identifiers": ["HP:0002218", "UMLS:C1836576"], "information_content": 100.0}
{"id": "HP:0001945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fever", "equivalent_identifiers": ["HP:0001945", "NCIT:C3038", "UMLS:C0015967", "MEDDRA:10005911", "MEDDRA:10016558", "MEDDRA:10020083", "MEDDRA:10037660", "MEDDRA:10037663", "MEDDRA:10037668", "MEDDRA:10043204", "MEDDRA:10073718", "SNOMEDCT:386661006", "SNOMEDCT:50177009", "MESH:D005334"], "information_content": 59.9}
{"id": "HP:0001257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spasticity", "equivalent_identifiers": ["HP:0001257", "NCIT:C79750", "UMLS:C0026838", "MEDDRA:10028335", "MEDDRA:10041416", "MEDDRA:10041418", "SNOMEDCT:221360009", "SNOMEDCT:397790002", "MESH:D009128"], "information_content": 66.9}
{"id": "HP:0001433", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatosplenomegaly", "equivalent_identifiers": ["HP:0001433", "NCIT:C97345", "UMLS:C0019214", "MEDDRA:10019847", "MEDDRA:10019849", "SNOMEDCT:36760000"], "information_content": 79.3}
{"id": "MONDO:0008637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bifid uvula", "equivalent_identifiers": ["MONDO:0008637", "OMIM:192100", "orphanet:99771", "UMLS:C0266122", "UMLS:C4551488", "MEDDRA:10053507", "MEDDRA:10053533", "SNOMEDCT:18910001", "medgen:1646931", "icd11.foundation:684398038", "HP:0000193"], "information_content": 100.0}
{"id": "MONDO:0014086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 15", "equivalent_identifiers": ["MONDO:0014086", "DOID:0110347", "OMIM:615220", "UMLS:C3808844", "medgen:815174"], "information_content": 100.0}
{"id": "HP:0004322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short stature", "equivalent_identifiers": ["HP:0004322", "UMLS:C0349588", "MEDDRA:10040600", "MEDDRA:10041194", "MEDDRA:10041960"], "information_content": 73.3}
{"id": "MONDO:0008939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated cerebellar hypoplasia/agenesis", "equivalent_identifiers": ["MONDO:0008939", "DOID:0070338", "OMIM:213000", "orphanet:1398", "UMLS:C0266470", "UMLS:C5231391", "MESH:C562568", "MEDDRA:10008033", "MEDDRA:10021070", "NCIT:C98890", "SNOMEDCT:16026008", "medgen:1695950", "HP:0001321"], "information_content": 86.3}
{"id": "HP:0003023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowing of limbs due to multiple fractures", "equivalent_identifiers": ["HP:0003023", "UMLS:C1850178"], "information_content": 100.0}
{"id": "HP:0000592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blue sclerae", "equivalent_identifiers": ["HP:0000592", "UMLS:C0542514", "MEDDRA:10053883", "SNOMEDCT:204164000"], "information_content": 95.4}
{"id": "MONDO:0010011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizencephaly", "equivalent_identifiers": ["MONDO:0010011", "OMIM:269160", "orphanet:799", "UMLS:C0266484", "UMLS:C0302892", "MESH:D065707", "MEDDRA:10036169", "MEDDRA:10036171", "MEDDRA:10036172", "MEDDRA:10073487", "NCIT:C99056", "SNOMEDCT:253159001", "SNOMEDCT:38353004", "medgen:78606", "icd11.foundation:1693546163", "HP:0010636"], "information_content": 90.9}
{"id": "HP:0012110", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the pons", "equivalent_identifiers": ["HP:0012110", "UMLS:C1848529"], "information_content": 92.8}
{"id": "HP:0000926", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Platyspondyly", "equivalent_identifiers": ["HP:0000926", "UMLS:C1844704"], "information_content": 82.6}
{"id": "HP:0002757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent fractures", "equivalent_identifiers": ["HP:0002757", "EFO:0009513", "NCIT:C26778", "UMLS:C0016655", "UMLS:C1833752", "UMLS:C3805574", "UMLS:C3806283", "MEDDRA:10017087", "MEDDRA:10028200", "SNOMEDCT:134291007", "SNOMEDCT:5468008", "SNOMEDCT:771485007", "SNOMEDCT:788192009", "MESH:D000069076"], "information_content": 72.2}
{"id": "HP:0000883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin ribs", "equivalent_identifiers": ["HP:0000883", "UMLS:C0426818", "SNOMEDCT:249697003"], "information_content": 95.4}
{"id": "MONDO:0014094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe congenital hypochromic anemia with ringed sideroblasts", "equivalent_identifiers": ["MONDO:0014094", "OMIM:615234", "orphanet:300298", "UMLS:C3808920", "UMLS:C4511137", "SNOMEDCT:725463007", "medgen:815250"], "information_content": 100.0}
{"id": "HP:0025066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microcytosis", "equivalent_identifiers": ["HP:0025066", "UMLS:C0221265", "UMLS:C0302844", "UMLS:C0855790", "MEDDRA:10027002", "MEDDRA:10027005", "MEDDRA:10027540", "MEDDRA:10051858", "SNOMEDCT:165455001", "SNOMEDCT:165474009"], "information_content": 100.0}
{"id": "HP:0000980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pallor", "equivalent_identifiers": ["HP:0000980", "NCIT:C50685", "UMLS:C0030232", "UMLS:C0241137", "MEDDRA:10033533", "MEDDRA:10033546", "MEDDRA:10033550", "SNOMEDCT:398979000", "MESH:D010167"], "information_content": 95.4}
{"id": "HP:0002240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatomegaly", "equivalent_identifiers": ["HP:0002240", "NCIT:C3100", "UMLS:C0019209", "MEDDRA:10019842", "MEDDRA:10024676", "SNOMEDCT:80515008", "MESH:D006529"], "information_content": 62.8}
{"id": "MONDO:0958237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated hyperferritinemia", "equivalent_identifiers": ["MONDO:0958237", "OMIM:620729", "UMLS:C0241013", "UMLS:C0743912", "UMLS:C3854388", "MESH:D000085583", "MEDDRA:10016458", "MEDDRA:10016459", "MEDDRA:10040250", "MEDDRA:10075046", "MEDDRA:10075051", "medgen:892475", "HP:0003281"], "information_content": 100.0}
{"id": "HP:0012463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated transferrin saturation", "equivalent_identifiers": ["HP:0012463", "UMLS:C4022892"], "information_content": 100.0}
{"id": "HP:0012465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated hepatic iron concentration", "equivalent_identifiers": ["HP:0012465", "UMLS:C4022891", "MEDDRA:10074354"], "information_content": 95.4}
{"id": "MONDO:0002280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia", "equivalent_identifiers": ["MONDO:0002280", "DOID:2355", "EFO:0004272", "UMLS:C0002871", "UMLS:C0162119", "UMLS:C1510654", "UMLS:C4703372", "MESH:D000740", "MEDDRA:10002034", "MEDDRA:10002071", "MEDDRA:10002082", "MEDDRA:10002272", "MEDDRA:10002315", "MEDDRA:10011964", "MEDDRA:10018884", "MEDDRA:10018889", "MEDDRA:10019171", "MEDDRA:10019483", "MEDDRA:10045627", "MEDDRA:10055600", "MEDDRA:10055742", "MEDDRA:10056184", "NCIT:C2869", "NCIT:C80085", "SNOMEDCT:165397008", "SNOMEDCT:271737000", "medgen:1526", "ICD10:D64.9", "ICD9:285.9", "HP:0001903"], "information_content": 60.2}
{"id": "HP:0000957", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birthmark", "equivalent_identifiers": ["HP:0000957", "NCIT:C40460", "UMLS:C0221263", "UMLS:C0265974", "UMLS:C4732729", "MEDDRA:10006926", "SNOMEDCT:201281002", "SNOMEDCT:51089004", "MESH:D019080"], "information_content": 83.6}
{"id": "HP:0032231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypochromia", "equivalent_identifiers": ["HP:0032231", "NCIT:C64802", "UMLS:C0333912", "MEDDRA:10020968", "MEDDRA:10050789", "SNOMEDCT:44187007"], "information_content": 100.0}
{"id": "MONDO:0015194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sideroblastic anemia", "equivalent_identifiers": ["MONDO:0015194", "DOID:8955", "orphanet:1047", "UMLS:C0002896", "UMLS:C4551661", "MESH:D000756", "MEDDRA:10002078", "MEDDRA:10002312", "MEDDRA:10040661", "MEDDRA:10040662", "MEDDRA:10040663", "NCIT:C36078", "SNOMEDCT:41841004", "medgen:8067", "ICD10:D64.3", "ICD9:285.0", "HP:0001924"], "information_content": 81.3}
{"id": "MONDO:0002146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadism", "equivalent_identifiers": ["MONDO:0002146", "DOID:1924", "UMLS:C0020619", "MESH:D007006", "MEDDRA:10058359", "NCIT:C9227", "SNOMEDCT:48130008", "medgen:5711", "HP:0000135"], "information_content": 68.0}
{"id": "HP:0001744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splenomegaly", "equivalent_identifiers": ["HP:0001744", "NCIT:C3384", "UMLS:C0038002", "MEDDRA:10041637", "MEDDRA:10041660", "MEDDRA:10088730", "SNOMEDCT:16294009", "MESH:D013163"], "information_content": 64.9}
{"id": "MONDO:0100459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "azoospermia", "equivalent_identifiers": ["MONDO:0100459", "DOID:14227", "UMLS:C0004509", "UMLS:C1704202", "MESH:D053713", "MESH:D053714", "MEDDRA:10003495", "MEDDRA:10003883", "NCIT:C80076", "SNOMEDCT:425558002", "SNOMEDCT:448921000", "SNOMEDCT:48188009", "medgen:2150", "icd11.foundation:532688254", "ICD10:N46.0", "ICD9:606.0", "HP:0000027"], "information_content": 88.2}
{"id": "HP:0004447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poikilocytosis", "equivalent_identifiers": ["HP:0004447", "NCIT:C35267", "UMLS:C0221281", "MEDDRA:10035774", "SNOMEDCT:165479004"], "information_content": 78.3}
{"id": "MONDO:0019200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa", "equivalent_identifiers": ["MONDO:0019200", "DOID:10584", "OMIM:268000", "OMIM.PS:268000", "orphanet:791", "UMLS:C0035334", "UMLS:C4551714", "MESH:D012174", "MEDDRA:10038914", "NCIT:C85045", "SNOMEDCT:28835009", "medgen:20551", "ICD10:H35.52", "HP:0000510"], "information_content": 69.6}
{"id": "HP:0001133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Constriction of peripheral visual field", "equivalent_identifiers": ["HP:0001133", "UMLS:C0235095", "UMLS:C5574726", "MEDDRA:10047554", "SNOMEDCT:1151008", "SNOMEDCT:267628004"], "information_content": 88.2}
{"id": "MONDO:0004588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "night blindness", "equivalent_identifiers": ["MONDO:0004588", "DOID:8499", "UMLS:C0028077", "UMLS:C4020885", "MESH:D009755", "MEDDRA:10005181", "MEDDRA:10029404", "MEDDRA:10029407", "MEDDRA:10029862", "MEDDRA:10047523", "NCIT:C34850", "SNOMEDCT:65194006", "medgen:10349", "icd11.foundation:205882698", "ICD10:H53.6", "ICD9:368.6", "HP:0000662"], "information_content": 79.6}
{"id": "HP:0031605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of fundus pigmentation", "equivalent_identifiers": ["HP:0031605", "UMLS:C4703439"], "information_content": 83.6}
{"id": "MONDO:0011508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoma, non-Hodgkin, familial", "equivalent_identifiers": ["MONDO:0011508", "OMIM:605027", "UMLS:C4721532", "SNOMEDCT:118601006", "medgen:1648388"], "information_content": 100.0}
{"id": "MONDO:0005062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoma", "equivalent_identifiers": ["MONDO:0005062", "DOID:0060058", "orphanet:223735", "EFO:0000574", "UMLS:C0024299", "UMLS:C0334621", "UMLS:C1536843", "MESH:D008223", "MEDDRA:10025310", "MEDDRA:10025315", "MEDDRA:10025316", "MEDDRA:10025632", "MEDDRA:10025633", "NCIT:C3208", "NCIT:C7065", "SNOMEDCT:115244002", "SNOMEDCT:1163043007", "SNOMEDCT:118600007", "SNOMEDCT:188676008", "medgen:44223", "ICD10:C85.9", "HP:0002665"], "information_content": 49.7}
{"id": "MONDO:0009152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopia lentis 2, isolated, autosomal recessive", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009152", "DOID:0111149", "OMIM:225100", "UMLS:C3541474", "medgen:762100"], "information_content": 100.0}
{"id": "MONDO:0015998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopia Lentis", "equivalent_identifiers": ["MONDO:0015998", "DOID:0111148", "orphanet:1885", "UMLS:C0013581", "UMLS:C0023309", "UMLS:C1851286", "UMLS:C2746069", "MESH:C536184", "MESH:D004479", "MEDDRA:10010454", "MEDDRA:10013152", "MEDDRA:10014145", "MEDDRA:10024203", "NCIT:C118864", "NCIT:C125484", "NCIT:C34566", "SNOMEDCT:74969002", "medgen:342716", "ICD10:Q12.1", "ICD9:743.37", "HP:0001083"], "information_content": 89.4}
{"id": "MONDO:0008777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gelatinous drop-like corneal dystrophy", "equivalent_identifiers": ["MONDO:0008777", "DOID:0060449", "OMIM:204870", "orphanet:98957", "UMLS:C0339273", "MESH:C535480", "NCIT:C142805", "SNOMEDCT:419900000", "medgen:90939", "icd11.foundation:1062815669"], "information_content": 100.0}
{"id": "HP:0034804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal foreign body sensation", "equivalent_identifiers": ["HP:0034804", "NCIT:C50572", "UMLS:C0920171", "MEDDRA:10051116"], "information_content": 100.0}
{"id": "MONDO:0018102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy", "equivalent_identifiers": ["MONDO:0018102", "DOID:2566", "orphanet:34533", "UMLS:C0010035", "UMLS:C0010036", "MESH:D003317", "MEDDRA:10011005", "MEDDRA:10019868", "NCIT:C34512", "NCIT:C34513", "SNOMEDCT:5587004", "SNOMEDCT:77797009", "medgen:3619", "icd11.foundation:1291475891", "ICD9:371.5", "HP:0001131"], "information_content": 73.2}
{"id": "HP:0000613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Photophobia", "equivalent_identifiers": ["HP:0000613", "NCIT:C28210", "UMLS:C0085636", "UMLS:C4020887", "MEDDRA:10034960", "MEDDRA:10076759", "SNOMEDCT:246622003", "SNOMEDCT:409668002", "MESH:D020795"], "information_content": 92.8}
{"id": "HP:0007663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced visual acuity", "equivalent_identifiers": ["HP:0007663", "NCIT:C118714", "UMLS:C0234632", "MEDDRA:10024935", "MEDDRA:10047531", "MEDDRA:10049061", "SNOMEDCT:13164000"], "information_content": 68.6}
{"id": "HP:0000505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired Vision", "equivalent_identifiers": ["HP:0000505", "NCIT:C50602", "NCIT:C97175", "UMLS:C0042798", "UMLS:C3665347", "MEDDRA:10036163", "MEDDRA:10047516", "MEDDRA:10047517", "MEDDRA:10047571", "SNOMEDCT:246635007", "SNOMEDCT:397540003", "SNOMEDCT:7973008", "MESH:D015354"], "information_content": 66.0}
{"id": "HP:0000622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blurred vision", "equivalent_identifiers": ["HP:0000622", "NCIT:C27123", "UMLS:C0344232", "MEDDRA:10005886", "MEDDRA:10005887", "MEDDRA:10005888", "MEDDRA:10005889", "MEDDRA:10047513", "MEDDRA:10060816", "MEDDRA:10060817", "MEDDRA:10060818", "SNOMEDCT:111516008", "SNOMEDCT:246636008"], "information_content": 90.9}
{"id": "MONDO:0012003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 39", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012003", "DOID:0110497", "OMIM:608265", "UMLS:C1842342", "MESH:C564265", "NCIT:C129874", "medgen:374909"], "information_content": 100.0}
{"id": "HP:0000399", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prelingual sensorineural hearing impairment", "equivalent_identifiers": ["HP:0000399", "UMLS:C4021806"], "information_content": 100.0}
{"id": "MONDO:0060752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with spasticity and poor growth", "equivalent_identifiers": ["MONDO:0060752", "DOID:0070421", "OMIM:618076", "UMLS:C4748081", "medgen:1648309"], "information_content": 100.0}
{"id": "HP:0001771", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achilles tendon contracture", "equivalent_identifiers": ["HP:0001771", "UMLS:C0410264", "SNOMEDCT:203076007"], "information_content": 100.0}
{"id": "HP:0002421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor head control", "equivalent_identifiers": ["HP:0002421", "UMLS:C1836038"], "information_content": 100.0}
{"id": "HP:0002188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed CNS myelination", "equivalent_identifiers": ["HP:0002188", "UMLS:C4021758"], "information_content": 100.0}
{"id": "HP:0000160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow mouth", "equivalent_identifiers": ["HP:0000160", "UMLS:C0026034", "MEDDRA:10027553", "SNOMEDCT:14582003", "MESH:D008865"], "information_content": 95.4}
{"id": "MONDO:0004893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertropia", "equivalent_identifiers": ["MONDO:0004893", "DOID:9837", "UMLS:C0020575", "MEDDRA:10020902", "NCIT:C34716", "SNOMEDCT:40608009", "medgen:43790", "icd11.foundation:1382376000", "ICD10:H50.2", "ICD9:378.31", "HP:0025586"], "information_content": 95.4}
{"id": "HP:0032794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myoclonic seizure", "equivalent_identifiers": ["HP:0032794", "UMLS:C4317123", "MEDDRA:10049588", "SNOMEDCT:1208991001"], "information_content": 85.5}
{"id": "HP:0012469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infantile Spasm", "equivalent_identifiers": ["HP:0012469", "NCIT:C116529", "UMLS:C3887898"], "information_content": 100.0}
{"id": "HP:0000954", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single transverse palmar crease", "equivalent_identifiers": ["HP:0000954", "NCIT:C87120", "UMLS:C0424731", "MEDDRA:10040679", "SNOMEDCT:248409006"], "information_content": 95.4}
{"id": "HP:0001803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nail pits", "equivalent_identifiers": ["HP:0001803", "NCIT:C78496", "UMLS:C0150993", "MEDDRA:10028702", "SNOMEDCT:89704006"], "information_content": 100.0}
{"id": "MONDO:0000476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized dystonia", "equivalent_identifiers": ["MONDO:0000476", "DOID:0050835", "orphanet:376724", "UMLS:C0154674", "UMLS:C0154675", "UMLS:C1848954", "MESH:D004422", "MEDDRA:10042755", "SNOMEDCT:192859002", "SNOMEDCT:425492002", "medgen:341342", "ICD10:G24.1", "ICD10:G24.2", "ICD9:333.6", "ICD9:333.8", "HP:0007325"], "information_content": 88.2}
{"id": "HP:0001007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirsutism", "equivalent_identifiers": ["HP:0001007", "NCIT:C61444", "UMLS:C0019572", "MEDDRA:10019052", "MEDDRA:10020112", "SNOMEDCT:399939002", "MESH:D006628"], "information_content": 81.7}
{"id": "HP:0009748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large earlobe", "equivalent_identifiers": ["HP:0009748", "UMLS:C1844573"], "information_content": 95.4}
{"id": "MONDO:0007878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngomalacia", "equivalent_identifiers": ["MONDO:0007878", "DOID:0080833", "OMIM:150280", "orphanet:2373", "UMLS:C0264303", "UMLS:C0345160", "MESH:D055092", "MEDDRA:10060786", "NCIT:C98971", "SNOMEDCT:253737007", "SNOMEDCT:38086007", "medgen:120500", "icd11.foundation:64182721", "ICD10:Q31.5", "HP:0001601"], "information_content": 100.0}
{"id": "HP:0005469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat occiput", "equivalent_identifiers": ["HP:0005469", "UMLS:C1837402", "UMLS:C4280482"], "information_content": 95.4}
{"id": "HP:0001344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent speech", "equivalent_identifiers": ["HP:0001344", "UMLS:C0746940", "UMLS:C1854882"], "information_content": 100.0}
{"id": "HP:0000496", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of eye movement", "equivalent_identifiers": ["HP:0000496", "NCIT:C182427", "UMLS:C0497202", "MEDDRA:10000132", "SNOMEDCT:103252009"], "information_content": 63.4}
{"id": "HP:0003487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Babinski sign", "equivalent_identifiers": ["HP:0003487", "NCIT:C43247", "UMLS:C0034935", "MEDDRA:10003966", "MEDDRA:10015727", "MEDDRA:10035157", "MEDDRA:10036210", "MEDDRA:10036211", "MEDDRA:10038238", "MEDDRA:10038243", "MEDDRA:10038244", "MEDDRA:10040672", "MEDDRA:10046271", "SNOMEDCT:246586009", "SNOMEDCT:366575004", "MESH:D001405"], "information_content": 100.0}
{"id": "HP:0000298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mask-like facies", "equivalent_identifiers": ["HP:0000298", "UMLS:C0424448", "MEDDRA:10016066", "MEDDRA:10026860", "MEDDRA:10026861", "MEDDRA:10026862", "MEDDRA:10026863", "SNOMEDCT:103606006"], "information_content": 100.0}
{"id": "HP:0002395", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb hyperreflexia", "equivalent_identifiers": ["HP:0002395", "UMLS:C1836696"], "information_content": 92.8}
{"id": "HP:0006380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knee flexion contracture", "equivalent_identifiers": ["HP:0006380", "UMLS:C0409355", "UMLS:C4732741", "SNOMEDCT:202289003"], "information_content": 100.0}
{"id": "HP:0002509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb hypertonia", "equivalent_identifiers": ["HP:0002509", "UMLS:C1838391"], "information_content": 92.8}
{"id": "MONDO:0001020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amblyopia", "equivalent_identifiers": ["MONDO:0001020", "DOID:10376", "UMLS:C0002418", "MESH:D000550", "MEDDRA:10001906", "MEDDRA:10001911", "MEDDRA:10001915", "NCIT:C118764", "SNOMEDCT:387742006", "medgen:8009", "ICD10:H53.00", "ICD9:368.00", "HP:0000646"], "information_content": 83.1}
{"id": "HP:0000448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent nose", "equivalent_identifiers": ["HP:0000448", "UMLS:C0426415", "UMLS:C1400105", "UMLS:C4280629", "SNOMEDCT:249311009"], "information_content": 100.0}
{"id": "HP:0002705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High, narrow palate", "equivalent_identifiers": ["HP:0002705", "UMLS:C1837404"], "information_content": 100.0}
{"id": "MONDO:0004896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esotropia", "equivalent_identifiers": ["MONDO:0004896", "DOID:9840", "UMLS:C0014877", "MESH:D004948", "MEDDRA:10010891", "MEDDRA:10010892", "MEDDRA:10015475", "MEDDRA:10015476", "NCIT:C34596", "SNOMEDCT:16596007", "medgen:4550", "icd11.foundation:459766644", "ICD10:H50.0", "ICD9:378.0", "HP:0000565"], "information_content": 82.6}
{"id": "HP:0001336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myoclonus", "equivalent_identifiers": ["HP:0001336", "NCIT:C116924", "NCIT:C34832", "UMLS:C0027063", "UMLS:C0027066", "UMLS:C1854302", "MEDDRA:10028621", "MEDDRA:10028622", "SNOMEDCT:127324008", "SNOMEDCT:17450006", "MESH:D009207"], "information_content": 80.6}
{"id": "MONDO:0020439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent foramen ovale", "equivalent_identifiers": ["MONDO:0020439", "DOID:13620", "UMLS:C0016522", "MESH:D054092", "MEDDRA:10016982", "NCIT:C34619", "SNOMEDCT:204317008", "medgen:8891", "ICD10:Q21.12", "HP:0001655"], "information_content": 95.4}
{"id": "HP:0002169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clonus", "equivalent_identifiers": ["HP:0002169", "NCIT:C34484", "UMLS:C0009024", "MEDDRA:10009346", "SNOMEDCT:36649002"], "information_content": 90.9}
{"id": "HP:0002521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypsarrhythmia", "equivalent_identifiers": ["HP:0002521", "UMLS:C0684276", "MEDDRA:10049264"], "information_content": 100.0}
{"id": "HP:0000340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sloping forehead", "equivalent_identifiers": ["HP:0000340", "UMLS:C1857679"], "information_content": 95.4}
{"id": "MONDO:0004891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperopia", "equivalent_identifiers": ["MONDO:0004891", "DOID:9834", "UMLS:C0020490", "MESH:D006956", "MEDDRA:10020675", "MEDDRA:10020690", "MEDDRA:10024805", "MEDDRA:10057906", "SNOMEDCT:38101003", "medgen:43780", "ICD10:H52.0", "ICD9:367.0", "HP:0000540"], "information_content": 89.4}
{"id": "HP:0010665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral coxa valga", "equivalent_identifiers": ["HP:0010665", "UMLS:C3810018"], "information_content": 100.0}
{"id": "HP:0002080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Terminal tremor", "equivalent_identifiers": ["HP:0002080", "UMLS:C4020856", "UMLS:C4551520", "MEDDRA:10022520", "MEDDRA:10044571"], "information_content": 100.0}
{"id": "HP:0012450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic constipation", "equivalent_identifiers": ["HP:0012450", "UMLS:C0401149", "MEDDRA:10063582", "SNOMEDCT:236069009"], "information_content": 100.0}
{"id": "HP:0000657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oculomotor apraxia", "equivalent_identifiers": ["HP:0000657", "UMLS:C3489733", "UMLS:C4020886", "SNOMEDCT:193662007"], "information_content": 89.4}
{"id": "MONDO:0007774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperreflexia", "equivalent_identifiers": ["MONDO:0007774", "OMIM:145290", "UMLS:C0034933", "UMLS:C0151889", "MESH:D012021", "MEDDRA:10000170", "MEDDRA:10000171", "MEDDRA:10015583", "MEDDRA:10020745", "MEDDRA:10021676", "MEDDRA:10038254", "MEDDRA:10038258", "MEDDRA:10038260", "NCIT:C43248", "SNOMEDCT:46670006", "SNOMEDCT:86854008", "medgen:57738", "icd11.foundation:514864448", "HP:0001347"], "information_content": 80.9}
{"id": "HP:0008936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axial hypotonia", "equivalent_identifiers": ["HP:0008936", "UMLS:C1853743"], "information_content": 100.0}
{"id": "HP:0002179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opisthotonus", "equivalent_identifiers": ["HP:0002179", "UMLS:C0151818", "MEDDRA:10030898", "MEDDRA:10030899", "SNOMEDCT:8652009"], "information_content": 100.0}
{"id": "MONDO:0006007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesicoureteral reflux", "equivalent_identifiers": ["MONDO:0006007", "DOID:9620", "EFO:0007536", "UMLS:C0042580", "MESH:D014718", "MEDDRA:10046408", "MEDDRA:10047370", "MEDDRA:10047371", "NCIT:C84467", "SNOMEDCT:197811007", "medgen:21852", "icd11.foundation:2142055506", "ICD10:N13.7", "ICD9:593.7", "HP:0000076"], "information_content": 84.2}
{"id": "HP:0005484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Secondary microcephaly", "equivalent_identifiers": ["HP:0005484", "UMLS:C0431352", "UMLS:C1847514", "SNOMEDCT:253130001"], "information_content": 92.8}
{"id": "HP:0034295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced cerebral white matter volume", "equivalent_identifiers": ["HP:0034295", "UMLS:C1969458", "UMLS:C5706151"], "information_content": 100.0}
{"id": "MONDO:0013148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 8", "equivalent_identifiers": ["MONDO:0013148", "DOID:0110225", "OMIM:613123", "UMLS:C2751083", "MESH:C567732", "medgen:413928"], "information_content": 100.0}
{"id": "HP:0012251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ST segment elevation", "equivalent_identifiers": ["HP:0012251", "NCIT:C50540", "UMLS:C0520886", "MEDDRA:10014392", "MEDDRA:10041887", "MEDDRA:10041893", "MEDDRA:10041894", "SNOMEDCT:164931005", "SNOMEDCT:76388001"], "information_content": 92.8}
{"id": "HP:0011712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete right bundle branch block", "equivalent_identifiers": ["HP:0011712", "UMLS:C0085615", "MEDDRA:10006582", "MEDDRA:10037920", "MEDDRA:10039147", "SNOMEDCT:59118001"], "information_content": 100.0}
{"id": "MONDO:0005477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular tachycardia", "equivalent_identifiers": ["MONDO:0005477", "EFO:0005306", "UMLS:C0042514", "MESH:D017180", "MEDDRA:10043085", "MEDDRA:10047302", "NCIT:C50802", "SNOMEDCT:25569003", "medgen:12068", "icd11.foundation:1171837620", "HP:0004756"], "information_content": 76.0}
{"id": "MONDO:0009749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "giant axonal neuropathy 1", "equivalent_identifiers": ["MONDO:0009749", "DOID:0090068", "OMIM:256850", "orphanet:643", "UMLS:C1850386", "medgen:376775"], "information_content": 100.0}
{"id": "MONDO:0005665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bell's palsy", "equivalent_identifiers": ["MONDO:0005665", "DOID:12506", "EFO:0007167", "UMLS:C0376175", "UMLS:C1858719", "MESH:D020330", "MEDDRA:10004223", "MEDDRA:10033559", "MEDDRA:10080910", "NCIT:C26769", "SNOMEDCT:193093009", "medgen:87660", "ICD10:G51.0", "ICD9:351.0", "HP:0010628"], "information_content": 87.2}
{"id": "HP:0003376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Steppage gait", "equivalent_identifiers": ["HP:0003376", "UMLS:C0427149", "MEDDRA:10066777", "SNOMEDCT:27253007"], "information_content": 100.0}
{"id": "HP:0003693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal amyotrophy", "equivalent_identifiers": ["HP:0003693", "UMLS:C1848736"], "information_content": 84.8}
{"id": "HP:0002062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pyramidal tract morphology", "equivalent_identifiers": ["HP:0002062", "UMLS:C4020859", "UMLS:C4021761"], "information_content": 81.3}
{"id": "HP:0003390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sensory axonal neuropathy", "equivalent_identifiers": ["HP:0003390", "UMLS:C1842587", "UMLS:C1970883"], "information_content": 100.0}
{"id": "HP:0001270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor delay", "equivalent_identifiers": ["HP:0001270", "NCIT:C116943", "UMLS:C1854301", "UMLS:C4020874", "MEDDRA:10070302"], "information_content": 84.8}
{"id": "HP:0007002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor axonal neuropathy", "equivalent_identifiers": ["HP:0007002", "UMLS:C1854570", "UMLS:C2749625", "UMLS:C4020811"], "information_content": 100.0}
{"id": "HP:0002936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal sensory impairment", "equivalent_identifiers": ["HP:0002936", "UMLS:C1847584"], "information_content": 92.8}
{"id": "HP:0003701", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal muscle weakness", "equivalent_identifiers": ["HP:0003701", "UMLS:C0221629", "UMLS:C1838869", "MEDDRA:10079474", "SNOMEDCT:249939004"], "information_content": 84.2}
{"id": "MONDO:0005293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "flatfoot", "equivalent_identifiers": ["MONDO:0005293", "EFO:0003874", "UMLS:C0016202", "UMLS:C0264133", "MESH:D005413", "MEDDRA:10016176", "MEDDRA:10016762", "MEDDRA:10016763", "MEDDRA:10034744", "MEDDRA:10034746", "MEDDRA:10067707", "MEDDRA:10085651", "NCIT:C34616", "SNOMEDCT:203534009", "SNOMEDCT:53226007", "medgen:42034", "HP:0001763"], "information_content": 95.4}
{"id": "HP:0000256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrocephaly", "equivalent_identifiers": ["HP:0000256", "UMLS:C2243051", "UMLS:C4255213", "UMLS:C4280663", "UMLS:C4280664", "SNOMEDCT:1145403003"], "information_content": 71.2}
{"id": "HP:0002212", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curly hair", "equivalent_identifiers": ["HP:0002212", "UMLS:C0558165", "UMLS:C2697452", "SNOMEDCT:225570000"], "information_content": 95.4}
{"id": "HP:0006956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lateral ventricle dilatation", "equivalent_identifiers": ["HP:0006956", "UMLS:C1856409"], "information_content": 95.4}
{"id": "HP:0001761", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pes cavus", "equivalent_identifiers": ["HP:0001761", "UMLS:C0039273", "UMLS:C0728829", "MEDDRA:10010590", "MEDDRA:10034743", "MEDDRA:10043103", "SNOMEDCT:205091006", "SNOMEDCT:36755004", "MESH:D000070589"], "information_content": 100.0}
{"id": "HP:0001260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysarthria", "equivalent_identifiers": ["HP:0001260", "NCIT:C79549", "UMLS:C0013362", "MEDDRA:10013887", "SNOMEDCT:8011004", "MESH:D004401"], "information_content": 89.4}
{"id": "HP:0001284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Areflexia", "equivalent_identifiers": ["HP:0001284", "NCIT:C115420", "UMLS:C0234146", "UMLS:C0241772", "UMLS:C0278124", "MEDDRA:10000338", "MEDDRA:10000339", "MEDDRA:10003084", "MEDDRA:10038241", "MEDDRA:10038256", "MEDDRA:10067218", "SNOMEDCT:349006", "SNOMEDCT:37280007"], "information_content": 84.8}
{"id": "HP:0001317", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebellum morphology", "equivalent_identifiers": ["HP:0001317", "UMLS:C0742038", "UMLS:C1866129"], "information_content": 64.9}
{"id": "HP:0007256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyramidal sign", "equivalent_identifiers": ["HP:0007256", "UMLS:C0234132", "SNOMEDCT:14648003"], "information_content": 88.2}
{"id": "HP:0001258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spastic paraplegia", "equivalent_identifiers": ["HP:0001258", "UMLS:C0037772", "MEDDRA:10048792", "SNOMEDCT:192967009"], "information_content": 95.4}
{"id": "HP:0002522", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Areflexia of lower limbs", "equivalent_identifiers": ["HP:0002522", "UMLS:C1856694"], "information_content": 90.9}
{"id": "HP:0002600", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyporeflexia of lower limbs", "equivalent_identifiers": ["HP:0002600", "UMLS:C1834696"], "information_content": 92.8}
{"id": "MONDO:0009086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-small bowel diverticulosis-neuropathy syndrome", "equivalent_identifiers": ["MONDO:0009086", "OMIM:221400", "orphanet:3217", "UMLS:C1857338", "MESH:C537305", "SNOMEDCT:733071009", "medgen:347426"], "information_content": 100.0}
{"id": "HP:0002256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small bowel diverticula", "equivalent_identifiers": ["HP:0002256", "UMLS:C0267498", "MEDDRA:10013533", "SNOMEDCT:8114009"], "information_content": 90.9}
{"id": "HP:0002630", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fat malabsorption", "equivalent_identifiers": ["HP:0002630", "UMLS:C0554103", "SNOMEDCT:197494007"], "information_content": 89.4}
{"id": "HP:0003075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoproteinemia", "equivalent_identifiers": ["HP:0003075", "UMLS:C0020639", "UMLS:C0392692", "MEDDRA:10021083", "MEDDRA:10021084", "MEDDRA:10037031", "MEDDRA:10040387", "SNOMEDCT:166778002", "SNOMEDCT:8900005", "MESH:D007019"], "information_content": 92.8}
{"id": "MONDO:0005244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy", "equivalent_identifiers": ["MONDO:0005244", "DOID:870", "EFO:0003100", "UMLS:C0031117", "UMLS:C0442874", "MEDDRA:10029328", "MEDDRA:10029330", "NCIT:C119734", "NCIT:C4731", "SNOMEDCT:386033004", "medgen:18386", "ICD10:G62.9", "HP:0009830"], "information_content": 59.7}
{"id": "HP:0001649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tachycardia", "equivalent_identifiers": ["HP:0001649", "NCIT:C38029", "UMLS:C0039231", "UMLS:C4020868", "MEDDRA:10019302", "MEDDRA:10019303", "MEDDRA:10019322", "MEDDRA:10020081", "MEDDRA:10037474", "MEDDRA:10037484", "MEDDRA:10037490", "MEDDRA:10037733", "MEDDRA:10043071", "MEDDRA:10043078", "MEDDRA:10043086", "MEDDRA:10066996", "SNOMEDCT:3424008", "SNOMEDCT:86651002", "MESH:D013610"], "information_content": 76.5}
{"id": "HP:0005229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jejunoileal ulceration", "equivalent_identifiers": ["HP:0005229", "UMLS:C4025232"], "information_content": 100.0}
{"id": "MONDO:0014247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial episodic pain syndrome with predominantly lower limb involvement", "equivalent_identifiers": ["MONDO:0014247", "DOID:0111731", "OMIM:615552", "orphanet:391392", "UMLS:C3809899", "NCIT:C125390", "medgen:816229"], "information_content": 100.0}
{"id": "MONDO:0044872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysautonomia", "equivalent_identifiers": ["MONDO:0044872", "UMLS:C0013363", "UMLS:C4022952", "MEDDRA:10013889", "NCIT:C53439", "medgen:8511", "HP:0012332"], "information_content": 72.1}
{"id": "HP:0012531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pain", "equivalent_identifiers": ["HP:0012531", "EFO:0003843", "NCIT:C3303", "UMLS:C0030193", "MEDDRA:10033371", "MEDDRA:10033470", "SNOMEDCT:22253000", "MESH:D010146"], "information_content": 52.4}
{"id": "MONDO:0008617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 11", "equivalent_identifiers": ["MONDO:0008617", "DOID:0110894", "OMIM:191390", "UMLS:C2674051", "MESH:C567154", "medgen:393069"], "information_content": 100.0}
{"id": "MONDO:0005265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease", "equivalent_identifiers": ["MONDO:0005265", "DOID:0050589", "OMIM.PS:266600", "EFO:0003767", "UMLS:C0021390", "UMLS:C0578878", "MESH:D015212", "MEDDRA:10021184", "MEDDRA:10021972", "MEDDRA:10021973", "NCIT:C3138", "SNOMEDCT:24526004", "SNOMEDCT:302168000", "medgen:43877", "KEGG.DISEASE:05321", "HP:0002037"], "information_content": 70.9}
{"id": "HP:0002573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hematochezia", "equivalent_identifiers": ["HP:0002573", "NCIT:C98936", "UMLS:C0018932", "MEDDRA:10018836", "MEDDRA:10060544", "SNOMEDCT:236068001", "SNOMEDCT:405729008"], "information_content": 95.4}
{"id": "HP:0001824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weight loss", "equivalent_identifiers": ["HP:0001824", "NCIT:C3445", "UMLS:C1262477", "MEDDRA:10024849", "MEDDRA:10024883", "MEDDRA:10024886", "MEDDRA:10047900", "MEDDRA:10048061", "SNOMEDCT:262285001", "MESH:D015431"], "information_content": 58.1}
{"id": "HP:0002027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal pain", "equivalent_identifiers": ["HP:0002027", "NCIT:C26682", "NCIT:C78320", "NCIT:C78630", "UMLS:C0000737", "UMLS:C0221512", "UMLS:C0232487", "UMLS:C0235309", "UMLS:C0687713", "MEDDRA:10000059", "MEDDRA:10000081", "MEDDRA:10000085", "MEDDRA:10000429", "MEDDRA:10004226", "MEDDRA:10013084", "MEDDRA:10017814", "MEDDRA:10017999", "MEDDRA:10018000", "MEDDRA:10018241", "MEDDRA:10018796", "MEDDRA:10033374", "MEDDRA:10033402", "MEDDRA:10033492", "MEDDRA:10042076", "MEDDRA:10042101", "MEDDRA:10042112", "MEDDRA:10042124", "MEDDRA:10042126", "MEDDRA:10045148", "MEDDRA:10046318", "MEDDRA:10064906", "SNOMEDCT:162059005", "SNOMEDCT:21522001", "SNOMEDCT:271681002", "SNOMEDCT:43364001", "MESH:D015746"], "information_content": 59.1}
{"id": "MONDO:0009521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukemia, acute myelocytic, with polyposis coli and colon cancer", "equivalent_identifiers": ["MONDO:0009521", "OMIM:246470", "UMLS:C1855505", "MESH:C565441", "medgen:383699"], "information_content": 100.0}
{"id": "HP:0005227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adenomatous colonic polyposis", "equivalent_identifiers": ["HP:0005227", "EFO:0700080", "NCIT:C3339", "NCIT:C4135", "NCIT:C6728", "NCIT:C6729", "UMLS:C0017097", "UMLS:C0032580", "UMLS:C0334294", "UMLS:C1868071", "UMLS:C2673218", "UMLS:C2673224", "UMLS:C2674616", "UMLS:C2713442", "UMLS:C2713443", "MEDDRA:10017727", "MEDDRA:10036135", "MEDDRA:10056981", "MEDDRA:10057848", "MEDDRA:10059327", "SNOMEDCT:423471004", "SNOMEDCT:60876000", "SNOMEDCT:6379007", "SNOMEDCT:70921007", "SNOMEDCT:715866009", "SNOMEDCT:72900001", "MESH:C538265", "MESH:D005736", "MESH:D011125"], "information_content": 82.6}
{"id": "MONDO:0018874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute myeloid leukemia", "equivalent_identifiers": ["MONDO:0018874", "DOID:9119", "OMIM:601626", "orphanet:519", "EFO:0000222", "UMLS:C0023467", "UMLS:C3275959", "MESH:D015470", "MEDDRA:10000801", "MEDDRA:10000878", "MEDDRA:10000880", "MEDDRA:10000884", "MEDDRA:10000886", "MEDDRA:10024291", "MEDDRA:10024346", "MEDDRA:10028552", "MEDDRA:10028557", "MEDDRA:10029549", "MEDDRA:10029551", "MEDDRA:10051003", "MEDDRA:10054296", "MEDDRA:10060354", "MEDDRA:10060394", "MEDDRA:10060553", "MEDDRA:10060557", "NCIT:C3171", "SNOMEDCT:1162928000", "SNOMEDCT:91861009", "medgen:9730", "ICD9:205.0", "KEGG.DISEASE:05221", "HP:0004808"], "information_content": 61.6}
{"id": "MONDO:0002118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary system disorder", "equivalent_identifiers": ["MONDO:0002118", "DOID:18", "EFO:0009690", "UMLS:C0042063", "UMLS:C0042075", "UMLS:C0080276", "UMLS:C1335051", "UMLS:C4020895", "MESH:D000091642", "MESH:D014564", "MESH:D014570", "MEDDRA:10002625", "MEDDRA:10013278", "MEDDRA:10013279", "MEDDRA:10038359", "MEDDRA:10046566", "MEDDRA:10046567", "MEDDRA:10046568", "MEDDRA:10046692", "MEDDRA:10046693", "MEDDRA:10046694", "MEDDRA:10046695", "MEDDRA:10046699", "MEDDRA:10046700", "MEDDRA:10046709", "MEDDRA:10062334", "NCIT:C156660", "NCIT:C27599", "NCIT:C3430", "NCIT:C35107", "SNOMEDCT:128606002", "SNOMEDCT:287085006", "SNOMEDCT:41368006", "SNOMEDCT:42030000", "medgen:21791", "HP:0000119"], "information_content": 45.1}
{"id": "MONDO:0009904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gitelman syndrome", "equivalent_identifiers": ["MONDO:0009904", "DOID:0050450", "OMIM:263800", "orphanet:358", "UMLS:C0268450", "MESH:D053579", "MEDDRA:10062906", "NCIT:C84730", "SNOMEDCT:707756004", "medgen:75681"], "information_content": 100.0}
{"id": "MONDO:0002317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dizziness", "equivalent_identifiers": ["MONDO:0002317", "DOID:2479", "EFO:0009847", "UMLS:C0012833", "UMLS:C0042571", "UMLS:C0155503", "UMLS:C0476206", "MESH:D004244", "MESH:D014717", "MEDDRA:10013573", "MEDDRA:10013580", "MEDDRA:10019201", "MEDDRA:10019202", "MEDDRA:10019203", "MEDDRA:10041619", "MEDDRA:10047340", "MEDDRA:10047343", "MEDDRA:10047347", "MEDDRA:10047349", "MEDDRA:10048019", "MEDDRA:10058708", "NCIT:C37943", "NCIT:C38057", "SNOMEDCT:271789005", "SNOMEDCT:38403006", "SNOMEDCT:399090003", "SNOMEDCT:399153001", "SNOMEDCT:404640003", "medgen:56365", "ICD10:H81.4", "ICD9:386.2", "HP:0002321"], "information_content": 65.3}
{"id": "MONDO:0006496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palsy", "equivalent_identifiers": ["MONDO:0006496", "EFO:1000631", "UMLS:C0522224", "UMLS:C3887651", "MESH:D010243", "MEDDRA:10033558", "MEDDRA:10033798", "MEDDRA:10033799", "MEDDRA:10033819", "MEDDRA:10033839", "MEDDRA:10033846", "NCIT:C116721", "NCIT:C3310", "SNOMEDCT:44695005", "medgen:854494", "HP:0003470"], "information_content": 65.6}
{"id": "MONDO:0018100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomagnesemia", "equivalent_identifiers": ["MONDO:0018100", "DOID:0060879", "OMIM.PS:602014", "UMLS:C0151723", "UMLS:C4049202", "MEDDRA:10021027", "MEDDRA:10021028", "MEDDRA:10076626", "MEDDRA:10076629", "NCIT:C123263", "NCIT:C37975", "SNOMEDCT:190855004", "SNOMEDCT:80710001", "medgen:57481", "ICD10:E83.4", "HP:0002917"], "information_content": 80.2}
{"id": "HP:0001949", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypokalemic alkalosis", "equivalent_identifiers": ["HP:0001949", "UMLS:C0085570", "MEDDRA:10001684", "MEDDRA:10001685", "MEDDRA:10021016", "MEDDRA:10021019", "SNOMEDCT:22774003"], "information_content": 92.8}
{"id": "MONDO:0001314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudogout", "equivalent_identifiers": ["MONDO:0001314", "DOID:1156", "UMLS:C0033802", "UMLS:C0157852", "UMLS:C0553730", "MESH:D002805", "MEDDRA:10008687", "MEDDRA:10008688", "MEDDRA:10008689", "MEDDRA:10008690", "MEDDRA:10008691", "MEDDRA:10008720", "MEDDRA:10037121", "MEDDRA:10061761", "MEDDRA:10087753", "NCIT:C34955", "SNOMEDCT:201625003", "SNOMEDCT:201637001", "SNOMEDCT:239832006", "SNOMEDCT:239838005", "medgen:154303", "icd11.foundation:2041797033", "ICD9:712.1", "HP:0000934"], "information_content": 90.9}
{"id": "MONDO:0005468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotension", "equivalent_identifiers": ["MONDO:0005468", "EFO:0005251", "UMLS:C0020649", "MESH:D007022", "MEDDRA:10003146", "MEDDRA:10003169", "MEDDRA:10005734", "MEDDRA:10005743", "MEDDRA:10005744", "MEDDRA:10005753", "MEDDRA:10006064", "MEDDRA:10006065", "MEDDRA:10013644", "MEDDRA:10013645", "MEDDRA:10016174", "MEDDRA:10021097", "MEDDRA:10021099", "MEDDRA:10021106", "MEDDRA:10024895", "MEDDRA:10024896", "MEDDRA:10024982", "MEDDRA:10036638", "MEDDRA:10066331", "NCIT:C3128", "SNOMEDCT:45007003", "medgen:5715", "HP:0002615"], "information_content": 83.6}
{"id": "HP:0001324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle weakness", "equivalent_identifiers": ["HP:0001324", "NCIT:C50658", "UMLS:C0151786", "MEDDRA:10028350", "MEDDRA:10028351", "MEDDRA:10028372", "MEDDRA:10047867", "SNOMEDCT:26544005", "MESH:D018908"], "information_content": 66.1}
{"id": "HP:0001962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palpitations", "equivalent_identifiers": ["HP:0001962", "NCIT:C168437", "NCIT:C37999", "UMLS:C0030252", "UMLS:C0425591", "MEDDRA:10013646", "MEDDRA:10019313", "MEDDRA:10019325", "MEDDRA:10033556", "MEDDRA:10033557", "SNOMEDCT:80313002"], "information_content": 82.1}
{"id": "HP:0030083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Salt craving", "equivalent_identifiers": ["HP:0030083", "UMLS:C0240928", "MEDDRA:10067951"], "information_content": 100.0}
{"id": "MONDO:0002203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Constipation", "equivalent_identifiers": ["MONDO:0002203", "UMLS:C0009806", "UMLS:C0237326", "MESH:D003248", "MEDDRA:10010774", "MEDDRA:10050960", "MEDDRA:10051244", "MEDDRA:10054833", "MEDDRA:10055664", "NCIT:C37930", "SNOMEDCT:14760008", "SNOMEDCT:225595004", "medgen:1101", "HP:0002019"], "information_content": 71.0}
{"id": "HP:0003127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocalciuria", "equivalent_identifiers": ["HP:0003127", "UMLS:C0020599", "MEDDRA:10050977", "SNOMEDCT:86353007"], "information_content": 95.4}
{"id": "HP:0000017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nocturia", "equivalent_identifiers": ["HP:0000017", "NCIT:C82673", "UMLS:C0028734", "MEDDRA:10029446", "MEDDRA:10029454", "MEDDRA:10054791", "SNOMEDCT:139394000", "MESH:D053158"], "information_content": 100.0}
{"id": "HP:0003401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paresthesia", "equivalent_identifiers": ["HP:0003401", "NCIT:C28177", "UMLS:C0030554", "MEDDRA:10033775", "MEDDRA:10033987", "SNOMEDCT:91019004", "MESH:D010292"], "information_content": 86.3}
{"id": "MONDO:0007937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypomagnesemia 2", "equivalent_identifiers": ["MONDO:0007937", "DOID:0060885", "OMIM:154020", "orphanet:34528", "UMLS:C1835171", "UMLS:C5574944", "MESH:C537152", "SNOMEDCT:725393000", "medgen:320542", "HP:0005567"], "information_content": 100.0}
{"id": "HP:0003201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhabdomyolysis", "equivalent_identifiers": ["HP:0003201", "EFO:0003867", "NCIT:C118318", "UMLS:C0035410", "MEDDRA:10039020", "SNOMEDCT:240131006", "SNOMEDCT:89010004", "MESH:D012206"], "information_content": 88.2}
{"id": "HP:0001281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tetany", "equivalent_identifiers": ["HP:0001281", "NCIT:C114789", "UMLS:C0039621", "MEDDRA:10043380", "SNOMEDCT:10629009", "MESH:D013746"], "information_content": 100.0}
{"id": "HP:0012378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigue", "equivalent_identifiers": ["HP:0012378", "NCIT:C3036", "UMLS:C0015672", "MEDDRA:10016256", "MEDDRA:10016257", "MEDDRA:10016356", "MEDDRA:10024862", "MEDDRA:10043889", "MEDDRA:10043890", "MEDDRA:10047871", "MEDDRA:10057841", "SNOMEDCT:248274002", "SNOMEDCT:84229001", "MESH:D005221"], "information_content": 68.6}
{"id": "HP:0002829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arthralgia", "equivalent_identifiers": ["HP:0002829", "NCIT:C50464", "UMLS:C0003862", "UMLS:C0857177", "MEDDRA:10000449", "MEDDRA:10003239", "MEDDRA:10003244", "MEDDRA:10003245", "MEDDRA:10013088", "MEDDRA:10023197", "MEDDRA:10023222", "MEDDRA:10033434", "MEDDRA:10033444", "MEDDRA:10033456", "MEDDRA:10033511", "SNOMEDCT:57676002", "MESH:D018771"], "information_content": 71.4}
{"id": "HP:0000848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating renin concentration", "equivalent_identifiers": ["HP:0000848", "UMLS:C0240783"], "information_content": 95.4}
{"id": "HP:0001959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polydipsia", "equivalent_identifiers": ["HP:0001959", "NCIT:C50700", "UMLS:C0085602", "MEDDRA:10015608", "MEDDRA:10036067", "MEDDRA:10036070", "MEDDRA:10043459", "MEDDRA:10072057", "SNOMEDCT:139104001", "SNOMEDCT:17173007", "SNOMEDCT:267026004", "MESH:D059606"], "information_content": 89.4}
{"id": "MONDO:0024290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enuresis", "equivalent_identifiers": ["MONDO:0024290", "UMLS:C0014394", "MESH:D004775", "MEDDRA:10014928", "NCIT:C34588", "medgen:8649", "icd11.foundation:1157749237", "HP:0000805"], "information_content": 90.9}
{"id": "HP:0001954", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent fever", "equivalent_identifiers": ["HP:0001954", "NCIT:C35367", "UMLS:C0277799", "UMLS:C3714772", "MEDDRA:10022571", "MEDDRA:10058698", "SNOMEDCT:77957000"], "information_content": 90.9}
{"id": "HP:0001657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged QT interval", "equivalent_identifiers": ["HP:0001657", "NCIT:C71034", "UMLS:C0151878", "MEDDRA:10014387", "MEDDRA:10024802", "MEDDRA:10037700", "MEDDRA:10037703", "MEDDRA:10037705", "SNOMEDCT:111975006"], "information_content": 92.8}
{"id": "HP:0000128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal potassium wasting", "equivalent_identifiers": ["HP:0000128", "UMLS:C1846348"], "information_content": 100.0}
{"id": "MONDO:0003019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemia", "equivalent_identifiers": ["MONDO:0003019", "DOID:4500", "UMLS:C0020621", "UMLS:C0683388", "UMLS:C1514284", "UMLS:C1971021", "MESH:D007008", "MEDDRA:10021015", "MEDDRA:10021017", "MEDDRA:10021018", "MEDDRA:10021020", "MEDDRA:10021080", "MEDDRA:10021081", "MEDDRA:10024923", "MEDDRA:10042817", "MEDDRA:10060423", "NCIT:C34939", "NCIT:C37974", "SNOMEDCT:166690008", "SNOMEDCT:43339004", "medgen:271346", "HP:0002900"], "information_content": 85.5}
{"id": "HP:0000823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed puberty", "equivalent_identifiers": ["HP:0000823", "NCIT:C62587", "UMLS:C0034012", "MEDDRA:10012205", "SNOMEDCT:123526007", "SNOMEDCT:400003000", "MESH:D011628"], "information_content": 85.5}
{"id": "HP:0000103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyuria", "equivalent_identifiers": ["HP:0000103", "NCIT:C118303", "UMLS:C0032617", "MEDDRA:10013524", "MEDDRA:10036142", "MEDDRA:10046683", "SNOMEDCT:28442001", "SNOMEDCT:56574000", "SNOMEDCT:718402002", "MESH:D011141"], "information_content": 92.8}
{"id": "MONDO:0008962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Griscelli syndrome type 1", "equivalent_identifiers": ["MONDO:0008962", "DOID:0060832", "OMIM:214450", "orphanet:79476", "UMLS:C1859194", "MESH:C537301", "SNOMEDCT:1254946006", "medgen:347092", "icd11.foundation:875700770"], "information_content": 100.0}
{"id": "MONDO:0001039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tonsillitis", "equivalent_identifiers": ["MONDO:0001039", "DOID:10456", "UMLS:C0040425", "UMLS:C0149517", "UMLS:C0740402", "MESH:D014069", "MEDDRA:10009152", "MEDDRA:10044008", "MEDDRA:10044010", "MEDDRA:10044011", "MEDDRA:10044012", "MEDDRA:10065169", "NCIT:C116006", "SNOMEDCT:90176007", "SNOMEDCT:90979004", "medgen:1781351", "ICD10:J35.01", "ICD9:474.00", "HP:0011110"], "information_content": 89.4}
{"id": "HP:0002227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White eyelashes", "equivalent_identifiers": ["HP:0002227", "UMLS:C1836736", "UMLS:C4280578"], "information_content": 81.7}
{"id": "HP:0004527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large clumps of pigment irregularly distributed along hair shaft", "equivalent_identifiers": ["HP:0004527", "UMLS:C4025315"], "information_content": 100.0}
{"id": "HP:0002226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White eyebrow", "equivalent_identifiers": ["HP:0002226", "UMLS:C1836737", "UMLS:C4280579", "UMLS:C4280580"], "information_content": 81.7}
{"id": "MONDO:0012755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia type 7", "equivalent_identifiers": ["MONDO:0012755", "DOID:0050995", "OMIM:611907", "orphanet:209970", "UMLS:C2677843", "MESH:C567459", "SNOMEDCT:718752007", "medgen:383209", "icd11.foundation:1855038011"], "information_content": 100.0}
{"id": "MONDO:0016227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia", "equivalent_identifiers": ["MONDO:0016227", "DOID:963", "OMIM.PS:160120", "orphanet:211062", "EFO:1000638", "UMLS:C1720189", "MESH:C580065", "MEDDRA:10067447", "SNOMEDCT:421455009", "medgen:314033", "icd11.foundation:423095680", "HP:0002131"], "information_content": 84.8}
{"id": "MONDO:0957779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with language delay and variable cognitive abnormalities", "equivalent_identifiers": ["MONDO:0957779", "OMIM:620502", "UMLS:C5882689", "medgen:1850358"], "information_content": 100.0}
{"id": "HP:0000750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Language Delay", "equivalent_identifiers": ["HP:0000750", "UMLS:C0023012", "UMLS:C0233715", "UMLS:C0241210", "UMLS:C0454644", "MEDDRA:10041469", "MEDDRA:10085139", "SNOMEDCT:162294008", "SNOMEDCT:229721007", "SNOMEDCT:29164008", "SNOMEDCT:62415009"], "information_content": 83.6}
{"id": "HP:0040183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Encopresis", "equivalent_identifiers": ["HP:0040183", "UMLS:C2945606", "MEDDRA:10014643", "SNOMEDCT:302690004"], "information_content": 100.0}
{"id": "HP:0012427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased femoral anteversion", "equivalent_identifiers": ["HP:0012427", "UMLS:C4022909"], "information_content": 100.0}
{"id": "MONDO:0008136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated optic nerve hypoplasia", "equivalent_identifiers": ["MONDO:0008136", "DOID:0111531", "OMIM:165550", "orphanet:637061", "UMLS:C0338502", "UMLS:C1833797", "UMLS:C1833798", "UMLS:C4510723", "UMLS:C5936708", "MESH:C563492", "MESH:C563493", "MESH:D000080344", "MEDDRA:10062942", "NCIT:C101268", "NCIT:C98999", "SNOMEDCT:724999003", "SNOMEDCT:95499004", "medgen:322281", "icd11.foundation:609162974", "ICD10:H47.03", "ICD9:377.43", "HP:0000609"], "information_content": 92.8}
{"id": "HP:0000958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dry skin", "equivalent_identifiers": ["HP:0000958", "NCIT:C199484", "NCIT:C74592", "UMLS:C0151908", "UMLS:C0259817", "MEDDRA:10013786", "MEDDRA:10040835", "MEDDRA:10048222", "SNOMEDCT:16386004"], "information_content": 100.0}
{"id": "MONDO:0002265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stereotypic movement disorder", "equivalent_identifiers": ["MONDO:0002265", "DOID:2303", "UMLS:C0038271", "UMLS:C0038273", "MESH:D019956", "MEDDRA:10042005", "MEDDRA:10042008", "MEDDRA:10042009", "SNOMEDCT:5507002", "SNOMEDCT:84328007", "medgen:21320", "ICD10:F98.4", "ICD9:307.3", "HP:0000733"], "information_content": 80.9}
{"id": "MONDO:0013592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychodystrophy", "equivalent_identifiers": ["MONDO:0013592", "DOID:0080087", "OMIM:614149", "UMLS:C0221260", "UMLS:C3279947", "MEDDRA:10028698", "MEDDRA:10073339", "NCIT:C112213", "SNOMEDCT:87065009", "medgen:481577", "HP:0008404"], "information_content": 89.4}
{"id": "MONDO:0859165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities", "equivalent_identifiers": ["MONDO:0859165", "OMIM:619383", "UMLS:C5543591", "medgen:1780615"], "information_content": 100.0}
{"id": "HP:0009937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial hirsutism", "equivalent_identifiers": ["HP:0009937", "UMLS:C1850041", "UMLS:C2128203"], "information_content": 95.4}
{"id": "HP:0002389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cavum septum pellucidum", "equivalent_identifiers": ["HP:0002389", "UMLS:C1840380"], "information_content": 100.0}
{"id": "HP:0002540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inability to walk", "equivalent_identifiers": ["HP:0002540", "UMLS:C0560046", "MEDDRA:10049278", "SNOMEDCT:282145008"], "information_content": 89.4}
{"id": "HP:0001371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contracture", "equivalent_identifiers": ["HP:0001371", "EFO:0003899", "NCIT:C124948", "NCIT:C75585", "UMLS:C0009917", "UMLS:C0009918", "UMLS:C0333068", "UMLS:C1850530", "MEDDRA:10010822", "MEDDRA:10010827", "MEDDRA:10023201", "MEDDRA:10048660", "MEDDRA:10061785", "MEDDRA:10062575", "SNOMEDCT:203598005", "SNOMEDCT:385522000", "SNOMEDCT:55033002", "SNOMEDCT:57048009", "SNOMEDCT:785817002", "SNOMEDCT:7890003", "SNOMEDCT:88565003", "MESH:D003286"], "information_content": 68.9}
{"id": "HP:0002066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gait ataxia", "equivalent_identifiers": ["HP:0002066", "NCIT:C3834", "UMLS:C0235000", "UMLS:C0427154", "UMLS:C0751837", "MEDDRA:10003597", "MEDDRA:10017575", "SNOMEDCT:25136009", "MESH:D020234"], "information_content": 73.6}
{"id": "HP:0000280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coarse facial features", "equivalent_identifiers": ["HP:0000280", "UMLS:C1845847", "UMLS:C4072825", "MESH:C000721322"], "information_content": 92.8}
{"id": "HP:0010761", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad columella", "equivalent_identifiers": ["HP:0010761", "UMLS:C1851059", "UMLS:C4280365"], "information_content": 100.0}
{"id": "HP:0012471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick vermilion border", "equivalent_identifiers": ["HP:0012471", "UMLS:C1836543"], "information_content": 92.8}
{"id": "HP:0001845", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overlapping toe", "equivalent_identifiers": ["HP:0001845", "UMLS:C0920299", "SNOMEDCT:203541003"], "information_content": 100.0}
{"id": "HP:0001583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rotary nystagmus", "equivalent_identifiers": ["HP:0001583", "UMLS:C0240595", "MEDDRA:10078756", "SNOMEDCT:44526006", "SNOMEDCT:95783006"], "information_content": 100.0}
{"id": "HP:0000331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short chin", "equivalent_identifiers": ["HP:0000331", "UMLS:C1839323", "UMLS:C3697248", "SNOMEDCT:699439001"], "information_content": 95.4}
{"id": "HP:0002750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed skeletal maturation", "equivalent_identifiers": ["HP:0002750", "UMLS:C0541764", "UMLS:C4732739", "MEDDRA:10001473", "SNOMEDCT:123983008"], "information_content": 90.9}
{"id": "HP:0002033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor suck", "equivalent_identifiers": ["HP:0002033", "UMLS:C1837142"], "information_content": 92.8}
{"id": "HP:0010557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overlapping fingers", "equivalent_identifiers": ["HP:0010557", "UMLS:C1446712"], "information_content": 100.0}
{"id": "HP:0009891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underdeveloped supraorbital ridges", "equivalent_identifiers": ["HP:0009891", "UMLS:C1861869", "UMLS:C4020777"], "information_content": 100.0}
{"id": "MONDO:0003608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy", "equivalent_identifiers": ["MONDO:0003608", "DOID:5723", "UMLS:C0029124", "MESH:D009896", "MEDDRA:10003714", "MEDDRA:10003715", "MEDDRA:10030910", "MEDDRA:10030912", "NCIT:C34863", "SNOMEDCT:76976005", "medgen:18180", "icd11.foundation:568505454", "ICD10:H47.2", "ICD9:377.1", "HP:0000648"], "information_content": 77.1}
{"id": "HP:0000768", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pectus carinatum", "equivalent_identifiers": ["HP:0000768", "UMLS:C0158731", "MEDDRA:10008504", "MEDDRA:10023325", "MEDDRA:10023326", "MEDDRA:10034203", "MEDDRA:10034205", "MEDDRA:10035010", "MEDDRA:10035011", "SNOMEDCT:205101001", "MESH:D066166"], "information_content": 90.9}
{"id": "HP:0001612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weak cry", "equivalent_identifiers": ["HP:0001612", "UMLS:C0234860", "SNOMEDCT:2120003"], "information_content": 100.0}
{"id": "HP:0000446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow nasal bridge", "equivalent_identifiers": ["HP:0000446", "UMLS:C4020891", "UMLS:C4280630", "UMLS:C4551564"], "information_content": 100.0}
{"id": "HP:0002119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventriculomegaly", "equivalent_identifiers": ["HP:0002119", "UMLS:C3278923"], "information_content": 80.6}
{"id": "HP:0009765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low hanging columella", "equivalent_identifiers": ["HP:0009765", "UMLS:C1850628", "UMLS:C1856119", "UMLS:C4280395"], "information_content": 100.0}
{"id": "HP:0001320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar vermis hypoplasia", "equivalent_identifiers": ["HP:0001320", "UMLS:C1840379"], "information_content": 90.9}
{"id": "HP:0002098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory distress", "equivalent_identifiers": ["HP:0002098", "NCIT:C27165", "UMLS:C0476273", "MEDDRA:10013492", "MEDDRA:10038687", "SNOMEDCT:271825005"], "information_content": 77.8}
{"id": "HP:0000270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed cranial suture closure", "equivalent_identifiers": ["HP:0000270", "UMLS:C0277828", "MEDDRA:10054008", "MEDDRA:10054034", "SNOMEDCT:82779003"], "information_content": 90.9}
{"id": "HP:0012510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extra-axial cerebrospinal fluid accumulation", "equivalent_identifiers": ["HP:0012510", "UMLS:C4022871"], "information_content": 100.0}
{"id": "MONDO:0005045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy", "equivalent_identifiers": ["MONDO:0005045", "DOID:11984", "orphanet:217569", "EFO:0000538", "UMLS:C0007194", "UMLS:C4551472", "MESH:D002312", "MEDDRA:10020204", "MEDDRA:10020871", "MEDDRA:10020876", "MEDDRA:10065229", "MEDDRA:10083664", "NCIT:C34449", "SNOMEDCT:233873004", "SNOMEDCT:45227007", "medgen:2881", "icd11.foundation:1830681485", "ICD9:425.1", "KEGG.DISEASE:05410", "HP:0001639"], "information_content": 69.3}
{"id": "HP:0000348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High forehead", "equivalent_identifiers": ["HP:0000348", "UMLS:C0239676", "UMLS:C2677762"], "information_content": 95.4}
{"id": "HP:0001357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plagiocephaly", "equivalent_identifiers": ["HP:0001357", "UMLS:C0265529", "UMLS:C1450010", "UMLS:C4072830", "UMLS:C4280597", "UMLS:C4280598", "UMLS:C4280807", "UMLS:C4476527", "MEDDRA:10048586", "MEDDRA:10068711", "SNOMEDCT:21850008", "SNOMEDCT:254024005", "MESH:D049068", "MESH:D059041"], "information_content": 92.8}
{"id": "MONDO:0001384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia", "equivalent_identifiers": ["MONDO:0001384", "DOID:11830", "OMIM.PS:160700", "UMLS:C0027092", "MESH:D009216", "MEDDRA:10028651", "MEDDRA:10040599", "MEDDRA:10040601", "MEDDRA:10057905", "NCIT:C102533", "SNOMEDCT:57190000", "medgen:44558", "icd11.foundation:1666440799", "ICD10:H52.1", "ICD9:367.1", "HP:0000545"], "information_content": 77.1}
{"id": "MONDO:0013477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 20", "equivalent_identifiers": ["MONDO:0013477", "DOID:0110326", "OMIM:613876", "UMLS:C3151267", "medgen:462617"], "information_content": 100.0}
{"id": "MONDO:0013469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 38", "equivalent_identifiers": ["MONDO:0013469", "DOID:0110367", "OMIM:613862", "UMLS:C3151228", "medgen:462578"], "information_content": 100.0}
{"id": "HP:0200070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral retinal atrophy", "equivalent_identifiers": ["HP:0200070", "UMLS:C3553016"], "information_content": 100.0}
{"id": "HP:0000529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive visual loss", "equivalent_identifiers": ["HP:0000529", "UMLS:C1839364", "UMLS:C3277697"], "information_content": 95.4}
{"id": "MONDO:0016444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anetoderma", "equivalent_identifiers": ["MONDO:0016444", "orphanet:228272", "UMLS:C0406550", "UMLS:C0423421", "UMLS:C1288283", "MESH:D057088", "MEDDRA:10086123", "NCIT:C133885", "SNOMEDCT:238828009", "SNOMEDCT:238829001", "medgen:98029", "icd11.foundation:308286033", "HP:0007401"], "information_content": 92.8}
{"id": "HP:0000543", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic disc pallor", "equivalent_identifiers": ["HP:0000543", "UMLS:C0554970", "SNOMEDCT:302200001"], "information_content": 89.4}
{"id": "MONDO:0009108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperdibasic aminoaciduria type 1", "equivalent_identifiers": ["MONDO:0009108", "OMIM:222690", "UMLS:C2673736", "MESH:C567132", "medgen:435997", "icd11.foundation:1522058907"], "information_content": 100.0}
{"id": "HP:0003268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Argininuria", "equivalent_identifiers": ["HP:0003268", "UMLS:C4025635"], "information_content": 95.4}
{"id": "HP:0003532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ornithinuria", "equivalent_identifiers": ["HP:0003532", "UMLS:C4025602"], "information_content": 95.4}
{"id": "HP:0002024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malabsorption", "equivalent_identifiers": ["HP:0002024", "NCIT:C113483", "UMLS:C3714745"], "information_content": 84.2}
{"id": "HP:0003168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dibasicaminoaciduria", "equivalent_identifiers": ["HP:0003168", "UMLS:C4025643"], "information_content": 100.0}
{"id": "HP:0003297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperlysinuria", "equivalent_identifiers": ["HP:0003297", "UMLS:C4021733"], "information_content": 95.4}
{"id": "MONDO:0859519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859519", "OMIM:620270", "UMLS:C5830319", "medgen:1840955"], "information_content": 100.0}
{"id": "MONDO:0002905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mutism", "equivalent_identifiers": ["MONDO:0002905", "DOID:4189", "UMLS:C0026884", "MESH:D009155", "MEDDRA:10028403", "SNOMEDCT:88052002", "medgen:6476", "icd11.foundation:1275861519", "HP:0002300"], "information_content": 90.9}
{"id": "HP:0033725", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin corpus callosum", "equivalent_identifiers": ["HP:0033725", "UMLS:C5441562"], "information_content": 84.8}
{"id": "HP:0000752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperactivity", "equivalent_identifiers": ["HP:0000752", "NCIT:C34706", "UMLS:C0424295", "MEDDRA:10004205", "MEDDRA:10004208", "MEDDRA:10020554", "MEDDRA:10020558", "SNOMEDCT:44548000"], "information_content": 92.8}
{"id": "HP:0002254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent diarrhea", "equivalent_identifiers": ["HP:0002254", "UMLS:C0239181"], "information_content": 100.0}
{"id": "HP:0002451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb dystonia", "equivalent_identifiers": ["HP:0002451", "UMLS:C0751093"], "information_content": 92.8}
{"id": "MONDO:0005486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis", "equivalent_identifiers": ["MONDO:0005486", "DOID:0050591", "OMIM.PS:106600", "orphanet:99798", "EFO:0005410", "UMLS:C0020608", "MEDDRA:10055001", "MEDDRA:10055073", "NCIT:C171426", "SNOMEDCT:64969001", "medgen:43794", "icd11.foundation:1559717619", "ICD10:K00.0", "ICD9:520.0", "HP:0000668"], "information_content": 83.1}
{"id": "MONDO:0005030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal growth restriction", "equivalent_identifiers": ["MONDO:0005030", "EFO:0000495", "UMLS:C0015934", "UMLS:C0021296", "UMLS:C1386048", "UMLS:C1855652", "MESH:D005317", "MESH:D007236", "MEDDRA:10016497", "MEDDRA:10016498", "MEDDRA:10016857", "MEDDRA:10022819", "MEDDRA:10041092", "MEDDRA:10041196", "MEDDRA:10048488", "MEDDRA:10048489", "MEDDRA:10054746", "MEDDRA:10055695", "MEDDRA:10055696", "MEDDRA:10070531", "MEDDRA:10070532", "MEDDRA:10071034", "NCIT:C114875", "SNOMEDCT:199612005", "SNOMEDCT:22033007", "medgen:4693", "HP:0001511"], "information_content": 89.4}
{"id": "HP:0005616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accelerated skeletal maturation", "equivalent_identifiers": ["HP:0005616", "UMLS:C0545053", "MEDDRA:10077990", "SNOMEDCT:123982003"], "information_content": 92.8}
{"id": "HP:0001337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tremor", "equivalent_identifiers": ["HP:0001337", "NCIT:C38038", "UMLS:C0040822", "UMLS:C0234369", "UMLS:C1527384", "MEDDRA:10040528", "MEDDRA:10044562", "MEDDRA:10044563", "MEDDRA:10044565", "SNOMEDCT:26079004", "SNOMEDCT:267079009", "MESH:D014202"], "information_content": 78.3}
{"id": "MONDO:0010321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, X-linked 1", "equivalent_identifiers": ["MONDO:0010321", "OMIM:300425", "UMLS:C1845540", "medgen:335205"], "information_content": 100.0}
{"id": "HP:0002353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG abnormality", "equivalent_identifiers": ["HP:0002353", "NCIT:C181779", "UMLS:C0151611", "MEDDRA:10000127", "MEDDRA:10000130", "MEDDRA:10013216", "MEDDRA:10014276", "MEDDRA:10014408", "SNOMEDCT:274521009"], "information_content": 69.7}
{"id": "HP:0002332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lack of peer relationships", "equivalent_identifiers": ["HP:0002332", "UMLS:C1845337"], "information_content": 100.0}
{"id": "HP:0003144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum serotonin", "equivalent_identifiers": ["HP:0003144", "UMLS:C0877243", "MEDDRA:10049529"], "information_content": 100.0}
{"id": "MONDO:0005260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism", "equivalent_identifiers": ["MONDO:0005260", "DOID:12849", "OMIM:209850", "EFO:0003758", "UMLS:C0004352", "MESH:D001321", "MEDDRA:10003805", "MEDDRA:10003806", "MEDDRA:10003808", "MEDDRA:10008520", "MEDDRA:10014043", "MEDDRA:10021737", "MEDDRA:10023277", "NCIT:C97161", "SNOMEDCT:408856003", "SNOMEDCT:408857007", "SNOMEDCT:43614003", "medgen:13966", "ICD10:F84.0", "ICD9:299.0", "HP:0000717"], "information_content": 77.3}
{"id": "HP:0000723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restrictive behavior", "equivalent_identifiers": ["HP:0000723", "UMLS:C2675334", "UMLS:C4021799"], "information_content": 100.0}
{"id": "HP:0000758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nonverbal communicative behavior", "equivalent_identifiers": ["HP:0000758", "UMLS:C4021798"], "information_content": 79.0}
{"id": "HP:0000732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inflexible adherence to routines", "equivalent_identifiers": ["HP:0000732", "UMLS:C1837653", "UMLS:C5826341"], "information_content": 100.0}
{"id": "HP:0000721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lack of spontaneous play", "equivalent_identifiers": ["HP:0000721", "UMLS:C1837650"], "information_content": 100.0}
{"id": "MONDO:0060760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0060760", "DOID:0061129", "OMIM:618089", "UMLS:C4748135", "medgen:1648498"], "information_content": 100.0}
{"id": "HP:0004442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sagittal craniosynostosis", "equivalent_identifiers": ["HP:0004442", "UMLS:C0432123", "SNOMEDCT:109418001"], "information_content": 95.4}
{"id": "MONDO:0007125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankyloglossia", "equivalent_identifiers": ["MONDO:0007125", "DOID:0060604", "OMIM:106280", "UMLS:C0152415", "UMLS:C4759698", "MESH:C562396", "MESH:D000072676", "MEDDRA:10043987", "MEDDRA:10049244", "MEDDRA:10088611", "NCIT:C124538", "SNOMEDCT:67787004", "medgen:56288", "icd11.foundation:1838543063", "ICD10:Q38.1", "HP:0010296"], "information_content": 100.0}
{"id": "HP:0000915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pectus excavatum of inferior sternum", "equivalent_identifiers": ["HP:0000915", "UMLS:C1864796"], "information_content": 100.0}
{"id": "HP:0002553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Highly arched eyebrow", "equivalent_identifiers": ["HP:0002553", "UMLS:C1868571", "UMLS:C4020849"], "information_content": 100.0}
{"id": "HP:0000098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tall stature", "equivalent_identifiers": ["HP:0000098", "UMLS:C0241240", "MEDDRA:10052398", "SNOMEDCT:248328003"], "information_content": 71.1}
{"id": "MONDO:0001210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enophthalmos", "equivalent_identifiers": ["MONDO:0001210", "DOID:11175", "UMLS:C0014306", "UMLS:C0423224", "MESH:D015841", "MEDDRA:10014853", "MEDDRA:10014857", "MEDDRA:10016013", "MEDDRA:10042497", "NCIT:C79552", "SNOMEDCT:246923005", "SNOMEDCT:80093006", "medgen:473112", "ICD10:H05.4", "ICD9:376.5", "HP:0000490"], "information_content": 100.0}
{"id": "HP:0001065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Striae", "equivalent_identifiers": ["HP:0001065", "NCIT:C78631", "NCIT:C92857", "UMLS:C0152459", "UMLS:C0344310", "MEDDRA:10040925", "MEDDRA:10042222", "MEDDRA:10042223", "MEDDRA:10042224", "MEDDRA:10042225", "MEDDRA:10042226", "MEDDRA:10042227", "MEDDRA:10057065", "SNOMEDCT:201066002", "SNOMEDCT:201067006", "SNOMEDCT:271674009", "SNOMEDCT:47212006", "MESH:D057896"], "information_content": 100.0}
{"id": "HP:0033454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tube feeding", "equivalent_identifiers": ["HP:0033454"], "information_content": 89.4}
{"id": "HP:0001182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapered finger", "equivalent_identifiers": ["HP:0001182", "UMLS:C0426886", "SNOMEDCT:249768009"], "information_content": 100.0}
{"id": "HP:0011003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High myopia", "equivalent_identifiers": ["HP:0011003", "UMLS:C0271183", "MEDDRA:10090867", "SNOMEDCT:34187009"], "information_content": 100.0}
{"id": "HP:0001852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandal gap", "equivalent_identifiers": ["HP:0001852", "UMLS:C1840069"], "information_content": 100.0}
{"id": "MONDO:0004770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exophthalmos", "equivalent_identifiers": ["MONDO:0004770", "UMLS:C0015300", "UMLS:C1837760", "UMLS:C1848490", "UMLS:C1862425", "MESH:D005094", "MEDDRA:10006548", "MEDDRA:10015683", "MEDDRA:10015685", "MEDDRA:10015687", "MEDDRA:10036905", "NCIT:C118763", "NCIT:C87114", "SNOMEDCT:18265008", "medgen:41917", "HP:0000520"], "information_content": 84.8}
{"id": "HP:0000248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachycephaly", "equivalent_identifiers": ["HP:0000248", "UMLS:C0221356", "UMLS:C4072823", "UMLS:C4072824", "MEDDRA:10053682", "SNOMEDCT:13649004"], "information_content": 90.9}
{"id": "HP:0000337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad forehead", "equivalent_identifiers": ["HP:0000337", "UMLS:C1849089"], "information_content": 100.0}
{"id": "HP:0000975", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperhidrosis", "equivalent_identifiers": ["HP:0000975", "NCIT:C35051", "NCIT:C36172", "NCIT:C78345", "UMLS:C0020458", "UMLS:C0038990", "UMLS:C0700590", "MEDDRA:10012703", "MEDDRA:10013635", "MEDDRA:10015590", "MEDDRA:10019362", "MEDDRA:10020642", "MEDDRA:10034734", "MEDDRA:10042661", "MEDDRA:10042667", "SNOMEDCT:161857006", "SNOMEDCT:312230002", "SNOMEDCT:364538006", "SNOMEDCT:415690000", "SNOMEDCT:415691001", "SNOMEDCT:52613005", "MESH:D006945", "MESH:D013546"], "information_content": 70.0}
{"id": "HP:0000736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short attention span", "equivalent_identifiers": ["HP:0000736", "UMLS:C0262630", "SNOMEDCT:247762003"], "information_content": 95.4}
{"id": "HP:0000455", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad nasal tip", "equivalent_identifiers": ["HP:0000455", "UMLS:C0426429", "SNOMEDCT:249327002"], "information_content": 100.0}
{"id": "HP:0000179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Full lower lip", "equivalent_identifiers": ["HP:0000179", "UMLS:C1839739", "UMLS:C2053437"], "information_content": 100.0}
{"id": "HP:0000457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depressed nasal ridge", "equivalent_identifiers": ["HP:0000457", "UMLS:C1842876"], "information_content": 100.0}
{"id": "HP:0002236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hair whorls", "equivalent_identifiers": ["HP:0002236", "UMLS:C1185616", "UMLS:C1841698", "UMLS:C2675540", "UMLS:C3275754"], "information_content": 100.0}
{"id": "HP:0001166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arachnodactyly", "equivalent_identifiers": ["HP:0001166", "UMLS:C0003706", "MEDDRA:10063847", "SNOMEDCT:62250003", "MESH:D054119"], "information_content": 100.0}
{"id": "HP:0004279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short palm", "equivalent_identifiers": ["HP:0004279", "UMLS:C1843108", "UMLS:C4552108", "UMLS:C4703377"], "information_content": 100.0}
{"id": "HP:0002376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Developmental regression", "equivalent_identifiers": ["HP:0002376", "NCIT:C118200", "UMLS:C1836550", "UMLS:C1836830", "UMLS:C1850493", "UMLS:C1855009", "UMLS:C1855019", "UMLS:C1855996", "UMLS:C1857121", "UMLS:C1859678", "UMLS:C5394363", "MEDDRA:10076709", "SNOMEDCT:609225004"], "information_content": 92.8}
{"id": "HP:0000232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Everted lower lip vermilion", "equivalent_identifiers": ["HP:0000232", "UMLS:C1853246", "UMLS:C1866234", "SNOMEDCT:767502001"], "information_content": 100.0}
{"id": "MONDO:0004979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asthma", "equivalent_identifiers": ["MONDO:0004979", "DOID:2841", "UMLS:C0004096", "UMLS:C0085129", "UMLS:C0340062", "UMLS:C3714497", "MESH:D001249", "MESH:D016535", "MEDDRA:10003553", "MEDDRA:10003555", "MEDDRA:10003560", "MEDDRA:10003561", "MEDDRA:10003565", "MEDDRA:10006450", "MEDDRA:10037993", "MEDDRA:10056285", "MEDDRA:10066091", "MEDDRA:10066863", "MEDDRA:10082852", "NCIT:C28397", "SNOMEDCT:195967001", "SNOMEDCT:991000119106", "medgen:2109", "icd11.foundation:1656445230", "ICD10:J45", "ICD9:493", "KEGG.DISEASE:05310", "HP:0002099"], "information_content": 77.3}
{"id": "HP:0003100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender long bone", "equivalent_identifiers": ["HP:0003100", "UMLS:C1833144"], "information_content": 85.5}
{"id": "HP:0010812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short uvula", "equivalent_identifiers": ["HP:0010812", "UMLS:C1401781"], "information_content": 100.0}
{"id": "HP:0011229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad eyebrow", "equivalent_identifiers": ["HP:0011229", "UMLS:C1856121"], "information_content": 90.9}
{"id": "HP:0000629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Puffy eyes", "equivalent_identifiers": ["HP:0000629", "UMLS:C1858036", "UMLS:C4760994", "MEDDRA:10082020"], "information_content": 100.0}
{"id": "HP:0002007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal bossing", "equivalent_identifiers": ["HP:0002007", "NCIT:C98242", "UMLS:C0221354", "MEDDRA:10073035", "SNOMEDCT:90145001"], "information_content": 95.4}
{"id": "HP:0009836", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad distal phalanx of finger", "equivalent_identifiers": ["HP:0009836", "UMLS:C1850630"], "information_content": 86.3}
{"id": "MONDO:0005160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm", "equivalent_identifiers": ["MONDO:0005160", "DOID:3627", "EFO:0001666", "UMLS:C0003486", "UMLS:C0265004", "UMLS:C0265010", "UMLS:C0265012", "UMLS:C0741160", "UMLS:C1305122", "MESH:D001014", "MEDDRA:10000053", "MEDDRA:10002330", "MEDDRA:10002339", "MEDDRA:10002882", "MEDDRA:10002884", "MEDDRA:10002886", "MEDDRA:10043464", "MEDDRA:10043481", "MEDDRA:10051355", "MEDDRA:10057453", "MEDDRA:10058293", "NCIT:C187666", "NCIT:C196716", "NCIT:C26697", "NCIT:C27046", "NCIT:C27198", "NCIT:C27299", "SNOMEDCT:14336007", "SNOMEDCT:195258006", "SNOMEDCT:195265003", "SNOMEDCT:26660001", "SNOMEDCT:67362008", "SNOMEDCT:73067008", "medgen:362", "ICD10:I71.1", "ICD10:I71.3", "ICD10:I71.5", "ICD10:I71.8", "ICD10:I71.9", "ICD9:441.1", "ICD9:441.3", "ICD9:441.5", "ICD9:441.6", "HP:0004942"], "information_content": 81.7}
{"id": "HP:0001770", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toe syndactyly", "equivalent_identifiers": ["HP:0001770", "UMLS:C0265660", "MEDDRA:10043926"], "information_content": 80.9}
{"id": "HP:0001773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short foot", "equivalent_identifiers": ["HP:0001773", "UMLS:C1848673"], "information_content": 100.0}
{"id": "MONDO:0017987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syringomyelia", "equivalent_identifiers": ["MONDO:0017987", "DOID:327", "orphanet:3280", "UMLS:C0039144", "UMLS:C1522522", "MESH:D013595", "MEDDRA:10042928", "NCIT:C85179", "SNOMEDCT:111496009", "medgen:21449", "icd11.foundation:1161887622", "HP:0003396"], "information_content": 88.2}
{"id": "HP:0045075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse eyebrow", "equivalent_identifiers": ["HP:0045075", "UMLS:C1832446"], "information_content": 92.8}
{"id": "HP:0001090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrophthalmus", "equivalent_identifiers": ["HP:0001090", "UMLS:C0423221", "UMLS:C0431451", "UMLS:C1855852", "UMLS:C4280603", "MEDDRA:10087144", "SNOMEDCT:246920008", "SNOMEDCT:93181004"], "information_content": 92.8}
{"id": "HP:0000319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smooth philtrum", "equivalent_identifiers": ["HP:0000319", "UMLS:C1142533", "MEDDRA:10058844"], "information_content": 100.0}
{"id": "HP:0001769", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad foot", "equivalent_identifiers": ["HP:0001769", "UMLS:C1866241"], "information_content": 100.0}
{"id": "HP:0031354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleep onset insomnia", "equivalent_identifiers": ["HP:0031354", "NCIT:C35581", "UMLS:C0393760", "MEDDRA:10022035", "MEDDRA:10044698", "SNOMEDCT:59050008"], "information_content": 100.0}
{"id": "HP:0005617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral camptodactyly", "equivalent_identifiers": ["HP:0005617", "UMLS:C4021830"], "information_content": 100.0}
{"id": "MONDO:0002076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pneumothorax", "equivalent_identifiers": ["MONDO:0002076", "DOID:1673", "UMLS:C0029850", "UMLS:C0032326", "MESH:D011030", "MEDDRA:10035759", "MEDDRA:10035762", "NCIT:C38006", "SNOMEDCT:36118008", "medgen:19365", "icd11.foundation:1946559257", "ICD10:J93.1", "HP:0002107"], "information_content": 88.2}
{"id": "HP:0000325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular face", "equivalent_identifiers": ["HP:0000325", "UMLS:C1835884"], "information_content": 100.0}
{"id": "MONDO:0002660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharochalasis", "equivalent_identifiers": ["MONDO:0002660", "DOID:348", "UMLS:C0005742", "MEDDRA:10005152", "SNOMEDCT:47704002", "medgen:14154", "icd11.foundation:583527617", "ICD10:H02.3", "ICD9:374.34", "HP:0010749"], "information_content": 100.0}
{"id": "MONDO:0007501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ear Dimple", "equivalent_identifiers": ["MONDO:0007501", "OMIM:128700", "UMLS:C0266610", "UMLS:C0266625", "UMLS:C0546969", "MESH:C563015", "MEDDRA:10036479", "MEDDRA:10078780", "MEDDRA:10083197", "NCIT:C87071", "SNOMEDCT:1955003", "SNOMEDCT:204271000", "SNOMEDCT:204272007", "SNOMEDCT:716577004", "medgen:154283", "HP:0004467"], "information_content": 100.0}
{"id": "MONDO:0008105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bulbous nose", "equivalent_identifiers": ["MONDO:0008105", "OMIM:164000", "UMLS:C0240543", "UMLS:C1834118", "UMLS:C1855751", "MESH:C538354", "medgen:331668", "HP:0000414"], "information_content": 100.0}
{"id": "HP:0001869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep plantar creases", "equivalent_identifiers": ["HP:0001869", "UMLS:C1857953"], "information_content": 92.8}
{"id": "HP:0001500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad finger", "equivalent_identifiers": ["HP:0001500", "UMLS:C1844906"], "information_content": 77.8}
{"id": "HP:0000411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protruding ear", "equivalent_identifiers": ["HP:0000411", "UMLS:C1305420", "UMLS:C1855285", "SNOMEDCT:275478007"], "information_content": 95.4}
{"id": "MONDO:0007473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duane Syndrome", "equivalent_identifiers": ["MONDO:0007473", "DOID:12557", "OMIM.PS:126800", "orphanet:233", "UMLS:C0013261", "UMLS:C1846464", "UMLS:C4072873", "MESH:D004370", "MEDDRA:10013799", "MEDDRA:10090415", "MEDDRA:10090416", "NCIT:C84678", "SNOMEDCT:60318001", "medgen:4413", "ICD10:H50.81", "ICD9:378.71", "HP:0009921"], "information_content": 89.4}
{"id": "HP:0031936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ability to walk", "equivalent_identifiers": ["HP:0031936", "UMLS:C0241726"], "information_content": 100.0}
{"id": "HP:0000276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long face", "equivalent_identifiers": ["HP:0000276", "UMLS:C1836047"], "information_content": 95.4}
{"id": "HP:0011271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent tragus", "equivalent_identifiers": ["HP:0011271", "UMLS:C4021171"], "information_content": 100.0}
{"id": "HP:0000426", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent nasal bridge", "equivalent_identifiers": ["HP:0000426", "UMLS:C1854113", "UMLS:C4230640"], "information_content": 95.4}
{"id": "HP:0000307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pointed chin", "equivalent_identifiers": ["HP:0000307", "UMLS:C1844505"], "information_content": 100.0}
{"id": "HP:0002967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cubitus valgus", "equivalent_identifiers": ["HP:0002967", "UMLS:C0158465", "MEDDRA:10011616", "SNOMEDCT:54583007"], "information_content": 100.0}
{"id": "HP:0200055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small hand", "equivalent_identifiers": ["HP:0200055", "UMLS:C0575802", "SNOMEDCT:299032009"], "information_content": 100.0}
{"id": "MONDO:0008312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant prognathism", "equivalent_identifiers": ["MONDO:0008312", "OMIM:176700", "orphanet:2964", "UMLS:C0302501", "UMLS:C0399526", "UMLS:C2227134", "UMLS:C4280644", "UMLS:C4280645", "MESH:D008313", "MEDDRA:10026741", "MEDDRA:10069004", "MEDDRA:10069006", "SNOMEDCT:109504005", "SNOMEDCT:22810007", "medgen:98316", "HP:0000303"], "information_content": 95.4}
{"id": "MONDO:0012756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal 16p11.2 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0012756", "DOID:0070515", "OMIM:611913", "orphanet:261197", "UMLS:C3150154", "UMLS:C3697355", "UMLS:C4273657", "MESH:C579850", "NCIT:C120408", "SNOMEDCT:699307007", "SNOMEDCT:718227006", "medgen:461504"], "information_content": 100.0}
{"id": "HP:0008872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Feeding difficulties in infancy", "equivalent_identifiers": ["HP:0008872", "UMLS:C2674608"], "information_content": 86.3}
{"id": "MONDO:0007488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lewy Bodies", "equivalent_identifiers": ["MONDO:0007488", "DOID:12217", "OMIM:127750", "EFO:0006792", "UMLS:C0085200", "UMLS:C0752347", "UMLS:C1851957", "UMLS:C1851958", "MESH:C565077", "MESH:C565078", "MESH:D020961", "MEDDRA:10057095", "MEDDRA:10067889", "NCIT:C84826", "SNOMEDCT:312991009", "SNOMEDCT:43127003", "SNOMEDCT:80098002", "medgen:199874", "ICD10:G31.83", "ICD9:331.82", "HP:0100315"], "information_content": 90.9}
{"id": "HP:0002367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual hallucination", "equivalent_identifiers": ["HP:0002367", "NCIT:C118179", "UMLS:C0233763", "MEDDRA:10019068", "MEDDRA:10019075", "MEDDRA:10047570", "SNOMEDCT:64269007"], "information_content": 95.4}
{"id": "MONDO:0021095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinsonism", "equivalent_identifiers": ["MONDO:0021095", "DOID:0080855", "UMLS:C0242422", "MESH:D020734", "MEDDRA:10034010", "MEDDRA:10073684", "NCIT:C116922", "SNOMEDCT:32798002", "medgen:66079", "HP:0001300"], "information_content": 73.0}
{"id": "HP:0000746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delusion", "equivalent_identifiers": ["HP:0000746", "NCIT:C26741", "UMLS:C0011253", "MEDDRA:10012239", "MEDDRA:10012240", "MEDDRA:10012259", "MEDDRA:10012260", "SNOMEDCT:2073000", "MESH:D003702"], "information_content": 79.9}
{"id": "HP:0007159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fluctuations in consciousness", "equivalent_identifiers": ["HP:0007159", "UMLS:C1851959"], "information_content": 100.0}
{"id": "MONDO:0054581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Townes-Brocks syndrome 1", "equivalent_identifiers": ["MONDO:0054581", "OMIM:107480", "UMLS:C1862683", "UMLS:C4551481", "MESH:C566272", "medgen:1635275"], "information_content": 100.0}
{"id": "HP:0011939", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-4 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0011939", "UMLS:C4023115"], "information_content": 100.0}
{"id": "MONDO:0008269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly of a biphalangeal thumb", "equivalent_identifiers": ["MONDO:0008269", "DOID:0060987", "OMIM:174400", "orphanet:93339", "UMLS:C1395852", "MESH:C536332", "SNOMEDCT:445216006", "medgen:237235", "HP:0001177"], "information_content": 92.8}
{"id": "MONDO:0001046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anus absent", "equivalent_identifiers": ["MONDO:0001046", "DOID:10488", "OMIM:207500", "OMIM:301800", "UMLS:C0003466", "UMLS:C0577037", "MESH:D001006", "MEDDRA:10002120", "MEDDRA:10002853", "MEDDRA:10010330", "MEDDRA:10021528", "NCIT:C84784", "SNOMEDCT:204712000", "SNOMEDCT:204731006", "SNOMEDCT:300315008", "medgen:1997", "icd11.foundation:515168801", "ICD10:Q42.3", "HP:0002023"], "information_content": 95.4}
{"id": "MONDO:0006995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tethered cord", "equivalent_identifiers": ["MONDO:0006995", "DOID:1089", "EFO:1001210", "UMLS:C0080218", "UMLS:C0560648", "MEDDRA:10066334", "MEDDRA:10077133", "NCIT:C99080", "SNOMEDCT:249491000119100", "SNOMEDCT:70534000", "medgen:36387", "HP:0002144"], "information_content": 100.0}
{"id": "MONDO:0001106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney failure", "equivalent_identifiers": ["MONDO:0001106", "DOID:1074", "EFO:1002048", "UMLS:C0035078", "UMLS:C1565489", "UMLS:C1839604", "MESH:D051437", "MEDDRA:10016149", "MEDDRA:10021523", "MEDDRA:10022467", "MEDDRA:10023418", "MEDDRA:10038435", "MEDDRA:10038448", "MEDDRA:10038449", "MEDDRA:10038450", "MEDDRA:10038469", "MEDDRA:10038474", "MEDDRA:10062237", "NCIT:C114592", "NCIT:C4376", "SNOMEDCT:236423003", "SNOMEDCT:42399005", "SNOMEDCT:723188008", "medgen:11177", "icd11.foundation:761526554", "ICD10:N19", "ICD9:586", "HP:0000083"], "information_content": 75.3}
{"id": "HP:0010331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the 3rd toe", "equivalent_identifiers": ["HP:0010331", "UMLS:C1862698"], "information_content": 83.6}
{"id": "MONDO:0001150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus", "equivalent_identifiers": ["MONDO:0001150", "DOID:10908", "UMLS:C0020255", "MESH:D006849", "MEDDRA:10020508", "MEDDRA:10020512", "MEDDRA:10020513", "NCIT:C3111", "SNOMEDCT:230745008", "medgen:9335", "icd11.foundation:574533444", "ICD10:G91", "HP:0000238"], "information_content": 78.5}
{"id": "HP:0009944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial duplication of thumb phalanx", "equivalent_identifiers": ["HP:0009944", "UMLS:C4082168"], "information_content": 92.8}
{"id": "MONDO:0012155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choanal atresia", "equivalent_identifiers": ["MONDO:0012155", "DOID:9574", "OMIM:608911", "orphanet:137914", "UMLS:C0008297", "UMLS:C0220723", "MESH:C562435", "MESH:D002754", "MEDDRA:10008587", "SNOMEDCT:204508009", "medgen:3395", "icd11.foundation:2099486655", "ICD10:Q30.0", "ICD9:748.0", "HP:0000453"], "information_content": 89.4}
{"id": "HP:0004453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overfolding of the superior helices", "equivalent_identifiers": ["HP:0004453", "UMLS:C1865304"], "information_content": 100.0}
{"id": "HP:0004692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "4-5 toe syndactyly", "equivalent_identifiers": ["HP:0004692", "UMLS:C1837836"], "information_content": 89.4}
{"id": "HP:0004691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-3 toe syndactyly", "equivalent_identifiers": ["HP:0004691", "UMLS:C4551570"], "information_content": 88.2}
{"id": "HP:0010711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-2 toe syndactyly", "equivalent_identifiers": ["HP:0010711", "UMLS:C4023726"], "information_content": 90.9}
{"id": "HP:0010481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethral valve", "equivalent_identifiers": ["HP:0010481", "UMLS:C0266345", "MEDDRA:10046479", "SNOMEDCT:297163001"], "information_content": 95.4}
{"id": "HP:0100015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stahl ear", "equivalent_identifiers": ["HP:0100015", "UMLS:C1862689", "MEDDRA:10083305", "SNOMEDCT:253252004"], "information_content": 100.0}
{"id": "HP:0001537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Umbilical hernia", "equivalent_identifiers": ["HP:0001537", "NCIT:C118375", "UMLS:C0019322", "UMLS:C1306503", "MEDDRA:10015677", "MEDDRA:10045458", "MEDDRA:10045459", "MEDDRA:10045461", "SNOMEDCT:396347007", "MESH:D006554"], "information_content": 92.8}
{"id": "HP:0009779", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-4 toe syndactyly", "equivalent_identifiers": ["HP:0009779", "UMLS:C1834062"], "information_content": 88.2}
{"id": "MONDO:0015988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicystic dysplastic kidney", "equivalent_identifiers": ["MONDO:0015988", "orphanet:1851", "UMLS:C3714581", "MESH:D021782", "MEDDRA:10078248", "NCIT:C123031", "SNOMEDCT:204962002", "SNOMEDCT:737562008", "medgen:811388", "icd11.foundation:1178642763", "HP:0000003"], "information_content": 92.8}
{"id": "MONDO:0020354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fundus coloboma", "equivalent_identifiers": ["MONDO:0020354", "orphanet:98942", "UMLS:C0239054", "UMLS:C0240896", "UMLS:C4708599", "MEDDRA:10017522", "MEDDRA:10057402", "SNOMEDCT:204192005", "SNOMEDCT:39302008", "SNOMEDCT:768932000", "medgen:1643994", "icd11.foundation:20223105", "HP:0000567"], "information_content": 95.4}
{"id": "MONDO:0008270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly of a triphalangeal thumb", "equivalent_identifiers": ["MONDO:0008270", "DOID:0060986", "OMIM:174500", "orphanet:93336", "UMLS:C0241397", "UMLS:C1868114", "MESH:C573898", "SNOMEDCT:205308004", "SNOMEDCT:715710001", "medgen:357423", "icd11.foundation:728781925", "HP:0001199"], "information_content": 90.9}
{"id": "HP:0000384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ear Tag", "equivalent_identifiers": ["HP:0000384", "NCIT:C98919", "UMLS:C1860816", "UMLS:C4072826", "MEDDRA:10072190"], "information_content": 100.0}
{"id": "HP:0030676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Satyr ear", "equivalent_identifiers": ["HP:0030676", "UMLS:C4048833"], "information_content": 100.0}
{"id": "HP:0010743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short metatarsal", "equivalent_identifiers": ["HP:0010743", "UMLS:C1849020"], "information_content": 87.2}
{"id": "HP:0006179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphyses of second metacarpal", "equivalent_identifiers": ["HP:0006179", "UMLS:C1862693"], "information_content": 100.0}
{"id": "HP:0000136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid uterus", "equivalent_identifiers": ["HP:0000136", "UMLS:C1850327"], "information_content": 95.4}
{"id": "HP:0001864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 5th toe", "equivalent_identifiers": ["HP:0001864", "UMLS:C4025741", "UMLS:C4280586"], "information_content": 100.0}
{"id": "MONDO:0024519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal dysplasia", "equivalent_identifiers": ["MONDO:0024519", "OMIM:191830", "UMLS:C1619700", "UMLS:C3536714", "MESH:C563261", "MEDDRA:10010610", "MEDDRA:10038433", "MEDDRA:10064655", "SNOMEDCT:204949001", "medgen:301437", "HP:0000110"], "information_content": 92.8}
{"id": "MONDO:0008586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal atresia/tracheoesophageal fistula", "equivalent_identifiers": ["MONDO:0008586", "DOID:0080171", "OMIM:189960", "orphanet:1199", "UMLS:C0040588", "UMLS:C1861028", "UMLS:C4732737", "MESH:C531835", "MESH:D014138", "MEDDRA:10044310", "MEDDRA:10044311", "MEDDRA:10044317", "MEDDRA:10072784", "SNOMEDCT:95435007", "medgen:21228", "icd11.foundation:1582061097", "HP:0002575"], "information_content": 95.4}
{"id": "HP:0001440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metatarsal synostosis", "equivalent_identifiers": ["HP:0001440", "UMLS:C1862697"], "information_content": 85.5}
{"id": "HP:0001883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talipes", "equivalent_identifiers": ["HP:0001883", "UMLS:C1301937", "UMLS:C3552713", "MEDDRA:10043101", "MEDDRA:10043110", "SNOMEDCT:398309008", "MESH:D000070558"], "information_content": 85.5}
{"id": "MONDO:0016296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly", "equivalent_identifiers": ["MONDO:0016296", "DOID:4621", "OMIM.PS:236100", "orphanet:2162", "UMLS:C0079541", "MESH:D016142", "MEDDRA:10056304", "NCIT:C74988", "SNOMEDCT:30915001", "medgen:38214", "icd11.foundation:1712699129", "ICD10:Q04.2", "HP:0001360"], "information_content": 80.2}
{"id": "HP:0000394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lop ear", "equivalent_identifiers": ["HP:0000394", "UMLS:C0266614", "MEDDRA:10004180", "MEDDRA:10071239", "SNOMEDCT:76223006"], "information_content": 100.0}
{"id": "HP:0004792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectoperineal fistula", "equivalent_identifiers": ["HP:0004792", "UMLS:C0240880"], "information_content": 100.0}
{"id": "HP:0011304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad thumb", "equivalent_identifiers": ["HP:0011304", "UMLS:C0426891", "SNOMEDCT:249773003"], "information_content": 90.9}
{"id": "MONDO:0008542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetralogy of fallot", "equivalent_identifiers": ["MONDO:0008542", "DOID:6419", "OMIM:187500", "orphanet:3303", "UMLS:C0039685", "MESH:D013771", "MEDDRA:10016191", "MEDDRA:10016192", "MEDDRA:10016193", "MEDDRA:10043384", "NCIT:C84505", "SNOMEDCT:86299006", "medgen:21498", "icd11.foundation:90973426", "ICD10:Q21.3", "ICD9:745.2", "HP:0001636"], "information_content": 87.2}
{"id": "MONDO:0009126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal atresia", "equivalent_identifiers": ["MONDO:0009126", "DOID:0080216", "OMIM:223400", "orphanet:1203", "UMLS:C0266174", "UMLS:C2930994", "MESH:C535720", "MEDDRA:10013812", "MEDDRA:10013813", "NCIT:C101025", "SNOMEDCT:51118003", "medgen:75602", "HP:0002247"], "information_content": 95.4}
{"id": "MONDO:0044305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 13, hair/tooth type", "equivalent_identifiers": ["MONDO:0044305", "DOID:0111650", "OMIM:617392", "UMLS:C4479322", "medgen:1387448"], "information_content": 100.0}
{"id": "HP:0002299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brittle hair", "equivalent_identifiers": ["HP:0002299", "UMLS:C0263490", "UMLS:C1851868", "UMLS:C1970705", "UMLS:C4072837", "MEDDRA:10079310", "SNOMEDCT:25159003"], "information_content": 95.4}
{"id": "MONDO:0019287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0019287", "DOID:2121", "OMIM.PS:305100", "orphanet:79373", "UMLS:C0013575", "MESH:D004476", "MEDDRA:10010452", "NCIT:C84683", "SNOMEDCT:254154003", "SNOMEDCT:8654005", "medgen:8544", "icd11.foundation:1156567558", "ICD9:757.31", "HP:0000968"], "information_content": 65.0}
{"id": "HP:0000294", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low anterior hairline", "equivalent_identifiers": ["HP:0000294", "UMLS:C1842366"], "information_content": 100.0}
{"id": "HP:0000653", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse eyelashes", "equivalent_identifiers": ["HP:0000653", "UMLS:C1843300", "MEDDRA:10069933"], "information_content": 92.8}
{"id": "HP:0045074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin eyebrow", "equivalent_identifiers": ["HP:0045074", "UMLS:C4281771"], "information_content": 100.0}
{"id": "HP:0000677", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oligodontia", "equivalent_identifiers": ["HP:0000677", "UMLS:C4082304", "UMLS:C4280619", "MEDDRA:10088239", "SNOMEDCT:787414001"], "information_content": 95.4}
{"id": "MONDO:0024771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, distal, 7, adult-onset, X-linked", "equivalent_identifiers": ["MONDO:0024771", "OMIM:301075", "UMLS:C5676880", "medgen:1808663"], "information_content": 100.0}
{"id": "HP:0031318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myofiber disarray", "equivalent_identifiers": ["HP:0031318", "UMLS:C3671015"], "information_content": 100.0}
{"id": "HP:0003687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Centrally nucleated skeletal muscle fibers", "equivalent_identifiers": ["HP:0003687", "UMLS:C1842170"], "information_content": 100.0}
{"id": "HP:0008959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal upper limb muscle weakness", "equivalent_identifiers": ["HP:0008959", "UMLS:C3150620"], "information_content": 100.0}
{"id": "HP:0003691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Winged scapula", "equivalent_identifiers": ["HP:0003691", "UMLS:C0240953", "UMLS:C4072849", "MEDDRA:10067628", "MEDDRA:10067637", "SNOMEDCT:17211005"], "information_content": 100.0}
{"id": "HP:0012548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatty replacement of skeletal muscle", "equivalent_identifiers": ["HP:0012548", "UMLS:C4021082"], "information_content": 100.0}
{"id": "HP:0100303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber cytoplasmatic inclusion bodies", "equivalent_identifiers": ["HP:0100303", "UMLS:C4022157"], "information_content": 85.5}
{"id": "HP:0009053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal lower limb muscle weakness", "equivalent_identifiers": ["HP:0009053", "UMLS:C1836450"], "information_content": 92.8}
{"id": "MONDO:0005129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract", "equivalent_identifiers": ["MONDO:0005129", "DOID:83", "OMIM.PS:116200", "UMLS:C0029531", "UMLS:C0086543", "UMLS:C1510497", "MESH:D002386", "MEDDRA:10007739", "MEDDRA:10007757", "MEDDRA:10007768", "MEDDRA:10007771", "MEDDRA:10024208", "MEDDRA:10024214", "MEDDRA:10024215", "MEDDRA:10030347", "MEDDRA:10045649", "NCIT:C26713", "SNOMEDCT:128306009", "SNOMEDCT:193570009", "SNOMEDCT:247053007", "medgen:39462", "icd11.foundation:109841337", "ICD10:H26", "ICD9:366.8", "HP:0000518"], "information_content": 70.5}
{"id": "HP:0003805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rimmed vacuoles", "equivalent_identifiers": ["HP:0003805", "UMLS:C1853932"], "information_content": 100.0}
{"id": "MONDO:0004994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy", "equivalent_identifiers": ["MONDO:0004994", "DOID:0050700", "orphanet:167848", "EFO:0000318", "UMLS:C0036529", "UMLS:C0878544", "MESH:D009202", "MEDDRA:10007635", "MEDDRA:10007636", "MEDDRA:10007640", "MEDDRA:10007642", "MEDDRA:10039826", "MEDDRA:10061033", "MEDDRA:10072122", "NCIT:C34830", "SNOMEDCT:85898001", "medgen:209232", "icd11.foundation:282225286", "ICD10:I42", "ICD9:425", "ICD9:425.9", "HP:0001638"], "information_content": 62.5}
{"id": "HP:0002747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory insufficiency due to muscle weakness", "equivalent_identifiers": ["HP:0002747", "UMLS:C3806467"], "information_content": 95.4}
{"id": "HP:0003557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased variability in muscle fiber diameter", "equivalent_identifiers": ["HP:0003557", "UMLS:C1843700"], "information_content": 100.0}
{"id": "MONDO:0007389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis 5", "equivalent_identifiers": ["MONDO:0007389", "DOID:0112363", "OMIM:122600", "UMLS:C4083048", "medgen:901825"], "information_content": 100.0}
{"id": "MONDO:0009876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dwarfism", "equivalent_identifiers": ["MONDO:0009876", "DOID:0060873", "OMIM:262400", "orphanet:231662", "UMLS:C0013336", "UMLS:C0342573", "MESH:C537404", "MESH:D004392", "MEDDRA:10013881", "MEDDRA:10013883", "MEDDRA:10013884", "NCIT:C34554", "SNOMEDCT:237836003", "SNOMEDCT:237837007", "SNOMEDCT:422065006", "SNOMEDCT:71003000", "medgen:90986", "HP:0003510"], "information_content": 83.6}
{"id": "HP:0003521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disproportionate short-trunk short stature", "equivalent_identifiers": ["HP:0003521", "UMLS:C1846435"], "information_content": 88.2}
{"id": "HP:0000470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short neck", "equivalent_identifiers": ["HP:0000470", "UMLS:C0521525", "MEDDRA:10073036", "SNOMEDCT:95427009"], "information_content": 95.4}
{"id": "HP:0000913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior rib fusion", "equivalent_identifiers": ["HP:0000913", "UMLS:C1842084"], "information_content": 100.0}
{"id": "HP:0002937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemivertebrae", "equivalent_identifiers": ["HP:0002937", "NCIT:C124541", "UMLS:C0265677", "MEDDRA:10019477", "SNOMEDCT:68359008"], "information_content": 90.9}
{"id": "HP:0002948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fused vertebrae", "equivalent_identifiers": ["HP:0002948", "UMLS:C0265678", "UMLS:C1835763", "UMLS:C1849073", "UMLS:C3278509", "MEDDRA:10010629", "MEDDRA:10050507", "SNOMEDCT:38827001"], "information_content": 80.6}
{"id": "HP:0003419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low back pain", "equivalent_identifiers": ["HP:0003419", "NCIT:C34788", "UMLS:C0024031", "MEDDRA:10024890", "MEDDRA:10024891", "MEDDRA:10024988", "MEDDRA:10024998", "MEDDRA:10076433", "SNOMEDCT:279039007", "MESH:D017116"], "information_content": 95.4}
{"id": "HP:0000921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Missing ribs", "equivalent_identifiers": ["HP:0000921", "UMLS:C0426816", "SNOMEDCT:249695006"], "information_content": 89.4}
{"id": "HP:0005815", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accessory rib", "equivalent_identifiers": ["HP:0005815", "NCIT:C158328", "UMLS:C0345397", "MEDDRA:10084170", "SNOMEDCT:205460009"], "information_content": 88.2}
{"id": "HP:0003316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Butterfly vertebrae", "equivalent_identifiers": ["HP:0003316", "UMLS:C1844752", "UMLS:C5438458", "MEDDRA:10089512", "SNOMEDCT:897560004"], "information_content": 100.0}
{"id": "MONDO:0020667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "equivalent_identifiers": ["MONDO:0020667", "DOID:0081290", "OMIM:207410", "orphanet:596008", "UMLS:C2936791", "medgen:422448"], "information_content": 100.0}
{"id": "HP:0002980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoral bowing", "equivalent_identifiers": ["HP:0002980", "UMLS:C1859461"], "information_content": 89.4}
{"id": "MONDO:0010929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis 4", "equivalent_identifiers": ["MONDO:0010929", "DOID:0061012", "OMIM:600775", "UMLS:C1833340", "UMLS:C3806917", "SNOMEDCT:109417006", "medgen:322167", "HP:0004443"], "information_content": 88.2}
{"id": "HP:0003275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow pelvis bone", "equivalent_identifiers": ["HP:0003275", "UMLS:C1848103"], "information_content": 100.0}
{"id": "HP:0002781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper airway obstruction", "equivalent_identifiers": ["HP:0002781", "UMLS:C0740852", "MEDDRA:10067775"], "information_content": 92.8}
{"id": "HP:0003031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar bowing", "equivalent_identifiers": ["HP:0003031", "UMLS:C1865847"], "information_content": 95.4}
{"id": "HP:0004440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coronal craniosynostosis", "equivalent_identifiers": ["HP:0004440", "UMLS:C1856266"], "information_content": 88.2}
{"id": "HP:0012210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal morphology", "equivalent_identifiers": ["HP:0012210", "UMLS:C4551596"], "information_content": 55.7}
{"id": "HP:0000059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic labia majora", "equivalent_identifiers": ["HP:0000059", "UMLS:C0566899", "SNOMEDCT:289469003"], "information_content": 100.0}
{"id": "HP:0000377", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simple ear", "equivalent_identifiers": ["HP:0000377", "UMLS:C0431483", "UMLS:C0857379", "MEDDRA:10025534", "SNOMEDCT:253255002"], "information_content": 66.8}
{"id": "HP:0000452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Choanal stenosis", "equivalent_identifiers": ["HP:0000452", "UMLS:C0584837", "MEDDRA:10074053", "SNOMEDCT:306963008"], "information_content": 95.4}
{"id": "MONDO:0007737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "humeroradial synostosis", "equivalent_identifiers": ["MONDO:0007737", "DOID:0060467", "OMIM:143050", "orphanet:3265", "UMLS:C1863360", "UMLS:C2930865", "UMLS:C5975702", "MESH:C535284", "SNOMEDCT:205329008", "medgen:418931", "icd11.foundation:518723993", "HP:0003041"], "information_content": 89.4}
{"id": "MONDO:0007250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Streblodactyly", "equivalent_identifiers": ["MONDO:0007250", "OMIM:114200", "orphanet:295016", "UMLS:C0685409", "UMLS:C1306668", "UMLS:C2751430", "UMLS:C2931353", "MESH:C536852", "MESH:C567780", "MEDDRA:10049028", "SNOMEDCT:29271008", "medgen:416550", "icd11.foundation:1449348512", "HP:0012385"], "information_content": 80.6}
{"id": "MONDO:0008652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertical Talus", "equivalent_identifiers": ["MONDO:0008652", "DOID:0111568", "OMIM:192950", "orphanet:178382", "UMLS:C0240912", "MESH:C536345", "MEDDRA:10066242", "SNOMEDCT:205082007", "SNOMEDCT:205359003", "medgen:66821", "icd11.foundation:1525079646", "HP:0001838"], "information_content": 92.8}
{"id": "HP:0000148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal atresia", "equivalent_identifiers": ["HP:0000148"], "information_content": 92.8}
{"id": "MONDO:0012348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 8", "equivalent_identifiers": ["MONDO:0012348", "DOID:0111105", "OMIM:609812", "UMLS:C1853297", "MESH:C565225", "SNOMEDCT:609575003", "medgen:342845"], "information_content": 100.0}
{"id": "MONDO:0001684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exocrine pancreatic insufficiency", "equivalent_identifiers": ["MONDO:0001684", "DOID:13316", "UMLS:C0030293", "UMLS:C0267963", "MESH:D010188", "MEDDRA:10022465", "MEDDRA:10033628", "MEDDRA:10073392", "MEDDRA:10079281", "NCIT:C84316", "SNOMEDCT:37992001", "SNOMEDCT:47367009", "medgen:75647", "ICD10:K86.81", "HP:0001738"], "information_content": 95.4}
{"id": "MONDO:0018911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young", "equivalent_identifiers": ["MONDO:0018911", "DOID:0050524", "OMIM.PS:125850", "orphanet:552", "UMLS:C0342276", "MESH:C562772", "MEDDRA:10026948", "NCIT:C114769", "SNOMEDCT:609561005", "medgen:87433", "ICD10:E11.8", "KEGG.DISEASE:04950", "HP:0004904"], "information_content": 82.1}
{"id": "MONDO:0002909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperglycemia", "equivalent_identifiers": ["MONDO:0002909", "DOID:4195", "UMLS:C0020456", "MESH:D006943", "MEDDRA:10020635", "MEDDRA:10020637", "MEDDRA:10020639", "NCIT:C26797", "SNOMEDCT:237598005", "SNOMEDCT:80394007", "medgen:5689", "ICD10:R73.9", "HP:0003074"], "information_content": 88.2}
{"id": "HP:0040217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated hemoglobin A1c", "equivalent_identifiers": ["HP:0040217", "NCIT:C122507", "UMLS:C4073162", "MEDDRA:10018470", "MEDDRA:10018483", "MEDDRA:10018484", "MEDDRA:10051578", "MEDDRA:10052424", "MEDDRA:10055589", "MEDDRA:10055590", "MEDDRA:10056185", "MEDDRA:10056186"], "information_content": 100.0}
{"id": "HP:0009743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distichiasis", "equivalent_identifiers": ["HP:0009743", "UMLS:C0423848", "SNOMEDCT:95339000"], "information_content": 84.8}
{"id": "MONDO:0012613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 5", "equivalent_identifiers": ["MONDO:0012613", "DOID:0081181", "OMIM:611091", "UMLS:C1970199", "MESH:C567018", "medgen:370849"], "information_content": 100.0}
{"id": "MONDO:0007402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "creatine phosphokinase, elevated serum", "equivalent_identifiers": ["MONDO:0007402", "OMIM:123320", "UMLS:C0151576", "UMLS:C0241005", "UMLS:C0853034", "MEDDRA:10005470", "MEDDRA:10009219", "MEDDRA:10011267", "MEDDRA:10011268", "MEDDRA:10011335", "MEDDRA:10011336", "MEDDRA:10011349", "MEDDRA:10034937", "MEDDRA:10035269", "MEDDRA:10040224", "MEDDRA:10056732", "NCIT:C78247", "SNOMEDCT:432352001", "medgen:69128", "HP:0003236"], "information_content": 88.2}
{"id": "HP:0002064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spastic gait", "equivalent_identifiers": ["HP:0002064", "NCIT:C180558", "UMLS:C0231687", "UMLS:C0234996", "MEDDRA:10017583", "MEDDRA:10017585", "MEDDRA:10033840", "MEDDRA:10041412", "SNOMEDCT:9447003"], "information_content": 90.9}
{"id": "MONDO:0002406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatitis", "equivalent_identifiers": ["MONDO:0002406", "DOID:2723", "UMLS:C0013595", "MESH:D003872", "MESH:D004485", "MEDDRA:10012454", "MEDDRA:10014184", "MEDDRA:10014200", "MEDDRA:10014206", "MEDDRA:10014209", "MEDDRA:10087879", "MEDDRA:10087884", "NCIT:C2983", "SNOMEDCT:281104002", "SNOMEDCT:43116000", "medgen:849741", "ICD10:L30.9", "HP:0000964"], "information_content": 63.9}
{"id": "HP:0000049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shawl scrotum", "equivalent_identifiers": ["HP:0000049", "UMLS:C1858539", "MEDDRA:10080319"], "information_content": 100.0}
{"id": "HP:0001276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertonia", "equivalent_identifiers": ["HP:0001276", "NCIT:C87085", "UMLS:C0026826", "UMLS:C4732733", "MEDDRA:10020852", "MEDDRA:10020862", "MEDDRA:10021670", "MEDDRA:10028367", "MEDDRA:10028368", "MEDDRA:10028369", "MEDDRA:10043933", "MEDDRA:10081182", "SNOMEDCT:41581000", "SNOMEDCT:56731001", "MESH:D009122"], "information_content": 65.4}
{"id": "MONDO:0003037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis", "equivalent_identifiers": ["MONDO:0003037", "DOID:4535", "OMIM.PS:605389", "UMLS:C0020678", "UMLS:C0232411", "UMLS:C1837770", "UMLS:C1860844", "UMLS:C4721530", "UMLS:C5551005", "MESH:D007039", "MEDDRA:10021126", "MEDDRA:10053822", "NCIT:C34720", "SNOMEDCT:1162675003", "SNOMEDCT:134006", "SNOMEDCT:53602002", "SNOMEDCT:56558005", "medgen:6993", "HP:0008070"], "information_content": 79.9}
{"id": "HP:0025435", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating lactate dehydrogenase concentration", "equivalent_identifiers": ["HP:0025435", "UMLS:C4477095"], "information_content": 100.0}
{"id": "HP:0000215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick upper lip vermilion", "equivalent_identifiers": ["HP:0000215", "UMLS:C1846423"], "information_content": 100.0}
{"id": "HP:0000275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow face", "equivalent_identifiers": ["HP:0000275", "UMLS:C1837463", "UMLS:C1849121"], "information_content": 87.2}
{"id": "HP:0002136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad-based gait", "equivalent_identifiers": ["HP:0002136", "UMLS:C0856863", "MEDDRA:10047982"], "information_content": 100.0}
{"id": "MONDO:0008100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nipples inverted", "equivalent_identifiers": ["MONDO:0008100", "OMIM:163600", "UMLS:C0269269", "SNOMEDCT:82231009", "medgen:82844", "HP:0003186"], "information_content": 100.0}
{"id": "HP:0000666", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal nystagmus", "equivalent_identifiers": ["HP:0000666", "UMLS:C0271385", "SNOMEDCT:81756001"], "information_content": 87.2}
{"id": "MONDO:0010317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked, with or without seizures, ARX-related", "equivalent_identifiers": ["MONDO:0010317", "DOID:0112021", "OMIM:300419", "UMLS:C0796244", "MESH:C563150", "medgen:208681"], "information_content": 100.0}
{"id": "HP:0008715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Testicular dysgenesis", "equivalent_identifiers": ["HP:0008715", "UMLS:C0302885", "MEDDRA:10059271", "SNOMEDCT:253847002"], "information_content": 100.0}
{"id": "HP:0000020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary incontinence", "equivalent_identifiers": ["HP:0000020", "NCIT:C78497", "UMLS:C0042024", "MEDDRA:10005046", "MEDDRA:10021642", "MEDDRA:10021643", "MEDDRA:10027563", "MEDDRA:10046218", "MEDDRA:10046543", "MEDDRA:10046602", "MEDDRA:10046645", "SNOMEDCT:165232002", "MESH:D014549"], "information_content": 95.4}
{"id": "HP:0002307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Drooling", "equivalent_identifiers": ["HP:0002307", "NCIT:C118301", "NCIT:C121582", "UMLS:C0013132", "UMLS:C0037036", "MEDDRA:10013642", "MEDDRA:10020746", "MEDDRA:10021677", "MEDDRA:10037277", "MEDDRA:10039381", "MEDDRA:10039382", "MEDDRA:10039383", "MEDDRA:10039424", "MEDDRA:10059812", "MEDDRA:10059826", "SNOMEDCT:53827007", "SNOMEDCT:62718007", "MESH:D012798"], "information_content": 100.0}
{"id": "MONDO:0013366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis 4, autosomal recessive", "equivalent_identifiers": ["MONDO:0013366", "DOID:0112364", "OMIM:613686", "UMLS:C3150942", "medgen:462292"], "information_content": 100.0}
{"id": "MONDO:0008816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chiari malformation type II", "equivalent_identifiers": ["MONDO:0008816", "OMIM:207950", "UMLS:C0555206", "MEDDRA:10056945", "SNOMEDCT:373587001", "medgen:108222", "HP:0025660"], "information_content": 100.0}
{"id": "MONDO:0010029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "situs inversus", "equivalent_identifiers": ["MONDO:0010029", "DOID:0080324", "DOID:13515", "DOID:758", "OMIM:191100", "orphanet:101063", "UMLS:C0037221", "UMLS:C0041341", "UMLS:C1854465", "UMLS:C4551493", "MESH:C565346", "MESH:D012857", "MESH:D014402", "MEDDRA:10015057", "MEDDRA:10015058", "MEDDRA:10040761", "MEDDRA:10045138", "MEDDRA:10058894", "MEDDRA:10080584", "NCIT:C3424", "NCIT:C75122", "NCIT:C87121", "SNOMEDCT:24614000", "SNOMEDCT:27317008", "SNOMEDCT:43876007", "SNOMEDCT:7199000", "medgen:1642262", "icd11.foundation:797648408", "ICD10:Q85.1", "ICD9:759.3", "ICD9:759.5", "HP:0001696"], "information_content": 78.5}
{"id": "HP:0003310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal odontoid process morphology", "equivalent_identifiers": ["HP:0003310", "UMLS:C1864794"], "information_content": 87.2}
{"id": "MONDO:0015661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dextrocardia", "equivalent_identifiers": ["MONDO:0015661", "DOID:9565", "orphanet:1666", "UMLS:C0011813", "MESH:D003914", "MEDDRA:10012592", "NCIT:C84669", "SNOMEDCT:27637000", "medgen:4255", "icd11.foundation:1472687600", "ICD10:Q24.0", "HP:0001651"], "information_content": 92.8}
{"id": "MONDO:0000859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spina bifida occulta", "equivalent_identifiers": ["MONDO:0000859", "DOID:0080073", "orphanet:645202", "UMLS:C0080174", "MESH:D016136", "MEDDRA:10009650", "MEDDRA:10041525", "NCIT:C101044", "SNOMEDCT:76916001", "medgen:36380", "icd11.foundation:449489594", "HP:0003298"], "information_content": 79.6}
{"id": "HP:0010306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short thorax", "equivalent_identifiers": ["HP:0010306", "UMLS:C0426789", "SNOMEDCT:249670005"], "information_content": 100.0}
{"id": "HP:0032341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced forced vital capacity", "equivalent_identifiers": ["HP:0032341", "UMLS:C1846678", "MEDDRA:10074722"], "information_content": 92.8}
{"id": "HP:0032342", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced forced expiratory volume in one second", "equivalent_identifiers": ["HP:0032342", "UMLS:C5139283"], "information_content": 95.4}
{"id": "HP:0003305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Block vertebrae", "equivalent_identifiers": ["HP:0003305", "UMLS:C1844753", "MEDDRA:10084531"], "information_content": 100.0}
{"id": "HP:0003422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral segmentation defect", "equivalent_identifiers": ["HP:0003422", "UMLS:C0432163", "SNOMEDCT:205455005"], "information_content": 77.8}
{"id": "HP:0000011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurogenic bladder", "equivalent_identifiers": ["HP:0000011", "NCIT:C79696", "UMLS:C0005697", "UMLS:C5848144", "MEDDRA:10005059", "MEDDRA:10029279", "MEDDRA:10029327", "SNOMEDCT:397732007", "SNOMEDCT:398064005", "MESH:D001750"], "information_content": 90.9}
{"id": "HP:0000475", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad neck", "equivalent_identifiers": ["HP:0000475", "UMLS:C1853638"], "information_content": 100.0}
{"id": "HP:0030323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral vertebral artery hypoplasia", "equivalent_identifiers": ["HP:0030323", "UMLS:C3279090"], "information_content": 100.0}
{"id": "MONDO:0019773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelocele", "equivalent_identifiers": ["MONDO:0019773", "DOID:0060326", "orphanet:93969", "EFO:1001369", "UMLS:C0025312", "UMLS:C0086664", "UMLS:C0391858", "UMLS:C0751316", "UMLS:C1306753", "MESH:D008591", "MEDDRA:10027287", "MEDDRA:10067085", "NCIT:C98874", "SNOMEDCT:414667000", "SNOMEDCT:82058009", "medgen:7538", "icd11.foundation:1200528084", "ICD10:Q05", "HP:0002475"], "information_content": 85.5}
{"id": "HP:0030322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral artery hypoplasia", "equivalent_identifiers": ["HP:0030322", "UMLS:C1868737", "MEDDRA:10066907"], "information_content": 92.8}
{"id": "HP:0004397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic anus", "equivalent_identifiers": ["HP:0004397", "UMLS:C0266231", "SNOMEDCT:5153001"], "information_content": 92.8}
{"id": "HP:0034566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of posterior communicating artery", "equivalent_identifiers": ["HP:0034566", "UMLS:C5826484"], "information_content": 100.0}
{"id": "MONDO:0600029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restrictive pulmonary disease", "equivalent_identifiers": ["MONDO:0600029", "UMLS:C0085581", "UMLS:C3277226", "MEDDRA:10064760", "NCIT:C91762", "SNOMEDCT:36485005", "medgen:43209", "HP:0002091"], "information_content": 100.0}
{"id": "HP:0000902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rib fusion", "equivalent_identifiers": ["HP:0000902", "UMLS:C0265695", "UMLS:C1844749", "SNOMEDCT:66102006"], "information_content": 92.8}
{"id": "MONDO:0008213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Funnel Chest", "equivalent_identifiers": ["MONDO:0008213", "OMIM:169300", "UMLS:C0016842", "UMLS:C2051831", "MESH:D005660", "MEDDRA:10009809", "MEDDRA:10017550", "MEDDRA:10017551", "MEDDRA:10020351", "MEDDRA:10034204", "NCIT:C168386", "SNOMEDCT:391982004", "SNOMEDCT:391987005", "medgen:781174", "icd11.foundation:9248522", "HP:0000767"], "information_content": 95.4}
{"id": "MONDO:0010558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ayazi syndrome", "equivalent_identifiers": ["MONDO:0010558", "OMIM:303110", "orphanet:1435", "UMLS:C1844836", "UMLS:C3551019", "MESH:C537793", "SNOMEDCT:717761005", "medgen:763933"], "information_content": 100.0}
{"id": "HP:0000408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive sensorineural hearing impairment", "equivalent_identifiers": ["HP:0000408", "UMLS:C1843156", "UMLS:C5399972"], "information_content": 100.0}
{"id": "HP:0011373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incomplete partition of the cochlea", "equivalent_identifiers": ["HP:0011373", "UMLS:C4023392"], "information_content": 90.9}
{"id": "HP:0200065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal degeneration", "equivalent_identifiers": ["HP:0200065", "UMLS:C0521683", "MEDDRA:10081167", "SNOMEDCT:247177004"], "information_content": 88.2}
{"id": "MONDO:0010557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroideremia", "equivalent_identifiers": ["MONDO:0010557", "DOID:9821", "OMIM:303100", "orphanet:180", "UMLS:C0008525", "MESH:D015794", "MEDDRA:10008791", "MEDDRA:10060361", "NCIT:C34469", "SNOMEDCT:75241009", "medgen:944", "icd11.foundation:217923263", "ICD10:H31.21", "ICD9:363.55", "HP:0001139"], "information_content": 92.8}
{"id": "HP:0000533", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal atrophy", "equivalent_identifiers": ["HP:0000533", "UMLS:C4048273", "MEDDRA:10008762", "SNOMEDCT:95686007"], "information_content": 90.9}
{"id": "MONDO:0009775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oguchi disease-1", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009775", "DOID:0110712", "OMIM:258100", "UMLS:C4551824", "medgen:1645330"], "information_content": 100.0}
{"id": "MONDO:0016293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness", "equivalent_identifiers": ["MONDO:0016293", "DOID:0050534", "DOID:8498", "OMIM.PS:310500", "orphanet:215", "UMLS:C0339535", "UMLS:C3551052", "UMLS:C5848243", "MESH:C536122", "MEDDRA:10010559", "SNOMEDCT:193687000", "SNOMEDCT:232061009", "medgen:83289", "icd11.foundation:122338861", "icd11.foundation:587494652", "ICD10:H53.63", "ICD9:368.61", "HP:0007642"], "information_content": 80.6}
{"id": "HP:0030824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mizuo phenomenon", "equivalent_identifiers": ["HP:0030824", "UMLS:C4280748"], "information_content": 90.9}
{"id": "MONDO:0013925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic acidemia with homocystinuria, type cblJ", "equivalent_identifiers": ["MONDO:0013925", "OMIM:614857", "orphanet:369955", "UMLS:C3553915", "NCIT:C183526", "medgen:766829"], "information_content": 100.0}
{"id": "HP:0001254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lethargy", "equivalent_identifiers": ["HP:0001254", "NCIT:C78416", "UMLS:C0023380", "UMLS:C0235193", "UMLS:C0541911", "UMLS:C1337102", "MEDDRA:10024262", "MEDDRA:10024264", "MEDDRA:10044064", "SNOMEDCT:214264003", "MESH:D053609", "MESH:D064348"], "information_content": 89.4}
{"id": "HP:0002160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperhomocystinemia", "equivalent_identifiers": ["HP:0002160", "UMLS:C3806347"], "information_content": 95.4}
{"id": "HP:0033443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating propionylcarnitine concentration", "equivalent_identifiers": ["HP:0033443", "UMLS:C5539596"], "information_content": 100.0}
{"id": "MONDO:0002012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic acidemia", "equivalent_identifiers": ["MONDO:0002012", "DOID:14749", "OMIM.PS:251000", "UMLS:C0268583", "MESH:C537358", "MEDDRA:10088602", "MEDDRA:10088603", "NCIT:C98986", "SNOMEDCT:42393006", "medgen:120654", "HP:0002912"], "information_content": 80.6}
{"id": "HP:0025116", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal distress", "equivalent_identifiers": ["HP:0025116", "NCIT:C50563", "UMLS:C0015930", "MEDDRA:10016486", "MEDDRA:10016492", "MEDDRA:10016854", "MEDDRA:10016855", "MEDDRA:10042806", "MEDDRA:10055709", "SNOMEDCT:130955003", "MESH:D005316"], "information_content": 100.0}
{"id": "HP:0006610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide intermamillary distance", "equivalent_identifiers": ["HP:0006610", "UMLS:C1827524", "SNOMEDCT:423230008"], "information_content": 100.0}
{"id": "HP:0002533", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal posturing", "equivalent_identifiers": ["HP:0002533", "UMLS:C0231471", "MEDDRA:10036436", "SNOMEDCT:43029002"], "information_content": 100.0}
{"id": "HP:0003524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased methionine synthase activity", "equivalent_identifiers": ["HP:0003524", "UMLS:C1848580"], "information_content": 100.0}
{"id": "HP:0003145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating adenosylcobalamin concentration", "equivalent_identifiers": ["HP:0003145", "UMLS:C1848556"], "information_content": 100.0}
{"id": "MONDO:0004737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homocystinuria", "equivalent_identifiers": ["MONDO:0004737", "DOID:9263", "UMLS:C0019880", "MESH:D006712", "MEDDRA:10020365", "NCIT:C84765", "SNOMEDCT:11282001", "medgen:42485", "ICD10:E72.11", "HP:0002156"], "information_content": 81.7}
{"id": "HP:0003223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating methylcobalamin concentration", "equivalent_identifiers": ["HP:0003223", "UMLS:C4021736"], "information_content": 100.0}
{"id": "MONDO:0007345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aorta coarctation", "equivalent_identifiers": ["MONDO:0007345", "DOID:0051054", "OMIM:120000", "orphanet:1457", "EFO:1001267", "UMLS:C0003492", "MESH:D001017", "MEDDRA:10002894", "MEDDRA:10009805", "MEDDRA:10009807", "NCIT:C84567", "SNOMEDCT:7305005", "medgen:1617", "icd11.foundation:1524185114", "HP:0001680"], "information_content": 86.3}
{"id": "MONDO:0005149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension", "equivalent_identifiers": ["MONDO:0005149", "DOID:6432", "UMLS:C0020542", "UMLS:C2973725", "MESH:D006976", "MEDDRA:10020787", "MEDDRA:10037400", "MEDDRA:10037401", "MEDDRA:10037403", "MEDDRA:10064911", "NCIT:C157552", "NCIT:C3120", "SNOMEDCT:11399002", "SNOMEDCT:70995007", "medgen:9376", "icd11.foundation:1496633964", "ICD10:I27.20", "HP:0002092"], "information_content": 80.9}
{"id": "HP:0012120", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Methylmalonic aciduria", "equivalent_identifiers": ["HP:0012120", "UMLS:C1855119", "MEDDRA:10059521"], "information_content": 95.4}
{"id": "HP:0000888", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal ribs", "equivalent_identifiers": ["HP:0000888", "UMLS:C3806510"], "information_content": 100.0}
{"id": "MONDO:0002049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia", "equivalent_identifiers": ["MONDO:0002049", "DOID:1588", "UMLS:C0040034", "UMLS:C0392386", "UMLS:C5201036", "MESH:D013921", "MEDDRA:10024922", "MEDDRA:10035528", "MEDDRA:10035529", "MEDDRA:10035545", "MEDDRA:10038213", "MEDDRA:10043546", "MEDDRA:10043554", "MEDDRA:10043555", "MEDDRA:10043560", "MEDDRA:10043569", "NCIT:C162108", "NCIT:C203448", "NCIT:C3408", "SNOMEDCT:302215000", "SNOMEDCT:415116008", "medgen:52737", "icd11.foundation:683583694", "ICD10:D69.6", "ICD9:287.5", "HP:0001873"], "information_content": 66.0}
{"id": "HP:0002789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tachypnea", "equivalent_identifiers": ["HP:0002789", "EFO:0009840", "NCIT:C50767", "UMLS:C0231835", "MEDDRA:10006340", "MEDDRA:10038656", "MEDDRA:10038711", "MEDDRA:10038712", "MEDDRA:10043088", "MEDDRA:10043089", "SNOMEDCT:271823003", "MESH:D059246"], "information_content": 74.6}
{"id": "HP:0001895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Normochromic anemia", "equivalent_identifiers": ["HP:0001895", "UMLS:C0235983", "MEDDRA:10002069", "MEDDRA:10002301", "MEDDRA:10029782", "MEDDRA:10054484"], "information_content": 100.0}
{"id": "HP:0003658", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomethioninemia", "equivalent_identifiers": ["HP:0003658", "UMLS:C1848555"], "information_content": 95.4}
{"id": "MONDO:0001475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia", "equivalent_identifiers": ["MONDO:0001475", "DOID:1227", "UMLS:C0027947", "UMLS:C0853697", "MESH:D009503", "MEDDRA:10029354", "MEDDRA:10029355", "MEDDRA:10029366", "MEDDRA:10029369", "MEDDRA:10029382", "NCIT:C80520", "SNOMEDCT:165517008", "SNOMEDCT:303011007", "medgen:163121", "icd11.foundation:926492960", "ICD9:288.0", "HP:0001875"], "information_content": 76.9}
{"id": "MONDO:0100428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive bulbar palsy of childhood", "equivalent_identifiers": ["MONDO:0100428", "DOID:0080632", "OMIM:211500", "UMLS:C0015708", "UMLS:C0393540", "SNOMEDCT:230246005", "medgen:41975"], "information_content": 100.0}
{"id": "HP:0002015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysphagia", "equivalent_identifiers": ["HP:0002015", "NCIT:C2980", "UMLS:C0011168", "MEDDRA:10012173", "MEDDRA:10013213", "MEDDRA:10013950", "MEDDRA:10042645", "MEDDRA:10042646", "SNOMEDCT:288939007", "SNOMEDCT:40739000", "MESH:D003680"], "information_content": 71.6}
{"id": "HP:0005951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive inspiratory stridor", "equivalent_identifiers": ["HP:0005951", "UMLS:C4025096"], "information_content": 100.0}
{"id": "HP:0001283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bulbar palsy", "equivalent_identifiers": ["HP:0001283", "UMLS:C1301959", "UMLS:C4082299", "MEDDRA:10006542", "MEDDRA:10006543", "MEDDRA:10033804", "SNOMEDCT:398432008"], "information_content": 100.0}
{"id": "HP:0009113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diaphragmatic weakness", "equivalent_identifiers": ["HP:0009113", "UMLS:C0521532", "UMLS:C4020786", "MEDDRA:10012708", "SNOMEDCT:95438009"], "information_content": 95.4}
{"id": "HP:0007034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hyperreflexia", "equivalent_identifiers": ["HP:0007034", "UMLS:C4024949"], "information_content": 100.0}
{"id": "HP:0001349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial diplegia", "equivalent_identifiers": ["HP:0001349", "UMLS:C1836003"], "information_content": 95.4}
{"id": "MONDO:0014266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 15", "equivalent_identifiers": ["MONDO:0014266", "DOID:0110027", "OMIM:615591", "UMLS:C3810042", "medgen:816372"], "information_content": 100.0}
{"id": "MONDO:0003004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular degeneration", "equivalent_identifiers": ["MONDO:0003004", "DOID:4448", "EFO:0009606", "UMLS:C0024437", "MESH:D008268", "MEDDRA:10012148", "MEDDRA:10025400", "MEDDRA:10025409", "MEDDRA:10025414", "MEDDRA:10038876", "NCIT:C123330", "SNOMEDCT:422338006", "medgen:7434", "HP:0000608"], "information_content": 74.2}
{"id": "MONDO:0014491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 37", "equivalent_identifiers": ["MONDO:0014491", "DOID:0111939", "OMIM:616098", "UMLS:C4015195", "medgen:863632"], "information_content": 100.0}
{"id": "MONDO:0016463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic agammaglobulinemia", "equivalent_identifiers": ["MONDO:0016463", "orphanet:229720", "UMLS:C0086438", "UMLS:C4048270", "UMLS:C5680904", "MEDDRA:10020983", "MEDDRA:10020985", "MEDDRA:10020986", "MEDDRA:10054427", "MEDDRA:10060384", "NCIT:C26931", "SNOMEDCT:119250001", "medgen:1843258", "HP:0004313"], "information_content": 69.8}
{"id": "HP:0002133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Status epilepticus", "equivalent_identifiers": ["HP:0002133", "EFO:0008526", "NCIT:C85079", "UMLS:C0038220", "MEDDRA:10041962", "MEDDRA:10076333", "SNOMEDCT:230456007", "MESH:D013226"], "information_content": 77.3}
{"id": "HP:0410388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased proportion of central memory CD4-positive T cells", "equivalent_identifiers": ["HP:0410388", "UMLS:C5139549"], "information_content": 100.0}
{"id": "MONDO:0005292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colitis", "equivalent_identifiers": ["MONDO:0005292", "DOID:0060180", "EFO:0003872", "UMLS:C0009319", "MESH:D003092", "MEDDRA:10009887", "MEDDRA:10009889", "MEDDRA:10009898", "MEDDRA:10079511", "MEDDRA:10087699", "MEDDRA:10087700", "NCIT:C26723", "SNOMEDCT:64226004", "medgen:40385", "ICD10:K52.9", "HP:0002583"], "information_content": 79.0}
{"id": "MONDO:0019956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalitis", "equivalent_identifiers": ["MONDO:0019956", "DOID:9588", "orphanet:97275", "UMLS:C0014038", "MESH:D004660", "MEDDRA:10014581", "MEDDRA:10014601", "MEDDRA:10076379", "NCIT:C26760", "SNOMEDCT:45170000", "medgen:4027", "HP:0002383"], "information_content": 73.7}
{"id": "MONDO:0021094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency disease", "equivalent_identifiers": ["MONDO:0021094", "OMIM.PS:300755", "UMLS:C0021051", "MEDDRA:10021451", "MEDDRA:10021460", "MEDDRA:10045922", "MEDDRA:10061598", "NCIT:C3131", "NCIT:C39725", "SNOMEDCT:234532001", "medgen:7034", "HP:0002721"], "information_content": 62.2}
{"id": "MONDO:0014677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achromatopsia 7", "equivalent_identifiers": ["MONDO:0014677", "DOID:0110009", "OMIM:616517", "UMLS:C4225297", "medgen:904646"], "information_content": 100.0}
{"id": "MONDO:0044203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foveal hypoplasia", "equivalent_identifiers": ["MONDO:0044203", "OMIM.PS:136520", "UMLS:C2673946", "UMLS:C4072863", "medgen:393047", "HP:0007750"], "information_content": 87.2}
{"id": "HP:0000603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central scotoma", "equivalent_identifiers": ["HP:0000603", "UMLS:C0152191", "UMLS:C4280624", "MEDDRA:10007973", "MEDDRA:10039731", "MEDDRA:10039732", "MEDDRA:10081186", "SNOMEDCT:38950008"], "information_content": 100.0}
{"id": "MONDO:0018852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achromatopsia", "equivalent_identifiers": ["MONDO:0018852", "DOID:13911", "orphanet:49382", "UMLS:C0152200", "UMLS:C0302129", "MEDDRA:10000454", "MEDDRA:10005175", "NCIT:C84528", "SNOMEDCT:102450007", "medgen:57751", "ICD10:H53.51", "ICD9:368.54", "HP:0011516"], "information_content": 87.2}
{"id": "HP:0030825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent foveal reflex", "equivalent_identifiers": ["HP:0030825", "UMLS:C0423420", "SNOMEDCT:247144003"], "information_content": 100.0}
{"id": "MONDO:0007159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis-like hand anomaly-sensorineural deafness syndrome", "equivalent_identifiers": ["MONDO:0007159", "DOID:0111609", "OMIM:108200", "orphanet:1144", "UMLS:C1862471", "MESH:C535386", "SNOMEDCT:720515009", "medgen:350677"], "information_content": 100.0}
{"id": "HP:0005612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arthrogryposis-like hand anomaly", "equivalent_identifiers": ["HP:0005612", "UMLS:C4025173"], "information_content": 100.0}
{"id": "MONDO:0008779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis", "equivalent_identifiers": ["MONDO:0008779", "EFO:0003857", "UMLS:C0003886", "MESH:D001176", "NCIT:C84572", "SNOMEDCT:111246005", "SNOMEDCT:77016009", "medgen:2455", "HP:0002804"], "information_content": 87.2}
{"id": "MONDO:0033262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome 15", "equivalent_identifiers": ["MONDO:0033262", "DOID:0080271", "OMIM:617609", "UMLS:C4539896", "medgen:1620414"], "information_content": 100.0}
{"id": "MONDO:0004375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "end stage renal failure", "equivalent_identifiers": ["MONDO:0004375", "DOID:783", "EFO:0009909", "UMLS:C2316810", "MEDDRA:10076412", "NCIT:C9439", "SNOMEDCT:433146000", "SNOMEDCT:46177005", "medgen:384526", "ICD9:585.6", "HP:0003774"], "information_content": 92.8}
{"id": "HP:0003073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoalbuminemia", "equivalent_identifiers": ["HP:0003073", "NCIT:C37972", "UMLS:C0239981", "UMLS:C0860864", "MEDDRA:10001561", "MEDDRA:10001572", "MEDDRA:10020942", "MEDDRA:10020943", "SNOMEDCT:119247004", "SNOMEDCT:127355002", "MESH:D034141"], "information_content": 74.2}
{"id": "MONDO:0003634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteinuria", "equivalent_identifiers": ["MONDO:0003634", "DOID:576", "UMLS:C0033687", "MESH:D011507", "MEDDRA:10037020", "MEDDRA:10037032", "MEDDRA:10046554", "NCIT:C38012", "SNOMEDCT:29738008", "medgen:10976", "icd11.foundation:930895737", "ICD10:R80", "ICD9:791.0", "HP:0000093"], "information_content": 73.4}
{"id": "MONDO:0044765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "steroid-resistant nephrotic syndrome", "equivalent_identifiers": ["MONDO:0044765", "UMLS:C0403397", "UMLS:C3266102", "MEDDRA:10072914", "NCIT:C122798", "SNOMEDCT:236381000", "SNOMEDCT:449820008", "medgen:588369", "HP:0012588"], "information_content": 79.6}
{"id": "MONDO:0006835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoid nephrosis", "equivalent_identifiers": ["MONDO:0006835", "DOID:10966", "EFO:1001020", "UMLS:C0027721", "UMLS:C1704321", "MESH:D009402", "MEDDRA:10018374", "MEDDRA:10027643", "MEDDRA:10029168", "MEDDRA:10058325", "MEDDRA:10058326", "NCIT:C34844", "NCIT:C35540", "SNOMEDCT:44785005", "medgen:10307", "ICD10:N04", "HP:0012579"], "information_content": 100.0}
{"id": "MONDO:0100255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenosine kinase deficiency", "equivalent_identifiers": ["MONDO:0100255", "DOID:0111038", "OMIM:614300", "orphanet:289290", "UMLS:C1970196", "UMLS:C4706555", "MESH:C567015", "SNOMEDCT:763721006", "medgen:1632232"], "information_content": 100.0}
{"id": "MONDO:0004790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatty Liver", "equivalent_identifiers": ["MONDO:0004790", "DOID:9452", "UMLS:C0015695", "UMLS:C2711227", "MESH:D005234", "MEDDRA:10012147", "MEDDRA:10016261", "MEDDRA:10016263", "MEDDRA:10016264", "MEDDRA:10019708", "MEDDRA:10021947", "MEDDRA:10024680", "MEDDRA:10024681", "MEDDRA:10024682", "MEDDRA:10024685", "MEDDRA:10024686", "MEDDRA:10027442", "MEDDRA:10041970", "MEDDRA:10076331", "NCIT:C150596", "SNOMEDCT:197321007", "SNOMEDCT:442191002", "medgen:398225", "ICD10:K70.0", "ICD9:571.0", "HP:0001397"], "information_content": 83.6}
{"id": "MONDO:0000351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disorder of methionine catabolism", "equivalent_identifiers": ["MONDO:0000351", "DOID:0050544", "UMLS:C0268621", "UMLS:C4048705", "MESH:C564683", "MEDDRA:10051245", "MEDDRA:10054414", "SNOMEDCT:124283007", "SNOMEDCT:43123004", "SNOMEDCT:57835009", "medgen:887708", "HP:0003235"], "information_content": 90.9}
{"id": "HP:0002465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor speech", "equivalent_identifiers": ["HP:0002465", "UMLS:C1527347", "UMLS:C1848207", "UMLS:C4280574"], "information_content": 100.0}
{"id": "MONDO:0001751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis", "equivalent_identifiers": ["MONDO:0001751", "DOID:13580", "UMLS:C0008370", "MESH:D002779", "MEDDRA:10004620", "MEDDRA:10004673", "MEDDRA:10008635", "MEDDRA:10029961", "MEDDRA:10056375", "NCIT:C83006", "SNOMEDCT:197446008", "SNOMEDCT:30144000", "SNOMEDCT:33688009", "medgen:925", "ICD10:K83.1", "ICD9:576.2", "HP:0001396"], "information_content": 76.7}
{"id": "HP:0010841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multifocal epileptiform discharges", "equivalent_identifiers": ["HP:0010841", "UMLS:C4021219"], "information_content": 90.9}
{"id": "HP:0034731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating S-adenosyl-L-methionine concentration", "equivalent_identifiers": ["HP:0034731", "UMLS:C5826622"], "information_content": 100.0}
{"id": "HP:0034730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating S-adenosyl-L-homocysteine concentration", "equivalent_identifiers": ["HP:0034730", "UMLS:C5826621"], "information_content": 100.0}
{"id": "HP:0031964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating alanine aminotransferase concentration", "equivalent_identifiers": ["HP:0031964", "NCIT:C26948", "UMLS:C0151905", "MEDDRA:10001550", "MEDDRA:10001551", "MEDDRA:10001845", "MEDDRA:10018455", "MEDDRA:10018457", "MEDDRA:10018644", "MEDDRA:10040275", "MEDDRA:10040526", "MEDDRA:10044345", "MEDDRA:10056502"], "information_content": 100.0}
{"id": "HP:0001786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow foot", "equivalent_identifiers": ["HP:0001786", "UMLS:C0576227", "SNOMEDCT:299464006"], "information_content": 100.0}
{"id": "MONDO:0009938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonic stenosis", "equivalent_identifiers": ["MONDO:0009938", "OMIM:265500", "UMLS:C1956257", "MEDDRA:10037433", "MEDDRA:10037460", "NCIT:C50715", "SNOMEDCT:56786000", "medgen:408291", "HP:0001642"], "information_content": 84.2}
{"id": "MONDO:0004323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle Atrophy", "equivalent_identifiers": ["MONDO:0004323", "DOID:767", "UMLS:C0026846", "UMLS:C0234958", "UMLS:C0270948", "UMLS:C0541794", "UMLS:C1843479", "MESH:D009133", "MEDDRA:10002027", "MEDDRA:10002028", "MEDDRA:10003703", "MEDDRA:10003718", "MEDDRA:10012149", "MEDDRA:10028289", "MEDDRA:10028298", "MEDDRA:10028348", "NCIT:C94834", "SNOMEDCT:74035001", "SNOMEDCT:88092000", "medgen:892680", "HP:0003202"], "information_content": 75.7}
{"id": "MONDO:0020434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect, ostium secundum type", "equivalent_identifiers": ["MONDO:0020434", "orphanet:99103", "UMLS:C0344724", "MEDDRA:10031302", "MEDDRA:10031303", "SNOMEDCT:204315000", "medgen:91034", "icd11.foundation:1875768490", "HP:0001684"], "information_content": 100.0}
{"id": "HP:0012736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Profound global developmental delay", "equivalent_identifiers": ["HP:0012736", "UMLS:C1855773", "UMLS:C3553450"], "information_content": 100.0}
{"id": "HP:0006580", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Portal fibrosis", "equivalent_identifiers": ["HP:0006580", "UMLS:C2677002", "UMLS:C3805083", "MEDDRA:10074726"], "information_content": 100.0}
{"id": "MONDO:0024288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperbilirubinemia", "equivalent_identifiers": ["MONDO:0024288", "UMLS:C0020433", "UMLS:C0311468", "MESH:D006932", "MEDDRA:10004688", "MEDDRA:10004690", "MEDDRA:10004702", "MEDDRA:10004705", "MEDDRA:10005364", "MEDDRA:10020578", "MEDDRA:10020582", "MEDDRA:10037805", "NCIT:C27088", "SNOMEDCT:14783006", "SNOMEDCT:26165005", "medgen:86321", "HP:0002904"], "information_content": 80.6}
{"id": "HP:0500210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF methionine concentration", "equivalent_identifiers": ["HP:0500210", "UMLS:C5139595"], "information_content": 100.0}
{"id": "MONDO:0011255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome", "equivalent_identifiers": ["MONDO:0011255", "OMIM:602562", "orphanet:357158", "UMLS:C1865181", "MESH:C566520", "medgen:355927"], "information_content": 100.0}
{"id": "HP:0007957", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal opacity", "equivalent_identifiers": ["HP:0007957", "NCIT:C50509", "UMLS:C0010038", "UMLS:C0521719", "MEDDRA:10011018", "MEDDRA:10011035", "MEDDRA:10011038", "MEDDRA:10030346", "MEDDRA:10052116", "SNOMEDCT:413921009", "SNOMEDCT:64634000", "SNOMEDCT:95735008", "MESH:D003318"], "information_content": 79.0}
{"id": "HP:0012368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat face", "equivalent_identifiers": ["HP:0012368", "UMLS:C1853241"], "information_content": 95.4}
{"id": "HP:0000239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large fontanelles", "equivalent_identifiers": ["HP:0000239", "UMLS:C0456132", "UMLS:C4072820", "UMLS:C4072821", "UMLS:C4072822", "MEDDRA:10054068", "SNOMEDCT:276709006"], "information_content": 87.2}
{"id": "MONDO:0002043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectropion", "equivalent_identifiers": ["MONDO:0002043", "DOID:1570", "UMLS:C0013592", "MESH:D004483", "MEDDRA:10014179", "MEDDRA:10014180", "MEDDRA:10014183", "MEDDRA:10015892", "MEDDRA:10085757", "SNOMEDCT:127559009", "SNOMEDCT:62909004", "medgen:4448", "ICD10:H02.1", "ICD9:374.1", "HP:0000656"], "information_content": 83.6}
{"id": "HP:0000311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Round face", "equivalent_identifiers": ["HP:0000311", "UMLS:C0239479", "UMLS:C1856468"], "information_content": 95.4}
{"id": "MONDO:0006500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangioma", "equivalent_identifiers": ["MONDO:0006500", "DOID:255", "EFO:1000635", "UMLS:C0018916", "MESH:D006391", "MEDDRA:10018814", "MEDDRA:10018819", "MEDDRA:10019386", "MEDDRA:10019393", "MEDDRA:10019401", "MEDDRA:10055903", "NCIT:C3085", "SNOMEDCT:253053003", "SNOMEDCT:400210000", "medgen:5477", "ICD10:D18.0", "ICD9:228.00", "HP:0001028"], "information_content": 68.3}
{"id": "MONDO:0003085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratitis", "equivalent_identifiers": ["MONDO:0003085", "DOID:4677", "EFO:0009449", "UMLS:C0022568", "MESH:D007634", "MEDDRA:10011023", "MEDDRA:10021953", "MEDDRA:10023332", "MEDDRA:10023336", "MEDDRA:10023346", "MEDDRA:10045988", "NCIT:C26805", "SNOMEDCT:5888003", "medgen:44013", "ICD10:H16", "ICD9:370", "HP:0000491"], "information_content": 76.2}
{"id": "MONDO:0002457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher-Collins syndrome", "equivalent_identifiers": ["MONDO:0002457", "DOID:2908", "OMIM.PS:154500", "orphanet:861", "UMLS:C0242387", "MEDDRA:10044554", "MEDDRA:10051456", "MEDDRA:10051464", "NCIT:C75018", "SNOMEDCT:62767009", "SNOMEDCT:82203000", "medgen:66078", "icd11.foundation:969026676", "ICD10:Q75.4", "HP:0005321"], "information_content": 89.4}
{"id": "MONDO:0003799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjunctivitis", "equivalent_identifiers": ["MONDO:0003799", "DOID:6195", "EFO:0009450", "UMLS:C0009763", "UMLS:C1864156", "MESH:D003231", "MEDDRA:10010741", "MEDDRA:10010751", "MEDDRA:10010757", "NCIT:C34504", "SNOMEDCT:9826008", "medgen:1093", "icd11.foundation:831696556", "ICD10:H10", "ICD9:372.30", "HP:0000509"], "information_content": 76.2}
{"id": "MONDO:0007776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypersensitivity pneumonitis, familial", "equivalent_identifiers": ["MONDO:0007776", "OMIM:145300", "UMLS:C1840386", "MESH:C536846", "medgen:326724"], "information_content": 100.0}
{"id": "MONDO:0017853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypersensitivity pneumonitis", "equivalent_identifiers": ["MONDO:0017853", "DOID:841", "orphanet:31740", "EFO:1001321", "UMLS:C0002390", "MESH:D000542", "MEDDRA:10001890", "MEDDRA:10001891", "MEDDRA:10015887", "MEDDRA:10035743", "MEDDRA:10035754", "MEDDRA:10081988", "NCIT:C34369", "SNOMEDCT:37471005", "medgen:1446", "ICD10:J67.9", "ICD9:495", "HP:0006516"], "information_content": 82.1}
{"id": "MONDO:0007235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiooculofacial syndrome", "equivalent_identifiers": ["MONDO:0007235", "DOID:0050691", "OMIM:113620", "orphanet:1297", "UMLS:C0376524", "SNOMEDCT:449821007", "medgen:91261"], "information_content": 100.0}
{"id": "HP:0008606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supraauricular pit", "equivalent_identifiers": ["HP:0008606", "UMLS:C1862059"], "information_content": 100.0}
{"id": "HP:0000164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tooth problem", "equivalent_identifiers": ["HP:0000164", "NCIT:C118306", "UMLS:C0040427", "UMLS:C0262444", "UMLS:C0576962", "MEDDRA:10002636", "MEDDRA:10025531", "MEDDRA:10044015", "MEDDRA:10044046", "SNOMEDCT:1162865004", "SNOMEDCT:300237004", "SNOMEDCT:422775003", "MESH:D014071"], "information_content": 61.9}
{"id": "MONDO:0007145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital scar", "equivalent_identifiers": ["MONDO:0007145", "DOID:0080661", "OMIM:107600", "orphanet:1114", "UMLS:C0265989", "UMLS:C0282160", "UMLS:C2931779", "MEDDRA:10002963", "NCIT:C98822", "SNOMEDCT:254237003", "SNOMEDCT:35484002", "SNOMEDCT:74223008", "medgen:79390", "icd11.foundation:350175828", "HP:0001057"], "information_content": 87.2}
{"id": "MONDO:0001561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyloric stenosis", "equivalent_identifiers": ["MONDO:0001561", "DOID:12639", "DOID:3122", "EFO:0009626", "EFO:1000947", "UMLS:C0034194", "UMLS:C0162651", "UMLS:C1541124", "MESH:D011707", "MESH:D017219", "MEDDRA:10029968", "MEDDRA:10037621", "MEDDRA:10037624", "MEDDRA:10041994", "MEDDRA:10062499", "NCIT:C34966", "SNOMEDCT:244815007", "SNOMEDCT:367403001", "medgen:18780", "ICD10:K31.1", "HP:0002021"], "information_content": 84.8}
{"id": "HP:0000480", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal coloboma", "equivalent_identifiers": ["HP:0000480", "NCIT:C103956", "UMLS:C3540764", "MEDDRA:10052643", "SNOMEDCT:204173008"], "information_content": 92.8}
{"id": "MONDO:0006499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hamartoma", "equivalent_identifiers": ["MONDO:0006499", "EFO:1000634", "UMLS:C0018552", "MESH:D006222", "MEDDRA:10019105", "MEDDRA:10061193", "NCIT:C3075", "SNOMEDCT:400006008", "SNOMEDCT:51398009", "medgen:6713", "HP:0010566"], "information_content": 70.4}
{"id": "HP:0001804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic fingernail", "equivalent_identifiers": ["HP:0001804", "UMLS:C1856786"], "information_content": 82.1}
{"id": "MONDO:0003280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "swayback", "equivalent_identifiers": ["MONDO:0003280", "DOID:5112", "UMLS:C0024003", "UMLS:C0038981", "MESH:D008141", "MESH:D013540", "MEDDRA:10024842", "MEDDRA:10078028", "MEDDRA:10078166", "NCIT:C34787", "SNOMEDCT:1187290008", "SNOMEDCT:249710008", "SNOMEDCT:61960001", "HP:0003307"], "information_content": 89.4}
{"id": "HP:0009623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal placement of thumb", "equivalent_identifiers": ["HP:0009623", "UMLS:C1865572"], "information_content": 100.0}
{"id": "HP:0002216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature graying of hair", "equivalent_identifiers": ["HP:0002216", "UMLS:C0263498", "SNOMEDCT:387833009"], "information_content": 95.4}
{"id": "MONDO:0018772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome", "equivalent_identifiers": ["MONDO:0018772", "DOID:0050777", "OMIM.PS:213300", "orphanet:475", "UMLS:C0431399", "UMLS:C5437781", "MESH:C536293", "MEDDRA:10078574", "NCIT:C74996", "SNOMEDCT:253175003", "SNOMEDCT:716997004", "SNOMEDCT:890430009", "medgen:98464", "icd11.foundation:1414756318", "HP:0002335"], "information_content": 75.5}
{"id": "MONDO:0006610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin atrophy", "equivalent_identifiers": ["MONDO:0006610", "DOID:2733", "EFO:1000766", "UMLS:C0151514", "MEDDRA:10003719", "MEDDRA:10040799", "NCIT:C35163", "SNOMEDCT:399979006", "SNOMEDCT:400190005", "medgen:101793", "ICD10:L90", "HP:0004334"], "information_content": 87.2}
{"id": "HP:0010517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic thymus tissue", "equivalent_identifiers": ["HP:0010517", "UMLS:C4023795"], "information_content": 100.0}
{"id": "HP:0010751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dimple chin", "equivalent_identifiers": ["HP:0010751", "UMLS:C4317152"], "information_content": 100.0}
{"id": "HP:0011323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft of chin", "equivalent_identifiers": ["HP:0011323", "UMLS:C1849227"], "information_content": 95.4}
{"id": "HP:0000528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anophthalmia", "equivalent_identifiers": ["HP:0000528", "NCIT:C98814", "UMLS:C0003119", "MEDDRA:10002639", "MEDDRA:10002640", "MEDDRA:10009298", "SNOMEDCT:204099004", "SNOMEDCT:7183006", "MESH:D000853"], "information_content": 92.8}
{"id": "MONDO:0021129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia", "equivalent_identifiers": ["MONDO:0021129", "DOID:10629", "EFO:0005569", "UMLS:C0026010", "UMLS:C4280625", "UMLS:C4280808", "MESH:D008850", "MEDDRA:10010544", "MEDDRA:10027547", "MEDDRA:10027548", "MEDDRA:10027550", "MEDDRA:10040702", "NCIT:C98989", "SNOMEDCT:204108000", "SNOMEDCT:61142002", "medgen:10033", "ICD9:743.1", "HP:0000568"], "information_content": 72.1}
{"id": "HP:0009778", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short thumb", "equivalent_identifiers": ["HP:0009778", "NCIT:C98897", "UMLS:C0431890", "SNOMEDCT:253936008"], "information_content": 83.6}
{"id": "MONDO:0004747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft lip", "equivalent_identifiers": ["MONDO:0004747", "DOID:9296", "EFO:0003959", "UMLS:C0008924", "UMLS:C4321245", "MESH:D002971", "MEDDRA:10009259", "MEDDRA:10009268", "MEDDRA:10019159", "MEDDRA:10019161", "MEDDRA:10024547", "MEDDRA:10049861", "NCIT:C87175", "SNOMEDCT:80281008", "medgen:1370297", "ICD10:Q36", "ICD9:749.1", "ICD9:749.11", "HP:0000204"], "information_content": 80.9}
{"id": "HP:0004785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malrotation of colon", "equivalent_identifiers": ["HP:0004785", "UMLS:C0266196", "SNOMEDCT:6477005"], "information_content": 100.0}
{"id": "HP:0000420", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short nasal septum", "equivalent_identifiers": ["HP:0000420", "UMLS:C1844857"], "information_content": 95.4}
{"id": "MONDO:0002378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermoid cyst", "equivalent_identifiers": ["MONDO:0002378", "DOID:2658", "EFO:1000894", "UMLS:C0011649", "MESH:D003884", "MEDDRA:10012522", "MEDDRA:10012523", "MEDDRA:10087681", "NCIT:C9011", "SNOMEDCT:123151001", "SNOMEDCT:417609007", "SNOMEDCT:419952004", "SNOMEDCT:441459009", "SNOMEDCT:72277008", "medgen:41504", "icd11.foundation:1622534741", "ICD10:K09.8", "HP:0025247"], "information_content": 85.5}
{"id": "HP:0004464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postauricular pit", "equivalent_identifiers": ["HP:0004464", "UMLS:C0395905", "MEDDRA:10036329", "SNOMEDCT:43887004"], "information_content": 100.0}
{"id": "HP:0002162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low posterior hairline", "equivalent_identifiers": ["HP:0002162", "UMLS:C1855728"], "information_content": 100.0}
{"id": "HP:0005473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusion of middle ear ossicles", "equivalent_identifiers": ["HP:0005473", "UMLS:C1862068"], "information_content": 95.4}
{"id": "MONDO:0020356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris coloboma", "equivalent_identifiers": ["MONDO:0020356", "orphanet:98944", "UMLS:C0240063", "NCIT:C98879", "SNOMEDCT:9446007", "medgen:116097", "icd11.foundation:1552972259", "HP:0000612"], "information_content": 100.0}
{"id": "MONDO:0001833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lacrimal duct obstruction", "equivalent_identifiers": ["MONDO:0001833", "DOID:13929", "UMLS:C0022906", "UMLS:C1281931", "MESH:D007767", "MEDDRA:10023622", "MEDDRA:10023626", "NCIT:C34757", "SNOMEDCT:246865000", "SNOMEDCT:314022009", "SNOMEDCT:416920000", "medgen:226915", "HP:0000579"], "information_content": 90.9}
{"id": "MONDO:0008101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial supernumerary nipples", "equivalent_identifiers": ["MONDO:0008101", "OMIM:163700", "orphanet:2456", "UMLS:C0266011", "MESH:C562557", "MEDDRA:10029422", "MEDDRA:10042571", "SNOMEDCT:50956007", "medgen:120564", "HP:0002558"], "information_content": 95.4}
{"id": "HP:0008559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic superior helix", "equivalent_identifiers": ["HP:0008559", "UMLS:C1865305"], "information_content": 100.0}
{"id": "HP:0000396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overfolded helix", "equivalent_identifiers": ["HP:0000396", "UMLS:C1837731"], "information_content": 95.4}
{"id": "HP:0002211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White forelock", "equivalent_identifiers": ["HP:0002211", "UMLS:C0344312", "SNOMEDCT:247564004"], "information_content": 100.0}
{"id": "HP:0000196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower lip pit", "equivalent_identifiers": ["HP:0000196", "UMLS:C1861544"], "information_content": 100.0}
{"id": "HP:0000350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small forehead", "equivalent_identifiers": ["HP:0000350", "UMLS:C1845250", "UMLS:C4280633", "UMLS:C4280634"], "information_content": 90.9}
{"id": "HP:0002808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kyphosis", "equivalent_identifiers": ["HP:0002808", "NCIT:C34754", "UMLS:C0022821", "UMLS:C1845112", "MEDDRA:10023509", "MEDDRA:10085445", "MEDDRA:10090853", "SNOMEDCT:414564002", "MESH:D007738"], "information_content": 82.1}
{"id": "HP:0009794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Branchial anomaly", "equivalent_identifiers": ["HP:0009794", "UMLS:C1862066"], "information_content": 90.9}
{"id": "HP:0000987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical scarring of skin", "equivalent_identifiers": ["HP:0000987", "UMLS:C4021786"], "information_content": 87.2}
{"id": "HP:0000268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dolichocephaly", "equivalent_identifiers": ["HP:0000268", "UMLS:C0221358", "UMLS:C4280653", "UMLS:C4280654", "UMLS:C4280655", "UMLS:C4280656", "MEDDRA:10085104", "SNOMEDCT:72239002"], "information_content": 95.4}
{"id": "MONDO:0018470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal agenesis", "equivalent_identifiers": ["MONDO:0018470", "DOID:14766", "OMIM.PS:191830", "orphanet:411709", "UMLS:C0542519", "MEDDRA:10038354", "MEDDRA:10038356", "NCIT:C99041", "SNOMEDCT:204942005", "medgen:154237", "icd11.foundation:683319223", "HP:0000104"], "information_content": 86.3}
{"id": "MONDO:0007717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain", "equivalent_identifiers": ["MONDO:0007717", "OMIM:142309", "UMLS:C1840647", "medgen:333610"], "information_content": 100.0}
{"id": "HP:0004863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compensated hemolytic anemia", "equivalent_identifiers": ["HP:0004863", "UMLS:C4025283"], "information_content": 100.0}
{"id": "HP:0004825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased hemoglobin oxygen affinity", "equivalent_identifiers": ["HP:0004825", "UMLS:C4021647"], "information_content": 100.0}
{"id": "MONDO:0013217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 10", "equivalent_identifiers": ["MONDO:0013217", "DOID:0111888", "OMIM:613309", "UMLS:C2750080", "MESH:C567649", "NCIT:C176919", "medgen:412873"], "information_content": 100.0}
{"id": "HP:0033074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Steroid-responsive anemia", "equivalent_identifiers": ["HP:0033074", "UMLS:C5194784"], "information_content": 100.0}
{"id": "MONDO:0005711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital diaphragmatic hernia", "equivalent_identifiers": ["MONDO:0005711", "DOID:3827", "OMIM.PS:142340", "orphanet:2140", "EFO:0007216", "EFO:0008561", "UMLS:C0019284", "UMLS:C0235833", "UMLS:C0700510", "MESH:D006548", "MESH:D065630", "MEDDRA:10010439", "MEDDRA:10012713", "MEDDRA:10012714", "MEDDRA:10012715", "MEDDRA:10012717", "MEDDRA:10012720", "MEDDRA:10012723", "NCIT:C34687", "NCIT:C98893", "SNOMEDCT:17190001", "SNOMEDCT:196903009", "SNOMEDCT:39839004", "medgen:68625", "icd11.foundation:1414428936", "HP:0000776", "MP:0003924"], "information_content": 74.9}
{"id": "HP:0000075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal duplication", "equivalent_identifiers": ["HP:0000075", "UMLS:C0266298", "MEDDRA:10048781", "SNOMEDCT:30275001"], "information_content": 92.8}
{"id": "HP:0025194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Morgagni diaphragmatic hernia", "equivalent_identifiers": ["HP:0025194", "UMLS:C0265699", "SNOMEDCT:48763007"], "information_content": 100.0}
{"id": "HP:0001896", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticulocytopenia", "equivalent_identifiers": ["HP:0001896", "NCIT:C113710", "UMLS:C0858867", "MEDDRA:10038795", "SNOMEDCT:124961001"], "information_content": 95.4}
{"id": "MONDO:0002281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocytic anemia", "equivalent_identifiers": ["MONDO:0002281", "DOID:2361", "UMLS:C0002886", "MESH:D000748", "MEDDRA:10002064", "MEDDRA:10002297", "MEDDRA:10025380", "MEDDRA:10025381", "MEDDRA:10074043", "NCIT:C34381", "SNOMEDCT:83414005", "medgen:1920", "HP:0001972"], "information_content": 82.6}
{"id": "NCBIGene:1714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin"], "name": "Digeorge syndrome", "equivalent_identifiers": ["NCBIGene:1714", "OMIM:188400"]}
{"id": "MONDO:0019636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single kidney", "equivalent_identifiers": ["MONDO:0019636", "orphanet:93100", "UMLS:C0266294", "UMLS:C1849176", "MESH:D000075529", "MEDDRA:10051001", "MEDDRA:10053624", "NCIT:C101220", "SNOMEDCT:55726006", "medgen:75607", "icd11.foundation:760295498", "HP:0000122"], "information_content": 100.0}
{"id": "MONDO:0008249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pilonidal sinus", "equivalent_identifiers": ["MONDO:0008249", "OMIM:173000", "UMLS:C0031925", "MESH:D010864", "MEDDRA:10035043", "MEDDRA:10068314", "NCIT:C34931", "SNOMEDCT:16225231000119104", "SNOMEDCT:47639008", "medgen:19314", "HP:0010769"], "information_content": 100.0}
{"id": "MONDO:0006608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seborrheic dermatitis", "equivalent_identifiers": ["MONDO:0006608", "DOID:8741", "EFO:1000764", "UMLS:C0036508", "UMLS:C3806554", "MESH:D012628", "MEDDRA:10012488", "MEDDRA:10012489", "MEDDRA:10014204", "MEDDRA:10039788", "MEDDRA:10039789", "MEDDRA:10039793", "MEDDRA:10039795", "MEDDRA:10062813", "MEDDRA:10062814", "NCIT:C111888", "SNOMEDCT:50563003", "SNOMEDCT:86708008", "medgen:19912", "ICD10:L21", "ICD9:690.1", "HP:0001051"], "information_content": 90.9}
{"id": "MONDO:0009010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic arch interruption", "equivalent_identifiers": ["MONDO:0009010", "orphanet:2299", "UMLS:C0152419", "UMLS:C3164271", "MEDDRA:10022599", "NCIT:C98958", "SNOMEDCT:447817009", "medgen:57773", "icd11.foundation:1769930414", "HP:0011611"], "information_content": 90.9}
{"id": "MONDO:0010618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland", "equivalent_identifiers": ["MONDO:0010618", "DOID:0111388", "OMIM:307700", "orphanet:2239", "UMLS:C0342344", "UMLS:C1321907", "MESH:C562782", "MESH:C563238", "NCIT:C131079", "SNOMEDCT:237655001", "SNOMEDCT:73291005", "medgen:87437", "icd11.foundation:1282942432", "HP:0008211"], "information_content": 100.0}
{"id": "MONDO:0016225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific learning disability", "equivalent_identifiers": ["MONDO:0016225", "orphanet:211047", "UMLS:C4025790", "UMLS:C4042933", "MESH:D000067559", "medgen:871302", "HP:0001328"], "information_content": 87.2}
{"id": "MONDO:0004895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "accommodative esotropia", "equivalent_identifiers": ["MONDO:0004895", "DOID:9839", "UMLS:C0155336", "MEDDRA:10000393", "SNOMEDCT:194112008", "SNOMEDCT:419494007", "medgen:102331", "icd11.foundation:1512812109", "ICD10:H50.43", "ICD9:378.35", "HP:0020046"], "information_content": 90.9}
{"id": "MONDO:0005002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic obstructive pulmonary disease", "equivalent_identifiers": ["MONDO:0005002", "DOID:3083", "OMIM:606963", "EFO:0000341", "UMLS:C0024117", "UMLS:C1527303", "UMLS:C2751329", "MESH:D029424", "MEDDRA:10008828", "MEDDRA:10009025", "MEDDRA:10009026", "MEDDRA:10009032", "MEDDRA:10009033", "MEDDRA:10010952", "MEDDRA:10029972", "MEDDRA:10064611", "MEDDRA:10070975", "NCIT:C3199", "SNOMEDCT:13645005", "medgen:9818", "icd11.foundation:133207228", "ICD10:J44.9", "HP:0006510"], "information_content": 81.7}
{"id": "MONDO:0018072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent truncus arteriosus", "equivalent_identifiers": ["MONDO:0018072", "orphanet:3384", "UMLS:C0041206", "UMLS:C0041207", "UMLS:C4020867", "MESH:D014339", "MEDDRA:10044703", "MEDDRA:10059207", "NCIT:C98880", "SNOMEDCT:58140002", "SNOMEDCT:61959006", "SNOMEDCT:787779000", "medgen:52867", "icd11.foundation:1832500366", "ICD10:Q20.0", "HP:0001660"], "information_content": 86.3}
{"id": "HP:0000370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the middle ear", "equivalent_identifiers": ["HP:0000370", "UMLS:C1861141"], "information_content": 66.7}
{"id": "MONDO:0011438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acne", "equivalent_identifiers": ["MONDO:0011438", "DOID:6543", "EFO:0003894", "UMLS:C0001144", "UMLS:C0152249", "UMLS:C0702166", "UMLS:C4531022", "MESH:D000152", "MEDDRA:10000496", "MEDDRA:10000497", "MEDDRA:10000510", "MEDDRA:10000518", "MEDDRA:10000519", "NCIT:C27195", "SNOMEDCT:11381005", "SNOMEDCT:23894009", "SNOMEDCT:88616000", "medgen:152379", "icd11.foundation:1892393023", "ICD10:L70", "ICD10:L70.2", "ICD9:706.0", "HP:0001061"], "information_content": 90.9}
{"id": "HP:0100541", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoral hernia", "equivalent_identifiers": ["HP:0100541", "EFO:1001791", "NCIT:C34689", "NCIT:C35209", "UMLS:C0019288", "UMLS:C0156128", "MEDDRA:10016434", "MEDDRA:10016435", "MEDDRA:10016437", "MEDDRA:10016439", "MEDDRA:10016445", "MEDDRA:10016448", "MEDDRA:10077460", "MEDDRA:10077461", "SNOMEDCT:196835005", "SNOMEDCT:50063009", "MESH:D006550"], "information_content": 92.8}
{"id": "HP:0011840", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of T cell physiology", "equivalent_identifiers": ["HP:0011840", "UMLS:C4023166"], "information_content": 69.6}
{"id": "HP:0002627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right aortic arch with mirror image branching", "equivalent_identifiers": ["HP:0002627", "UMLS:C4025695"], "information_content": 100.0}
{"id": "MONDO:0019629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sclerocornea", "equivalent_identifiers": ["MONDO:0019629", "DOID:0060252", "orphanet:91490", "UMLS:C1853235", "MESH:C565209", "MEDDRA:10089596", "medgen:344000", "icd11.foundation:995798428", "HP:0000647"], "information_content": 92.8}
{"id": "HP:0002901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocalcemia", "equivalent_identifiers": ["HP:0002901", "NCIT:C37973", "UMLS:C0020598", "MEDDRA:10020947", "MEDDRA:10020949", "SNOMEDCT:5291005", "MESH:D006996"], "information_content": 82.6}
{"id": "HP:0000860", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parathyroid hypoplasia", "equivalent_identifiers": ["HP:0000860", "UMLS:C1389851"], "information_content": 95.4}
{"id": "HP:0100750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atelectasis", "equivalent_identifiers": ["HP:0100750", "NCIT:C2888", "UMLS:C0004144", "MEDDRA:10003598", "MEDDRA:10009913", "MEDDRA:10024737", "MEDDRA:10037360", "SNOMEDCT:46621007", "MESH:D001261"], "information_content": 92.8}
{"id": "HP:0000778", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small thymus", "equivalent_identifiers": ["HP:0000778", "UMLS:C0685891", "UMLS:C4228227", "MEDDRA:10052645", "SNOMEDCT:93297002"], "information_content": 95.4}
{"id": "HP:0000777", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thymus morphology", "equivalent_identifiers": ["HP:0000777", "UMLS:C0262650"], "information_content": 71.5}
{"id": "HP:0002999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patellar dislocation", "equivalent_identifiers": ["HP:0002999", "UMLS:C1135812", "MEDDRA:10013154", "MEDDRA:10013155", "MEDDRA:10034121", "MEDDRA:10034128", "SNOMEDCT:263029007", "MESH:D031222"], "information_content": 90.9}
{"id": "MONDO:0004985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bipolar disorder", "equivalent_identifiers": ["MONDO:0004985", "DOID:3312", "UMLS:C0005586", "UMLS:C0236780", "MESH:D001714", "MEDDRA:10004908", "MEDDRA:10004935", "MEDDRA:10004938", "MEDDRA:10026754", "MEDDRA:10026755", "MEDDRA:10026756", "MEDDRA:10026757", "MEDDRA:10026758", "MEDDRA:10037240", "MEDDRA:10037954", "MEDDRA:10057667", "NCIT:C34423", "SNOMEDCT:13746004", "SNOMEDCT:16506000", "medgen:2649", "ICD10:F31", "ICD9:296.40", "ICD9:296.60", "ICD9:296.80", "HP:0007302"], "information_content": 82.1}
{"id": "MONDO:0005936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recurrent pneumonia", "equivalent_identifiers": ["MONDO:0005936", "EFO:0007461", "UMLS:C0694550", "UMLS:C0748140", "UMLS:C0876973", "UMLS:C1859117", "MEDDRA:10048847", "MEDDRA:10061229", "MEDDRA:10066727", "NCIT:C26873", "SNOMEDCT:128601007", "SNOMEDCT:699014000", "medgen:195802", "HP:0006532"], "information_content": 78.5}
{"id": "HP:0001269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemiparesis", "equivalent_identifiers": ["HP:0001269", "NCIT:C122583", "UMLS:C0018989", "MEDDRA:10019465", "SNOMEDCT:127377003", "SNOMEDCT:20022000"], "information_content": 86.3}
{"id": "MONDO:0003282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian cyst", "equivalent_identifiers": ["MONDO:0003282", "DOID:5119", "UMLS:C0029513", "UMLS:C0029927", "MESH:D010048", "MEDDRA:10011746", "MEDDRA:10011750", "MEDDRA:10033132", "MEDDRA:10033133", "MEDDRA:10033135", "NCIT:C3300", "SNOMEDCT:79883001", "medgen:14540", "ICD10:N83.2", "ICD9:620.2", "HP:0000138"], "information_content": 83.1}
{"id": "MONDO:0001286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exotropia", "equivalent_identifiers": ["MONDO:0001286", "DOID:1143", "UMLS:C0015310", "MESH:D005099", "MEDDRA:10013528", "MEDDRA:10013529", "MEDDRA:10015694", "MEDDRA:10015695", "NCIT:C34601", "SNOMEDCT:399054005", "SNOMEDCT:399252000", "medgen:4613", "icd11.foundation:2116859618", "ICD10:H50.1", "ICD9:378.1", "HP:0000577"], "information_content": 83.6}
{"id": "MONDO:0011385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intervertebral disk degenerative disorder", "equivalent_identifiers": ["MONDO:0011385", "DOID:90", "OMIM:603932", "EFO:0004994", "UMLS:C0158266", "MESH:D055959", "MEDDRA:10012152", "MEDDRA:10022627", "MEDDRA:10061246", "MEDDRA:10070241", "NCIT:C26983", "SNOMEDCT:77547008", "medgen:102357", "HP:0008419"], "information_content": 90.9}
{"id": "MONDO:0004920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocele", "equivalent_identifiers": ["MONDO:0004920", "DOID:9912", "EFO:1001859", "UMLS:C1720771", "MESH:D006848", "MEDDRA:10020488", "MEDDRA:10020502", "MEDDRA:10088637", "SNOMEDCT:26614003", "SNOMEDCT:386152007", "SNOMEDCT:55434001", "medgen:318568", "ICD10:N43", "HP:0000034"], "information_content": 88.2}
{"id": "HP:0025312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophoria", "equivalent_identifiers": ["HP:0025312", "UMLS:C0152216", "MEDDRA:10015474", "SNOMEDCT:62176008"], "information_content": 100.0}
{"id": "HP:0031817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating parathyroid hormone level", "equivalent_identifiers": ["HP:0031817", "UMLS:C0729198", "MEDDRA:10040362"], "information_content": 100.0}
{"id": "MONDO:0012672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholelithiasis", "equivalent_identifiers": ["MONDO:0012672", "DOID:10211", "OMIM:611465", "EFO:0004799", "UMLS:C0006739", "UMLS:C0008350", "UMLS:C1969115", "MESH:C566936", "MESH:D002769", "MEDDRA:10004674", "MEDDRA:10006986", "MEDDRA:10008629", "MEDDRA:10017650", "NCIT:C122822", "SNOMEDCT:266474003", "medgen:3039", "icd11.foundation:1268183934", "ICD9:574.5", "HP:0001081"], "information_content": 88.2}
{"id": "HP:0011108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent sinusitis", "equivalent_identifiers": ["HP:0011108", "UMLS:C0581354", "UMLS:C4280333", "MEDDRA:10066655", "SNOMEDCT:195788001"], "information_content": 100.0}
{"id": "MONDO:0005090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia", "equivalent_identifiers": ["MONDO:0005090", "DOID:5419", "OMIM:181500", "UMLS:C0036341", "UMLS:C4538533", "MESH:D012559", "MEDDRA:10012297", "MEDDRA:10039626", "MEDDRA:10039632", "MEDDRA:10046150", "MEDDRA:10046156", "NCIT:C3362", "SNOMEDCT:191526005", "SNOMEDCT:58214004", "medgen:48574", "icd11.foundation:1683919430", "ICD10:F20", "ICD9:295", "HP:0100753"], "information_content": 76.2}
{"id": "HP:0000627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Embryotoxon", "equivalent_identifiers": ["HP:0000627", "UMLS:C0344531", "UMLS:C0546967", "MEDDRA:10058647", "SNOMEDCT:253228006", "SNOMEDCT:392437005"], "information_content": 100.0}
{"id": "MONDO:0012524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticosterone methyloxidase type 2 deficiency", "equivalent_identifiers": ["MONDO:0012524", "OMIM:610600", "UMLS:C3463917", "medgen:483046"], "information_content": 100.0}
{"id": "MONDO:0005469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orthostatic hypotension", "equivalent_identifiers": ["MONDO:0005469", "EFO:0005252", "UMLS:C0020651", "MESH:D007024", "MEDDRA:10021100", "MEDDRA:10021104", "MEDDRA:10031127", "MEDDRA:10036433", "NCIT:C84970", "SNOMEDCT:28651003", "medgen:43803", "icd11.foundation:56009591", "HP:0001278"], "information_content": 92.8}
{"id": "HP:0032362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating corticosterone level", "equivalent_identifiers": ["HP:0032362", "UMLS:C5139295"], "information_content": 95.4}
{"id": "HP:0002902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyponatremia", "equivalent_identifiers": ["HP:0002902", "NCIT:C37976", "UMLS:C0020625", "UMLS:C3150755", "MEDDRA:10021036", "MEDDRA:10021037", "MEDDRA:10021038", "MEDDRA:10024927", "MEDDRA:10024930", "MEDDRA:10028670", "MEDDRA:10041265", "MEDDRA:10041270", "MEDDRA:10042819", "MEDDRA:10060494", "SNOMEDCT:89627008", "MESH:D007010"], "information_content": 92.8}
{"id": "HP:0020200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating 18-hydroxycortisone level", "equivalent_identifiers": ["HP:0020200", "UMLS:C5209282"], "information_content": 100.0}
{"id": "MONDO:0015900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoaldosteronism disease", "equivalent_identifiers": ["MONDO:0015900", "orphanet:181419", "UMLS:C0020595", "UMLS:C0857899", "UMLS:C1846226", "MESH:D006994", "MEDDRA:10020944", "MEDDRA:10040128", "MEDDRA:10075907", "MEDDRA:10075912", "NCIT:C113206", "SNOMEDCT:60086000", "medgen:208996", "HP:0004319"], "information_content": 85.5}
{"id": "HP:0000127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal salt wasting", "equivalent_identifiers": ["HP:0000127", "UMLS:C1846347"], "information_content": 100.0}
{"id": "MONDO:0014561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria, type VIIB", "equivalent_identifiers": ["MONDO:0014561", "DOID:0081134", "DOID:0110003", "OMIM:616271", "orphanet:445038", "EFO:0009014", "UMLS:C4225393", "UMLS:C5676893", "SNOMEDCT:764860006", "medgen:1810214"], "information_content": 100.0}
{"id": "HP:0033606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone marrow maturation arrest", "equivalent_identifiers": ["HP:0033606", "UMLS:C0302173", "SNOMEDCT:14998000"], "information_content": 92.8}
{"id": "HP:0001892", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal bleeding", "equivalent_identifiers": ["HP:0001892", "UMLS:C1458140", "MEDDRA:10005133", "MEDDRA:10005134", "MEDDRA:10018967", "MEDDRA:10055261", "SNOMEDCT:248250000"], "information_content": 66.9}
{"id": "MONDO:0003441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia", "equivalent_identifiers": ["MONDO:0003441", "DOID:543", "UMLS:C0013421", "UMLS:C0393593", "UMLS:C4020871", "MESH:D004421", "MESH:D020821", "MEDDRA:10013983", "MEDDRA:10013985", "NCIT:C34563", "SNOMEDCT:15802004", "medgen:3940", "ICD10:G24", "HP:0001332"], "information_content": 69.8}
{"id": "HP:0010920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zonular cataract", "equivalent_identifiers": ["HP:0010920", "UMLS:C1861821"], "information_content": 79.6}
{"id": "HP:0000211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trismus", "equivalent_identifiers": ["HP:0000211", "NCIT:C78651", "UMLS:C0041105", "UMLS:C1848474", "UMLS:C4228933", "UMLS:C4280672", "MEDDRA:10023158", "MEDDRA:10044684", "SNOMEDCT:87866006", "MESH:D014313"], "information_content": 100.0}
{"id": "HP:0001266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Choreoathetosis", "equivalent_identifiers": ["HP:0001266", "NCIT:C116730", "UMLS:C0085583", "UMLS:C0234967", "MEDDRA:10008753", "MEDDRA:10008754", "MEDDRA:10087866", "SNOMEDCT:43105007"], "information_content": 92.8}
{"id": "HP:0002151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating lactate concentration", "equivalent_identifiers": ["HP:0002151", "UMLS:C1836440", "UMLS:C4732918", "UMLS:C5888306"], "information_content": 95.4}
{"id": "HP:0002487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperkinesia", "equivalent_identifiers": ["HP:0002487", "NCIT:C116575", "NCIT:C50656", "UMLS:C0037763", "UMLS:C3887506", "MEDDRA:10020651", "MEDDRA:10020653", "MEDDRA:10028333", "MEDDRA:10028334", "MEDDRA:10028366", "MEDDRA:10041390", "MEDDRA:10041396", "MEDDRA:10041408", "SNOMEDCT:45352006", "MESH:D006948", "MESH:D013035"], "information_content": 92.8}
{"id": "HP:0008905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhizomelia", "equivalent_identifiers": ["HP:0008905", "UMLS:C1866730"], "information_content": 84.2}
{"id": "MONDO:0022687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar degeneration", "equivalent_identifiers": ["MONDO:0022687", "DOID:1443", "UMLS:C0262404", "UMLS:C0740279", "UMLS:C4020873", "MEDDRA:10008027", "NCIT:C84624", "SNOMEDCT:95646004", "medgen:75496", "ICD9:331.9", "HP:0001272"], "information_content": 65.8}
{"id": "HP:0033229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachioradialis areflexia", "equivalent_identifiers": ["HP:0033229", "UMLS:C5539438"], "information_content": 100.0}
{"id": "MONDO:0003785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukopenia", "equivalent_identifiers": ["MONDO:0003785", "DOID:615", "EFO:0004233", "UMLS:C0023530", "UMLS:C0750394", "MESH:D007970", "MEDDRA:10011982", "MEDDRA:10024283", "MEDDRA:10024285", "MEDDRA:10024384", "MEDDRA:10047942", "MEDDRA:10048552", "MEDDRA:10049182", "MEDDRA:10051617", "MEDDRA:10056731", "MEDDRA:10068177", "MEDDRA:10068178", "NCIT:C26816", "SNOMEDCT:419188005", "SNOMEDCT:84828003", "medgen:6073", "ICD10:D72.819", "ICD9:288.50", "HP:0001882"], "information_content": 67.7}
{"id": "HP:0002490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF lactate", "equivalent_identifiers": ["HP:0002490", "UMLS:C1167918", "MEDDRA:10059750"], "information_content": 100.0}
{"id": "HP:0001998", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal hypoglycemia", "equivalent_identifiers": ["HP:0001998", "NCIT:C99237", "UMLS:C0158986", "MEDDRA:10020994", "MEDDRA:10021006", "MEDDRA:10028943", "MEDDRA:10028944", "SNOMEDCT:52767006"], "information_content": 100.0}
{"id": "HP:0001558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased fetal movement", "equivalent_identifiers": ["HP:0001558", "UMLS:C0235659", "UMLS:C4703371", "MEDDRA:10016866", "MEDDRA:10054744", "MEDDRA:10068449", "MEDDRA:10068461", "SNOMEDCT:276369006"], "information_content": 90.9}
{"id": "MONDO:0005252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart failure", "equivalent_identifiers": ["MONDO:0005252", "EFO:0003144", "UMLS:C0018801", "UMLS:C0018802", "UMLS:C0264716", "UMLS:C1959583", "MESH:D006333", "MEDDRA:10007554", "MEDDRA:10007555", "MEDDRA:10007558", "MEDDRA:10007559", "MEDDRA:10007562", "MEDDRA:10007564", "MEDDRA:10007568", "MEDDRA:10007569", "MEDDRA:10007582", "MEDDRA:10008908", "MEDDRA:10010682", "MEDDRA:10010684", "MEDDRA:10016145", "MEDDRA:10016146", "MEDDRA:10019279", "MEDDRA:10019280", "MEDDRA:10019282", "MEDDRA:10019284", "MEDDRA:10019285", "MEDDRA:10019290", "MEDDRA:10022462", "NCIT:C50577", "SNOMEDCT:42343007", "SNOMEDCT:48447003", "SNOMEDCT:84114007", "medgen:6749", "icd11.foundation:1458683894", "HP:0001635"], "information_content": 75.7}
{"id": "HP:0001319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Floppy Infant", "equivalent_identifiers": ["HP:0001319", "NCIT:C116708", "UMLS:C0270971", "UMLS:C2267233", "MEDDRA:10021119", "MEDDRA:10051004", "MEDDRA:10053153", "SNOMEDCT:205294008", "SNOMEDCT:33010005"], "information_content": 95.4}
{"id": "MONDO:0017359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria", "equivalent_identifiers": ["MONDO:0017359", "DOID:0060336", "OMIM.PS:250950", "orphanet:289902", "UMLS:C3696376", "MESH:C579867", "NCIT:C98678", "SNOMEDCT:237950009", "medgen:777186", "icd11.foundation:1008261602", "ICD10:E71.111", "HP:0003535"], "information_content": 84.2}
{"id": "MONDO:0030876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardioacrofacial dysplasia 1", "equivalent_identifiers": ["MONDO:0030876", "OMIM:619142", "UMLS:C5436885", "medgen:1777656"], "information_content": 100.0}
{"id": "HP:0009826", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb undergrowth", "equivalent_identifiers": ["HP:0009826", "UMLS:C0239399"], "information_content": 67.9}
{"id": "MONDO:0015273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complete atrioventricular canal", "equivalent_identifiers": ["MONDO:0015273", "orphanet:1329", "UMLS:C0221215", "MESH:C535974", "NCIT:C186234", "SNOMEDCT:360481003", "medgen:65132", "HP:0001674"], "information_content": 90.9}
{"id": "HP:0002164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nail dysplasia", "equivalent_identifiers": ["HP:0002164", "UMLS:C1834405", "MEDDRA:10088402"], "information_content": 80.9}
{"id": "HP:0011833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overhanging nasal tip", "equivalent_identifiers": ["HP:0011833", "UMLS:C0426430", "SNOMEDCT:249328007"], "information_content": 100.0}
{"id": "HP:0000191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accessory oral frenulum", "equivalent_identifiers": ["HP:0000191", "UMLS:C4021814"], "information_content": 100.0}
{"id": "MONDO:0020927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial polydactyly", "equivalent_identifiers": ["MONDO:0020927", "OMIM.PS:174200", "UMLS:C0220697", "MESH:C562429", "MEDDRA:10089191", "medgen:67394", "HP:0100259"], "information_content": 81.3}
{"id": "MONDO:0020290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial atrioventricular septal defect", "equivalent_identifiers": ["MONDO:0020290", "DOID:0050651", "OMIM.PS:606215", "orphanet:98722", "UMLS:C0014116", "UMLS:C1389016", "UMLS:C4732742", "MESH:D004694", "MEDDRA:10014656", "MEDDRA:10014658", "MEDDRA:10057460", "NCIT:C101029", "SNOMEDCT:15459006", "ICD9:745.6", "HP:0006695"], "information_content": 81.7}
{"id": "HP:0100818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long thorax", "equivalent_identifiers": ["HP:0100818", "UMLS:C0575484", "SNOMEDCT:298710001"], "information_content": 100.0}
{"id": "HP:0000699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diastema", "equivalent_identifiers": ["HP:0000699", "UMLS:C0011998", "MEDDRA:10078915", "SNOMEDCT:35591002", "SNOMEDCT:734009000", "MESH:D003970"], "information_content": 92.8}
{"id": "HP:0000698", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conical tooth", "equivalent_identifiers": ["HP:0000698", "UMLS:C0266037", "UMLS:C4012359", "SNOMEDCT:1162597008", "SNOMEDCT:29553002"], "information_content": 87.2}
{"id": "MONDO:0032631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 27", "equivalent_identifiers": ["MONDO:0032631", "DOID:0112090", "OMIM:618248", "UMLS:C4748826", "medgen:1648481"], "information_content": 100.0}
{"id": "MONDO:0016215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic quadriplegic cerebral palsy", "equivalent_identifiers": ["MONDO:0016215", "DOID:10970", "OMIM.PS:612900", "orphanet:210141", "UMLS:C0154697", "UMLS:C0426970", "MEDDRA:10021744", "MEDDRA:10037720", "MEDDRA:10074398", "NCIT:C116904", "SNOMEDCT:192965001", "SNOMEDCT:275468009", "medgen:98433", "icd11.foundation:1155284708", "ICD9:343.2", "HP:0002510"], "information_content": 90.9}
{"id": "HP:0011923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased activity of mitochondrial complex I", "equivalent_identifiers": ["HP:0011923", "UMLS:C2677650", "UMLS:C4020739"], "information_content": 100.0}
{"id": "HP:0000511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertical supranuclear gaze palsy", "equivalent_identifiers": ["HP:0000511", "UMLS:C0339652", "UMLS:C1843369", "SNOMEDCT:246773002"], "information_content": 92.8}
{"id": "MONDO:0008020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple exostoses with spastic tetraparesis", "equivalent_identifiers": ["MONDO:0008020", "OMIM:158345", "UMLS:C1834724", "MESH:C563566", "medgen:371889"], "information_content": 100.0}
{"id": "HP:0002762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple exostoses", "equivalent_identifiers": ["HP:0002762", "EFO:0005560", "NCIT:C5183", "UMLS:C0015306", "UMLS:C1851413", "MEDDRA:10069148", "SNOMEDCT:254044004", "MESH:D005097"], "information_content": 87.2}
{"id": "HP:0001285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spastic tetraparesis", "equivalent_identifiers": ["HP:0001285", "UMLS:C0575059", "MEDDRA:10049707", "SNOMEDCT:298282001"], "information_content": 100.0}
{"id": "MONDO:0008785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sideroblastic anemia 2", "equivalent_identifiers": ["MONDO:0008785", "DOID:0060065", "OMIM:205950", "UMLS:C2673914", "UMLS:C4225425", "MESH:C567145", "medgen:899109"], "information_content": 100.0}
{"id": "MONDO:0014555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome type A", "equivalent_identifiers": ["MONDO:0014555", "DOID:0070522", "OMIM:616265", "orphanet:263548", "UMLS:C4015729", "medgen:864166"], "information_content": 100.0}
{"id": "HP:0001595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hair morphology", "equivalent_identifiers": ["HP:0001595", "UMLS:C0157733", "UMLS:C2677869"], "information_content": 61.6}
{"id": "HP:0000989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pruritus", "equivalent_identifiers": ["HP:0000989", "NCIT:C3344", "NCIT:C35101", "UMLS:C0033774", "UMLS:C5700180", "MEDDRA:10023082", "MEDDRA:10023084", "MEDDRA:10023089", "MEDDRA:10023094", "MEDDRA:10037087", "MEDDRA:10037090", "MEDDRA:10037096", "MEDDRA:10046119", "SNOMEDCT:1240423001", "SNOMEDCT:279333002", "SNOMEDCT:418290006", "SNOMEDCT:418363000", "SNOMEDCT:424492005", "MESH:D011537"], "information_content": 67.9}
{"id": "HP:0010783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythema", "equivalent_identifiers": ["HP:0010783", "NCIT:C26775", "NCIT:C26901", "UMLS:C0016382", "UMLS:C0041834", "MEDDRA:10015150", "MEDDRA:10015151", "MEDDRA:10015225", "MEDDRA:10016821", "MEDDRA:10016824", "MEDDRA:10016825", "MEDDRA:10040842", "MEDDRA:10040850", "MEDDRA:10040916", "MEDDRA:10045865", "SNOMEDCT:238810007", "SNOMEDCT:247441003", "SNOMEDCT:444827008", "SNOMEDCT:70819003", "SNOMEDCT:86735004", "MESH:D004890", "MESH:D005483"], "information_content": 78.8}
{"id": "HP:0040190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White scaling skin", "equivalent_identifiers": ["HP:0040190", "UMLS:C4073146"], "information_content": 100.0}
{"id": "MONDO:0009772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculorenocerebellar syndrome", "equivalent_identifiers": ["MONDO:0009772", "OMIM:257970", "orphanet:2715", "UMLS:C1850331", "MESH:C537739", "SNOMEDCT:1208341008", "medgen:340516"], "information_content": 100.0}
{"id": "MONDO:0001167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic diplegia", "equivalent_identifiers": ["MONDO:0001167", "DOID:10965", "UMLS:C0023882", "UMLS:C0154695", "UMLS:C0270804", "MESH:C537945", "MEDDRA:10013035", "MEDDRA:10021741", "MEDDRA:10033834", "MEDDRA:10041414", "MEDDRA:10067130", "MEDDRA:10088839", "NCIT:C34781", "SNOMEDCT:281411007", "SNOMEDCT:58193001", "medgen:124371", "ICD10:G80.1", "ICD9:343.0", "HP:0001264"], "information_content": 100.0}
{"id": "MONDO:0005240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney disorder", "equivalent_identifiers": ["MONDO:0005240", "DOID:557", "EFO:0003086", "UMLS:C0022658", "UMLS:C1408258", "MESH:D007674", "MEDDRA:10013263", "MEDDRA:10029149", "MEDDRA:10029151", "MEDDRA:10029154", "MEDDRA:10038428", "MEDDRA:10038429", "MEDDRA:10051051", "MEDDRA:10051052", "NCIT:C3149", "NCIT:C34843", "SNOMEDCT:90708001", "medgen:9635", "HP:0000112"], "information_content": 57.2}
{"id": "MONDO:0000490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomerulosclerosis", "equivalent_identifiers": ["MONDO:0000490", "DOID:0050851", "UMLS:C0178664", "UMLS:C4476521", "MEDDRA:10048614", "MEDDRA:10061989", "NCIT:C120888", "SNOMEDCT:197661001", "SNOMEDCT:82646005", "medgen:61248", "icd11.foundation:2068645853", "HP:0000096"], "information_content": 79.6}
{"id": "MONDO:0004580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal degeneration", "equivalent_identifiers": ["MONDO:0004580", "DOID:8466", "UMLS:C0035304", "MESH:D012162", "MEDDRA:10012159", "MEDDRA:10038845", "NCIT:C34979", "SNOMEDCT:95695004", "medgen:48432", "HP:0000546"], "information_content": 61.0}
{"id": "MONDO:0014670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 9", "equivalent_identifiers": ["MONDO:0014670", "OMIM:616503", "UMLS:C4225303", "medgen:903881"], "information_content": 100.0}
{"id": "MONDO:0800133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypoplasia", "equivalent_identifiers": ["MONDO:0800133", "UMLS:C0265783", "MEDDRA:10037407", "NCIT:C99035", "SNOMEDCT:80825009", "medgen:78574", "HP:0002089"], "information_content": 95.4}
{"id": "MONDO:0005336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy", "equivalent_identifiers": ["MONDO:0005336", "DOID:423", "EFO:0004145", "UMLS:C0026848", "MEDDRA:10013237", "MEDDRA:10028300", "MEDDRA:10028301", "MEDDRA:10028302", "MEDDRA:10028640", "MEDDRA:10028641", "MEDDRA:10028649", "NCIT:C101216", "SNOMEDCT:129565002", "medgen:10135", "icd11.foundation:1870184184", "ICD10:G72.9", "ICD9:359.9", "HP:0003198"], "information_content": 59.1}
{"id": "HP:0001196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short umbilical cord", "equivalent_identifiers": ["HP:0001196", "NCIT:C113152", "UMLS:C0266786", "MEDDRA:10045453", "SNOMEDCT:156222001", "SNOMEDCT:59795007"], "information_content": 95.4}
{"id": "HP:0100295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber atrophy", "equivalent_identifiers": ["HP:0100295", "UMLS:C0333751", "SNOMEDCT:67867005"], "information_content": 90.9}
{"id": "HP:0010963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of stomach bubble on fetal sonography", "equivalent_identifiers": ["HP:0010963", "UMLS:C4023625"], "information_content": 100.0}
{"id": "MONDO:0008339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antecubital pterygium syndrome", "equivalent_identifiers": ["MONDO:0008339", "OMIM:178200", "orphanet:2987", "UMLS:C1867439", "MESH:C566738", "SNOMEDCT:784351000", "medgen:401231", "HP:0009760"], "information_content": 100.0}
{"id": "HP:0000775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the diaphragm", "equivalent_identifiers": ["HP:0000775", "UMLS:C1848873"], "information_content": 77.8}
{"id": "MONDO:0002257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankylosis", "equivalent_identifiers": ["MONDO:0002257", "DOID:227", "UMLS:C0003090", "MESH:D000844", "MEDDRA:10002559", "MEDDRA:10002566", "MEDDRA:10002571", "MEDDRA:10023198", "NCIT:C171941", "SNOMEDCT:111227009", "SNOMEDCT:36504009", "medgen:8101", "ICD10:M24.6", "ICD9:718.5", "HP:0031013"], "information_content": 92.8}
{"id": "HP:0001060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axillary pterygium", "equivalent_identifiers": ["HP:0001060", "UMLS:C1844738"], "information_content": 100.0}
{"id": "MONDO:0010746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adducted thumb", "equivalent_identifiers": ["MONDO:0010746", "OMIM:314100", "UMLS:C0431886", "UMLS:C3554617", "MEDDRA:10090363", "SNOMEDCT:205273005", "medgen:98140", "HP:0001181"], "information_content": 100.0}
{"id": "HP:0034393", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elbow extension contracture", "equivalent_identifiers": ["HP:0034393", "UMLS:C0409337", "SNOMEDCT:202272006"], "information_content": 100.0}
{"id": "HP:0009473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joint contracture of the hand", "equivalent_identifiers": ["HP:0009473", "UMLS:C0158113", "MEDDRA:10010821", "SNOMEDCT:86414002"], "information_content": 75.2}
{"id": "MONDO:0022823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital contractures", "equivalent_identifiers": ["MONDO:0022823", "UMLS:C0332878", "medgen:83066", "HP:0002803"], "information_content": 87.2}
{"id": "HP:0001239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wrist flexion contracture", "equivalent_identifiers": ["HP:0001239", "UMLS:C0409345", "SNOMEDCT:202275008"], "information_content": 92.8}
{"id": "HP:0006543", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiorespiratory arrest", "equivalent_identifiers": ["HP:0006543", "NCIT:C50483", "UMLS:C0600228", "MEDDRA:10007617", "MEDDRA:10007644", "SNOMEDCT:410430005"], "information_content": 84.2}
{"id": "HP:0005659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic kyphoscoliosis", "equivalent_identifiers": ["HP:0005659", "UMLS:C4015465"], "information_content": 100.0}
{"id": "MONDO:0030483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 88", "equivalent_identifiers": ["MONDO:0030483", "DOID:0061058", "OMIM:619630", "UMLS:C5562026", "medgen:1794236"], "information_content": 100.0}
{"id": "MONDO:0015691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophilia", "equivalent_identifiers": ["MONDO:0015691", "DOID:999", "orphanet:168956", "EFO:1001467", "UMLS:C0014457", "UMLS:C1540912", "UMLS:C1636667", "MESH:D004802", "MESH:D017681", "MEDDRA:10014950", "MEDDRA:10048643", "NCIT:C27038", "SNOMEDCT:1156250009", "SNOMEDCT:393573009", "SNOMEDCT:419455006", "medgen:280990", "icd11.foundation:110429919", "ICD10:D72.1", "ICD9:288.3", "HP:0001880"], "information_content": 79.0}
{"id": "HP:0020087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BCGosis", "equivalent_identifiers": ["HP:0020087", "NCIT:C113669", "UMLS:C3830467", "MEDDRA:10076666"], "information_content": 100.0}
{"id": "MONDO:0010877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 5", "equivalent_identifiers": ["MONDO:0010877", "DOID:0080067", "OMIM:600361", "orphanet:64751", "UMLS:C0751602", "UMLS:C4721916", "SNOMEDCT:737227004", "SNOMEDCT:76043009", "SNOMEDCT:771143004", "medgen:1648461"], "information_content": 100.0}
{"id": "MONDO:0004183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "axonal neuropathy", "equivalent_identifiers": ["MONDO:0004183", "DOID:7319", "UMLS:C0270921", "UMLS:C1263857", "MEDDRA:10003882", "NCIT:C27301", "SNOMEDCT:128208007", "SNOMEDCT:60703000", "medgen:266071", "HP:0003477"], "information_content": 88.2}
{"id": "HP:0003431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased motor nerve conduction velocity", "equivalent_identifiers": ["HP:0003431", "UMLS:C1858729"], "information_content": 100.0}
{"id": "HP:0001288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gait disturbance", "equivalent_identifiers": ["HP:0001288", "NCIT:C78303", "UMLS:C0575081", "MEDDRA:10000136", "MEDDRA:10000200", "MEDDRA:10013224", "MEDDRA:10017573", "MEDDRA:10017574", "MEDDRA:10017576", "MEDDRA:10017577", "MEDDRA:10017578", "SNOMEDCT:22325002"], "information_content": 73.2}
{"id": "HP:0012514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb pain", "equivalent_identifiers": ["HP:0012514", "NCIT:C34764", "UMLS:C0023222", "MEDDRA:10024130", "MEDDRA:10033446", "MEDDRA:10033459", "MEDDRA:10033522", "SNOMEDCT:10601006"], "information_content": 84.2}
{"id": "HP:0003690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb muscle weakness", "equivalent_identifiers": ["HP:0003690", "UMLS:C0587246", "MEDDRA:10047868", "MEDDRA:10065012", "MEDDRA:10065702", "SNOMEDCT:713514005"], "information_content": 79.3}
{"id": "MONDO:0043862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "voice disorders", "equivalent_identifiers": ["MONDO:0043862", "EFO:0009692", "UMLS:C0042940", "UMLS:C0264600", "UMLS:C1527340", "UMLS:C1527344", "MESH:D014832", "MEDDRA:10013952", "MEDDRA:10047681", "MEDDRA:10047682", "MEDDRA:10047683", "MEDDRA:10077001", "MEDDRA:10077002", "NCIT:C3441", "NCIT:C86950", "SNOMEDCT:16617009", "SNOMEDCT:38160000", "SNOMEDCT:71941009", "medgen:12120", "HP:0001618"], "information_content": 90.9}
{"id": "HP:0009027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot Drop", "equivalent_identifiers": ["HP:0009027", "UMLS:C0085684", "UMLS:C1866141", "MEDDRA:10016967", "MEDDRA:10016981", "SNOMEDCT:6077001"], "information_content": 100.0}
{"id": "HP:0002359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frequent falls", "equivalent_identifiers": ["HP:0002359", "UMLS:C0850703"], "information_content": 100.0}
{"id": "HP:0001765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hammertoe", "equivalent_identifiers": ["HP:0001765", "UMLS:C1136179", "MEDDRA:10019108", "SNOMEDCT:122481008"], "information_content": 100.0}
{"id": "MONDO:0009611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 4", "equivalent_identifiers": ["MONDO:0009611", "DOID:0110006", "OMIM:250951", "orphanet:67048", "UMLS:C1855126", "MESH:C565393", "SNOMEDCT:297233004", "medgen:344425", "icd11.foundation:185382411"], "information_content": 100.0}
{"id": "MONDO:0006987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subvalvular aortic stenosis", "equivalent_identifiers": ["MONDO:0006987", "DOID:5805", "EFO:1001199", "UMLS:C0340375", "MESH:D001020", "MEDDRA:10042431", "NCIT:C85172", "SNOMEDCT:204368006", "medgen:90950", "HP:0001682"], "information_content": 92.8}
{"id": "HP:0003344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-Methylglutaric aciduria", "equivalent_identifiers": ["HP:0003344", "UMLS:C3151952"], "information_content": 100.0}
{"id": "HP:0200128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biventricular hypertrophy", "equivalent_identifiers": ["HP:0200128", "NCIT:C106502", "UMLS:C0281788", "MEDDRA:10057553"], "information_content": 100.0}
{"id": "HP:0007033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar dysplasia", "equivalent_identifiers": ["HP:0007033", "UMLS:C3278322", "MEDDRA:10072942"], "information_content": 90.9}
{"id": "MONDO:0013269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 91", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013269", "DOID:0110536", "OMIM:613453", "UMLS:C3150704", "medgen:462054"], "information_content": 100.0}
{"id": "HP:0001730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive hearing impairment", "equivalent_identifiers": ["HP:0001730", "UMLS:C1842138"], "information_content": 95.4}
{"id": "MONDO:0011523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 6", "equivalent_identifiers": ["MONDO:0011523", "DOID:0110128", "OMIM:605231", "UMLS:C1858054", "MESH:C565738", "medgen:347610"], "information_content": 100.0}
{"id": "HP:0003241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "External genital hypoplasia", "equivalent_identifiers": ["HP:0003241", "UMLS:C1855333"], "information_content": 73.2}
{"id": "HP:0000580", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigmentary retinopathy", "equivalent_identifiers": ["HP:0000580", "UMLS:C1328514", "UMLS:C1833999", "UMLS:C4551715", "MEDDRA:10054856", "MEDDRA:10062964"], "information_content": 92.8}
{"id": "MONDO:0005015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus", "equivalent_identifiers": ["MONDO:0005015", "DOID:9351", "EFO:0000400", "UMLS:C0011849", "MESH:D003920", "MEDDRA:10012594", "MEDDRA:10012601", "MEDDRA:10012614", "NCIT:C2985", "SNOMEDCT:73211009", "medgen:8350", "icd11.foundation:465177735", "ICD10:E08-E13", "ICD9:250", "HP:0000819"], "information_content": 66.6}
{"id": "MONDO:0021002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly", "equivalent_identifiers": ["MONDO:0021002", "DOID:11193", "UMLS:C0039075", "MESH:D013576", "MEDDRA:10042778", "SNOMEDCT:373413006", "medgen:52619", "ICD10:Q70", "ICD9:755.1", "HP:0001159"], "information_content": 70.3}
{"id": "MONDO:0014009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 7", "equivalent_identifiers": ["MONDO:0014009", "DOID:0060716", "OMIM:615022", "UMLS:C3554348", "medgen:767262"], "information_content": 100.0}
{"id": "MONDO:0019269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis", "equivalent_identifiers": ["MONDO:0019269", "DOID:1697", "orphanet:79354", "UMLS:C0020757", "MESH:D007057", "MEDDRA:10021197", "MEDDRA:10021198", "MEDDRA:10040812", "NCIT:C84776", "SNOMEDCT:782957005", "medgen:7002", "HP:0008064"], "information_content": 72.3}
{"id": "HP:0025114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypergranulosis", "equivalent_identifiers": ["HP:0025114", "UMLS:C3279547"], "information_content": 100.0}
{"id": "HP:0025092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acanthosis", "equivalent_identifiers": ["HP:0025092", "NCIT:C35265", "NCIT:C53296", "UMLS:C0221270", "UMLS:C0263641", "MEDDRA:10000349", "SNOMEDCT:23620008", "SNOMEDCT:75307004"], "information_content": 72.1}
{"id": "MONDO:0043233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythroderma", "equivalent_identifiers": ["MONDO:0043233", "EFO:0009456", "UMLS:C0011606", "UMLS:C5139033", "MESH:D003873", "MEDDRA:10012455", "MEDDRA:10012456", "MEDDRA:10012457", "MEDDRA:10015277", "MEDDRA:10015665", "MEDDRA:10015666", "MEDDRA:10018082", "MEDDRA:10052584", "MEDDRA:10062416", "MEDDRA:10062434", "MEDDRA:10087662", "NCIT:C39646", "SNOMEDCT:200948000", "SNOMEDCT:396349005", "SNOMEDCT:396350005", "SNOMEDCT:399992009", "SNOMEDCT:400005007", "medgen:3767", "HP:0001019"], "information_content": 90.9}
{"id": "HP:0000982", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmoplantar keratoderma", "equivalent_identifiers": ["HP:0000982", "UMLS:C4551675", "MEDDRA:10033554", "MESH:D007645"], "information_content": 92.8}
{"id": "MONDO:0010106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testes, rudimentary", "equivalent_identifiers": ["MONDO:0010106", "OMIM:273150", "UMLS:C1848901", "medgen:336448"], "information_content": 100.0}
{"id": "MONDO:0005387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ovarian failure", "equivalent_identifiers": ["MONDO:0005387", "DOID:5426", "EFO:0004266", "UMLS:C0085215", "UMLS:C0948896", "MESH:D016649", "MEDDRA:10033168", "MEDDRA:10036602", "MEDDRA:10036721", "MEDDRA:10052649", "MEDDRA:10052660", "MEDDRA:10075905", "NCIT:C113348", "NCIT:C113352", "SNOMEDCT:370999003", "SNOMEDCT:65846009", "medgen:38820", "ICD10:E28.3", "HP:0000815"], "information_content": 71.1}
{"id": "HP:0000050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic male external genitalia", "equivalent_identifiers": ["HP:0000050", "UMLS:C1852534"], "information_content": 80.9}
{"id": "MONDO:0009667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "equivalent_identifiers": ["MONDO:0009667", "DOID:0111236", "OMIM:253280", "UMLS:C3151519", "NCIT:C126740", "medgen:462869"], "information_content": 100.0}
{"id": "HP:0007759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cloudy cornea", "equivalent_identifiers": ["HP:0007759", "UMLS:C0423250", "UMLS:C1856661", "MEDDRA:10079178", "SNOMEDCT:246957002"], "information_content": 82.6}
{"id": "MONDO:0009576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalocornea", "equivalent_identifiers": ["MONDO:0009576", "DOID:0060305", "OMIM:249300", "UMLS:C0344530", "UMLS:C1167712", "UMLS:C5574682", "UMLS:C5975700", "MESH:C562829", "MEDDRA:10059253", "MEDDRA:10059297", "SNOMEDCT:204118005", "SNOMEDCT:268158009", "medgen:1807965", "icd11.foundation:58849242", "HP:0000485"], "information_content": 90.9}
{"id": "HP:0006829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe muscular hypotonia", "equivalent_identifiers": ["HP:0006829", "UMLS:C1839630"], "information_content": 100.0}
{"id": "HP:0001290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hypotonia", "equivalent_identifiers": ["HP:0001290", "UMLS:C1858120"], "information_content": 92.8}
{"id": "HP:0003194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short nasal bridge", "equivalent_identifiers": ["HP:0003194", "UMLS:C1854689"], "information_content": 95.4}
{"id": "MONDO:0009277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 3A", "equivalent_identifiers": ["MONDO:0009277", "DOID:11211", "OMIM:231300", "orphanet:98976", "UMLS:C0311251", "UMLS:C1856439", "UMLS:C3278153", "UMLS:C4551507", "MESH:C565547", "MEDDRA:10006587", "MEDDRA:10006589", "MEDDRA:10006590", "MEDDRA:10040682", "NCIT:C148260", "medgen:383912", "ICD9:743.21", "HP:0000557"], "information_content": 100.0}
{"id": "HP:0002350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar cyst", "equivalent_identifiers": ["HP:0002350", "UMLS:C1847762", "MEDDRA:10088238"], "information_content": 92.8}
{"id": "MONDO:0020121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy", "equivalent_identifiers": ["MONDO:0020121", "DOID:9884", "orphanet:98473", "UMLS:C0026850", "UMLS:C1864711", "MESH:D009136", "MEDDRA:10028356", "MEDDRA:10028357", "NCIT:C84910", "SNOMEDCT:193225000", "SNOMEDCT:73297009", "medgen:44527", "icd11.foundation:1464662404", "HP:0003560"], "information_content": 65.1}
{"id": "HP:0008045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged flash visual evoked potentials", "equivalent_identifiers": ["HP:0008045", "UMLS:C4021558"], "information_content": 100.0}
{"id": "HP:0007738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uncontrolled eye movements", "equivalent_identifiers": ["HP:0007738", "UMLS:C1854686"], "information_content": 100.0}
{"id": "HP:0002365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the brainstem", "equivalent_identifiers": ["HP:0002365", "UMLS:C1842688"], "information_content": 100.0}
{"id": "MONDO:0018869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cobblestone lissencephaly", "equivalent_identifiers": ["MONDO:0018869", "orphanet:51577", "UMLS:C0431376", "MESH:D054222", "SNOMEDCT:253149002", "medgen:96562", "HP:0007260"], "information_content": 92.8}
{"id": "HP:0001302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pachygyria", "equivalent_identifiers": ["HP:0001302", "UMLS:C0266483", "MEDDRA:10048910", "MEDDRA:10048914", "SNOMEDCT:23024003"], "information_content": 87.2}
{"id": "HP:0000654", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased light- and dark-adapted electroretinogram amplitude", "equivalent_identifiers": ["HP:0000654", "UMLS:C1839025"], "information_content": 100.0}
{"id": "HP:0001105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal atrophy", "equivalent_identifiers": ["HP:0001105", "UMLS:C0521694", "MEDDRA:10038832", "SNOMEDCT:405722004"], "information_content": 81.7}
{"id": "HP:0000550", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undetectable electroretinogram", "equivalent_identifiers": ["HP:0000550", "UMLS:C1855685"], "information_content": 100.0}
{"id": "HP:0007370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the corpus callosum", "equivalent_identifiers": ["HP:0007370", "UMLS:C1861866"], "information_content": 87.2}
{"id": "HP:0007770", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the retina", "equivalent_identifiers": ["HP:0007770", "UMLS:C1854685"], "information_content": 95.4}
{"id": "HP:0007973", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal dysplasia", "equivalent_identifiers": ["HP:0007973", "UMLS:C0035313", "SNOMEDCT:95494009", "MESH:D015792"], "information_content": 95.4}
{"id": "MONDO:0001476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma", "equivalent_identifiers": ["MONDO:0001476", "DOID:12270", "UMLS:C0009363", "MESH:D003103", "MEDDRA:10009934", "MEDDRA:10009937", "NCIT:C98877", "SNOMEDCT:92828000", "SNOMEDCT:93390002", "medgen:1046", "ICD10:Q13.0", "HP:0000589"], "information_content": 78.5}
{"id": "MONDO:0005041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma", "equivalent_identifiers": ["MONDO:0005041", "DOID:1686", "UMLS:C0017601", "MESH:D005901", "MEDDRA:10018304", "MEDDRA:10018326", "MEDDRA:10018332", "MEDDRA:10045894", "NCIT:C26782", "SNOMEDCT:23986001", "medgen:42224", "icd11.foundation:499924848", "ICD10:H40", "ICD9:365", "HP:0000501"], "information_content": 73.1}
{"id": "MONDO:0000087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymicrogyria", "equivalent_identifiers": ["MONDO:0000087", "DOID:0080918", "orphanet:35981", "UMLS:C0266464", "UMLS:C2362742", "MESH:D065706", "MEDDRA:10073489", "NCIT:C116936", "NCIT:C98988", "SNOMEDCT:4945003", "medgen:78605", "icd11.foundation:2081858551", "HP:0002126"], "information_content": 81.3}
{"id": "MONDO:0010435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus 6, congenital, X-linked", "equivalent_identifiers": ["MONDO:0010435", "DOID:0111795", "OMIM:300814", "UMLS:C3151752", "medgen:463102"], "information_content": 100.0}
{"id": "HP:0007814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal pigment epithelial mottling", "equivalent_identifiers": ["HP:0007814", "UMLS:C1857644"], "information_content": 95.4}
{"id": "MONDO:0011284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "astigmatism", "equivalent_identifiers": ["MONDO:0011284", "DOID:11782", "OMIM:603047", "UMLS:C0004106", "MESH:D001251", "MEDDRA:10003569", "MEDDRA:10003570", "SNOMEDCT:82649003", "medgen:2473", "icd11.foundation:402558626", "ICD10:H52.2", "ICD9:367.2", "HP:0000483"], "information_content": 84.8}
{"id": "HP:0007894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypopigmentation of the fundus", "equivalent_identifiers": ["HP:0007894", "UMLS:C0151891", "MEDDRA:10012361", "MEDDRA:10038846", "MEDDRA:10038892", "SNOMEDCT:95694000"], "information_content": 90.9}
{"id": "MONDO:0011829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenzyme Q10 deficiency, primary, 1", "equivalent_identifiers": ["MONDO:0011829", "DOID:0070238", "OMIM:607426", "UMLS:C3551954", "medgen:764868"], "information_content": 100.0}
{"id": "HP:0002168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scanning speech", "equivalent_identifiers": ["HP:0002168", "UMLS:C0240952", "UMLS:C0278184", "UMLS:C0522198", "SNOMEDCT:102935005", "SNOMEDCT:77420001"], "information_content": 100.0}
{"id": "MONDO:0005560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain disorder", "equivalent_identifiers": ["MONDO:0005560", "DOID:936", "EFO:0005774", "UMLS:C0006111", "UMLS:C0085584", "MESH:D001927", "MEDDRA:10006120", "MEDDRA:10014623", "MEDDRA:10014625", "MEDDRA:10014636", "MEDDRA:10014641", "NCIT:C26920", "NCIT:C96413", "SNOMEDCT:81308009", "medgen:14214", "ICD10:G93.40", "ICD10:G93.9", "ICD9:348.30", "ICD9:348.9", "HP:0001298"], "information_content": 50.1}
{"id": "MONDO:0100192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver failure", "equivalent_identifiers": ["MONDO:0100192", "UMLS:C0085605", "UMLS:C1306571", "MESH:D017093", "MESH:D048550", "MEDDRA:10016152", "MEDDRA:10019663", "MEDDRA:10024678", "MEDDRA:10056542", "NCIT:C141245", "NCIT:C26922", "SNOMEDCT:59927004", "medgen:88444", "HP:0001399"], "information_content": 86.3}
{"id": "MONDO:0010791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoglobinuria, recurrent", "equivalent_identifiers": ["MONDO:0010791", "OMIM:550500", "UMLS:C1838877", "MESH:C564018", "medgen:333201", "HP:0003652"], "information_content": 100.0}
{"id": "MONDO:0005377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome", "equivalent_identifiers": ["MONDO:0005377", "DOID:1184", "EFO:0004255", "UMLS:C0027726", "MESH:D009404", "MEDDRA:10029164", "MEDDRA:10042826", "NCIT:C34845", "SNOMEDCT:52254009", "medgen:10308", "icd11.foundation:1184209951", "ICD9:581", "HP:0000100"], "information_content": 70.2}
{"id": "MONDO:0006040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lactic acidosis", "equivalent_identifiers": ["MONDO:0006040", "EFO:1000036", "UMLS:C0001125", "UMLS:C0347959", "MESH:D000140", "MEDDRA:10000491", "MEDDRA:10023676", "NCIT:C98969", "SNOMEDCT:190882007", "SNOMEDCT:91273001", "medgen:1717", "HP:0003128"], "information_content": 83.6}
{"id": "HP:0000572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual loss", "equivalent_identifiers": ["HP:0000572", "NCIT:C118760", "UMLS:C3665386", "MEDDRA:10000186", "MEDDRA:10000187", "MEDDRA:10047508", "MEDDRA:10047510"], "information_content": 83.1}
{"id": "HP:0003323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive muscle weakness", "equivalent_identifiers": ["HP:0003323", "UMLS:C0240421"], "information_content": 92.8}
{"id": "HP:0003200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ragged-red muscle fibers", "equivalent_identifiers": ["HP:0003200", "UMLS:C3275417"], "information_content": 100.0}
{"id": "HP:0002572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic vomiting", "equivalent_identifiers": ["HP:0002572", "UMLS:C1838993", "UMLS:C1857202"], "information_content": 100.0}
{"id": "MONDO:0100313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis", "equivalent_identifiers": ["MONDO:0100313", "DOID:1312", "EFO:0004236", "UMLS:C0017668", "MESH:D005923", "MEDDRA:10016832", "MEDDRA:10065581", "MEDDRA:10067757", "MEDDRA:10087691", "NCIT:C37308", "SNOMEDCT:236403004", "SNOMEDCT:25821008", "medgen:4904", "HP:0000097"], "information_content": 83.1}
{"id": "HP:0040293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right hemiplegia", "equivalent_identifiers": ["HP:0040293", "UMLS:C0457433", "MEDDRA:10019470", "MEDDRA:10039154", "SNOMEDCT:278284007"], "information_content": 100.0}
{"id": "HP:0002172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postural instability", "equivalent_identifiers": ["HP:0002172", "NCIT:C122435", "UMLS:C0241981", "UMLS:C1843921", "UMLS:C4703374", "MEDDRA:10081452", "MEDDRA:10082069", "SNOMEDCT:282299006", "SNOMEDCT:387603000"], "information_content": 100.0}
{"id": "HP:0034369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of coenzyme Q10 in skeletal muscle", "equivalent_identifiers": ["HP:0034369", "UMLS:C3551958"], "information_content": 100.0}
{"id": "HP:0002506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse cerebral atrophy", "equivalent_identifiers": ["HP:0002506", "UMLS:C0598275"], "information_content": 95.4}
{"id": "HP:0002505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of ambulation", "equivalent_identifiers": ["HP:0002505", "UMLS:C1836843"], "information_content": 92.8}
{"id": "MONDO:0001529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancytopenia", "equivalent_identifiers": ["MONDO:0001529", "DOID:12450", "UMLS:C0030312", "MESH:D010198", "MEDDRA:10033661", "NCIT:C34889", "NCIT:C80693", "SNOMEDCT:127034005", "medgen:18281", "ICD10:D61.81", "ICD9:284.1", "HP:0001876"], "information_content": 71.2}
{"id": "MONDO:0032791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 10", "equivalent_identifiers": ["MONDO:0032791", "DOID:0112371", "OMIM:618506", "UMLS:C4760583", "medgen:1683634"], "information_content": 100.0}
{"id": "MONDO:0000156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigonocephaly", "equivalent_identifiers": ["MONDO:0000156", "UMLS:C0265535", "UMLS:C4280665", "UMLS:C4280666", "SNOMEDCT:28740008", "medgen:82713", "icd11.foundation:20816218", "HP:0000243"], "information_content": 88.2}
{"id": "HP:0002263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exaggerated cupid's bow", "equivalent_identifiers": ["HP:0002263", "UMLS:C1850629"], "information_content": 100.0}
{"id": "HP:0000696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed eruption of permanent teeth", "equivalent_identifiers": ["HP:0000696", "UMLS:C1849540"], "information_content": 92.8}
{"id": "HP:0100876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infra-orbital crease", "equivalent_identifiers": ["HP:0100876", "UMLS:C1857280"], "information_content": 100.0}
{"id": "MONDO:0030912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 47", "equivalent_identifiers": ["MONDO:0030912", "DOID:0080238", "OMIM:617635", "orphanet:502434", "UMLS:C4539951", "medgen:1622196"], "information_content": 100.0}
{"id": "HP:0010880", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased nuchal translucency", "equivalent_identifiers": ["HP:0010880", "UMLS:C4023676"], "information_content": 100.0}
{"id": "MONDO:0007316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chiari malformation type I", "equivalent_identifiers": ["MONDO:0007316", "OMIM:118420", "orphanet:268882", "UMLS:C0750929", "UMLS:C1861647", "MESH:C566133", "MEDDRA:10056944", "SNOMEDCT:253185002", "medgen:196689", "icd11.foundation:1383121646", "HP:0007099"], "information_content": 100.0}
{"id": "HP:0006304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely-spaced incisors", "equivalent_identifiers": ["HP:0006304", "UMLS:C0399545", "SNOMEDCT:196409003", "SNOMEDCT:734027002"], "information_content": 95.4}
{"id": "MONDO:0859307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleidocranial dysplasia 2", "equivalent_identifiers": ["MONDO:0859307", "OMIM:620099", "UMLS:C5774243", "medgen:1824016"], "information_content": 100.0}
{"id": "HP:0000680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed eruption of primary teeth", "equivalent_identifiers": ["HP:0000680", "UMLS:C1849538"], "information_content": 100.0}
{"id": "HP:0009882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of finger", "equivalent_identifiers": ["HP:0009882", "UMLS:C1839829"], "information_content": 87.2}
{"id": "HP:0200021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Down-sloping shoulders", "equivalent_identifiers": ["HP:0200021", "UMLS:C1856872"], "information_content": 100.0}
{"id": "HP:0002673", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coxa valga", "equivalent_identifiers": ["HP:0002673", "UMLS:C0239137", "UMLS:C3549698", "SNOMEDCT:299236004", "MESH:D060906"], "information_content": 95.4}
{"id": "MONDO:0008533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "teeth, supernumerary", "equivalent_identifiers": ["MONDO:0008533", "OMIM:187100", "UMLS:C0040457", "UMLS:C5441989", "MESH:D014096", "MEDDRA:10042572", "MEDDRA:10086332", "SNOMEDCT:196273001", "SNOMEDCT:367534004", "SNOMEDCT:8666004", "medgen:21210", "HP:0011069"], "information_content": 88.2}
{"id": "HP:0006660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplastic clavicle", "equivalent_identifiers": ["HP:0006660", "UMLS:C1857665"], "information_content": 100.0}
{"id": "MONDO:0007330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital pseudoarthrosis of clavicle", "equivalent_identifiers": ["MONDO:0007330", "OMIM:118980", "orphanet:66630", "UMLS:C0265565", "UMLS:C0426806", "UMLS:C0426811", "MESH:C562548", "SNOMEDCT:249685004", "SNOMEDCT:249690001", "SNOMEDCT:70794004", "medgen:75577", "icd11.foundation:1844778103", "HP:0006585"], "information_content": 100.0}
{"id": "HP:0008788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed pubic bone ossification", "equivalent_identifiers": ["HP:0008788", "UMLS:C1861528", "UMLS:C1866710", "UMLS:C4280411"], "information_content": 95.4}
{"id": "HP:0001216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ossification of carpal bones", "equivalent_identifiers": ["HP:0001216", "UMLS:C1841684", "UMLS:C4280599"], "information_content": 90.9}
{"id": "MONDO:0014942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 45", "equivalent_identifiers": ["MONDO:0014942", "DOID:0080428", "OMIM:617153", "UMLS:C4310691", "medgen:934658"], "information_content": 100.0}
{"id": "HP:0100704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral visual impairment", "equivalent_identifiers": ["HP:0100704", "NCIT:C118710", "UMLS:C3810365", "UMLS:C4048268", "MEDDRA:10076660", "SNOMEDCT:413924001", "SNOMEDCT:432141000124105"], "information_content": 100.0}
{"id": "MONDO:0008295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sporadic porphyria cutanea tarda", "equivalent_identifiers": ["MONDO:0008295", "OMIM:176090", "orphanet:443057", "UMLS:C1867968", "MESH:C566768", "SNOMEDCT:402479002", "medgen:357391", "icd11.foundation:1813031784"], "information_content": 100.0}
{"id": "HP:0001030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fragile skin", "equivalent_identifiers": ["HP:0001030", "UMLS:C0241181", "MEDDRA:10040851", "SNOMEDCT:247427007"], "information_content": 95.4}
{"id": "HP:0010473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Porphyrinuria", "equivalent_identifiers": ["HP:0010473", "UMLS:C0151861", "UMLS:C3887599", "UMLS:C3887600", "MEDDRA:10019449", "MEDDRA:10036192", "MEDDRA:10036193", "MEDDRA:10060472", "SNOMEDCT:44574006"], "information_content": 90.9}
{"id": "HP:0001395", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liver Fibrosis", "equivalent_identifiers": ["HP:0001395", "NCIT:C168581", "UMLS:C0239946", "MEDDRA:10016648", "MEDDRA:10019668", "SNOMEDCT:62484002"], "information_content": 88.2}
{"id": "MONDO:0019280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrichosis", "equivalent_identifiers": ["MONDO:0019280", "DOID:420", "orphanet:79365", "UMLS:C0020555", "UMLS:C4732731", "MESH:D006983", "MEDDRA:10020863", "MEDDRA:10020864", "MEDDRA:10086660", "NCIT:C79597", "SNOMEDCT:271607001", "SNOMEDCT:29966009", "medgen:43787", "icd11.foundation:2042627850", "ICD10:L68", "HP:0000998"], "information_content": 79.3}
{"id": "MONDO:0019289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperpigmentation of the skin", "equivalent_identifiers": ["MONDO:0019289", "orphanet:79375", "UMLS:C0162834", "UMLS:C0221436", "MESH:D017495", "MEDDRA:10020713", "MEDDRA:10020715", "MEDDRA:10027146", "MEDDRA:10027147", "MEDDRA:10040865", "MEDDRA:10050574", "MEDDRA:10084301", "NCIT:C79731", "SNOMEDCT:4830009", "SNOMEDCT:49238001", "SNOMEDCT:49765009", "medgen:57992", "HP:0000953"], "information_content": 69.3}
{"id": "MONDO:0007079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alcohol dependence", "equivalent_identifiers": ["MONDO:0007079", "DOID:0050741", "OMIM:103780", "EFO:0009458", "UMLS:C0001956", "UMLS:C0001973", "UMLS:C0679287", "UMLS:C0679288", "UMLS:C0679289", "UMLS:C0679290", "UMLS:C0841000", "UMLS:C3650363", "UMLS:C3887915", "UMLS:C4236928", "UMLS:C4236929", "UMLS:C4268204", "UMLS:C4268205", "UMLS:C4268206", "UMLS:C4268207", "UMLS:C4268208", "UMLS:C4268209", "UMLS:C4268210", "UMLS:C4268211", "UMLS:C4268212", "UMLS:C4268213", "UMLS:C4509034", "UMLS:C4509035", "UMLS:C4509036", "UMLS:C4509037", "UMLS:C4536264", "MEDDRA:10001585", "MEDDRA:10001586", "MEDDRA:10001590", "MEDDRA:10001594", "MEDDRA:10001639", "MEDDRA:10013037", "MEDDRA:10049894", "MEDDRA:10063499", "MEDDRA:10080021", "NCIT:C93040", "SNOMEDCT:1336085007", "SNOMEDCT:284591009", "SNOMEDCT:66590003", "SNOMEDCT:7200002", "medgen:1801", "icd11.foundation:1580466198", "KEGG.DISEASE:05034", "HP:0030955"], "information_content": 95.4}
{"id": "MONDO:0014328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 19", "equivalent_identifiers": ["MONDO:0014328", "DOID:0080431", "OMIM:615744", "UMLS:C3810400", "NCIT:C142802", "medgen:816730"], "information_content": 100.0}
{"id": "HP:0006813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal hemiclonic seizure", "equivalent_identifiers": ["HP:0006813", "UMLS:C1846620", "MEDDRA:10089248"], "information_content": 92.8}
{"id": "HP:0002373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Febrile Seizure", "equivalent_identifiers": ["HP:0002373", "NCIT:C116503", "UMLS:C0009952", "MEDDRA:10010908", "MEDDRA:10016284", "MEDDRA:10016285", "MEDDRA:10016287", "MEDDRA:10016290", "MEDDRA:10016560", "MEDDRA:10037670", "SNOMEDCT:41497008", "MESH:D003294"], "information_content": 78.0}
{"id": "MONDO:0006710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex partial epilepsy", "equivalent_identifiers": ["MONDO:0006710", "DOID:12382", "EFO:1000877", "UMLS:C0085417", "UMLS:C0149958", "UMLS:C0270834", "MESH:D017029", "MEDDRA:10010145", "MEDDRA:10034057", "MEDDRA:10034090", "MEDDRA:10037209", "MEDDRA:10083379", "NCIT:C155290", "SNOMEDCT:407675009", "SNOMEDCT:4103001", "medgen:43169", "HP:0002384"], "information_content": 71.8}
{"id": "HP:0002121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence Seizure", "equivalent_identifiers": ["HP:0002121", "NCIT:C50436", "UMLS:C4316903", "MEDDRA:10000331", "MEDDRA:10000332", "MEDDRA:10010912", "MEDDRA:10034758"], "information_content": 86.3}
{"id": "HP:0010819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atonic seizure", "equivalent_identifiers": ["HP:0010819", "UMLS:C0270846", "UMLS:C1836509", "UMLS:C4476550", "MEDDRA:10003628", "MEDDRA:10049597", "MEDDRA:10071377", "SNOMEDCT:189198006", "SNOMEDCT:42365007"], "information_content": 89.4}
{"id": "HP:0010852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with photoparoxysmal response", "equivalent_identifiers": ["HP:0010852", "UMLS:C3552821", "MEDDRA:10077475"], "information_content": 89.4}
{"id": "HP:0010850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with spike-wave complexes", "equivalent_identifiers": ["HP:0010850", "UMLS:C4023683"], "information_content": 88.2}
{"id": "MONDO:0010187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1", "equivalent_identifiers": ["MONDO:0010187", "DOID:0112173", "OMIM:277450", "UMLS:C1848534", "MESH:C564741", "SNOMEDCT:724356003", "medgen:376381"], "information_content": 100.0}
{"id": "MONDO:0013792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracerebral hemorrhage", "equivalent_identifiers": ["MONDO:0013792", "EFO:0005669", "EFO:0020921", "UMLS:C0472369", "UMLS:C0553692", "UMLS:C2937358", "UMLS:C5234922", "MESH:D000083302", "MESH:D002543", "MEDDRA:10008111", "MEDDRA:10008114", "MEDDRA:10018972", "MEDDRA:10019005", "MEDDRA:10019016", "MEDDRA:10019529", "MEDDRA:10019531", "MEDDRA:10019551", "MEDDRA:10022737", "MEDDRA:10022751", "MEDDRA:10022753", "MEDDRA:10022754", "MEDDRA:10048863", "MEDDRA:10055278", "MEDDRA:10055293", "MEDDRA:10055800", "MEDDRA:10055815", "MEDDRA:10071793", "MEDDRA:10077620", "MEDDRA:10077622", "MEDDRA:10089379", "NCIT:C50485", "NCIT:C95803", "SNOMEDCT:230706003", "SNOMEDCT:274100004", "medgen:423648", "HP:0001342"], "information_content": 82.1}
{"id": "MONDO:0019145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary thrombophilia due to congenital protein C deficiency", "equivalent_identifiers": ["MONDO:0019145", "DOID:3756", "orphanet:745", "EFO:0009316", "UMLS:C0398625", "UMLS:C0598221", "UMLS:C2930896", "MESH:C535424", "MESH:D020151", "MEDDRA:10051298", "NCIT:C99025", "SNOMEDCT:439274008", "SNOMEDCT:76407009", "medgen:671121", "icd11.foundation:2021932081", "HP:0005543"], "information_content": 92.8}
{"id": "HP:0011858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced factor IX activity", "equivalent_identifiers": ["HP:0011858", "UMLS:C4023159"], "information_content": 90.9}
{"id": "MONDO:0019701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia punctata", "equivalent_identifiers": ["MONDO:0019701", "DOID:2581", "orphanet:93442", "UMLS:C0008445", "UMLS:C1859126", "MESH:D002806", "MEDDRA:10087150", "NCIT:C84632", "SNOMEDCT:278715001", "SNOMEDCT:360507004", "medgen:3052", "icd11.foundation:1923035846", "HP:0010655"], "information_content": 73.9}
{"id": "MONDO:0002247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor X deficiency", "equivalent_identifiers": ["MONDO:0002247", "UMLS:C0015519", "UMLS:C4024702", "MESH:D005171", "MEDDRA:10052474", "NCIT:C131632", "SNOMEDCT:76642003", "medgen:4635", "HP:0008321"], "information_content": 90.9}
{"id": "MONDO:0002244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor VII deficiency", "equivalent_identifiers": ["MONDO:0002244", "UMLS:C0015503", "UMLS:C4024722", "MESH:D005168", "MEDDRA:10016079", "SNOMEDCT:37193007", "medgen:8769", "HP:0008169"], "information_content": 92.8}
{"id": "HP:0002910", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating hepatic transaminase concentration", "equivalent_identifiers": ["HP:0002910", "NCIT:C122516", "UMLS:C0151766", "UMLS:C0235996", "UMLS:C0438237", "UMLS:C0438717", "UMLS:C0877359", "UMLS:C1842003", "UMLS:C1848701", "MEDDRA:10000156", "MEDDRA:10000158", "MEDDRA:10013505", "MEDDRA:10014481", "MEDDRA:10019662", "MEDDRA:10024409", "MEDDRA:10024677", "MEDDRA:10024690", "MEDDRA:10024692", "MEDDRA:10024693", "MEDDRA:10024696", "MEDDRA:10029701", "MEDDRA:10037822", "MEDDRA:10037823", "MEDDRA:10044346", "MEDDRA:10044347", "MEDDRA:10048556", "MEDDRA:10048557", "MEDDRA:10054889", "MEDDRA:10060795", "MEDDRA:10062685", "MEDDRA:10077692", "SNOMEDCT:166603001", "SNOMEDCT:166643006", "SNOMEDCT:863927004"], "information_content": 89.4}
{"id": "MONDO:0002304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "protein S deficiency", "equivalent_identifiers": ["MONDO:0002304", "DOID:2451", "UMLS:C0242666", "UMLS:C4025284", "MESH:D018455", "MEDDRA:10051292", "NCIT:C99026", "SNOMEDCT:1563006", "medgen:69229", "ICD10:D68.59", "HP:0004855"], "information_content": 90.9}
{"id": "MONDO:0014331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moyamoya disease with early-onset achalasia", "equivalent_identifiers": ["MONDO:0014331", "OMIM:615750", "orphanet:401945", "UMLS:C3810403", "UMLS:C4305378", "SNOMEDCT:718551002", "medgen:816733"], "information_content": 100.0}
{"id": "MONDO:0008698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achalasia", "equivalent_identifiers": ["MONDO:0008698", "DOID:9164", "UMLS:C0014848", "UMLS:C2939435", "MESH:D004931", "MEDDRA:10000422", "MEDDRA:10000423", "MEDDRA:10007645", "MEDDRA:10030136", "MEDDRA:10030226", "MEDDRA:10055457", "MEDDRA:10055497", "MEDDRA:10055966", "NCIT:C84699", "SNOMEDCT:235630008", "SNOMEDCT:45564002", "medgen:5023", "icd11.foundation:636464846", "ICD10:K22.0", "ICD9:530.0", "HP:0002571"], "information_content": 92.8}
{"id": "HP:0002197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized-onset seizure", "equivalent_identifiers": ["HP:0002197", "UMLS:C0234533", "UMLS:C1833488", "MEDDRA:10010916", "MEDDRA:10010917", "MEDDRA:10018079", "SNOMEDCT:246545002"], "information_content": 79.3}
{"id": "HP:0002140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ischemic stroke", "equivalent_identifiers": ["HP:0002140", "NCIT:C95802", "UMLS:C0948008", "MEDDRA:10023027", "MEDDRA:10055221", "MEDDRA:10061256", "SNOMEDCT:422504002", "MESH:D000083242"], "information_content": 92.8}
{"id": "MONDO:0008364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Raynaud disease", "equivalent_identifiers": ["MONDO:0008364", "DOID:10300", "OMIM:179600", "EFO:1001145", "UMLS:C0034734", "UMLS:C0034735", "UMLS:C1282916", "MESH:D011928", "MEDDRA:10037910", "MEDDRA:10037912", "MEDDRA:10037914", "MEDDRA:10037917", "NCIT:C116359", "NCIT:C50724", "SNOMEDCT:195295006", "SNOMEDCT:266261006", "SNOMEDCT:356198000", "medgen:20473", "ICD10:I73.0", "HP:0030880"], "information_content": 92.8}
{"id": "HP:0011834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moyamoya phenomenon", "equivalent_identifiers": ["HP:0011834", "UMLS:C4023169"], "information_content": 100.0}
{"id": "MONDO:0044037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "livedo reticularis", "equivalent_identifiers": ["MONDO:0044037", "EFO:1001804", "UMLS:C0085642", "MESH:D054068", "MEDDRA:10024648", "NCIT:C74524", "SNOMEDCT:238772004", "medgen:43223", "HP:0033505"], "information_content": 100.0}
{"id": "HP:0000965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutis marmorata", "equivalent_identifiers": ["HP:0000965", "NCIT:C3923", "UMLS:C0263401", "MEDDRA:10054788", "SNOMEDCT:26825009"], "information_content": 100.0}
{"id": "MONDO:0005044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertension", "equivalent_identifiers": ["MONDO:0005044", "DOID:10763", "EFO:0000537", "UMLS:C0020538", "UMLS:C0497247", "MESH:D006973", "MEDDRA:10003168", "MEDDRA:10003170", "MEDDRA:10005747", "MEDDRA:10005750", "MEDDRA:10005755", "MEDDRA:10006067", "MEDDRA:10014475", "MEDDRA:10020772", "MEDDRA:10020775", "MEDDRA:10020782", "MEDDRA:10021655", "MEDDRA:10036639", "MEDDRA:10036640", "MEDDRA:10037806", "MEDDRA:10037808", "MEDDRA:10039196", "MEDDRA:10039197", "MEDDRA:10057166", "MEDDRA:10081425", "MEDDRA:10088636", "NCIT:C3117", "SNOMEDCT:24184005", "SNOMEDCT:38341003", "medgen:6969", "ICD10:I10", "ICD9:401-405.99", "HP:0000822"], "information_content": 68.7}
{"id": "MONDO:0005362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "impotence", "equivalent_identifiers": ["MONDO:0005362", "DOID:1875", "EFO:0004234", "UMLS:C0242350", "MESH:D007172", "MEDDRA:10015116", "MEDDRA:10015118", "MEDDRA:10021550", "MEDDRA:10021552", "MEDDRA:10025503", "MEDDRA:10052003", "MEDDRA:10061461", "NCIT:C3133", "SNOMEDCT:397803000", "SNOMEDCT:860914002", "medgen:66879", "HP:0000802"], "information_content": 88.2}
{"id": "MONDO:0011562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Parkinson disease 4", "equivalent_identifiers": ["MONDO:0011562", "DOID:0060895", "OMIM:605543", "UMLS:C1854182", "MESH:C565324", "NCIT:C198604", "medgen:381361"], "information_content": 100.0}
{"id": "HP:0000738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hallucinations", "equivalent_identifiers": ["HP:0000738", "NCIT:C37961", "UMLS:C0018524", "UMLS:C0235153", "MEDDRA:10019062", "MEDDRA:10019063", "MEDDRA:10019066", "MEDDRA:10019077", "MEDDRA:10040028", "SNOMEDCT:7011001", "MESH:D006212"], "information_content": 82.6}
{"id": "HP:0011999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paranoia", "equivalent_identifiers": ["HP:0011999", "NCIT:C94546", "UMLS:C1456784", "MEDDRA:10033864", "MEDDRA:10033870", "MEDDRA:10037243", "SNOMEDCT:191667009", "MESH:D010259"], "information_content": 100.0}
{"id": "MONDO:0014439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 11", "equivalent_identifiers": ["MONDO:0014439", "DOID:0110133", "OMIM:615988", "UMLS:C1859569", "MESH:C565920", "medgen:395295"], "information_content": 100.0}
{"id": "HP:0000077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the kidney", "equivalent_identifiers": ["HP:0000077", "UMLS:C0266292", "MEDDRA:10010606", "MEDDRA:10023430", "SNOMEDCT:44513007"], "information_content": 54.4}
{"id": "MONDO:0021003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly", "equivalent_identifiers": ["MONDO:0021003", "DOID:1148", "OMIM:603596", "UMLS:C0152427", "MESH:D017689", "MEDDRA:10028188", "MEDDRA:10036063", "MEDDRA:10036066", "NCIT:C87110", "SNOMEDCT:367506006", "medgen:57774", "ICD10:Q69", "ICD9:755.0", "HP:0010442"], "information_content": 67.0}
{"id": "HP:0000488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinopathy", "equivalent_identifiers": ["HP:0000488"], "information_content": 80.9}
{"id": "MONDO:0007764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Worth syndrome", "equivalent_identifiers": ["MONDO:0007764", "DOID:0080037", "OMIM:144750", "orphanet:2790", "UMLS:C0432273", "MESH:C536748", "SNOMEDCT:254131007", "medgen:140932", "icd11.foundation:1038854228"], "information_content": 100.0}
{"id": "HP:0000002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of body height", "equivalent_identifiers": ["HP:0000002", "UMLS:C4025901"], "information_content": 67.2}
{"id": "HP:0100861", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic vertebral body", "equivalent_identifiers": ["HP:0100861", "UMLS:C1842154", "UMLS:C4021951"], "information_content": 100.0}
{"id": "MONDO:0002185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperostosis", "equivalent_identifiers": ["MONDO:0002185", "DOID:205", "UMLS:C0020492", "MESH:D015576", "MEDDRA:10005973", "MEDDRA:10020698", "NCIT:C34712", "SNOMEDCT:13814009", "SNOMEDCT:203514008", "medgen:9366", "ICD10:M89.3", "HP:0100774"], "information_content": 79.3}
{"id": "HP:0100923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clavicular sclerosis", "equivalent_identifiers": ["HP:0100923", "UMLS:C3554669"], "information_content": 100.0}
{"id": "HP:0001507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Growth abnormality", "equivalent_identifiers": ["HP:0001507", "UMLS:C0262361"], "information_content": 60.2}
{"id": "HP:0006174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpal diaphyseal endosteal sclerosis", "equivalent_identifiers": ["HP:0006174", "UMLS:C1840419"], "information_content": 100.0}
{"id": "HP:0000935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened cortex of long bones", "equivalent_identifiers": ["HP:0000935", "UMLS:C1840418"], "information_content": 84.2}
{"id": "HP:0100789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Torus palatinus", "equivalent_identifiers": ["HP:0100789", "UMLS:C0266981", "UMLS:C0447996", "UMLS:C1840236", "MEDDRA:10052508", "SNOMEDCT:244683008", "SNOMEDCT:46752004", "SNOMEDCT:697945009"], "information_content": 100.0}
{"id": "HP:0008114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metatarsal diaphyseal endosteal sclerosis", "equivalent_identifiers": ["HP:0008114", "UMLS:C1840420"], "information_content": 100.0}
{"id": "HP:0002644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pelvic girdle bone morphology", "equivalent_identifiers": ["HP:0002644", "UMLS:C4020847"], "information_content": 67.6}
{"id": "HP:0004425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat forehead", "equivalent_identifiers": ["HP:0004425", "UMLS:C1857485"], "information_content": 95.4}
{"id": "MONDO:0012528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 4 with or without anosmia", "equivalent_identifiers": ["MONDO:0012528", "DOID:0090077", "OMIM:610628", "UMLS:C1857720", "UMLS:C3552343", "MESH:C565696", "medgen:765257"], "information_content": 100.0}
{"id": "MONDO:0018555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0018555", "DOID:0090070", "OMIM.PS:147950", "orphanet:432", "UMLS:C0271623", "UMLS:C3489396", "MEDDRA:10021012", "MEDDRA:10059594", "NCIT:C113347", "NCIT:C120145", "SNOMEDCT:33927004", "medgen:82883", "HP:0000044"], "information_content": 70.5}
{"id": "HP:0032466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the olfactory bulb", "equivalent_identifiers": ["HP:0032466", "UMLS:C5139362"], "information_content": 100.0}
{"id": "HP:0008197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of pubertal development", "equivalent_identifiers": ["HP:0008197", "UMLS:C1846228"], "information_content": 92.8}
{"id": "HP:0004409", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyposmia", "equivalent_identifiers": ["HP:0004409", "NCIT:C116368", "UMLS:C2364082", "MEDDRA:10050515", "MEDDRA:10064102", "SNOMEDCT:83156004"], "information_content": 90.9}
{"id": "MONDO:0016558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial congenital mirror movements", "equivalent_identifiers": ["MONDO:0016558", "DOID:0111153", "OMIM.PS:157600", "orphanet:238722", "UMLS:C0454455", "UMLS:C5191311", "SNOMEDCT:229247004", "SNOMEDCT:784348007", "medgen:473166", "icd11.foundation:1966778637", "HP:0001335"], "information_content": 88.2}
{"id": "MONDO:0007191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Behcet disease", "equivalent_identifiers": ["MONDO:0007191", "DOID:13241", "OMIM:109650", "orphanet:117", "EFO:0003780", "UMLS:C0004943", "MESH:D001528", "MEDDRA:10004211", "MEDDRA:10004212", "MEDDRA:10004213", "NCIT:C34416", "SNOMEDCT:310701003", "medgen:2568", "icd11.foundation:1668927157", "ICD10:M35.2", "ICD9:136.1"], "information_content": 100.0}
{"id": "MONDO:0001036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopyon", "equivalent_identifiers": ["MONDO:0001036", "DOID:10443", "UMLS:C0020641", "MEDDRA:10021086", "NCIT:C50593", "SNOMEDCT:87807004", "medgen:43802", "icd11.foundation:803985395", "ICD10:H20.05", "ICD9:364.05", "HP:0031615"], "information_content": 95.4}
{"id": "MONDO:0005340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia areata", "equivalent_identifiers": ["MONDO:0005340", "DOID:986", "EFO:0004192", "UMLS:C0002171", "UMLS:C1862862", "MESH:D000506", "MEDDRA:10001761", "SNOMEDCT:68225006", "medgen:213", "icd11.foundation:65720611", "ICD10:L63", "ICD9:704.01", "HP:0002232"], "information_content": 92.8}
{"id": "HP:0000155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral ulcer", "equivalent_identifiers": ["HP:0000155", "NCIT:C27157", "UMLS:C0149745", "MEDDRA:10028033", "MEDDRA:10028034", "MEDDRA:10031027", "MEDDRA:10045319", "MEDDRA:10045349", "MEDDRA:10045352", "MEDDRA:10049318", "SNOMEDCT:26284000", "MESH:D019226"], "information_content": 92.8}
{"id": "MONDO:0006814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iritis", "equivalent_identifiers": ["MONDO:0006814", "DOID:1406", "EFO:1000997", "UMLS:C0022081", "MESH:D007500", "MEDDRA:10022955", "NCIT:C50621", "SNOMEDCT:65074000", "medgen:7160", "HP:0001101"], "information_content": 86.3}
{"id": "MONDO:0004779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epididymitis", "equivalent_identifiers": ["MONDO:0004779", "DOID:9402", "UMLS:C0014534", "MESH:D004823", "MEDDRA:10015000", "MEDDRA:10015003", "NCIT:C12328", "SNOMEDCT:31070006", "medgen:4986", "ICD10:N45.1", "HP:0000031"], "information_content": 79.9}
{"id": "MONDO:0004773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iridocyclitis", "equivalent_identifiers": ["MONDO:0004773", "DOID:9383", "UMLS:C0007832", "UMLS:C0022073", "UMLS:C0154909", "MESH:D015863", "MEDDRA:10022941", "MEDDRA:10036702", "MEDDRA:10045985", "NCIT:C34736", "SNOMEDCT:12630008", "SNOMEDCT:77971008", "medgen:43961", "ICD10:H20.01", "ICD9:364.01", "ICD9:364.2", "HP:0001094"], "information_content": 87.2}
{"id": "HP:0410060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of D-mannose in urine", "equivalent_identifiers": ["HP:0410060", "UMLS:C4703626"], "information_content": 100.0}
{"id": "MONDO:0850231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema nodosum", "equivalent_identifiers": ["MONDO:0850231", "DOID:0080750", "UMLS:C0014743", "MESH:D004893", "MEDDRA:10015226", "SNOMEDCT:32861005", "medgen:41858", "icd11.foundation:1628519266", "HP:0012219"], "information_content": 95.4}
{"id": "MONDO:0004674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorioretinitis", "equivalent_identifiers": ["MONDO:0004674", "DOID:8886", "UMLS:C0008513", "MESH:D002825", "MEDDRA:10008769", "MEDDRA:10008771", "MEDDRA:10086282", "NCIT:C110923", "SNOMEDCT:46627006", "medgen:942", "ICD9:363.20", "HP:0012424"], "information_content": 85.5}
{"id": "HP:0002638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superficial thrombophlebitis", "equivalent_identifiers": ["HP:0002638", "NCIT:C78634", "UMLS:C0750876", "UMLS:C1510431", "MEDDRA:10034902", "MEDDRA:10042554", "MEDDRA:10043595", "SNOMEDCT:2477008"], "information_content": 100.0}
{"id": "MONDO:0005578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthritis", "equivalent_identifiers": ["MONDO:0005578", "DOID:848", "EFO:0005856", "UMLS:C0003864", "UMLS:C0574941", "MESH:D001168", "MEDDRA:10003246", "MEDDRA:10003263", "MEDDRA:10023217", "MEDDRA:10081014", "NCIT:C2883", "SNOMEDCT:298160000", "SNOMEDCT:3723001", "medgen:2043", "ICD10:M19.90", "HP:0001369"], "information_content": 70.4}
{"id": "HP:0003249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genital ulcers", "equivalent_identifiers": ["HP:0003249", "UMLS:C0151281", "MEDDRA:10018180", "MEDDRA:10018181"], "information_content": 89.4}
{"id": "MONDO:0011830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 1", "equivalent_identifiers": ["MONDO:0011830", "DOID:0112237", "OMIM:607432", "orphanet:95232", "UMLS:C4749301", "SNOMEDCT:770560008", "medgen:1657090"], "information_content": 100.0}
{"id": "HP:0031882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agyria", "equivalent_identifiers": ["HP:0031882"], "information_content": 100.0}
{"id": "HP:0012520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilation of Virchow-Robin spaces", "equivalent_identifiers": ["HP:0012520", "UMLS:C1853618", "UMLS:C4020719"], "information_content": 100.0}
{"id": "MONDO:0018838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly", "equivalent_identifiers": ["MONDO:0018838", "DOID:0050453", "OMIM.PS:607432", "orphanet:48471", "UMLS:C0266463", "UMLS:C1879312", "MESH:D054082", "MEDDRA:10048911", "MEDDRA:10048915", "NCIT:C103921", "SNOMEDCT:204036008", "medgen:78604", "ICD10:Q04.3", "HP:0001339"], "information_content": 72.5}
{"id": "HP:0002500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leukoaraiosis", "equivalent_identifiers": ["HP:0002500", "UMLS:C0948163", "UMLS:C4020851", "MEDDRA:10051765", "MESH:D049292"], "information_content": 68.4}
{"id": "MONDO:0032793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "O'Donnell-Luria-Rodan syndrome", "equivalent_identifiers": ["MONDO:0032793", "OMIM:618512", "EFO:0010277", "UMLS:C5193138", "MESH:C000730747", "medgen:1677602"], "information_content": 100.0}
{"id": "HP:0001273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal corpus callosum morphology", "equivalent_identifiers": ["HP:0001273", "UMLS:C1842581"], "information_content": 76.4}
{"id": "HP:0012448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed myelination", "equivalent_identifiers": ["HP:0012448", "UMLS:C1277241", "MEDDRA:10076456", "SNOMEDCT:135810007"], "information_content": 92.8}
{"id": "HP:0006579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged neonatal jaundice", "equivalent_identifiers": ["HP:0006579", "EFO:1000739", "NCIT:C99246", "UMLS:C0022353", "UMLS:C1859236", "MEDDRA:10021210", "MEDDRA:10023137", "MEDDRA:10023138", "MEDDRA:10023141", "MEDDRA:10028953", "SNOMEDCT:387712008", "MESH:D007567"], "information_content": 100.0}
{"id": "HP:0012166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin-picking", "equivalent_identifiers": ["HP:0012166", "UMLS:C1696701", "MEDDRA:10065272", "MEDDRA:10065701", "MESH:D000096705"], "information_content": 100.0}
{"id": "HP:0001999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal facial shape", "equivalent_identifiers": ["HP:0001999", "UMLS:C0265543", "UMLS:C0266617", "UMLS:C0424503", "UMLS:C1385263", "UMLS:C4072832", "UMLS:C4072833", "MEDDRA:10016027", "MEDDRA:10016028", "MEDDRA:10016045", "SNOMEDCT:248200007", "SNOMEDCT:32003007", "SNOMEDCT:398206004", "SNOMEDCT:398302004"], "information_content": 69.7}
{"id": "HP:0100716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Self-injurious behavior", "equivalent_identifiers": ["HP:0100716", "UMLS:C0085271", "SNOMEDCT:248062006"], "information_content": 82.1}
{"id": "MONDO:0013693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory skin and bowel disease, neonatal, 1", "equivalent_identifiers": ["MONDO:0013693", "OMIM:614328", "UMLS:C3280501", "medgen:482131"], "information_content": 100.0}
{"id": "MONDO:0007817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgE responsiveness, atopic", "equivalent_identifiers": ["MONDO:0007817", "OMIM:147050", "UMLS:C0020523", "UMLS:C0236175", "UMLS:C1840253", "UMLS:C1840254", "MESH:C564133", "MESH:D006969", "MEDDRA:10020762", "MEDDRA:10020763", "MEDDRA:10021257", "MEDDRA:10021267", "MEDDRA:10021413", "MEDDRA:10021414", "MEDDRA:10021480", "MEDDRA:10021481", "MEDDRA:10045240", "NCIT:C3116", "SNOMEDCT:422076005", "medgen:327063", "HP:0003212"], "information_content": 89.4}
{"id": "HP:0200039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pustule", "equivalent_identifiers": ["HP:0200039", "NCIT:C78582", "UMLS:C0241157", "UMLS:C0542346", "MEDDRA:10035048", "MEDDRA:10035049", "MEDDRA:10037578", "SNOMEDCT:103605005", "SNOMEDCT:271760008", "SNOMEDCT:285305004", "SNOMEDCT:47002008"], "information_content": 95.4}
{"id": "HP:0025085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bloody diarrhea", "equivalent_identifiers": ["HP:0025085", "NCIT:C113391", "UMLS:C0151594", "UMLS:C1321898", "MEDDRA:10005603", "MEDDRA:10005805", "MEDDRA:10005872", "MEDDRA:10005873", "MEDDRA:10012729", "MEDDRA:10012738", "MEDDRA:10012741", "MEDDRA:10019007", "MEDDRA:10019600", "MEDDRA:10042144", "MEDDRA:10055957", "MEDDRA:10060536", "SNOMEDCT:95545007"], "information_content": 84.8}
{"id": "MONDO:0004627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenitis", "equivalent_identifiers": ["MONDO:0004627", "DOID:8643", "UMLS:C0013298", "MESH:D004382", "MEDDRA:10013864", "NCIT:C94409", "SNOMEDCT:72007001", "medgen:4419", "icd11.foundation:1595026136", "ICD10:K29.8", "ICD9:535.6", "HP:0033117"], "information_content": 90.9}
{"id": "HP:0033194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perioral erythema", "equivalent_identifiers": ["HP:0033194", "UMLS:C1855458"], "information_content": 100.0}
{"id": "HP:0033195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perianal erythema", "equivalent_identifiers": ["HP:0033195", "UMLS:C1112161", "MEDDRA:10056273"], "information_content": 100.0}
{"id": "HP:0001805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychogryphosis", "equivalent_identifiers": ["HP:0001805", "UMLS:C0263537", "MEDDRA:10030336", "MEDDRA:10089036", "SNOMEDCT:52897009"], "information_content": 90.9}
{"id": "HP:0011473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Villous atrophy", "equivalent_identifiers": ["HP:0011473", "NCIT:C38731", "UMLS:C0267456", "UMLS:C0554101", "UMLS:C1833058", "UMLS:C1859541", "UMLS:C2677378", "UMLS:C4020747", "SNOMEDCT:275403002", "SNOMEDCT:75581001"], "information_content": 92.8}
{"id": "MONDO:0005898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paronychia", "equivalent_identifiers": ["MONDO:0005898", "DOID:13117", "EFO:0007421", "UMLS:C0030578", "MESH:D010304", "MEDDRA:10034016", "MEDDRA:10064088", "NCIT:C79702", "SNOMEDCT:71906005", "medgen:45334", "ICD10:L03.0", "HP:0001818"], "information_content": 95.4}
{"id": "MONDO:0004785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharitis", "equivalent_identifiers": ["MONDO:0004785", "DOID:9423", "EFO:0009536", "UMLS:C0005741", "UMLS:C0155181", "UMLS:C0339063", "UMLS:C0686366", "MESH:D001762", "MEDDRA:10005148", "MEDDRA:10005150", "MEDDRA:10007908", "MEDDRA:10021962", "MEDDRA:10045959", "MEDDRA:10070247", "NCIT:C112183", "SNOMEDCT:1231722004", "SNOMEDCT:231796003", "SNOMEDCT:41446000", "medgen:598", "ICD10:H01.0", "ICD9:373.0", "ICD9:373.4", "HP:0000498"], "information_content": 80.9}
{"id": "MONDO:0004795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otitis externa", "equivalent_identifiers": ["MONDO:0004795", "DOID:9463", "EFO:0009560", "UMLS:C0021355", "UMLS:C0029878", "MESH:D010032", "MEDDRA:10021919", "MEDDRA:10021920", "MEDDRA:10033072", "MEDDRA:10052558", "MEDDRA:10065837", "MEDDRA:10082612", "NCIT:C3299", "NCIT:C79601", "SNOMEDCT:3135009", "SNOMEDCT:86981007", "medgen:10505", "icd11.foundation:1303990434", "ICD9:380.1", "HP:0410017"], "information_content": 84.8}
{"id": "MONDO:0009856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peters plus syndrome", "equivalent_identifiers": ["MONDO:0009856", "DOID:0080201", "OMIM:261540", "orphanet:709", "UMLS:C0796012", "MESH:C537617", "NCIT:C123436", "SNOMEDCT:449817000", "medgen:163204"], "information_content": 100.0}
{"id": "HP:0004325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underweight", "equivalent_identifiers": ["HP:0004325", "UMLS:C0041667", "UMLS:C1844806", "UMLS:C5574742", "MEDDRA:10047893", "MEDDRA:10047895", "MEDDRA:10048733", "MEDDRA:10048828", "SNOMEDCT:248342006"], "information_content": 69.3}
{"id": "HP:0010049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short metacarpal", "equivalent_identifiers": ["HP:0010049", "UMLS:C1837084"], "information_content": 84.8}
{"id": "HP:0001169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad palm", "equivalent_identifiers": ["HP:0001169", "UMLS:C0264142", "SNOMEDCT:48251003"], "information_content": 100.0}
{"id": "MONDO:0015843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine hypoplasia", "equivalent_identifiers": ["MONDO:0015843", "orphanet:180139", "UMLS:C0266399", "MEDDRA:10063146", "SNOMEDCT:35850006", "medgen:120575", "icd11.foundation:1858530341", "HP:0000013"], "information_content": 95.4}
{"id": "MONDO:0021004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly", "equivalent_identifiers": ["MONDO:0021004", "DOID:0050581", "UMLS:C0221357", "MESH:D059327", "MEDDRA:10072883", "SNOMEDCT:43476002", "medgen:67454", "icd11.foundation:598200019", "HP:0001156"], "information_content": 74.2}
{"id": "MONDO:0009022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corpus callosum, agenesis of", "equivalent_identifiers": ["MONDO:0009022", "OMIM:217990", "orphanet:200", "UMLS:C0175754", "MESH:D061085", "MEDDRA:10063756", "NCIT:C98905", "SNOMEDCT:5102002", "medgen:104498", "HP:0001274"], "information_content": 89.4}
{"id": "HP:0000060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clitoral hypoplasia", "equivalent_identifiers": ["HP:0000060", "UMLS:C1844527"], "information_content": 95.4}
{"id": "HP:0008873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disproportionate short-limb short stature", "equivalent_identifiers": ["HP:0008873", "UMLS:C1849937"], "information_content": 79.0}
{"id": "HP:0002996", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited elbow movement", "equivalent_identifiers": ["HP:0002996", "UMLS:C1849955"], "information_content": 86.3}
{"id": "HP:0000233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin lips", "equivalent_identifiers": ["HP:0000233", "UMLS:C0578038", "SNOMEDCT:301348000"], "information_content": 88.2}
{"id": "HP:0000073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double ureter", "equivalent_identifiers": ["HP:0000073", "NCIT:C98917", "UMLS:C0221365", "MEDDRA:10013613", "MEDDRA:10013871", "MEDDRA:10046380", "SNOMEDCT:49496001"], "information_content": 88.2}
{"id": "HP:0001831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short toe", "equivalent_identifiers": ["HP:0001831", "UMLS:C1836195"], "information_content": 76.9}
{"id": "HP:0008726", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the vagina", "equivalent_identifiers": ["HP:0008726", "NCIT:C35415", "UMLS:C0345309", "UMLS:C1442988", "MEDDRA:10053843", "SNOMEDCT:253836009"], "information_content": 95.4}
{"id": "HP:0000200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short lingual frenulum", "equivalent_identifiers": ["HP:0000200", "UMLS:C0426501", "UMLS:C4280673", "SNOMEDCT:249388005"], "information_content": 100.0}
{"id": "HP:0003278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Square pelvis bone", "equivalent_identifiers": ["HP:0003278", "UMLS:C1849953"], "information_content": 95.4}
{"id": "HP:0011065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conical incisor", "equivalent_identifiers": ["HP:0011065", "UMLS:C1856136", "UMLS:C4020759", "UMLS:C4280341", "UMLS:C4280342"], "information_content": 89.4}
{"id": "HP:0005608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilobate gallbladder", "equivalent_identifiers": ["HP:0005608", "UMLS:C1846422"], "information_content": 100.0}
{"id": "HP:0002219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial hypertrichosis", "equivalent_identifiers": ["HP:0002219", "UMLS:C1851400", "MESH:C565029"], "information_content": 88.2}
{"id": "HP:0001540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diastasis recti", "equivalent_identifiers": ["HP:0001540", "UMLS:C0221766", "MEDDRA:10073169", "MEDDRA:10073195", "SNOMEDCT:62629000"], "information_content": 100.0}
{"id": "HP:0003561", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birth length less than 3rd percentile", "equivalent_identifiers": ["HP:0003561", "UMLS:C1855650"], "information_content": 100.0}
{"id": "HP:0000690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of maxillary lateral incisor", "equivalent_identifiers": ["HP:0000690", "UMLS:C1849950", "UMLS:C4083046"], "information_content": 92.8}
{"id": "HP:0100336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral cleft lip", "equivalent_identifiers": ["HP:0100336", "UMLS:C0392005", "SNOMEDCT:304068004"], "information_content": 89.4}
{"id": "HP:0008569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Snail ear", "equivalent_identifiers": ["HP:0008569", "UMLS:C4020694", "UMLS:C4020792", "UMLS:C4020793", "UMLS:C4020794", "UMLS:C4020795", "UMLS:C4020796", "UMLS:C4020797"], "information_content": 100.0}
{"id": "HP:0000687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely spaced teeth", "equivalent_identifiers": ["HP:0000687", "UMLS:C1844813"], "information_content": 95.4}
{"id": "MONDO:0011414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peters anomaly", "equivalent_identifiers": ["MONDO:0011414", "DOID:0060673", "DOID:0080610", "OMIM:604229", "orphanet:708", "UMLS:C0344559", "UMLS:C4310809", "MESH:C537884", "MEDDRA:10059202", "SNOMEDCT:204153003", "medgen:91031", "icd11.foundation:1902926622", "HP:0000659"], "information_content": 92.8}
{"id": "MONDO:0015469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis", "equivalent_identifiers": ["MONDO:0015469", "DOID:2340", "OMIM.PS:123100", "orphanet:1531", "UMLS:C0010278", "UMLS:C4759713", "MESH:D003398", "MEDDRA:10025530", "MEDDRA:10040963", "MEDDRA:10049889", "MEDDRA:10062348", "NCIT:C84655", "medgen:1163", "icd11.foundation:458033798", "ICD10:Q75.0", "HP:0001363"], "information_content": 69.0}
{"id": "MONDO:0004868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary tract disorder", "equivalent_identifiers": ["MONDO:0004868", "DOID:9741", "EFO:0009534", "UMLS:C0005424", "UMLS:C0549613", "MESH:D001660", "MEDDRA:10004676", "MEDDRA:10004677", "MEDDRA:10045772", "MEDDRA:10061008", "SNOMEDCT:105997008", "medgen:108201", "ICD10:K83.9", "ICD9:576.9", "HP:0001080"], "information_content": 66.7}
{"id": "MONDO:0007206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone pain, periodic", "equivalent_identifiers": ["MONDO:0007206", "OMIM:112270", "UMLS:C1862176", "medgen:350612"], "information_content": 100.0}
{"id": "HP:0002653", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone pain", "equivalent_identifiers": ["HP:0002653", "NCIT:C38644", "UMLS:C0151825", "MEDDRA:10006002", "MEDDRA:10033384", "MEDDRA:10040777", "MEDDRA:10070685", "MEDDRA:10076740", "SNOMEDCT:12584003"], "information_content": 71.7}
{"id": "MONDO:0008501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sturge-Weber syndrome", "equivalent_identifiers": ["MONDO:0008501", "DOID:0111563", "DOID:3852", "OMIM:175200", "OMIM:185300", "orphanet:3205", "UMLS:C0031269", "UMLS:C0038505", "UMLS:C0265323", "MESH:D010580", "MESH:D013341", "MEDDRA:10034764", "MEDDRA:10042265", "MEDDRA:10057349", "MEDDRA:10057653", "MEDDRA:10057661", "NCIT:C3324", "NCIT:C3391", "NCIT:C7755", "SNOMEDCT:19886006", "SNOMEDCT:53633000", "SNOMEDCT:54411001", "medgen:21361", "icd11.foundation:1173035836", "ICD10:Q85.89"], "information_content": 82.6}
{"id": "HP:0001034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermelanotic macule", "equivalent_identifiers": ["HP:0001034", "UMLS:C1842774"], "information_content": 86.3}
{"id": "MONDO:0001356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iron deficiency anemia", "equivalent_identifiers": ["MONDO:0001356", "DOID:11758", "UMLS:C0008272", "UMLS:C0029810", "UMLS:C0162316", "MESH:D018798", "MEDDRA:10002062", "MEDDRA:10002295", "MEDDRA:10022972", "MEDDRA:10022974", "MEDDRA:10022977", "MEDDRA:10053783", "MEDDRA:10053784", "MEDDRA:10055738", "MEDDRA:10064647", "MEDDRA:10064648", "MEDDRA:10071378", "MEDDRA:10071379", "NCIT:C84484", "SNOMEDCT:87522002", "medgen:57668", "ICD9:280.8", "HP:0001891"], "information_content": 100.0}
{"id": "HP:0002584", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intestinal bleeding", "equivalent_identifiers": ["HP:0002584", "UMLS:C0267373", "MEDDRA:10022653", "MEDDRA:10059175", "MEDDRA:10059178", "MEDDRA:10071824", "SNOMEDCT:712510007"], "information_content": 95.4}
{"id": "HP:0032454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Labial melanotic macule", "equivalent_identifiers": ["HP:0032454", "UMLS:C5229936", "SNOMEDCT:788631003"], "information_content": 100.0}
{"id": "MONDO:0021353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tumor of uterus", "equivalent_identifiers": ["MONDO:0021353", "EFO:0003859", "UMLS:C0042138", "MEDDRA:10029102", "MEDDRA:10046803", "MEDDRA:10046804", "MEDDRA:10046805", "NCIT:C3435", "SNOMEDCT:126908007", "medgen:12030", "HP:0010784"], "information_content": 56.2}
{"id": "MONDO:0021040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic neoplasm", "equivalent_identifiers": ["MONDO:0021040", "EFO:0003860", "UMLS:C0030297", "UMLS:C0346647", "UMLS:C1842408", "MESH:D010190", "MEDDRA:10026313", "MEDDRA:10026318", "MEDDRA:10033575", "MEDDRA:10033589", "MEDDRA:10033604", "MEDDRA:10033632", "MEDDRA:10049099", "MEDDRA:10050255", "MEDDRA:10061902", "NCIT:C3305", "SNOMEDCT:126859007", "SNOMEDCT:363418001", "medgen:18279", "HP:0002894"], "information_content": 63.3}
{"id": "MONDO:0007835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intussusception", "equivalent_identifiers": ["MONDO:0007835", "DOID:8446", "OMIM:147710", "UMLS:C0021933", "MESH:D007443", "MEDDRA:10022863", "MEDDRA:10022875", "NCIT:C113484", "SNOMEDCT:35327006", "SNOMEDCT:49723003", "medgen:43940", "ICD10:K56.1", "ICD9:560.0", "HP:0002576"], "information_content": 95.4}
{"id": "MONDO:0006181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digestive system carcinoma", "equivalent_identifiers": ["MONDO:0006181", "DOID:0050922", "EFO:1000218", "UMLS:C0151544", "MEDDRA:10007351", "MEDDRA:10017940", "NCIT:C96963", "medgen:57467", "HP:0002672"], "information_content": 51.3}
{"id": "MONDO:0004989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast carcinoma", "equivalent_identifiers": ["MONDO:0004989", "DOID:3459", "EFO:0000305", "UMLS:C0678222", "MEDDRA:10006204", "MEDDRA:10006206", "MEDDRA:10007305", "NCIT:C4872", "SNOMEDCT:254838004", "medgen:146260", "HP:0003002"], "information_content": 58.2}
{"id": "MONDO:0004754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectal prolapse", "equivalent_identifiers": ["MONDO:0004754", "DOID:9307", "UMLS:C0034888", "MESH:D012005", "MEDDRA:10038077", "NCIT:C34973", "SNOMEDCT:57773001", "medgen:11151", "icd11.foundation:231914102", "ICD10:K62.3", "ICD9:569.1", "HP:0002035"], "information_content": 92.8}
{"id": "MONDO:0001571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gynecomastia", "equivalent_identifiers": ["MONDO:0001571", "DOID:12698", "UMLS:C0018418", "MESH:D006177", "MEDDRA:10006244", "MEDDRA:10014844", "MEDDRA:10018800", "MEDDRA:10018801", "NCIT:C3073", "SNOMEDCT:4754008", "medgen:6694", "HP:0000771"], "information_content": 83.6}
{"id": "MONDO:0008277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stomach polyp", "equivalent_identifiers": ["MONDO:0008277", "UMLS:C0236048", "MESH:C562464", "MEDDRA:10017817", "MEDDRA:10036136", "NCIT:C3954", "SNOMEDCT:78809005", "SNOMEDCT:87252009", "medgen:68629", "HP:0004394"], "information_content": 80.2}
{"id": "MONDO:0006314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal Polyp", "equivalent_identifiers": ["MONDO:0006314", "EFO:1000391", "UMLS:C0027430", "MESH:D009298", "MEDDRA:10028754", "MEDDRA:10028756", "MEDDRA:10036128", "MEDDRA:10036138", "MEDDRA:10046043", "NCIT:C3256", "SNOMEDCT:52756005", "SNOMEDCT:736500007", "medgen:6524", "HP:0100582"], "information_content": 100.0}
{"id": "MONDO:0006231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastrointestinal hamartoma", "equivalent_identifiers": ["MONDO:0006231", "EFO:1000280", "UMLS:C0334092", "UMLS:C3272802", "UMLS:C3277418", "NCIT:C8372", "NCIT:C96475", "SNOMEDCT:27391005", "medgen:474435", "HP:0004390"], "information_content": 78.0}
{"id": "HP:0031261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bladder polyp", "equivalent_identifiers": ["HP:0031261", "UMLS:C0586737", "MEDDRA:10049794", "MEDDRA:10079512", "SNOMEDCT:309248004"], "information_content": 100.0}
{"id": "HP:0100759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clubbed Fingers", "equivalent_identifiers": ["HP:0100759", "NCIT:C34491", "UMLS:C0009080", "MEDDRA:10009692", "MEDDRA:10016680", "MEDDRA:10090112", "SNOMEDCT:30760008"], "information_content": 100.0}
{"id": "HP:0034352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bile duct polyp", "equivalent_identifiers": ["HP:0034352", "UMLS:C5706185"], "information_content": 100.0}
{"id": "HP:0032451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral melanotic macule", "equivalent_identifiers": ["HP:0032451", "UMLS:C5139352"], "information_content": 100.0}
{"id": "HP:0001217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clubbing", "equivalent_identifiers": ["HP:0001217", "NCIT:C85489", "UMLS:C0149651", "MEDDRA:10009690", "MEDDRA:10009691", "MEDDRA:10090113", "SNOMEDCT:367004"], "information_content": 92.8}
{"id": "HP:0008204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Precocious puberty with Sertoli cell tumor", "equivalent_identifiers": ["HP:0008204", "UMLS:C1868007"], "information_content": 100.0}
{"id": "HP:0000069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the ureter", "equivalent_identifiers": ["HP:0000069", "UMLS:C1840382"], "information_content": 72.5}
{"id": "MONDO:0859293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment", "equivalent_identifiers": ["MONDO:0859293", "OMIM:620066", "UMLS:C5774225", "medgen:1823998"], "information_content": 100.0}
{"id": "HP:0002069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral tonic-clonic seizure", "equivalent_identifiers": ["HP:0002069", "NCIT:C50574", "UMLS:C0494475", "MEDDRA:10018100", "MEDDRA:10018101", "MEDDRA:10018661", "MEDDRA:10018662", "MEDDRA:10018663", "MEDDRA:10039909", "MEDDRA:10044000", "MEDDRA:10062448", "SNOMEDCT:1217136003", "SNOMEDCT:54200006"], "information_content": 80.6}
{"id": "HP:0002283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Global brain atrophy", "equivalent_identifiers": ["HP:0002283", "UMLS:C0241816"], "information_content": 100.0}
{"id": "MONDO:0015275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial atrioventricular canal", "equivalent_identifiers": ["MONDO:0015275", "orphanet:1330", "UMLS:C4023290", "MESH:C536112", "SNOMEDCT:718216009", "medgen:868879", "HP:0011577"], "information_content": 100.0}
{"id": "MONDO:0024523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve disease 1", "equivalent_identifiers": ["MONDO:0024523", "DOID:0080333", "OMIM:109730", "UMLS:C0149630", "UMLS:C3887892", "MESH:D000082882", "MEDDRA:10004552", "NCIT:C128803", "NCIT:C192088", "SNOMEDCT:72352009", "medgen:854610", "HP:0001647"], "information_content": 86.3}
{"id": "HP:0002078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Truncal ataxia", "equivalent_identifiers": ["HP:0002078", "UMLS:C0427190", "SNOMEDCT:250067008"], "information_content": 95.4}
{"id": "HP:0001640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiomegaly", "equivalent_identifiers": ["HP:0001640", "EFO:0002503", "NCIT:C61453", "UMLS:C0018800", "UMLS:C1383860", "MEDDRA:10007572", "MEDDRA:10007632", "MEDDRA:10007634", "MEDDRA:10014846", "MEDDRA:10019278", "MP:0001625", "SNOMEDCT:8186001", "MESH:D006332"], "information_content": 81.7}
{"id": "HP:0005165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortened PR interval", "equivalent_identifiers": ["HP:0005165", "NCIT:C62246", "UMLS:C0520878", "MEDDRA:10014374", "MEDDRA:10036472", "MEDDRA:10036474", "SNOMEDCT:49578007"], "information_content": 100.0}
{"id": "MONDO:0002870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricuspid valve insufficiency", "equivalent_identifiers": ["MONDO:0002870", "DOID:4080", "UMLS:C0040961", "MESH:D014262", "MEDDRA:10044634", "MEDDRA:10044635", "MEDDRA:10044640", "MEDDRA:10049217", "NCIT:C50842", "NCIT:C50843", "SNOMEDCT:111287006", "medgen:11911", "icd11.foundation:770887951", "HP:0005180"], "information_content": 95.4}
{"id": "HP:0006682", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature ventricular contraction", "equivalent_identifiers": ["HP:0006682", "UMLS:C0151636", "UMLS:C4531017", "MEDDRA:10015854", "MEDDRA:10015864", "MEDDRA:10036613", "MEDDRA:10036614", "MEDDRA:10047175", "MEDDRA:10047287", "MEDDRA:10047288", "MEDDRA:10047289", "MEDDRA:10058291", "MEDDRA:10058292", "SNOMEDCT:17338001", "SNOMEDCT:251175005", "MESH:D018879"], "information_content": 90.9}
{"id": "MONDO:0005648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve insufficiency", "equivalent_identifiers": ["MONDO:0005648", "DOID:57", "EFO:0007148", "UMLS:C0003504", "UMLS:C0155568", "MESH:D001022", "MEDDRA:10002898", "MEDDRA:10002904", "MEDDRA:10002915", "MEDDRA:10039045", "MEDDRA:10039046", "MEDDRA:10052839", "NCIT:C197951", "NCIT:C50861", "NCIT:C51223", "SNOMEDCT:60234000", "SNOMEDCT:78031003", "medgen:8153", "icd11.foundation:1548485475", "ICD10:I06.1", "ICD9:395.1", "HP:0001659"], "information_content": 92.8}
{"id": "MONDO:1030008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitral valve insufficiency", "equivalent_identifiers": ["MONDO:1030008", "DOID:11502", "UMLS:C0026266", "UMLS:C0264774", "UMLS:C3551535", "MESH:D008944", "MEDDRA:10027715", "MEDDRA:10027716", "MEDDRA:10027718", "MEDDRA:10027727", "MEDDRA:10074862", "NCIT:C50852", "NCIT:C50888", "SNOMEDCT:194736003", "SNOMEDCT:48724000", "medgen:7670", "icd11.foundation:637470326", "ICD10:Q23.3", "ICD9:396.3", "ICD9:746.6", "HP:0001653"], "information_content": 92.8}
{"id": "MONDO:0010384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypospadias 1, X-linked", "equivalent_identifiers": ["MONDO:0010384", "OMIM:300633", "UMLS:C2678098", "MESH:C567482", "medgen:394735"], "information_content": 100.0}
{"id": "HP:0000051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perineal hypospadias", "equivalent_identifiers": ["HP:0000051", "UMLS:C0452148", "SNOMEDCT:204890004"], "information_content": 100.0}
{"id": "MONDO:0958204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 81", "equivalent_identifiers": ["MONDO:0958204", "OMIM:620700", "UMLS:C5882758", "medgen:1844192"], "information_content": 100.0}
{"id": "HP:0001572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrodontia", "equivalent_identifiers": ["HP:0001572", "UMLS:C0266036", "UMLS:C4280590", "UMLS:C4280591", "UMLS:C4280592", "MEDDRA:10088214", "SNOMEDCT:71485000"], "information_content": 86.3}
{"id": "HP:0012389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Appendicular hypotonia", "equivalent_identifiers": ["HP:0012389", "UMLS:C4022919"], "information_content": 100.0}
{"id": "HP:0008770", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Obsessive-compulsive trait", "equivalent_identifiers": ["HP:0008770", "UMLS:C1834433"], "information_content": 100.0}
{"id": "MONDO:0017560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genu recurvatum", "equivalent_identifiers": ["MONDO:0017560", "orphanet:295229", "UMLS:C0152235", "UMLS:C0546964", "MEDDRA:10018194", "NCIT:C103184", "SNOMEDCT:205063003", "medgen:508941", "icd11.foundation:1709221347", "HP:0002816"], "information_content": 100.0}
{"id": "HP:0002194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed gross motor development", "equivalent_identifiers": ["HP:0002194", "NCIT:C116601", "UMLS:C1837658", "MEDDRA:10069118", "SNOMEDCT:430099007"], "information_content": 87.2}
{"id": "HP:0000189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow palate", "equivalent_identifiers": ["HP:0000189", "UMLS:C1398312"], "information_content": 92.8}
{"id": "HP:0010862", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed fine motor development", "equivalent_identifiers": ["HP:0010862", "UMLS:C4023681"], "information_content": 100.0}
{"id": "HP:0003025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal irregularity", "equivalent_identifiers": ["HP:0003025", "UMLS:C1838662"], "information_content": 83.1}
{"id": "MONDO:0004731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central sleep apnea syndrome", "equivalent_identifiers": ["MONDO:0004731", "DOID:9220", "OMIM:107640", "UMLS:C0520680", "UMLS:C3887547", "MESH:D020182", "MEDDRA:10007975", "MEDDRA:10055576", "NCIT:C116046", "NCIT:C27169", "SNOMEDCT:27405005", "medgen:854402", "HP:0010536"], "information_content": 88.2}
{"id": "HP:0001238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender finger", "equivalent_identifiers": ["HP:0001238", "UMLS:C1857482"], "information_content": 95.4}
{"id": "MONDO:0010259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 24", "equivalent_identifiers": ["MONDO:0010259", "DOID:0110416", "OMIM:300155", "UMLS:C3887982", "medgen:854690"], "information_content": 100.0}
{"id": "MONDO:0000455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone dystrophy", "equivalent_identifiers": ["MONDO:0000455", "DOID:0050795", "orphanet:1871", "UMLS:C0730290", "UMLS:C3665342", "MESH:D000077765", "MEDDRA:10083940", "SNOMEDCT:312917007", "medgen:676499", "HP:0008020"], "information_content": 86.3}
{"id": "MONDO:0014422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesicoureteral reflux 8", "equivalent_identifiers": ["MONDO:0014422", "OMIM:615963", "UMLS:C4014831", "medgen:863268"], "information_content": 100.0}
{"id": "HP:0000010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent urinary tract infections", "equivalent_identifiers": ["HP:0000010", "UMLS:C0262655", "MEDDRA:10038140", "MEDDRA:10038141", "SNOMEDCT:197927001"], "information_content": 92.8}
{"id": "HP:0000081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplicated collecting system", "equivalent_identifiers": ["HP:0000081", "UMLS:C1858565"], "information_content": 100.0}
{"id": "MONDO:0958228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 122", "equivalent_identifiers": ["MONDO:0958228", "OMIM:620714", "UMLS:C5935576", "medgen:1853544"], "information_content": 100.0}
{"id": "MONDO:0031071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 21", "equivalent_identifiers": ["MONDO:0031071", "OMIM:620072", "UMLS:C5774230", "medgen:1824003"], "information_content": 100.0}
{"id": "HP:0012133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythroid hypoplasia", "equivalent_identifiers": ["HP:0012133", "UMLS:C0542035", "MEDDRA:10021072"], "information_content": 92.8}
{"id": "HP:0001822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hallux valgus", "equivalent_identifiers": ["HP:0001822", "NCIT:C34658", "UMLS:C0006386", "UMLS:C0018536", "MEDDRA:10006585", "MEDDRA:10019093", "SNOMEDCT:122480009", "SNOMEDCT:415692008", "MESH:D000071378", "MESH:D006215"], "information_content": 90.9}
{"id": "HP:0007687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral ptosis", "equivalent_identifiers": ["HP:0007687", "UMLS:C1866806"], "information_content": 100.0}
{"id": "MONDO:0005073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevus", "equivalent_identifiers": ["MONDO:0005073", "EFO:0009675", "UMLS:C0027960", "UMLS:C0027962", "MESH:D009506", "MESH:D009508", "MEDDRA:10027145", "MEDDRA:10027806", "MEDDRA:10028677", "MEDDRA:10028678", "MEDDRA:10028679", "MEDDRA:10029384", "MEDDRA:10029385", "MEDDRA:10035031", "MEDDRA:10062797", "MEDDRA:10062799", "MEDDRA:10073897", "NCIT:C7570", "SNOMEDCT:400096001", "SNOMEDCT:51697005", "medgen:14364", "HP:0003764"], "information_content": 70.9}
{"id": "HP:0040023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the thumb", "equivalent_identifiers": ["HP:0040023", "UMLS:C1856888", "UMLS:C4280297"], "information_content": 100.0}
{"id": "HP:0000349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widow's peak", "equivalent_identifiers": ["HP:0000349", "UMLS:C1853486"], "information_content": 100.0}
{"id": "MONDO:0002629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteosarcoma", "equivalent_identifiers": ["MONDO:0002629", "DOID:3376", "OMIM:259500", "orphanet:668", "UMLS:C0029463", "UMLS:C0585442", "MEDDRA:10031244", "MEDDRA:10031291", "MEDDRA:10031295", "MEDDRA:10039496", "NCIT:C53707", "NCIT:C9145", "SNOMEDCT:1163405004", "SNOMEDCT:189878003", "SNOMEDCT:21708004", "SNOMEDCT:307576001", "medgen:108437", "HP:0002669"], "information_content": 69.9}
{"id": "HP:0002208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coarse hair", "equivalent_identifiers": ["HP:0002208", "UMLS:C0277959", "UMLS:C4072834", "SNOMEDCT:48610005"], "information_content": 95.4}
{"id": "MONDO:0010541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked calvarial hyperostosis", "equivalent_identifiers": ["MONDO:0010541", "OMIM:302030", "orphanet:391327", "UMLS:C1863351", "UMLS:C4280519", "UMLS:C4280520", "UMLS:C5190611", "MESH:C537963", "SNOMEDCT:782786001", "medgen:1674665", "HP:0004490"], "information_content": 100.0}
{"id": "HP:0034975", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Occipital horn", "equivalent_identifiers": ["HP:0034975", "UMLS:C5782305"], "information_content": 100.0}
{"id": "MONDO:0012436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal diabetes mellitus with congenital hypothyroidism", "equivalent_identifiers": ["MONDO:0012436", "DOID:0060638", "OMIM:610199", "orphanet:79118", "UMLS:C1857775", "MESH:C565705", "medgen:347541"], "information_content": 100.0}
{"id": "HP:0025484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating thyroglobulin concentration", "equivalent_identifiers": ["HP:0025484", "UMLS:C4476805"], "information_content": 100.0}
{"id": "HP:0031507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating T4 concentration", "equivalent_identifiers": ["HP:0031507", "UMLS:C4531078"], "information_content": 100.0}
{"id": "MONDO:0005080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "portal hypertension", "equivalent_identifiers": ["MONDO:0005080", "DOID:10762", "EFO:0000666", "UMLS:C0020541", "MESH:D006975", "MEDDRA:10020786", "MEDDRA:10036200", "MEDDRA:10036201", "NCIT:C3119", "SNOMEDCT:34742003", "medgen:9375", "icd11.foundation:1506184775", "ICD10:K76.6", "ICD9:572.3", "HP:0001409"], "information_content": 89.4}
{"id": "MONDO:0018612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypothyroidism", "equivalent_identifiers": ["MONDO:0018612", "DOID:0050328", "orphanet:442", "UMLS:C0010308", "UMLS:C3165526", "MESH:D003409", "MEDDRA:10010510", "MEDDRA:10011381", "MEDDRA:10021115", "NCIT:C197816", "NCIT:C26734", "NCIT:C27116", "SNOMEDCT:190268003", "SNOMEDCT:217710005", "medgen:41344", "icd11.foundation:602450215", "ICD10:E00.1", "ICD10:E03.1", "ICD9:243", "HP:0000851"], "information_content": 76.4}
{"id": "MONDO:0020642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease", "equivalent_identifiers": ["MONDO:0020642", "DOID:0080322", "OMIM.PS:173900", "EFO:0008620", "UMLS:C0022680", "UMLS:C0311245", "UMLS:C1567435", "MESH:D007690", "MEDDRA:10010428", "MEDDRA:10023433", "MEDDRA:10036045", "MEDDRA:10036048", "NCIT:C75464", "SNOMEDCT:82525005", "medgen:9639", "HP:0000113"], "information_content": 76.7}
{"id": "MONDO:0007721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hiatus hernia", "equivalent_identifiers": ["MONDO:0007721", "DOID:12642", "OMIM:142400", "UMLS:C0267725", "UMLS:C0376710", "UMLS:C3489393", "MESH:D006551", "MEDDRA:10018802", "MEDDRA:10019914", "MEDDRA:10020024", "MEDDRA:10020028", "MEDDRA:10033774", "MEDDRA:10033884", "MEDDRA:10039210", "MEDDRA:10041019", "MEDDRA:10058165", "MEDDRA:10058167", "MEDDRA:10059188", "MEDDRA:10072765", "MEDDRA:10075920", "MEDDRA:10075921", "MEDDRA:10081550", "NCIT:C98945", "SNOMEDCT:236053002", "SNOMEDCT:3662000", "SNOMEDCT:84089009", "medgen:483347", "ICD10:K44", "HP:0002036"], "information_content": 95.4}
{"id": "HP:0030423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splenic cyst", "equivalent_identifiers": ["HP:0030423", "UMLS:C0272407", "MEDDRA:10051169", "SNOMEDCT:79040006"], "information_content": 100.0}
{"id": "HP:0025379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-thyroid peroxidase antibody positivity", "equivalent_identifiers": ["HP:0025379", "UMLS:C4476743"], "information_content": 100.0}
{"id": "HP:0002594", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic hypoplasia", "equivalent_identifiers": ["HP:0002594", "UMLS:C0266267", "SNOMEDCT:68591005"], "information_content": 92.8}
{"id": "HP:0007906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ocular hypertension", "equivalent_identifiers": ["HP:0007906", "NCIT:C50618", "UMLS:C0234708", "MEDDRA:10021667", "MEDDRA:10022805", "MEDDRA:10022806", "MEDDRA:10022809", "MEDDRA:10030066", "MEDDRA:10036648", "MEDDRA:10037819", "MEDDRA:10043273", "MEDDRA:10056913", "SNOMEDCT:112222000"], "information_content": 100.0}
{"id": "MONDO:0020366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrophthalmos", "equivalent_identifiers": ["MONDO:0020366", "DOID:11212", "EFO:1000968", "UMLS:C0020302", "MESH:D006871", "MEDDRA:10010486", "MEDDRA:10012565", "MEDDRA:10018324", "MEDDRA:10018325", "MEDDRA:10018327", "MEDDRA:10064033", "NCIT:C50648", "SNOMEDCT:204113001", "SNOMEDCT:413728006", "medgen:42532", "ICD10:Q15.0", "HP:0001087"], "information_content": 84.8}
{"id": "MONDO:0002251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatitis", "equivalent_identifiers": ["MONDO:0002251", "DOID:2237", "UMLS:C0001308", "UMLS:C0019158", "UMLS:C0149519", "MESH:D006505", "MEDDRA:10009103", "MEDDRA:10019717", "MEDDRA:10019759", "MEDDRA:10019789", "MEDDRA:10019790", "MEDDRA:10019802", "MEDDRA:10029715", "MEDDRA:10078239", "NCIT:C3095", "SNOMEDCT:128241005", "SNOMEDCT:197268000", "SNOMEDCT:41889008", "medgen:5515", "ICD10:K73.9", "ICD9:570", "ICD9:571.4", "ICD9:571.41", "HP:0012115"], "information_content": 73.3}
{"id": "HP:0002925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating thyroid-stimulating hormone concentration", "equivalent_identifiers": ["HP:0002925", "UMLS:C0586553", "MEDDRA:10021690", "MEDDRA:10040417", "MEDDRA:10043770", "MEDDRA:10043807", "MEDDRA:10043810", "MEDDRA:10043811", "MEDDRA:10044717", "MEDDRA:10044718", "SNOMEDCT:309080005"], "information_content": 100.0}
{"id": "HP:0001737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic Cyst", "equivalent_identifiers": ["HP:0001737", "NCIT:C3304", "UMLS:C0030283", "UMLS:C1860394", "MEDDRA:10033580", "MEDDRA:10033615", "SNOMEDCT:31258000", "MESH:D010181"], "information_content": 100.0}
{"id": "HP:0002944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracolumbar scoliosis", "equivalent_identifiers": ["HP:0002944", "UMLS:C0749379", "MEDDRA:10085744"], "information_content": 90.9}
{"id": "MONDO:0030718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 67", "equivalent_identifiers": ["MONDO:0030718", "DOID:0070566", "OMIM:619803", "UMLS:C5676947", "medgen:1804099"], "information_content": 100.0}
{"id": "MONDO:0005372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "male infertility", "equivalent_identifiers": ["MONDO:0005372", "DOID:12336", "EFO:0004248", "UMLS:C0021364", "MESH:D007248", "MEDDRA:10021929", "MEDDRA:10025511", "SNOMEDCT:2904007", "medgen:5796", "icd11.foundation:753457327", "ICD10:N46", "ICD9:606", "HP:0003251"], "information_content": 68.4}
{"id": "MONDO:0007060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Globozoospermia", "equivalent_identifiers": ["MONDO:0007060", "DOID:0070167", "OMIM:102530", "UMLS:C0403825", "UMLS:C4225503", "NCIT:C158500", "SNOMEDCT:236818008", "medgen:96048", "HP:0012205"], "information_content": 90.9}
{"id": "MONDO:0013063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular fibrillation, paroxysmal familial, 2", "equivalent_identifiers": ["MONDO:0013063", "OMIM:612956", "UMLS:C2751829", "MESH:C567841", "medgen:442823"], "information_content": 100.0}
{"id": "MONDO:0013282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha 1-antitrypsin deficiency", "equivalent_identifiers": ["MONDO:0013282", "DOID:13372", "OMIM:613490", "orphanet:60", "UMLS:C0221757", "MESH:D019896", "MEDDRA:10001806", "MEDDRA:10001811", "MEDDRA:10083869", "NCIT:C84397", "SNOMEDCT:30188007", "medgen:67461", "icd11.foundation:824872160", "ICD10:E88.01", "ICD9:273.4"], "information_content": 100.0}
{"id": "HP:0032967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Panacinar emphysema", "equivalent_identifiers": ["HP:0032967", "NCIT:C197944", "UMLS:C0264393", "MEDDRA:10084188", "MEDDRA:10084189", "SNOMEDCT:4981000"], "information_content": 100.0}
{"id": "HP:0030169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastric varix", "equivalent_identifiers": ["HP:0030169", "NCIT:C197906", "UMLS:C0017145", "MEDDRA:10051012", "SNOMEDCT:91109007"], "information_content": 100.0}
{"id": "HP:0033709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased sputum production", "equivalent_identifiers": ["HP:0033709", "UMLS:C5539771"], "information_content": 100.0}
{"id": "MONDO:0004822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiectasis", "equivalent_identifiers": ["MONDO:0004822", "DOID:9563", "OMIM.PS:211400", "UMLS:C0006267", "MESH:D001987", "MEDDRA:10006445", "MEDDRA:10006446", "NCIT:C84475", "SNOMEDCT:12295008", "medgen:14234", "icd11.foundation:1935524933", "ICD10:J47", "ICD9:494", "HP:0002110"], "information_content": 88.2}
{"id": "MONDO:0005155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver cirrhosis", "equivalent_identifiers": ["MONDO:0005155", "DOID:5082", "EFO:0001422", "UMLS:C0023890", "MESH:D008103", "MEDDRA:10009211", "MEDDRA:10009213", "MEDDRA:10019641", "MEDDRA:10019642", "MEDDRA:10024667", "NCIT:C2951", "SNOMEDCT:19943007", "medgen:7368", "ICD10:K74.60", "HP:0001394"], "information_content": 79.6}
{"id": "HP:0002094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyspnea", "equivalent_identifiers": ["HP:0002094", "EFO:0009727", "NCIT:C2998", "NCIT:C99773", "UMLS:C0013404", "UMLS:C0425488", "MEDDRA:10006332", "MEDDRA:10006338", "MEDDRA:10006345", "MEDDRA:10012791", "MEDDRA:10013963", "MEDDRA:10013968", "MEDDRA:10013972", "MEDDRA:10013975", "MEDDRA:10040596", "MEDDRA:10040604", "SNOMEDCT:230145002", "SNOMEDCT:248581005", "SNOMEDCT:267036007", "MESH:D004417"], "information_content": 66.9}
{"id": "HP:0012735", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cough", "equivalent_identifiers": ["HP:0012735", "NCIT:C37935", "UMLS:C0010200", "MEDDRA:10011224", "MEDDRA:10011232", "SNOMEDCT:263731006", "SNOMEDCT:272039006", "SNOMEDCT:49727002", "MESH:D003371"], "information_content": 67.8}
{"id": "HP:0032025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating alpha-1-antitrypsin concentration", "equivalent_identifiers": ["HP:0032025", "UMLS:C4732808"], "information_content": 100.0}
{"id": "HP:0030828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wheezing", "equivalent_identifiers": ["HP:0030828", "EFO:0009715", "NCIT:C78718", "UMLS:C0043144", "UMLS:C0392681", "MEDDRA:10047921", "MEDDRA:10047923", "MEDDRA:10047924", "MEDDRA:10047927", "MEDDRA:10049200", "SNOMEDCT:272040008", "SNOMEDCT:56018004"], "information_content": 70.9}
{"id": "MONDO:0005607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic bronchitis", "equivalent_identifiers": ["MONDO:0005607", "EFO:0006505", "UMLS:C0008677", "MESH:D029481", "MEDDRA:10006458", "MEDDRA:10006459", "MEDDRA:10008841", "MEDDRA:10008843", "MEDDRA:10045659", "NCIT:C26722", "SNOMEDCT:63480004", "medgen:3084", "icd11.foundation:290835130", "HP:0004469"], "information_content": 100.0}
{"id": "HP:0002105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemoptysis", "equivalent_identifiers": ["HP:0002105", "NCIT:C3094", "UMLS:C0019079", "UMLS:C4703373", "MEDDRA:10005806", "MEDDRA:10011234", "MEDDRA:10018964", "MEDDRA:10019523", "MEDDRA:10041804", "SNOMEDCT:66857006", "SNOMEDCT:6686005", "MESH:D006469"], "information_content": 67.5}
{"id": "MONDO:0007256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver carcinoma", "equivalent_identifiers": ["MONDO:0007256", "DOID:684", "DOID:686", "OMIM:114550", "orphanet:88673", "EFO:0000182", "UMLS:C1862761", "UMLS:C1867955", "UMLS:C2239176", "UMLS:C2676033", "MESH:C567299", "MESH:D006528", "MEDDRA:10007416", "MEDDRA:10019838", "MEDDRA:10024658", "MEDDRA:10048491", "MEDDRA:10049010", "MEDDRA:10073071", "NCIT:C3099", "SNOMEDCT:109841003", "SNOMEDCT:1186630006", "SNOMEDCT:187769009", "SNOMEDCT:25370001", "medgen:389187", "icd11.foundation:1294035808", "HP:0001402"], "information_content": 65.4}
{"id": "MONDO:0013785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 34", "equivalent_identifiers": ["MONDO:0013785", "DOID:0081200", "OMIM:614499", "UMLS:C3281044", "NCIT:C153179", "medgen:482674"], "information_content": 100.0}
{"id": "MONDO:0016608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly", "equivalent_identifiers": ["MONDO:0016608", "orphanet:2477", "UMLS:C0221355", "UMLS:C2720434", "MESH:D058627", "MEDDRA:10049499", "MEDDRA:10050183", "MEDDRA:10088459", "MEDDRA:10088460", "MEDDRA:10088461", "NCIT:C35268", "SNOMEDCT:12138000", "SNOMEDCT:19410003", "SNOMEDCT:9740002", "medgen:65141", "icd11.foundation:368780653", "HP:0001355"], "information_content": 83.6}
{"id": "HP:0040194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased head circumference", "equivalent_identifiers": ["HP:0040194", "UMLS:C4083076"], "information_content": 70.8}
{"id": "MONDO:0009784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegic neuromuscular disorder with abnormal mitochondria", "equivalent_identifiers": ["MONDO:0009784", "OMIM:258470", "UMLS:C1850302", "MESH:C564925", "medgen:340508"], "information_content": 100.0}
{"id": "MONDO:0003425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia", "equivalent_identifiers": ["MONDO:0003425", "DOID:539", "UMLS:C0029089", "MESH:D009886", "MEDDRA:10015953", "MEDDRA:10028324", "MEDDRA:10030075", "MEDDRA:10030875", "MEDDRA:10030878", "MEDDRA:10033807", "MEDDRA:10033820", "NCIT:C79697", "SNOMEDCT:16110005", "medgen:45205", "icd11.foundation:1848588735", "ICD9:378.56", "HP:0000602"], "information_content": 79.9}
{"id": "HP:0001291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cranial nerve morphology", "equivalent_identifiers": ["HP:0001291", "UMLS:C1854510", "UMLS:C4020872"], "information_content": 66.1}
{"id": "HP:0008316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mitochondria in muscle tissue", "equivalent_identifiers": ["HP:0008316", "UMLS:C4021546"], "information_content": 100.0}
{"id": "MONDO:0011571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1", "equivalent_identifiers": ["MONDO:0011571", "OMIM:605594", "UMLS:C1854146", "MESH:C565316", "medgen:340145"], "information_content": 100.0}
{"id": "HP:0008619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral sensorineural hearing impairment", "equivalent_identifiers": ["HP:0008619", "UMLS:C0452138", "SNOMEDCT:194424005"], "information_content": 100.0}
{"id": "HP:0005101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High-frequency hearing impairment", "equivalent_identifiers": ["HP:0005101", "NCIT:C34663", "UMLS:C0018780", "MEDDRA:10020066", "SNOMEDCT:232326009", "SNOMEDCT:48758008", "MESH:D006316"], "information_content": 100.0}
{"id": "HP:0000360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tinnitus", "equivalent_identifiers": ["HP:0000360", "NCIT:C50772", "UMLS:C0040264", "MEDDRA:10014018", "MEDDRA:10014023", "MEDDRA:10029501", "MEDDRA:10039183", "MEDDRA:10043882", "MEDDRA:10043884", "SNOMEDCT:162349004", "SNOMEDCT:162352007", "SNOMEDCT:60862001", "MESH:D014012"], "information_content": 72.5}
{"id": "MONDO:0018849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentinogenesis imperfecta", "equivalent_identifiers": ["MONDO:0018849", "DOID:4154", "orphanet:49042", "UMLS:C0011436", "MESH:D003811", "MEDDRA:10054013", "NCIT:C84667", "SNOMEDCT:196286005", "medgen:8313", "icd11.foundation:2090257992", "HP:0000703"], "information_content": 90.9}
{"id": "MONDO:0009266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease type II", "equivalent_identifiers": ["MONDO:0009266", "DOID:0110958", "OMIM:230900", "orphanet:77260", "UMLS:C0268250", "MEDDRA:10075698", "SNOMEDCT:12246008", "medgen:78652"], "information_content": 100.0}
{"id": "HP:0002100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent aspiration pneumonia", "equivalent_identifiers": ["HP:0002100", "UMLS:C0747651", "SNOMEDCT:430969000"], "information_content": 100.0}
{"id": "HP:0010307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stridor", "equivalent_identifiers": ["HP:0010307", "NCIT:C78632", "UMLS:C0038450", "UMLS:C0237304", "MEDDRA:10042241", "SNOMEDCT:248573009", "SNOMEDCT:70407001"], "information_content": 87.2}
{"id": "HP:0002483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bulbar signs", "equivalent_identifiers": ["HP:0002483", "UMLS:C1856507"], "information_content": 100.0}
{"id": "HP:0002063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rigidity", "equivalent_identifiers": ["HP:0002063", "NCIT:C50659", "UMLS:C0026837", "MEDDRA:10028330", "MEDDRA:10039168", "MEDDRA:10039172", "MEDDRA:10063490", "MEDDRA:10076457", "SNOMEDCT:16046003", "MESH:D009127"], "information_content": 84.2}
{"id": "MONDO:0002465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiolitis", "equivalent_identifiers": ["MONDO:0002465", "DOID:2942", "UMLS:C0006271", "MESH:D001988", "MEDDRA:10006448", "NCIT:C39658", "SNOMEDCT:4120002", "medgen:14235", "HP:0011950"], "information_content": 84.8}
{"id": "HP:0011590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double aortic arch", "equivalent_identifiers": ["HP:0011590", "UMLS:C0265883", "SNOMEDCT:10451007"], "information_content": 95.4}
{"id": "HP:0001538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protuberant abdomen", "equivalent_identifiers": ["HP:0001538", "NCIT:C168403", "UMLS:C1854928"], "information_content": 100.0}
{"id": "HP:0002104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apnea", "equivalent_identifiers": ["HP:0002104", "NCIT:C26698", "UMLS:C0003578", "MEDDRA:10002972", "MEDDRA:10002974", "SNOMEDCT:1023001", "SNOMEDCT:248583008", "MESH:D001049"], "information_content": 85.5}
{"id": "MONDO:0014963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shashi-Pena syndrome", "equivalent_identifiers": ["MONDO:0014963", "OMIM:617190", "orphanet:689408", "UMLS:C4310672", "medgen:934639"], "information_content": 100.0}
{"id": "MONDO:0016231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "capillary malformation", "equivalent_identifiers": ["MONDO:0016231", "orphanet:211247", "UMLS:C0340803", "MESH:C562760", "MEDDRA:10089079", "SNOMEDCT:234118009", "medgen:90955", "HP:0025104"], "information_content": 80.9}
{"id": "HP:0006191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep palmar crease", "equivalent_identifiers": ["HP:0006191", "UMLS:C1857539"], "information_content": 100.0}
{"id": "MONDO:0004946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoglycemia", "equivalent_identifiers": ["MONDO:0004946", "DOID:9993", "UMLS:C0020615", "MESH:D007003", "MEDDRA:10020993", "MEDDRA:10020996", "MEDDRA:10020998", "MEDDRA:10021005", "MEDDRA:10021007", "NCIT:C3126", "SNOMEDCT:237630007", "SNOMEDCT:271327008", "SNOMEDCT:302866003", "medgen:6979", "ICD10:E16.2", "ICD9:251.2", "HP:0001943"], "information_content": 82.6}
{"id": "HP:0000378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cupped ear", "equivalent_identifiers": ["HP:0000378", "UMLS:C1845447", "UMLS:C4020892"], "information_content": 100.0}
{"id": "HP:0002057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent glabella", "equivalent_identifiers": ["HP:0002057", "UMLS:C1860247"], "information_content": 100.0}
{"id": "HP:0010952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild fetal ventriculomegaly", "equivalent_identifiers": ["HP:0010952", "UMLS:C4023628"], "information_content": 100.0}
{"id": "HP:0007413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevus flammeus of the forehead", "equivalent_identifiers": ["HP:0007413", "UMLS:C1848850"], "information_content": 100.0}
{"id": "MONDO:0001029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klippel-Feil syndrome", "equivalent_identifiers": ["MONDO:0001029", "DOID:10426", "OMIM.PS:118100", "orphanet:2345", "UMLS:C0022738", "MESH:D007714", "MEDDRA:10023464", "NCIT:C98967", "SNOMEDCT:388981000", "SNOMEDCT:5601008", "medgen:9645", "ICD10:Q76.1", "ICD9:756.16", "HP:0004602"], "information_content": 85.5}
{"id": "MONDO:0010699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked recessive 5", "equivalent_identifiers": ["MONDO:0010699", "DOID:0110210", "OMIM:311070", "orphanet:99014", "UMLS:C1839566", "MESH:C537129", "SNOMEDCT:763460007", "medgen:374254"], "information_content": 95.4}
{"id": "HP:0003383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onion bulb formation", "equivalent_identifiers": ["HP:0003383", "UMLS:C1847906"], "information_content": 95.4}
{"id": "HP:0003481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Segmental peripheral demyelination/remyelination", "equivalent_identifiers": ["HP:0003481", "UMLS:C1843077"], "information_content": 100.0}
{"id": "HP:0032460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased phosphoribosylpyrophosphate synthetase level", "equivalent_identifiers": ["HP:0032460", "UMLS:C5139359"], "information_content": 100.0}
{"id": "MONDO:0014959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant", "equivalent_identifiers": ["MONDO:0014959", "DOID:0080130", "OMIM:617184", "UMLS:C4310676", "medgen:934643"], "information_content": 100.0}
{"id": "MONDO:0000688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn organic aciduria", "equivalent_identifiers": ["MONDO:0000688", "DOID:0060159", "orphanet:289899", "UMLS:C0241775", "NCIT:C101334", "medgen:66037", "icd11.foundation:1921636230", "HP:0001992"], "information_content": 64.0}
{"id": "HP:0011924", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased activity of mitochondrial complex III", "equivalent_identifiers": ["HP:0011924", "UMLS:C3149083", "UMLS:C4020738"], "information_content": 100.0}
{"id": "HP:0009141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depletion of mitochondrial DNA in muscle tissue", "equivalent_identifiers": ["HP:0009141", "UMLS:C4021521"], "information_content": 95.4}
{"id": "HP:0008347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased activity of mitochondrial complex IV", "equivalent_identifiers": ["HP:0008347", "UMLS:C4020800"], "information_content": 100.0}
{"id": "MONDO:0958236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ullrich congenital muscular dystrophy 1C", "equivalent_identifiers": ["MONDO:0958236", "DOID:0060943", "OMIM:620728", "UMLS:C5935583", "medgen:1862699"], "information_content": 100.0}
{"id": "HP:0002751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kyphoscoliosis", "equivalent_identifiers": ["HP:0002751", "UMLS:C0575158", "MEDDRA:10023506", "SNOMEDCT:405773007"], "information_content": 89.4}
{"id": "MONDO:0000481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Torticollis", "equivalent_identifiers": ["MONDO:0000481", "DOID:0050840", "UMLS:C0040485", "UMLS:C0152116", "UMLS:C0949445", "MESH:D014103", "MEDDRA:10041407", "MEDDRA:10044074", "MEDDRA:10044078", "MEDDRA:10048058", "MEDDRA:10048059", "MEDDRA:10064124", "NCIT:C182201", "NCIT:C85072", "SNOMEDCT:270476009", "SNOMEDCT:74333002", "medgen:101818", "icd11.foundation:632668568", "HP:0000473"], "information_content": 95.4}
{"id": "HP:0020152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal joint hypermobility", "equivalent_identifiers": ["HP:0020152", "UMLS:C1850851"], "information_content": 100.0}
{"id": "HP:0003273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip contracture", "equivalent_identifiers": ["HP:0003273", "UMLS:C0409354", "SNOMEDCT:202283002"], "information_content": 95.4}
{"id": "HP:0034677", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle contracture", "equivalent_identifiers": ["HP:0034677", "UMLS:C0343148", "SNOMEDCT:239740007"], "information_content": 87.2}
{"id": "HP:0034671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knee contracture", "equivalent_identifiers": ["HP:0034671", "UMLS:C1837263"], "information_content": 92.8}
{"id": "HP:0003749", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelvic girdle muscle weakness", "equivalent_identifiers": ["HP:0003749", "UMLS:C0427064", "SNOMEDCT:249941003"], "information_content": 90.9}
{"id": "HP:0003547", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder girdle muscle weakness", "equivalent_identifiers": ["HP:0003547", "UMLS:C0427063", "UMLS:C0748691", "SNOMEDCT:249940002"], "information_content": 100.0}
{"id": "HP:0003722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck flexor weakness", "equivalent_identifiers": ["HP:0003722", "UMLS:C1843637"], "information_content": 100.0}
{"id": "MONDO:0009026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Costello syndrome", "equivalent_identifiers": ["MONDO:0009026", "DOID:0050469", "OMIM:218040", "orphanet:3071", "UMLS:C0587248", "MESH:D056685", "MEDDRA:10067380", "NCIT:C84652", "SNOMEDCT:309776008", "medgen:108454", "icd11.foundation:1946512039"], "information_content": 92.8}
{"id": "MONDO:0004986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary bladder carcinoma", "equivalent_identifiers": ["MONDO:0004986", "DOID:4007", "UMLS:C0699885", "MEDDRA:10005014", "MEDDRA:10005015", "MEDDRA:10007293", "MEDDRA:10007478", "MEDDRA:10046518", "NCIT:C4912", "SNOMEDCT:255108000", "medgen:147071", "HP:0002862"], "information_content": 66.2}
{"id": "MONDO:0008888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bronchomalacia", "equivalent_identifiers": ["MONDO:0008888", "OMIM:211450", "orphanet:411501", "UMLS:C0264353", "MESH:D055091", "MEDDRA:10051901", "MEDDRA:10053421", "NCIT:C98847", "SNOMEDCT:54203008", "medgen:137939", "icd11.foundation:766574679", "HP:0002780"], "information_content": 90.9}
{"id": "HP:0001808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fragile nails", "equivalent_identifiers": ["HP:0001808", "UMLS:C1856963"], "information_content": 100.0}
{"id": "HP:0001609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hoarse voice", "equivalent_identifiers": ["HP:0001609", "NCIT:C47813", "UMLS:C0019825", "UMLS:C1854348", "MEDDRA:10020200", "MEDDRA:10020201", "MEDDRA:10020202", "SNOMEDCT:50219008", "MESH:D006685"], "information_content": 69.6}
{"id": "MONDO:0001569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acoustic neuroma", "equivalent_identifiers": ["MONDO:0001569", "DOID:12689", "orphanet:252175", "UMLS:C0027859", "MESH:D009464", "MEDDRA:10000522", "MEDDRA:10000523", "MEDDRA:10048925", "MEDDRA:10083886", "NCIT:C3276", "SNOMEDCT:126949007", "medgen:45062", "icd11.foundation:480288993", "HP:0009588"], "information_content": 92.8}
{"id": "MONDO:0005212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdomyosarcoma", "equivalent_identifiers": ["MONDO:0005212", "DOID:3247", "orphanet:780", "EFO:0002918", "UMLS:C0035412", "MESH:D012208", "MEDDRA:10039022", "MEDDRA:10039023", "MEDDRA:10039024", "MEDDRA:10039028", "NCIT:C3359", "SNOMEDCT:302847003", "SNOMEDCT:30924005", "medgen:20561", "HP:0002859"], "information_content": 67.4}
{"id": "MONDO:0007035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acanthosis nigricans", "equivalent_identifiers": ["MONDO:0007035", "DOID:3138", "EFO:1000660", "UMLS:C0000889", "UMLS:C0392440", "MESH:D000052", "MEDDRA:10000350", "MEDDRA:10000530", "NCIT:C26687", "SNOMEDCT:402599005", "SNOMEDCT:72129000", "medgen:54", "icd11.foundation:71488193", "ICD10:L83", "HP:0000956"], "information_content": 92.8}
{"id": "MONDO:0015496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macroglossia", "equivalent_identifiers": ["MONDO:0015496", "orphanet:156207", "UMLS:C0024421", "MESH:D008260", "NCIT:C84832", "SNOMEDCT:25273001", "medgen:44236", "icd11.foundation:670519908", "HP:0000158"], "information_content": 90.9}
{"id": "HP:0001187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperextensibility of the finger joints", "equivalent_identifiers": ["HP:0001187", "UMLS:C1844577"], "information_content": 95.4}
{"id": "HP:0001816", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin nail", "equivalent_identifiers": ["HP:0001816", "UMLS:C0423823", "MEDDRA:10060901", "SNOMEDCT:63829008"], "information_content": 92.8}
{"id": "HP:0001814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep-set nails", "equivalent_identifiers": ["HP:0001814", "UMLS:C3277753"], "information_content": 100.0}
{"id": "HP:0001699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sudden death", "equivalent_identifiers": ["HP:0001699", "UMLS:C0011071", "MEDDRA:10042434", "MEDDRA:10042435", "MEDDRA:10052810", "SNOMEDCT:26636000", "MESH:D003645"], "information_content": 92.8}
{"id": "HP:0001552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barrel chest", "equivalent_identifiers": ["HP:0001552", "UMLS:C0264172", "MEDDRA:10004133", "SNOMEDCT:24228002"], "information_content": 100.0}
{"id": "MONDO:0007263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arrhythmia", "equivalent_identifiers": ["MONDO:0007263", "EFO:0004269", "UMLS:C0003811", "UMLS:C0264886", "UMLS:C0855329", "UMLS:C1744601", "UMLS:C1832603", "UMLS:C1842820", "MESH:D000075224", "MESH:D001145", "MEDDRA:10000032", "MEDDRA:10003119", "MEDDRA:10003120", "MEDDRA:10003123", "MEDDRA:10003127", "MEDDRA:10007518", "MEDDRA:10007519", "MEDDRA:10007520", "MEDDRA:10007521", "MEDDRA:10007544", "MEDDRA:10007545", "MEDDRA:10008396", "MEDDRA:10010276", "MEDDRA:10010277", "MEDDRA:10010278", "MEDDRA:10010279", "MEDDRA:10013978", "MEDDRA:10014371", "MEDDRA:10019300", "MEDDRA:10061116", "NCIT:C2881", "NCIT:C50543", "NCIT:C78245", "SNOMEDCT:361135004", "SNOMEDCT:361136003", "SNOMEDCT:698247007", "medgen:2039", "ICD10:I49", "ICD10:R00", "HP:0011675"], "information_content": 68.8}
{"id": "MONDO:0006840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphangiectasis", "equivalent_identifiers": ["MONDO:0006840", "EFO:1001025", "UMLS:C0024214", "MESH:D008200", "MEDDRA:10025210", "MEDDRA:10025214", "MEDDRA:10087674", "NCIT:C97087", "SNOMEDCT:48087001", "medgen:9827", "HP:0031842"], "information_content": 86.3}
{"id": "HP:0001548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overgrowth", "equivalent_identifiers": ["HP:0001548", "UMLS:C1849265", "UMLS:C1851731", "UMLS:C3150281"], "information_content": 71.6}
{"id": "MONDO:0021113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory failure", "equivalent_identifiers": ["MONDO:0021113", "DOID:11162", "EFO:0009686", "UMLS:C0264492", "UMLS:C1145670", "MESH:D012131", "MEDDRA:10009126", "MEDDRA:10016162", "MEDDRA:10038651", "MEDDRA:10038695", "NCIT:C26872", "SNOMEDCT:39871006", "SNOMEDCT:409622000", "medgen:257837", "icd11.foundation:370028006", "ICD10:J96.0", "ICD9:518.81", "HP:0002878"], "information_content": 83.6}
{"id": "HP:0005989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Redundant neck skin", "equivalent_identifiers": ["HP:0005989", "UMLS:C1840319"], "information_content": 100.0}
{"id": "HP:0001622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature birth", "equivalent_identifiers": ["HP:0001622", "EFO:0003917", "NCIT:C92861", "UMLS:C0151526", "UMLS:C0233315", "MEDDRA:10004953", "MEDDRA:10014049", "MEDDRA:10036594", "MEDDRA:10036595", "SNOMEDCT:282020008", "SNOMEDCT:367494004", "SNOMEDCT:49550006", "MESH:D047928"], "information_content": 87.2}
{"id": "HP:0002093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory insufficiency", "equivalent_identifiers": ["HP:0002093", "NCIT:C51447", "UMLS:C0035229", "UMLS:C4020855", "MEDDRA:10038701", "SNOMEDCT:409623005"], "information_content": 80.2}
{"id": "HP:0012081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged cerebellum", "equivalent_identifiers": ["HP:0012081", "UMLS:C3278024"], "information_content": 95.4}
{"id": "MONDO:0007867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Koilonychia", "equivalent_identifiers": ["MONDO:0007867", "DOID:0080080", "OMIM:149300", "UMLS:C0221261", "UMLS:C0266000", "UMLS:C3276971", "MESH:C537260", "MEDDRA:10054999", "SNOMEDCT:18749008", "SNOMEDCT:66270006", "medgen:75593", "HP:0001598"], "information_content": 100.0}
{"id": "MONDO:0004910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitral valve prolapse", "equivalent_identifiers": ["MONDO:0004910", "DOID:988", "UMLS:C0026267", "MESH:D008945", "MEDDRA:10016786", "MEDDRA:10027717", "MEDDRA:10027730", "MEDDRA:10036853", "NCIT:C50655", "SNOMEDCT:409712001", "SNOMEDCT:8074002", "medgen:7671", "icd11.foundation:1085590500", "HP:0001634"], "information_content": 89.4}
{"id": "MONDO:0008553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 17", "equivalent_identifiers": ["MONDO:0008553", "DOID:0111049", "OMIM:187900", "UMLS:C1861194", "MESH:C566060", "NCIT:C142084", "medgen:396078"], "information_content": 100.0}
{"id": "HP:0012526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of alpha granules", "equivalent_identifiers": ["HP:0012526", "UMLS:C4022864"], "information_content": 100.0}
{"id": "HP:0040185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrothrombocytopenia", "equivalent_identifiers": ["HP:0040185", "UMLS:C2751260"], "information_content": 100.0}
{"id": "MONDO:0044903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelofibrosis", "equivalent_identifiers": ["MONDO:0044903", "UMLS:C0026987", "MEDDRA:10028537", "MEDDRA:10028580", "MEDDRA:10028581", "MEDDRA:10028583", "MEDDRA:10077183", "NCIT:C3248", "SNOMEDCT:52967002", "medgen:10146", "HP:0011974"], "information_content": 83.6}
{"id": "HP:0031965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased RBC distribution width", "equivalent_identifiers": ["HP:0031965", "UMLS:C0948014", "MEDDRA:10051294", "MEDDRA:10051302", "MEDDRA:10053920"], "information_content": 100.0}
{"id": "HP:0011890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged bleeding following procedure", "equivalent_identifiers": ["HP:0011890", "UMLS:C4023142"], "information_content": 89.4}
{"id": "HP:0008320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired collagen-induced platelet aggregation", "equivalent_identifiers": ["HP:0008320", "UMLS:C4024703"], "information_content": 100.0}
{"id": "HP:0000967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Petechiae", "equivalent_identifiers": ["HP:0000967", "NCIT:C3323", "UMLS:C0031256", "UMLS:C0241144", "MEDDRA:10034752", "MEDDRA:10034754", "MEDDRA:10034756", "MEDDRA:10037882", "MEDDRA:10087542", "SNOMEDCT:271813007", "SNOMEDCT:423716004", "SNOMEDCT:50091001"], "information_content": 95.4}
{"id": "HP:0008148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired epinephrine-induced platelet aggregation", "equivalent_identifiers": ["HP:0008148", "UMLS:C4024727"], "information_content": 100.0}
{"id": "HP:0003337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced prothrombin consumption", "equivalent_identifiers": ["HP:0003337", "UMLS:C4021732"], "information_content": 100.0}
{"id": "MONDO:0009187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "celiac disease-epilepsy-cerebral calcification syndrome", "equivalent_identifiers": ["MONDO:0009187", "OMIM:226810", "orphanet:1459", "UMLS:C1856930", "MESH:C535496", "medgen:341654"], "information_content": 100.0}
{"id": "MONDO:0005130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "celiac disease", "equivalent_identifiers": ["MONDO:0005130", "DOID:10608", "OMIM.PS:212750", "EFO:0001060", "UMLS:C0007570", "MESH:D002446", "MEDDRA:10007864", "MEDDRA:10007865", "MEDDRA:10009839", "MEDDRA:10018458", "MEDDRA:10018461", "MEDDRA:10029525", "MEDDRA:10058248", "NCIT:C26714", "SNOMEDCT:396331005", "medgen:3291", "ICD10:K90.0", "ICD9:579.0", "HP:0002608"], "information_content": 80.6}
{"id": "MONDO:0859233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 6, with pyloric atresia", "equivalent_identifiers": ["MONDO:0859233", "OMIM:619817", "UMLS:C5676957", "medgen:1803348"], "information_content": 100.0}
{"id": "HP:0004399", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital pyloric atresia", "equivalent_identifiers": ["HP:0004399", "UMLS:C4025327"], "information_content": 100.0}
{"id": "HP:0003341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lamina lucida cleavage", "equivalent_identifiers": ["HP:0003341", "UMLS:C4021730"], "information_content": 100.0}
{"id": "HP:0008066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin bulla", "equivalent_identifiers": ["HP:0008066", "UMLS:C0241054", "UMLS:C2132198", "UMLS:C2220104", "SNOMEDCT:823996003"], "information_content": 68.8}
{"id": "HP:0007385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Defect of scalp", "equivalent_identifiers": ["HP:0007385", "UMLS:C1855698", "UMLS:C4048801", "UMLS:C4072857", "UMLS:C4072858"], "information_content": 89.4}
{"id": "HP:0010450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophageal stenosis", "equivalent_identifiers": ["HP:0010450", "UMLS:C0014866", "MEDDRA:10015448", "MEDDRA:10030194", "MEDDRA:10041978", "MEDDRA:10056088", "MESH:D004940"], "information_content": 95.4}
{"id": "HP:0007589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia cutis congenita on trunk or limbs", "equivalent_identifiers": ["HP:0007589", "UMLS:C1863496"], "information_content": 100.0}
{"id": "HP:0200097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral mucosal blisters", "equivalent_identifiers": ["HP:0200097", "UMLS:C0853945", "MEDDRA:10030986", "MEDDRA:10030987", "MEDDRA:10030995"], "information_content": 100.0}
{"id": "HP:0020117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic dermoepidermal hemidesmosomes", "equivalent_identifiers": ["HP:0020117", "UMLS:C5209220"], "information_content": 100.0}
{"id": "MONDO:0031031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 77", "equivalent_identifiers": ["MONDO:0031031", "DOID:0081236", "OMIM:619988", "UMLS:C5774193", "medgen:1823966"], "information_content": 100.0}
{"id": "HP:0001058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor wound healing", "equivalent_identifiers": ["HP:0001058", "UMLS:C1851789"], "information_content": 100.0}
{"id": "HP:0002317", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unsteady gait", "equivalent_identifiers": ["HP:0002317", "NCIT:C122478", "UMLS:C0231686", "MEDDRA:10017582", "MEDDRA:10017589", "MEDDRA:10022455", "MEDDRA:10046261", "SNOMEDCT:22631008", "SNOMEDCT:394616008"], "information_content": 95.4}
{"id": "HP:0012169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Self-biting", "equivalent_identifiers": ["HP:0012169", "UMLS:C0424375", "SNOMEDCT:248072009"], "information_content": 90.9}
{"id": "HP:0002346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Head tremor", "equivalent_identifiers": ["HP:0002346", "UMLS:C0239882", "MEDDRA:10064957"], "information_content": 95.4}
{"id": "MONDO:0012143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary cryohydrocytosis with reduced stomatin", "equivalent_identifiers": ["MONDO:0012143", "OMIM:608885", "orphanet:168577", "UMLS:C1837206", "MESH:C563840", "medgen:332390", "icd11.foundation:1459095719"], "information_content": 100.0}
{"id": "HP:0004446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stomatocytosis", "equivalent_identifiers": ["HP:0004446", "UMLS:C0677598"], "information_content": 100.0}
{"id": "HP:0011972", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglycorrhachia", "equivalent_identifiers": ["HP:0011972", "UMLS:C0598121"], "information_content": 100.0}
{"id": "HP:0032660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Convulsive status epilepticus", "equivalent_identifiers": ["HP:0032660", "UMLS:C5887064", "SNOMEDCT:13973009"], "information_content": 92.8}
{"id": "HP:0000952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jaundice", "equivalent_identifiers": ["HP:0000952", "NCIT:C3143", "UMLS:C0022346", "MEDDRA:10021207", "MEDDRA:10023126", "MEDDRA:10023139", "SNOMEDCT:18165001", "MESH:D007565"], "information_content": 64.6}
{"id": "HP:0007229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intracerebral periventricular calcifications", "equivalent_identifiers": ["HP:0007229", "UMLS:C1837246"], "information_content": 100.0}
{"id": "HP:0030948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated gamma-glutamyltransferase level", "equivalent_identifiers": ["HP:0030948", "UMLS:C4476869"], "information_content": 100.0}
{"id": "HP:0002908", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjugated hyperbilirubinemia", "equivalent_identifiers": ["HP:0002908", "NCIT:C113768", "UMLS:C0268307", "MEDDRA:10075815", "MEDDRA:10075821", "SNOMEDCT:9326001"], "information_content": 100.0}
{"id": "MONDO:0030681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 94 with autoinflammation and dysmorphic facies", "equivalent_identifiers": ["MONDO:0030681", "DOID:0061064", "OMIM:619750", "UMLS:C5676918", "medgen:1802872"], "information_content": 100.0}
{"id": "HP:0002002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep philtrum", "equivalent_identifiers": ["HP:0002002", "UMLS:C1839797", "UMLS:C4020861"], "information_content": 100.0}
{"id": "MONDO:0005380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteonecrosis", "equivalent_identifiers": ["MONDO:0005380", "DOID:0080008", "DOID:10159", "orphanet:399158", "EFO:0004259", "UMLS:C0003977", "UMLS:C0029445", "UMLS:C0085660", "UMLS:C0158442", "UMLS:C0158449", "UMLS:C0158450", "UMLS:C0158451", "UMLS:C0520474", "UMLS:C0745048", "UMLS:C0877326", "MESH:D010020", "MEDDRA:10003459", "MEDDRA:10003460", "MEDDRA:10003461", "MEDDRA:10003462", "MEDDRA:10003463", "MEDDRA:10003464", "MEDDRA:10003465", "MEDDRA:10003467", "MEDDRA:10005994", "MEDDRA:10023264", "MEDDRA:10028855", "MEDDRA:10031239", "MEDDRA:10031264", "MEDDRA:10049824", "NCIT:C27220", "NCIT:C34404", "NCIT:C34880", "NCIT:C35226", "NCIT:C35476", "NCIT:C35517", "SNOMEDCT:1335749006", "SNOMEDCT:203475004", "SNOMEDCT:203478002", "SNOMEDCT:240196003", "SNOMEDCT:268030004", "SNOMEDCT:398199007", "SNOMEDCT:62100001", "SNOMEDCT:72756009", "medgen:45249", "icd11.foundation:536467755", "ICD10:M87", "ICD10:M87.9", "ICD9:732.3", "ICD9:733.41", "ICD9:733.42", "ICD9:733.43", "ICD9:733.44", "HP:0010885"], "information_content": 76.0}
{"id": "HP:0033332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating amyloid A concentration", "equivalent_identifiers": ["HP:0033332", "UMLS:C5539521"], "information_content": 100.0}
{"id": "HP:0002716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lymphadenopathy", "equivalent_identifiers": ["HP:0002716", "NCIT:C50765", "UMLS:C0497156", "UMLS:C4282165", "MEDDRA:10014847", "MEDDRA:10018299", "MEDDRA:10025186", "MEDDRA:10025197", "MEDDRA:10042720", "MEDDRA:10067201", "SNOMEDCT:30746006", "MESH:D000072281"], "information_content": 75.7}
{"id": "MONDO:0005167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibroma", "equivalent_identifiers": ["MONDO:0005167", "DOID:0050871", "EFO:0002424", "UMLS:C0016045", "MESH:D005350", "MEDDRA:10016629", "MEDDRA:10016630", "MEDDRA:10045154", "NCIT:C3041", "SNOMEDCT:112682009", "SNOMEDCT:424568000", "medgen:42016", "HP:0010614"], "information_content": 74.2}
{"id": "HP:0011227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating C-reactive protein concentration", "equivalent_identifiers": ["HP:0011227", "UMLS:C0742906", "UMLS:C4023452", "MEDDRA:10006825", "MEDDRA:10006830", "MEDDRA:10011418", "SNOMEDCT:119971000119104"], "information_content": 100.0}
{"id": "MONDO:0001245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcytic anemia", "equivalent_identifiers": ["MONDO:0001245", "DOID:11252", "UMLS:C0085576", "UMLS:C5194182", "MEDDRA:10002066", "MEDDRA:10002299", "MEDDRA:10027538", "MEDDRA:10027539", "NCIT:C35141", "SNOMEDCT:234349007", "medgen:1673948", "icd11.foundation:1380406043", "HP:0001935"], "information_content": 83.6}
{"id": "HP:0005403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased total T cell count", "equivalent_identifiers": ["HP:0005403", "UMLS:C2931322", "MEDDRA:10051318", "MEDDRA:10051330", "MESH:C536783"], "information_content": 72.2}
{"id": "MONDO:0005453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart disease", "equivalent_identifiers": ["MONDO:0005453", "DOID:1682", "EFO:0005207", "UMLS:C0018798", "UMLS:C0152021", "MESH:D006330", "MEDDRA:10002626", "MEDDRA:10010394", "MEDDRA:10010495", "MEDDRA:10013105", "MEDDRA:10019273", "MEDDRA:10019293", "MEDDRA:10025528", "MEDDRA:10045703", "NCIT:C34666", "NCIT:C95834", "SNOMEDCT:13213009", "medgen:57501", "ICD10:Q24.9", "ICD9:746.9", "HP:0001627"], "information_content": 54.8}
{"id": "MONDO:0007110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 1", "equivalent_identifiers": ["MONDO:0007110", "DOID:0111895", "OMIM:105650", "UMLS:C2676137", "MESH:C567302", "NCIT:C176911", "medgen:390966"], "information_content": 100.0}
{"id": "MONDO:0002249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytosis", "equivalent_identifiers": ["MONDO:0002249", "DOID:2228", "UMLS:C0836924", "UMLS:C0857460", "MESH:D013922", "MEDDRA:10021671", "MEDDRA:10021674", "MEDDRA:10035547", "MEDDRA:10043549", "MEDDRA:10043550", "MEDDRA:10043563", "MEDDRA:10051608", "MEDDRA:10056923", "MEDDRA:10069776", "MEDDRA:10074399", "NCIT:C162107", "NCIT:C35530", "SNOMEDCT:415115007", "SNOMEDCT:6631009", "medgen:163397", "ICD10:D75.83", "HP:0001894"], "information_content": 72.2}
{"id": "MONDO:0005997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricuspid valve stenosis", "equivalent_identifiers": ["MONDO:0005997", "DOID:4078", "EFO:0007525", "UMLS:C0040963", "MESH:D014264", "MEDDRA:10044636", "MEDDRA:10044642", "NCIT:C50783", "SNOMEDCT:49915006", "medgen:21678", "icd11.foundation:442626161", "HP:0010446"], "information_content": 92.8}
{"id": "MONDO:0005341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin basal cell carcinoma", "equivalent_identifiers": ["MONDO:0005341", "DOID:2513", "UMLS:C0007117", "UMLS:C1368295", "UMLS:C1862314", "UMLS:C4721806", "MEDDRA:10004146", "MEDDRA:10004150", "MEDDRA:10007286", "MEDDRA:10039208", "MEDDRA:10077422", "NCIT:C2921", "NCIT:C7586", "SNOMEDCT:1338007", "SNOMEDCT:252995000", "SNOMEDCT:254701007", "SNOMEDCT:275265005", "medgen:1648304", "KEGG.DISEASE:05217", "HP:0002671"], "information_content": 73.0}
{"id": "HP:0009777", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent thumb", "equivalent_identifiers": ["HP:0009777", "UMLS:C3278811", "SNOMEDCT:1144446007"], "information_content": 100.0}
{"id": "HP:0030270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated red cell adenosine deaminase activity", "equivalent_identifiers": ["HP:0030270", "UMLS:C4022547", "UMLS:C5872908"], "information_content": 100.0}
{"id": "MONDO:0000365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary congenital glaucoma", "equivalent_identifiers": ["MONDO:0000365", "DOID:0050593", "UMLS:C1533041", "NCIT:C150251", "SNOMEDCT:415176004", "medgen:288550", "icd11.foundation:517092878", "HP:0008007"], "information_content": 88.2}
{"id": "HP:0008447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic coccygeal vertebrae", "equivalent_identifiers": ["HP:0008447", "UMLS:C2751480"], "information_content": 100.0}
{"id": "HP:0002984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the radius", "equivalent_identifiers": ["HP:0002984", "NCIT:C99141", "UMLS:C0685381", "UMLS:C1840087", "MEDDRA:10084080", "SNOMEDCT:205170001", "SNOMEDCT:93288001"], "information_content": 92.8}
{"id": "MONDO:0018881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelodysplasia", "equivalent_identifiers": ["MONDO:0018881", "DOID:0050908", "OMIM:614286", "orphanet:52688", "EFO:0000198", "UMLS:C0026985", "UMLS:C0033027", "UMLS:C1851971", "UMLS:C2713368", "UMLS:C3276787", "UMLS:C3463824", "MESH:D009190", "MESH:D011289", "MEDDRA:10028532", "MEDDRA:10028533", "MEDDRA:10028534", "MEDDRA:10028536", "MEDDRA:10028548", "MEDDRA:10036587", "MEDDRA:10054577", "NCIT:C3247", "SNOMEDCT:109995007", "SNOMEDCT:128623006", "SNOMEDCT:188736006", "medgen:483005", "HP:0002863"], "information_content": 71.1}
{"id": "HP:0008475", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic sacral vertebrae", "equivalent_identifiers": ["HP:0008475", "UMLS:C2751479"], "information_content": 100.0}
{"id": "HP:0008437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid thoracic vertebrae", "equivalent_identifiers": ["HP:0008437", "UMLS:C2751478"], "information_content": 100.0}
{"id": "MONDO:0015253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia", "equivalent_identifiers": ["MONDO:0015253", "DOID:1339", "OMIM.PS:105650", "orphanet:124", "UMLS:C1260899", "UMLS:C1542667", "MESH:D029503", "MEDDRA:10062988", "MEDDRA:10062989", "NCIT:C61236", "SNOMEDCT:234371002", "SNOMEDCT:88854002", "medgen:266045", "ICD10:D61.01", "HP:0004810"], "information_content": 79.3}
{"id": "HP:0002697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Craniofenestria", "equivalent_identifiers": ["HP:0002697", "NCIT:C124518", "UMLS:C0222706", "UMLS:C0265537", "UMLS:C4280556", "MEDDRA:10072116", "MEDDRA:10072117", "SNOMEDCT:11240000", "SNOMEDCT:29307005"], "information_content": 100.0}
{"id": "HP:0001245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small thenar eminence", "equivalent_identifiers": ["HP:0001245", "UMLS:C1846474"], "information_content": 100.0}
{"id": "HP:0011904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistence of hemoglobin F", "equivalent_identifiers": ["HP:0011904", "NCIT:C36224", "UMLS:C0239941", "MEDDRA:10016859", "MEDDRA:10054735", "MEDDRA:10063254", "MEDDRA:10063275"], "information_content": 88.2}
{"id": "HP:0000946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic ilia", "equivalent_identifiers": ["HP:0000946", "UMLS:C1861218", "UMLS:C4280607"], "information_content": 89.4}
{"id": "HP:0005518", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased mean corpuscular volume", "equivalent_identifiers": ["HP:0005518", "UMLS:C0302845", "UMLS:C0855791", "MEDDRA:10027003", "MEDDRA:10027004", "MEDDRA:10051859", "MEDDRA:10087270", "SNOMEDCT:165454002"], "information_content": 100.0}
{"id": "MONDO:0008495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet storage pool deficiency", "equivalent_identifiers": ["MONDO:0008495", "DOID:2223", "OMIM:185050", "orphanet:734", "EFO:1001112", "UMLS:C0032197", "MESH:D010981", "MEDDRA:10084190", "SNOMEDCT:128099001", "SNOMEDCT:234474009", "SNOMEDCT:9417000", "medgen:19351"], "information_content": 100.0}
{"id": "MONDO:0010643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute leukemia", "equivalent_identifiers": ["MONDO:0010643", "DOID:12603", "EFO:1000068", "UMLS:C0085669", "UMLS:C1378511", "UMLS:C1378512", "UMLS:C4280572", "MESH:C564112", "MEDDRA:10000830", "MEDDRA:10000831", "MEDDRA:10000833", "MEDDRA:10000835", "MEDDRA:10000836", "MEDDRA:10024289", "MEDDRA:10024315", "MEDDRA:10024321", "MEDDRA:10024322", "MEDDRA:10024330", "MEDDRA:10024353", "MEDDRA:10024358", "MEDDRA:10024359", "MEDDRA:10060554", "NCIT:C9300", "SNOMEDCT:24072005", "SNOMEDCT:91855006", "medgen:43225", "ICD10:C95.00", "ICD9:208.0", "HP:0002488"], "information_content": 58.0}
{"id": "HP:0005537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased mean platelet volume", "equivalent_identifiers": ["HP:0005537", "UMLS:C1096368", "UMLS:C1833182", "MEDDRA:10055053"], "information_content": 100.0}
{"id": "MONDO:0033619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, epilepsy, and progressive cerebral atrophy", "equivalent_identifiers": ["MONDO:0033619", "OMIM:619036", "UMLS:C5436652", "medgen:1759100"], "information_content": 100.0}
{"id": "HP:0030799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scaphocephaly", "equivalent_identifiers": ["HP:0030799", "UMLS:C0265534", "MEDDRA:10049426", "SNOMEDCT:4191007"], "information_content": 100.0}
{"id": "HP:0003554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type 2 muscle fiber atrophy", "equivalent_identifiers": ["HP:0003554", "UMLS:C1864580"], "information_content": 100.0}
{"id": "MONDO:0018971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrocephaly", "equivalent_identifiers": ["MONDO:0018971", "UMLS:C0030044", "UMLS:C5399823", "SNOMEDCT:48069004", "medgen:1726910", "HP:0000262"], "information_content": 92.8}
{"id": "HP:0010602", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type 2 muscle fiber predominance", "equivalent_identifiers": ["HP:0010602", "UMLS:C3277187"], "information_content": 100.0}
{"id": "HP:0003403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "equivalent_identifiers": ["HP:0003403", "UMLS:C4020841", "UMLS:C4021728"], "information_content": 100.0}
{"id": "HP:0011807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type 1 muscle fiber atrophy", "equivalent_identifiers": ["HP:0011807", "UMLS:C4023180"], "information_content": 100.0}
{"id": "HP:0010516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thymus hyperplasia", "equivalent_identifiers": ["HP:0010516", "EFO:1001860", "UMLS:C0040115", "MEDDRA:10090903", "MESH:D013952"], "information_content": 95.4}
{"id": "HP:0010310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chylothorax", "equivalent_identifiers": ["HP:0010310", "EFO:1001780", "NCIT:C79546", "UMLS:C0008733", "MEDDRA:10051228", "SNOMEDCT:83035003", "MESH:D002916"], "information_content": 90.9}
{"id": "MONDO:0100079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 6A", "equivalent_identifiers": ["MONDO:0100079", "OMIM:607208"], "information_content": 95.4}
{"id": "MONDO:0020074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonus epilepsy", "equivalent_identifiers": ["MONDO:0020074", "DOID:891", "OMIM:310370", "OMIM.PS:254800", "orphanet:98261", "UMLS:C0751778", "UMLS:C4021759", "MESH:D020191", "MEDDRA:10089676", "NCIT:C7636", "SNOMEDCT:1208972001", "SNOMEDCT:192992007", "SNOMEDCT:267581004", "SNOMEDCT:37356005", "medgen:199732", "icd11.foundation:173613583", "HP:0002123"], "information_content": 80.9}
{"id": "HP:0001268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mental deterioration", "equivalent_identifiers": ["HP:0001268", "UMLS:C0234985", "MEDDRA:10027352"], "information_content": 64.7}
{"id": "HP:0011169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized clonic seizure", "equivalent_identifiers": ["HP:0011169", "UMLS:C4023499", "SNOMEDCT:1208970009"], "information_content": 100.0}
{"id": "HP:0002349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal aware seizure", "equivalent_identifiers": ["HP:0002349", "UMLS:C0234974", "MEDDRA:10034091", "MEDDRA:10040703", "MEDDRA:10083378", "SNOMEDCT:117891000119100", "SNOMEDCT:79348005"], "information_content": 71.8}
{"id": "HP:0020216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visually-induced seizure", "equivalent_identifiers": ["HP:0020216", "UMLS:C2080645", "MEDDRA:10086294"], "information_content": 90.9}
{"id": "MONDO:0010094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocarpotarsal synostosis syndrome", "equivalent_identifiers": ["MONDO:0010094", "DOID:0090116", "OMIM:272460", "orphanet:3275", "UMLS:C1848934", "MESH:C535780", "SNOMEDCT:702351004", "medgen:341339", "ICD10:Q76.4"], "information_content": 100.0}
{"id": "HP:0001377", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited elbow extension", "equivalent_identifiers": ["HP:0001377", "UMLS:C1867103"], "information_content": 92.8}
{"id": "MONDO:0013333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontoid hypoplasia", "equivalent_identifiers": ["MONDO:0013333", "OMIM:613628", "UMLS:C1846439", "MEDDRA:10087748", "NCIT:C86969", "medgen:339524", "HP:0003311"], "information_content": 100.0}
{"id": "HP:0000283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad face", "equivalent_identifiers": ["HP:0000283", "UMLS:C1859680"], "information_content": 95.4}
{"id": "MONDO:0004038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dental enamel hypoplasia", "equivalent_identifiers": ["MONDO:0004038", "DOID:693", "EFO:1001304", "UMLS:C0011351", "UMLS:C1851854", "UMLS:C3550640", "UMLS:C4280456", "UMLS:C4280457", "MESH:D003744", "MEDDRA:10014577", "MEDDRA:10021071", "NCIT:C34529", "SNOMEDCT:26597004", "SNOMEDCT:699382004", "SNOMEDCT:699421005", "medgen:3730", "HP:0006297"], "information_content": 78.8}
{"id": "HP:0006352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Failure of eruption of permanent teeth", "equivalent_identifiers": ["HP:0006352", "UMLS:C4025056", "UMLS:C4280447"], "information_content": 100.0}
{"id": "MONDO:0007391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coxa vara", "equivalent_identifiers": ["MONDO:0007391", "OMIM:122750", "EFO:1001298", "UMLS:C0152431", "UMLS:C0239138", "UMLS:C5551440", "MESH:D060905", "MEDDRA:10011248", "SNOMEDCT:1179328008", "SNOMEDCT:74820003", "medgen:1790477", "HP:0002812"], "information_content": 92.8}
{"id": "HP:0008456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C2-C3 subluxation", "equivalent_identifiers": ["HP:0008456", "UMLS:C2678323"], "information_content": 100.0}
{"id": "HP:0002656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epiphyseal dysplasia", "equivalent_identifiers": ["HP:0002656", "UMLS:C0392476", "UMLS:C4280566", "SNOMEDCT:254080004"], "information_content": 92.8}
{"id": "HP:0009702", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpal synostosis", "equivalent_identifiers": ["HP:0009702", "UMLS:C0431863", "SNOMEDCT:253930002", "SNOMEDCT:92843003"], "information_content": 87.2}
{"id": "MONDO:0044001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, mixed conductive-sensorineural", "equivalent_identifiers": ["MONDO:0044001", "UMLS:C0155552", "MESH:D046089", "MEDDRA:10027752", "MEDDRA:10027753", "MEDDRA:10027757", "NCIT:C26974", "SNOMEDCT:77507001", "medgen:102336", "HP:0000410"], "information_content": 100.0}
{"id": "HP:0003865", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowed humerus", "equivalent_identifiers": ["HP:0003865", "UMLS:C1859460"], "information_content": 95.4}
{"id": "HP:0002677", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small foramen magnum", "equivalent_identifiers": ["HP:0002677", "UMLS:C1535953", "UMLS:C1861217", "UMLS:C4072838", "MEDDRA:10064157", "SNOMEDCT:444879009"], "information_content": 100.0}
{"id": "HP:0007703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of retinal pigmentation", "equivalent_identifiers": ["HP:0007703", "UMLS:C1720508", "UMLS:C1862475", "SNOMEDCT:421689001"], "information_content": 85.5}
{"id": "HP:0001241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Capitate-hamate fusion", "equivalent_identifiers": ["HP:0001241", "UMLS:C1857002"], "information_content": 100.0}
{"id": "HP:0002691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Platybasia", "equivalent_identifiers": ["HP:0002691", "UMLS:C0032209", "MEDDRA:10057115", "SNOMEDCT:86587003", "MESH:D010985"], "information_content": 100.0}
{"id": "MONDO:0008527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tarsal coalition", "equivalent_identifiers": ["MONDO:0008527", "OMIM:186850", "UMLS:C0265654", "MESH:D000070604", "MEDDRA:10065407", "SNOMEDCT:27173008", "medgen:539393", "HP:0008368"], "information_content": 87.2}
{"id": "MONDO:0032678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 71", "equivalent_identifiers": ["MONDO:0032678", "DOID:0112207", "OMIM:618328", "orphanet:557064", "UMLS:C5193030", "SNOMEDCT:1222662000", "medgen:1680812"], "information_content": 100.0}
{"id": "HP:0012196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cheyne-Stokes respiration", "equivalent_identifiers": ["HP:0012196", "UMLS:C0008039", "UMLS:C1313952", "MEDDRA:10008501", "MEDDRA:10038649", "SNOMEDCT:271824009", "SNOMEDCT:309155007", "MESH:D002639"], "information_content": 100.0}
{"id": "HP:0002171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gliosis", "equivalent_identifiers": ["HP:0002171", "UMLS:C0017639", "MEDDRA:10008110", "MEDDRA:10018341", "SNOMEDCT:359580009", "SNOMEDCT:81415000", "MESH:D005911"], "information_content": 87.2}
{"id": "HP:0007305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CNS demyelination", "equivalent_identifiers": ["HP:0007305", "UMLS:C0338474"], "information_content": 89.4}
{"id": "HP:0009879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simplified gyral pattern", "equivalent_identifiers": ["HP:0009879", "UMLS:C2749675"], "information_content": 100.0}
{"id": "MONDO:0014580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 33", "equivalent_identifiers": ["MONDO:0014580", "DOID:0070063", "OMIM:616311", "UMLS:C4225375", "medgen:899389"], "information_content": 100.0}
{"id": "MONDO:0008568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone plasma membrane transport defect", "equivalent_identifiers": ["MONDO:0008568", "OMIM:188560", "UMLS:C1861101", "MESH:C536916", "medgen:396060"], "information_content": 100.0}
{"id": "HP:0008247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Euthyroid hyperthyroxinemia", "equivalent_identifiers": ["HP:0008247", "UMLS:C4021549", "SNOMEDCT:237551002"], "information_content": 95.4}
{"id": "MONDO:0005397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "goiter", "equivalent_identifiers": ["MONDO:0005397", "DOID:12176", "EFO:0004283", "UMLS:C0018021", "MESH:D006042", "MEDDRA:10014841", "MEDDRA:10018491", "MEDDRA:10018497", "MEDDRA:10018498", "MEDDRA:10018502", "MEDDRA:10043723", "MEDDRA:10064244", "MEDDRA:10078031", "MEDDRA:10079779", "NCIT:C26785", "SNOMEDCT:3716002", "medgen:42270", "ICD10:E04.9", "ICD9:240.9", "HP:0000853"], "information_content": 79.9}
{"id": "MONDO:0011479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irritable heart", "equivalent_identifiers": ["MONDO:0011479", "DOID:0111154", "OMIM:604715", "orphanet:443236", "EFO:1000645", "UMLS:C1299624", "UMLS:C2930833", "MESH:C531763", "MESH:D054972", "MEDDRA:10063080", "NCIT:C85020", "SNOMEDCT:371073003", "medgen:226970", "icd11.foundation:1533647472", "ICD10:I95.1"], "information_content": 95.4}
{"id": "HP:0003345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary norepinephrine level", "equivalent_identifiers": ["HP:0003345", "UMLS:C4025626", "UMLS:C5826344"], "information_content": 95.4}
{"id": "HP:0012173", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orthostatic tachycardia", "equivalent_identifiers": ["HP:0012173", "UMLS:C4021099", "MEDDRA:10088073"], "information_content": 100.0}
{"id": "MONDO:0007772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism type 2A", "equivalent_identifiers": ["MONDO:0007772", "OMIM:145260", "orphanet:88938", "UMLS:C1840389", "UMLS:C2713447", "MESH:C564160", "SNOMEDCT:703254001", "medgen:327088", "icd11.foundation:646091849"], "information_content": 100.0}
{"id": "MONDO:0018638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism", "equivalent_identifiers": ["MONDO:0018638", "DOID:0060854", "DOID:4479", "orphanet:444916", "UMLS:C0033805", "MESH:D011546", "MEDDRA:10080593", "NCIT:C85034", "SNOMEDCT:77098009", "medgen:18721", "HP:0008242"], "information_content": 82.6}
{"id": "HP:0001995", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperchloremic acidosis", "equivalent_identifiers": ["HP:0001995", "UMLS:C0085569", "MEDDRA:10000489", "MEDDRA:10000490", "MEDDRA:10020598", "MEDDRA:10020600", "SNOMEDCT:18104000"], "information_content": 95.4}
{"id": "MONDO:0008224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperkalemic periodic paralysis", "equivalent_identifiers": ["MONDO:0008224", "DOID:14451", "OMIM:170500", "orphanet:682", "UMLS:C0238357", "UMLS:C1868433", "MESH:C566809", "MESH:D020513", "MEDDRA:10076439", "MEDDRA:10076440", "NCIT:C123429", "SNOMEDCT:304737009", "medgen:68665", "icd11.foundation:1308452752", "HP:0007215"], "information_content": 100.0}
{"id": "MONDO:0033480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 45", "equivalent_identifiers": ["MONDO:0033480", "DOID:0080287", "OMIM:617769", "orphanet:589527", "UMLS:C4540400", "SNOMEDCT:1279840000", "medgen:1622156"], "information_content": 100.0}
{"id": "HP:0002070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb ataxia", "equivalent_identifiers": ["HP:0002070", "UMLS:C0750937"], "information_content": 90.9}
{"id": "HP:0010545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Downbeat nystagmus", "equivalent_identifiers": ["HP:0010545", "UMLS:C0585544", "SNOMEDCT:307676006"], "information_content": 100.0}
{"id": "MONDO:0012089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis prematurity syndrome", "equivalent_identifiers": ["MONDO:0012089", "OMIM:608649", "orphanet:88621", "UMLS:C1504431", "UMLS:C1837610", "MESH:C536271", "MEDDRA:10063725", "NCIT:C62590", "SNOMEDCT:12381000132107", "SNOMEDCT:763401009", "medgen:324839"], "information_content": 100.0}
{"id": "MONDO:0006663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perinatal asphyxia", "equivalent_identifiers": ["MONDO:0006663", "DOID:11088", "orphanet:137577", "EFO:1000824", "UMLS:C0004045", "UMLS:C0559477", "MESH:D001238", "MEDDRA:10003500", "MEDDRA:10004943", "MEDDRA:10028923", "MEDDRA:10073494", "NCIT:C116313", "SNOMEDCT:281578009", "SNOMEDCT:28314004", "SNOMEDCT:413654009", "medgen:2469", "icd11.foundation:1281282034", "ICD10:P84", "ICD9:768.9", "HP:0012768"], "information_content": 100.0}
{"id": "HP:0002293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alopecia of scalp", "equivalent_identifiers": ["HP:0002293", "UMLS:C0574769", "UMLS:C1850535", "SNOMEDCT:298000004"], "information_content": 95.4}
{"id": "MONDO:0011786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atopic rhinitis", "equivalent_identifiers": ["MONDO:0011786", "DOID:4481", "EFO:0005854", "UMLS:C0002103", "UMLS:C0847614", "UMLS:C2607914", "MESH:D065631", "MEDDRA:10001723", "MEDDRA:10003644", "MEDDRA:10039085", "MEDDRA:10039086", "MEDDRA:10039087", "MEDDRA:10076646", "MEDDRA:10083317", "NCIT:C34987", "NCIT:C79532", "SNOMEDCT:61582004", "medgen:382012", "icd11.foundation:1711769234", "HP:0003193"], "information_content": 89.4}
{"id": "MONDO:0007448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatographia", "equivalent_identifiers": ["MONDO:0007448", "DOID:743", "OMIM:125635", "EFO:1000685", "UMLS:C0343065", "UMLS:C1852145", "MESH:C536612", "MEDDRA:10012498", "MEDDRA:10012499", "MEDDRA:10012520", "MEDDRA:10012521", "MEDDRA:10084021", "MEDDRA:10088774", "NCIT:C111885", "SNOMEDCT:402410006", "SNOMEDCT:7632005", "medgen:342170", "ICD10:L50.3", "ICD9:708.3", "HP:0011971"], "information_content": 100.0}
{"id": "MONDO:0700226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "food allergy", "equivalent_identifiers": ["MONDO:0700226", "DOID:3044", "EFO:1001890", "UMLS:C0016470", "UMLS:C4554344", "MESH:D005512", "MEDDRA:10016946", "NCIT:C172304", "SNOMEDCT:414285001", "medgen:1635115", "HP:0500093"], "information_content": 84.2}
{"id": "HP:0025724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caseous vernix-like desquamation", "equivalent_identifiers": ["HP:0025724", "UMLS:C5676646"], "information_content": 100.0}
{"id": "MONDO:0400004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phrynoderma", "equivalent_identifiers": ["MONDO:0400004", "UMLS:C0334013", "NCIT:C112827", "SNOMEDCT:238629004", "SNOMEDCT:402341008", "SNOMEDCT:81845009", "medgen:83101", "icd11.foundation:1716182078", "HP:0007502"], "information_content": 100.0}
{"id": "HP:0007503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized ichthyosis", "equivalent_identifiers": ["HP:0007503", "UMLS:C3552528"], "information_content": 100.0}
{"id": "MONDO:0012392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-methylbutyryl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0012392", "OMIM:610006", "orphanet:79157", "UMLS:C1864912", "MESH:C566487", "NCIT:C98863", "SNOMEDCT:1306751004", "SNOMEDCT:444838008", "medgen:355324", "HP:0020147"], "information_content": 100.0}
{"id": "HP:0002045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypothermia", "equivalent_identifiers": ["HP:0002045", "NCIT:C50523", "NCIT:C78351", "UMLS:C0020672", "MEDDRA:10005909", "MEDDRA:10005910", "MEDDRA:10043202", "SNOMEDCT:386689009", "MESH:D007035"], "information_content": 95.4}
{"id": "HP:0033220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-ethylhydracylic aciduria", "equivalent_identifiers": ["HP:0033220", "UMLS:C5539431"], "information_content": 100.0}
{"id": "HP:0005949", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apneic episodes in infancy", "equivalent_identifiers": ["HP:0005949", "UMLS:C3807980"], "information_content": 100.0}
{"id": "HP:0003700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized amyotrophy", "equivalent_identifiers": ["HP:0003700", "UMLS:C1389113"], "information_content": 95.4}
{"id": "MONDO:0011698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycine N-methyltransferase deficiency", "equivalent_identifiers": ["MONDO:0011698", "DOID:0111037", "OMIM:606664", "orphanet:289891", "UMLS:C1847720", "SNOMEDCT:763720007", "medgen:338300", "icd11.foundation:16192453", "ICD10:E72.1"], "information_content": 100.0}
{"id": "MONDO:0014062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA deletion syndrome with progressive myopathy", "equivalent_identifiers": ["MONDO:0014062", "DOID:0111519", "OMIM:615156", "orphanet:352470", "UMLS:C3554599", "medgen:767513"], "information_content": 100.0}
{"id": "HP:0003551", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Difficulty climbing stairs", "equivalent_identifiers": ["HP:0003551", "UMLS:C0239067", "SNOMEDCT:282195009"], "information_content": 100.0}
{"id": "HP:0003391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gowers sign", "equivalent_identifiers": ["HP:0003391", "UMLS:C0234182", "UMLS:C0575071", "MEDDRA:10090991", "SNOMEDCT:298294005", "SNOMEDCT:85905009"], "information_content": 100.0}
{"id": "MONDO:0002050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depressed mood", "equivalent_identifiers": ["MONDO:0002050", "DOID:1596", "UMLS:C0011570", "UMLS:C0011581", "UMLS:C0344315", "UMLS:C0349217", "MESH:D003863", "MESH:D003866", "MEDDRA:10012374", "MEDDRA:10012377", "MEDDRA:10012378", "MEDDRA:10012386", "MEDDRA:10012387", "MEDDRA:10012399", "MEDDRA:10012401", "MEDDRA:10012402", "MEDDRA:10012403", "MEDDRA:10012404", "MEDDRA:10016325", "MEDDRA:10016329", "MEDDRA:10024919", "MEDDRA:10027942", "MEDDRA:10027943", "MEDDRA:10049709", "NCIT:C117199", "NCIT:C2982", "SNOMEDCT:21061000119107", "SNOMEDCT:35489007", "SNOMEDCT:366979004", "SNOMEDCT:871840004", "medgen:4229", "HP:0000716"], "information_content": 82.1}
{"id": "HP:0000597", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ophthalmoparesis", "equivalent_identifiers": ["HP:0000597", "UMLS:C0751401"], "information_content": 80.6}
{"id": "HP:0003326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myalgia", "equivalent_identifiers": ["HP:0003326", "NCIT:C27009", "NCIT:C35785", "UMLS:C0231528", "MEDDRA:10018089", "MEDDRA:10028287", "MEDDRA:10028299", "MEDDRA:10028322", "MEDDRA:10028323", "MEDDRA:10028332", "MEDDRA:10028361", "MEDDRA:10028362", "MEDDRA:10028411", "MEDDRA:10033466", "MEDDRA:10062441", "SNOMEDCT:68962001", "MESH:D063806"], "information_content": 92.8}
{"id": "HP:0003689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple mitochondrial DNA deletions", "equivalent_identifiers": ["HP:0003689", "UMLS:C3277376"], "information_content": 100.0}
{"id": "HP:0002875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exertional dyspnea", "equivalent_identifiers": ["HP:0002875", "UMLS:C0231807", "MEDDRA:10013966", "MEDDRA:10013971", "MEDDRA:10013973", "MEDDRA:10015637", "MEDDRA:10015656", "MEDDRA:10055546", "MEDDRA:10055547", "MEDDRA:10055548", "SNOMEDCT:60845006"], "information_content": 100.0}
{"id": "HP:0003546", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise intolerance", "equivalent_identifiers": ["HP:0003546", "NCIT:C119203", "UMLS:C0424551", "MEDDRA:10051301", "SNOMEDCT:267044007"], "information_content": 95.4}
{"id": "HP:0000590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive external ophthalmoplegia", "equivalent_identifiers": ["HP:0000590"], "information_content": 100.0}
{"id": "HP:0004673", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased facial expression", "equivalent_identifiers": ["HP:0004673", "UMLS:C1862474"], "information_content": 88.2}
{"id": "HP:0002527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Falls", "equivalent_identifiers": ["HP:0002527", "UMLS:C0085639", "MEDDRA:10016173", "MEDDRA:10016177", "MEDDRA:10016178", "SNOMEDCT:161898004", "SNOMEDCT:1912002"], "information_content": 100.0}
{"id": "MONDO:0019182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thinness", "equivalent_identifiers": ["MONDO:0019182", "OMIM:601665", "orphanet:77828", "UMLS:C0039870", "UMLS:C1850573", "UMLS:C4054476", "MESH:D013851", "NCIT:C120382", "SNOMEDCT:61294007", "medgen:885912", "HP:0001533"], "information_content": 86.3}
{"id": "MONDO:0008856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 27A", "equivalent_identifiers": ["MONDO:0008856", "DOID:0111955", "OMIM:209950", "UMLS:C4011949", "NCIT:C176806", "SNOMEDCT:718230004", "medgen:860386"], "information_content": 100.0}
{"id": "HP:0025043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged mesenteric lymph node", "equivalent_identifiers": ["HP:0025043", "UMLS:C4476563"], "information_content": 100.0}
{"id": "HP:0003496", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgM level", "equivalent_identifiers": ["HP:0003496", "UMLS:C1839972"], "information_content": 85.5}
{"id": "HP:0012649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased inflammatory response", "equivalent_identifiers": ["HP:0012649", "UMLS:C4022803"], "information_content": 57.7}
{"id": "MONDO:0002637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytosis", "equivalent_identifiers": ["MONDO:0002637", "DOID:3405", "UMLS:C0019618", "UMLS:C5848164", "MESH:D015614", "MEDDRA:10020117", "MEDDRA:10020118", "NCIT:C3106", "SNOMEDCT:60657004", "SNOMEDCT:65396000", "medgen:6845", "HP:0100727"], "information_content": 68.0}
{"id": "MONDO:0005351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anorexia", "equivalent_identifiers": ["MONDO:0005351", "DOID:8689", "UMLS:C0003123", "UMLS:C0003125", "UMLS:C0424424", "UMLS:C1971624", "MESH:D000855", "MESH:D000856", "MEDDRA:10002646", "MEDDRA:10002649", "MEDDRA:10003017", "MEDDRA:10003025", "MEDDRA:10003028", "MEDDRA:10052625", "MEDDRA:10080283", "NCIT:C2875", "NCIT:C34387", "SNOMEDCT:105481005", "SNOMEDCT:56882008", "SNOMEDCT:79890006", "medgen:316", "icd11.foundation:263852475", "ICD10:F50.0", "ICD9:307.1", "HP:0002039"], "information_content": 67.6}
{"id": "HP:0003565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated erythrocyte sedimentation rate", "equivalent_identifiers": ["HP:0003565", "UMLS:C0151632", "MEDDRA:10005792", "MEDDRA:10014485", "MEDDRA:10015257", "MEDDRA:10015262", "MEDDRA:10015264", "MEDDRA:10015273", "MEDDRA:10015480", "MEDDRA:10015483", "MEDDRA:10037813", "MEDDRA:10037927", "MEDDRA:10037928", "MEDDRA:10039904", "MEDDRA:10049187", "SNOMEDCT:165468009"], "information_content": 100.0}
{"id": "HP:0002113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary infiltrates", "equivalent_identifiers": ["HP:0002113", "NCIT:C102531", "UMLS:C0235896", "MEDDRA:10025102", "MEDDRA:10025103", "MEDDRA:10037411", "MEDDRA:10037413"], "information_content": 92.8}
{"id": "HP:0005661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Salmonella osteomyelitis", "equivalent_identifiers": ["HP:0005661", "UMLS:C0152491", "MEDDRA:10031262", "MEDDRA:10039440", "SNOMEDCT:6803002"], "information_content": 100.0}
{"id": "HP:0030166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Night sweats", "equivalent_identifiers": ["HP:0030166", "NCIT:C3279", "UMLS:C0028081", "MEDDRA:10029409", "MEDDRA:10029410", "MEDDRA:10052427", "SNOMEDCT:42984000"], "information_content": 73.0}
{"id": "MONDO:0005249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pneumonia", "equivalent_identifiers": ["MONDO:0005249", "DOID:552", "EFO:0003106", "UMLS:C0032285", "MESH:D011014", "MEDDRA:10035664", "MEDDRA:10035725", "MEDDRA:10059809", "MEDDRA:10077942", "NCIT:C3333", "SNOMEDCT:233604007", "medgen:10813", "icd11.foundation:142052508", "HP:0002090"], "information_content": 75.7}
{"id": "HP:0025427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal bronchus physiology", "equivalent_identifiers": ["HP:0025427", "UMLS:C4476771"], "information_content": 95.4}
{"id": "HP:0002923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rheumatoid factor positive", "equivalent_identifiers": ["HP:0002923", "UMLS:C0151379", "MEDDRA:10039080", "SNOMEDCT:165839004"], "information_content": 100.0}
{"id": "HP:0003237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgG concentration", "equivalent_identifiers": ["HP:0003237", "UMLS:C1858977"], "information_content": 79.6}
{"id": "HP:0008802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the femoral head", "equivalent_identifiers": ["HP:0008802", "UMLS:C1856920"], "information_content": 100.0}
{"id": "HP:0001974", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leukocytosis", "equivalent_identifiers": ["HP:0001974", "UMLS:C0023518", "MEDDRA:10024279", "MEDDRA:10024378", "SNOMEDCT:111583006", "MESH:D007964"], "information_content": 78.0}
{"id": "MONDO:0007208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Boomerang dysplasia", "equivalent_identifiers": ["MONDO:0007208", "DOID:0050680", "OMIM:112310", "orphanet:1263", "UMLS:C0432201", "MESH:C536573", "SNOMEDCT:254054000", "medgen:96579", "icd11.foundation:423736259"], "information_content": 100.0}
{"id": "HP:0005104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic nasal septum", "equivalent_identifiers": ["HP:0005104", "UMLS:C1861328"], "information_content": 95.4}
{"id": "HP:0002990", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular aplasia", "equivalent_identifiers": ["HP:0002990", "UMLS:C0265635", "UMLS:C1836186", "MEDDRA:10054882", "SNOMEDCT:1003546000", "SNOMEDCT:74245009"], "information_content": 95.4}
{"id": "HP:0003974", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent radius", "equivalent_identifiers": ["HP:0003974", "UMLS:C1405984", "UMLS:C1838608", "UMLS:C1849314", "SNOMEDCT:1145466009"], "information_content": 90.9}
{"id": "HP:0008824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic iliac body", "equivalent_identifiers": ["HP:0008824", "UMLS:C1849034"], "information_content": 100.0}
{"id": "MONDO:0009300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome 1", "equivalent_identifiers": ["MONDO:0009300", "OMIM:233400", "orphanet:642945", "UMLS:C4551721", "medgen:1640257"], "information_content": 100.0}
{"id": "HP:0000837", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating gonadotropin level", "equivalent_identifiers": ["HP:0000837", "UMLS:C1862265"], "information_content": 90.9}
{"id": "HP:0007141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sensorimotor neuropathy", "equivalent_identifiers": ["HP:0007141", "UMLS:C1112256", "MEDDRA:10056673"], "information_content": 100.0}
{"id": "HP:0007941", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited extraocular movements", "equivalent_identifiers": ["HP:0007941", "UMLS:C1858427"], "information_content": 92.8}
{"id": "MONDO:0010498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEND syndrome", "equivalent_identifiers": ["MONDO:0010498", "DOID:0111865", "OMIM:300960", "orphanet:401973", "UMLS:C4085243", "medgen:905986"], "information_content": 100.0}
{"id": "MONDO:0042981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic stenosis", "equivalent_identifiers": ["MONDO:0042981", "DOID:1712", "EFO:0000266", "UMLS:C0003507", "UMLS:C0155567", "MESH:D001024", "MEDDRA:10002906", "MEDDRA:10002918", "MEDDRA:10039047", "MEDDRA:10041974", "NCIT:C197952", "NCIT:C50462", "NCIT:C64938", "SNOMEDCT:420503003", "SNOMEDCT:60573004", "SNOMEDCT:72011007", "medgen:1621", "icd11.foundation:956813047", "ICD10:I06.0", "ICD10:Q23.0", "ICD9:395.0", "ICD9:746.3", "HP:0001650"], "information_content": 85.5}
{"id": "MONDO:0020373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset anterior polar cataract", "equivalent_identifiers": ["MONDO:0020373", "orphanet:98988", "UMLS:C1855179", "MESH:C538282", "medgen:340806", "HP:0001134"], "information_content": 95.4}
{"id": "HP:0005590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spotty hypopigmentation", "equivalent_identifiers": ["HP:0005590", "UMLS:C3806178"], "information_content": 100.0}
{"id": "HP:0010055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad hallux", "equivalent_identifiers": ["HP:0010055", "UMLS:C1867131"], "information_content": 95.4}
{"id": "MONDO:0009072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dandy-Walker syndrome", "equivalent_identifiers": ["MONDO:0009072", "DOID:2785", "OMIM:220200", "orphanet:217", "EFO:1000890", "UMLS:C0010964", "UMLS:C2931867", "MESH:C538507", "MESH:D003616", "MEDDRA:10048411", "NCIT:C75012", "SNOMEDCT:14447001", "medgen:4150", "icd11.foundation:993088960", "ICD10:Q03.1", "HP:0001305"], "information_content": 85.5}
{"id": "HP:0100807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long fingers", "equivalent_identifiers": ["HP:0100807", "UMLS:C1858091"], "information_content": 92.8}
{"id": "HP:0004736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crossed fused renal ectopia", "equivalent_identifiers": ["HP:0004736", "UMLS:C1835796"], "information_content": 87.2}
{"id": "HP:0001104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular hypoplasia", "equivalent_identifiers": ["HP:0001104", "UMLS:C1849412", "MEDDRA:10088203"], "information_content": 100.0}
{"id": "HP:0000237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small anterior fontanelle", "equivalent_identifiers": ["HP:0000237", "UMLS:C1859455"], "information_content": 100.0}
{"id": "HP:0000472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long neck", "equivalent_identifiers": ["HP:0000472", "UMLS:C1839816"], "information_content": 95.4}
{"id": "HP:0000308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microretrognathia", "equivalent_identifiers": ["HP:0000308", "UMLS:C1839546"], "information_content": 100.0}
{"id": "MONDO:0014593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 29", "equivalent_identifiers": ["MONDO:0014593", "DOID:0080451", "OMIM:616339", "UMLS:C4225361", "medgen:908570"], "information_content": 100.0}
{"id": "MONDO:0004901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lingual-facial-buccal dyskinesia", "equivalent_identifiers": ["MONDO:0004901", "DOID:9854", "UMLS:C0152115", "MEDDRA:10031094", "SNOMEDCT:49386006", "medgen:57747", "ICD10:G24.4", "ICD9:333.82", "HP:0002310"], "information_content": 100.0}
{"id": "MONDO:0001595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorea", "equivalent_identifiers": ["MONDO:0001595", "DOID:12859", "orphanet:1429", "EFO:0004152", "UMLS:C0008489", "UMLS:C4020858", "MESH:D002819", "MEDDRA:10008748", "MEDDRA:10008750", "MEDDRA:10008752", "MEDDRA:10082995", "NCIT:C84633", "SNOMEDCT:230298007", "SNOMEDCT:230306001", "SNOMEDCT:271700006", "medgen:3420", "icd11.foundation:829618737", "HP:0002072"], "information_content": 84.2}
{"id": "HP:0002827", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip dislocation", "equivalent_identifiers": ["HP:0002827", "NCIT:C34698", "UMLS:C0019554", "MEDDRA:10013148", "MEDDRA:10013171", "MEDDRA:10020099", "SNOMEDCT:157265008", "MESH:D006617"], "information_content": 92.8}
{"id": "HP:0003429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomyelination", "equivalent_identifiers": ["HP:0003429", "UMLS:C0544820", "UMLS:C4025616", "SNOMEDCT:111007000"], "information_content": 65.9}
{"id": "MONDO:0011728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharospasm", "equivalent_identifiers": ["MONDO:0011728", "DOID:529", "UMLS:C0005747", "UMLS:C2930898", "MESH:C535428", "MESH:D001764", "MEDDRA:10005159", "MEDDRA:10041384", "MEDDRA:10064261", "NCIT:C118723", "SNOMEDCT:59026006", "medgen:419660", "icd11.foundation:1127235959", "ICD10:G24.5", "ICD9:333.81", "HP:0000643"], "information_content": 95.4}
{"id": "MONDO:0018089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "double outlet right ventricle", "equivalent_identifiers": ["MONDO:0018089", "DOID:6406", "orphanet:3426", "UMLS:C0013069", "UMLS:C3257801", "MESH:D004310", "MEDDRA:10013611", "NCIT:C98916", "SNOMEDCT:204299009", "SNOMEDCT:7484005", "medgen:41649", "icd11.foundation:141717788", "ICD10:Q20.1", "ICD9:745.11", "HP:0001719"], "information_content": 85.5}
{"id": "MONDO:0005852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitral stenosis", "equivalent_identifiers": ["MONDO:0005852", "DOID:1754", "EFO:0007372", "UMLS:C0026269", "MESH:D008946", "MEDDRA:10027719", "MEDDRA:10027733", "NCIT:C50654", "SNOMEDCT:79619009", "medgen:44466", "icd11.foundation:2115139779", "HP:0001718"], "information_content": 88.2}
{"id": "MONDO:0015249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitral atresia", "equivalent_identifiers": ["MONDO:0015249", "orphanet:1205", "UMLS:C0344760", "MEDDRA:10066800", "NCIT:C98992", "SNOMEDCT:23063005", "medgen:91035", "icd11.foundation:6462604", "HP:0011560"], "information_content": 95.4}
{"id": "MONDO:0005463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve calcification", "equivalent_identifiers": ["MONDO:0005463", "EFO:0005239", "UMLS:C0428791", "MESH:C562942", "MEDDRA:10050559", "SNOMEDCT:250978003", "medgen:140899", "HP:0004380"], "information_content": 88.2}
{"id": "MONDO:0009929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "surfactant metabolism dysfunction, pulmonary, 1", "equivalent_identifiers": ["MONDO:0009929", "OMIM:265120", "orphanet:217563", "UMLS:C1968602", "MESH:C566882", "NCIT:C99068", "medgen:368844"], "information_content": 100.0}
{"id": "MONDO:0009887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "desquamative interstitial pneumonia", "equivalent_identifiers": ["MONDO:0009887", "DOID:0050158", "OMIM:263000", "orphanet:98852", "UMLS:C0238378", "UMLS:C5539403", "UMLS:C5539404", "MESH:C562470", "NCIT:C35288", "SNOMEDCT:8549006", "medgen:65962", "icd11.foundation:1620001155", "ICD10:J84.117", "ICD9:516.37", "HP:0005942"], "information_content": 100.0}
{"id": "MONDO:0001437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary alveolar proteinosis", "equivalent_identifiers": ["MONDO:0001437", "DOID:12120", "UMLS:C0034050", "UMLS:C5400698", "MESH:D011649", "MEDDRA:10001881", "MEDDRA:10037316", "NCIT:C85037", "SNOMEDCT:10501004", "medgen:1763046", "icd11.foundation:1869739196", "ICD10:J84.01", "ICD9:516.0", "HP:0006517"], "information_content": 83.1}
{"id": "HP:0025179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ground-glass opacification", "equivalent_identifiers": ["HP:0025179", "NCIT:C113718", "UMLS:C4476639", "UMLS:C5539411", "SNOMEDCT:1217294009"], "information_content": 90.9}
{"id": "HP:0032981", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent bronchoalveolar dimeric surfactant-protein B", "equivalent_identifiers": ["HP:0032981", "UMLS:C5397973"], "information_content": 100.0}
{"id": "HP:0030879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interlobular septal thickening", "equivalent_identifiers": ["HP:0030879", "UMLS:C4280727", "UMLS:C5539418"], "information_content": 90.9}
{"id": "HP:0033186", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Misalignment of the pulmonary veins", "equivalent_identifiers": ["HP:0033186", "UMLS:C5421670"], "information_content": 100.0}
{"id": "HP:0000961", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cyanosis", "equivalent_identifiers": ["HP:0000961", "NCIT:C26737", "UMLS:C0010520", "MEDDRA:10011702", "MEDDRA:10011703", "MEDDRA:10011706", "SNOMEDCT:119419001", "SNOMEDCT:3415004", "MESH:D003490"], "information_content": 85.5}
{"id": "MONDO:0020788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomagnesemia, seizures, and intellectual disability 2", "equivalent_identifiers": ["MONDO:0020788", "OMIM:618314", "UMLS:C5193023", "medgen:1675904"], "information_content": 100.0}
{"id": "MONDO:0001567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrocalcinosis", "equivalent_identifiers": ["MONDO:0001567", "DOID:12679", "UMLS:C0027709", "UMLS:C4280679", "MESH:D009397", "MEDDRA:10006939", "MEDDRA:10029146", "MEDDRA:10083509", "NCIT:C84918", "SNOMEDCT:48638002", "medgen:10222", "icd11.foundation:1359282431", "HP:0000121"], "information_content": 89.4}
{"id": "MONDO:0014875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperaldosteronism, familial, type IV", "equivalent_identifiers": ["MONDO:0014875", "OMIM:617027", "orphanet:642671", "UMLS:C4310756", "SNOMEDCT:1351276005", "medgen:934723"], "information_content": 100.0}
{"id": "MONDO:0003009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperaldosteronism", "equivalent_identifiers": ["MONDO:0003009", "DOID:446", "EFO:0009452", "UMLS:C0020428", "MESH:D006929", "MEDDRA:10001656", "MEDDRA:10001657", "MEDDRA:10020571", "MEDDRA:10075916", "NCIT:C113213", "SNOMEDCT:88213004", "medgen:6960", "icd11.foundation:1937534076", "ICD10:E24", "ICD10:E26", "ICD9:255.0", "ICD9:255.1", "HP:0000859"], "information_content": 84.2}
{"id": "HP:6000318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated aldosterone:renin ratio", "equivalent_identifiers": ["HP:6000318", "UMLS:C5937119"], "information_content": 100.0}
{"id": "MONDO:0009219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fascial dystrophy, congenital", "equivalent_identifiers": ["MONDO:0009219", "OMIM:228020", "UMLS:C1302740", "MESH:C563219", "SNOMEDCT:399948007", "medgen:226997"], "information_content": 100.0}
{"id": "HP:0001376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limitation of joint mobility", "equivalent_identifiers": ["HP:0001376", "UMLS:C1857108"], "information_content": 73.8}
{"id": "HP:0005750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower-limb joint contracture", "equivalent_identifiers": ["HP:0005750", "UMLS:C1859523"], "information_content": 75.8}
{"id": "HP:0002086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the respiratory system", "equivalent_identifiers": ["HP:0002086", "UMLS:C4018871"], "information_content": 51.2}
{"id": "HP:0000765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thorax morphology", "equivalent_identifiers": ["HP:0000765", "UMLS:C4021797"], "information_content": 61.9}
{"id": "MONDO:0005093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin disorder", "equivalent_identifiers": ["MONDO:0005093", "DOID:37", "EFO:0000701", "UMLS:C0029574", "UMLS:C0037268", "UMLS:C0037274", "UMLS:C5848159", "MESH:D012868", "MESH:D012871", "MEDDRA:10040831", "MEDDRA:10040833", "MEDDRA:10040888", "MEDDRA:10048768", "MEDDRA:10067769", "MEDDRA:10087776", "NCIT:C27554", "NCIT:C3371", "NCIT:C97174", "SNOMEDCT:199879009", "SNOMEDCT:95320005", "medgen:20777", "ICD9:702", "HP:0000951"], "information_content": 49.8}
{"id": "MONDO:0014284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 10 with or without polydactyly", "equivalent_identifiers": ["MONDO:0014284", "DOID:0110091", "OMIM:615630", "UMLS:C3810175", "medgen:816505"], "information_content": 100.0}
{"id": "MONDO:0005300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic kidney disease", "equivalent_identifiers": ["MONDO:0005300", "DOID:784", "EFO:0003884", "UMLS:C0748318", "UMLS:C1561643", "MESH:D007676", "MEDDRA:10036812", "MEDDRA:10064848", "NCIT:C80078", "SNOMEDCT:709044004", "medgen:473458", "icd11.foundation:412389819", "ICD10:N18.9", "HP:0012622"], "information_content": 82.1}
{"id": "HP:0010230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the phalanges of the hand", "equivalent_identifiers": ["HP:0010230", "UMLS:C1859480"], "information_content": 78.8}
{"id": "HP:0000895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hooked clavicle", "equivalent_identifiers": ["HP:0000895", "UMLS:C0426805", "SNOMEDCT:249684000"], "information_content": 100.0}
{"id": "HP:0000773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short ribs", "equivalent_identifiers": ["HP:0000773", "UMLS:C0426817", "SNOMEDCT:249696007"], "information_content": 90.9}
{"id": "HP:0003026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short long bone", "equivalent_identifiers": ["HP:0003026", "UMLS:C1854912"], "information_content": 70.1}
{"id": "MONDO:0017426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial polydactyly of fingers", "equivalent_identifiers": ["MONDO:0017426", "UMLS:C0431904", "SNOMEDCT:205131007", "medgen:609221", "icd11.foundation:1146378807", "HP:0001162"], "information_content": 90.9}
{"id": "MONDO:0019005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis", "equivalent_identifiers": ["MONDO:0019005", "DOID:12712", "OMIM.PS:256100", "orphanet:655", "UMLS:C0687120", "MEDDRA:10066248", "NCIT:C123200", "SNOMEDCT:204958008", "medgen:146912", "icd11.foundation:158151813", "HP:0000090"], "information_content": 80.6}
{"id": "HP:0040270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired glucose tolerance", "equivalent_identifiers": ["HP:0040270", "UMLS:C0151671", "MEDDRA:10018428", "MEDDRA:10043931", "MP:0005291"], "information_content": 79.9}
{"id": "MONDO:0016044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orofacial cleft", "equivalent_identifiers": ["MONDO:0016044", "orphanet:199306", "UMLS:C0158646", "UMLS:C4021813", "MEDDRA:10009260", "MEDDRA:10009261", "MEDDRA:10009271", "MEDDRA:10009273", "MEDDRA:10009278", "MEDDRA:10024533", "MEDDRA:10033528", "SNOMEDCT:253983005", "SNOMEDCT:66948001", "medgen:57640", "HP:0000202"], "information_content": 71.6}
{"id": "HP:0006644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic dysplasia", "equivalent_identifiers": ["HP:0006644", "UMLS:C1406921"], "information_content": 100.0}
{"id": "MONDO:0001076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucose intolerance", "equivalent_identifiers": ["MONDO:0001076", "DOID:10603", "EFO:0002546", "UMLS:C0235401", "UMLS:C0271650", "MESH:D018149", "MEDDRA:10000137", "MEDDRA:10008423", "MEDDRA:10018426", "MEDDRA:10018429", "MEDDRA:10024016", "MEDDRA:10052426", "NCIT:C34646", "SNOMEDCT:267426009", "SNOMEDCT:9414007", "medgen:75760", "icd11.foundation:1392580302", "ICD10:R73.03", "HP:0001952"], "information_content": 80.9}
{"id": "MONDO:0013200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 15", "equivalent_identifiers": ["MONDO:0013200", "DOID:0110321", "OMIM:613255", "UMLS:C2750459", "MESH:C567681", "medgen:413312"], "information_content": 100.0}
{"id": "HP:0031319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiomyocyte hypertrophy", "equivalent_identifiers": ["HP:0031319", "UMLS:C4227331"], "information_content": 100.0}
{"id": "HP:0034313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperdynamic left ventricular ejection fraction", "equivalent_identifiers": ["HP:0034313", "UMLS:C5706160"], "information_content": 100.0}
{"id": "HP:0031992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apical hypertrophic cardiomyopathy", "equivalent_identifiers": ["HP:0031992", "UMLS:C4732796", "SNOMEDCT:1204194004", "MESH:D000092183"], "information_content": 100.0}
{"id": "MONDO:0006746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endomyocardial fibrosis", "equivalent_identifiers": ["MONDO:0006746", "DOID:12932", "EFO:1000921", "UMLS:C0014183", "UMLS:C0553980", "UMLS:C1959600", "MESH:D004719", "MEDDRA:10014664", "MEDDRA:10014800", "MEDDRA:10016645", "MEDDRA:10029891", "NCIT:C34585", "SNOMEDCT:398716006", "SNOMEDCT:398754006", "medgen:107513", "icd11.foundation:365224859", "ICD9:425.0", "HP:0006685"], "information_content": 95.4}
{"id": "HP:0032092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left ventricular outflow tract obstruction", "equivalent_identifiers": ["HP:0032092", "NCIT:C99126", "UMLS:C0023213", "SNOMEDCT:253546004", "MESH:D000092242"], "information_content": 100.0}
{"id": "MONDO:0008377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 1", "equivalent_identifiers": ["MONDO:0008377", "DOID:0110390", "OMIM:180100", "UMLS:C0220701", "MESH:C538365", "medgen:67395"], "information_content": 100.0}
{"id": "HP:0007737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone spicule pigmentation of the retina", "equivalent_identifiers": ["HP:0007737", "UMLS:C1836926"], "information_content": 100.0}
{"id": "HP:0007688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undetectable light- and dark-adapted electroretinogram", "equivalent_identifiers": ["HP:0007688", "UMLS:C4021570"], "information_content": 100.0}
{"id": "HP:0007843", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Attenuation of retinal blood vessels", "equivalent_identifiers": ["HP:0007843", "UMLS:C3278975"], "information_content": 100.0}
{"id": "MONDO:0004758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scotoma", "equivalent_identifiers": ["MONDO:0004758", "DOID:9335", "UMLS:C0029657", "UMLS:C0036454", "UMLS:C0344233", "MESH:D012607", "MEDDRA:10039729", "NCIT:C118737", "SNOMEDCT:23388006", "SNOMEDCT:81016008", "medgen:19902", "ICD10:H53.42", "ICD10:H53.45", "ICD9:368.42", "ICD9:368.44", "HP:0000575"], "information_content": 86.3}
{"id": "MONDO:0007086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Alport syndrome", "equivalent_identifiers": ["MONDO:0007086", "DOID:0110032", "OMIM:104200", "orphanet:88918", "UMLS:C1567743", "UMLS:C5882663", "SNOMEDCT:717766000", "medgen:1848787"], "information_content": 100.0}
{"id": "HP:0002157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Azotemia", "equivalent_identifiers": ["HP:0002157", "UMLS:C0242528", "MEDDRA:10003885", "MEDDRA:10003886", "SNOMEDCT:445009001", "MESH:D053099"], "information_content": 64.3}
{"id": "MONDO:0002462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomerulonephritis", "equivalent_identifiers": ["MONDO:0002462", "DOID:2921", "UMLS:C0017658", "MESH:D005921", "MEDDRA:10018364", "MEDDRA:10018375", "MEDDRA:10029143", "NCIT:C26784", "SNOMEDCT:36171008", "medgen:6616", "HP:0000099"], "information_content": 72.3}
{"id": "MONDO:0001166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephritis", "equivalent_identifiers": ["MONDO:0001166", "DOID:10952", "EFO:1002050", "UMLS:C0027697", "MESH:D009393", "MEDDRA:10029117", "MEDDRA:10029138", "NCIT:C26833", "SNOMEDCT:52845002", "medgen:14328", "ICD10:N08", "HP:0000123"], "information_content": 71.9}
{"id": "HP:0030034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular basement membrane lamellation", "equivalent_identifiers": ["HP:0030034", "UMLS:C3278307", "UMLS:C5539416"], "information_content": 100.0}
{"id": "HP:0000790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hematuria", "equivalent_identifiers": ["HP:0000790", "NCIT:C3090", "UMLS:C0018965", "UMLS:C4476526", "MEDDRA:10018867", "MEDDRA:10019450", "SNOMEDCT:34436003", "SNOMEDCT:53298000", "MESH:D006417"], "information_content": 60.8}
{"id": "HP:0001142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lenticonus", "equivalent_identifiers": ["HP:0001142", "UMLS:C0239119", "SNOMEDCT:253221000"], "information_content": 92.8}
{"id": "HP:0002907", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microscopic hematuria", "equivalent_identifiers": ["HP:0002907", "UMLS:C0239937", "MEDDRA:10018869", "MEDDRA:10027552", "MEDDRA:10046563", "MEDDRA:10059824", "MEDDRA:10060605", "SNOMEDCT:197940006"], "information_content": 100.0}
{"id": "MONDO:0000313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemia", "equivalent_identifiers": ["MONDO:0000313", "DOID:0050336", "UMLS:C0085682", "UMLS:C0595888", "MESH:D017674", "MEDDRA:10021058", "MEDDRA:10021059", "MEDDRA:10040370", "NCIT:C37977", "SNOMEDCT:4996001", "medgen:39327", "HP:0002148"], "information_content": 80.2}
{"id": "HP:0004722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened glomerular basement membrane", "equivalent_identifiers": ["HP:0004722", "UMLS:C0445347", "SNOMEDCT:264932002"], "information_content": 89.4}
{"id": "MONDO:0012594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement factor I deficiency", "equivalent_identifiers": ["MONDO:0012594", "DOID:0050419", "OMIM:610984", "orphanet:200418", "UMLS:C3463916", "MESH:C572568", "SNOMEDCT:234621005", "medgen:483045"], "information_content": 100.0}
{"id": "HP:0005369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement factor H concentration", "equivalent_identifiers": ["HP:0005369", "UMLS:C1969222"], "information_content": 95.4}
{"id": "HP:0006946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent meningitis", "equivalent_identifiers": ["HP:0006946", "UMLS:C0746495"], "information_content": 95.4}
{"id": "HP:0005356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement factor I concentration", "equivalent_identifiers": ["HP:0005356", "UMLS:C1970257"], "information_content": 100.0}
{"id": "HP:0005366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent streptococcus pneumoniae infections", "equivalent_identifiers": ["HP:0005366", "UMLS:C2169794"], "information_content": 100.0}
{"id": "HP:0005421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement C3 concentration", "equivalent_identifiers": ["HP:0005421", "UMLS:C1837512"], "information_content": 100.0}
{"id": "HP:0005376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent Haemophilus influenzae infections", "equivalent_identifiers": ["HP:0005376", "UMLS:C4025204"], "information_content": 100.0}
{"id": "HP:0001581", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent skin infections", "equivalent_identifiers": ["HP:0001581", "UMLS:C1853193", "SNOMEDCT:736979001"], "information_content": 79.3}
{"id": "MONDO:0042485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infected joint", "equivalent_identifiers": ["MONDO:0042485", "UMLS:C0003869", "UMLS:C3891815", "UMLS:C4280547", "MEDDRA:10003259", "MEDDRA:10003266", "MEDDRA:10003272", "MEDDRA:10021904", "MEDDRA:10021915", "MEDDRA:10037631", "MEDDRA:10037638", "MEDDRA:10040057", "MEDDRA:10040062", "MEDDRA:10045948", "MEDDRA:10045958", "MEDDRA:10060968", "MEDDRA:10073464", "NCIT:C118475", "NCIT:C26700", "SNOMEDCT:372939007", "SNOMEDCT:396234004", "medgen:13918", "HP:0003095"], "information_content": 84.2}
{"id": "HP:0005381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent meningococcal disease", "equivalent_identifiers": ["HP:0005381", "UMLS:C1970263"], "information_content": 100.0}
{"id": "MONDO:0006939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyelonephritis", "equivalent_identifiers": ["MONDO:0006939", "DOID:11400", "EFO:1001141", "UMLS:C0034186", "MESH:D011704", "MEDDRA:10037596", "MEDDRA:10037604", "MEDDRA:10037606", "NCIT:C34965", "SNOMEDCT:45816000", "medgen:19590", "ICD10:N16", "ICD9:590.80", "HP:0012330"], "information_content": 89.4}
{"id": "HP:0005416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement factor B concentration", "equivalent_identifiers": ["HP:0005416", "UMLS:C4021636"], "information_content": 100.0}
{"id": "MONDO:0018882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vasculitis", "equivalent_identifiers": ["MONDO:0018882", "DOID:865", "orphanet:52759", "EFO:0006803", "UMLS:C0042384", "MESH:D014657", "MEDDRA:10002369", "MEDDRA:10047112", "MEDDRA:10047115", "MEDDRA:10047128", "NCIT:C26912", "SNOMEDCT:31996006", "medgen:12054", "icd11.foundation:572581721", "HP:0002633"], "information_content": 72.9}
{"id": "MONDO:0009658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MPS III D", "equivalent_identifiers": ["MONDO:0009658", "DOID:0111402", "OMIM:252940", "orphanet:79272", "UMLS:C0086650", "NCIT:C84900", "SNOMEDCT:15892005", "medgen:88602", "icd11.foundation:1780990193"], "information_content": 100.0}
{"id": "HP:0003309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ovoid thoracolumbar vertebrae", "equivalent_identifiers": ["HP:0003309", "UMLS:C1868556"], "information_content": 100.0}
{"id": "HP:0000711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restlessness", "equivalent_identifiers": ["HP:0000711", "NCIT:C117168", "NCIT:C74533", "UMLS:C0700075", "UMLS:C3887611", "MEDDRA:10026838", "MEDDRA:10028006", "MEDDRA:10038740", "MEDDRA:10038743", "MEDDRA:10038746", "SNOMEDCT:162221009"], "information_content": 92.8}
{"id": "HP:0000713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agitation", "equivalent_identifiers": ["HP:0000713", "NCIT:C117164", "NCIT:C79530", "UMLS:C0085631", "UMLS:C3887612", "MEDDRA:10001495", "MEDDRA:10001497", "MEDDRA:10015628", "MEDDRA:10037211", "MEDDRA:10037212", "MEDDRA:10056436", "SNOMEDCT:24199005", "SNOMEDCT:47295007", "MESH:D011595"], "information_content": 95.4}
{"id": "HP:0001387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joint stiffness", "equivalent_identifiers": ["HP:0001387", "NCIT:C79603", "UMLS:C0162298", "MEDDRA:10023230", "MEDDRA:10042041", "MEDDRA:10042047", "MEDDRA:10059879", "SNOMEDCT:84445001"], "information_content": 80.6}
{"id": "HP:4000198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000198", "UMLS:C5872947"], "information_content": 100.0}
{"id": "HP:0002788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent upper respiratory tract infections", "equivalent_identifiers": ["HP:0002788", "UMLS:C0581381", "SNOMEDCT:195708003"], "information_content": 88.2}
{"id": "HP:0002943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic scoliosis", "equivalent_identifiers": ["HP:0002943", "UMLS:C1857790", "MEDDRA:10085809"], "information_content": 95.4}
{"id": "HP:0000187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad alveolar ridges", "equivalent_identifiers": ["HP:0000187", "UMLS:C1857500", "UMLS:C4280675"], "information_content": 95.4}
{"id": "HP:0003653", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cellular metachromasia", "equivalent_identifiers": ["HP:0003653", "UMLS:C4025583"], "information_content": 95.4}
{"id": "HP:0031849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleep-wake inversion", "equivalent_identifiers": ["HP:0031849", "UMLS:C0338497", "SNOMEDCT:192008004"], "information_content": 100.0}
{"id": "MONDO:0008647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 1", "equivalent_identifiers": ["MONDO:0008647", "DOID:0110307", "OMIM:192600", "UMLS:C0205700", "UMLS:C0700053", "UMLS:C3495498", "MESH:C566005", "MEDDRA:10021230", "MEDDRA:10021280", "NCIT:C172092", "medgen:501195", "HP:0001670"], "information_content": 100.0}
{"id": "MONDO:0000495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oppositional defiant disorder", "equivalent_identifiers": ["MONDO:0000495", "DOID:0050856", "UMLS:C0029121", "UMLS:C0236964", "MESH:D000096865", "MESH:D019958", "MEDDRA:10003730", "MEDDRA:10056440", "NCIT:C92565", "SNOMEDCT:18941000", "medgen:18178", "icd11.foundation:1487528823", "HP:0010865"], "information_content": 100.0}
{"id": "HP:0008479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic vertebral bodies", "equivalent_identifiers": ["HP:0008479", "UMLS:C1863353"], "information_content": 89.4}
{"id": "HP:0001348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brisk reflexes", "equivalent_identifiers": ["HP:0001348", "UMLS:C2673700"], "information_content": 100.0}
{"id": "HP:0002159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heparan sulfate excretion in urine", "equivalent_identifiers": ["HP:0002159", "UMLS:C1854827"], "information_content": 100.0}
{"id": "MONDO:0011758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hurler syndrome", "equivalent_identifiers": ["MONDO:0011758", "DOID:0111390", "OMIM:607014", "orphanet:93473", "UMLS:C0086795", "UMLS:C5848292", "MEDDRA:10020470", "MEDDRA:10020471", "MEDDRA:10028048", "NCIT:C61261", "SNOMEDCT:254069004", "SNOMEDCT:65327002", "medgen:39698", "ICD10:E76.01", "HP:0000943"], "information_content": 100.0}
{"id": "HP:0000900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened ribs", "equivalent_identifiers": ["HP:0000900", "UMLS:C0426820", "SNOMEDCT:249699000"], "information_content": 100.0}
{"id": "MONDO:0007975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meralgia paraesthetica, familial", "equivalent_identifiers": ["MONDO:0007975", "OMIM:156220", "UMLS:C1835026", "MESH:C563590", "medgen:322555"], "information_content": 100.0}
{"id": "MONDO:0002320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital nervous system disorder", "equivalent_identifiers": ["MONDO:0002320", "DOID:2490", "UMLS:C0158538", "UMLS:C0497552", "UMLS:C4531023", "NCIT:C97172", "SNOMEDCT:88425004", "medgen:105425", "ICD9:742", "HP:0000707"], "information_content": 40.4}
{"id": "MONDO:0032664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 40", "equivalent_identifiers": ["MONDO:0032664", "DOID:0111853", "OMIM:618300", "UMLS:C4749028", "medgen:1648365"], "information_content": 100.0}
{"id": "MONDO:0004514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic rhinitis", "equivalent_identifiers": ["MONDO:0004514", "DOID:8252", "UMLS:C0008711", "MEDDRA:10009129", "NCIT:C34479", "SNOMEDCT:86094006", "medgen:3086", "icd11.foundation:1346915097", "ICD10:J31.0", "ICD9:472.0", "HP:0002257"], "information_content": 90.9}
{"id": "HP:0033036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased nasal nitric oxide", "equivalent_identifiers": ["HP:0033036", "UMLS:C3554430"], "information_content": 100.0}
{"id": "HP:0033158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced respiratory ciliary beating frequency", "equivalent_identifiers": ["HP:0033158", "UMLS:C5421649"], "information_content": 100.0}
{"id": "MONDO:0006031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic rhinosinusitis", "equivalent_identifiers": ["MONDO:0006031", "EFO:1000024", "UMLS:C0149516", "UMLS:C0748720", "MEDDRA:10009137", "MEDDRA:10009141", "MEDDRA:10040755", "MEDDRA:10046164", "NCIT:C35151", "SNOMEDCT:40055000", "SNOMEDCT:897657000", "medgen:101751", "icd11.foundation:1836987572", "HP:0011109"], "information_content": 89.4}
{"id": "HP:0031854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left Isomerism", "equivalent_identifiers": ["HP:0031854", "UMLS:C4703575"], "information_content": 95.4}
{"id": "HP:0011579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unbalanced atrioventricular canal defect", "equivalent_identifiers": ["HP:0011579", "UMLS:C3280940"], "information_content": 100.0}
{"id": "HP:0012256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent outer dynein arms", "equivalent_identifiers": ["HP:0012256", "UMLS:C4022989"], "information_content": 95.4}
{"id": "MONDO:0016301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenitally corrected transposition of the great arteries", "equivalent_identifiers": ["MONDO:0016301", "orphanet:216694", "UMLS:C0232301", "UMLS:C0344616", "UMLS:C3274488", "MESH:D000080041", "MEDDRA:10011120", "NCIT:C98902", "SNOMEDCT:56743000", "SNOMEDCT:83799000", "medgen:87489", "icd11.foundation:254915185", "ICD10:Q20.5", "HP:0011540"], "information_content": 100.0}
{"id": "HP:0011671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interrupted inferior vena cava with azygous continuation", "equivalent_identifiers": ["HP:0011671", "UMLS:C4023237"], "information_content": 100.0}
{"id": "MONDO:0020417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "right aortic arch", "equivalent_identifiers": ["MONDO:0020417", "orphanet:99081", "UMLS:C0035615", "MEDDRA:10067407", "NCIT:C103917", "SNOMEDCT:111321007", "SNOMEDCT:244229003", "medgen:48474", "icd11.foundation:769265824", "HP:0012020"], "information_content": 89.4}
{"id": "MONDO:0005047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infertility", "equivalent_identifiers": ["MONDO:0005047", "DOID:5223", "EFO:0000545", "UMLS:C0021359", "UMLS:C1533568", "UMLS:C4074771", "MESH:D007246", "MEDDRA:10021926", "MEDDRA:10021930", "MEDDRA:10042012", "NCIT:C3836", "SNOMEDCT:15296000", "SNOMEDCT:8619003", "medgen:43876", "HP:0000789"], "information_content": 63.5}
{"id": "MONDO:0010676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, Hemizygous lethal type", "equivalent_identifiers": ["MONDO:0010676", "OMIM:309950", "UMLS:C1839671", "MESH:C564097", "medgen:326552"], "information_content": 100.0}
{"id": "MONDO:0016971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limb-girdle muscular dystrophy", "equivalent_identifiers": ["MONDO:0016971", "DOID:11724", "orphanet:263", "EFO:0010955", "UMLS:C0686353", "MESH:D049288", "NCIT:C84828", "SNOMEDCT:240046001", "SNOMEDCT:78468005", "SNOMEDCT:93153005", "medgen:151940", "medgen:CN221288", "icd11.foundation:887807212", "ICD10:G71.03", "HP:0006785"], "information_content": 75.0}
{"id": "MONDO:0060596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "equivalent_identifiers": ["MONDO:0060596", "DOID:0070514", "OMIM:617755", "orphanet:686482", "UMLS:C4540327", "medgen:1627464"], "information_content": 100.0}
{"id": "HP:0033142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long nasal bridge", "equivalent_identifiers": ["HP:0033142", "UMLS:C1834320"], "information_content": 100.0}
{"id": "MONDO:0008482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sprengel deformity", "equivalent_identifiers": ["MONDO:0008482", "OMIM:184400", "orphanet:3181", "UMLS:C0152438", "MESH:C535802", "MEDDRA:10010455", "MEDDRA:10088159", "SNOMEDCT:79120002", "medgen:56291", "icd11.foundation:2144522441", "HP:0000912"], "information_content": 100.0}
{"id": "HP:0004632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical segmentation defect", "equivalent_identifiers": ["HP:0004632", "UMLS:C1862415"], "information_content": 100.0}
{"id": "HP:0008952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder muscle hypoplasia", "equivalent_identifiers": ["HP:0008952", "UMLS:C1969001"], "information_content": 86.3}
{"id": "HP:0008984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck muscle hypoplasia", "equivalent_identifiers": ["HP:0008984", "UMLS:C1969000", "UMLS:C4280408", "UMLS:C4280409"], "information_content": 100.0}
{"id": "HP:0006655", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rib segmentation abnormalities", "equivalent_identifiers": ["HP:0006655", "UMLS:C1968999"], "information_content": 100.0}
{"id": "MONDO:0011694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 15/16", "equivalent_identifiers": ["MONDO:0011694", "DOID:0050965", "OMIM:606658", "orphanet:98769", "UMLS:C1847725", "MESH:C564685", "NCIT:C150250", "SNOMEDCT:716724006", "medgen:338301"], "information_content": 100.0}
{"id": "HP:0002345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Action tremor", "equivalent_identifiers": ["HP:0002345", "NCIT:C183162", "UMLS:C0234376", "UMLS:C4020853", "MEDDRA:10072413", "SNOMEDCT:30721006"], "information_content": 81.3}
{"id": "HP:0007979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaze-evoked horizontal nystagmus", "equivalent_identifiers": ["HP:0007979", "UMLS:C1853394"], "information_content": 100.0}
{"id": "HP:0000640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaze-evoked nystagmus", "equivalent_identifiers": ["HP:0000640", "UMLS:C0271390", "UMLS:C5574666", "MEDDRA:10077413", "SNOMEDCT:1220537002", "SNOMEDCT:29356006"], "information_content": 95.4}
{"id": "HP:0031629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired tandem gait", "equivalent_identifiers": ["HP:0031629", "UMLS:C3275367"], "information_content": 100.0}
{"id": "HP:0008278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar cortical atrophy", "equivalent_identifiers": ["HP:0008278", "UMLS:C4024710"], "information_content": 100.0}
{"id": "HP:0006855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar vermis atrophy", "equivalent_identifiers": ["HP:0006855", "UMLS:C0742028"], "information_content": 100.0}
{"id": "HP:0000571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypometric saccades", "equivalent_identifiers": ["HP:0000571", "UMLS:C0423082", "SNOMEDCT:246768008"], "information_content": 92.8}
{"id": "HP:0002174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postural tremor", "equivalent_identifiers": ["HP:0002174", "UMLS:C0234378", "MEDDRA:10073211", "SNOMEDCT:56610005"], "information_content": 95.4}
{"id": "MONDO:0006497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral palsy", "equivalent_identifiers": ["MONDO:0006497", "DOID:1969", "EFO:1000632", "UMLS:C0007789", "MESH:D002547", "MEDDRA:10008129", "MEDDRA:10033560", "NCIT:C34460", "SNOMEDCT:128188000", "medgen:854", "icd11.foundation:76906748", "ICD10:G80", "HP:0100021"], "information_content": 80.6}
{"id": "HP:0012758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurodevelopmental delay", "equivalent_identifiers": ["HP:0012758", "UMLS:C4022738", "MEDDRA:10088444"], "information_content": 76.7}
{"id": "HP:0100660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyskinesia", "equivalent_identifiers": ["HP:0100660", "NCIT:C50539", "UMLS:C0013384", "MEDDRA:10013916", "MEDDRA:10013930", "MEDDRA:10042802", "SNOMEDCT:9748009", "MESH:D020820"], "information_content": 90.9}
{"id": "HP:0007772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired smooth pursuit", "equivalent_identifiers": ["HP:0007772", "UMLS:C1837458", "UMLS:C1848530"], "information_content": 92.8}
{"id": "HP:0002406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb dysmetria", "equivalent_identifiers": ["HP:0002406", "UMLS:C1854489", "UMLS:C4280577"], "information_content": 92.8}
{"id": "HP:0000641", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysmetric saccades", "equivalent_identifiers": ["HP:0000641", "UMLS:C1836392"], "information_content": 92.8}
{"id": "HP:0007338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermetric saccades", "equivalent_identifiers": ["HP:0007338", "UMLS:C0423083", "SNOMEDCT:246769000"], "information_content": 92.8}
{"id": "MONDO:0007036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achard syndrome", "equivalent_identifiers": ["MONDO:0007036", "DOID:6686", "OMIM:100700", "UMLS:C1332135", "MESH:C536012", "NCIT:C35809", "medgen:272277"], "information_content": 100.0}
{"id": "HP:0002682", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad skull", "equivalent_identifiers": ["HP:0002682", "UMLS:C0424693", "SNOMEDCT:248374004"], "information_content": 100.0}
{"id": "MONDO:0011364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 16", "equivalent_identifiers": ["MONDO:0011364", "DOID:0110471", "OMIM:603720", "UMLS:C1863561", "MESH:C566339", "medgen:350211"], "information_content": 100.0}
{"id": "MONDO:0007615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laurin-Sandrow syndrome", "equivalent_identifiers": ["MONDO:0007615", "DOID:0111350", "OMIM:135750", "orphanet:2378", "UMLS:C1851100", "UMLS:C1851101", "UMLS:C5700308", "MESH:C535689", "SNOMEDCT:1255267007", "SNOMEDCT:715440003", "medgen:340697", "icd11.foundation:671594481", "HP:0010689"], "information_content": 92.8}
{"id": "HP:0000271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the face", "equivalent_identifiers": ["HP:0000271", "UMLS:C1290857", "UMLS:C4025871", "SNOMEDCT:118930001"], "information_content": 44.3}
{"id": "HP:0001161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand polydactyly", "equivalent_identifiers": ["HP:0001161", "UMLS:C0158733", "MEDDRA:10036064", "SNOMEDCT:81793007"], "information_content": 74.5}
{"id": "HP:0006443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patellar aplasia", "equivalent_identifiers": ["HP:0006443", "UMLS:C1868578", "SNOMEDCT:737219008"], "information_content": 95.4}
{"id": "HP:0009556", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent tibia", "equivalent_identifiers": ["HP:0009556", "UMLS:C3276744", "SNOMEDCT:1145471002"], "information_content": 100.0}
{"id": "HP:0010503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular duplication", "equivalent_identifiers": ["HP:0010503", "UMLS:C3276742"], "information_content": 100.0}
{"id": "MONDO:0030781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restrictive dermopathy 2", "equivalent_identifiers": ["MONDO:0030781", "DOID:0070370", "OMIM:619793", "UMLS:C5676942", "medgen:1801155"], "information_content": 100.0}
{"id": "HP:0002692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic facial bones", "equivalent_identifiers": ["HP:0002692", "UMLS:C1846438", "UMLS:C4229090", "UMLS:C4280268", "UMLS:C4280557", "UMLS:C4280558"], "information_content": 75.3}
{"id": "HP:0001072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened skin", "equivalent_identifiers": ["HP:0001072", "UMLS:C0241165", "UMLS:C0334008", "UMLS:C4020878", "MEDDRA:10040936", "MEDDRA:10079673", "SNOMEDCT:17417006", "SNOMEDCT:271815000", "SNOMEDCT:69943009"], "information_content": 71.1}
{"id": "HP:0006391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overtubulated long bones", "equivalent_identifiers": ["HP:0006391", "UMLS:C1848769"], "information_content": 100.0}
{"id": "MONDO:0019340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scleroderma", "equivalent_identifiers": ["MONDO:0019340", "DOID:419", "orphanet:801", "EFO:1001993", "UMLS:C0011644", "UMLS:C1274865", "MEDDRA:10012517", "MEDDRA:10039710", "NCIT:C26746", "SNOMEDCT:267874003", "SNOMEDCT:403524003", "medgen:3770", "HP:0100324"], "information_content": 81.7}
{"id": "HP:0000444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Convex nasal ridge", "equivalent_identifiers": ["HP:0000444", "UMLS:C0240538"], "information_content": 100.0}
{"id": "MONDO:0008024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 7A", "equivalent_identifiers": ["MONDO:0008024", "OMIM:158580", "UMLS:C1834703", "MESH:C563562", "medgen:322474"], "information_content": 100.0}
{"id": "HP:0030205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased jitter at single fiber EMG", "equivalent_identifiers": ["HP:0030205", "UMLS:C4021045"], "information_content": 100.0}
{"id": "HP:0040131", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal motor nerve conduction velocity", "equivalent_identifiers": ["HP:0040131", "UMLS:C4021031"], "information_content": 90.9}
{"id": "HP:0001605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vocal cord paralysis", "equivalent_identifiers": ["HP:0001605", "NCIT:C47814", "UMLS:C0042928", "UMLS:C0086523", "UMLS:C1854345", "MEDDRA:10023886", "MEDDRA:10033836", "MEDDRA:10046089", "MEDDRA:10047674", "MEDDRA:10078852", "SNOMEDCT:302912005", "SNOMEDCT:89927005", "MESH:D014826"], "information_content": 80.6}
{"id": "HP:0001604", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vocal cord paresis", "equivalent_identifiers": ["HP:0001604", "UMLS:C0751576", "UMLS:C1832690", "UMLS:C1843187", "UMLS:C1853729", "MEDDRA:10049234", "SNOMEDCT:445424004"], "information_content": 92.8}
{"id": "MONDO:0008349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ciuffo Syndrome", "equivalent_identifiers": ["MONDO:0008349", "OMIM:178650", "UMLS:C1867407", "MESH:C566733", "medgen:357274"], "information_content": 100.0}
{"id": "HP:0003115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal EKG", "equivalent_identifiers": ["HP:0003115", "NCIT:C168100", "UMLS:C0522055", "MEDDRA:10000126", "MEDDRA:10014085", "MEDDRA:10014087", "MEDDRA:10014363", "MEDDRA:10014366", "SNOMEDCT:102594003"], "information_content": 73.8}
{"id": "MONDO:0958017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 11, autosomal dominant", "equivalent_identifiers": ["MONDO:0958017", "OMIM:620674", "UMLS:C5882742", "medgen:1846394"], "information_content": 100.0}
{"id": "MONDO:0018667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleural empyema", "equivalent_identifiers": ["MONDO:0018667", "DOID:3798", "orphanet:449266", "EFO:0009680", "UMLS:C0014013", "UMLS:C5945062", "MESH:D016724", "MEDDRA:10037381", "MEDDRA:10037658", "MEDDRA:10090758", "NCIT:C45692", "SNOMEDCT:405950009", "SNOMEDCT:405951008", "SNOMEDCT:58554001", "medgen:4928", "ICD10:J86", "HP:0011919"], "information_content": 95.4}
{"id": "HP:0032299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgG2 level", "equivalent_identifiers": ["HP:0032299", "UMLS:C5139256"], "information_content": 100.0}
{"id": "HP:0034284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent gingivitis", "equivalent_identifiers": ["HP:0034284", "UMLS:C5676847"], "information_content": 100.0}
{"id": "HP:0012311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monocytosis", "equivalent_identifiers": ["HP:0012311", "NCIT:C35147", "UMLS:C0085702", "MEDDRA:10027906", "SNOMEDCT:19636003"], "information_content": 80.9}
{"id": "HP:0100806", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sepsis", "equivalent_identifiers": ["HP:0100806", "NCIT:C3364", "UMLS:C0036690", "MEDDRA:10040072", "MEDDRA:10040082", "MEDDRA:10040089", "MEDDRA:10046161", "MEDDRA:10060437"], "information_content": 84.8}
{"id": "MONDO:0001209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common wart", "equivalent_identifiers": ["MONDO:0001209", "DOID:11165", "EFO:0009662", "UMLS:C0043037", "UMLS:C3665596", "UMLS:C5848091", "MESH:D014860", "MEDDRA:10010114", "MEDDRA:10010115", "MEDDRA:10047320", "MEDDRA:10047322", "MEDDRA:10047484", "MEDDRA:10047825", "MEDDRA:10047826", "MEDDRA:10047828", "MEDDRA:10047829", "NCIT:C27087", "NCIT:C5028", "SNOMEDCT:1296947008", "SNOMEDCT:1296960002", "SNOMEDCT:30285000", "SNOMEDCT:57019003", "medgen:777120", "HP:0200043"], "information_content": 82.1}
{"id": "MONDO:0002508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingivitis", "equivalent_identifiers": ["MONDO:0002508", "DOID:3087", "UMLS:C0017574", "UMLS:C0155937", "MESH:D005891", "MEDDRA:10000787", "MEDDRA:10018292", "MEDDRA:10021956", "MEDDRA:10072575", "NCIT:C34636", "SNOMEDCT:31642005", "SNOMEDCT:66383009", "medgen:4895", "ICD10:K05.0", "ICD10:K05.1", "ICD10:K05.10", "ICD9:523.0", "ICD9:523.1", "HP:0000230"], "information_content": 82.6}
{"id": "HP:0003261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgA concentration", "equivalent_identifiers": ["HP:0003261", "UMLS:C0239984", "MEDDRA:10021261", "MEDDRA:10021473", "MEDDRA:10021474", "MEDDRA:10037815"], "information_content": 89.4}
{"id": "HP:0032128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased proportion of plasmablasts", "equivalent_identifiers": ["HP:0032128", "UMLS:C5139148"], "information_content": 100.0}
{"id": "MONDO:0004845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aphthous stomatitis", "equivalent_identifiers": ["MONDO:0004845", "DOID:9663", "UMLS:C0038363", "UMLS:C1959869", "UMLS:C2937365", "MEDDRA:10002958", "MEDDRA:10002959", "MEDDRA:10007166", "MEDDRA:10030960", "MEDDRA:10042131", "MEDDRA:10045287", "MEDDRA:10045288", "MEDDRA:10045372", "MEDDRA:10066577", "MEDDRA:10067589", "MEDDRA:10084265", "SNOMEDCT:110426005", "SNOMEDCT:398870000", "SNOMEDCT:426965005", "SNOMEDCT:427617000", "SNOMEDCT:722781002", "medgen:20959", "ICD9:528.2", "HP:0011107"], "information_content": 83.6}
{"id": "HP:0032154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aphthous ulcer", "equivalent_identifiers": ["HP:0032154"], "information_content": 100.0}
{"id": "HP:0002149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperuricemia", "equivalent_identifiers": ["HP:0002149", "EFO:0009104", "NCIT:C3961", "UMLS:C0740394", "MEDDRA:10020903", "MEDDRA:10020904", "MEDDRA:10020907", "MEDDRA:10046507", "SNOMEDCT:35885006", "MESH:D033461"], "information_content": 85.5}
{"id": "MONDO:0014354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 43", "equivalent_identifiers": ["MONDO:0014354", "DOID:0081207", "OMIM:615817", "UMLS:C4014386", "medgen:862823"], "information_content": 100.0}
{"id": "HP:0034042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dorsal hirsutism", "equivalent_identifiers": ["HP:0034042", "UMLS:C5558436"], "information_content": 100.0}
{"id": "MONDO:0014349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 10", "equivalent_identifiers": ["MONDO:0014349", "DOID:0060279", "OMIM:615803", "orphanet:411493", "UMLS:C5190575", "SNOMEDCT:782720005", "medgen:1676575"], "information_content": 100.0}
{"id": "HP:0002120", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral cortical atrophy", "equivalent_identifiers": ["HP:0002120", "UMLS:C4551583"], "information_content": 86.3}
{"id": "MONDO:0019953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mega-cisterna magna", "equivalent_identifiers": ["MONDO:0019953", "orphanet:97252", "UMLS:C1853377", "UMLS:C3164501", "MEDDRA:10081427", "SNOMEDCT:447739003", "medgen:344031", "HP:0002280"], "information_content": 100.0}
{"id": "HP:0000817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced eye contact", "equivalent_identifiers": ["HP:0000817", "UMLS:C1445953", "SNOMEDCT:412786000"], "information_content": 100.0}
{"id": "HP:0000253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive microcephaly", "equivalent_identifiers": ["HP:0000253", "UMLS:C1850456"], "information_content": 100.0}
{"id": "MONDO:0008731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial adrenal hypoplasia with absent pituitary luteinizing hormone", "equivalent_identifiers": ["MONDO:0008731", "OMIM:202150", "orphanet:95700", "UMLS:C1859978", "MESH:C565976", "medgen:348510"], "information_content": 100.0}
{"id": "HP:0030344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating luteinizing hormone level", "equivalent_identifiers": ["HP:0030344", "UMLS:C4072890"], "information_content": 95.4}
{"id": "MONDO:0010264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked adrenal hypoplasia congenita", "equivalent_identifiers": ["MONDO:0010264", "DOID:0080156", "OMIM:300200", "orphanet:95702", "UMLS:C0220766", "UMLS:C0342482", "MEDDRA:10049057", "NCIT:C123725", "SNOMEDCT:237764004", "SNOMEDCT:93235007", "medgen:87442", "HP:0008244"], "information_content": 95.4}
{"id": "MONDO:0030750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 4, intermediate", "equivalent_identifiers": ["MONDO:0030750", "OMIM:619787", "UMLS:C2608084", "medgen:382015"], "information_content": 100.0}
{"id": "HP:0008391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystrophic fingernails", "equivalent_identifiers": ["HP:0008391", "UMLS:C3551426"], "information_content": 100.0}
{"id": "HP:0004552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scarring alopecia of scalp", "equivalent_identifiers": ["HP:0004552", "UMLS:C3806301"], "information_content": 100.0}
{"id": "HP:0009722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dental enamel pits", "equivalent_identifiers": ["HP:0009722", "UMLS:C1860711"], "information_content": 100.0}
{"id": "HP:0007412", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular hyperpigmented dermopathy", "equivalent_identifiers": ["HP:0007412", "UMLS:C4024885"], "information_content": 100.0}
{"id": "MONDO:0859309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 88, autosomal dominant", "equivalent_identifiers": ["MONDO:0859309", "DOID:0070457", "OMIM:620106", "UMLS:C5774247", "medgen:1824020"], "information_content": 100.0}
{"id": "HP:0003552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle stiffness", "equivalent_identifiers": ["HP:0003552", "NCIT:C118433", "UMLS:C0221170", "MEDDRA:10028339", "MEDDRA:10042048"], "information_content": 87.2}
{"id": "HP:0002061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb spasticity", "equivalent_identifiers": ["HP:0002061", "UMLS:C1271100", "MEDDRA:10024132", "SNOMEDCT:394679006"], "information_content": 89.4}
{"id": "MONDO:0100311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensory ataxia", "equivalent_identifiers": ["MONDO:0100311", "UMLS:C0037921", "UMLS:C0240991", "MEDDRA:10073686", "SNOMEDCT:445458007", "SNOMEDCT:69131009", "medgen:66020", "HP:0010871"], "information_content": 92.8}
{"id": "HP:0011448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle clonus", "equivalent_identifiers": ["HP:0011448", "UMLS:C0238651", "SNOMEDCT:39055007"], "information_content": 100.0}
{"id": "HP:0007340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb muscle weakness", "equivalent_identifiers": ["HP:0007340", "NCIT:C78456", "UMLS:C0427068", "UMLS:C1836296", "MEDDRA:10024947", "MEDDRA:10065776", "SNOMEDCT:249945007"], "information_content": 83.6}
{"id": "MONDO:0032786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 11", "equivalent_identifiers": ["MONDO:0032786", "DOID:0112169", "OMIM:618499", "UMLS:C5193130", "NCIT:C177119", "medgen:1681177"], "information_content": 100.0}
{"id": "HP:0007517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmoplantar cutis laxa", "equivalent_identifiers": ["HP:0007517", "UMLS:C1856714"], "information_content": 100.0}
{"id": "HP:0004482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Relative macrocephaly", "equivalent_identifiers": ["HP:0004482", "UMLS:C1849075", "SNOMEDCT:3961000119101"], "information_content": 100.0}
{"id": "MONDO:0008753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alkaptonuria", "equivalent_identifiers": ["MONDO:0008753", "DOID:9270", "OMIM:203500", "orphanet:56", "UMLS:C0002066", "UMLS:C2931645", "MESH:C537862", "MESH:D000474", "MEDDRA:10001689", "MEDDRA:10088000", "NCIT:C84546", "SNOMEDCT:360378009", "medgen:1413", "icd11.foundation:1761652827"], "information_content": 100.0}
{"id": "HP:0033704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary homogentisic acid", "equivalent_identifiers": ["HP:0033704", "UMLS:C5539768"], "information_content": 100.0}
{"id": "HP:0004382", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitral valve calcification", "equivalent_identifiers": ["HP:0004382", "UMLS:C0919718", "MEDDRA:10050558", "SNOMEDCT:473372009"], "information_content": 88.2}
{"id": "HP:0033666", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished physical functioning", "equivalent_identifiers": ["HP:0033666", "UMLS:C5539751"], "information_content": 100.0}
{"id": "HP:0010501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limitation of knee mobility", "equivalent_identifiers": ["HP:0010501", "UMLS:C4021259"], "information_content": 90.9}
{"id": "HP:0040319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dark urine", "equivalent_identifiers": ["HP:0040319", "UMLS:C0426396", "MEDDRA:10085963", "SNOMEDCT:39575007"], "information_content": 100.0}
{"id": "MONDO:0001910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ochronosis", "equivalent_identifiers": ["MONDO:0001910", "DOID:14223", "UMLS:C0028817", "UMLS:C0268493", "MESH:D009794", "MEDDRA:10051253", "NCIT:C84938", "SNOMEDCT:39838007", "SNOMEDCT:410042009", "medgen:45177", "ICD10:E70.29", "HP:0030764"], "information_content": 92.8}
{"id": "HP:6000025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dark cerumen", "equivalent_identifiers": ["HP:6000025", "UMLS:C5936913"], "information_content": 100.0}
{"id": "HP:6000365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brown pigmentation of the conjunctiva", "equivalent_identifiers": ["HP:6000365", "UMLS:C5937157"], "information_content": 100.0}
{"id": "MONDO:0006816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthropathy", "equivalent_identifiers": ["MONDO:0006816", "DOID:381", "EFO:1000999", "UMLS:C0022408", "UMLS:C0157749", "MESH:D007592", "MEDDRA:10003285", "MEDDRA:10003286", "MEDDRA:10003376", "MEDDRA:10003392", "MEDDRA:10003394", "MEDDRA:10003416", "MEDDRA:10003418", "MEDDRA:10013230", "MEDDRA:10023211", "MEDDRA:10023212", "MEDDRA:10023213", "MEDDRA:10023214", "MEDDRA:10023216", "MEDDRA:10045640", "MEDDRA:10045795", "MEDDRA:10045798", "NCIT:C35760", "NCIT:C78402", "SNOMEDCT:363162000", "SNOMEDCT:396233005", "SNOMEDCT:399269003", "medgen:7190", "ICD10:M00-M02", "ICD10:M12.9", "ICD9:711", "ICD9:719.90", "HP:0003040"], "information_content": 68.5}
{"id": "HP:0004690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened Achilles tendon", "equivalent_identifiers": ["HP:0004690", "UMLS:C0919997", "MEDDRA:10050129"], "information_content": 100.0}
{"id": "HP:0012213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased glomerular filtration rate", "equivalent_identifiers": ["HP:0012213", "NCIT:C78326", "UMLS:C0853068", "MEDDRA:10018214", "MEDDRA:10018358", "MEDDRA:10018360", "SNOMEDCT:863929001"], "information_content": 100.0}
{"id": "HP:0001717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coronary artery calcification", "equivalent_identifiers": ["HP:0001717", "EFO:0004723", "NCIT:C187665", "UMLS:C1611184", "MEDDRA:10064747", "SNOMEDCT:445512009"], "information_content": 100.0}
{"id": "HP:0008800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited hip movement", "equivalent_identifiers": ["HP:0008800", "UMLS:C1851542"], "information_content": 92.8}
{"id": "HP:0006467", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited shoulder movement", "equivalent_identifiers": ["HP:0006467", "UMLS:C1851313"], "information_content": 89.4}
{"id": "HP:0007832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigmentation of the sclera", "equivalent_identifiers": ["HP:0007832", "UMLS:C1859882"], "information_content": 95.4}
{"id": "MONDO:0008171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrolithiasis", "equivalent_identifiers": ["MONDO:0008171", "DOID:585", "EFO:0004253", "UMLS:C0156257", "UMLS:C0392525", "MESH:D053040", "MEDDRA:10029148", "MEDDRA:10038478", "NCIT:C114667", "SNOMEDCT:266556005", "SNOMEDCT:95570007", "medgen:98227", "ICD10:N20", "ICD9:592", "HP:0000787"], "information_content": 84.8}
{"id": "MONDO:0859568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy, retinal, 4", "equivalent_identifiers": ["MONDO:0859568", "DOID:0070441", "OMIM:619977", "UMLS:C5774187", "medgen:1823960"], "information_content": 100.0}
{"id": "MONDO:0810000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroidal neovascularization", "equivalent_identifiers": ["MONDO:0810000", "UMLS:C0600518", "UMLS:C4023323", "MESH:D020256", "MEDDRA:10060823", "MEDDRA:10060837", "medgen:154726", "HP:0011506"], "information_content": 90.9}
{"id": "HP:0030619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced OCT-measured foveal thickness", "equivalent_identifiers": ["HP:0030619", "UMLS:C4073089"], "information_content": 100.0}
{"id": "MONDO:0009406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cantu syndrome", "equivalent_identifiers": ["MONDO:0009406", "DOID:0060569", "OMIM:239850", "orphanet:1517", "UMLS:C0795905", "MESH:C535572", "SNOMEDCT:239087008", "medgen:208647"], "information_content": 100.0}
{"id": "HP:0003016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal widening", "equivalent_identifiers": ["HP:0003016", "NCIT:C98274", "UMLS:C1849039"], "information_content": 79.6}
{"id": "HP:0010109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short hallux", "equivalent_identifiers": ["HP:0010109", "UMLS:C1865992"], "information_content": 90.9}
{"id": "MONDO:0010614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked congenital generalized hypertrichosis", "equivalent_identifiers": ["MONDO:0010614", "OMIM:307150", "orphanet:79495", "UMLS:C1855900", "UMLS:C5574955", "UMLS:C5887323", "MESH:C538388", "SNOMEDCT:1010628009", "SNOMEDCT:838368005", "medgen:1856186", "HP:0004540"], "information_content": 100.0}
{"id": "HP:0010068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad first metatarsal", "equivalent_identifiers": ["HP:0010068", "UMLS:C1855899"], "information_content": 100.0}
{"id": "HP:0007665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curly eyelashes", "equivalent_identifiers": ["HP:0007665", "UMLS:C2673670"], "information_content": 100.0}
{"id": "MONDO:0002507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingival overgrowth", "equivalent_identifiers": ["MONDO:0002507", "DOID:3086", "UMLS:C0017566", "UMLS:C0376480", "UMLS:C4476522", "MESH:D005885", "MESH:D019214", "MEDDRA:10018283", "MEDDRA:10018780", "MEDDRA:10020725", "SNOMEDCT:441787004", "SNOMEDCT:441798003", "SNOMEDCT:54711002", "medgen:87712", "ICD10:K06.1", "HP:0000212"], "information_content": 83.6}
{"id": "MONDO:0019297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphedema", "equivalent_identifiers": ["MONDO:0019297", "DOID:4977", "UMLS:C0024236", "UMLS:C0240278", "UMLS:C1835229", "MESH:D008209", "MEDDRA:10025233", "MEDDRA:10025282", "MEDDRA:10025284", "MEDDRA:10052315", "MEDDRA:10052790", "MEDDRA:10087604", "NCIT:C3207", "SNOMEDCT:234097001", "SNOMEDCT:30213001", "medgen:6155", "HP:0001004"], "information_content": 72.5}
{"id": "HP:0004634", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cuboid-shaped vertebral bodies", "equivalent_identifiers": ["HP:0004634", "UMLS:C2673653"], "information_content": 95.4}
{"id": "HP:0004975", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erlenmeyer flask deformity of the femurs", "equivalent_identifiers": ["HP:0004975", "UMLS:C1855895"], "information_content": 100.0}
{"id": "HP:0005129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital hypertrophy of left ventricle", "equivalent_identifiers": ["HP:0005129", "UMLS:C1855901"], "information_content": 100.0}
{"id": "HP:0001520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrosomia", "equivalent_identifiers": ["HP:0001520", "NCIT:C113486", "NCIT:C119954", "NCIT:C87092", "UMLS:C0015938", "UMLS:C0158915", "UMLS:C1848395", "MEDDRA:10023789", "MEDDRA:10023790", "MEDDRA:10025394", "MEDDRA:10053700", "MEDDRA:10053718", "MEDDRA:10055189", "SNOMEDCT:38206000", "MESH:D005320"], "information_content": 95.4}
{"id": "HP:0005445", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged posterior fossa", "equivalent_identifiers": ["HP:0005445", "UMLS:C1855889"], "information_content": 92.8}
{"id": "HP:0003300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ovoid vertebral bodies", "equivalent_identifiers": ["HP:0003300", "UMLS:C1855665", "UMLS:C4020844"], "information_content": 92.8}
{"id": "HP:0002690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large sella turcica", "equivalent_identifiers": ["HP:0002690", "UMLS:C1843677", "UMLS:C4072845", "UMLS:C4072846"], "information_content": 100.0}
{"id": "MONDO:0001370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pericardial effusion", "equivalent_identifiers": ["MONDO:0001370", "DOID:118", "UMLS:C0031039", "MESH:D010490", "MEDDRA:10014311", "MEDDRA:10034474", "NCIT:C3319", "SNOMEDCT:373945007", "medgen:10653", "icd11.foundation:2002014072", "HP:0001698"], "information_content": 86.3}
{"id": "HP:0008822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic ischiopubic ramus", "equivalent_identifiers": ["HP:0008822", "UMLS:C4024617"], "information_content": 100.0}
{"id": "MONDO:0008801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anosmia for isobutyric acid", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0008801", "OMIM:207000", "UMLS:C1859762", "medgen:347228"], "information_content": 100.0}
{"id": "HP:0010633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial anosmia", "equivalent_identifiers": ["HP:0010633", "UMLS:C4023767"], "information_content": 100.0}
{"id": "MONDO:0021105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NAFLD1", "equivalent_identifiers": ["MONDO:0021105", "OMIM:613282", "UMLS:C2750440", "medgen:413307"], "information_content": 100.0}
{"id": "MONDO:0007694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hairy nose tip", "equivalent_identifiers": ["MONDO:0007694", "OMIM:139630", "UMLS:C1841695", "MESH:C535619", "medgen:333893"], "information_content": 100.0}
{"id": "MONDO:0010225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dent disease 1", "equivalent_identifiers": ["MONDO:0010225", "DOID:0081453", "OMIM:300009", "orphanet:93622", "UMLS:C1848336", "MESH:C538212", "SNOMEDCT:717789008", "medgen:336322", "icd11.foundation:1984074789"], "information_content": 100.0}
{"id": "HP:0002663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed epiphyseal ossification", "equivalent_identifiers": ["HP:0002663", "UMLS:C1865200", "UMLS:C4280565"], "information_content": 87.2}
{"id": "HP:0002982", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial bowing", "equivalent_identifiers": ["HP:0002982", "UMLS:C1837081"], "information_content": 90.9}
{"id": "HP:0003013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bulging epiphyses", "equivalent_identifiers": ["HP:0003013", "UMLS:C1833329"], "information_content": 100.0}
{"id": "MONDO:0006944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aminoaciduria", "equivalent_identifiers": ["MONDO:0006944", "EFO:1001149", "UMLS:C0002534", "UMLS:C0238621", "UMLS:C1167670", "UMLS:C4020843", "MESH:D000608", "MEDDRA:10001939", "MEDDRA:10059144", "SNOMEDCT:35912001", "medgen:254", "HP:0003355"], "information_content": 68.1}
{"id": "HP:0003076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glycosuria", "equivalent_identifiers": ["HP:0003076", "UMLS:C0017979", "MEDDRA:10018473", "MEDDRA:10018478", "MEDDRA:10042453", "MEDDRA:10042455", "MEDDRA:10042456", "MEDDRA:10046678", "MEDDRA:10068405", "SNOMEDCT:45154002", "MESH:D006029"], "information_content": 92.8}
{"id": "HP:0010502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular bowing", "equivalent_identifiers": ["HP:0010502", "UMLS:C4023801"], "information_content": 95.4}
{"id": "HP:0002979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowing of the legs", "equivalent_identifiers": ["HP:0002979", "UMLS:C5574706", "MEDDRA:10070298"], "information_content": 81.7}
{"id": "HP:0000117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal phosphate wasting", "equivalent_identifiers": ["HP:0000117", "UMLS:C1845169"], "information_content": 100.0}
{"id": "HP:0003109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phosphaturia", "equivalent_identifiers": ["HP:0003109", "NCIT:C67236", "UMLS:C0268079", "UMLS:C0948023", "MEDDRA:10051232", "MEDDRA:10051321", "SNOMEDCT:22450000"], "information_content": 95.4}
{"id": "HP:0000114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal tubulopathy", "equivalent_identifiers": ["HP:0000114", "NCIT:C114477", "UMLS:C1839603"], "information_content": 92.8}
{"id": "HP:0002753", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin bony cortex", "equivalent_identifiers": ["HP:0002753", "UMLS:C1833325"], "information_content": 89.4}
{"id": "HP:0003029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlargement of the ankles", "equivalent_identifiers": ["HP:0003029", "UMLS:C1838664"], "information_content": 100.0}
{"id": "HP:0003126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-molecular-weight proteinuria", "equivalent_identifiers": ["HP:0003126", "UMLS:C1839606", "MEDDRA:10088790"], "information_content": 100.0}
{"id": "HP:0002752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse bone trabeculae", "equivalent_identifiers": ["HP:0002752", "UMLS:C1833324"], "information_content": 100.0}
{"id": "HP:0003020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlargement of the wrists", "equivalent_identifiers": ["HP:0003020", "UMLS:C1838663"], "information_content": 100.0}
{"id": "HP:0002150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypercalciuria", "equivalent_identifiers": ["HP:0002150", "NCIT:C114707", "UMLS:C0020438", "MEDDRA:10020589", "MEDDRA:10020590", "SNOMEDCT:71938000", "MESH:D053565"], "information_content": 92.8}
{"id": "HP:0031415", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High serum calcitriol", "equivalent_identifiers": ["HP:0031415", "UMLS:C1833331", "UMLS:C4531136"], "information_content": 100.0}
{"id": "MONDO:0005520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rickets", "equivalent_identifiers": ["MONDO:0005520", "DOID:10609", "EFO:0005583", "UMLS:C0035579", "MESH:D012279", "MEDDRA:10039119", "MEDDRA:10039123", "MEDDRA:10079817", "NCIT:C26878", "SNOMEDCT:41345002", "medgen:48470", "HP:0002748"], "information_content": 78.8}
{"id": "MONDO:0001068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteomalacia", "equivalent_identifiers": ["MONDO:0001068", "DOID:10573", "EFO:1002027", "UMLS:C0029442", "UMLS:C3887650", "MESH:D010018", "MEDDRA:10001411", "MEDDRA:10031250", "MEDDRA:10031251", "NCIT:C26838", "NCIT:C96867", "SNOMEDCT:4598005", "medgen:14533", "ICD10:M83", "ICD9:268.2", "HP:0002749", "MP:0009445"], "information_content": 85.5}
{"id": "MONDO:0012586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary artery disease, autosomal dominant 2", "equivalent_identifiers": ["MONDO:0012586", "OMIM:610947", "UMLS:C1970440", "MESH:C567045", "medgen:370259"], "information_content": 100.0}
{"id": "MONDO:0005347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertriglyceridemia", "equivalent_identifiers": ["MONDO:0005347", "EFO:0004211", "UMLS:C0020557", "UMLS:C0813230", "UMLS:C1522137", "MESH:D015228", "MEDDRA:10014486", "MEDDRA:10020869", "MEDDRA:10020870", "MEDDRA:10040424", "MEDDRA:10044664", "MEDDRA:10051173", "MEDDRA:10054411", "NCIT:C37971", "SNOMEDCT:166848004", "SNOMEDCT:302870006", "medgen:167238", "HP:0002155"], "information_content": 90.9}
{"id": "MONDO:0005439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypercholesterolemia", "equivalent_identifiers": ["MONDO:0005439", "DOID:13810", "OMIM.PS:143890", "EFO:0004911", "UMLS:C0020445", "UMLS:C0549399", "MESH:D006938", "MEDDRA:10017340", "MEDDRA:10017341", "MEDDRA:10021668", "MEDDRA:10024055", "MEDDRA:10024057", "MEDDRA:10024059", "MEDDRA:10024905", "MEDDRA:10024906", "MEDDRA:10024910", "MEDDRA:10037821", "MEDDRA:10045254", "MEDDRA:10045255", "MEDDRA:10045257", "MEDDRA:10045258", "MEDDRA:10049593", "MEDDRA:10054380", "MEDDRA:10060371", "MEDDRA:10060594", "MEDDRA:10064613", "MEDDRA:10064706", "NCIT:C34704", "SNOMEDCT:190773008", "medgen:5688", "ICD10:E78.01", "HP:0003141"], "information_content": 88.2}
{"id": "HP:0005181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature coronary artery atherosclerosis", "equivalent_identifiers": ["HP:0005181", "UMLS:C1867743", "SNOMEDCT:1293192009"], "information_content": 100.0}
{"id": "MONDO:0005068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myocardial infarction", "equivalent_identifiers": ["MONDO:0005068", "DOID:5844", "EFO:0000612", "UMLS:C0027051", "MESH:D009203", "MEDDRA:10003723", "MEDDRA:10003724", "MEDDRA:10019250", "MEDDRA:10021758", "MEDDRA:10028595", "MEDDRA:10028596", "MEDDRA:10087618", "NCIT:C27996", "SNOMEDCT:22298006", "medgen:10150", "ICD10:I21", "HP:0001658"], "information_content": 79.3}
{"id": "MONDO:0005148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 2 diabetes mellitus", "equivalent_identifiers": ["MONDO:0005148", "DOID:9352", "OMIM:125853", "UMLS:C0011860", "UMLS:C1852091", "UMLS:C4017238", "MESH:D003924", "MEDDRA:10012611", "MEDDRA:10012613", "MEDDRA:10026947", "MEDDRA:10029402", "MEDDRA:10029505", "MEDDRA:10045242", "MEDDRA:10067585", "NCIT:C26747", "SNOMEDCT:44054006", "medgen:41523", "icd11.foundation:119724091", "ICD10:E11", "KEGG.DISEASE:04930", "HP:0005978"], "information_content": 78.3}
{"id": "MONDO:0005393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gout", "equivalent_identifiers": ["MONDO:0005393", "DOID:13189", "EFO:0004274", "UMLS:C0003868", "UMLS:C0018099", "MESH:D006073", "MESH:D015210", "MEDDRA:10003257", "MEDDRA:10003435", "MEDDRA:10018627", "MEDDRA:10018633", "MEDDRA:10018634", "MEDDRA:10018635", "NCIT:C34650", "SNOMEDCT:170733007", "SNOMEDCT:190828008", "SNOMEDCT:48440001", "SNOMEDCT:90560007", "medgen:42280", "icd11.foundation:395622227", "ICD10:M10", "ICD9:274", "ICD9:274.0", "HP:0001997"], "information_content": 85.5}
{"id": "MONDO:0008356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radial heads, posterior dislocation of", "equivalent_identifiers": ["MONDO:0008356", "OMIM:179200", "UMLS:C1867398", "MESH:C566728", "medgen:357272", "HP:0005798"], "information_content": 100.0}
{"id": "MONDO:0009534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation", "equivalent_identifiers": ["MONDO:0009534", "OMIM:247430", "UMLS:C1855476", "MESH:C565433", "medgen:344504"], "information_content": 100.0}
{"id": "MONDO:0015279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic mucocutaneous candidiasis", "equivalent_identifiers": ["MONDO:0015279", "DOID:2058", "OMIM.PS:114580", "orphanet:1334", "UMLS:C0006845", "MESH:D002178", "MEDDRA:10009007", "NCIT:C34444", "SNOMEDCT:234568006", "medgen:2426", "icd11.foundation:2120780687", "HP:0002728"], "information_content": 83.1}
{"id": "MONDO:0007593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial spasm", "equivalent_identifiers": ["MONDO:0007593", "OMIM:134300", "UMLS:C0278151", "UMLS:C0338467", "UMLS:C0858722", "UMLS:C4280324", "UMLS:C4280325", "MEDDRA:10045200", "MEDDRA:10063006", "MEDDRA:10088042", "SNOMEDCT:230335009", "SNOMEDCT:32402008", "medgen:124458", "HP:0011468"], "information_content": 100.0}
{"id": "MONDO:0007122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anisocoria", "equivalent_identifiers": ["MONDO:0007122", "OMIM:106240", "UMLS:C0003079", "MESH:D015875", "MEDDRA:10002535", "MEDDRA:10037517", "MEDDRA:10037538", "MEDDRA:10045522", "SNOMEDCT:13045009", "medgen:1944", "HP:0009916"], "information_content": 100.0}
{"id": "MONDO:0014071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "equivalent_identifiers": ["MONDO:0014071", "DOID:0111230", "OMIM:615181", "UMLS:C3554638", "medgen:767552"], "information_content": 100.0}
{"id": "MONDO:0008375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal detachment", "equivalent_identifiers": ["MONDO:0008375", "DOID:5327", "OMIM:180050", "EFO:0005773", "UMLS:C0035305", "UMLS:C0154844", "MESH:D012163", "MEDDRA:10012533", "MEDDRA:10012542", "MEDDRA:10038848", "MEDDRA:10038874", "MEDDRA:10038875", "MEDDRA:10040046", "MEDDRA:10046144", "MEDDRA:10064854", "NCIT:C26874", "SNOMEDCT:42059000", "medgen:19759", "ICD10:H33.2", "ICD9:361.9", "HP:0000541"], "information_content": 87.2}
{"id": "HP:0002352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leukoencephalopathy", "equivalent_identifiers": ["HP:0002352", "NCIT:C27059", "UMLS:C0270612", "MEDDRA:10024382", "SNOMEDCT:16058431000119104", "SNOMEDCT:22811006", "MESH:D056784"], "information_content": 79.6}
{"id": "MONDO:0001941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blindness", "equivalent_identifiers": ["MONDO:0001941", "DOID:1432", "UMLS:C0155020", "UMLS:C0271215", "UMLS:C0456909", "MESH:D001766", "MEDDRA:10005161", "MEDDRA:10005169", "MEDDRA:10005180", "NCIT:C97109", "SNOMEDCT:105597003", "SNOMEDCT:65956007", "medgen:99138", "ICD10:H54", "ICD9:369", "HP:0000618"], "information_content": 73.8}
{"id": "MONDO:0007533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "elliptocytosis 2", "equivalent_identifiers": ["MONDO:0007533", "OMIM:130600", "UMLS:C1851741", "MESH:C565058", "medgen:343643"], "information_content": 100.0}
{"id": "MONDO:0017319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elliptocytosis", "equivalent_identifiers": ["MONDO:0017319", "DOID:2373", "orphanet:288", "UMLS:C0013902", "UMLS:C0427480", "MESH:D004612", "MEDDRA:10014489", "MEDDRA:10014490", "MEDDRA:10014491", "MEDDRA:10019877", "MEDDRA:10033118", "NCIT:C3004", "NCIT:C35882", "NCIT:C36293", "SNOMEDCT:178935009", "SNOMEDCT:250242004", "medgen:41747", "icd11.foundation:679955609", "ICD10:D58.1", "ICD9:282.1", "HP:0004445"], "information_content": 88.2}
{"id": "HP:0003265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal hyperbilirubinemia", "equivalent_identifiers": ["HP:0003265", "NCIT:C99235", "UMLS:C0857007", "MEDDRA:10020580", "MEDDRA:10020581", "MEDDRA:10060483", "MEDDRA:10060484", "SNOMEDCT:281610001", "MESH:D051556"], "information_content": 95.4}
{"id": "HP:0001923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticulocytosis", "equivalent_identifiers": ["HP:0001923", "NCIT:C153333", "UMLS:C0206160", "MEDDRA:10038796", "SNOMEDCT:46049004", "MESH:D045262"], "information_content": 95.4}
{"id": "MONDO:0014662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital insensitivity to pain-hypohidrosis syndrome", "equivalent_identifiers": ["MONDO:0014662", "DOID:0070153", "OMIM:616488", "orphanet:478664", "UMLS:C4225308", "SNOMEDCT:1172838005", "medgen:894363"], "information_content": 100.0}
{"id": "HP:0033748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoesthesia", "equivalent_identifiers": ["HP:0033748"], "information_content": 100.0}
{"id": "MONDO:0004577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal ulcer", "equivalent_identifiers": ["MONDO:0004577", "DOID:8463", "UMLS:C0010043", "MESH:D003320", "MEDDRA:10011059", "MEDDRA:10011060", "MEDDRA:10045295", "MEDDRA:10048492", "NCIT:C50515", "SNOMEDCT:91514001", "medgen:40486", "icd11.foundation:2089700977", "ICD10:H16.0", "ICD9:370.0", "HP:0012804"], "information_content": 87.2}
{"id": "HP:0002495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired vibratory sensation", "equivalent_identifiers": ["HP:0002495", "UMLS:C1295585", "MEDDRA:10065054", "MEDDRA:10065055", "MEDDRA:10067502", "SNOMEDCT:130980003"], "information_content": 89.4}
{"id": "HP:0010829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired temperature sensation", "equivalent_identifiers": ["HP:0010829", "UMLS:C4021222"], "information_content": 100.0}
{"id": "HP:0010831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired proprioception", "equivalent_identifiers": ["HP:0010831", "UMLS:C1856691"], "information_content": 85.5}
{"id": "HP:0007021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pain insensitivity", "equivalent_identifiers": ["HP:0007021", "UMLS:C0344307", "MEDDRA:10002182", "SNOMEDCT:38433004"], "information_content": 100.0}
{"id": "HP:0000559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal Scar", "equivalent_identifiers": ["HP:0000559", "NCIT:C50511", "UMLS:C0349702", "MEDDRA:10009177", "MEDDRA:10011044", "MEDDRA:10039582", "SNOMEDCT:95726001"], "information_content": 95.4}
{"id": "HP:0000966", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypohidrosis", "equivalent_identifiers": ["HP:0000966", "EFO:1000712", "NCIT:C34718", "UMLS:C0020620", "UMLS:C0553721", "MEDDRA:10020926", "MEDDRA:10021013", "MEDDRA:10042664", "SNOMEDCT:111980002", "SNOMEDCT:45004005", "MESH:D007007"], "information_content": 82.6}
{"id": "HP:0002579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal dysmotility", "equivalent_identifiers": ["HP:0002579", "UMLS:C1836923"], "information_content": 82.1}
{"id": "HP:0000633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased lacrimation", "equivalent_identifiers": ["HP:0000633", "UMLS:C0235857", "MEDDRA:10023642", "MEDDRA:10023645", "MEDDRA:10038212", "MEDDRA:10038215", "MEDDRA:10043170"], "information_content": 95.4}
{"id": "MONDO:0011735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome type 3", "equivalent_identifiers": ["MONDO:0011735", "DOID:0060023", "OMIM:606843", "orphanet:101090", "UMLS:C1720957", "NCIT:C176416", "medgen:328419"], "information_content": 100.0}
{"id": "HP:0005479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating IgE concentration", "equivalent_identifiers": ["HP:0005479", "UMLS:C0860904", "MEDDRA:10005590", "MEDDRA:10021266", "MEDDRA:10021479", "MEDDRA:10021482"], "information_content": 89.4}
{"id": "HP:0002849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of lymph node germinal center", "equivalent_identifiers": ["HP:0002849", "UMLS:C1847383"], "information_content": 95.4}
{"id": "HP:0002959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired Ig class switch recombination", "equivalent_identifiers": ["HP:0002959", "UMLS:C1842528"], "information_content": 100.0}
{"id": "HP:0002847", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired memory B cell generation", "equivalent_identifiers": ["HP:0002847", "UMLS:C4025672"], "information_content": 100.0}
{"id": "MONDO:0001341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA Deficiency", "equivalent_identifiers": ["MONDO:0001341", "DOID:0060025", "DOID:11701", "EFO:1001929", "UMLS:C0162538", "UMLS:C0553533", "UMLS:C4049006", "MESH:D017098", "MEDDRA:10011965", "MEDDRA:10021259", "MEDDRA:10021260", "MEDDRA:10021472", "MEDDRA:10021475", "MEDDRA:10039915", "NCIT:C26964", "SNOMEDCT:190979003", "SNOMEDCT:29260007", "medgen:883982", "HP:0002720"], "information_content": 89.4}
{"id": "HP:0004315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating IgG concentration", "equivalent_identifiers": ["HP:0004315", "UMLS:C4520847", "SNOMEDCT:123785006"], "information_content": 76.9}
{"id": "MONDO:0030918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 52", "equivalent_identifiers": ["MONDO:0030918", "DOID:0080231", "OMIM:617796", "EFO:0009152", "UMLS:C4540478", "medgen:1615839"], "information_content": 100.0}
{"id": "MONDO:0001441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pica disease", "equivalent_identifiers": ["MONDO:0001441", "DOID:12128", "UMLS:C0031873", "MESH:D010842", "MEDDRA:10035001", "NCIT:C92566", "SNOMEDCT:14077003", "medgen:45917", "ICD9:307.52", "HP:0011856"], "information_content": 95.4}
{"id": "HP:0010722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetry of the ears", "equivalent_identifiers": ["HP:0010722", "UMLS:C1168239", "MEDDRA:10059452"], "information_content": 90.9}
{"id": "HP:0002938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar hyperlordosis", "equivalent_identifiers": ["HP:0002938", "UMLS:C1184923", "MEDDRA:10078015", "SNOMEDCT:313471000119104"], "information_content": 100.0}
{"id": "HP:0008689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral cryptorchidism", "equivalent_identifiers": ["HP:0008689", "UMLS:C0431661", "UMLS:C0431663", "SNOMEDCT:268228006"], "information_content": 100.0}
{"id": "HP:0002360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleep abnormality", "equivalent_identifiers": ["HP:0002360", "UMLS:C0037317", "MEDDRA:10040995", "MEDDRA:10040998", "MEDDRA:10040999", "MEDDRA:10046174", "SNOMEDCT:53888004"], "information_content": 70.1}
{"id": "HP:0001623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Breech presentation", "equivalent_identifiers": ["HP:0001623", "NCIT:C34438", "UMLS:C0006157", "MEDDRA:10006356", "SNOMEDCT:249101006", "SNOMEDCT:6096002", "MESH:D001946"], "information_content": 90.9}
{"id": "HP:0000194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Open mouth", "equivalent_identifiers": ["HP:0000194", "UMLS:C0240379", "SNOMEDCT:262016004"], "information_content": 92.8}
{"id": "HP:0025502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overweight", "equivalent_identifiers": ["HP:0025502", "NCIT:C94250", "UMLS:C0497406", "MEDDRA:10033307", "SNOMEDCT:238131007", "MESH:D050177"], "information_content": 95.4}
{"id": "HP:0004626", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar scoliosis", "equivalent_identifiers": ["HP:0004626", "UMLS:C2748518", "MEDDRA:10075179"], "information_content": 95.4}
{"id": "MONDO:0010611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius", "equivalent_identifiers": ["MONDO:0010611", "OMIM:307000", "orphanet:2182", "UMLS:C0265216", "MESH:C536078", "SNOMEDCT:71779008", "medgen:75552", "icd11.foundation:1284135636"], "information_content": 100.0}
{"id": "MONDO:0022349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital absence of septum pellucidum", "equivalent_identifiers": ["MONDO:0022349", "UMLS:C0431371", "MESH:C535562", "MEDDRA:10062267", "SNOMEDCT:253143001", "medgen:96561", "HP:0001331"], "information_content": 92.8}
{"id": "MONDO:0009361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius", "equivalent_identifiers": ["MONDO:0009361", "OMIM:236635", "UMLS:C0266476", "UMLS:C0431355", "UMLS:C2936786", "MEDDRA:10067575", "SNOMEDCT:302882002", "SNOMEDCT:50429003", "medgen:608953", "HP:0002410"], "information_content": 92.8}
{"id": "HP:0009600", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thumb contracture", "equivalent_identifiers": ["HP:0009600", "UMLS:C0409346", "SNOMEDCT:239736003"], "information_content": 88.2}
{"id": "HP:0007016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corticospinal tract hypoplasia", "equivalent_identifiers": ["HP:0007016", "UMLS:C1844007"], "information_content": 100.0}
{"id": "MONDO:0014972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 19q13.11 deletion syndrome, proximal", "equivalent_identifiers": ["MONDO:0014972", "OMIM:617219", "UMLS:C4311046", "medgen:935013"], "information_content": 100.0}
{"id": "MONDO:0005385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysm", "equivalent_identifiers": ["MONDO:0005385", "DOID:178", "EFO:0004264", "EFO:0009659", "UMLS:C0002940", "UMLS:C0042373", "UMLS:C0752127", "UMLS:C4020848", "MESH:D000783", "MESH:D014652", "MESH:D020758", "MEDDRA:10002329", "MEDDRA:10002360", "MEDDRA:10013282", "MEDDRA:10047059", "MEDDRA:10047062", "MEDDRA:10047065", "MEDDRA:10059245", "NCIT:C26693", "NCIT:C35117", "SNOMEDCT:27550009", "SNOMEDCT:432119003", "SNOMEDCT:85659009", "medgen:22621", "ICD10:I72", "ICD10:I72.9", "ICD9:442.9", "HP:0002617"], "information_content": 55.3}
{"id": "MONDO:0010788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber hereditary optic neuropathy", "equivalent_identifiers": ["MONDO:0010788", "DOID:705", "OMIM:535000", "orphanet:104", "UMLS:C0917796", "MESH:D029242", "MEDDRA:10062951", "NCIT:C84808", "SNOMEDCT:58610003", "medgen:182973", "icd11.foundation:1018428959", "ICD10:H47.22", "HP:0001112"], "information_content": 92.8}
{"id": "HP:0000576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Centrocecal scotoma", "equivalent_identifiers": ["HP:0000576", "UMLS:C0271196", "SNOMEDCT:33014001"], "information_content": 100.0}
{"id": "MONDO:0001431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxic or nutritional optic neuropathy", "equivalent_identifiers": ["MONDO:0001431", "DOID:1209", "UMLS:C0155302", "UMLS:C3887709", "MEDDRA:10029860", "MEDDRA:10030947", "MEDDRA:10061323", "NCIT:C118711", "SNOMEDCT:82108004", "medgen:509902", "ICD10:H46.2", "ICD9:377.33", "HP:0001138"], "information_content": 92.8}
{"id": "HP:0007768", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central retinal vessel vascular tortuosity", "equivalent_identifiers": ["HP:0007768", "UMLS:C4021569"], "information_content": 100.0}
{"id": "MONDO:0030992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, oligodontia, dysmorphic facies, and motor delay", "equivalent_identifiers": ["MONDO:0030992", "OMIM:619234", "UMLS:C5543206", "medgen:1787876"], "information_content": 100.0}
{"id": "HP:0008454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar kyphosis", "equivalent_identifiers": ["HP:0008454", "UMLS:C1844818"], "information_content": 92.8}
{"id": "HP:0001847", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long hallux", "equivalent_identifiers": ["HP:0001847", "UMLS:C1864375"], "information_content": 100.0}
{"id": "HP:0002313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spastic paraparesis", "equivalent_identifiers": ["HP:0002313", "UMLS:C0037771", "MEDDRA:10069208", "SNOMEDCT:312444006", "MESH:D020336"], "information_content": 95.4}
{"id": "HP:0033044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor regression", "equivalent_identifiers": ["HP:0033044", "UMLS:C3276997"], "information_content": 100.0}
{"id": "MONDO:0000050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital IGHD", "equivalent_identifiers": ["MONDO:0000050", "DOID:0060870", "OMIM.PS:262400", "orphanet:631", "UMLS:C3714796", "UMLS:C5539399", "UMLS:C5679572", "NCIT:C112835", "SNOMEDCT:2109003", "medgen:1843308", "ICD10:E23.0", "ICD9:253.3", "HP:0000824"], "information_content": 85.5}
{"id": "HP:0003418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Back pain", "equivalent_identifiers": ["HP:0003418", "NCIT:C41830", "UMLS:C0004604", "MEDDRA:10003978", "MEDDRA:10003988", "MEDDRA:10003993", "MEDDRA:10003994", "MEDDRA:10013601", "MEDDRA:10033380", "MEDDRA:10033391", "MEDDRA:10033478", "MEDDRA:10064734", "SNOMEDCT:161891005", "MESH:D001416"], "information_content": 84.2}
{"id": "MONDO:0009240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "formiminoglutamic aciduria", "equivalent_identifiers": ["MONDO:0009240", "DOID:0111679", "OMIM:229100", "orphanet:51208", "UMLS:C0268609", "MESH:C537425", "SNOMEDCT:59761008", "medgen:82823", "icd11.foundation:664824338"], "information_content": 100.0}
{"id": "MONDO:0001700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megaloblastic anemia", "equivalent_identifiers": ["MONDO:0001700", "DOID:13382", "UMLS:C0002888", "MESH:D000749", "MEDDRA:10002065", "MEDDRA:10002298", "MEDDRA:10027128", "MEDDRA:10027129", "MEDDRA:10074044", "NCIT:C34382", "SNOMEDCT:53165003", "medgen:1527", "ICD10:D53.1", "HP:0001889"], "information_content": 83.6}
{"id": "HP:0034742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary formiminoglutamic acid level", "equivalent_identifiers": ["HP:0034742", "UMLS:C5826631"], "information_content": 100.0}
{"id": "HP:0003612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive ferric chloride test", "equivalent_identifiers": ["HP:0003612", "UMLS:C4025589"], "information_content": 100.0}
{"id": "HP:0004821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypersegmentation of neutrophil nuclei", "equivalent_identifiers": ["HP:0004821", "UMLS:C4025288"], "information_content": 100.0}
{"id": "MONDO:0013559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 7", "equivalent_identifiers": ["MONDO:0013559", "DOID:0060545", "OMIM:614076", "orphanet:231531", "UMLS:C3279756", "medgen:481386"], "information_content": 100.0}
{"id": "MONDO:0043209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "albinism", "equivalent_identifiers": ["MONDO:0043209", "UMLS:C0001916", "UMLS:C0333913", "MESH:D000417", "MEDDRA:10001557", "NCIT:C84543", "SNOMEDCT:15890002", "SNOMEDCT:18064000", "medgen:182", "HP:0001022"], "information_content": 90.9}
{"id": "HP:0003540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired platelet aggregation", "equivalent_identifiers": ["HP:0003540", "UMLS:C1855853"], "information_content": 83.6}
{"id": "HP:0011891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Post-partum hemorrhage", "equivalent_identifiers": ["HP:0011891", "NCIT:C92853", "UMLS:C0032797", "MEDDRA:10005128", "MEDDRA:10019580", "MEDDRA:10036296", "MEDDRA:10036417", "MEDDRA:10036418", "MEDDRA:10055839", "MEDDRA:10071867", "SNOMEDCT:47821001", "MESH:D006473"], "information_content": 92.8}
{"id": "HP:0006298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged bleeding after dental extraction", "equivalent_identifiers": ["HP:0006298", "UMLS:C1969572"], "information_content": 100.0}
{"id": "MONDO:0017304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular albinism", "equivalent_identifiers": ["MONDO:0017304", "DOID:0050633", "orphanet:284804", "UMLS:C0078917", "MESH:D016117", "MEDDRA:10065276", "SNOMEDCT:26399002", "medgen:38147", "icd11.foundation:1147926040", "HP:0001107"], "information_content": 88.2}
{"id": "HP:0001934", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent bleeding after trauma", "equivalent_identifiers": ["HP:0001934", "UMLS:C1844374"], "information_content": 100.0}
{"id": "MONDO:0014149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal akinesia-cerebral and retinal hemorrhage syndrome", "equivalent_identifiers": ["MONDO:0014149", "OMIM:615368", "orphanet:363409", "UMLS:C4706410", "SNOMEDCT:763346009", "medgen:1631944"], "information_content": 100.0}
{"id": "HP:0000573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal hemorrhage", "equivalent_identifiers": ["HP:0000573", "NCIT:C187279", "UMLS:C0035317", "MEDDRA:10019584", "MEDDRA:10038867", "MEDDRA:10038870", "MEDDRA:10051304", "MEDDRA:10055843", "SNOMEDCT:28998008", "MESH:D012166"], "information_content": 84.2}
{"id": "HP:0100309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subdural hemorrhage", "equivalent_identifiers": ["HP:0100309", "EFO:1001801", "NCIT:C116585", "NCIT:C50759", "UMLS:C0018946", "UMLS:C0238156", "MEDDRA:10019000", "MEDDRA:10019442", "MEDDRA:10019588", "MEDDRA:10042361", "MEDDRA:10042364", "MEDDRA:10042380", "MEDDRA:10042384", "MEDDRA:10050165", "MEDDRA:10055374", "MEDDRA:10055893", "MEDDRA:10071893", "SNOMEDCT:35486000", "SNOMEDCT:95453001", "MESH:D006408", "MESH:D046648"], "information_content": 95.4}
{"id": "HP:0000762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased nerve conduction velocity", "equivalent_identifiers": ["HP:0000762", "UMLS:C1857640"], "information_content": 90.9}
{"id": "MONDO:0009837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroid plexus papilloma", "equivalent_identifiers": ["MONDO:0009837", "DOID:2626", "OMIM:260500", "orphanet:2807", "EFO:1000177", "UMLS:C0205770", "UMLS:C1332963", "UMLS:C1960516", "MESH:D020288", "MEDDRA:10008777", "NCIT:C3698", "NCIT:C5800", "SNOMEDCT:1156641000", "SNOMEDCT:18021007", "SNOMEDCT:425868004", "medgen:64439", "icd11.foundation:1696749652", "HP:0200022"], "information_content": 92.8}
{"id": "MONDO:0006879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papilledema", "equivalent_identifiers": ["MONDO:0006879", "DOID:10175", "DOID:146", "EFO:1001074", "UMLS:C0030353", "UMLS:C0155288", "UMLS:C0919308", "MESH:D010211", "MEDDRA:10013058", "MEDDRA:10013061", "MEDDRA:10030918", "MEDDRA:10030920", "MEDDRA:10030923", "MEDDRA:10030948", "MEDDRA:10033703", "MEDDRA:10033707", "MEDDRA:10033708", "MEDDRA:10033709", "MEDDRA:10033710", "MEDDRA:10033712", "MEDDRA:10055401", "MEDDRA:10055949", "MEDDRA:10089152", "NCIT:C3307", "SNOMEDCT:248487006", "SNOMEDCT:423341008", "SNOMEDCT:423488006", "SNOMEDCT:73221001", "medgen:10565", "ICD10:H35.81", "ICD10:H47.1", "ICD10:H47.11", "ICD9:362.83", "ICD9:377.0", "ICD9:377.01", "HP:0001085"], "information_content": 87.2}
{"id": "HP:0002018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nausea", "equivalent_identifiers": ["HP:0002018", "NCIT:C3258", "UMLS:C0027497", "MEDDRA:10016361", "MEDDRA:10028813", "MEDDRA:10028822", "MEDDRA:10028823", "MEDDRA:10037730", "SNOMEDCT:422587007", "MESH:D009325"], "information_content": 71.8}
{"id": "HP:0002315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Headache", "equivalent_identifiers": ["HP:0002315", "NCIT:C34661", "UMLS:C0018681", "MEDDRA:10008013", "MEDDRA:10019198", "MEDDRA:10019211", "MEDDRA:10019218", "MEDDRA:10019231", "MEDDRA:10033405", "SNOMEDCT:25064002", "MESH:D006261"], "information_content": 60.8}
{"id": "MONDO:0012336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 22 multiple types", "equivalent_identifiers": ["MONDO:0012336", "DOID:0110268", "OMIM:609741", "UMLS:C1857853", "MESH:C565725", "medgen:341862"], "information_content": 100.0}
{"id": "MONDO:0030038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary glaucoma, primary closed-angle", "equivalent_identifiers": ["MONDO:0030038", "OMIM:618880", "UMLS:C5394374", "medgen:1712967"], "information_content": 100.0}
{"id": "HP:0001123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual field defect", "equivalent_identifiers": ["HP:0001123", "NCIT:C118727", "UMLS:C3887875", "MEDDRA:10047555", "MEDDRA:10047556", "MEDDRA:10047559", "SNOMEDCT:12184005"], "information_content": 75.8}
{"id": "HP:0011483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior synechiae of the anterior chamber", "equivalent_identifiers": ["HP:0011483", "UMLS:C0152252", "MEDDRA:10002707", "SNOMEDCT:70992005"], "information_content": 100.0}
{"id": "MONDO:0001868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary angle-closure glaucoma", "equivalent_identifiers": ["MONDO:0001868", "DOID:1405", "EFO:1001506", "UMLS:C0017606", "MEDDRA:10036675", "MEDDRA:10036676", "SNOMEDCT:392288006", "medgen:42225", "ICD10:H40.2", "ICD9:365.2", "HP:0012109"], "information_content": 88.2}
{"id": "HP:0012796", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased cup-to-disc ratio", "equivalent_identifiers": ["HP:0012796", "UMLS:C3805911"], "information_content": 87.2}
{"id": "MONDO:0012438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 5", "equivalent_identifiers": ["MONDO:0012438", "DOID:0060274", "OMIM:610204", "UMLS:C1857762", "MESH:C537745", "SNOMEDCT:718607001", "medgen:341845", "icd11.foundation:1962551792"], "information_content": 100.0}
{"id": "HP:0006955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olivopontocerebellar hypoplasia", "equivalent_identifiers": ["HP:0006955", "UMLS:C1859341"], "information_content": 100.0}
{"id": "MONDO:0011907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocapitofemoral dysplasia", "equivalent_identifiers": ["MONDO:0011907", "DOID:0050604", "OMIM:607778", "orphanet:63446", "UMLS:C1843096", "MESH:C564334", "SNOMEDCT:720416007", "medgen:334681", "icd11.foundation:687396416"], "information_content": 100.0}
{"id": "HP:0002983", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Micromelia", "equivalent_identifiers": ["HP:0002983", "UMLS:C0025995", "MEDDRA:10027546", "SNOMEDCT:74370006"], "information_content": 86.3}
{"id": "HP:0003099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular overgrowth", "equivalent_identifiers": ["HP:0003099", "UMLS:C1864298"], "information_content": 95.4}
{"id": "MONDO:0016032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short femur", "equivalent_identifiers": ["MONDO:0016032", "orphanet:1987", "UMLS:C0345375", "SNOMEDCT:93255008", "medgen:87499", "icd11.foundation:662157487", "HP:0003097"], "information_content": 92.8}
{"id": "HP:0030033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small finger", "equivalent_identifiers": ["HP:0030033", "UMLS:C0575827", "SNOMEDCT:299058009"], "information_content": 100.0}
{"id": "HP:0100864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short femoral neck", "equivalent_identifiers": ["HP:0100864", "UMLS:C1836184"], "information_content": 100.0}
{"id": "HP:0006059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped metacarpal epiphyses", "equivalent_identifiers": ["HP:0006059", "UMLS:C1855239"], "information_content": 95.4}
{"id": "HP:0001821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad nail", "equivalent_identifiers": ["HP:0001821", "UMLS:C1843112"], "information_content": 100.0}
{"id": "HP:0006216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single interphalangeal crease of fifth finger", "equivalent_identifiers": ["HP:0006216", "UMLS:C1850336"], "information_content": 100.0}
{"id": "HP:0006438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlargement of the distal femoral epiphysis", "equivalent_identifiers": ["HP:0006438", "UMLS:C1843105"], "information_content": 100.0}
{"id": "HP:0002970", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genu varum", "equivalent_identifiers": ["HP:0002970", "NCIT:C84726", "UMLS:C0544755", "MEDDRA:10018199", "SNOMEDCT:299331007", "MESH:D056305"], "information_content": 92.8}
{"id": "MONDO:0008620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short ulna", "equivalent_identifiers": ["MONDO:0008620", "OMIM:191440", "orphanet:2497", "UMLS:C1860614", "UMLS:C1862132", "UMLS:C5574958", "MESH:C538069", "SNOMEDCT:1010609002", "medgen:1811806", "icd11.foundation:2013121778", "HP:0003022"], "information_content": 90.9}
{"id": "HP:6000884", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged humeral head", "equivalent_identifiers": ["HP:6000884", "UMLS:C5937595"], "information_content": 100.0}
{"id": "HP:0010575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplasia of the femoral head", "equivalent_identifiers": ["HP:0010575", "UMLS:C4021251", "UMLS:C4280377"], "information_content": 100.0}
{"id": "HP:0010017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphysis of the 1st metacarpal", "equivalent_identifiers": ["HP:0010017", "UMLS:C4024106"], "information_content": 100.0}
{"id": "HP:0010241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short proximal phalanx of finger", "equivalent_identifiers": ["HP:0010241", "UMLS:C1860606"], "information_content": 87.2}
{"id": "HP:0005819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short middle phalanx of finger", "equivalent_identifiers": ["HP:0005819", "UMLS:C1846950"], "information_content": 87.2}
{"id": "HP:0002869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared iliac wing", "equivalent_identifiers": ["HP:0002869", "UMLS:C1865841", "MEDDRA:10090490"], "information_content": 100.0}
{"id": "HP:0000887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cupped ribs", "equivalent_identifiers": ["HP:0000887", "UMLS:C0426826", "UMLS:C1865039", "SNOMEDCT:249704008"], "information_content": 90.9}
{"id": "HP:0008789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped capital femoral epiphysis", "equivalent_identifiers": ["HP:0008789", "UMLS:C1846157"], "information_content": 100.0}
{"id": "HP:0002986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial bowing", "equivalent_identifiers": ["HP:0002986", "UMLS:C1859399"], "information_content": 95.4}
{"id": "HP:0002866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic iliac wing", "equivalent_identifiers": ["HP:0002866", "UMLS:C1865027"], "information_content": 100.0}
{"id": "HP:0005736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short tibia", "equivalent_identifiers": ["HP:0005736", "UMLS:C1850259", "UMLS:C1855277"], "information_content": 92.8}
{"id": "HP:0009638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short proximal phalanx of thumb", "equivalent_identifiers": ["HP:0009638", "UMLS:C1855091"], "information_content": 100.0}
{"id": "HP:0001799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short nail", "equivalent_identifiers": ["HP:0001799", "UMLS:C0423808", "SNOMEDCT:247488004"], "information_content": 95.4}
{"id": "MONDO:0032854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zimmermann-Laband syndrome 3", "equivalent_identifiers": ["MONDO:0032854", "OMIM:618658", "UMLS:C5231447", "medgen:1684740"], "information_content": 100.0}
{"id": "HP:0001792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small nail", "equivalent_identifiers": ["HP:0001792", "UMLS:C0263523", "SNOMEDCT:11375002"], "information_content": 80.9}
{"id": "HP:0005807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent distal phalanges", "equivalent_identifiers": ["HP:0005807", "UMLS:C1861339"], "information_content": 100.0}
{"id": "HP:0001802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent toenail", "equivalent_identifiers": ["HP:0001802", "UMLS:C1844555"], "information_content": 92.8}
{"id": "HP:0100380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanx of the 5th toe", "equivalent_identifiers": ["HP:0100380", "UMLS:C4022112"], "information_content": 100.0}
{"id": "HP:0010432", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent distal phalanx of the 2nd toe", "equivalent_identifiers": ["HP:0010432", "UMLS:C4021268"], "information_content": 100.0}
{"id": "HP:0032524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long thumb", "equivalent_identifiers": ["HP:0032524", "UMLS:C1833148"], "information_content": 100.0}
{"id": "HP:0100874", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick hair", "equivalent_identifiers": ["HP:0100874", "UMLS:C4073184"], "information_content": 100.0}
{"id": "MONDO:0100281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macroglobulinemia, Waldenstrom, 1", "equivalent_identifiers": ["MONDO:0100281", "OMIM:153600", "UMLS:C1835192", "medgen:320546"], "information_content": 100.0}
{"id": "MONDO:0005059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukemia", "equivalent_identifiers": ["MONDO:0005059", "DOID:1240", "EFO:0000565", "UMLS:C0023418", "MESH:D007938", "MEDDRA:10024288", "MEDDRA:10024312", "MEDDRA:10024314", "MEDDRA:10024323", "MEDDRA:10024324", "MEDDRA:10024329", "MEDDRA:10024351", "MEDDRA:10024352", "MEDDRA:10045991", "MEDDRA:10045992", "MEDDRA:10045994", "MEDDRA:10060430", "MEDDRA:10060500", "NCIT:C3161", "SNOMEDCT:1162768007", "SNOMEDCT:87163000", "SNOMEDCT:93143009", "medgen:9725", "ICD10:C95.90", "ICD9:208", "HP:0001909"], "information_content": 55.7}
{"id": "MONDO:0100280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waldenstrom macroglobulinemia", "equivalent_identifiers": ["MONDO:0100280", "DOID:0060901", "DOID:9080", "OMIM.PS:153600", "orphanet:33226", "EFO:0002616", "EFO:0009441", "UMLS:C0024419", "UMLS:C2936755", "UMLS:C4477091", "MESH:D008258", "MEDDRA:10025389", "MEDDRA:10025390", "MEDDRA:10047714", "MEDDRA:10047801", "MEDDRA:10047802", "MEDDRA:10047803", "MEDDRA:10054693", "MEDDRA:10054695", "MEDDRA:10054696", "MEDDRA:10062831", "MEDDRA:10081211", "MEDDRA:10081215", "NCIT:C115212", "NCIT:C80307", "SNOMEDCT:190817009", "SNOMEDCT:190818004", "SNOMEDCT:35562000", "medgen:6174", "ICD10:C88.0", "ICD9:273.3", "HP:0005508"], "information_content": 89.4}
{"id": "HP:0003459", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyclonal elevation of IgM", "equivalent_identifiers": ["HP:0003459", "UMLS:C4025612"], "information_content": 100.0}
{"id": "HP:0003347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired lymphocyte transformation with phytohemagglutinin", "equivalent_identifiers": ["HP:0003347", "UMLS:C4025625"], "information_content": 100.0}
{"id": "MONDO:0011420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature due to partial GHR deficiency", "equivalent_identifiers": ["MONDO:0011420", "OMIM:604271", "orphanet:314802", "UMLS:C1858656", "UMLS:C3888131", "MESH:C565805", "medgen:346958"], "information_content": 100.0}
{"id": "HP:0030353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum insulin-like growth factor 1", "equivalent_identifiers": ["HP:0030353", "UMLS:C4072897"], "information_content": 100.0}
{"id": "MONDO:0011303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 1", "equivalent_identifiers": ["MONDO:0011303", "DOID:0111128", "OMIM:603278", "UMLS:C0333497", "UMLS:C4551527", "MESH:C538457", "SNOMEDCT:16104005", "medgen:1636833", "ICD10:N04.1", "HP:0033495"], "information_content": 90.9}
{"id": "HP:0002202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pleural effusion", "equivalent_identifiers": ["HP:0002202", "EFO:0009637", "NCIT:C3331", "UMLS:C0032227", "MEDDRA:10014313", "MEDDRA:10035598", "MEDDRA:10046099", "SNOMEDCT:60046008", "MESH:D010996"], "information_content": 70.4}
{"id": "HP:0001541", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ascites", "equivalent_identifiers": ["HP:0001541", "NCIT:C2885", "UMLS:C0003962", "UMLS:C5441966", "MEDDRA:10003445", "MEDDRA:10034662", "SNOMEDCT:389026000", "MESH:D001201"], "information_content": 67.9}
{"id": "HP:0005565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced renal corticomedullary differentiation", "equivalent_identifiers": ["HP:0005565", "UMLS:C3807131"], "information_content": 100.0}
{"id": "MONDO:0021187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipidemia", "equivalent_identifiers": ["MONDO:0021187", "UMLS:C0020473", "MESH:D006949", "MEDDRA:10020661", "MEDDRA:10020662", "MEDDRA:10020663", "MEDDRA:10020667", "MEDDRA:10062060", "NCIT:C34707", "SNOMEDCT:55822004", "medgen:5692", "HP:0003077"], "information_content": 67.3}
{"id": "HP:0000969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Edema", "equivalent_identifiers": ["HP:0000969", "EFO:0009373", "NCIT:C3002", "UMLS:C0013604", "UMLS:C0037580", "UMLS:C0268000", "MEDDRA:10005890", "MEDDRA:10014210", "MEDDRA:10014234", "MEDDRA:10016807", "MEDDRA:10030095", "MEDDRA:10030114", "MEDDRA:10076991", "SNOMEDCT:20741006", "SNOMEDCT:267038008", "SNOMEDCT:298349001", "SNOMEDCT:423666004", "SNOMEDCT:43498006", "SNOMEDCT:79654002", "MESH:D004487"], "information_content": 67.6}
{"id": "HP:0004719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperechogenic kidneys", "equivalent_identifiers": ["HP:0004719", "UMLS:C3275899"], "information_content": 100.0}
{"id": "MONDO:0008000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with or without aura, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0008000", "OMIM:157300", "UMLS:C3887485", "SNOMEDCT:37796009", "medgen:854348"], "information_content": 100.0}
{"id": "MONDO:0005475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with aura", "equivalent_identifiers": ["MONDO:0005475", "DOID:10024", "UMLS:C0154723", "UMLS:C1735856", "MESH:D020325", "MEDDRA:10009236", "MEDDRA:10027601", "MEDDRA:10027607", "NCIT:C117005", "SNOMEDCT:230462002", "SNOMEDCT:4473006", "medgen:57822", "icd11.foundation:525744634", "ICD10:G43.1", "ICD9:346.0", "HP:0002077"], "information_content": 84.2}
{"id": "MONDO:0100431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Common Migraine", "equivalent_identifiers": ["MONDO:0100431", "DOID:12783", "UMLS:C0338480", "MESH:D020326", "MEDDRA:10010108", "MEDDRA:10052787", "MEDDRA:10089706", "NCIT:C117004", "SNOMEDCT:56097005", "medgen:137899", "icd11.foundation:2048783472", "ICD10:G43.0", "ICD9:346.1", "HP:0002083"], "information_content": 92.8}
{"id": "HP:0002183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phonophobia", "equivalent_identifiers": ["HP:0002183", "NCIT:C122579", "UMLS:C0751466", "MEDDRA:10054956", "SNOMEDCT:313387002"], "information_content": 100.0}
{"id": "MONDO:0012177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior column ataxia-retinitis pigmentosa syndrome", "equivalent_identifiers": ["MONDO:0012177", "OMIM:609033", "orphanet:88628", "UMLS:C1836916", "MESH:C536343", "SNOMEDCT:724065003", "medgen:324636"], "information_content": 100.0}
{"id": "HP:0002166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired vibration sensation in the lower limbs", "equivalent_identifiers": ["HP:0002166", "UMLS:C1849134"], "information_content": 95.4}
{"id": "HP:0012785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexion contracture of finger", "equivalent_identifiers": ["HP:0012785", "UMLS:C1857304"], "information_content": 78.8}
{"id": "HP:0003448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased sensory nerve conduction velocity", "equivalent_identifiers": ["HP:0003448", "UMLS:C1849148"], "information_content": 100.0}
{"id": "HP:0030529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ring scotoma", "equivalent_identifiers": ["HP:0030529", "UMLS:C0438434", "MEDDRA:10039730", "SNOMEDCT:129625005"], "information_content": 100.0}
{"id": "HP:0040272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperintensity of MRI T2 signal of the spinal cord", "equivalent_identifiers": ["HP:0040272", "UMLS:C4280684"], "information_content": 100.0}
{"id": "HP:0011096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral demyelination", "equivalent_identifiers": ["HP:0011096", "UMLS:C0878575"], "information_content": 87.2}
{"id": "HP:0002403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive Romberg sign", "equivalent_identifiers": ["HP:0002403", "UMLS:C0240914", "SNOMEDCT:298310004"], "information_content": 100.0}
{"id": "MONDO:0030971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 78 with autoimmunity and developmental delay", "equivalent_identifiers": ["MONDO:0030971", "OMIM:619220", "UMLS:C5543159", "SNOMEDCT:1222681008", "medgen:1785772"], "information_content": 100.0}
{"id": "HP:0002783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent lower respiratory tract infections", "equivalent_identifiers": ["HP:0002783", "NCIT:C35158", "UMLS:C0149725", "UMLS:C0585953", "UMLS:C3163798", "MEDDRA:10008477", "MEDDRA:10024968", "MEDDRA:10024969", "MEDDRA:10024986", "SNOMEDCT:448739000", "SNOMEDCT:50417007"], "information_content": 88.2}
{"id": "MONDO:0000748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mastoiditis", "equivalent_identifiers": ["MONDO:0000748", "DOID:0060322", "UMLS:C0024904", "MESH:D008417", "MEDDRA:10026900", "MEDDRA:10026902", "MEDDRA:10046004", "NCIT:C128368", "SNOMEDCT:52404001", "medgen:7480", "ICD10:H70.9", "ICD9:383.9", "HP:0000265"], "information_content": 95.4}
{"id": "MONDO:0020108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune hemolytic anemia", "equivalent_identifiers": ["MONDO:0020108", "DOID:718", "OMIM:205700", "orphanet:98375", "EFO:1001264", "UMLS:C0002880", "MESH:D000744", "MEDDRA:10002046", "MEDDRA:10002285", "MEDDRA:10003822", "MEDDRA:10003825", "MEDDRA:10073784", "MEDDRA:10073785", "NCIT:C34378", "SNOMEDCT:413603009", "medgen:1918", "icd11.foundation:1834341306", "ICD9:283.0", "HP:0001890"], "information_content": 79.0}
{"id": "HP:0032247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent CMV viremia", "equivalent_identifiers": ["HP:0032247", "UMLS:C5139221"], "information_content": 100.0}
{"id": "HP:0001904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autoimmune neutropenia", "equivalent_identifiers": ["HP:0001904", "NCIT:C176730", "UMLS:C0340971", "MEDDRA:10055128", "SNOMEDCT:234425008"], "information_content": 100.0}
{"id": "HP:0011342", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild global developmental delay", "equivalent_identifiers": ["HP:0011342", "UMLS:C2229182", "UMLS:C4012968"], "information_content": 100.0}
{"id": "HP:0040167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial wart", "equivalent_identifiers": ["HP:0040167", "UMLS:C0343643", "SNOMEDCT:240533004"], "information_content": 100.0}
{"id": "HP:0006268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fluctuating splenomegaly", "equivalent_identifiers": ["HP:0006268", "UMLS:C1835882"], "information_content": 100.0}
{"id": "MONDO:0019098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune thrombocytopenia", "equivalent_identifiers": ["MONDO:0019098", "orphanet:71203", "UMLS:C0242584", "UMLS:C0272293", "UMLS:C0376362", "UMLS:C0920163", "MEDDRA:10050245", "MEDDRA:10051057", "MEDDRA:10083842", "SNOMEDCT:128091003", "SNOMEDCT:13172003", "SNOMEDCT:234490009", "SNOMEDCT:32273002", "medgen:116621", "HP:0001973"], "information_content": 92.8}
{"id": "HP:0410028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent oral herpes", "equivalent_identifiers": ["HP:0410028", "UMLS:C1274321", "SNOMEDCT:402892009"], "information_content": 100.0}
{"id": "MONDO:0014497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyendocrine-polyneuropathy syndrome", "equivalent_identifiers": ["MONDO:0014497", "OMIM:616113", "orphanet:453533", "UMLS:C4015261", "SNOMEDCT:1260449002", "medgen:863698"], "information_content": 100.0}
{"id": "MONDO:0004201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary hypoplasia", "equivalent_identifiers": ["MONDO:0004201", "DOID:7378", "UMLS:C0948740", "UMLS:C1859775", "MEDDRA:10051944", "NCIT:C27343", "medgen:215300", "HP:0010627"], "information_content": 95.4}
{"id": "MONDO:0005147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus", "equivalent_identifiers": ["MONDO:0005147", "DOID:9744", "OMIM:222100", "UMLS:C0011854", "MESH:D003922", "MEDDRA:10012608", "MEDDRA:10012609", "MEDDRA:10021211", "MEDDRA:10022482", "MEDDRA:10022497", "MEDDRA:10023253", "MEDDRA:10045228", "MEDDRA:10067584", "MEDDRA:10085412", "NCIT:C2986", "SNOMEDCT:46635009", "medgen:41522", "icd11.foundation:1651053999", "KEGG.DISEASE:04940", "HP:0100651"], "information_content": 77.6}
{"id": "MONDO:0016410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central congenital hypothyroidism", "equivalent_identifiers": ["MONDO:0016410", "orphanet:226298", "UMLS:C0271801", "UMLS:C4302200", "MEDDRA:10086754", "NCIT:C113144", "SNOMEDCT:26692000", "SNOMEDCT:722938007", "medgen:927869", "icd11.foundation:848364569", "HP:0011787"], "information_content": 88.2}
{"id": "HP:0031097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thyroid-stimulating hormone level", "equivalent_identifiers": ["HP:0031097", "UMLS:C4476968"], "information_content": 82.1}
{"id": "HP:0004408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the sense of smell", "equivalent_identifiers": ["HP:0004408", "UMLS:C4021655"], "information_content": 81.7}
{"id": "MONDO:0014184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific language impairment 5", "equivalent_identifiers": ["MONDO:0014184", "OMIM:615432", "EFO:0005425", "UMLS:C3809483", "medgen:815813"], "information_content": 100.0}
{"id": "MONDO:0004750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "language disorder", "equivalent_identifiers": ["MONDO:0004750", "DOID:93", "UMLS:C0023015", "MESH:D007806", "MEDDRA:10074869", "NCIT:C97155", "SNOMEDCT:62305002", "medgen:44069", "HP:0002463"], "information_content": 80.2}
{"id": "HP:0030890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperintensity of cerebral white matter on MRI", "equivalent_identifiers": ["HP:0030890", "UMLS:C2938912", "MEDDRA:10070557"], "information_content": 86.3}
{"id": "MONDO:0014975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 78", "equivalent_identifiers": ["MONDO:0014975", "DOID:0112348", "OMIM:617225", "orphanet:513436", "UMLS:C5567893", "SNOMEDCT:1177168007", "medgen:1799316"], "information_content": 100.0}
{"id": "HP:0002322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Resting tremor", "equivalent_identifiers": ["HP:0002322", "NCIT:C182454", "UMLS:C0234379", "UMLS:C0586392", "MEDDRA:10071390", "SNOMEDCT:25082004", "SNOMEDCT:308909003"], "information_content": 95.4}
{"id": "HP:0002067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bradykinesia", "equivalent_identifiers": ["HP:0002067", "NCIT:C116707", "UMLS:C0233565", "UMLS:C0920289", "MEDDRA:10006100", "MEDDRA:10041052", "MEDDRA:10083339", "SNOMEDCT:399317006"], "information_content": 100.0}
{"id": "HP:0002518", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal periventricular white matter morphology", "equivalent_identifiers": ["HP:0002518", "UMLS:C2673431"], "information_content": 86.3}
{"id": "HP:0020049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exodeviation", "equivalent_identifiers": ["HP:0020049", "UMLS:C4551670"], "information_content": 82.6}
{"id": "MONDO:0006624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary Urgency", "equivalent_identifiers": ["MONDO:0006624", "DOID:0070355", "EFO:1000781", "UMLS:C0085606", "UMLS:C0878773", "UMLS:C3544092", "UMLS:C4020898", "MESH:D053201", "MEDDRA:10020853", "MEDDRA:10020861", "MEDDRA:10027566", "MEDDRA:10046496", "MEDDRA:10046497", "MEDDRA:10046593", "MEDDRA:10046604", "MEDDRA:10058970", "MEDDRA:10059617", "MEDDRA:10073537", "NCIT:C200787", "NCIT:C50792", "SNOMEDCT:236633002", "SNOMEDCT:75088002", "SNOMEDCT:786457000", "medgen:168058", "icd11.foundation:1118102209", "ICD10:N32.81", "ICD9:596.51", "HP:0000012"], "information_content": 100.0}
{"id": "HP:0010830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired tactile sensation", "equivalent_identifiers": ["HP:0010830", "UMLS:C4021221"], "information_content": 95.4}
{"id": "HP:0000605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supranuclear gaze palsy", "equivalent_identifiers": ["HP:0000605", "UMLS:C1720037", "SNOMEDCT:420675003"], "information_content": 89.4}
{"id": "MONDO:0020856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone marrow failure syndrome 4", "equivalent_identifiers": ["MONDO:0020856", "OMIM:618116", "UMLS:C4748257", "medgen:1648485"], "information_content": 100.0}
{"id": "HP:0005528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone marrow hypocellularity", "equivalent_identifiers": ["HP:0005528", "UMLS:C1855710", "MEDDRA:10065553", "SNOMEDCT:167928002"], "information_content": 100.0}
{"id": "MONDO:0030961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olmsted syndrome 2", "equivalent_identifiers": ["MONDO:0030961", "OMIM:619208", "UMLS:C5543096", "medgen:1779902"], "information_content": 100.0}
{"id": "MONDO:0008757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia universalis congenita", "equivalent_identifiers": ["MONDO:0008757", "DOID:0050634", "OMIM:203655", "orphanet:701", "UMLS:C0263505", "UMLS:C1859877", "MESH:C537055", "MEDDRA:10001767", "SNOMEDCT:86166000", "medgen:349262", "HP:0002289"], "information_content": 100.0}
{"id": "MONDO:0008686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Woolly hair", "equivalent_identifiers": ["MONDO:0008686", "DOID:0111572", "orphanet:170", "UMLS:C0343073", "UMLS:C0345427", "UMLS:C4072835", "UMLS:C4072836", "UMLS:C4073292", "MESH:C536745", "MEDDRA:10048017", "SNOMEDCT:254231002", "SNOMEDCT:52564001", "medgen:87469", "HP:0002224"], "information_content": 84.2}
{"id": "HP:0001036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parakeratosis", "equivalent_identifiers": ["HP:0001036", "NCIT:C34892", "UMLS:C0030436", "MEDDRA:10058318", "SNOMEDCT:200766001", "SNOMEDCT:65068000", "MESH:D010241"], "information_content": 84.2}
{"id": "HP:0033707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perioral hyperkeratosis", "equivalent_identifiers": ["HP:0033707", "UMLS:C5539769"], "information_content": 100.0}
{"id": "HP:0030044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexion contracture of digit", "equivalent_identifiers": ["HP:0030044", "UMLS:C1839864"], "information_content": 74.3}
{"id": "MONDO:0002102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cheilitis", "equivalent_identifiers": ["MONDO:0002102", "DOID:1762", "UMLS:C0007971", "UMLS:C4280288", "MESH:D002613", "MEDDRA:10008417", "MEDDRA:10049345", "NCIT:C79545", "SNOMEDCT:7847004", "medgen:3349", "icd11.foundation:482914030", "HP:0100825"], "information_content": 90.9}
{"id": "MONDO:0006590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratosis", "equivalent_identifiers": ["MONDO:0006590", "DOID:3390", "EFO:1000745", "UMLS:C0022596", "NCIT:C34748", "SNOMEDCT:706885006", "medgen:44017", "ICD10:L85.2", "HP:0000972"], "information_content": 70.8}
{"id": "MONDO:0007758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keratoma", "equivalent_identifiers": ["MONDO:0007758", "DOID:0070552", "OMIM:144200", "orphanet:2199", "UMLS:C0086501", "UMLS:C0376154", "UMLS:C0406169", "UMLS:C0678127", "UMLS:C0870082", "UMLS:C1840427", "UMLS:C3489771", "UMLS:C3489794", "UMLS:C4048704", "MESH:C564171", "MESH:C567914", "MESH:D002145", "MEDDRA:10007034", "MEDDRA:10007035", "MEDDRA:10020648", "MEDDRA:10020649", "MEDDRA:10045205", "MEDDRA:10057981", "NCIT:C122927", "NCIT:C35541", "NCIT:C84693", "SNOMEDCT:201040000", "SNOMEDCT:26996000", "SNOMEDCT:396228006", "SNOMEDCT:399955009", "HP:0000962"], "information_content": 71.8}
{"id": "DOID:0111683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurofibromatosis-Noonan syndrome", "equivalent_identifiers": ["DOID:0111683", "OMIM:601321", "UMLS:C2931482", "MESH:C537393", "SNOMEDCT:715344006"]}
{"id": "HP:0005272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent nasolabial fold", "equivalent_identifiers": ["HP:0005272", "UMLS:C1866487"], "information_content": 100.0}
{"id": "HP:0000917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superior pectus carinatum", "equivalent_identifiers": ["HP:0000917", "UMLS:C1864795"], "information_content": 100.0}
{"id": "HP:0000997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axillary freckling", "equivalent_identifiers": ["HP:0000997", "UMLS:C1860335"], "information_content": 100.0}
{"id": "MONDO:0007245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cafe au lait spots, multiple", "equivalent_identifiers": ["MONDO:0007245", "OMIM:114030", "orphanet:2678", "UMLS:C1861975", "UMLS:C4732743", "UMLS:C4732744", "MESH:C537421", "MEDDRA:10088775", "SNOMEDCT:1208340009", "medgen:396266", "HP:0007565"], "information_content": 100.0}
{"id": "MONDO:0005072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroblastoma", "equivalent_identifiers": ["MONDO:0005072", "DOID:769", "orphanet:635", "EFO:0000621", "UMLS:C0027819", "UMLS:C0700095", "MESH:D009447", "MEDDRA:10029260", "MEDDRA:10029261", "NCIT:C3270", "SNOMEDCT:432328008", "SNOMEDCT:87364003", "medgen:18012", "HP:0003006"], "information_content": 70.2}
{"id": "MONDO:0016755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurofibroma", "equivalent_identifiers": ["MONDO:0016755", "DOID:0060403", "DOID:8712", "DOID:962", "OMIM:613675", "orphanet:252183", "EFO:0000622", "EFO:0008514", "UMLS:C0027830", "UMLS:C0162678", "UMLS:C0495632", "UMLS:C1314735", "UMLS:C5401456", "MESH:C563524", "MESH:D009455", "MESH:D017253", "MEDDRA:10029267", "MEDDRA:10029268", "MEDDRA:10029272", "NCIT:C3272", "NCIT:C6727", "SNOMEDCT:1156930004", "SNOMEDCT:19133005", "SNOMEDCT:404029005", "SNOMEDCT:81669005", "SNOMEDCT:880093002", "SNOMEDCT:89084002", "medgen:45058", "medgen:58149", "icd11.foundation:221014277", "ICD10:Q85.0", "ICD9:237.7", "HP:0001067"], "information_content": 76.4}
{"id": "HP:0030052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inguinal freckling", "equivalent_identifiers": ["HP:0030052", "UMLS:C1834297"], "information_content": 100.0}
{"id": "MONDO:0003304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plexiform neurofibroma", "equivalent_identifiers": ["MONDO:0003304", "DOID:5151", "EFO:0000658", "UMLS:C0206728", "MESH:D018318", "MEDDRA:10065866", "NCIT:C3797", "SNOMEDCT:403818001", "SNOMEDCT:41252002", "medgen:64640", "HP:0009732"], "information_content": 92.8}
{"id": "MONDO:0003235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic nerve glioma", "equivalent_identifiers": ["MONDO:0003235", "DOID:4992", "EFO:0009254", "UMLS:C0346326", "MESH:D020339", "MEDDRA:10030935", "MEDDRA:10073338", "NCIT:C4537", "SNOMEDCT:254976006", "SNOMEDCT:404662003", "medgen:138056", "HP:0009734"], "information_content": 86.3}
{"id": "HP:0009737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lisch nodules", "equivalent_identifiers": ["HP:0009737", "NCIT:C128454", "UMLS:C1860334", "MEDDRA:10081541", "MEDDRA:10081552"], "information_content": 100.0}
{"id": "MONDO:0009151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft lip/palate-ectodermal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0009151", "DOID:0060773", "OMIM:225060", "orphanet:3253", "UMLS:C1857043", "UMLS:C2931488", "MESH:C536726", "MESH:C565603", "NCIT:C122656", "SNOMEDCT:716248001", "medgen:444067"], "information_content": 100.0}
{"id": "HP:0000288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the philtrum", "equivalent_identifiers": ["HP:0000288", "UMLS:C1857045"], "information_content": 81.7}
{"id": "HP:0010709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-4 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0010709", "UMLS:C4021236"], "information_content": 92.8}
{"id": "HP:0011359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dry hair", "equivalent_identifiers": ["HP:0011359", "UMLS:C0277960", "MEDDRA:10013779", "MEDDRA:10019040", "SNOMEDCT:79395009"], "information_content": 100.0}
{"id": "MONDO:0008797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anodontia", "equivalent_identifiers": ["MONDO:0008797", "DOID:13714", "OMIM:206780", "orphanet:99797", "UMLS:C0399352", "UMLS:C4280622", "UMLS:C5779669", "MESH:D000848", "MEDDRA:10002583", "MEDDRA:10077459", "MEDDRA:10082434", "SNOMEDCT:16958000", "SNOMEDCT:234951001", "SNOMEDCT:26624006", "medgen:98313", "icd11.foundation:413433873", "HP:0000674"], "information_content": 88.2}
{"id": "MONDO:0004980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atopic eczema", "equivalent_identifiers": ["MONDO:0004980", "DOID:3310", "OMIM:603165", "EFO:0000274", "UMLS:C0011615", "UMLS:C0086196", "UMLS:C1864155", "UMLS:C2242769", "UMLS:C4280605", "MESH:C566404", "MESH:D003876", "MEDDRA:10001711", "MEDDRA:10001712", "MEDDRA:10003639", "MEDDRA:10003641", "MEDDRA:10012434", "MEDDRA:10012438", "MEDDRA:10014188", "MEDDRA:10014191", "MEDDRA:10014198", "MEDDRA:10021747", "MEDDRA:10089069", "MEDDRA:10089311", "NCIT:C3001", "SNOMEDCT:200773006", "SNOMEDCT:200775004", "SNOMEDCT:24079001", "SNOMEDCT:90823000", "medgen:41502", "icd11.foundation:215767047", "ICD10:L20", "HP:0001047"], "information_content": 80.6}
{"id": "HP:0002296", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive hypotrichosis", "equivalent_identifiers": ["HP:0002296", "UMLS:C1857048"], "information_content": 100.0}
{"id": "HP:0000691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microdontia", "equivalent_identifiers": ["HP:0000691", "UMLS:C0240340", "UMLS:C4280611", "UMLS:C4280612", "MEDDRA:10088215", "SNOMEDCT:32337007"], "information_content": 83.1}
{"id": "MONDO:0009870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pili torti", "equivalent_identifiers": ["MONDO:0009870", "OMIM:261900", "orphanet:2889", "UMLS:C0263491", "MESH:C562485", "SNOMEDCT:17170005", "medgen:82670", "icd11.foundation:813238041", "HP:0003777"], "information_content": 100.0}
{"id": "MONDO:0032863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 41", "equivalent_identifiers": ["MONDO:0032863", "DOID:0111912", "OMIM:618670", "UMLS:C5231455", "medgen:1684739"], "information_content": 100.0}
{"id": "HP:0032562", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapered sperm head", "equivalent_identifiers": ["HP:0032562", "UMLS:C2208973"], "information_content": 100.0}
{"id": "HP:0012208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Immotile sperm", "equivalent_identifiers": ["HP:0012208", "UMLS:C1278278", "UMLS:C4023001", "SNOMEDCT:315220002"], "information_content": 100.0}
{"id": "MONDO:0001913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligospermia", "equivalent_identifiers": ["MONDO:0001913", "DOID:14228", "UMLS:C0028960", "UMLS:C0868910", "MESH:D009845", "MEDDRA:10030300", "MEDDRA:10030301", "MEDDRA:10079294", "NCIT:C34860", "SNOMEDCT:88311004", "medgen:18162", "icd11.foundation:1497721709", "ICD10:N46.1", "ICD9:606.1", "HP:0000798"], "information_content": 88.2}
{"id": "HP:0032559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short sperm flagella", "equivalent_identifiers": ["HP:0032559", "UMLS:C4539787"], "information_content": 100.0}
{"id": "MONDO:0009227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibromatosis, infantile, 1", "equivalent_identifiers": ["MONDO:0009227", "OMIM:228550", "UMLS:C4551572", "MESH:C562978", "NCIT:C176943", "SNOMEDCT:254146000", "medgen:1632352"], "information_content": 92.8}
{"id": "MONDO:0016824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myofibromatosis", "equivalent_identifiers": ["MONDO:0016824", "DOID:0080109", "OMIM.PS:228550", "orphanet:2591", "UMLS:C0206648", "UMLS:C0432284", "MESH:D018224", "NCIT:C3742", "SNOMEDCT:1285183007", "SNOMEDCT:238860001", "SNOMEDCT:73767002", "medgen:140933", "HP:0020135"], "information_content": 87.2}
{"id": "MONDO:0013395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 4", "equivalent_identifiers": ["MONDO:0013395", "DOID:0110372", "OMIM:613731", "UMLS:C3151001", "MESH:C566706", "medgen:462351"], "information_content": 100.0}
{"id": "HP:0000512", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal electroretinogram", "equivalent_identifiers": ["HP:0000512", "UMLS:C0476397", "MEDDRA:10052533", "SNOMEDCT:274524001"], "information_content": 76.9}
{"id": "MONDO:0000913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 2", "equivalent_identifiers": ["MONDO:0000913", "DOID:0110917", "OMIM:616649", "UMLS:C2674219", "medgen:436112"], "information_content": 100.0}
{"id": "HP:0005502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased red cell osmotic fragility", "equivalent_identifiers": ["HP:0005502", "UMLS:C1849478"], "information_content": 100.0}
{"id": "HP:0004444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spherocytosis", "equivalent_identifiers": ["HP:0004444", "NCIT:C85074", "UMLS:C0553720", "MEDDRA:10041511", "SNOMEDCT:17235000"], "information_content": 90.9}
{"id": "HP:0001927", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acanthocytosis", "equivalent_identifiers": ["HP:0001927", "UMLS:C0687751", "MEDDRA:10052483", "MEDDRA:10052512", "MEDDRA:10064504", "SNOMEDCT:250249008"], "information_content": 100.0}
{"id": "MONDO:0007841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coxopodopatellar syndrome", "equivalent_identifiers": ["MONDO:0007841", "DOID:0111382", "OMIM:147891", "orphanet:1509", "UMLS:C1840061", "UMLS:C1868581", "MESH:C535540", "MESH:C536307", "MEDDRA:10086423", "SNOMEDCT:720752007", "medgen:333474", "icd11.foundation:794154672"], "information_content": 100.0}
{"id": "MONDO:0002884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nail disorder", "equivalent_identifiers": ["MONDO:0002884", "DOID:4123", "UMLS:C0027339", "UMLS:C0853087", "MESH:D009260", "MEDDRA:10013110", "MEDDRA:10013239", "MEDDRA:10028684", "MEDDRA:10028694", "MEDDRA:10028696", "MEDDRA:10045750", "SNOMEDCT:17790008", "medgen:10171", "ICD10:L60", "ICD9:703", "HP:0001597"], "information_content": 68.0}
{"id": "HP:0003065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patellar hypoplasia", "equivalent_identifiers": ["HP:0003065", "UMLS:C1840068"], "information_content": 100.0}
{"id": "HP:0005682", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talocalcaneal synostosis", "equivalent_identifiers": ["HP:0005682", "UMLS:C4025155", "UMLS:C4255214"], "information_content": 100.0}
{"id": "HP:0003370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat capital femoral epiphysis", "equivalent_identifiers": ["HP:0003370", "UMLS:C1842155"], "information_content": 100.0}
{"id": "HP:0008784", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide capital femoral epiphyses", "equivalent_identifiers": ["HP:0008784", "UMLS:C4024622"], "information_content": 100.0}
{"id": "HP:0008801", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the lesser trochanter", "equivalent_identifiers": ["HP:0008801", "UMLS:C1840062"], "information_content": 100.0}
{"id": "MONDO:0012624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acyl-CoA dehydrogenase 9 deficiency", "equivalent_identifiers": ["MONDO:0012624", "DOID:0112072", "OMIM:611126", "orphanet:99901", "UMLS:C1970173", "UMLS:C4747517", "MESH:C567006", "MEDDRA:10081518", "SNOMEDCT:725046003", "medgen:1648400"], "information_content": 100.0}
{"id": "MONDO:0005098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stroke disorder", "equivalent_identifiers": ["MONDO:0005098", "EFO:0000712", "UMLS:C0038454", "MESH:D020521", "MEDDRA:10000374", "MEDDRA:10003004", "MEDDRA:10008190", "MEDDRA:10008191", "MEDDRA:10011693", "MEDDRA:10042244", "MEDDRA:10090922", "NCIT:C3390", "SNOMEDCT:230690007", "medgen:52522", "HP:0001297"], "information_content": 82.6}
{"id": "MONDO:0006684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain edema", "equivalent_identifiers": ["MONDO:0006684", "DOID:4724", "EFO:1000845", "UMLS:C0006114", "UMLS:C1527311", "MESH:D001929", "MEDDRA:10006121", "MEDDRA:10008107", "MEDDRA:10008127", "MEDDRA:10014216", "MEDDRA:10014217", "MEDDRA:10030098", "MEDDRA:10048962", "MEDDRA:10055915", "MEDDRA:10058952", "NCIT:C4909", "SNOMEDCT:2032001", "medgen:2337", "HP:0002181"], "information_content": 95.4}
{"id": "HP:0003215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dicarboxylic aciduria", "equivalent_identifiers": ["HP:0003215", "UMLS:C1856432"], "information_content": 75.2}
{"id": "HP:0001414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microvesicular hepatic steatosis", "equivalent_identifiers": ["HP:0001414", "NCIT:C82982", "UMLS:C1850415"], "information_content": 100.0}
{"id": "MONDO:0005021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy", "equivalent_identifiers": ["MONDO:0005021", "DOID:12930", "orphanet:217604", "EFO:0000407", "UMLS:C0007193", "MESH:D002311", "MEDDRA:10010681", "MEDDRA:10056370", "MEDDRA:10056419", "NCIT:C84673", "SNOMEDCT:195021004", "SNOMEDCT:399020009", "medgen:2880", "icd11.foundation:1916294688", "KEGG.DISEASE:05414", "HP:0001644"], "information_content": 70.1}
{"id": "MONDO:0020713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary venoocclusive disease 1", "equivalent_identifiers": ["MONDO:0020713", "DOID:0081268", "OMIM:265450", "UMLS:C3887658", "medgen:854500"], "information_content": 100.0}
{"id": "MONDO:0009937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary venoocclusive disease", "equivalent_identifiers": ["MONDO:0009937", "DOID:5453", "OMIM.PS:265450", "orphanet:31837", "UMLS:C0034091", "UMLS:C4280802", "MESH:D011668", "MEDDRA:10037458", "NCIT:C85039", "SNOMEDCT:89420002", "medgen:18769", "HP:0006518"], "information_content": 92.8}
{"id": "HP:0025180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Centrilobular ground-glass opacification on pulmonary HRCT", "equivalent_identifiers": ["HP:0025180", "UMLS:C4476640"], "information_content": 100.0}
{"id": "HP:0030848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated jugular venous pressure", "equivalent_identifiers": ["HP:0030848", "NCIT:C119206", "UMLS:C0520861", "MEDDRA:10020079", "MEDDRA:10023240", "MEDDRA:10023242", "MEDDRA:10037820", "MEDDRA:10047240", "SNOMEDCT:22447003"], "information_content": 100.0}
{"id": "HP:0031687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally loud pulmonic component of the second heart sound", "equivalent_identifiers": ["HP:0031687", "UMLS:C4703480"], "information_content": 100.0}
{"id": "MONDO:0008933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cephalin lipidosis", "equivalent_identifiers": ["MONDO:0008933", "OMIM:212800", "UMLS:C1859307", "MESH:C565872", "medgen:395225"], "information_content": 100.0}
{"id": "HP:0001743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the spleen", "equivalent_identifiers": ["HP:0001743", "UMLS:C4025749"], "information_content": 67.5}
{"id": "MONDO:0044738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gabriele de Vries syndrome", "equivalent_identifiers": ["MONDO:0044738", "OMIM:617557", "orphanet:506358", "UMLS:C4479652", "NCIT:C165531", "SNOMEDCT:1186730002", "medgen:1375401"], "information_content": 92.8}
{"id": "MONDO:0017094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cortical dysplasia", "equivalent_identifiers": ["MONDO:0017094", "orphanet:268950", "UMLS:C0431380", "UMLS:C1955869", "MESH:D054220", "MEDDRA:10070666", "NCIT:C42088", "NCIT:C84834", "SNOMEDCT:253153000", "medgen:98129", "icd11.foundation:1352548261", "HP:0002539"], "information_content": 81.7}
{"id": "HP:0031834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortopulmonary collateral arteries", "equivalent_identifiers": ["HP:0031834", "UMLS:C4703564"], "information_content": 100.0}
{"id": "HP:0000297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial hypotonia", "equivalent_identifiers": ["HP:0000297", "UMLS:C1845251", "UMLS:C4029280", "UMLS:C4280646"], "information_content": 89.4}
{"id": "HP:0000324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial asymmetry", "equivalent_identifiers": ["HP:0000324", "NCIT:C84702", "UMLS:C1306710", "MEDDRA:10068737", "SNOMEDCT:15253005", "MESH:D005146"], "information_content": 86.3}
{"id": "HP:0006094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger joint hypermobility", "equivalent_identifiers": ["HP:0006094", "UMLS:C0574974", "SNOMEDCT:298193009"], "information_content": 90.9}
{"id": "HP:0002515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waddling gait", "equivalent_identifiers": ["HP:0002515", "UMLS:C0231711", "UMLS:C0231712", "MEDDRA:10066245", "SNOMEDCT:271706000"], "information_content": 100.0}
{"id": "MONDO:0019942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis", "equivalent_identifiers": ["MONDO:0019942", "DOID:0050646", "OMIM.PS:108120", "orphanet:97120", "UMLS:C0265213", "MEDDRA:10083954", "SNOMEDCT:24269006", "medgen:120512", "icd11.foundation:1265239690", "HP:0005684"], "information_content": 77.1}
{"id": "HP:0000074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureteropelvic junction obstruction", "equivalent_identifiers": ["HP:0000074", "NCIT:C99007", "UMLS:C0521619", "MEDDRA:10034232", "MEDDRA:10051749", "MEDDRA:10085353", "SNOMEDCT:95575002"], "information_content": 95.4}
{"id": "MONDO:0020461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiblepharon", "equivalent_identifiers": ["MONDO:0020461", "orphanet:99169", "UMLS:C0344503", "MEDDRA:10056531", "SNOMEDCT:253212001", "medgen:488856", "icd11.foundation:1757021264", "HP:0011225"], "information_content": 92.8}
{"id": "HP:0030051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tip-toe gait", "equivalent_identifiers": ["HP:0030051", "UMLS:C0427144", "UMLS:C1843570", "MEDDRA:10068872", "SNOMEDCT:250018006"], "information_content": 100.0}
{"id": "MONDO:0032859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 40", "equivalent_identifiers": ["MONDO:0032859", "DOID:0111918", "OMIM:618664", "UMLS:C5231451", "medgen:1684662"], "information_content": 100.0}
{"id": "HP:0032560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coiled sperm flagella", "equivalent_identifiers": ["HP:0032560", "UMLS:C4539789"], "information_content": 100.0}
{"id": "HP:0032558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent sperm flagella", "equivalent_identifiers": ["HP:0032558", "UMLS:C4539786"], "information_content": 100.0}
{"id": "MONDO:0010974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 2", "equivalent_identifiers": ["MONDO:0010974", "DOID:0080379", "OMIM:600995", "UMLS:C1868672", "MESH:C536404", "SNOMEDCT:1260194003", "medgen:358380"], "information_content": 100.0}
{"id": "MONDO:0011083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichodental syndrome", "equivalent_identifiers": ["MONDO:0011083", "OMIM:601453", "orphanet:3351", "UMLS:C0406724", "MESH:C536551", "SNOMEDCT:277810000", "medgen:96068", "icd11.foundation:944650339"], "information_content": 100.0}
{"id": "HP:0002213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fine hair", "equivalent_identifiers": ["HP:0002213", "UMLS:C0423867", "SNOMEDCT:247546006"], "information_content": 100.0}
{"id": "MONDO:0019367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Odontodysplasia", "equivalent_identifiers": ["MONDO:0019367", "orphanet:83450", "UMLS:C0206554", "UMLS:C2981132", "MESH:D018126", "SNOMEDCT:66063001", "SNOMEDCT:67504007", "medgen:104891", "icd11.foundation:1516505714", "HP:0000694"], "information_content": 100.0}
{"id": "HP:0002217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slow-growing hair", "equivalent_identifiers": ["HP:0002217", "UMLS:C1832348"], "information_content": 95.4}
{"id": "MONDO:0014181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 20", "equivalent_identifiers": ["MONDO:0014181", "DOID:0060211", "OMIM:615426", "UMLS:C3715156", "medgen:811608"], "information_content": 100.0}
{"id": "HP:0003155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating alkaline phosphatase concentration", "equivalent_identifiers": ["HP:0003155", "UMLS:C0750857", "UMLS:C1314665", "MEDDRA:10001679", "MEDDRA:10040133", "SNOMEDCT:166627004"], "information_content": 85.5}
{"id": "MONDO:0004976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis", "equivalent_identifiers": ["MONDO:0004976", "DOID:332", "orphanet:803", "UMLS:C0002736", "MESH:D000690", "MEDDRA:10002026", "MEDDRA:10052889", "MEDDRA:10090869", "NCIT:C34373", "SNOMEDCT:86044005", "medgen:274", "icd11.foundation:1982355687", "ICD10:G12.21", "ICD9:335.20", "KEGG.DISEASE:05014", "HP:0007354"], "information_content": 74.9}
{"id": "HP:0100299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber inclusion bodies", "equivalent_identifiers": ["HP:0100299", "UMLS:C4022159"], "information_content": 81.3}
{"id": "MONDO:0011576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hyperaldosteronism type II", "equivalent_identifiers": ["MONDO:0011576", "OMIM:605635", "orphanet:404", "UMLS:C1854107", "MESH:C565312", "NCIT:C127162", "SNOMEDCT:703233008", "medgen:340137"], "information_content": 100.0}
{"id": "MONDO:0054737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fraser syndrome 1", "equivalent_identifiers": ["MONDO:0054737", "DOID:0111405", "OMIM:219000", "UMLS:C4551480", "medgen:1639061"], "information_content": 100.0}
{"id": "HP:0002223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent eyebrow", "equivalent_identifiers": ["HP:0002223", "UMLS:C0431448", "UMLS:C0578682", "UMLS:C4280581", "UMLS:C4280582", "MEDDRA:10015976", "SNOMEDCT:253208007", "SNOMEDCT:422441003"], "information_content": 100.0}
{"id": "HP:0000561", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent eyelashes", "equivalent_identifiers": ["HP:0000561", "UMLS:C1843005", "UMLS:C4280626", "UMLS:C4280627"], "information_content": 89.4}
{"id": "HP:0008609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal middle ear morphology", "equivalent_identifiers": ["HP:0008609", "UMLS:C1857456"], "information_content": 71.0}
{"id": "HP:0003191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft ala nasi", "equivalent_identifiers": ["HP:0003191", "UMLS:C1844537", "UMLS:C4476535"], "information_content": 100.0}
{"id": "HP:0001607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subglottic stenosis", "equivalent_identifiers": ["HP:0001607", "UMLS:C0238441", "MEDDRA:10042395", "SNOMEDCT:22668006"], "information_content": 95.4}
{"id": "HP:0000678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dental crowding", "equivalent_identifiers": ["HP:0000678", "NCIT:C62542", "UMLS:C0040433", "UMLS:C1317785", "UMLS:C4280617", "UMLS:C4280618", "MEDDRA:10070074", "SNOMEDCT:12351004", "SNOMEDCT:699222000"], "information_content": 100.0}
{"id": "MONDO:0001305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngostenosis", "equivalent_identifiers": ["MONDO:0001305", "DOID:11527", "UMLS:C0023075", "MESH:D007829", "MEDDRA:10023862", "MEDDRA:10023863", "MEDDRA:10041989", "NCIT:C79608", "SNOMEDCT:75547007", "medgen:7274", "ICD10:J38.6", "ICD9:478.74", "HP:0001602"], "information_content": 95.4}
{"id": "MONDO:0015480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma of superior eyelid", "equivalent_identifiers": ["MONDO:0015480", "orphanet:155884", "UMLS:C1863872", "SNOMEDCT:763132003", "medgen:350283", "HP:0000636"], "information_content": 100.0}
{"id": "MONDO:0020153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptophthalmia", "equivalent_identifiers": ["MONDO:0020153", "DOID:0111716", "orphanet:98562", "UMLS:C0311249", "MEDDRA:10011497", "NCIT:C124520", "SNOMEDCT:400951005", "medgen:81386", "icd11.foundation:740223582", "ICD10:Q11.2", "ICD9:743.06", "HP:0001126"], "information_content": 85.5}
{"id": "HP:0002536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cortical gyration", "equivalent_identifiers": ["HP:0002536", "UMLS:C1856019"], "information_content": 71.1}
{"id": "HP:0004378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the anus", "equivalent_identifiers": ["HP:0004378", "UMLS:C4025329"], "information_content": 78.3}
{"id": "HP:0007993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malformed lacrimal duct", "equivalent_identifiers": ["HP:0007993", "UMLS:C4024757"], "information_content": 100.0}
{"id": "HP:0007633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral microphthalmos", "equivalent_identifiers": ["HP:0007633", "NCIT:C101189", "UMLS:C1843496", "UMLS:C4280421", "UMLS:C4280422", "SNOMEDCT:15987151000119103"], "information_content": 100.0}
{"id": "HP:0000445", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide nose", "equivalent_identifiers": ["HP:0000445", "UMLS:C0426421", "SNOMEDCT:249321001"], "information_content": 100.0}
{"id": "HP:0001551", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal umbilicus morphology", "equivalent_identifiers": ["HP:0001551", "UMLS:C1849338"], "information_content": 86.3}
{"id": "HP:0002244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal small intestine morphology", "equivalent_identifiers": ["HP:0002244", "UMLS:C4025717"], "information_content": 68.7}
{"id": "MONDO:0007880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngeal web", "equivalent_identifiers": ["MONDO:0007880", "OMIM:150360", "orphanet:2374", "UMLS:C0281890", "UMLS:C1835494", "UMLS:C1861439", "UMLS:C2931586", "UMLS:C5936711", "MESH:C537676", "MESH:C563636", "MEDDRA:10023871", "MEDDRA:10047873", "NCIT:C98970", "SNOMEDCT:297159008", "SNOMEDCT:444921008", "medgen:372058", "icd11.foundation:1641764672", "HP:0005950"], "information_content": 100.0}
{"id": "HP:0000183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue muscle weakness", "equivalent_identifiers": ["HP:0000183", "UMLS:C0241437"], "information_content": 100.0}
{"id": "HP:0005352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe T-cell immunodeficiency", "equivalent_identifiers": ["HP:0005352", "UMLS:C4025208"], "information_content": 100.0}
{"id": "HP:0002084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Encephalocele", "equivalent_identifiers": ["HP:0002084"], "information_content": 83.1}
{"id": "HP:6000613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged fetal lungs", "equivalent_identifiers": ["HP:6000613", "UMLS:C5937368"], "information_content": 100.0}
{"id": "MONDO:0007879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "larynx atresia", "equivalent_identifiers": ["MONDO:0007879", "OMIM:150300", "orphanet:1202", "UMLS:C0265756", "UMLS:C1835555", "MESH:C563637", "NCIT:C98972", "SNOMEDCT:64981002", "medgen:78572", "HP:0008750"], "information_content": 100.0}
{"id": "HP:0009601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the thumb", "equivalent_identifiers": ["HP:0009601", "UMLS:C3179508"], "information_content": 80.9}
{"id": "MONDO:0015842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bicornuate uterus", "equivalent_identifiers": ["MONDO:0015842", "orphanet:180134", "UMLS:C0266387", "MESH:D000093663", "MEDDRA:10004550", "SNOMEDCT:289637001", "SNOMEDCT:31401003", "medgen:78599", "icd11.foundation:1965739367", "HP:0000813"], "information_content": 90.9}
{"id": "HP:0009767", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the hand", "equivalent_identifiers": ["HP:0009767", "UMLS:C1848670"], "information_content": 71.9}
{"id": "HP:0008678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal hypoplasia/aplasia", "equivalent_identifiers": ["HP:0008678", "UMLS:C1857453"], "information_content": 84.8}
{"id": "HP:0006714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the sternum", "equivalent_identifiers": ["HP:0006714", "UMLS:C4024990"], "information_content": 86.3}
{"id": "HP:0005325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extension of hair growth on temples to lateral eyebrow", "equivalent_identifiers": ["HP:0005325", "UMLS:C1857455"], "information_content": 100.0}
{"id": "HP:0007925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacrimal duct aplasia", "equivalent_identifiers": ["HP:0007925", "UMLS:C4024773"], "information_content": 100.0}
{"id": "HP:0004112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline nasal groove", "equivalent_identifiers": ["HP:0004112", "UMLS:C4025412"], "information_content": 100.0}
{"id": "HP:0001362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calvarial skull defect", "equivalent_identifiers": ["HP:0001362", "UMLS:C4025787", "UMLS:C4280595", "UMLS:C4280596"], "information_content": 100.0}
{"id": "HP:0003183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide pubic symphysis", "equivalent_identifiers": ["HP:0003183", "UMLS:C1857190"], "information_content": 100.0}
{"id": "HP:0008665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clitoral hypertrophy", "equivalent_identifiers": ["HP:0008665", "UMLS:C0156394", "MEDDRA:10009309", "MEDDRA:10014838", "MEDDRA:10014845", "MEDDRA:10020886", "MEDDRA:10056881", "SNOMEDCT:80212005"], "information_content": 100.0}
{"id": "MONDO:0015411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial cleft", "equivalent_identifiers": ["MONDO:0015411", "orphanet:141229", "UMLS:C0685787", "NCIT:C124510", "SNOMEDCT:92821006", "medgen:146898", "icd11.foundation:11389088", "HP:0002006"], "information_content": 78.8}
{"id": "MONDO:0009682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, congenital, with rapid progression", "equivalent_identifiers": ["MONDO:0009682", "OMIM:254100", "UMLS:C1850840", "MESH:C564983", "medgen:338135"], "information_content": 100.0}
{"id": "MONDO:0957215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 20", "equivalent_identifiers": ["MONDO:0957215", "DOID:0081352", "OMIM:620310", "UMLS:C5830393", "medgen:1841029"], "information_content": 100.0}
{"id": "HP:0034675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toe joint contracture", "equivalent_identifiers": ["HP:0034675", "UMLS:C0409361", "SNOMEDCT:239743009"], "information_content": 79.0}
{"id": "HP:0030319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weakness of facial musculature", "equivalent_identifiers": ["HP:0030319", "UMLS:C4022514"], "information_content": 82.6}
{"id": "HP:0010942", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Echogenic intracardiac focus", "equivalent_identifiers": ["HP:0010942", "UMLS:C4023634"], "information_content": 100.0}
{"id": "HP:0009381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short finger", "equivalent_identifiers": ["HP:0009381", "UMLS:C0239594", "UMLS:C1844548", "SNOMEDCT:249765007"], "information_content": 76.5}
{"id": "HP:0009046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Difficulty running", "equivalent_identifiers": ["HP:0009046", "UMLS:C0560346", "SNOMEDCT:282479002"], "information_content": 100.0}
{"id": "HP:0003803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type 1 muscle fiber predominance", "equivalent_identifiers": ["HP:0003803", "UMLS:C1854387"], "information_content": 100.0}
{"id": "HP:0003798", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nemaline bodies", "equivalent_identifiers": ["HP:0003798", "UMLS:C3808039"], "information_content": 100.0}
{"id": "HP:0034391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elbow contracture", "equivalent_identifiers": ["HP:0034391", "UMLS:C1833142", "SNOMEDCT:239734000"], "information_content": 92.8}
{"id": "MONDO:0030088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus, permanent neonatal 3", "equivalent_identifiers": ["MONDO:0030088", "OMIM:618857", "UMLS:C5394303", "medgen:1717271"], "information_content": 100.0}
{"id": "HP:0003698", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Difficulty standing", "equivalent_identifiers": ["HP:0003698", "UMLS:C0241237", "MEDDRA:10050218", "MEDDRA:10050256", "SNOMEDCT:249902000"], "information_content": 100.0}
{"id": "HP:0012434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed early-childhood social milestone development", "equivalent_identifiers": ["HP:0012434", "UMLS:C4022906"], "information_content": 92.8}
{"id": "HP:0002919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ketonuria", "equivalent_identifiers": ["HP:0002919", "NCIT:C122512", "UMLS:C0162275", "MEDDRA:10000419", "MEDDRA:10023388", "SNOMEDCT:274783007", "SNOMEDCT:36815008"], "information_content": 87.2}
{"id": "HP:0011182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interictal epileptiform activity", "equivalent_identifiers": ["HP:0011182", "UMLS:C4023491"], "information_content": 72.7}
{"id": "HP:0002305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Athetosis", "equivalent_identifiers": ["HP:0002305", "NCIT:C116574", "UMLS:C0004158", "UMLS:C1845265", "MEDDRA:10003620", "SNOMEDCT:44913001", "SNOMEDCT:58593005", "MESH:D001264"], "information_content": 90.9}
{"id": "MONDO:0009597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal chondrodysplasia, Spahr type", "equivalent_identifiers": ["MONDO:0009597", "OMIM:250400", "orphanet:2501", "UMLS:C0432225", "MESH:C537353", "SNOMEDCT:254084008", "medgen:140928", "icd11.foundation:1856002752"], "information_content": 100.0}
{"id": "HP:0003498", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disproportionate short stature", "equivalent_identifiers": ["HP:0003498", "UMLS:C0878659", "UMLS:C1846797", "SNOMEDCT:772086000"], "information_content": 77.3}
{"id": "HP:0006409", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive leg bowing", "equivalent_identifiers": ["HP:0006409", "UMLS:C1855191"], "information_content": 100.0}
{"id": "MONDO:0000138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal chondrodysplasia", "equivalent_identifiers": ["MONDO:0000138", "UMLS:C0265290", "SNOMEDCT:28681006", "medgen:120528", "HP:0005871"], "information_content": 100.0}
{"id": "HP:0030839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knee pain", "equivalent_identifiers": ["HP:0030839", "UMLS:C0231749", "UMLS:C4476846", "MEDDRA:10000447", "MEDDRA:10023477", "MEDDRA:10033445", "MEDDRA:10033458", "MEDDRA:10033512", "MEDDRA:10064238", "SNOMEDCT:1003721002", "SNOMEDCT:1003722009", "SNOMEDCT:30989003"], "information_content": 88.2}
{"id": "MONDO:0009943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyle disease", "equivalent_identifiers": ["MONDO:0009943", "DOID:0080019", "OMIM:265900", "orphanet:3005", "UMLS:C0265294", "UMLS:C5194606", "MESH:C536252", "MEDDRA:10066147", "MEDDRA:10066148", "SNOMEDCT:27837003", "medgen:82704", "icd11.foundation:651364947", "HP:0100255"], "information_content": 90.9}
{"id": "MONDO:0017178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteochondritis", "equivalent_identifiers": ["MONDO:0017178", "DOID:84", "orphanet:2764", "UMLS:C0029420", "UMLS:C0029421", "MESH:D010007", "MESH:D010008", "MEDDRA:10031230", "MEDDRA:10031231", "NCIT:C34877", "NCIT:C34878", "SNOMEDCT:70736000", "SNOMEDCT:82562007", "medgen:10494", "icd11.foundation:467851106", "ICD10:M93.2", "ICD9:732.7", "HP:0010886"], "information_content": 95.4}
{"id": "HP:0006385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short leg", "equivalent_identifiers": ["HP:0006385", "UMLS:C0426901", "SNOMEDCT:249786007"], "information_content": 95.4}
{"id": "HP:0004979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal sclerosis", "equivalent_identifiers": ["HP:0004979", "UMLS:C3552526"], "information_content": 90.9}
{"id": "MONDO:0009217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi-like syndrome", "equivalent_identifiers": ["MONDO:0009217", "DOID:0090066", "OMIM:227850", "UMLS:C0151638", "MESH:C536855", "MEDDRA:10016220", "MEDDRA:10042805", "SNOMEDCT:236469003", "medgen:56237"], "information_content": 95.4}
{"id": "HP:0007606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple cutaneous malignancies", "equivalent_identifiers": ["HP:0007606", "UMLS:C4024834"], "information_content": 100.0}
{"id": "HP:0005939", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple bilateral pneumothoraces", "equivalent_identifiers": ["HP:0005939", "UMLS:C4025099"], "information_content": 100.0}
{"id": "MONDO:0009393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HHH syndrome", "equivalent_identifiers": ["MONDO:0009393", "DOID:0050720", "OMIM:238970", "orphanet:415", "UMLS:C0268540", "MESH:C538380", "MEDDRA:10084220", "MEDDRA:10084222", "MEDDRA:10084223", "MEDDRA:10084224", "MEDDRA:10084225", "NCIT:C129029", "SNOMEDCT:30287008", "medgen:82815"], "information_content": 100.0}
{"id": "HP:0006846", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute encephalopathy", "equivalent_identifiers": ["HP:0006846", "NCIT:C122815", "UMLS:C1306587", "MEDDRA:10014626"], "information_content": 92.8}
{"id": "HP:0001410", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased liver function", "equivalent_identifiers": ["HP:0001410", "NCIT:C50634", "UMLS:C0086565", "UMLS:C0232744", "UMLS:C3279149", "MEDDRA:10017475", "MEDDRA:10017476", "MEDDRA:10019657", "MEDDRA:10019670", "MEDDRA:10019671", "MEDDRA:10019673", "MEDDRA:10019674", "MEDDRA:10021520", "SNOMEDCT:75183008", "SNOMEDCT:77981007"], "information_content": 85.5}
{"id": "HP:0200119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute hepatitis", "equivalent_identifiers": ["HP:0200119", "NCIT:C35331", "UMLS:C0267797", "MEDDRA:10019727", "SNOMEDCT:37871000"], "information_content": 87.2}
{"id": "HP:0001310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysmetria", "equivalent_identifiers": ["HP:0001310", "NCIT:C181003", "UMLS:C0234162", "UMLS:C4703369", "UMLS:C4703370", "MEDDRA:10013936", "SNOMEDCT:32566006"], "information_content": 90.9}
{"id": "MONDO:0009796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gyrate atrophy", "equivalent_identifiers": ["MONDO:0009796", "DOID:1415", "OMIM:258870", "orphanet:414", "UMLS:C0018425", "UMLS:C0599035", "MESH:D015799", "MEDDRA:10087243", "NCIT:C84744", "SNOMEDCT:276426004", "SNOMEDCT:314467007", "SNOMEDCT:33985005", "medgen:6695", "HP:0012026"], "information_content": 95.4}
{"id": "HP:0034464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Homocitrullinuria", "equivalent_identifiers": ["HP:0034464", "UMLS:C2673490"], "information_content": 100.0}
{"id": "HP:0001987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperammonemia", "equivalent_identifiers": ["HP:0001987", "NCIT:C98950", "UMLS:C0220994", "UMLS:C5574662", "MEDDRA:10020575", "MEDDRA:10020576", "SNOMEDCT:9360008", "MESH:D022124"], "information_content": 80.2}
{"id": "HP:0002038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protein avoidance", "equivalent_identifiers": ["HP:0002038", "UMLS:C1839531"], "information_content": 100.0}
{"id": "HP:0002311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incoordination", "equivalent_identifiers": ["HP:0002311", "UMLS:C0520966", "MEDDRA:10010947", "MEDDRA:10010948", "MEDDRA:10010950", "MEDDRA:10021649", "MEDDRA:10023609", "SNOMEDCT:281016006", "SNOMEDCT:302289002"], "information_content": 90.9}
{"id": "HP:0001289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Confusion", "equivalent_identifiers": ["HP:0001289", "NCIT:C37928", "UMLS:C0009676", "MEDDRA:10010298", "MEDDRA:10010300", "MEDDRA:10010301", "MEDDRA:10010304", "MEDDRA:10010305", "MEDDRA:10027350", "MEDDRA:10050462", "SNOMEDCT:286933003", "MESH:D003221"], "information_content": 83.6}
{"id": "HP:0002075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysdiadochokinesis", "equivalent_identifiers": ["HP:0002075", "UMLS:C0234979", "MEDDRA:10013896", "MEDDRA:10013897", "SNOMEDCT:23133003"], "information_content": 100.0}
{"id": "HP:0001259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coma", "equivalent_identifiers": ["HP:0001259", "NCIT:C34497", "UMLS:C0009421", "UMLS:C0085628", "UMLS:C0242670", "UMLS:C0855240", "MEDDRA:10009162", "MEDDRA:10010071", "MEDDRA:10010081", "MEDDRA:10029985", "MEDDRA:10029986", "MEDDRA:10034715", "MEDDRA:10042264", "MEDDRA:10044334", "MEDDRA:10047180", "MEDDRA:10058472", "SNOMEDCT:24473007", "SNOMEDCT:371632003", "SNOMEDCT:89458003", "MESH:D003128", "MESH:D018458", "MESH:D053608"], "information_content": 89.4}
{"id": "MONDO:0013489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 89", "equivalent_identifiers": ["MONDO:0013489", "DOID:0110534", "OMIM:613916", "UMLS:C3151351", "medgen:462701"], "information_content": 100.0}
{"id": "HP:0001756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vestibular hyporeflexia", "equivalent_identifiers": ["HP:0001756", "UMLS:C1848606"], "information_content": 95.4}
{"id": "MONDO:0030463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 58", "equivalent_identifiers": ["MONDO:0030463", "DOID:0112352", "OMIM:619585", "UMLS:C5562008", "medgen:1794218"], "information_content": 100.0}
{"id": "HP:0033393", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregularly shaped sperm tail", "equivalent_identifiers": ["HP:0033393", "UMLS:C5233737"], "information_content": 100.0}
{"id": "HP:0034011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced progressive sperm motility", "equivalent_identifiers": ["HP:0034011", "UMLS:C5436680"], "information_content": 100.0}
{"id": "MONDO:0012345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acral peeling skin syndrome", "equivalent_identifiers": ["MONDO:0012345", "DOID:0070521", "OMIM:609796", "orphanet:263534", "UMLS:C1853354", "MESH:C536316", "MEDDRA:10078538", "SNOMEDCT:709416009", "medgen:342862"], "information_content": 100.0}
{"id": "HP:0034838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleavage at junction of stratum corneum and stratum granulosum", "equivalent_identifiers": ["HP:0034838", "UMLS:C2678352"], "information_content": 100.0}
{"id": "HP:0040189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scaling skin", "equivalent_identifiers": ["HP:0040189", "NCIT:C111657", "UMLS:C0237849", "MEDDRA:10012528", "MEDDRA:10015657", "MEDDRA:10015658", "MEDDRA:10015661", "MEDDRA:10016749", "MEDDRA:10040826", "MEDDRA:10040827", "MEDDRA:10040844", "MEDDRA:10040908", "SNOMEDCT:14411002", "SNOMEDCT:271767006"], "information_content": 86.3}
{"id": "MONDO:0012740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 22q11.2 deletion syndrome, distal", "equivalent_identifiers": ["MONDO:0012740", "DOID:0060413", "OMIM:611867", "orphanet:261330", "UMLS:C2678480", "UMLS:C4518343", "MESH:C567511", "SNOMEDCT:734029004", "medgen:395634"], "information_content": 100.0}
{"id": "HP:0000708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical behavior", "equivalent_identifiers": ["HP:0000708", "NCIT:C122430", "NCIT:C35470", "UMLS:C0004930", "UMLS:C0004941", "UMLS:C0233514", "UMLS:C5886745", "MEDDRA:10000118", "MEDDRA:10004203", "MEDDRA:10004204", "MEDDRA:10004206", "MEDDRA:10004207", "MEDDRA:10004210", "MEDDRA:10013190", "MEDDRA:10061422", "MEDDRA:10079615", "SNOMEDCT:25786006", "SNOMEDCT:277843001", "SNOMEDCT:417350008", "MESH:D000066553", "MESH:D001526"], "information_content": 51.9}
{"id": "HP:0030680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cardiovascular system morphology", "equivalent_identifiers": ["HP:0030680", "UMLS:C4049796"], "information_content": 49.8}
{"id": "MONDO:0008173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachyonychia congenita 1", "equivalent_identifiers": ["MONDO:0008173", "OMIM:167200", "UMLS:C1706595", "MEDDRA:10080089", "SNOMEDCT:39427000", "medgen:353335"], "information_content": 100.0}
{"id": "MONDO:0004844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leukokeratosis", "equivalent_identifiers": ["MONDO:0004844", "DOID:9655", "UMLS:C0023532", "UMLS:C1112530", "UMLS:C1704317", "MESH:D007972", "MEDDRA:10024392", "MEDDRA:10024393", "MEDDRA:10024396", "MEDDRA:10024398", "MEDDRA:10030982", "MEDDRA:10052579", "MEDDRA:10056766", "NCIT:C3187", "NCIT:C36262", "SNOMEDCT:414603003", "SNOMEDCT:773540001", "SNOMEDCT:9187004", "medgen:9738", "ICD10:K13.21", "ICD9:528.6", "HP:0002745"], "information_content": 82.6}
{"id": "MONDO:0957545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2I", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0957545", "OMIM:620462", "UMLS:C5830685", "medgen:1841321"], "information_content": 100.0}
{"id": "HP:0012666", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severely reduced left ventricular ejection fraction", "equivalent_identifiers": ["HP:0012666", "UMLS:C4022790"], "information_content": 100.0}
{"id": "HP:0004755", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supraventricular tachycardia", "equivalent_identifiers": ["HP:0004755", "NCIT:C35061", "UMLS:C0039240", "UMLS:C1698480", "MEDDRA:10042604", "MEDDRA:10043084", "MEDDRA:10065342", "SNOMEDCT:6456007", "MESH:D013617"], "information_content": 80.9}
{"id": "MONDO:0009473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isotretinoin-like syndrome", "equivalent_identifiers": ["MONDO:0009473", "OMIM:243440", "orphanet:2306", "UMLS:C0432364", "MESH:C535542", "SNOMEDCT:722006004", "medgen:96600"], "information_content": 95.4}
{"id": "MONDO:0019780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anotia", "equivalent_identifiers": ["MONDO:0019780", "orphanet:93976", "UMLS:C0702139", "UMLS:C1408788", "MEDDRA:10002654", "MEDDRA:10010319", "MEDDRA:10010378", "SNOMEDCT:57436000", "medgen:152377", "icd11.foundation:2056675356", "HP:0009892"], "information_content": 90.9}
{"id": "HP:0000932", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal posterior cranial fossa morphology", "equivalent_identifiers": ["HP:0000932", "UMLS:C3280768"], "information_content": 76.9}
{"id": "HP:0001710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conotruncal defect", "equivalent_identifiers": ["HP:0001710", "UMLS:C1853238"], "information_content": 81.3}
{"id": "MONDO:0859478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, X-linked, 6", "equivalent_identifiers": ["MONDO:0859478", "DOID:0070597", "OMIM:301101", "UMLS:C5829562", "medgen:1840198"], "information_content": 100.0}
{"id": "HP:0000032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal male external genitalia morphology", "equivalent_identifiers": ["HP:0000032", "UMLS:C4025897"], "information_content": 65.2}
{"id": "HP:0012207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced sperm motility", "equivalent_identifiers": ["HP:0012207", "UMLS:C4023002", "UMLS:C4082176", "SNOMEDCT:24463005"], "information_content": 95.4}
{"id": "HP:0033525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent sperm axoneme central pair complex", "equivalent_identifiers": ["HP:0033525", "UMLS:C5539658"], "information_content": 100.0}
{"id": "HP:0032561", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microcephalic sperm head", "equivalent_identifiers": ["HP:0032561", "UMLS:C4693760"], "information_content": 100.0}
{"id": "MONDO:0009329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary venoocclusive disease 2", "equivalent_identifiers": ["MONDO:0009329", "DOID:0081269", "OMIM:234810", "orphanet:199241", "UMLS:C0340548", "UMLS:C0340848", "MESH:C535861", "MEDDRA:10077389", "MEDDRA:10077396", "SNOMEDCT:233949008", "SNOMEDCT:234161007", "medgen:90956", "HP:0005954"], "information_content": 100.0}
{"id": "HP:0045051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased DLCO", "equivalent_identifiers": ["HP:0045051", "UMLS:C4073175"], "information_content": 100.0}
{"id": "HP:0100721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mediastinal lymphadenopathy", "equivalent_identifiers": ["HP:0100721", "UMLS:C0520743", "MEDDRA:10025205", "MEDDRA:10027075", "SNOMEDCT:52324001"], "information_content": 100.0}
{"id": "HP:0012432", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic fatigue", "equivalent_identifiers": ["HP:0012432", "UMLS:C0518656", "MEDDRA:10066564"], "information_content": 100.0}
{"id": "MONDO:0013120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 5", "equivalent_identifiers": ["MONDO:0013120", "DOID:0111776", "OMIM:613080", "UMLS:C2751317", "MESH:C567766", "medgen:414349"], "information_content": 100.0}
{"id": "HP:0000055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal female external genitalia morphology", "equivalent_identifiers": ["HP:0000055", "UMLS:C4021822"], "information_content": 72.4}
{"id": "HP:0030345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating luteinizing hormone concentration", "equivalent_identifiers": ["HP:0030345", "UMLS:C0580438", "SNOMEDCT:166374003"], "information_content": 89.4}
{"id": "HP:0008232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating follicle stimulating hormone level", "equivalent_identifiers": ["HP:0008232", "UMLS:C4021550"], "information_content": 100.0}
{"id": "HP:0011731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of circulating cortisol level", "equivalent_identifiers": ["HP:0011731", "UMLS:C4023214"], "information_content": 85.5}
{"id": "MONDO:0008083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ceroid lipofuscinosis, neuronal, 4 (Kufs type)", "equivalent_identifiers": ["MONDO:0008083", "DOID:0110720", "OMIM:162350", "orphanet:228343", "UMLS:C1834207", "UMLS:C4284284", "NCIT:C128116", "medgen:320287", "ICD10:E75.4"], "information_content": 100.0}
{"id": "HP:0002074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased neuronal autofluorescent lipopigment", "equivalent_identifiers": ["HP:0002074", "UMLS:C4020857", "UMLS:C4025728"], "information_content": 100.0}
{"id": "HP:0002071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of extrapyramidal motor function", "equivalent_identifiers": ["HP:0002071", "NCIT:C79593", "UMLS:C0015371", "UMLS:C0234133", "MEDDRA:10015832", "MEDDRA:10015835", "MEDDRA:10015836", "MEDDRA:10042804", "SNOMEDCT:43378000", "SNOMEDCT:76349003"], "information_content": 77.1}
{"id": "HP:0003208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "equivalent_identifiers": ["HP:0003208", "UMLS:C1836851"], "information_content": 100.0}
{"id": "HP:0008765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Auditory hallucination", "equivalent_identifiers": ["HP:0008765", "NCIT:C118174", "UMLS:C0233762", "MEDDRA:10003785", "MEDDRA:10019064", "MEDDRA:10019070", "SNOMEDCT:45150006"], "information_content": 95.4}
{"id": "HP:0003657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vascular granular osmiophilic material deposition", "equivalent_identifiers": ["HP:0003657", "UMLS:C1859833"], "information_content": 100.0}
{"id": "HP:0003226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectilinear intracellular accumulation of autofluorescent lipopigment storage material", "equivalent_identifiers": ["HP:0003226", "UMLS:C1850447"], "information_content": 100.0}
{"id": "HP:0003205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material", "equivalent_identifiers": ["HP:0003205", "UMLS:C1836852"], "information_content": 95.4}
{"id": "MONDO:0100093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonus, familial, 1", "equivalent_identifiers": ["MONDO:0100093", "OMIM:614937", "UMLS:C3539916", "medgen:761667"], "information_content": 100.0}
{"id": "HP:0034360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Action myoclonus", "equivalent_identifiers": ["HP:0034360", "UMLS:C0021712", "UMLS:C0751354", "SNOMEDCT:27572006"], "information_content": 100.0}
{"id": "MONDO:0013600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "insomnia", "equivalent_identifiers": ["MONDO:0013600", "EFO:0004698", "UMLS:C0917801", "UMLS:C4477058", "MESH:D007319", "MEDDRA:10022437", "MEDDRA:10022442", "MEDDRA:10041017", "MEDDRA:10078083", "NCIT:C28286", "SNOMEDCT:193462001", "medgen:214589", "HP:0100785"], "information_content": 84.2}
{"id": "MONDO:0014164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 11", "equivalent_identifiers": ["MONDO:0014164", "OMIM:615397", "UMLS:C3809352", "medgen:815682"], "information_content": 100.0}
{"id": "MONDO:0005881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligohydramnios", "equivalent_identifiers": ["MONDO:0005881", "DOID:12215", "EFO:0007401", "UMLS:C0079924", "UMLS:C0740948", "UMLS:C3550658", "MESH:D016104", "MEDDRA:10030289", "MEDDRA:10075866", "MEDDRA:10075869", "NCIT:C92839", "SNOMEDCT:59566000", "medgen:86974", "icd11.foundation:262953341", "ICD10:O41.0", "ICD9:658.0", "HP:0001562"], "information_content": 95.4}
{"id": "MONDO:0017080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "occipital encephalocele", "equivalent_identifiers": ["MONDO:0017080", "orphanet:268823", "UMLS:C0014067", "SNOMEDCT:42376006", "medgen:4935", "icd11.foundation:1075031814", "HP:0002085"], "information_content": 100.0}
{"id": "MONDO:0013567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 3", "equivalent_identifiers": ["MONDO:0013567", "DOID:0110108", "OMIM:614089", "UMLS:C3279790", "MESH:C563540", "medgen:481420"], "information_content": 100.0}
{"id": "MONDO:0975952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cavernous malformations 5", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0975952", "OMIM:621032", "UMLS:C5975541"], "information_content": 100.0}
{"id": "MONDO:0000820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cavernous malformation", "equivalent_identifiers": ["MONDO:0000820", "DOID:0060669", "UMLS:C2919945", "MEDDRA:10071747", "NCIT:C84626", "SNOMEDCT:444869007", "medgen:418825", "icd11.foundation:916773262", "HP:0033522"], "information_content": 87.2}
{"id": "HP:0002170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intracranial hemorrhage", "equivalent_identifiers": ["HP:0002170", "EFO:0000551", "NCIT:C50438", "UMLS:C0151699", "MEDDRA:10005121", "MEDDRA:10018985", "MEDDRA:10019552", "MEDDRA:10022760", "MEDDRA:10022762", "MEDDRA:10022763", "MEDDRA:10045980", "MEDDRA:10045981", "MEDDRA:10055295", "MEDDRA:10073792", "SNOMEDCT:1386000", "MESH:D020300"], "information_content": 76.9}
{"id": "MONDO:0014800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive scapulohumeroperoneal distal myopathy", "equivalent_identifiers": ["MONDO:0014800", "OMIM:616852", "orphanet:447977", "UMLS:C4225181", "SNOMEDCT:1217226000", "medgen:905125"], "information_content": 100.0}
{"id": "HP:0031189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wrist drop", "equivalent_identifiers": ["HP:0031189", "UMLS:C0231666", "MEDDRA:10048046", "MEDDRA:10048047", "SNOMEDCT:59349003"], "information_content": 100.0}
{"id": "HP:0009130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand muscle atrophy", "equivalent_identifiers": ["HP:0009130", "UMLS:C0239830"], "information_content": 92.8}
{"id": "HP:0009025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased connective tissue", "equivalent_identifiers": ["HP:0009025", "UMLS:C1866021"], "information_content": 87.2}
{"id": "HP:0001315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tendon reflexes", "equivalent_identifiers": ["HP:0001315", "UMLS:C1866934"], "information_content": 79.6}
{"id": "MONDO:0009114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital sucrase-isomaltase deficiency", "equivalent_identifiers": ["MONDO:0009114", "DOID:0111633", "OMIM:222900", "orphanet:35122", "UMLS:C1283620", "UMLS:C1291487", "MESH:C538139", "MEDDRA:10066387", "NCIT:C128190", "SNOMEDCT:124467005", "SNOMEDCT:360854006", "SNOMEDCT:78373000", "medgen:220924", "icd11.foundation:1817406536", "ICD10:E74.31"], "information_content": 87.2}
{"id": "HP:0033597", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased mucosal sucrase-isomaltase activity", "equivalent_identifiers": ["HP:0033597", "UMLS:C5539709"], "information_content": 100.0}
{"id": "MONDO:0020712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 1", "equivalent_identifiers": ["MONDO:0020712", "DOID:0111778", "OMIM:400044", "UMLS:C2748896", "UMLS:C2748897", "MESH:C567574", "MESH:C567575", "NCIT:C128188", "medgen:412662"], "information_content": 100.0}
{"id": "MONDO:0010768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gonadoblastoma", "equivalent_identifiers": ["MONDO:0010768", "DOID:3301", "UMLS:C0206661", "MESH:D018238", "MEDDRA:10018506", "NCIT:C3754", "SNOMEDCT:1162858007", "SNOMEDCT:74751003", "medgen:104912", "HP:0000150"], "information_content": 88.2}
{"id": "HP:0011969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating luteinizing hormone level", "equivalent_identifiers": ["HP:0011969", "UMLS:C4023101"], "information_content": 95.4}
{"id": "HP:0000140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the menstrual cycle", "equivalent_identifiers": ["HP:0000140", "UMLS:C3549779", "UMLS:C4025888"], "information_content": 82.6}
{"id": "HP:0008187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of secondary sex characteristics", "equivalent_identifiers": ["HP:0008187", "UMLS:C4021551"], "information_content": 100.0}
{"id": "HP:0008723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gonadal dysgenesis with female appearance, male", "equivalent_identifiers": ["HP:0008723", "UMLS:C4020788", "UMLS:C4024632"], "information_content": 100.0}
{"id": "HP:0000037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Male pseudohermaphroditism", "equivalent_identifiers": ["HP:0000037", "UMLS:C0238395", "MEDDRA:10025515", "MEDDRA:10037124", "SNOMEDCT:111332007"], "information_content": 90.9}
{"id": "MONDO:0013130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 4", "equivalent_identifiers": ["MONDO:0013130", "DOID:0060836", "OMIM:613094", "UMLS:C2751307", "MESH:C567757", "medgen:414346"], "information_content": 100.0}
{"id": "HP:0010469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent testis", "equivalent_identifiers": ["HP:0010469", "UMLS:C0342526", "UMLS:C4023816", "MEDDRA:10050590", "SNOMEDCT:237804005"], "information_content": 100.0}
{"id": "MONDO:0011205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medium chain 3-ketoacyl-Coa thiolase deficiency", "equivalent_identifiers": ["MONDO:0011205", "OMIM:602199", "UMLS:C1865781", "MESH:C566566", "medgen:356367"], "information_content": 100.0}
{"id": "HP:0002913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myoglobinuria", "equivalent_identifiers": ["HP:0002913", "NCIT:C114705", "UMLS:C0027080", "MEDDRA:10028627", "MEDDRA:10028629", "MEDDRA:10046646", "SNOMEDCT:48165008", "MESH:D009212"], "information_content": 90.9}
{"id": "MONDO:0000440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metabolic acidosis", "equivalent_identifiers": ["MONDO:0000440", "DOID:0050758", "UMLS:C0220981", "MEDDRA:10000492", "MEDDRA:10027417", "MEDDRA:10027419", "NCIT:C28228", "SNOMEDCT:59455009", "medgen:65117", "HP:0001942"], "information_content": 82.6}
{"id": "MONDO:0013970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branched-chain keto acid dehydrogenase kinase deficiency", "equivalent_identifiers": ["MONDO:0013970", "DOID:0090126", "OMIM:614923", "orphanet:308410", "UMLS:C3554078", "medgen:766992"], "information_content": 100.0}
{"id": "HP:0002312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clumsiness", "equivalent_identifiers": ["HP:0002312", "UMLS:C0233844", "UMLS:C0234981", "MEDDRA:10009696", "MEDDRA:10017472", "SNOMEDCT:7006003"], "information_content": 100.0}
{"id": "HP:0500194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF isoleucine concentration", "equivalent_identifiers": ["HP:0500194", "UMLS:C5139579"], "information_content": 100.0}
{"id": "HP:0011171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simple febrile seizure", "equivalent_identifiers": ["HP:0011171", "UMLS:C0149886", "MEDDRA:10076426", "SNOMEDCT:432354000"], "information_content": 100.0}
{"id": "HP:0500190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF leucine concentration", "equivalent_identifiers": ["HP:0500190", "UMLS:C5139575"], "information_content": 100.0}
{"id": "HP:0007359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial Seizure", "equivalent_identifiers": ["HP:0007359", "NCIT:C50689", "UMLS:C0751495", "MEDDRA:10010920", "MEDDRA:10016838", "MEDDRA:10016843", "MEDDRA:10034089", "MEDDRA:10061334", "SNOMEDCT:29753000"], "information_content": 64.1}
{"id": "HP:0011123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermatitis", "equivalent_identifiers": ["HP:0011123", "UMLS:C0011603", "UMLS:C3875321", "MEDDRA:10012431", "MEDDRA:10012478", "MEDDRA:10040876", "MEDDRA:10062249", "MEDDRA:10087777", "MP:0004947", "SNOMEDCT:703938007"], "information_content": 68.2}
{"id": "HP:0500188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF valine concentration", "equivalent_identifiers": ["HP:0500188", "UMLS:C5139573"], "information_content": 82.6}
{"id": "HP:0500144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoisoleucinemia", "equivalent_identifiers": ["HP:0500144", "UMLS:C4732899"], "information_content": 95.4}
{"id": "HP:0500143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoleucinemia", "equivalent_identifiers": ["HP:0500143", "UMLS:C4732898"], "information_content": 95.4}
{"id": "HP:0005326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic philtrum", "equivalent_identifiers": ["HP:0005326", "UMLS:C1856886"], "information_content": 100.0}
{"id": "HP:0011147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Typical absence seizure", "equivalent_identifiers": ["HP:0011147", "UMLS:C5551411", "SNOMEDCT:1173024006"], "information_content": 90.9}
{"id": "HP:0000422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal bridge morphology", "equivalent_identifiers": ["HP:0000422", "UMLS:C4021805"], "information_content": 81.7}
{"id": "HP:0500132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypovalinemia", "equivalent_identifiers": ["HP:0500132", "UMLS:C4732889"], "information_content": 95.4}
{"id": "MONDO:0010660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 9", "equivalent_identifiers": ["MONDO:0010660", "DOID:0112034", "OMIM:309549", "UMLS:C0796215", "MESH:C563137", "medgen:167112"], "information_content": 100.0}
{"id": "MONDO:0958030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 118", "equivalent_identifiers": ["MONDO:0958030", "DOID:0061084", "OMIM:301115", "UMLS:C5882665", "medgen:1852539"], "information_content": 100.0}
{"id": "HP:0020086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BCGitis", "equivalent_identifiers": ["HP:0020086", "UMLS:C5139070"], "information_content": 100.0}
{"id": "MONDO:0014158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 16", "equivalent_identifiers": ["MONDO:0014158", "DOID:0111124", "OMIM:615382", "UMLS:C3809320", "SNOMEDCT:444558002", "medgen:815650"], "information_content": 100.0}
{"id": "HP:0001405", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periportal fibrosis", "equivalent_identifiers": ["HP:0001405", "NCIT:C172824", "UMLS:C1849766", "SNOMEDCT:870517000"], "information_content": 100.0}
{"id": "HP:0000105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged kidney", "equivalent_identifiers": ["HP:0000105", "UMLS:C0542518", "MEDDRA:10048469", "SNOMEDCT:300444006"], "information_content": 92.8}
{"id": "MONDO:0008713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrodermatitis enteropathica", "equivalent_identifiers": ["MONDO:0008713", "DOID:0050605", "OMIM:201100", "orphanet:37", "UMLS:C0221036", "MESH:C538178", "MEDDRA:10000596", "MEDDRA:10014903", "NCIT:C128802", "SNOMEDCT:37702000", "medgen:66355", "icd11.foundation:1813939482"], "information_content": 100.0}
{"id": "HP:0000712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mood Lability", "equivalent_identifiers": ["HP:0000712", "NCIT:C117252", "UMLS:C0085633", "MEDDRA:10001850", "MEDDRA:10014554", "MEDDRA:10014555", "MEDDRA:10022454", "MEDDRA:10023534", "MEDDRA:10027940", "MEDDRA:10027941", "MEDDRA:10027951", "MEDDRA:10027952", "SNOMEDCT:18963009"], "information_content": 100.0}
{"id": "HP:0005401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent candida infections", "equivalent_identifiers": ["HP:0005401", "UMLS:C1860128"], "information_content": 100.0}
{"id": "HP:0004396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor appetite", "equivalent_identifiers": ["HP:0004396", "UMLS:C0232462", "MEDDRA:10003020", "MEDDRA:10054792", "MEDDRA:10061428", "MEDDRA:10067342", "SNOMEDCT:64379006"], "information_content": 100.0}
{"id": "HP:0003282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating alkaline phosphatase activity", "equivalent_identifiers": ["HP:0003282", "UMLS:C1860130"], "information_content": 84.2}
{"id": "HP:0040171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum testosterone concentration", "equivalent_identifiers": ["HP:0040171", "UMLS:C1295654", "UMLS:C4073137", "MEDDRA:10043368", "MEDDRA:10043371", "SNOMEDCT:131078003"], "information_content": 95.4}
{"id": "HP:0031831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum zinc", "equivalent_identifiers": ["HP:0031831", "UMLS:C4703561"], "information_content": 100.0}
{"id": "HP:0000224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypogeusia", "equivalent_identifiers": ["HP:0000224", "NCIT:C116373", "UMLS:C0151934", "MEDDRA:10018795", "MEDDRA:10020989", "MEDDRA:10043130", "SNOMEDCT:697990000"], "information_content": 100.0}
{"id": "MONDO:0100250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX sex reversal 1", "equivalent_identifiers": ["MONDO:0100250", "DOID:0111761", "OMIM:400045", "UMLS:C2748895", "NCIT:C179867", "SNOMEDCT:1234907000", "medgen:411324"], "information_content": 100.0}
{"id": "HP:0012861", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ovotestis", "equivalent_identifiers": ["HP:0012861", "UMLS:C4551490", "SNOMEDCT:1017223006"], "information_content": 100.0}
{"id": "MONDO:0002768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hermaphroditism", "equivalent_identifiers": ["MONDO:0002768", "DOID:3763", "UMLS:C0019269", "UMLS:C0266361", "MEDDRA:10019906", "NCIT:C45909", "NCIT:C85207", "SNOMEDCT:237821001", "medgen:78595", "HP:0010459"], "information_content": 100.0}
{"id": "MONDO:0008336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pterygium colli, isolated", "equivalent_identifiers": ["MONDO:0008336", "OMIM:177990", "UMLS:C1867442", "MESH:C566741", "medgen:356780"], "information_content": 100.0}
{"id": "MONDO:0044726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome", "equivalent_identifiers": ["MONDO:0044726", "OMIM:617595", "orphanet:505242", "UMLS:C4539828", "medgen:1621949"], "information_content": 100.0}
{"id": "HP:0001531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Failure to thrive in infancy", "equivalent_identifiers": ["HP:0001531", "UMLS:C1867873"], "information_content": 100.0}
{"id": "MONDO:0001085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial nephritis", "equivalent_identifiers": ["MONDO:0001085", "DOID:1063", "UMLS:C0027707", "UMLS:C0041349", "MESH:D009395", "MEDDRA:10029134", "MEDDRA:10048302", "NCIT:C123036", "NCIT:C26834", "SNOMEDCT:264536006", "SNOMEDCT:28689008", "SNOMEDCT:428255004", "medgen:11952", "ICD10:N12", "HP:0001970"], "information_content": 92.8}
{"id": "HP:0012625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stage 3 chronic kidney disease", "equivalent_identifiers": ["HP:0012625", "NCIT:C80389", "UMLS:C2316787", "MEDDRA:10076410", "SNOMEDCT:433144002"], "information_content": 92.8}
{"id": "MONDO:0015271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camptocormia", "equivalent_identifiers": ["MONDO:0015271", "orphanet:1320", "UMLS:C0264162", "MESH:C537968", "MEDDRA:10069646", "MEDDRA:10082896", "SNOMEDCT:13534001", "medgen:120496", "HP:0100595"], "information_content": 100.0}
{"id": "MONDO:0008813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arachnoid cyst", "equivalent_identifiers": ["MONDO:0008813", "orphanet:2356", "UMLS:C0078981", "MESH:D016080", "MEDDRA:10049005", "NCIT:C3455", "SNOMEDCT:33595009", "SNOMEDCT:785284009", "medgen:86860", "HP:0100702"], "information_content": 89.4}
{"id": "HP:0032232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating creatine kinase MB isoform", "equivalent_identifiers": ["HP:0032232", "UMLS:C5139211"], "information_content": 100.0}
{"id": "MONDO:0008783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tangier disease", "equivalent_identifiers": ["MONDO:0008783", "DOID:1388", "OMIM:205400", "orphanet:31150", "UMLS:C0039292", "UMLS:C0751544", "UMLS:C1704429", "UMLS:C2931838", "MESH:D013631", "MEDDRA:10051875", "MEDDRA:10079119", "NCIT:C85182", "SNOMEDCT:15346004", "SNOMEDCT:723579009", "medgen:52644"], "information_content": 100.0}
{"id": "MONDO:0017773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoalphalipoproteinemia", "equivalent_identifiers": ["MONDO:0017773", "orphanet:31153", "EFO:0004612", "UMLS:C0151691", "UMLS:C0473527", "MESH:D052456", "MEDDRA:10011963", "MEDDRA:10019185", "MEDDRA:10019186", "MEDDRA:10019188", "MEDDRA:10020054", "MEDDRA:10020057", "MEDDRA:10020059", "MEDDRA:10020060", "MEDDRA:10024915", "MEDDRA:10065133", "MEDDRA:10065156", "NCIT:C105587", "NCIT:C84774", "SNOMEDCT:190785000", "SNOMEDCT:28036006", "medgen:57731", "icd11.foundation:1731667610", "HP:0003233"], "information_content": 86.3}
{"id": "HP:0031800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating apolipoprotein A-II concentration", "equivalent_identifiers": ["HP:0031800", "UMLS:C4703546"], "information_content": 100.0}
{"id": "HP:0007328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired pain sensation", "equivalent_identifiers": ["HP:0007328", "UMLS:C1837522"], "information_content": 95.4}
{"id": "HP:0031799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating apolipoprotein A-I concentration", "equivalent_identifiers": ["HP:0031799", "UMLS:C4703545"], "information_content": 100.0}
{"id": "MONDO:0001582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cicatricial ectropion", "equivalent_identifiers": ["MONDO:0001582", "DOID:12782", "UMLS:C0155196", "MEDDRA:10009173", "SNOMEDCT:28914006", "medgen:102327", "ICD9:374.14", "HP:0025608"], "information_content": 100.0}
{"id": "MONDO:0005311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atherosclerosis", "equivalent_identifiers": ["MONDO:0005311", "DOID:1936", "EFO:0003914", "UMLS:C0004153", "UMLS:C2711237", "UMLS:C4280569", "MESH:D050197", "MEDDRA:10003601", "MEDDRA:10051615", "MEDDRA:10065530", "NCIT:C35768", "NCIT:C35771", "SNOMEDCT:38716007", "SNOMEDCT:441574008", "medgen:13948", "ICD10:I70", "ICD9:440", "HP:0002621"], "information_content": 77.8}
{"id": "MONDO:0005010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary artery disorder", "equivalent_identifiers": ["MONDO:0005010", "DOID:3393", "EFO:0001645", "UMLS:C0010068", "UMLS:C0264694", "UMLS:C1533195", "UMLS:C1956346", "MESH:D003324", "MESH:D003327", "MEDDRA:10008936", "MEDDRA:10008937", "MEDDRA:10011078", "MEDDRA:10011079", "MEDDRA:10011080", "MEDDRA:10011081", "MEDDRA:10011082", "MEDDRA:10011099", "MEDDRA:10013098", "MEDDRA:10013210", "MEDDRA:10068617", "NCIT:C26732", "SNOMEDCT:413838009", "SNOMEDCT:413844008", "SNOMEDCT:414024009", "SNOMEDCT:53741008", "medgen:365486", "ICD10:I20-I25", "ICD10:I25", "ICD10:I25.10", "ICD9:410-414.99", "ICD9:414.0", "ICD9:414.9", "HP:0001677"], "information_content": 77.6}
{"id": "MONDO:0957919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lui-Jee-Baron syndrome", "equivalent_identifiers": ["MONDO:0957919", "OMIM:301114", "UMLS:C5882664", "medgen:1849943"], "information_content": 100.0}
{"id": "MONDO:0009366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "normal pressure hydrocephalus", "equivalent_identifiers": ["MONDO:0009366", "DOID:1572", "OMIM:236690", "EFO:1001065", "UMLS:C0020258", "UMLS:C5231392", "MESH:D006850", "MEDDRA:10029773", "MEDDRA:10029774", "SNOMEDCT:30753002", "medgen:42526", "ICD10:G91.2", "HP:0002343"], "information_content": 100.0}
{"id": "MONDO:0010659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FRAXE Syndrome", "equivalent_identifiers": ["MONDO:0010659", "DOID:0080984", "OMIM:309548", "orphanet:100973", "UMLS:C0751157", "UMLS:C4274328", "SNOMEDCT:716709002", "medgen:155512"], "information_content": 100.0}
{"id": "HP:0100023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent hand flapping", "equivalent_identifiers": ["HP:0100023", "UMLS:C4022387"], "information_content": 100.0}
{"id": "HP:0012172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stereotypical body rocking", "equivalent_identifiers": ["HP:0012172", "UMLS:C4023013"], "information_content": 100.0}
{"id": "HP:0011341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long upper lip", "equivalent_identifiers": ["HP:0011341", "UMLS:C3151495"], "information_content": 100.0}
{"id": "MONDO:0009561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mannosidosis", "equivalent_identifiers": ["MONDO:0009561", "DOID:3413", "OMIM:248500", "orphanet:61", "UMLS:C0024748", "UMLS:C1257960", "MESH:D008363", "MESH:D044904", "MEDDRA:10083855", "NCIT:C61275", "NCIT:C84548", "SNOMEDCT:124466001", "SNOMEDCT:65524005", "medgen:7467", "icd11.foundation:1944256516"], "information_content": 90.9}
{"id": "HP:0001922", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vacuolated lymphocytes", "equivalent_identifiers": ["HP:0001922", "UMLS:C1836855"], "information_content": 95.4}
{"id": "HP:0004570", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased vertebral height", "equivalent_identifiers": ["HP:0004570", "UMLS:C1864853"], "information_content": 92.8}
{"id": "HP:0007232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinocerebellar tract disease in lower limbs", "equivalent_identifiers": ["HP:0007232", "UMLS:C4024919"], "information_content": 100.0}
{"id": "HP:0005619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracolumbar kyphosis", "equivalent_identifiers": ["HP:0005619", "UMLS:C1855418", "MEDDRA:10086374"], "information_content": 95.4}
{"id": "HP:0002684", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened calvaria", "equivalent_identifiers": ["HP:0002684", "UMLS:C1858452", "UMLS:C4280560"], "information_content": 100.0}
{"id": "HP:0034712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating alpha-mannosidase activity", "equivalent_identifiers": ["HP:0034712", "UMLS:C5872911"], "information_content": 100.0}
{"id": "HP:4000190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced leukocyte alpha-mannosidase activity", "equivalent_identifiers": ["HP:4000190", "UMLS:C5872940"], "information_content": 100.0}
{"id": "HP:0001547", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal rib cage morphology", "equivalent_identifiers": ["HP:0001547", "UMLS:C4025763"], "information_content": 69.8}
{"id": "MONDO:0008475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylolisthesis", "equivalent_identifiers": ["MONDO:0008475", "DOID:6682", "OMIM:184200", "EFO:0007493", "UMLS:C0038016", "MESH:D013168", "MEDDRA:10049007", "MEDDRA:10063550", "NCIT:C35033", "SNOMEDCT:274152003", "medgen:52470", "icd11.foundation:1075039772", "ICD10:M43.1", "HP:0003302"], "information_content": 95.4}
{"id": "HP:0007371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corpus callosum atrophy", "equivalent_identifiers": ["HP:0007371", "UMLS:C0431370", "SNOMEDCT:253142006"], "information_content": 100.0}
{"id": "MONDO:0013969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 11", "equivalent_identifiers": ["MONDO:0013969", "DOID:0111481", "OMIM:614922", "orphanet:324535", "UMLS:C5190991", "SNOMEDCT:783558004", "medgen:1682397"], "information_content": 100.0}
{"id": "MONDO:0001909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular acidosis", "equivalent_identifiers": ["MONDO:0001909", "DOID:14219", "UMLS:C0001126", "UMLS:C1578594", "MESH:D000141", "MEDDRA:10000494", "MEDDRA:10038353", "MEDDRA:10038535", "NCIT:C28129", "SNOMEDCT:1776003", "medgen:90", "icd11.foundation:1272869150", "ICD10:N25.89", "HP:0001947"], "information_content": 86.3}
{"id": "HP:0001308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue fasciculations", "equivalent_identifiers": ["HP:0001308", "UMLS:C0239548", "SNOMEDCT:249878001"], "information_content": 100.0}
{"id": "MONDO:0013131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 2", "equivalent_identifiers": ["MONDO:0013131", "DOID:0110859", "OMIM:613095", "UMLS:C2751306", "NCIT:C123166", "SNOMEDCT:253879006", "medgen:442699"], "information_content": 100.0}
{"id": "HP:0005562", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple renal cysts", "equivalent_identifiers": ["HP:0005562", "UMLS:C0431718", "SNOMEDCT:253883006"], "information_content": 100.0}
{"id": "HP:0006254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating alpha-fetoprotein concentration", "equivalent_identifiers": ["HP:0006254", "NCIT:C136630", "NCIT:C35282", "UMLS:C0235971", "UMLS:C0476489", "MEDDRA:10001457", "MEDDRA:10001459", "MEDDRA:10001773", "MEDDRA:10001774", "MEDDRA:10001781", "MEDDRA:10001816", "MEDDRA:10001819", "MEDDRA:10001823", "MEDDRA:10001824", "MEDDRA:10001828", "MEDDRA:10001834", "MEDDRA:10001835", "MEDDRA:10060512", "MEDDRA:10074038", "MEDDRA:10074093"], "information_content": 75.0}
{"id": "HP:0001407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic cysts", "equivalent_identifiers": ["HP:0001407", "NCIT:C3960", "UMLS:C0267834", "MEDDRA:10019646", "MEDDRA:10019647", "SNOMEDCT:85057007"], "information_content": 100.0}
{"id": "HP:0003259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating creatinine concentration", "equivalent_identifiers": ["HP:0003259", "UMLS:C0700225", "MEDDRA:10011375", "MEDDRA:10021678", "MEDDRA:10037825", "MEDDRA:10040233", "SNOMEDCT:166717003"], "information_content": 100.0}
{"id": "MONDO:0013980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, punctate type ib", "equivalent_identifiers": ["MONDO:0013980", "OMIM:614936", "UMLS:C3554145", "medgen:767059"], "information_content": 100.0}
{"id": "MONDO:0017675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "punctate palmoplantar keratoderma", "equivalent_identifiers": ["MONDO:0017675", "DOID:0060361", "orphanet:307967", "UMLS:C1274216", "UMLS:C4024851", "SNOMEDCT:402773000", "medgen:870406", "icd11.foundation:1212361548", "HP:0007530"], "information_content": 87.2}
{"id": "MONDO:0010364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aldred syndrome", "equivalent_identifiers": ["MONDO:0010364", "OMIM:300578", "orphanet:85332", "UMLS:C0795873", "UMLS:C1845136", "MESH:C537046", "MESH:C564481", "SNOMEDCT:719808002", "medgen:336862"], "information_content": 100.0}
{"id": "HP:0031624", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate myopia", "equivalent_identifiers": ["HP:0031624", "UMLS:C4315867"], "information_content": 100.0}
{"id": "HP:0005328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progeroid facial appearance", "equivalent_identifiers": ["HP:0005328", "UMLS:C1857710"], "information_content": 100.0}
{"id": "MONDO:0009431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hypophosphatemic rickets with hypercalciuria", "equivalent_identifiers": ["MONDO:0009431", "DOID:0050947", "OMIM:241530", "orphanet:157215", "UMLS:C1853271", "MESH:C562793", "NCIT:C131450", "SNOMEDCT:237891005", "SNOMEDCT:726081005", "medgen:501133"], "information_content": 100.0}
{"id": "HP:0004363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating calcium concentration", "equivalent_identifiers": ["HP:0004363", "UMLS:C4022450"], "information_content": 78.0}
{"id": "MONDO:0024300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic rickets", "equivalent_identifiers": ["MONDO:0024300", "UMLS:C1704375", "MESH:D063730", "MEDDRA:10060873", "MEDDRA:10060883", "NCIT:C131449", "SNOMEDCT:66266003", "medgen:309957", "HP:0004912"], "information_content": 84.8}
{"id": "HP:0000893", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bulging of the costochondral junction", "equivalent_identifiers": ["HP:0000893", "UMLS:C1848538"], "information_content": 100.0}
{"id": "HP:0004492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely patent fontanelles and sutures", "equivalent_identifiers": ["HP:0004492", "UMLS:C1849300"], "information_content": 100.0}
{"id": "HP:0031414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High serum calcifediol", "equivalent_identifiers": ["HP:0031414", "UMLS:C4531137"], "information_content": 100.0}
{"id": "HP:0000920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlargement of the costochondral junction", "equivalent_identifiers": ["HP:0000920", "UMLS:C1857180"], "information_content": 100.0}
{"id": "HP:0004724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcium nephrolithiasis", "equivalent_identifiers": ["HP:0004724", "UMLS:C1855801"], "information_content": 92.8}
{"id": "MONDO:0021568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubule disorder", "equivalent_identifiers": ["MONDO:0021568", "EFO:0009566", "UMLS:C0151747", "UMLS:C0268709", "MEDDRA:10013277", "MEDDRA:10023440", "MEDDRA:10023442", "MEDDRA:10029156", "MEDDRA:10038537", "MEDDRA:10038539", "MEDDRA:10050335", "SNOMEDCT:7703001", "SNOMEDCT:95568003", "medgen:57484", "HP:0000124"], "information_content": 67.1}
{"id": "HP:0000886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed rib cage", "equivalent_identifiers": ["HP:0000886", "UMLS:C1838659"], "information_content": 100.0}
{"id": "MONDO:0014163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left ventricular noncompaction 10", "equivalent_identifiers": ["MONDO:0014163", "OMIM:615396", "UMLS:C3715165", "medgen:811617"], "information_content": 100.0}
{"id": "MONDO:0018901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left ventricular noncompaction", "equivalent_identifiers": ["MONDO:0018901", "DOID:0060480", "OMIM.PS:604169", "orphanet:54260", "UMLS:C1960469", "MEDDRA:10091247", "NCIT:C99544", "medgen:450531", "HP:0030682"], "information_content": 82.1}
{"id": "HP:0033755", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased left ventricular end-diastolic volume", "equivalent_identifiers": ["HP:0033755", "UMLS:C4748648"], "information_content": 100.0}
{"id": "MONDO:0010589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aarskog-Scott syndrome, X-linked", "equivalent_identifiers": ["MONDO:0010589", "DOID:6683", "OMIM:305400", "UMLS:C0175701", "UMLS:C1844569", "UMLS:C3275558", "MESH:C535331", "MESH:C564427", "MEDDRA:10067148", "MEDDRA:10083884", "NCIT:C129720", "SNOMEDCT:14921002", "medgen:61234"], "information_content": 100.0}
{"id": "HP:0032277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lozenge-shaped umbilicus", "equivalent_identifiers": ["HP:0032277", "UMLS:C5139238"], "information_content": 100.0}
{"id": "HP:0009466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial deviation of finger", "equivalent_identifiers": ["HP:0009466", "UMLS:C1836189"], "information_content": 88.2}
{"id": "HP:0001840", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toeing-in", "equivalent_identifiers": ["HP:0001840", "UMLS:C0231791", "UMLS:C4082169", "MEDDRA:10066313", "MEDDRA:10066803", "SNOMEDCT:77599005", "MESH:D000070592"], "information_content": 100.0}
{"id": "HP:0003502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild short stature", "equivalent_identifiers": ["HP:0003502", "UMLS:C3150077", "UMLS:C4020838"], "information_content": 100.0}
{"id": "HP:0012774", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased upper to lower segment ratio", "equivalent_identifiers": ["HP:0012774", "UMLS:C1844571"], "information_content": 100.0}
{"id": "HP:0003318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical spine hypermobility", "equivalent_identifiers": ["HP:0003318", "UMLS:C0574967", "SNOMEDCT:298186005"], "information_content": 100.0}
{"id": "HP:0000289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad philtrum", "equivalent_identifiers": ["HP:0000289", "UMLS:C1854111"], "information_content": 100.0}
{"id": "HP:0001544", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent umbilicus", "equivalent_identifiers": ["HP:0001544", "UMLS:C1837795"], "information_content": 100.0}
{"id": "HP:0002055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curved linear dimple below the lower lip", "equivalent_identifiers": ["HP:0002055", "UMLS:C1844572"], "information_content": 100.0}
{"id": "MONDO:0001415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrophy of testis", "equivalent_identifiers": ["MONDO:0001415", "DOID:11994", "UMLS:C0156312", "MEDDRA:10003711", "MEDDRA:10003720", "MEDDRA:10031059", "MEDDRA:10043298", "NCIT:C123259", "SNOMEDCT:17585008", "medgen:57626", "icd11.foundation:1735709719", "ICD10:N50.0", "ICD9:608.3", "HP:0000029"], "information_content": 95.4}
{"id": "HP:0009237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 5th finger", "equivalent_identifiers": ["HP:0009237", "UMLS:C1842878"], "information_content": 90.9}
{"id": "MONDO:0009486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive Kenny-Caffey syndrome", "equivalent_identifiers": ["MONDO:0009486", "DOID:0080722", "OMIM:244460", "orphanet:93324", "UMLS:C1855648", "MESH:C537021", "NCIT:C130992", "medgen:340923"], "information_content": 100.0}
{"id": "HP:0000890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long clavicles", "equivalent_identifiers": ["HP:0000890", "UMLS:C0426808", "SNOMEDCT:249687007"], "information_content": 100.0}
{"id": "HP:0001476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed closure of the anterior fontanelle", "equivalent_identifiers": ["HP:0001476", "UMLS:C3840083", "UMLS:C4072831", "SNOMEDCT:295091000119100"], "information_content": 95.4}
{"id": "HP:0004331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased skull ossification", "equivalent_identifiers": ["HP:0004331", "UMLS:C0432073", "UMLS:C4280533", "SNOMEDCT:253980008"], "information_content": 89.4}
{"id": "HP:0005450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calvarial osteosclerosis", "equivalent_identifiers": ["HP:0005450", "UMLS:C1855657"], "information_content": 90.9}
{"id": "HP:0008198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital hypoparathyroidism", "equivalent_identifiers": ["HP:0008198", "UMLS:C1455734", "MEDDRA:10051315"], "information_content": 100.0}
{"id": "HP:0003508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proportionate short stature", "equivalent_identifiers": ["HP:0003508", "UMLS:C0878660", "SNOMEDCT:772085001"], "information_content": 82.1}
{"id": "HP:0006645", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin clavicles", "equivalent_identifiers": ["HP:0006645", "UMLS:C0575535", "SNOMEDCT:298764003"], "information_content": 95.4}
{"id": "MONDO:0957210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurooculorenal syndrome", "equivalent_identifiers": ["MONDO:0957210", "OMIM:620305", "UMLS:C5830377", "medgen:1841013"], "information_content": 100.0}
{"id": "HP:0012624", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stage 2 chronic kidney disease", "equivalent_identifiers": ["HP:0012624", "NCIT:C80388", "UMLS:C2316786", "MEDDRA:10076409", "SNOMEDCT:431856006"], "information_content": 100.0}
{"id": "MONDO:0015986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral renal agenesis", "equivalent_identifiers": ["MONDO:0015986", "DOID:0080200", "orphanet:1848", "UMLS:C1609433", "MESH:C536482", "NCIT:C101219", "medgen:296299", "HP:0010958"], "information_content": 95.4}
{"id": "HP:0005343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the bladder", "equivalent_identifiers": ["HP:0005343", "UMLS:C1855335"], "information_content": 95.4}
{"id": "HP:0008163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating cortisol level", "equivalent_identifiers": ["HP:0008163", "NCIT:C113211", "UMLS:C1833054", "UMLS:C1836623", "UMLS:C1846225", "MEDDRA:10075908", "MEDDRA:10084815"], "information_content": 100.0}
{"id": "HP:0001338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial agenesis of the corpus callosum", "equivalent_identifiers": ["HP:0001338", "UMLS:C0431368", "UMLS:C1857278", "SNOMEDCT:253140003", "MESH:C536111"], "information_content": 100.0}
{"id": "MONDO:0019828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary stalk interruption syndrome", "equivalent_identifiers": ["MONDO:0019828", "orphanet:95496", "UMLS:C3279571", "UMLS:C4053775", "MEDDRA:10088621", "NCIT:C121150", "NCIT:C121151", "SNOMEDCT:715727009", "medgen:883774", "icd11.foundation:1474283222", "HP:0011755"], "information_content": 95.4}
{"id": "HP:0011679", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tetralogy of Fallot with pulmonary stenosis", "equivalent_identifiers": ["HP:0011679", "UMLS:C0344881", "SNOMEDCT:253512000"], "information_content": 100.0}
{"id": "HP:0010034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 1st metacarpal", "equivalent_identifiers": ["HP:0010034", "UMLS:C1849311"], "information_content": 100.0}
{"id": "HP:0001988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent hypoglycemia", "equivalent_identifiers": ["HP:0001988", "UMLS:C1846288"], "information_content": 95.4}
{"id": "HP:0001089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris atrophy", "equivalent_identifiers": ["HP:0001089", "UMLS:C0423319", "MEDDRA:10022948", "MEDDRA:10053701", "SNOMEDCT:95709007"], "information_content": 95.4}
{"id": "HP:0025700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anhydramnios", "equivalent_identifiers": ["HP:0025700", "UMLS:C0730379", "MEDDRA:10063755", "SNOMEDCT:313017000"], "information_content": 100.0}
{"id": "HP:0002920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating ACTH concentration", "equivalent_identifiers": ["HP:0002920", "UMLS:C4025669", "UMLS:C5826343"], "information_content": 95.4}
{"id": "MONDO:0008666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "volvulus of midgut", "equivalent_identifiers": ["MONDO:0008666", "OMIM:193250", "UMLS:C0221210", "UMLS:C3496048", "MESH:C562456", "MEDDRA:10064024", "NCIT:C98961", "SNOMEDCT:253789002", "SNOMEDCT:29980002", "SNOMEDCT:458422009", "SNOMEDCT:48641006", "medgen:113153", "HP:0002566"], "information_content": 90.9}
{"id": "MONDO:0010568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi syndrome", "equivalent_identifiers": ["MONDO:0010568", "DOID:8461", "OMIM:304050", "orphanet:50", "UMLS:C0175713", "MESH:D058540", "MEDDRA:10054935", "NCIT:C35256", "SNOMEDCT:80651009", "medgen:61236", "icd11.foundation:2057245946"], "information_content": 100.0}
{"id": "MONDO:0004993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carcinoma", "equivalent_identifiers": ["MONDO:0004993", "DOID:305", "EFO:0000313", "UMLS:C0007097", "UMLS:C0553707", "MESH:D002277", "MEDDRA:10007284", "MEDDRA:10007423", "NCIT:C2916", "SNOMEDCT:1187225007", "SNOMEDCT:1187425009", "SNOMEDCT:68453008", "SNOMEDCT:71298006", "SNOMEDCT:722688002", "medgen:2867", "HP:0030731"], "information_content": 42.8}
{"id": "MONDO:0004026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin tag", "equivalent_identifiers": ["MONDO:0004026", "DOID:6873", "UMLS:C0037293", "UMLS:C1384410", "UMLS:C5886749", "MEDDRA:10000591", "MEDDRA:10040928", "MEDDRA:10060716", "NCIT:C3374", "NCIT:C8311", "SNOMEDCT:201091002", "SNOMEDCT:31069005", "SNOMEDCT:80801001", "medgen:11452", "HP:0010609"], "information_content": 95.4}
{"id": "HP:0007082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilated third ventricle", "equivalent_identifiers": ["HP:0007082", "UMLS:C4024941"], "information_content": 95.4}
{"id": "MONDO:0005106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoma", "equivalent_identifiers": ["MONDO:0005106", "DOID:3315", "EFO:0000759", "UMLS:C0023798", "MESH:D008067", "MEDDRA:10024612", "MEDDRA:10024615", "MEDDRA:10024623", "NCIT:C3192", "SNOMEDCT:134328007", "SNOMEDCT:93163002", "medgen:44173", "icd11.foundation:1090000716", "ICD10:D17", "ICD10:D17.9", "ICD9:214", "HP:0012032"], "information_content": 70.6}
{"id": "MONDO:0008449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spina bifida", "equivalent_identifiers": ["MONDO:0008449", "DOID:0080016", "EFO:0003105", "UMLS:C0080178", "MESH:D016135", "MEDDRA:10041524", "NCIT:C101214", "SNOMEDCT:67531005", "medgen:38283", "icd11.foundation:2036217905", "ICD9:741", "HP:0002414"], "information_content": 74.1}
{"id": "HP:0010759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominence of the premaxilla", "equivalent_identifiers": ["HP:0010759", "UMLS:C2749369"], "information_content": 100.0}
{"id": "HP:0000892", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid ribs", "equivalent_identifiers": ["HP:0000892", "UMLS:C4721788"], "information_content": 100.0}
{"id": "MONDO:0022735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroid plexus cyst", "equivalent_identifiers": ["MONDO:0022735", "UMLS:C0338597", "NCIT:C4351", "SNOMEDCT:230790004", "medgen:87376", "HP:0002190"], "information_content": 100.0}
{"id": "MONDO:0000115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chiari malformation", "equivalent_identifiers": ["MONDO:0000115", "UMLS:C0003803", "MESH:D001139", "MEDDRA:10003101", "MEDDRA:10008503", "NCIT:C84570", "SNOMEDCT:253184003", "medgen:2065", "HP:0002308"], "information_content": 89.4}
{"id": "HP:0005338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse lateral eyebrow", "equivalent_identifiers": ["HP:0005338", "UMLS:C1857206"], "information_content": 100.0}
{"id": "MONDO:0018666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatoblastoma", "equivalent_identifiers": ["MONDO:0018666", "DOID:687", "orphanet:449", "EFO:1000292", "UMLS:C0206624", "MESH:D018197", "MEDDRA:10019822", "MEDDRA:10019825", "MEDDRA:10062001", "NCIT:C3728", "SNOMEDCT:109843000", "SNOMEDCT:45024009", "medgen:61644", "icd11.foundation:1241693063", "icd11.foundation:1556608523", "ICD10:C22.2", "HP:0002884"], "information_content": 74.3}
{"id": "HP:0007858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal lacunae", "equivalent_identifiers": ["HP:0007858", "UMLS:C1844751", "UMLS:C4072866"], "information_content": 95.4}
{"id": "MONDO:0000088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "precocious puberty", "equivalent_identifiers": ["MONDO:0000088", "orphanet:95708", "UMLS:C0034013", "MESH:D011629", "MEDDRA:10000359", "MEDDRA:10000360", "MEDDRA:10014054", "MEDDRA:10026944", "MEDDRA:10036520", "MEDDRA:10037282", "MEDDRA:10044701", "MEDDRA:10058084", "NCIT:C79704", "SNOMEDCT:123527003", "SNOMEDCT:400179000", "medgen:18752", "HP:0000826"], "information_content": 80.6}
{"id": "MONDO:0002601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "teratoma", "equivalent_identifiers": ["MONDO:0002601", "DOID:3307", "UMLS:C0039538", "MESH:D013724", "MEDDRA:10043276", "MEDDRA:10043277", "NCIT:C3403", "SNOMEDCT:1187393008", "SNOMEDCT:36591000119102", "SNOMEDCT:55818009", "medgen:21097", "HP:0009792"], "information_content": 68.0}
{"id": "HP:0200059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metastatic angiosarcoma", "equivalent_identifiers": ["HP:0200059", "NCIT:C8708", "UMLS:C0854892", "MEDDRA:10002477"], "information_content": 92.8}
{"id": "MONDO:0007354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma of optic nerve", "equivalent_identifiers": ["MONDO:0007354", "DOID:11975", "OMIM:120430", "orphanet:98947", "UMLS:C0155299", "MESH:C535970", "SNOMEDCT:17541006", "SNOMEDCT:44295002", "medgen:57832", "icd11.foundation:592278969", "ICD10:Q14.2", "ICD9:377.23", "HP:0000588"], "information_content": 95.4}
{"id": "MONDO:0008919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "systemic primary carnitine deficiency disease", "equivalent_identifiers": ["MONDO:0008919", "DOID:14365", "OMIM:212140", "orphanet:158", "UMLS:C0342788", "MESH:C536778", "MEDDRA:10088267", "NCIT:C98864", "SNOMEDCT:21764004", "medgen:90999", "ICD10:E71.41", "ICD9:277.81"], "information_content": 100.0}
{"id": "HP:0003234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating carnitine concentration", "equivalent_identifiers": ["HP:0003234", "UMLS:C1142132", "UMLS:C5848230", "MEDDRA:10058892", "SNOMEDCT:421784001"], "information_content": 90.9}
{"id": "HP:0030362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle carnitine level", "equivalent_identifiers": ["HP:0030362", "UMLS:C4072902"], "information_content": 100.0}
{"id": "HP:0001946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ketosis", "equivalent_identifiers": ["HP:0001946", "UMLS:C0022638", "UMLS:C0235430", "MEDDRA:10023391", "MEDDRA:10057592", "MEDDRA:10057599", "SNOMEDCT:213281004", "SNOMEDCT:2538008"], "information_content": 77.1}
{"id": "HP:0045061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased carnitine level in liver", "equivalent_identifiers": ["HP:0045061", "UMLS:C4073182"], "information_content": 100.0}
{"id": "HP:0031956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating aspartate aminotransferase concentration", "equivalent_identifiers": ["HP:0031956", "NCIT:C26947", "UMLS:C0151904", "MEDDRA:10003480", "MEDDRA:10003481", "MEDDRA:10003544", "MEDDRA:10018452", "MEDDRA:10018624", "MEDDRA:10040271", "MEDDRA:10040272", "MEDDRA:10040524", "MEDDRA:10044344"], "information_content": 100.0}
{"id": "HP:0005959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired gluconeogenesis", "equivalent_identifiers": ["HP:0005959", "UMLS:C3279336"], "information_content": 95.4}
{"id": "MONDO:0010662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraplegia-intellectual disability-hyperkeratosis syndrome", "equivalent_identifiers": ["MONDO:0010662", "OMIM:309560", "orphanet:2824", "UMLS:C2745996", "MESH:C537058", "SNOMEDCT:722209002", "medgen:411554"], "information_content": 100.0}
{"id": "MONDO:0010200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilson disease", "equivalent_identifiers": ["MONDO:0010200", "DOID:893", "OMIM:277900", "orphanet:905", "UMLS:C0019202", "MESH:D006527", "MEDDRA:10019819", "MEDDRA:10047988", "NCIT:C84756", "SNOMEDCT:190823004", "SNOMEDCT:88518009", "medgen:42426", "icd11.foundation:468161208", "ICD10:E83.01"], "information_content": 100.0}
{"id": "HP:0003270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal distention", "equivalent_identifiers": ["HP:0003270", "UMLS:C0000731", "MEDDRA:10000060", "MEDDRA:10013480", "MEDDRA:10042678", "MEDDRA:10042679", "MEDDRA:10042714", "SNOMEDCT:41931001", "SNOMEDCT:60728008"], "information_content": 90.9}
{"id": "MONDO:0019542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute liver failure", "equivalent_identifiers": ["MONDO:0019542", "orphanet:90062", "UMLS:C0162557", "MESH:D017114", "MEDDRA:10000804", "MEDDRA:10049844", "NCIT:C84396", "SNOMEDCT:197270009", "medgen:58125", "HP:0006554"], "information_content": 92.8}
{"id": "HP:0000751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Personality changes", "equivalent_identifiers": ["HP:0000751", "NCIT:C78548", "UMLS:C0240735", "MEDDRA:10034719", "SNOMEDCT:102943000", "SNOMEDCT:192073007"], "information_content": 100.0}
{"id": "HP:0007327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mixed demyelinating and axonal polyneuropathy", "equivalent_identifiers": ["HP:0007327", "UMLS:C4024907"], "information_content": 100.0}
{"id": "HP:0010838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High nonceruloplasmin-bound serum copper", "equivalent_identifiers": ["HP:0010838", "UMLS:C1848459"], "information_content": 100.0}
{"id": "HP:0010837", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating ceruloplasmin concentration", "equivalent_identifiers": ["HP:0010837", "UMLS:C0240997"], "information_content": 100.0}
{"id": "HP:6000642", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sunflower cataract", "equivalent_identifiers": ["HP:6000642", "UMLS:C0865529"], "information_content": 100.0}
{"id": "HP:0010839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary copper concentration", "equivalent_identifiers": ["HP:0010839", "UMLS:C4023688"], "information_content": 100.0}
{"id": "HP:0032254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating copper concentration", "equivalent_identifiers": ["HP:0032254", "UMLS:C4522127", "SNOMEDCT:737560000"], "information_content": 100.0}
{"id": "HP:0002548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinsonism with favorable response to dopaminergic medication", "equivalent_identifiers": ["HP:0002548", "UMLS:C1846868", "UMLS:C5442007"], "information_content": 100.0}
{"id": "HP:0200032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kayser-Fleischer ring", "equivalent_identifiers": ["HP:0200032", "UMLS:C0152457", "MEDDRA:10023321", "SNOMEDCT:77103006"], "information_content": 100.0}
{"id": "HP:0010741", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pedal edema", "equivalent_identifiers": ["HP:0010741", "UMLS:C0235437", "UMLS:C0235886", "UMLS:C0239340", "MEDDRA:10012353", "MEDDRA:10014219", "MEDDRA:10014230", "MEDDRA:10014232", "MEDDRA:10014239", "MEDDRA:10018712", "MEDDRA:10018713", "MEDDRA:10024127", "MEDDRA:10024129", "MEDDRA:10030100", "MEDDRA:10030105", "MEDDRA:10030109", "MEDDRA:10030117", "MEDDRA:10030118", "MEDDRA:10031126", "MEDDRA:10031128", "MEDDRA:10036432", "MEDDRA:10036434", "MEDDRA:10054498", "MEDDRA:10055400", "SNOMEDCT:102572006", "SNOMEDCT:248499004", "SNOMEDCT:58692005"], "information_content": 92.8}
{"id": "MONDO:0001221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal varices", "equivalent_identifiers": ["MONDO:0001221", "DOID:112", "EFO:0009545", "UMLS:C0014849", "UMLS:C0014867", "UMLS:C0155791", "UMLS:C0155792", "MESH:D004932", "MEDDRA:10015452", "MEDDRA:10030209", "MEDDRA:10030212", "MEDDRA:10046984", "MEDDRA:10056091", "NCIT:C53506", "SNOMEDCT:28670008", "medgen:5027", "ICD10:I85.01", "ICD9:456.0", "ICD9:456.2", "ICD9:456.20", "HP:0002040"], "information_content": 92.8}
{"id": "MONDO:0005178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoarthritis", "equivalent_identifiers": ["MONDO:0005178", "DOID:8398", "UMLS:C0029408", "UMLS:C0157946", "MESH:D010003", "MEDDRA:10031161", "MEDDRA:10031167", "MEDDRA:10031174", "MEDDRA:10031186", "MEDDRA:10031216", "MEDDRA:10049491", "NCIT:C3293", "SNOMEDCT:225655006", "SNOMEDCT:396275006", "medgen:45244", "icd11.foundation:558562409", "ICD9:715.3", "HP:0002758"], "information_content": 83.1}
{"id": "HP:0200122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical or prolonged hepatitis", "equivalent_identifiers": ["HP:0200122", "UMLS:C1848456"], "information_content": 100.0}
{"id": "HP:0002375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypokinesia", "equivalent_identifiers": ["HP:0002375", "NCIT:C116576", "UMLS:C0086439", "MEDDRA:10000645", "MEDDRA:10011953", "MEDDRA:10020930", "MEDDRA:10020934", "MEDDRA:10021021", "MEDDRA:10027992", "MEDDRA:10045494", "SNOMEDCT:255385008", "SNOMEDCT:43994002", "MESH:D018476"], "information_content": 92.8}
{"id": "HP:0033834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malaise", "equivalent_identifiers": ["HP:0033834", "EFO:0009641", "NCIT:C3832", "UMLS:C0231218", "MEDDRA:10013086", "MEDDRA:10016340", "MEDDRA:10016342", "MEDDRA:10016370", "MEDDRA:10016375", "MEDDRA:10016377", "MEDDRA:10016380", "MEDDRA:10018066", "MEDDRA:10018135", "MEDDRA:10025482", "SNOMEDCT:213257006", "SNOMEDCT:367391008"], "information_content": 65.3}
{"id": "MONDO:0001220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism", "equivalent_identifiers": ["MONDO:0001220", "DOID:11199", "EFO:0009451", "UMLS:C0020626", "MESH:D007011", "MEDDRA:10021041", "NCIT:C78350", "SNOMEDCT:36976004", "medgen:6985", "icd11.foundation:1708733050", "ICD10:E20", "ICD9:252.1", "HP:0000829"], "information_content": 80.6}
{"id": "HP:0034254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Face of the giant panda sign", "equivalent_identifiers": ["HP:0034254", "UMLS:C5676832"], "information_content": 100.0}
{"id": "HP:0003537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypouricemia", "equivalent_identifiers": ["HP:0003537", "UMLS:C0221333", "MEDDRA:10021131", "MEDDRA:10054432", "SNOMEDCT:4519003"], "information_content": 95.4}
{"id": "MONDO:0030087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus, permanent neonatal 2", "equivalent_identifiers": ["MONDO:0030087", "OMIM:618856", "UMLS:C5394296", "medgen:1713823"], "information_content": 100.0}
{"id": "HP:0001993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ketoacidosis", "equivalent_identifiers": ["HP:0001993", "UMLS:C0220982", "MEDDRA:10023379", "SNOMEDCT:56051008", "MESH:D007662"], "information_content": 90.9}
{"id": "HP:0030795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced C-peptide level", "equivalent_identifiers": ["HP:0030795", "UMLS:C4280764"], "information_content": 100.0}
{"id": "HP:0005487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent metopic ridge", "equivalent_identifiers": ["HP:0005487", "UMLS:C1857949"], "information_content": 100.0}
{"id": "HP:0007334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral tonic-clonic seizure with focal onset", "equivalent_identifiers": ["HP:0007334", "UMLS:C0877017", "MEDDRA:10048674", "MEDDRA:10056209", "MEDDRA:10083382", "SNOMEDCT:246544003"], "information_content": 95.4}
{"id": "HP:0001488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral ptosis", "equivalent_identifiers": ["HP:0001488", "UMLS:C1865916"], "information_content": 95.4}
{"id": "MONDO:0957216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 21", "equivalent_identifiers": ["MONDO:0957216", "OMIM:620311", "UMLS:C5830399", "medgen:1841035"], "information_content": 100.0}
{"id": "HP:0000869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Secondary amenorrhea", "equivalent_identifiers": ["HP:0000869", "NCIT:C113340", "UMLS:C0232940", "MEDDRA:10001932", "MEDDRA:10039809", "MEDDRA:10062837", "SNOMEDCT:86030004"], "information_content": 100.0}
{"id": "MONDO:0018561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "precocious puberty in female", "equivalent_identifiers": ["MONDO:0018561", "orphanet:435561", "UMLS:C0271616", "SNOMEDCT:19911007", "medgen:543449", "HP:0010465"], "information_content": 95.4}
{"id": "HP:0010464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Streak ovary", "equivalent_identifiers": ["HP:0010464", "UMLS:C0266371", "MEDDRA:10042173", "SNOMEDCT:70550008"], "information_content": 100.0}
{"id": "HP:0008214", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum estradiol", "equivalent_identifiers": ["HP:0008214", "UMLS:C0241011", "SNOMEDCT:166449002"], "information_content": 100.0}
{"id": "MONDO:0032860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 72", "equivalent_identifiers": ["MONDO:0032860", "DOID:0080765", "OMIM:618665", "EFO:0010654", "UMLS:C5231452", "medgen:1684805"], "information_content": 100.0}
{"id": "HP:0012809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow nasal base", "equivalent_identifiers": ["HP:0012809", "UMLS:C4022717"], "information_content": 100.0}
{"id": "HP:0012811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide nasal ridge", "equivalent_identifiers": ["HP:0012811", "UMLS:C4020718"], "information_content": 100.0}
{"id": "HP:0012810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide nasal base", "equivalent_identifiers": ["HP:0012810", "UMLS:C1849667"], "information_content": 100.0}
{"id": "MONDO:0011904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures, benign familial infantile, 3", "equivalent_identifiers": ["MONDO:0011904", "DOID:0081116", "OMIM:607745", "orphanet:140927", "UMLS:C1843140", "medgen:375105"], "information_content": 100.0}
{"id": "HP:0002372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Normal interictal EEG", "equivalent_identifiers": ["HP:0002372", "UMLS:C1843146"], "information_content": 100.0}
{"id": "HP:0012759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurodevelopmental abnormality", "equivalent_identifiers": ["HP:0012759", "UMLS:C4022737"], "information_content": 70.5}
{"id": "MONDO:0014816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split-foot malformation-mesoaxial polydactyly syndrome", "equivalent_identifiers": ["MONDO:0014816", "OMIM:616890", "orphanet:488232", "UMLS:C5567487", "SNOMEDCT:1172635005", "medgen:1798910"], "information_content": 100.0}
{"id": "MONDO:0017450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split foot", "equivalent_identifiers": ["MONDO:0017450", "UMLS:C0432028", "MEDDRA:10075491", "SNOMEDCT:205358006", "medgen:140919", "icd11.foundation:1406855248", "HP:0001839"], "information_content": 92.8}
{"id": "MONDO:0017449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split hand", "equivalent_identifiers": ["MONDO:0017449", "UMLS:C0221373", "UMLS:C2699510", "UMLS:C5550991", "MEDDRA:10009258", "MEDDRA:10010418", "MEDDRA:10084413", "MEDDRA:10084414", "MEDDRA:10084418", "SNOMEDCT:299034005", "medgen:397570", "icd11.foundation:924222970", "HP:0001171"], "information_content": 92.8}
{"id": "HP:0006159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesoaxial hand polydactyly", "equivalent_identifiers": ["HP:0006159", "UMLS:C4021606"], "information_content": 75.7}
{"id": "MONDO:0024569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 8", "equivalent_identifiers": ["MONDO:0024569", "DOID:0111439", "OMIM:616648", "UMLS:C4085249", "medgen:898923"], "information_content": 100.0}
{"id": "HP:0030455", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of pattern visual evoked potentials", "equivalent_identifiers": ["HP:0030455", "UMLS:C4072946"], "information_content": 86.3}
{"id": "HP:0006958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal auditory evoked potentials", "equivalent_identifiers": ["HP:0006958", "UMLS:C0522216", "MEDDRA:10003782", "MEDDRA:10015555", "SNOMEDCT:102971006"], "information_content": 92.8}
{"id": "HP:0007104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged somatosensory evoked potentials", "equivalent_identifiers": ["HP:0007104", "UMLS:C4024939"], "information_content": 100.0}
{"id": "MONDO:0009267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease type III", "equivalent_identifiers": ["MONDO:0009267", "DOID:0110959", "OMIM:231000", "orphanet:77261", "UMLS:C0268251", "UMLS:C1856491", "UMLS:C1856492", "UMLS:C1856493", "MESH:C565554", "MESH:C565555", "MESH:C565556", "MEDDRA:10075699", "SNOMEDCT:5963005", "medgen:78653"], "information_content": 100.0}
{"id": "MONDO:0004730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "speech disorder", "equivalent_identifiers": ["MONDO:0004730", "DOID:92", "UMLS:C0037822", "UMLS:C3687424", "MESH:D013064", "MEDDRA:10013269", "MEDDRA:10041466", "NCIT:C5041", "SNOMEDCT:47004009", "medgen:11531", "HP:0002167"], "information_content": 74.1}
{"id": "HP:0007817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal supranuclear gaze palsy", "equivalent_identifiers": ["HP:0007817", "UMLS:C4024794"], "information_content": 100.0}
{"id": "HP:0004934", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vascular calcification", "equivalent_identifiers": ["HP:0004934", "NCIT:C114846", "UMLS:C0342649", "MEDDRA:10051753", "SNOMEDCT:237897009", "MESH:D061205"], "information_content": 77.1}
{"id": "HP:0003656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased beta-glucocerebrosidase level", "equivalent_identifiers": ["HP:0003656", "UMLS:C1842710", "UMLS:C5139035"], "information_content": 100.0}
{"id": "MONDO:0013394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porencephaly-microcephaly-bilateral congenital cataract syndrome", "equivalent_identifiers": ["MONDO:0013394", "OMIM:613730", "orphanet:306547", "UMLS:C3151000", "medgen:462350"], "information_content": 100.0}
{"id": "HP:0000800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystic renal dysplasia", "equivalent_identifiers": ["HP:0000800", "UMLS:C1834931", "UMLS:C5442004", "SNOMEDCT:1155732005"], "information_content": 100.0}
{"id": "MONDO:0010798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome", "equivalent_identifiers": ["MONDO:0010798", "OMIM:560000", "UMLS:C3151959", "UMLS:C3501777", "MESH:C564014", "medgen:463309"], "information_content": 100.0}
{"id": "HP:0007511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mottled pigmentation of photoexposed areas", "equivalent_identifiers": ["HP:0007511", "UMLS:C3151964"], "information_content": 100.0}
{"id": "MONDO:0013875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "equivalent_identifiers": ["MONDO:0013875", "DOID:0110001", "OMIM:614739", "orphanet:352328", "UMLS:C4040739", "SNOMEDCT:711409002", "medgen:873604"], "information_content": 100.0}
{"id": "MONDO:0001531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blood coagulation disease", "equivalent_identifiers": ["MONDO:0001531", "DOID:1247", "EFO:0009314", "UMLS:C0005779", "MESH:D001778", "MEDDRA:10009731", "MEDDRA:10009734", "MEDDRA:10009802", "MEDDRA:10012116", "MEDDRA:10013206", "MEDDRA:10053567", "MEDDRA:10064732", "NCIT:C2902", "SNOMEDCT:362970003", "SNOMEDCT:64779008", "medgen:604", "ICD10:D68.9", "ICD9:286", "HP:0003256"], "information_content": 66.4}
{"id": "HP:0012444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brain atrophy", "equivalent_identifiers": ["HP:0012444", "UMLS:C4551584"], "information_content": 54.9}
{"id": "HP:0002977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the central nervous system", "equivalent_identifiers": ["HP:0002977", "UMLS:C4025665"], "information_content": 54.4}
{"id": "MONDO:0009378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperalaninemia", "equivalent_identifiers": ["MONDO:0009378", "OMIM:237400", "orphanet:309147", "UMLS:C0268630", "UMLS:C1839424", "UMLS:C1849489", "MESH:C562684", "SNOMEDCT:2359002", "medgen:75702", "HP:0003348"], "information_content": 95.4}
{"id": "MONDO:0700217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal sepsis", "equivalent_identifiers": ["MONDO:0700217", "UMLS:C0456103", "MESH:D000071074", "MEDDRA:10040049", "MEDDRA:10053600", "MEDDRA:10077083", "MEDDRA:10088814", "MEDDRA:10088815", "NCIT:C116802", "SNOMEDCT:206376005", "medgen:96816", "HP:0040187"], "information_content": 92.8}
{"id": "MONDO:0012872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia, familial, due to decreased release of tissue plasminogen activator", "equivalent_identifiers": ["MONDO:0012872", "DOID:0111906", "OMIM:612348", "UMLS:C2676721", "UMLS:C2676722", "MESH:C567341", "medgen:393574"], "information_content": 100.0}
{"id": "HP:0004850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent deep vein thrombosis", "equivalent_identifiers": ["HP:0004850", "UMLS:C1735901", "MEDDRA:10066529", "SNOMEDCT:710167004"], "information_content": 100.0}
{"id": "MONDO:0010973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 5", "equivalent_identifiers": ["MONDO:0010973", "DOID:0110575", "OMIM:600994", "UMLS:C1832932", "MESH:C563410", "medgen:331398"], "information_content": 100.0}
{"id": "MONDO:0009336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemosiderosis, pulmonary, with deficiency of gamma-a globulin", "equivalent_identifiers": ["MONDO:0009336", "OMIM:235500"], "information_content": 100.0}
{"id": "MONDO:0020846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 64", "equivalent_identifiers": ["MONDO:0020846", "DOID:0081225", "OMIM:618103", "UMLS:C4748192", "medgen:1648279"], "information_content": 100.0}
{"id": "HP:0001350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slurred speech", "equivalent_identifiers": ["HP:0001350", "UMLS:C0234518", "MEDDRA:10041053", "MEDDRA:10041472", "SNOMEDCT:289195008"], "information_content": 95.4}
{"id": "HP:0012760", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced social responsiveness", "equivalent_identifiers": ["HP:0012760", "UMLS:C4022736", "UMLS:C5936713"], "information_content": 71.6}
{"id": "MONDO:0030941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis et progressiva 7", "equivalent_identifiers": ["MONDO:0030941", "OMIM:619209", "UMLS:C5543106", "medgen:1780408"], "information_content": 100.0}
{"id": "MONDO:0006527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anhidrosis", "equivalent_identifiers": ["MONDO:0006527", "DOID:11156", "EFO:1000670", "UMLS:C0003028", "MEDDRA:10002512", "MEDDRA:10002513", "NCIT:C34385", "SNOMEDCT:14662005", "SNOMEDCT:39659002", "medgen:1550", "ICD9:705.0", "HP:0000970"], "information_content": 90.9}
{"id": "HP:0001810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystrophic toenail", "equivalent_identifiers": ["HP:0001810", "UMLS:C1833225"], "information_content": 100.0}
{"id": "MONDO:0007129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, 1", "equivalent_identifiers": ["MONDO:0007129", "OMIM:106600", "UMLS:C3489529", "medgen:483482"], "information_content": 100.0}
{"id": "MONDO:0020857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 7", "equivalent_identifiers": ["MONDO:0020857", "DOID:0080499", "OMIM:618117", "UMLS:C4748263", "medgen:1648458"], "information_content": 100.0}
{"id": "MONDO:0014185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 3q13.31 deletion syndrome", "equivalent_identifiers": ["MONDO:0014185", "DOID:0060418", "OMIM:615433", "orphanet:1621", "UMLS:C2931338", "UMLS:C3809490", "MESH:C536808", "SNOMEDCT:726705007", "medgen:815820"], "information_content": 100.0}
{"id": "MONDO:0019757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alobar holoprosencephaly", "equivalent_identifiers": ["MONDO:0019757", "orphanet:93925", "UMLS:C0431363", "SNOMEDCT:253137003", "medgen:140909", "icd11.foundation:381193163", "HP:0006988"], "information_content": 92.8}
{"id": "MONDO:0014143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 8", "equivalent_identifiers": ["MONDO:0014143", "DOID:0060586", "OMIM:615355", "UMLS:C3809233", "NCIT:C176936", "medgen:815563"], "information_content": 100.0}
{"id": "HP:0000974", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperextensible skin", "equivalent_identifiers": ["HP:0000974", "UMLS:C0241074"], "information_content": 90.9}
{"id": "HP:0000766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sternum morphology", "equivalent_identifiers": ["HP:0000766", "UMLS:C1860493", "UMLS:C4230697"], "information_content": 73.4}
{"id": "MONDO:0008513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synpolydactyly type 1", "equivalent_identifiers": ["MONDO:0008513", "OMIM:186000", "orphanet:295195", "UMLS:C5574994", "NCIT:C75005", "medgen:1809573", "icd11.foundation:1701170393"], "information_content": 100.0}
{"id": "HP:0008083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2nd-5th toe middle phalangeal hypoplasia", "equivalent_identifiers": ["HP:0008083", "UMLS:C1861376"], "information_content": 100.0}
{"id": "HP:0009185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the proximal interphalangeal joint of the 5th finger", "equivalent_identifiers": ["HP:0009185", "UMLS:C3554612"], "information_content": 100.0}
{"id": "HP:0006042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Y-shaped metacarpals", "equivalent_identifiers": ["HP:0006042", "UMLS:C1861373"], "information_content": 95.4}
{"id": "HP:0006101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger syndactyly", "equivalent_identifiers": ["HP:0006101", "UMLS:C0221352", "MEDDRA:10016697", "MEDDRA:10042780", "MEDDRA:10047874", "SNOMEDCT:249769001", "SNOMEDCT:268251006", "SNOMEDCT:34048007"], "information_content": 79.3}
{"id": "HP:0001830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postaxial foot polydactyly", "equivalent_identifiers": ["HP:0001830", "UMLS:C2112129", "UMLS:C4020865", "MEDDRA:10089195"], "information_content": 95.4}
{"id": "MONDO:0011139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preaxial hallucal polydactyly", "equivalent_identifiers": ["MONDO:0011139", "OMIM:601759", "UMLS:C1866339", "UMLS:C2112942", "MESH:C566632", "medgen:356507", "HP:0001841"], "information_content": 95.4}
{"id": "HP:0001501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "6 metacarpals", "equivalent_identifiers": ["HP:0001501", "UMLS:C1861360"], "information_content": 100.0}
{"id": "MONDO:0011264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia 6", "equivalent_identifiers": ["MONDO:0011264", "DOID:0090039", "OMIM:602629", "orphanet:98806", "UMLS:C1414216", "MESH:C538003", "NCIT:C156361", "SNOMEDCT:702448007", "medgen:236274"], "information_content": 100.0}
{"id": "MONDO:0000482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Writer's cramp", "equivalent_identifiers": ["MONDO:0000482", "DOID:0050841", "UMLS:C0154676", "MEDDRA:10031084", "SNOMEDCT:52008007", "medgen:57821", "ICD9:333.84", "HP:0002356"], "information_content": 100.0}
{"id": "MONDO:0019771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oromandibular dystonia", "equivalent_identifiers": ["MONDO:0019771", "DOID:0050843", "orphanet:93958", "UMLS:C2242577", "MEDDRA:10067954", "medgen:473560", "icd11.foundation:749381409", "HP:0012048"], "information_content": 100.0}
{"id": "MONDO:0000485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysphonia", "equivalent_identifiers": ["MONDO:0000485", "DOID:0050844", "UMLS:C1963946", "MESH:D055154", "MEDDRA:10067678", "SNOMEDCT:3331000119108", "medgen:409603", "HP:0012049"], "information_content": 100.0}
{"id": "HP:0031008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lingual dystonia", "equivalent_identifiers": ["HP:0031008", "UMLS:C2242579", "MEDDRA:10067955", "MEDDRA:10067956"], "information_content": 100.0}
{"id": "MONDO:0044843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia", "equivalent_identifiers": ["MONDO:0044843", "UMLS:C0013423", "SNOMEDCT:431034009", "medgen:3941", "HP:0001304"], "information_content": 95.4}
{"id": "MONDO:0013391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sterol carrier protein 2 deficiency", "equivalent_identifiers": ["MONDO:0013391", "OMIM:613724", "orphanet:163684", "UMLS:C3150990", "SNOMEDCT:1296861002", "medgen:462340"], "information_content": 100.0}
{"id": "HP:0034721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating pristanic acid concentration", "equivalent_identifiers": ["HP:0034721", "UMLS:C5826613"], "information_content": 100.0}
{"id": "HP:0012692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal T2 hyperintense thalamic lesion", "equivalent_identifiers": ["HP:0012692", "UMLS:C4022774"], "information_content": 100.0}
{"id": "HP:0000514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slowed saccades", "equivalent_identifiers": ["HP:0000514", "UMLS:C1321329", "SNOMEDCT:404686001"], "information_content": 95.4}
{"id": "MONDO:0007053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restless legs syndrome, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0007053", "OMIM:102300", "UMLS:C1876177", "UMLS:C3888109", "MESH:C538443", "medgen:360293"], "information_content": 100.0}
{"id": "MONDO:0005391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restless legs", "equivalent_identifiers": ["MONDO:0005391", "DOID:0050425", "EFO:0004270", "UMLS:C0035258", "MESH:D012148", "MEDDRA:10024183", "MEDDRA:10038741", "MEDDRA:10038742", "MEDDRA:10042841", "MEDDRA:10058920", "MEDDRA:10080298", "MEDDRA:10083511", "NCIT:C84501", "SNOMEDCT:32914008", "medgen:48427", "icd11.foundation:1254916765", "ICD10:G25.81", "ICD9:333.94", "HP:0012452"], "information_content": 84.8}
{"id": "HP:0008991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced leg cramps", "equivalent_identifiers": ["HP:0008991", "UMLS:C4024607"], "information_content": 100.0}
{"id": "MONDO:0054602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gaze palsy, familial horizontal, with progressive scoliosis, 2", "equivalent_identifiers": ["MONDO:0054602", "OMIM:617542", "UMLS:C4479640", "medgen:1393733"], "information_content": 100.0}
{"id": "HP:0030301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the anterior commissure", "equivalent_identifiers": ["HP:0030301", "UMLS:C4022525"], "information_content": 79.9}
{"id": "HP:0010664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusion of the left and right thalami", "equivalent_identifiers": ["HP:0010664", "UMLS:C1834930", "UMLS:C4020769"], "information_content": 100.0}
{"id": "HP:0033646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent hippocampal commissure", "equivalent_identifiers": ["HP:0033646", "UMLS:C4479643"], "information_content": 100.0}
{"id": "MONDO:0015419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "midline cervical cleft", "equivalent_identifiers": ["MONDO:0015419", "orphanet:141288", "UMLS:C4479645", "MESH:C000719407", "SNOMEDCT:403557001", "medgen:1374384", "icd11.foundation:1138096311", "HP:0033645"], "information_content": 100.0}
{"id": "HP:0032327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interhemispheric cyst", "equivalent_identifiers": ["HP:0032327", "UMLS:C1853188"], "information_content": 100.0}
{"id": "MONDO:0013549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "N-acetylaspartate deficiency", "equivalent_identifiers": ["MONDO:0013549", "OMIM:614063", "UMLS:C3279716", "medgen:481346"], "information_content": 100.0}
{"id": "HP:0012708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced brain N-acetyl aspartate level by MRS", "equivalent_identifiers": ["HP:0012708", "UMLS:C4022761"], "information_content": 100.0}
{"id": "HP:0025336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ability to sit", "equivalent_identifiers": ["HP:0025336", "UMLS:C4476710"], "information_content": 100.0}
{"id": "MONDO:0032855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies", "equivalent_identifiers": ["MONDO:0032855", "OMIM:618659", "EFO:0010659", "UMLS:C5231448", "medgen:1684792"], "information_content": 100.0}
{"id": "HP:0012585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal atrophy", "equivalent_identifiers": ["HP:0012585", "UMLS:C0341698", "MEDDRA:10003701", "MEDDRA:10023396", "MEDDRA:10023397", "MEDDRA:10038381", "SNOMEDCT:197659005"], "information_content": 83.1}
{"id": "HP:0009904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large helix", "equivalent_identifiers": ["HP:0009904", "UMLS:C4020776", "UMLS:C4024165"], "information_content": 100.0}
{"id": "MONDO:0012439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alagille syndrome due to a NOTCH2 point mutation", "equivalent_identifiers": ["MONDO:0012439", "OMIM:610205", "orphanet:261629", "UMLS:C1857761", "medgen:341844"], "information_content": 100.0}
{"id": "HP:0003189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long nose", "equivalent_identifiers": ["HP:0003189", "UMLS:C1839798"], "information_content": 100.0}
{"id": "HP:0004969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral pulmonary artery stenosis", "equivalent_identifiers": ["HP:0004969", "UMLS:C0345030", "UMLS:C5826345", "SNOMEDCT:253631001"], "information_content": 100.0}
{"id": "HP:0002611", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cholestatic liver disease", "equivalent_identifiers": ["HP:0002611", "UMLS:C0860204", "MEDDRA:10008641"], "information_content": 95.4}
{"id": "MONDO:0007138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 1", "equivalent_identifiers": ["MONDO:0007138", "DOID:0080606", "OMIM:107250", "UMLS:C4551992", "medgen:1631197"], "information_content": 100.0}
{"id": "HP:0001115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior polar cataract", "equivalent_identifiers": ["HP:0001115", "UMLS:C1850191"], "information_content": 100.0}
{"id": "MONDO:0019503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis", "equivalent_identifiers": ["MONDO:0019503", "DOID:0060648", "OMIM.PS:107250", "orphanet:88632", "UMLS:C0266525", "UMLS:C1862839", "MESH:C537775", "SNOMEDCT:65075004", "medgen:350766", "icd11.foundation:1182282997", "icd11.foundation:943599144", "ICD10:Q13.8", "HP:0007700"], "information_content": 77.1}
{"id": "MONDO:0030105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactosemia 4", "equivalent_identifiers": ["MONDO:0030105", "DOID:0060969", "OMIM:618881", "orphanet:570422", "UMLS:C5394377", "SNOMEDCT:1187616008", "medgen:1718159"], "information_content": 100.0}
{"id": "MONDO:0018116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactosemia", "equivalent_identifiers": ["MONDO:0018116", "DOID:9870", "OMIM.PS:230400", "orphanet:352", "UMLS:C0016952", "UMLS:C4023071", "MESH:D005693", "MEDDRA:10017604", "MEDDRA:10017605", "MEDDRA:10017610", "NCIT:C84723", "SNOMEDCT:190745006", "medgen:8943", "ICD10:E74.21", "ICD9:271.1", "HP:0012024"], "information_content": 87.2}
{"id": "MONDO:0030982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfide quinone oxidoreductase deficiency", "equivalent_identifiers": ["MONDO:0030982", "OMIM:619221", "UMLS:C5543168", "medgen:1780603"], "information_content": 100.0}
{"id": "MONDO:0005277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine", "equivalent_identifiers": ["MONDO:0005277", "DOID:6364", "UMLS:C0042331", "UMLS:C0149931", "UMLS:C0744641", "MESH:D008881", "MEDDRA:10027599", "MEDDRA:10027602", "MEDDRA:10027603", "MEDDRA:10027605", "MEDDRA:10027606", "MEDDRA:10027608", "MEDDRA:10027611", "NCIT:C89715", "SNOMEDCT:193030005", "medgen:57451", "ICD10:G43", "ICD9:346", "HP:0002076"], "information_content": 81.3}
{"id": "HP:0012707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated brain lactate level by MRS", "equivalent_identifiers": ["HP:0012707", "UMLS:C4022762"], "information_content": 100.0}
{"id": "MONDO:0009541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis", "equivalent_identifiers": ["MONDO:0009541", "OMIM:247800", "UMLS:C1855470", "MESH:C565427", "medgen:340877"], "information_content": 100.0}
{"id": "MONDO:0003783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphopenia", "equivalent_identifiers": ["MONDO:0003783", "DOID:614", "UMLS:C0024312", "UMLS:C0300946", "UMLS:C0853986", "MESH:D008231", "MEDDRA:10025256", "MEDDRA:10025259", "MEDDRA:10025278", "MEDDRA:10025327", "MEDDRA:10091012", "NCIT:C26823", "SNOMEDCT:48813009", "medgen:7418", "icd11.foundation:298296736", "ICD10:D72.810", "ICD9:288.51", "HP:0001888"], "information_content": 90.9}
{"id": "HP:0030150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plasmacytosis", "equivalent_identifiers": ["HP:0030150", "NCIT:C96278", "UMLS:C0549295", "UMLS:C5848129", "MEDDRA:10035231"], "information_content": 100.0}
{"id": "HP:0010702", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating immunoglobulin concentration", "equivalent_identifiers": ["HP:0010702", "NCIT:C34705", "UMLS:C0020455", "UMLS:C0151669", "UMLS:C0541985", "UMLS:C1306857", "UMLS:C2048011", "MEDDRA:10017662", "MEDDRA:10017666", "MEDDRA:10020630", "MEDDRA:10020633", "MEDDRA:10020634", "MEDDRA:10054408", "MEDDRA:10056733", "MEDDRA:10086667", "MEDDRA:10086682", "SNOMEDCT:127388009", "SNOMEDCT:129646001", "MESH:D006942"], "information_content": 73.6}
{"id": "MONDO:0009259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gamma-glutamylcysteine synthetase deficiency", "equivalent_identifiers": ["MONDO:0009259", "DOID:0111681", "OMIM:230450", "orphanet:33574", "UMLS:C0268523", "UMLS:C1856603", "MESH:C565557", "SNOMEDCT:36799008", "medgen:347272"], "information_content": 100.0}
{"id": "HP:6000132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte gamma-glutamyl cysteine synthetase activity", "equivalent_identifiers": ["HP:6000132", "UMLS:C5936986"], "information_content": 100.0}
{"id": "HP:0006904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late-onset spinocerebellar degeneration", "equivalent_identifiers": ["HP:0006904", "UMLS:C1856604"], "information_content": 100.0}
{"id": "HP:6000834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary gamma-glutamylcysteine level", "equivalent_identifiers": ["HP:6000834", "UMLS:C5937554"], "information_content": 100.0}
{"id": "MONDO:0014494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 15", "equivalent_identifiers": ["MONDO:0014494", "DOID:0111281", "OMIM:616106", "UMLS:C4015235", "medgen:863672"], "information_content": 100.0}
{"id": "MONDO:0005083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis", "equivalent_identifiers": ["MONDO:0005083", "DOID:8893", "OMIM.PS:177900", "EFO:0000676", "UMLS:C0033860", "UMLS:C0262985", "MESH:D011565", "MEDDRA:10037153", "MEDDRA:10058675", "NCIT:C27724", "NCIT:C3346", "SNOMEDCT:238564003", "SNOMEDCT:52230004", "SNOMEDCT:9014002", "medgen:10997", "icd11.foundation:63698555", "ICD10:L40", "HP:0003765"], "information_content": 78.5}
{"id": "MONDO:0010803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eiken syndrome", "equivalent_identifiers": ["MONDO:0010803", "DOID:0111732", "OMIM:600002", "orphanet:79106", "UMLS:C1838779", "MESH:C564010", "SNOMEDCT:720863002", "medgen:325097", "icd11.foundation:467339994"], "information_content": 100.0}
{"id": "HP:0003038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular hypoplasia", "equivalent_identifiers": ["HP:0003038", "UMLS:C1832119"], "information_content": 92.8}
{"id": "HP:0006429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad femoral neck", "equivalent_identifiers": ["HP:0006429", "UMLS:C1849016"], "information_content": 95.4}
{"id": "MONDO:0010629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "impacted teeth, multiple", "equivalent_identifiers": ["MONDO:0010629", "OMIM:308280", "UMLS:C1839965", "UMLS:C4280593", "medgen:327004", "HP:0001571"], "information_content": 100.0}
{"id": "HP:0003071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened epiphysis", "equivalent_identifiers": ["HP:0003071", "UMLS:C1857527"], "information_content": 84.8}
{"id": "HP:0006335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistence of primary teeth", "equivalent_identifiers": ["HP:0006335", "UMLS:C0266050", "MEDDRA:10070573", "SNOMEDCT:1172951004", "SNOMEDCT:57650002"], "information_content": 100.0}
{"id": "HP:0001783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad metatarsal", "equivalent_identifiers": ["HP:0001783", "UMLS:C1842231", "UMLS:C1850161"], "information_content": 95.4}
{"id": "HP:0003180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat acetabular roof", "equivalent_identifiers": ["HP:0003180", "UMLS:C1837485"], "information_content": 100.0}
{"id": "MONDO:0007215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A1", "equivalent_identifiers": ["MONDO:0007215", "DOID:0110964", "OMIM:112500", "orphanet:93388", "UMLS:C1862151", "MESH:C537088", "SNOMEDCT:715720006", "medgen:354673", "icd11.foundation:568452529", "HP:0009371"], "information_content": 100.0}
{"id": "MONDO:0100471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D deficiency", "equivalent_identifiers": ["MONDO:0100471", "EFO:0003762", "UMLS:C0042870", "UMLS:C5886864", "MESH:D014808", "MEDDRA:10046242", "MEDDRA:10047626", "MEDDRA:10074543", "NCIT:C114830", "SNOMEDCT:34713006", "medgen:12114", "icd11.foundation:2080031371", "ICD10:E55", "ICD9:268", "HP:0100512"], "information_content": 78.3}
{"id": "HP:0010584", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphyses", "equivalent_identifiers": ["HP:0010584", "UMLS:C1841685"], "information_content": 73.9}
{"id": "HP:0006283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple unerupted teeth", "equivalent_identifiers": ["HP:0006283", "UMLS:C4025069"], "information_content": 100.0}
{"id": "HP:0000706", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unerupted tooth", "equivalent_identifiers": ["HP:0000706", "UMLS:C0040458", "UMLS:C1290587", "SNOMEDCT:109542004", "SNOMEDCT:278658009", "MESH:D014097"], "information_content": 89.4}
{"id": "HP:0008103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed tarsal ossification", "equivalent_identifiers": ["HP:0008103", "UMLS:C1846853", "UMLS:C4280418"], "information_content": 92.8}
{"id": "HP:0000885", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad ribs", "equivalent_identifiers": ["HP:0000885", "UMLS:C1848654"], "information_content": 92.8}
{"id": "MONDO:0030449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 118, with cochlear aplasia", "equivalent_identifiers": ["MONDO:0030449", "OMIM:619553", "UMLS:C5561996", "medgen:1794206"], "information_content": 100.0}
{"id": "HP:0001751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vestibular function", "equivalent_identifiers": ["HP:0001751", "UMLS:C1843865"], "information_content": 64.3}
{"id": "HP:0011375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cochlear aplasia", "equivalent_identifiers": ["HP:0011375", "UMLS:C4023390"], "information_content": 95.4}
{"id": "HP:0008527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital sensorineural hearing impairment", "equivalent_identifiers": ["HP:0008527", "UMLS:C1865866", "UMLS:C5399981", "MEDDRA:10085039", "SNOMEDCT:700453005"], "information_content": 100.0}
{"id": "MONDO:0014150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 94", "equivalent_identifiers": ["MONDO:0014150", "DOID:0081325", "OMIM:615369", "EFO:0020000", "UMLS:C3809278", "NCIT:C172100", "medgen:815608"], "information_content": 100.0}
{"id": "HP:0031475", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Status epilepticus without prominent motor symptoms", "equivalent_identifiers": ["HP:0031475", "NCIT:C155291", "UMLS:C0751523", "MEDDRA:10057769", "SNOMEDCT:442512002"], "information_content": 83.6}
{"id": "HP:0012000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with generalized spikes", "equivalent_identifiers": ["HP:0012000", "UMLS:C2206531"], "information_content": 100.0}
{"id": "HP:0012001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with generalized polyspikes", "equivalent_identifiers": ["HP:0012001", "UMLS:C4023088"], "information_content": 100.0}
{"id": "MONDO:0012895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia 17", "equivalent_identifiers": ["MONDO:0012895", "DOID:0090042", "OMIM:612406", "orphanet:370103", "UMLS:C2676281", "MESH:C567319", "medgen:391003"], "information_content": 100.0}
{"id": "MONDO:0000477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal dystonia", "equivalent_identifiers": ["MONDO:0000477", "DOID:0050836", "UMLS:C0743332", "MEDDRA:10088381", "SNOMEDCT:445006008", "medgen:149279", "HP:0004373"], "information_content": 81.7}
{"id": "MONDO:0013386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 74", "equivalent_identifiers": ["MONDO:0013386", "DOID:0110523", "OMIM:613718", "UMLS:C2239351", "medgen:453237"], "information_content": 100.0}
{"id": "MONDO:0013560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 8", "equivalent_identifiers": ["MONDO:0013560", "DOID:0060546", "OMIM:614077", "UMLS:C3888026", "medgen:854728"], "information_content": 100.0}
{"id": "HP:0030139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excessive bleeding after a venipuncture", "equivalent_identifiers": ["HP:0030139", "UMLS:C4022609"], "information_content": 100.0}
{"id": "HP:0030138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excessive bleeding from superficial cuts", "equivalent_identifiers": ["HP:0030138", "UMLS:C4022610"], "information_content": 100.0}
{"id": "HP:0031729", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate hypermetropia", "equivalent_identifiers": ["HP:0031729", "UMLS:C4703504"], "information_content": 100.0}
{"id": "HP:0012805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris transillumination defect", "equivalent_identifiers": ["HP:0012805", "UMLS:C1096099", "MEDDRA:10053677"], "information_content": 100.0}
{"id": "HP:0500041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myopic astigmatism", "equivalent_identifiers": ["HP:0500041", "UMLS:C2363771", "MEDDRA:10068387", "SNOMEDCT:449724005"], "information_content": 100.0}
{"id": "MONDO:0009392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperopia, high", "equivalent_identifiers": ["MONDO:0009392", "OMIM:238950", "UMLS:C1855925", "UMLS:C4024665", "MESH:C565497", "medgen:341009", "HP:0008499"], "information_content": 95.4}
{"id": "HP:0000635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blue irides", "equivalent_identifiers": ["HP:0000635", "UMLS:C0578626", "SNOMEDCT:301952009"], "information_content": 100.0}
{"id": "HP:0012043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pendular nystagmus", "equivalent_identifiers": ["HP:0012043", "UMLS:C0271388", "UMLS:C4020734", "SNOMEDCT:35743001"], "information_content": 90.9}
{"id": "HP:0007513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hypopigmentation", "equivalent_identifiers": ["HP:0007513", "UMLS:C1849923"], "information_content": 90.9}
{"id": "MONDO:0600024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial idiopathic inflammatory myopathy", "equivalent_identifiers": ["MONDO:0600024", "OMIM:160750", "UMLS:C3888318", "MESH:C000598744", "medgen:854861"], "information_content": 100.0}
{"id": "MONDO:0021167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myositis", "equivalent_identifiers": ["MONDO:0021167", "DOID:633", "EFO:0000783", "UMLS:C0027121", "MESH:D009220", "MEDDRA:10028313", "MEDDRA:10028653", "NCIT:C27578", "SNOMEDCT:128496001", "SNOMEDCT:26889001", "medgen:44564", "ICD10:M60", "HP:0100614"], "information_content": 73.3}
{"id": "MONDO:0011862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 24", "equivalent_identifiers": ["MONDO:0011862", "DOID:0110775", "OMIM:607584", "orphanet:101004", "UMLS:C1843569", "MESH:C564375", "SNOMEDCT:785304005", "medgen:334784"], "information_content": 100.0}
{"id": "MONDO:0011734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardioneuromyopathy with hyaline masses and nemaline rods", "equivalent_identifiers": ["MONDO:0011734", "OMIM:606842", "UMLS:C1847387", "MESH:C564655", "medgen:339747"], "information_content": 100.0}
{"id": "HP:0005986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck Stiffness", "equivalent_identifiers": ["HP:0005986", "NCIT:C50664", "UMLS:C0151315", "UMLS:C0581351", "UMLS:C1320474", "UMLS:C1847392", "MEDDRA:10028838", "MEDDRA:10028839", "MEDDRA:10028842", "MEDDRA:10028843", "MEDDRA:10039173", "MEDDRA:10042043", "MEDDRA:10058483", "SNOMEDCT:161882006", "SNOMEDCT:405947006"], "information_content": 85.5}
{"id": "HP:0004575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusion of midcervical facet joints", "equivalent_identifiers": ["HP:0004575", "UMLS:C1847394"], "information_content": 100.0}
{"id": "HP:0004571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widening of cervical spinal canal", "equivalent_identifiers": ["HP:0004571", "UMLS:C3807591"], "information_content": 100.0}
{"id": "HP:0005185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Global systolic dysfunction", "equivalent_identifiers": ["HP:0005185", "UMLS:C1847397"], "information_content": 100.0}
{"id": "HP:0008483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical vertebral bodies with decreased anteroposterior diameter", "equivalent_identifiers": ["HP:0008483", "UMLS:C1847393"], "information_content": 100.0}
{"id": "MONDO:0014663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silver-Russell syndrome 3", "equivalent_identifiers": ["MONDO:0014663", "OMIM:616489", "UMLS:C4225307", "medgen:894912"], "information_content": 100.0}
{"id": "HP:0012741", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral cryptorchidism", "equivalent_identifiers": ["HP:0012741", "UMLS:C0431664", "SNOMEDCT:268227001"], "information_content": 100.0}
{"id": "HP:0000995", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melanocytic nevus", "equivalent_identifiers": ["HP:0000995", "UMLS:C4280269"], "information_content": 89.4}
{"id": "HP:0000808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Penoscrotal hypospadias", "equivalent_identifiers": ["HP:0000808", "UMLS:C0452147", "SNOMEDCT:204889008"], "information_content": 100.0}
{"id": "MONDO:0011547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 31 multiple types", "equivalent_identifiers": ["MONDO:0011547", "DOID:0110265", "OMIM:605387", "UMLS:C1854311", "MESH:C535343", "medgen:343089"], "information_content": 100.0}
{"id": "HP:0010923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior subcapsular cataract", "equivalent_identifiers": ["HP:0010923", "UMLS:C1112768", "MEDDRA:10057486", "SNOMEDCT:315352000"], "information_content": 95.4}
{"id": "MONDO:0009755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical nevus", "equivalent_identifiers": ["MONDO:0009755", "OMIM:257150", "UMLS:C0205748", "UMLS:C1850380", "MESH:C564942", "MEDDRA:10013961", "MEDDRA:10062805", "MEDDRA:10087538", "MEDDRA:10087540", "MEDDRA:10090050", "MEDDRA:10090051", "MEDDRA:10090052", "MEDDRA:10090053", "NCIT:C3694", "SNOMEDCT:254818000", "SNOMEDCT:61814002", "medgen:338036", "HP:0001062"], "information_content": 95.4}
{"id": "OMIM:606856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 1", "equivalent_identifiers": ["OMIM:606856", "UMLS:C1847351"]}
{"id": "MONDO:0006047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic adenocarcinoma", "equivalent_identifiers": ["MONDO:0006047", "DOID:4074", "EFO:1000044", "UMLS:C0281361", "MEDDRA:10051971", "MEDDRA:10052747", "NCIT:C8294", "SNOMEDCT:700423003", "medgen:83800", "HP:0006725"], "information_content": 72.5}
{"id": "MONDO:0033280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome 16", "equivalent_identifiers": ["MONDO:0033280", "DOID:0080272", "OMIM:617783", "UMLS:C4540453", "medgen:1622427"], "information_content": 100.0}
{"id": "MONDO:0009146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia-sensorineural deafness syndrome", "equivalent_identifiers": ["MONDO:0009146", "OMIM:224800", "orphanet:1883", "UMLS:C1857068", "UMLS:C2931012", "MESH:C535757", "MESH:C565606", "medgen:346503"], "information_content": 100.0}
{"id": "MONDO:0007510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clouston syndrome", "equivalent_identifiers": ["MONDO:0007510", "DOID:14693", "OMIM:129500", "orphanet:189", "UMLS:C0162361", "MEDDRA:10073859", "MEDDRA:10073864", "SNOMEDCT:54209007", "medgen:56416", "HP:0007529"], "information_content": 100.0}
{"id": "MONDO:0012678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 5", "equivalent_identifiers": ["MONDO:0012678", "OMIM:611494", "UMLS:C1969099", "MESH:C566932", "medgen:369411"], "information_content": 100.0}
{"id": "MONDO:0008722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short chain acyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0008722", "DOID:0080154", "OMIM:201470", "orphanet:26792", "UMLS:C0342783", "MESH:C537596", "MEDDRA:10072279", "MEDDRA:10072655", "NCIT:C84539", "SNOMEDCT:124166007", "SNOMEDCT:787412002", "medgen:90998", "icd11.foundation:180018315"], "information_content": 100.0}
{"id": "HP:0010695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sutural cataract", "equivalent_identifiers": ["HP:0010695", "UMLS:C4023734"], "information_content": 95.4}
{"id": "MONDO:0005485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psychosis", "equivalent_identifiers": ["MONDO:0005485", "DOID:2468", "EFO:0005407", "UMLS:C0029516", "UMLS:C0033975", "MESH:D011618", "MEDDRA:10037234", "MEDDRA:10037241", "MEDDRA:10037248", "MEDDRA:10037253", "MEDDRA:10046122", "MEDDRA:10059419", "MEDDRA:10061920", "NCIT:C78576", "SNOMEDCT:69322001", "medgen:19568", "ICD9:298.8", "HP:0000709"], "information_content": 76.2}
{"id": "HP:0003219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ethylmalonic aciduria", "equivalent_identifiers": ["HP:0003219", "UMLS:C1865353"], "information_content": 95.4}
{"id": "HP:0004911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic metabolic acidosis", "equivalent_identifiers": ["HP:0004911", "UMLS:C1859516"], "information_content": 100.0}
{"id": "MONDO:0005181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia", "equivalent_identifiers": ["MONDO:0005181", "DOID:12558", "orphanet:520820", "EFO:0002509", "UMLS:C0162292", "UMLS:C0162674", "MESH:D017246", "MEDDRA:10015754", "MEDDRA:10015830", "MEDDRA:10030876", "MEDDRA:10033561", "MEDDRA:10036802", "MEDDRA:10069852", "SNOMEDCT:19373007", "SNOMEDCT:46252003", "medgen:102439", "icd11.foundation:1698427219", "ICD10:H49.4", "ICD9:378.72", "HP:0000544"], "information_content": 81.3}
{"id": "MONDO:0010164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phocomelia, Schinzel type", "equivalent_identifiers": ["MONDO:0010164", "DOID:0112181", "OMIM:276820", "orphanet:2879", "UMLS:C1848651", "MESH:C535612", "SNOMEDCT:715522000", "medgen:336388", "icd11.foundation:1732271544"], "information_content": 100.0}
{"id": "HP:0009815", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia of the extremities", "equivalent_identifiers": ["HP:0009815", "UMLS:C4551464"], "information_content": 60.3}
{"id": "HP:0000046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small scrotum", "equivalent_identifiers": ["HP:0000046", "UMLS:C0431659", "UMLS:C0455792", "MEDDRA:10057861", "SNOMEDCT:204912007", "SNOMEDCT:276332008"], "information_content": 95.4}
{"id": "HP:0003070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elbow ankylosis", "equivalent_identifiers": ["HP:0003070", "UMLS:C0409477", "MEDDRA:10002562", "SNOMEDCT:202307002"], "information_content": 100.0}
{"id": "HP:0009380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger aplasia", "equivalent_identifiers": ["HP:0009380", "UMLS:C0728895", "UMLS:C5779506", "MEDDRA:10070979", "SNOMEDCT:1144459004", "SNOMEDCT:71358006"], "information_content": 77.1}
{"id": "HP:0010173", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the toes", "equivalent_identifiers": ["HP:0010173", "UMLS:C4023987"], "information_content": 72.1}
{"id": "HP:0001849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of toe", "equivalent_identifiers": ["HP:0001849", "UMLS:C0426934", "UMLS:C4281601", "SNOMEDCT:249820005"], "information_content": 95.4}
{"id": "HP:0000916", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad clavicles", "equivalent_identifiers": ["HP:0000916", "UMLS:C0426801", "SNOMEDCT:249680009"], "information_content": 100.0}
{"id": "HP:0009104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the pubic bone", "equivalent_identifiers": ["HP:0009104", "UMLS:C1849305"], "information_content": 86.3}
{"id": "HP:0001964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of metatarsal bones", "equivalent_identifiers": ["HP:0001964", "UMLS:C1860182"], "information_content": 83.1}
{"id": "HP:0008363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the tarsal bones", "equivalent_identifiers": ["HP:0008363", "UMLS:C1848671"], "information_content": 92.8}
{"id": "HP:0000884", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent sternum", "equivalent_identifiers": ["HP:0000884", "UMLS:C1846433"], "information_content": 100.0}
{"id": "HP:0006502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the carpal bones", "equivalent_identifiers": ["HP:0006502", "UMLS:C4025033"], "information_content": 87.2}
{"id": "HP:0005613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia of the femur", "equivalent_identifiers": ["HP:0005613", "UMLS:C1851310"], "information_content": 84.2}
{"id": "HP:0005474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased calvarial ossification", "equivalent_identifiers": ["HP:0005474", "UMLS:C1833762", "UMLS:C5139041"], "information_content": 95.4}
{"id": "HP:0003252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anteriorly displaced genitalia", "equivalent_identifiers": ["HP:0003252", "UMLS:C1848653"], "information_content": 100.0}
{"id": "HP:0002436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Occipital meningocele", "equivalent_identifiers": ["HP:0002436", "UMLS:C1848652", "SNOMEDCT:445468002"], "information_content": 95.4}
{"id": "MONDO:0017441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phocomelia", "equivalent_identifiers": ["MONDO:0017441", "orphanet:294975", "UMLS:C0031575", "UMLS:C0265574", "MEDDRA:10034923", "NCIT:C34928", "SNOMEDCT:22841008", "SNOMEDCT:78018008", "medgen:539337", "icd11.foundation:1157109358", "HP:0009829"], "information_content": 90.9}
{"id": "HP:0008817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplastic pubic bone", "equivalent_identifiers": ["HP:0008817", "UMLS:C1848660"], "information_content": 100.0}
{"id": "HP:0003982", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of ulna", "equivalent_identifiers": ["HP:0003982", "UMLS:C2678397", "SNOMEDCT:1145472009"], "information_content": 95.4}
{"id": "HP:0004231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpal bone aplasia", "equivalent_identifiers": ["HP:0004231", "UMLS:C1836219", "UMLS:C4280537", "SNOMEDCT:1145519007"], "information_content": 95.4}
{"id": "HP:0000151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uterus Absent", "equivalent_identifiers": ["HP:0000151", "NCIT:C138958", "UMLS:C0425913", "SNOMEDCT:248942000"], "information_content": 95.4}
{"id": "HP:0400004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long ear", "equivalent_identifiers": ["HP:0400004", "UMLS:C1848657"], "information_content": 95.4}
{"id": "HP:0005914", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the metacarpal bones", "equivalent_identifiers": ["HP:0005914", "UMLS:C1836192"], "information_content": 78.8}
{"id": "MONDO:0008798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ANONYCHIA", "equivalent_identifiers": ["MONDO:0008798", "DOID:0080082", "OMIM:206800", "orphanet:94150", "UMLS:C0265998", "UMLS:C3277900", "MESH:C536377", "MEDDRA:10081861", "SNOMEDCT:23610003", "medgen:120563", "HP:0001798"], "information_content": 86.3}
{"id": "MONDO:0009579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frank-Ter Haar syndrome", "equivalent_identifiers": ["MONDO:0009579", "DOID:0111789", "OMIM:249420", "orphanet:137834", "UMLS:C1855305", "MESH:C536577", "MESH:C537274", "SNOMEDCT:720958002", "medgen:383652", "icd11.foundation:1643548765"], "information_content": 100.0}
{"id": "HP:0005731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical irregularity", "equivalent_identifiers": ["HP:0005731", "UMLS:C4025145"], "information_content": 92.8}
{"id": "HP:0040016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent coccyx", "equivalent_identifiers": ["HP:0040016", "UMLS:C4022490"], "information_content": 95.4}
{"id": "HP:0004611", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior concavity of thoracic vertebrae", "equivalent_identifiers": ["HP:0004611", "UMLS:C1839822"], "information_content": 100.0}
{"id": "HP:0001776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral talipes equinovarus", "equivalent_identifiers": ["HP:0001776", "UMLS:C1837835", "SNOMEDCT:897575007"], "information_content": 100.0}
{"id": "HP:0003015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared metaphysis", "equivalent_identifiers": ["HP:0003015", "UMLS:C1850135"], "information_content": 84.8}
{"id": "HP:0009803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short phalanx of finger", "equivalent_identifiers": ["HP:0009803", "UMLS:C0877165", "MEDDRA:10049212"], "information_content": 79.3}
{"id": "HP:0006487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowing of the long bones", "equivalent_identifiers": ["HP:0006487", "UMLS:C1855340", "MEDDRA:10078297"], "information_content": 71.3}
{"id": "HP:0002645", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wormian bones", "equivalent_identifiers": ["HP:0002645", "UMLS:C0222716", "UMLS:C3553900", "SNOMEDCT:113194005"], "information_content": 100.0}
{"id": "MONDO:0014348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 42", "equivalent_identifiers": ["MONDO:0014348", "OMIM:615802", "UMLS:C4014343", "medgen:862780"], "information_content": 100.0}
{"id": "HP:0033128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ability to crawl", "equivalent_identifiers": ["HP:0033128", "UMLS:C5421628"], "information_content": 100.0}
{"id": "MONDO:0019118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited retinal dystrophy", "equivalent_identifiers": ["MONDO:0019118", "DOID:8500", "DOID:8501", "orphanet:71862", "UMLS:C0154860", "UMLS:C0854723", "MESH:D058499", "MEDDRA:10019898", "MEDDRA:10019899", "MEDDRA:10019900", "MEDDRA:10038857", "NCIT:C35194", "NCIT:C35625", "SNOMEDCT:314407005", "SNOMEDCT:41799005", "medgen:208903", "ICD9:362.7", "HP:0000556"], "information_content": 61.2}
{"id": "MONDO:0005712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital nystagmus", "equivalent_identifiers": ["MONDO:0005712", "DOID:9649", "OMIM.PS:310700", "EFO:0007217", "UMLS:C0700501", "MESH:D020417", "MEDDRA:10010562", "MEDDRA:10029867", "SNOMEDCT:64635004", "medgen:195995", "icd11.foundation:1626567380", "ICD10:H55.01", "ICD9:379.51", "HP:0006934"], "information_content": 84.2}
{"id": "HP:0032989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ability to roll over", "equivalent_identifiers": ["HP:0032989", "UMLS:C5397980"], "information_content": 100.0}
{"id": "HP:0000395", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent antihelix", "equivalent_identifiers": ["HP:0000395", "UMLS:C1845272"], "information_content": 100.0}
{"id": "HP:0100952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged sylvian cistern", "equivalent_identifiers": ["HP:0100952", "UMLS:C4020921"], "information_content": 100.0}
{"id": "HP:0011471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrostomy tube feeding in infancy", "equivalent_identifiers": ["HP:0011471", "UMLS:C4020748", "UMLS:C4023342"], "information_content": 100.0}
{"id": "HP:0000748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inappropriate laughter", "equivalent_identifiers": ["HP:0000748", "UMLS:C0424304", "MEDDRA:10021595", "SNOMEDCT:247985007"], "information_content": 95.4}
{"id": "HP:0030691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Divergence nystagmus", "equivalent_identifiers": ["HP:0030691", "UMLS:C4073130"], "information_content": 100.0}
{"id": "MONDO:0009735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Netherton syndrome", "equivalent_identifiers": ["MONDO:0009735", "DOID:0050474", "OMIM:256500", "orphanet:634", "UMLS:C5574950", "MESH:D056770", "MEDDRA:10062909", "NCIT:C84922", "SNOMEDCT:312514006", "medgen:1802991", "icd11.foundation:1797493665"], "information_content": 100.0}
{"id": "HP:0032061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severely increased total eosinophil count", "equivalent_identifiers": ["HP:0032061", "UMLS:C0745091", "MEDDRA:10064890"], "information_content": 100.0}
{"id": "MONDO:0010481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioedema", "equivalent_identifiers": ["MONDO:0010481", "DOID:1558", "EFO:0005532", "UMLS:C0002994", "MESH:D000799", "MEDDRA:10002394", "MEDDRA:10002424", "MEDDRA:10002425", "MEDDRA:10002426", "MEDDRA:10002471", "MEDDRA:10002473", "MEDDRA:10014212", "MEDDRA:10014254", "MEDDRA:10018257", "MEDDRA:10018259", "MEDDRA:10020198", "MEDDRA:10037734", "MEDDRA:10037735", "MEDDRA:10046744", "MEDDRA:10055912", "MEDDRA:10055936", "NCIT:C112175", "SNOMEDCT:400075008", "SNOMEDCT:846575004", "medgen:1543", "ICD10:T78.3", "HP:0100665"], "information_content": 79.6}
{"id": "MONDO:0001045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal atresia", "equivalent_identifiers": ["MONDO:0001045", "DOID:10486", "UMLS:C0021828", "MESH:D007409", "MEDDRA:10050083", "MEDDRA:10062022", "NCIT:C84790", "medgen:7129", "ICD10:Q41.1", "HP:0011100"], "information_content": 83.6}
{"id": "HP:0004779", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brittle scalp hair", "equivalent_identifiers": ["HP:0004779", "UMLS:C4025296"], "information_content": 100.0}
{"id": "MONDO:0043424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digestive system infectious disorder", "equivalent_identifiers": ["MONDO:0043424", "UMLS:C0729555", "UMLS:C1854495", "UMLS:C4082764", "MEDDRA:10017964", "MEDDRA:10017965", "MEDDRA:10017966", "MEDDRA:10018234", "NCIT:C35503", "SNOMEDCT:128398001", "SNOMEDCT:312158001", "SNOMEDCT:715852004", "HP:0004798"], "information_content": 63.1}
{"id": "MONDO:0005492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urticaria", "equivalent_identifiers": ["MONDO:0005492", "DOID:1555", "EFO:0005531", "UMLS:C0029839", "UMLS:C0042109", "UMLS:C0221232", "UMLS:C1536459", "MESH:D014581", "MEDDRA:10020197", "MEDDRA:10029220", "MEDDRA:10037896", "MEDDRA:10046219", "MEDDRA:10046735", "MEDDRA:10046736", "MEDDRA:10046749", "MEDDRA:10046756", "MEDDRA:10046758", "MEDDRA:10046760", "MEDDRA:10046761", "MEDDRA:10047906", "MEDDRA:10047918", "NCIT:C3432", "NCIT:C50811", "SNOMEDCT:126485001", "SNOMEDCT:247472004", "SNOMEDCT:64305001", "medgen:22587", "ICD9:708.8", "HP:0001025"], "information_content": 73.8}
{"id": "HP:0004906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypernatremic dehydration", "equivalent_identifiers": ["HP:0004906", "UMLS:C1850544", "SNOMEDCT:427784006"], "information_content": 100.0}
{"id": "HP:0002209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse scalp hair", "equivalent_identifiers": ["HP:0002209", "UMLS:C1857042", "UMLS:C1873509"], "information_content": 89.4}
{"id": "MONDO:0019306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Harlequin Fetus", "equivalent_identifiers": ["MONDO:0019306", "orphanet:79394", "UMLS:C0079154", "UMLS:C0239849", "MEDDRA:10019162", "MEDDRA:10019163", "SNOMEDCT:205550003", "SNOMEDCT:267372009", "SNOMEDCT:268245001", "medgen:38180", "icd11.foundation:546439698", "HP:0007479"], "information_content": 87.2}
{"id": "MONDO:0032785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type a10", "equivalent_identifiers": ["MONDO:0032785", "OMIM:618498", "UMLS:C5193129", "medgen:1676955"], "information_content": 100.0}
{"id": "MONDO:0019673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial polydactyly type A", "equivalent_identifiers": ["MONDO:0019673", "orphanet:93334", "UMLS:C3887487", "SNOMEDCT:715704001", "medgen:854350", "icd11.foundation:476330894", "HP:0005696"], "information_content": 84.2}
{"id": "MONDO:0859310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome 19", "equivalent_identifiers": ["MONDO:0859310", "DOID:0060960", "OMIM:620107", "UMLS:C5774248", "medgen:1824021"], "information_content": 100.0}
{"id": "HP:0002000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short columella", "equivalent_identifiers": ["HP:0002000", "UMLS:C1857479", "UMLS:C4280585"], "information_content": 100.0}
{"id": "HP:0011235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Additional crus of antihelix", "equivalent_identifiers": ["HP:0011235", "UMLS:C4023447"], "information_content": 95.4}
{"id": "HP:0000180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lobulated tongue", "equivalent_identifiers": ["HP:0000180", "UMLS:C0431564", "SNOMEDCT:253752000"], "information_content": 100.0}
{"id": "HP:0008577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underfolded helix", "equivalent_identifiers": ["HP:0008577", "UMLS:C1849735"], "information_content": 95.4}
{"id": "HP:0000456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid nasal tip", "equivalent_identifiers": ["HP:0000456", "UMLS:C0426428", "UMLS:C4020890", "SNOMEDCT:249326006"], "information_content": 95.4}
{"id": "HP:0009928", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick nasal alae", "equivalent_identifiers": ["HP:0009928", "UMLS:C1844809"], "information_content": 100.0}
{"id": "HP:0000199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue nodules", "equivalent_identifiers": ["HP:0000199", "UMLS:C0241438", "SNOMEDCT:1144643009"], "information_content": 100.0}
{"id": "HP:6000569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline notching of lower lip", "equivalent_identifiers": ["HP:6000569", "UMLS:C5937331"], "information_content": 100.0}
{"id": "HP:0011823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chin with horizontal crease", "equivalent_identifiers": ["HP:0011823", "UMLS:C4023171"], "information_content": 100.0}
{"id": "MONDO:0010420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked erythropoietic protoporphyria", "equivalent_identifiers": ["MONDO:0010420", "OMIM:300752", "orphanet:443197", "EFO:0009064", "UMLS:C2677889", "MESH:C567464", "NCIT:C172807", "SNOMEDCT:1197360001", "medgen:394385"], "information_content": 100.0}
{"id": "HP:0012187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased erythrocyte protoporphyrin concentration", "equivalent_identifiers": ["HP:0012187", "UMLS:C4023007"], "information_content": 100.0}
{"id": "MONDO:0005434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin sensitivity to sun", "equivalent_identifiers": ["MONDO:0005434", "EFO:0004795", "UMLS:C0349506", "MEDDRA:10034966", "MEDDRA:10042494", "NCIT:C38004", "SNOMEDCT:90128006", "medgen:87601", "HP:0000992"], "information_content": 73.7}
{"id": "MONDO:0030749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 3B, severe", "equivalent_identifiers": ["MONDO:0030749", "OMIM:619786", "UMLS:C5676939", "medgen:1807897"], "information_content": 100.0}
{"id": "MONDO:0020835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methemoglobinemia, alpha type", "equivalent_identifiers": ["MONDO:0020835", "OMIM:617973", "UMLS:C4693798", "medgen:1635511"], "information_content": 100.0}
{"id": "MONDO:0001117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methemoglobinemia", "equivalent_identifiers": ["MONDO:0001117", "DOID:10783", "UMLS:C0025637", "UMLS:C5700167", "MESH:D008708", "MEDDRA:10027496", "MEDDRA:10027497", "MEDDRA:10027506", "NCIT:C34817", "SNOMEDCT:131171006", "SNOMEDCT:38959009", "medgen:6339", "ICD10:D74", "ICD9:289.7", "HP:0012119"], "information_content": 86.3}
{"id": "MONDO:0008350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonic stenosis and deafness", "equivalent_identifiers": ["MONDO:0008350", "OMIM:178651", "UMLS:C1867406", "medgen:357273"], "information_content": 100.0}
{"id": "HP:0001714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular hypertrophy", "equivalent_identifiers": ["HP:0001714", "UMLS:C0340279", "MEDDRA:10047295", "SNOMEDCT:266249003"], "information_content": 83.6}
{"id": "MONDO:0859312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities", "equivalent_identifiers": ["MONDO:0859312", "OMIM:620113", "UMLS:C5774251", "medgen:1824024"], "information_content": 100.0}
{"id": "HP:0000879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short sternum", "equivalent_identifiers": ["HP:0000879", "UMLS:C0575497", "UMLS:C4020883", "SNOMEDCT:298724002"], "information_content": 95.4}
{"id": "HP:0011918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 4th toe", "equivalent_identifiers": ["HP:0011918", "UMLS:C4020740"], "information_content": 100.0}
{"id": "HP:0010747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medial flaring of the eyebrow", "equivalent_identifiers": ["HP:0010747", "UMLS:C1844562"], "information_content": 100.0}
{"id": "HP:0004935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary artery atresia", "equivalent_identifiers": ["HP:0004935", "UMLS:C0265908", "MEDDRA:10037337", "SNOMEDCT:10930001", "SNOMEDCT:204443008"], "information_content": 100.0}
{"id": "MONDO:0022236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colpocephaly", "equivalent_identifiers": ["MONDO:0022236", "UMLS:C0431384", "MESH:C535973", "MEDDRA:10064178", "SNOMEDCT:253160006", "medgen:98131", "icd11.foundation:845275248", "HP:0030048"], "information_content": 100.0}
{"id": "MONDO:0054794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus, congenital, 3, with brain anomalies", "equivalent_identifiers": ["MONDO:0054794", "OMIM:617967", "UMLS:C4747885", "medgen:1648319"], "information_content": 100.0}
{"id": "MONDO:0022685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar agenesis", "equivalent_identifiers": ["MONDO:0022685", "UMLS:C4022808", "medgen:868414", "HP:0012642"], "information_content": 100.0}
{"id": "MONDO:0016344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydranencephaly", "equivalent_identifiers": ["MONDO:0016344", "DOID:4626", "orphanet:2177", "UMLS:C0020225", "MESH:D006832", "MEDDRA:10073472", "NCIT:C98949", "SNOMEDCT:30023002", "medgen:6937", "icd11.foundation:1963574608", "HP:0002324"], "information_content": 95.4}
{"id": "MONDO:0009234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FLAUJEAC TRAIT", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009234", "DOID:0111676", "OMIM:228960", "orphanet:483", "UMLS:C0272340", "UMLS:C1856719", "UMLS:C2673570", "UMLS:C2673571", "UMLS:C2673572", "MESH:C537060", "MESH:C567116", "NCIT:C98946", "SNOMEDCT:27312002", "medgen:75780", "icd11.foundation:453135247", "HP:0005527"], "information_content": 100.0}
{"id": "MONDO:0014353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 23", "equivalent_identifiers": ["MONDO:0014353", "DOID:0111953", "OMIM:615816", "orphanet:443811", "UMLS:C1857617", "UMLS:C4014371", "MESH:C565684", "NCIT:C126339", "SNOMEDCT:1187623009", "medgen:862808"], "information_content": 100.0}
{"id": "HP:0020072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent EBV viremia", "equivalent_identifiers": ["HP:0020072", "UMLS:C3554552"], "information_content": 100.0}
{"id": "HP:0002043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophageal stricture", "equivalent_identifiers": ["HP:0002043", "NCIT:C34595", "UMLS:C4551650", "MEDDRA:10015449", "MEDDRA:10030199", "MEDDRA:10042231", "MEDDRA:10042235", "MEDDRA:10056105", "MEDDRA:10056106", "SNOMEDCT:63305008"], "information_content": 89.4}
{"id": "HP:0003474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoesthesia", "equivalent_identifiers": ["HP:0003474", "NCIT:C50445", "UMLS:C0020580", "UMLS:C5551413", "MEDDRA:10020922", "MEDDRA:10020937", "MEDDRA:10020976", "MEDDRA:10065987", "SNOMEDCT:397974008", "SNOMEDCT:398026008", "SNOMEDCT:59073000", "MESH:D006987"], "information_content": 76.4}
{"id": "MONDO:0005855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "molluscum contagiosum", "equivalent_identifiers": ["MONDO:0005855", "DOID:8867", "EFO:0007375", "UMLS:C0026393", "MESH:D008976", "MEDDRA:10027807", "MEDDRA:10027808", "MEDDRA:10027809", "MEDDRA:10027810", "NCIT:C155872", "SNOMEDCT:40070004", "medgen:10081", "icd11.foundation:82201615", "ICD10:B08.1", "ICD9:078.0", "HP:0032163"], "information_content": 95.4}
{"id": "HP:0002616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortic root aneurysm", "equivalent_identifiers": ["HP:0002616", "UMLS:C0238669", "UMLS:C1298819", "UMLS:C1298820", "SNOMEDCT:251036003", "SNOMEDCT:373133002", "SNOMEDCT:373134008", "MESH:D000094628"], "information_content": 100.0}
{"id": "MONDO:0005227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abscess", "equivalent_identifiers": ["MONDO:0005227", "EFO:0003030", "UMLS:C0000833", "MESH:D000038", "MEDDRA:10000269", "MEDDRA:10000287", "NCIT:C26686", "SNOMEDCT:128477000", "SNOMEDCT:44132006", "medgen:1684", "HP:0025615"], "information_content": 75.8}
{"id": "MONDO:0000775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug allergy", "equivalent_identifiers": ["MONDO:0000775", "DOID:0060500", "EFO:0009482", "UMLS:C0013182", "UMLS:C5139486", "MESH:D004342", "MEDDRA:10013661", "MEDDRA:10013700", "MEDDRA:10082135", "SNOMEDCT:416093006", "SNOMEDCT:416098002", "medgen:41663", "HP:0410323"], "information_content": 100.0}
{"id": "MONDO:0002461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "membranoproliferative glomerulonephritis", "equivalent_identifiers": ["MONDO:0002461", "DOID:2920", "UMLS:C0017662", "MESH:D015432", "MEDDRA:10018370", "MEDDRA:10027168", "MEDDRA:10027388", "NCIT:C34644", "SNOMEDCT:80321008", "medgen:9033", "HP:0000793"], "information_content": 90.9}
{"id": "MONDO:0020576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous vasculitis", "equivalent_identifiers": ["MONDO:0020576", "UMLS:C0262988", "MEDDRA:10011686", "MEDDRA:10040948", "MEDDRA:10040949", "NCIT:C112210", "SNOMEDCT:53312001", "medgen:488809", "HP:0200029"], "information_content": 89.4}
{"id": "HP:0011400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal CNS myelination", "equivalent_identifiers": ["HP:0011400", "UMLS:C4021152"], "information_content": 65.4}
{"id": "HP:0032170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe varicella zoster infection", "equivalent_identifiers": ["HP:0032170", "UMLS:C5139168"], "information_content": 100.0}
{"id": "MONDO:0009348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hodgkin Disease", "equivalent_identifiers": ["MONDO:0009348", "DOID:8642", "OMIM:236000", "orphanet:391", "UMLS:C0019829", "UMLS:C1333064", "UMLS:C5235037", "MEDDRA:10020206", "MEDDRA:10020255", "MEDDRA:10020309", "MEDDRA:10020318", "MEDDRA:10020328", "MEDDRA:10020329", "MEDDRA:10020339", "MEDDRA:10025319", "MEDDRA:10063666", "MEDDRA:10080208", "NCIT:C164145", "NCIT:C26956", "NCIT:C6914", "NCIT:C7164", "SNOMEDCT:1163005009", "SNOMEDCT:118599009", "SNOMEDCT:118602004", "SNOMEDCT:118605002", "SNOMEDCT:118606001", "SNOMEDCT:14537002", "SNOMEDCT:46923007", "SNOMEDCT:70600005", "SNOMEDCT:74189002", "SNOMEDCT:762690000", "SNOMEDCT:762691001", "SNOMEDCT:836276000", "SNOMEDCT:836277009", "medgen:9283", "icd11.foundation:1616050398", "HP:0012189"], "information_content": 73.0}
{"id": "HP:0040148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical myoclonus", "equivalent_identifiers": ["HP:0040148", "UMLS:C3698239", "SNOMEDCT:698835006"], "information_content": 95.4}
{"id": "HP:0002726", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent Staphylococcus aureus infections", "equivalent_identifiers": ["HP:0002726", "UMLS:C2673462"], "information_content": 100.0}
{"id": "HP:0007499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent staphylococcal infections", "equivalent_identifiers": ["HP:0007499", "UMLS:C4024862"], "information_content": 95.4}
{"id": "MONDO:0008138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic orbital border hypoplasia", "equivalent_identifiers": ["MONDO:0008138", "OMIM:165600", "orphanet:98606", "UMLS:C1833795", "UMLS:C4273912", "MESH:C563490", "SNOMEDCT:717337001", "medgen:318965"], "information_content": 100.0}
{"id": "HP:0000564", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacrimal duct atresia", "equivalent_identifiers": ["HP:0000564", "UMLS:C0344511", "SNOMEDCT:278530008"], "information_content": 100.0}
{"id": "MONDO:0015481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma of inferior eyelid", "equivalent_identifiers": ["MONDO:0015481", "orphanet:155889", "UMLS:C1837826", "SNOMEDCT:763133008", "medgen:373417", "HP:0000652"], "information_content": 100.0}
{"id": "HP:0007647", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital extraocular muscle anomaly", "equivalent_identifiers": ["HP:0007647", "UMLS:C4024823"], "information_content": 100.0}
{"id": "MONDO:0008843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome", "equivalent_identifiers": ["MONDO:0008843", "OMIM:209010", "orphanet:1192", "UMLS:C1859596", "UMLS:C2931125", "MESH:C536178", "MESH:C565928", "SNOMEDCT:720519003", "medgen:349198"], "information_content": 100.0}
{"id": "HP:0001327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Photosensitive myoclonic seizure", "equivalent_identifiers": ["HP:0001327", "UMLS:C4025791"], "information_content": 100.0}
{"id": "HP:0007201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral artery atherosclerosis", "equivalent_identifiers": ["HP:0007201", "UMLS:C4024924"], "information_content": 100.0}
{"id": "HP:0001920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal artery stenosis", "equivalent_identifiers": ["HP:0001920", "NCIT:C123221", "UMLS:C0035067", "MEDDRA:10038378", "MEDDRA:10038379", "SNOMEDCT:282664001", "SNOMEDCT:302233006"], "information_content": 89.4}
{"id": "MONDO:0958018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 27", "equivalent_identifiers": ["MONDO:0958018", "OMIM:620675", "UMLS:C5882743", "medgen:1844996"], "information_content": 100.0}
{"id": "HP:0007366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy/Degeneration affecting the brainstem", "equivalent_identifiers": ["HP:0007366", "UMLS:C4024900"], "information_content": 95.4}
{"id": "MONDO:0019046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy", "equivalent_identifiers": ["MONDO:0019046", "DOID:0050987", "DOID:0060786", "DOID:10579", "OMIM.PS:312080", "orphanet:68356", "UMLS:C0023520", "MEDDRA:10024280", "MEDDRA:10024381", "MEDDRA:10068202", "NCIT:C61253", "SNOMEDCT:192781003", "medgen:6070", "icd11.foundation:468040251", "ICD9:330.0", "HP:0002415"], "information_content": 65.9}
{"id": "HP:0002599", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Head titubation", "equivalent_identifiers": ["HP:0002599", "UMLS:C1608410", "MEDDRA:10064950"], "information_content": 100.0}
{"id": "MONDO:0011121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paragangliomas 2", "equivalent_identifiers": ["MONDO:0011121", "OMIM:601650", "UMLS:C1866552", "MESH:C566646", "medgen:357076"], "information_content": 100.0}
{"id": "MONDO:0005070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neoplasm", "equivalent_identifiers": ["MONDO:0005070", "DOID:14566", "EFO:0000616", "UMLS:C0027651", "UMLS:C4732738", "UMLS:CN236628", "MESH:D009369", "MEDDRA:10028980", "MEDDRA:10029000", "MEDDRA:10029104", "MEDDRA:10084712", "MEDDRA:10084713", "NCIT:C3262", "SNOMEDCT:108369006", "SNOMEDCT:55342001", "medgen:10294", "HP:0002664"], "information_content": 35.8}
{"id": "MONDO:0002782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranial nerve palsy", "equivalent_identifiers": ["MONDO:0002782", "DOID:3817", "EFO:0009489", "UMLS:C0151311", "UMLS:C4025709", "MEDDRA:10050039", "MEDDRA:10050355", "MEDDRA:10061908", "MEDDRA:10061911", "MEDDRA:10086555", "NCIT:C26941", "medgen:57717", "HP:0006824"], "information_content": 76.2}
{"id": "MONDO:0023682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tympanic paraganglioma", "equivalent_identifiers": ["MONDO:0023682", "UMLS:C0474820", "UMLS:C1866555", "MESH:D043604", "MEDDRA:10069919", "MEDDRA:10069920", "NCIT:C8428", "SNOMEDCT:253031000", "medgen:105375", "HP:0006715"], "information_content": 100.0}
{"id": "HP:0008629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulsatile tinnitus", "equivalent_identifiers": ["HP:0008629", "UMLS:C0395959", "UMLS:C0751559", "MEDDRA:10064630", "SNOMEDCT:232322006"], "information_content": 100.0}
{"id": "MONDO:0021064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "jugulotympanic paraganglioma", "equivalent_identifiers": ["MONDO:0021064", "EFO:1001796", "UMLS:C0017671", "MESH:D005925", "MEDDRA:10056563", "MEDDRA:10056573", "NCIT:C3061", "SNOMEDCT:127030001", "SNOMEDCT:32037004", "medgen:4905", "HP:0003001"], "information_content": 90.9}
{"id": "MONDO:0021053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chemodectoma", "equivalent_identifiers": ["MONDO:0021053", "UMLS:C0007279", "MESH:D002345", "MEDDRA:10007689", "MEDDRA:10007690", "MEDDRA:10075388", "MEDDRA:10075392", "NCIT:C2932", "SNOMEDCT:127028003", "SNOMEDCT:30699005", "medgen:2853", "HP:0030074"], "information_content": 90.9}
{"id": "HP:0001686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of voice", "equivalent_identifiers": ["HP:0001686", "NCIT:C79539", "UMLS:C0003564", "MEDDRA:10002953", "MEDDRA:10024882", "SNOMEDCT:441913003", "SNOMEDCT:44564008", "MESH:D001044"], "information_content": 85.5}
{"id": "MONDO:0044768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vagus nerve paraganglioma", "equivalent_identifiers": ["MONDO:0044768", "EFO:1000621", "UMLS:C0474819", "NCIT:C8427", "SNOMEDCT:253030004", "medgen:141635", "HP:0002886"], "information_content": 100.0}
{"id": "MONDO:0014282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 72", "equivalent_identifiers": ["MONDO:0014282", "DOID:0070642", "DOID:0110817", "OMIM:615625", "orphanet:401849", "UMLS:C5882669", "medgen:1847422"], "information_content": 100.0}
{"id": "HP:0031993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hoffmann sign", "equivalent_identifiers": ["HP:0031993", "UMLS:C0277839", "MEDDRA:10058444", "SNOMEDCT:74229007"], "information_content": 100.0}
{"id": "HP:0002839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary bladder sphincter dysfunction", "equivalent_identifiers": ["HP:0002839", "UMLS:C1843663"], "information_content": 100.0}
{"id": "MONDO:0008521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tarsal-carpal coalition syndrome", "equivalent_identifiers": ["MONDO:0008521", "DOID:0050789", "OMIM:186570", "orphanet:1412", "UMLS:C1861305", "UMLS:C1861306", "MESH:C536943", "MESH:C566089", "SNOMEDCT:702312009", "medgen:348322", "icd11.foundation:1118132902"], "information_content": 100.0}
{"id": "HP:0000364", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hearing abnormality", "equivalent_identifiers": ["HP:0000364", "UMLS:C4025860"], "information_content": 68.6}
{"id": "HP:0006152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal symphalangism of hands", "equivalent_identifiers": ["HP:0006152", "UMLS:C4021607"], "information_content": 88.2}
{"id": "HP:0006147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive fusion 2nd-5th pip joints", "equivalent_identifiers": ["HP:0006147", "UMLS:C1861310"], "information_content": 100.0}
{"id": "HP:0001204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal symphalangism of hands", "equivalent_identifiers": ["HP:0001204", "UMLS:C1862158"], "information_content": 88.2}
{"id": "DOID:0080325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tuberous sclerosis 2", "equivalent_identifiers": ["DOID:0080325", "OMIM:613254", "UMLS:C1860707", "UMLS:C2750460", "MESH:C566021", "MESH:C567682", "NCIT:C75331"], "information_content": 92.8}
{"id": "HP:0009717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical tubers", "equivalent_identifiers": ["HP:0009717", "UMLS:C1968959", "MEDDRA:10080647"], "information_content": 100.0}
{"id": "HP:0009716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subependymal nodules", "equivalent_identifiers": ["HP:0009716", "UMLS:C1968958"], "information_content": 100.0}
{"id": "HP:0009719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomelanotic macule", "equivalent_identifiers": ["HP:0009719", "UMLS:C4024220"], "information_content": 95.4}
{"id": "MONDO:0016693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subependymal giant cell astrocytoma", "equivalent_identifiers": ["MONDO:0016693", "DOID:5077", "orphanet:251618", "UMLS:C0205768", "MEDDRA:10073233", "NCIT:C3696", "SNOMEDCT:1586004", "SNOMEDCT:449799008", "medgen:61446", "HP:0009718"], "information_content": 87.2}
{"id": "MONDO:0008978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chordoma", "equivalent_identifiers": ["MONDO:0008978", "DOID:3302", "OMIM:215400", "orphanet:178", "UMLS:C0008487", "UMLS:C5441694", "MESH:D002817", "MEDDRA:10008747", "NCIT:C2947", "SNOMEDCT:1156453008", "SNOMEDCT:50007008", "medgen:40277", "icd11.foundation:898231522", "HP:0010762"], "information_content": 77.6}
{"id": "MONDO:0002375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sebaceous adenoma", "equivalent_identifiers": ["MONDO:0002375", "DOID:2648", "UMLS:C0265319", "UMLS:C1368816", "MEDDRA:10062919", "NCIT:C4174", "SNOMEDCT:307598005", "SNOMEDCT:36025004", "SNOMEDCT:78424008", "medgen:237152", "HP:0009720"], "information_content": 95.4}
{"id": "MONDO:0004555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angiomyolipoma", "equivalent_identifiers": ["MONDO:0004555", "DOID:8411", "EFO:1000312", "UMLS:C0241961", "MEDDRA:10077284", "NCIT:C3734", "NCIT:C3888", "SNOMEDCT:254921004", "medgen:69146", "HP:0006772"], "information_content": 85.5}
{"id": "HP:0009721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shagreen patch", "equivalent_identifiers": ["HP:0009721", "UMLS:C0432363", "SNOMEDCT:254244007"], "information_content": 100.0}
{"id": "HP:0009724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subungual fibromas", "equivalent_identifiers": ["HP:0009724", "UMLS:C0266003", "SNOMEDCT:39295002"], "information_content": 100.0}
{"id": "HP:0002514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral calcification", "equivalent_identifiers": ["HP:0002514", "NCIT:C40461", "UMLS:C0270685", "MEDDRA:10066296", "SNOMEDCT:17944005"], "information_content": 79.9}
{"id": "MONDO:0020492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemimegalencephaly", "equivalent_identifiers": ["MONDO:0020492", "orphanet:99802", "UMLS:C0431391", "MESH:D065705", "MEDDRA:10078100", "NCIT:C177779", "SNOMEDCT:253170008", "medgen:140910", "icd11.foundation:961229160", "HP:0007206"], "information_content": 100.0}
{"id": "HP:0009727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achromatic retinal patches", "equivalent_identifiers": ["HP:0009727", "UMLS:C1860710"], "information_content": 100.0}
{"id": "HP:0010615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angiofibromas", "equivalent_identifiers": ["HP:0010615", "EFO:1001761", "NCIT:C3799", "UMLS:C0206731", "UMLS:C4721413", "MEDDRA:10002429", "MEDDRA:10002430", "MEDDRA:10073678", "SNOMEDCT:1162933001", "SNOMEDCT:302857002", "SNOMEDCT:60392001", "MESH:D018322"], "information_content": 83.6}
{"id": "MONDO:0006123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac rhabdomyoma", "equivalent_identifiers": ["MONDO:0006123", "EFO:1000150", "UMLS:C1332852", "NCIT:C6739", "medgen:232027", "HP:0009729"], "information_content": 87.2}
{"id": "HP:0005564", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of renal corticomedullary differentiation", "equivalent_identifiers": ["HP:0005564", "UMLS:C1849765"], "information_content": 100.0}
{"id": "MONDO:0005086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal cell carcinoma", "equivalent_identifiers": ["MONDO:0005086", "DOID:4450", "orphanet:217071", "EFO:0000681", "UMLS:C0007134", "MESH:D002292", "MEDDRA:10001174", "MEDDRA:10038401", "MEDDRA:10038407", "MEDDRA:10038409", "MEDDRA:10038415", "MEDDRA:10067946", "MEDDRA:10072444", "MEDDRA:10072445", "SNOMEDCT:41607009", "SNOMEDCT:702391001", "medgen:766", "HP:0005584"], "information_content": 76.2}
{"id": "HP:0001482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcutaneous nodule", "equivalent_identifiers": ["HP:0001482", "NCIT:C39618", "UMLS:C0151811", "UMLS:C0746926", "MEDDRA:10029495", "MEDDRA:10042348", "SNOMEDCT:95325000"], "information_content": 88.2}
{"id": "MONDO:0011705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphangioleiomyomatosis", "equivalent_identifiers": ["MONDO:0011705", "OMIM:606690", "UMLS:C0238399", "UMLS:C0751674", "MESH:D018192", "MEDDRA:10049459", "MEDDRA:10049462", "NCIT:C3725", "SNOMEDCT:73017001", "medgen:148366", "icd11.foundation:902628446", "HP:0012798"], "information_content": 92.8}
{"id": "MONDO:0019781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "astrocytoma", "equivalent_identifiers": ["MONDO:0019781", "OMIM:137800", "EFO:0000272", "UMLS:C0004114", "UMLS:C1842010", "UMLS:C2750850", "UMLS:C4076130", "MESH:C564230", "MESH:D001254", "MEDDRA:10003571", "NCIT:C60781", "SNOMEDCT:1157043006", "SNOMEDCT:147101000119108", "SNOMEDCT:38713004", "medgen:438", "HP:0009592"], "information_content": 67.6}
{"id": "HP:0009594", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal hamartoma", "equivalent_identifiers": ["HP:0009594", "NCIT:C174546", "UMLS:C1863411"], "information_content": 89.4}
{"id": "MONDO:0008685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolff-Parkinson-White syndrome", "equivalent_identifiers": ["MONDO:0008685", "DOID:384", "OMIM:194200", "EFO:1001450", "UMLS:C0032915", "UMLS:C0043202", "UMLS:C0264897", "UMLS:C0392470", "MESH:D011226", "MESH:D014927", "MESH:D058606", "MEDDRA:10002611", "MEDDRA:10048015", "MEDDRA:10048041", "MEDDRA:10049291", "MEDDRA:10057634", "NCIT:C34940", "NCIT:C35132", "SNOMEDCT:16797001", "SNOMEDCT:17869006", "SNOMEDCT:74390002", "medgen:12162", "icd11.foundation:1091030330", "ICD9:426.7", "HP:0001716"], "information_content": 95.4}
{"id": "MONDO:0016070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary gingival fibromatosis", "equivalent_identifiers": ["MONDO:0016070", "DOID:0060466", "OMIM.PS:135300", "orphanet:2024", "UMLS:C0016049", "UMLS:C0399440", "UMLS:C4280677", "MESH:C562884", "MESH:D005351", "MEDDRA:10088210", "SNOMEDCT:109620006", "SNOMEDCT:58569000", "medgen:140775", "icd11.foundation:1911315646", "HP:0000169"], "information_content": 87.2}
{"id": "MONDO:0016698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ependymoma", "equivalent_identifiers": ["MONDO:0016698", "DOID:4844", "orphanet:251636", "EFO:1000028", "UMLS:C0014474", "UMLS:CN201941", "MESH:D004806", "MEDDRA:10014967", "NCIT:C3017", "SNOMEDCT:1186904005", "SNOMEDCT:443643007", "SNOMEDCT:57706008", "medgen:41825", "HP:0002888"], "information_content": 73.8}
{"id": "MONDO:0020789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudo-TORCH syndrome 1", "equivalent_identifiers": ["MONDO:0020789", "OMIM:251290", "UMLS:C4552078", "medgen:1639355"], "information_content": 100.0}
{"id": "HP:0002922", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF protein concentration", "equivalent_identifiers": ["HP:0002922", "UMLS:C1806780", "MEDDRA:10008180", "MEDDRA:10011575"], "information_content": 95.4}
{"id": "MONDO:0011746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch", "equivalent_identifiers": ["MONDO:0011746", "OMIM:606895", "UMLS:C1847185", "MESH:C538148", "medgen:376067"], "information_content": 100.0}
{"id": "MONDO:0003542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "True denticles", "equivalent_identifiers": ["MONDO:0003542", "DOID:5608", "UMLS:C0011401", "UMLS:C1527284", "UMLS:C4280259", "UMLS:C4280546", "MESH:D003784", "SNOMEDCT:57602001", "medgen:41471", "icd11.foundation:1672640309", "HP:0003771"], "information_content": 95.4}
{"id": "HP:0004253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent trapezium", "equivalent_identifiers": ["HP:0004253", "UMLS:C1847190"], "information_content": 100.0}
{"id": "HP:0011835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent scaphoid", "equivalent_identifiers": ["HP:0011835", "UMLS:C1847189"], "information_content": 100.0}
{"id": "HP:0010259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the middle phalanges of the hand", "equivalent_identifiers": ["HP:0010259", "UMLS:C1860828"], "information_content": 88.2}
{"id": "HP:0001859", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal foot symphalangism", "equivalent_identifiers": ["HP:0001859", "UMLS:C4025743"], "information_content": 88.2}
{"id": "HP:0009843", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the middle phalanges of the hand", "equivalent_identifiers": ["HP:0009843", "UMLS:C1862152"], "information_content": 80.9}
{"id": "HP:0006106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent trapezoid bone", "equivalent_identifiers": ["HP:0006106", "UMLS:C1847191"], "information_content": 100.0}
{"id": "MONDO:0013651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 18", "equivalent_identifiers": ["MONDO:0013651", "DOID:0081190", "OMIM:614249", "UMLS:C3280265", "medgen:481895"], "information_content": 100.0}
{"id": "HP:0002187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intellectual disability, profound", "equivalent_identifiers": ["HP:0002187", "UMLS:C0020796", "UMLS:C3161330", "MEDDRA:10021218", "MEDDRA:10036791", "SNOMEDCT:31216003"], "information_content": 100.0}
{"id": "HP:0002474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Expressive language delay", "equivalent_identifiers": ["HP:0002474", "UMLS:C0454641", "UMLS:C1847610", "UMLS:C4280573", "SNOMEDCT:229734008"], "information_content": 90.9}
{"id": "HP:0007030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonprogressive encephalopathy", "equivalent_identifiers": ["HP:0007030", "UMLS:C4024950"], "information_content": 95.4}
{"id": "MONDO:0008131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant", "equivalent_identifiers": ["MONDO:0008131", "OMIM:165199", "UMLS:C1833831", "MESH:C563497", "medgen:331597"], "information_content": 100.0}
{"id": "MONDO:0014063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 2", "equivalent_identifiers": ["MONDO:0014063", "DOID:0060351", "OMIM:615157", "UMLS:C3554605", "medgen:767519"], "information_content": 100.0}
{"id": "MONDO:0002017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "olivopontocerebellar atrophy", "equivalent_identifiers": ["MONDO:0002017", "DOID:14784", "UMLS:C0028968", "MESH:D009849", "MEDDRA:10057652", "NCIT:C84947", "SNOMEDCT:67761004", "medgen:10435", "icd11.foundation:1467584080", "HP:0002542"], "information_content": 100.0}
{"id": "MONDO:0000665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apraxia", "equivalent_identifiers": ["MONDO:0000665", "DOID:0060135", "UMLS:C0003635", "MESH:D001072", "MEDDRA:10003062", "MEDDRA:10013976", "NCIT:C180557", "SNOMEDCT:68345001", "SNOMEDCT:6950007", "medgen:8166", "icd11.foundation:986651951", "ICD10:R48.2", "HP:0002186"], "information_content": 83.1}
{"id": "HP:0002385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paraparesis", "equivalent_identifiers": ["HP:0002385", "NCIT:C86576", "UMLS:C0221166", "MEDDRA:10033885", "SNOMEDCT:1845001", "MESH:D020335"], "information_content": 92.8}
{"id": "MONDO:0006766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gait apraxia", "equivalent_identifiers": ["MONDO:0006766", "DOID:4260", "EFO:1000944", "UMLS:C0751838", "UMLS:C1510417", "MESH:D020235", "MEDDRA:10070635", "SNOMEDCT:30767006", "medgen:266930", "HP:0010521"], "information_content": 100.0}
{"id": "MONDO:0005559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegenerative disease", "equivalent_identifiers": ["MONDO:0005559", "DOID:1289", "EFO:0005772", "UMLS:C0027746", "UMLS:C0270715", "UMLS:C0524851", "UMLS:C1285162", "UMLS:C4020854", "MESH:D009410", "MESH:D019636", "MEDDRA:10053643", "MEDDRA:10056677", "NCIT:C195952", "NCIT:C27090", "NCIT:C4802", "SNOMEDCT:362975008", "SNOMEDCT:80690008", "medgen:17999", "ICD10:G31.9", "HP:0002180"], "information_content": 54.9}
{"id": "HP:0007289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb fasciculations", "equivalent_identifiers": ["HP:0007289", "UMLS:C1854657"], "information_content": 100.0}
{"id": "HP:0000651", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diplopia", "equivalent_identifiers": ["HP:0000651", "NCIT:C37941", "UMLS:C0012569", "MEDDRA:10013036", "MEDDRA:10013614", "MEDDRA:10047519", "SNOMEDCT:24982008", "MESH:D004172"], "information_content": 92.8}
{"id": "HP:0002871", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central apnea", "equivalent_identifiers": ["HP:0002871", "NCIT:C116335", "UMLS:C3887548"], "information_content": 100.0}
{"id": "HP:0000764", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral axonal degeneration", "equivalent_identifiers": ["HP:0000764", "UMLS:C4025830"], "information_content": 84.2}
{"id": "HP:0100543", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cognitive impairment", "equivalent_identifiers": ["HP:0100543", "NCIT:C116921", "NCIT:C27101", "NCIT:C46083", "UMLS:C0338656", "UMLS:C0683322", "MEDDRA:10009845", "MEDDRA:10009846", "MEDDRA:10048599", "SNOMEDCT:386806002", "MESH:D060825"], "information_content": 60.5}
{"id": "HP:0034332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cognitive regression", "equivalent_identifiers": ["HP:0034332", "UMLS:C3808761"], "information_content": 100.0}
{"id": "HP:0000745", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal diminished volition", "equivalent_identifiers": ["HP:0000745", "UMLS:C0456814", "MEDDRA:10023614", "SNOMEDCT:277521002"], "information_content": 82.6}
{"id": "MONDO:0014285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia type type 1B", "equivalent_identifiers": ["MONDO:0014285", "DOID:0111397", "OMIM:615631", "UMLS:C3810185", "medgen:816515"], "information_content": 100.0}
{"id": "HP:0010972", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anemia of inadequate production", "equivalent_identifiers": ["HP:0010972", "UMLS:C0392708", "UMLS:C0678199", "SNOMEDCT:70730006"], "information_content": 76.4}
{"id": "HP:0011273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anisocytosis", "equivalent_identifiers": ["HP:0011273", "NCIT:C35266", "UMLS:C0221278", "MEDDRA:10002536", "SNOMEDCT:165475005", "SNOMEDCT:57241006"], "information_content": 87.2}
{"id": "HP:0012132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythroid hyperplasia", "equivalent_identifiers": ["HP:0012132", "NCIT:C34592", "UMLS:C0014800", "UMLS:C1838111", "UMLS:C3552917", "MEDDRA:10020724"], "information_content": 88.2}
{"id": "HP:0034278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multinucleated erythroblast", "equivalent_identifiers": ["HP:0034278", "UMLS:C2749670", "UMLS:C5826371", "UMLS:C5826372"], "information_content": 100.0}
{"id": "MONDO:0014874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 2F", "equivalent_identifiers": ["MONDO:0014874", "DOID:0112329", "OMIM:617026", "UMLS:C4310757", "medgen:934724"], "information_content": 100.0}
{"id": "HP:0034353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Appendicular spasticity", "equivalent_identifiers": ["HP:0034353", "UMLS:C4313257"], "information_content": 82.6}
{"id": "MONDO:0011971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome type 5", "equivalent_identifiers": ["MONDO:0011971", "DOID:0060759", "OMIM:608106", "orphanet:101092", "UMLS:C1720958", "SNOMEDCT:1351569004", "medgen:328420"], "information_content": 100.0}
{"id": "HP:0200117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent upper and lower respiratory tract infections", "equivalent_identifiers": ["HP:0200117", "UMLS:C1842777"], "information_content": 100.0}
{"id": "MONDO:0016489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "delta-beta-thalassemia", "equivalent_identifiers": ["MONDO:0016489", "DOID:0080773", "OMIM:141749", "orphanet:231237", "UMLS:C0271985", "UMLS:C1841621", "MESH:C562716", "MEDDRA:10012236", "MEDDRA:10054370", "NCIT:C172823", "SNOMEDCT:16360009", "medgen:78790"], "information_content": 100.0}
{"id": "MONDO:0971043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities", "equivalent_identifiers": ["MONDO:0971043", "OMIM:620852", "UMLS:C5935629", "medgen:1857550"], "information_content": 100.0}
{"id": "MONDO:0024361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "circadian rhythm sleep disorder", "equivalent_identifiers": ["MONDO:0024361", "UMLS:C0813142", "UMLS:C0877792", "UMLS:C1833362", "MESH:D020178", "MEDDRA:10009191", "MEDDRA:10041013", "NCIT:C95071", "SNOMEDCT:271794005", "medgen:167920", "HP:0006979"], "information_content": 80.2}
{"id": "HP:0031510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear earlobe crease", "equivalent_identifiers": ["HP:0031510", "UMLS:C4531075"], "information_content": 100.0}
{"id": "HP:0011237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad inferior crus of antihelix", "equivalent_identifiers": ["HP:0011237", "UMLS:C4021196"], "information_content": 100.0}
{"id": "HP:0040080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anteverted ears", "equivalent_identifiers": ["HP:0040080", "UMLS:C1857055"], "information_content": 100.0}
{"id": "MONDO:0012216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome", "equivalent_identifiers": ["MONDO:0012216", "DOID:0070531", "OMIM:609218", "orphanet:397618", "UMLS:C1836603", "UMLS:C3807873", "UMLS:C5190596", "MESH:C563774", "SNOMEDCT:782754006", "medgen:814203"], "information_content": 100.0}
{"id": "HP:0025551", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic nerve misrouting", "equivalent_identifiers": ["HP:0025551", "UMLS:C4531296"], "information_content": 100.0}
{"id": "MONDO:0020368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axenfeld anomaly", "equivalent_identifiers": ["MONDO:0020368", "orphanet:98978", "UMLS:C0266548", "MEDDRA:10058653", "SNOMEDCT:204152008", "medgen:78611", "icd11.foundation:1703498511", "HP:0001492"], "information_content": 100.0}
{"id": "HP:0008001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foveal hyperpigmentation", "equivalent_identifiers": ["HP:0008001", "UMLS:C3809301"], "information_content": 100.0}
{"id": "MONDO:0004913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating esotropia", "equivalent_identifiers": ["MONDO:0004913", "DOID:9888", "UMLS:C0152205", "MEDDRA:10001855", "SNOMEDCT:39837002", "medgen:57515", "icd11.foundation:935468618", "ICD10:H50.05", "ICD9:378.05", "HP:0001137"], "information_content": 100.0}
{"id": "MONDO:0008966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aagenaes syndrome", "equivalent_identifiers": ["MONDO:0008966", "DOID:6691", "OMIM:214900", "orphanet:1414", "UMLS:C0268314", "MESH:C535330", "NCIT:C35709", "SNOMEDCT:28724005", "medgen:78658"], "information_content": 100.0}
{"id": "MONDO:0001266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erysipelas", "equivalent_identifiers": ["MONDO:0001266", "DOID:11330", "EFO:1001462", "UMLS:C0014714", "UMLS:C0014733", "MESH:D004886", "MEDDRA:10015124", "MEDDRA:10015125", "MEDDRA:10015145", "SNOMEDCT:44653001", "medgen:41855", "icd11.foundation:1651247891", "ICD10:A46", "ICD9:035", "HP:0001055"], "information_content": 100.0}
{"id": "HP:0006566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal cholestatic liver disease", "equivalent_identifiers": ["HP:0006566", "UMLS:C1859162"], "information_content": 100.0}
{"id": "MONDO:0009896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymyoclonus, infantile", "equivalent_identifiers": ["MONDO:0009896", "OMIM:263550", "UMLS:C1849731", "MESH:C535524", "medgen:376647"], "information_content": 100.0}
{"id": "HP:0007295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chaotic rapid conjugate ocular movements", "equivalent_identifiers": ["HP:0007295", "UMLS:C4024909"], "information_content": 100.0}
{"id": "OMIM:615619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO", "equivalent_identifiers": ["OMIM:615619", "UMLS:C3810156"]}
{"id": "MONDO:0019087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholangiocarcinoma", "equivalent_identifiers": ["MONDO:0019087", "DOID:4947", "orphanet:70567", "EFO:0005221", "UMLS:C0206698", "UMLS:C0280725", "MESH:D018281", "MEDDRA:10008593", "MEDDRA:10008595", "MEDDRA:10077861", "NCIT:C4436", "NCIT:C8265", "SNOMEDCT:312104005", "SNOMEDCT:70179006", "medgen:60210", "icd11.foundation:2110597275", "HP:0030153"], "information_content": 70.3}
{"id": "MONDO:0009957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reese retinal dysplasia", "equivalent_identifiers": ["MONDO:0009957", "OMIM:266400", "UMLS:C1849450", "MESH:C564854", "medgen:341456"], "information_content": 100.0}
{"id": "MONDO:0019631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent hyperplastic primary vitreous", "equivalent_identifiers": ["MONDO:0019631", "DOID:0060282", "OMIM.PS:221900", "orphanet:91495", "UMLS:C0266568", "MESH:D054514", "MEDDRA:10091189", "NCIT:C161554", "SNOMEDCT:314270008", "SNOMEDCT:44647001", "SNOMEDCT:69927002", "medgen:120583", "icd11.foundation:1011137326", "HP:0007968"], "information_content": 89.4}
{"id": "MONDO:0013204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, Fuchs endothelial, 4", "equivalent_identifiers": ["MONDO:0013204", "OMIM:613268", "UMLS:C2750450", "MESH:C567677", "medgen:413309"], "information_content": 100.0}
{"id": "HP:0012038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal guttata", "equivalent_identifiers": ["HP:0012038", "UMLS:C0271288", "MEDDRA:10065943", "SNOMEDCT:373424008"], "information_content": 100.0}
{"id": "MONDO:0013789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DDOST-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013789", "DOID:0080569", "OMIM:614507", "orphanet:300536", "UMLS:C3281084", "SNOMEDCT:733083006", "medgen:482714"], "information_content": 100.0}
{"id": "HP:0003642", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type I transferrin isoform profile", "equivalent_identifiers": ["HP:0003642", "UMLS:C1837899"], "information_content": 100.0}
{"id": "HP:0410018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent ear infections", "equivalent_identifiers": ["HP:0410018", "UMLS:C0743360"], "information_content": 100.0}
{"id": "MONDO:0030679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 14", "equivalent_identifiers": ["MONDO:0030679", "OMIM:619745", "UMLS:C5676916", "medgen:1807988"], "information_content": 100.0}
{"id": "HP:0008081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pes valgus", "equivalent_identifiers": ["HP:0008081", "UMLS:C1578482", "UMLS:C5201121", "MEDDRA:10080135", "SNOMEDCT:249803006", "SNOMEDCT:275344002"], "information_content": 100.0}
{"id": "HP:0007678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacrimal duct stenosis", "equivalent_identifiers": ["HP:0007678", "UMLS:C0238300", "SNOMEDCT:231841004"], "information_content": 100.0}
{"id": "MONDO:0054701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome 2", "inheritance": "Autosomal dominant germline de novo mutation", "equivalent_identifiers": ["MONDO:0054701", "DOID:0080598", "OMIM:617768", "UMLS:C4540395", "medgen:1623903"], "information_content": 100.0}
{"id": "MONDO:0013659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-capillary malformation syndrome", "equivalent_identifiers": ["MONDO:0013659", "OMIM:614261", "orphanet:294016", "UMLS:C3280296", "NCIT:C192098", "SNOMEDCT:703369003", "medgen:481926"], "information_content": 100.0}
{"id": "HP:0010721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hair whorl", "equivalent_identifiers": ["HP:0010721", "UMLS:C3280303"], "information_content": 90.9}
{"id": "HP:0025517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic hippocampus", "equivalent_identifiers": ["HP:0025517", "UMLS:C4476822"], "information_content": 100.0}
{"id": "HP:0001667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right ventricular hypertrophy", "equivalent_identifiers": ["HP:0001667", "NCIT:C50734", "UMLS:C0162770", "MEDDRA:10039341", "MEDDRA:10050326", "MEDDRA:10050582", "SNOMEDCT:89792004", "MESH:D017380"], "information_content": 86.3}
{"id": "MONDO:0007445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatopathia pigmentosa reticularis", "equivalent_identifiers": ["MONDO:0007445", "DOID:0111342", "OMIM:125595", "orphanet:86920", "UMLS:C0406778", "MESH:C535374", "SNOMEDCT:239088003", "medgen:98037"], "information_content": 100.0}
{"id": "HP:0000502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal conjunctiva morphology", "equivalent_identifiers": ["HP:0000502", "UMLS:C4025847"], "information_content": 74.6}
{"id": "MONDO:0007619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adermatoglyphia", "equivalent_identifiers": ["MONDO:0007619", "DOID:0111357", "OMIM:136000", "orphanet:289465", "UMLS:C1852150", "UMLS:C4706567", "MESH:C565010", "MEDDRA:10076974", "SNOMEDCT:763748007", "medgen:338875", "HP:0007455"], "information_content": 100.0}
{"id": "HP:0007588", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticular hyperpigmentation", "equivalent_identifiers": ["HP:0007588", "UMLS:C1851972"], "information_content": 100.0}
{"id": "HP:0012788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticulate pigmentation of oral mucosa", "equivalent_identifiers": ["HP:0012788", "UMLS:C1852148"], "information_content": 100.0}
{"id": "MONDO:0030756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stuve-Wiedemann syndrome 2", "equivalent_identifiers": ["MONDO:0030756", "OMIM:619751", "UMLS:C5676919", "medgen:1805977"], "information_content": 100.0}
{"id": "MONDO:0001243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disseminated intravascular coagulation", "equivalent_identifiers": ["MONDO:0001243", "DOID:11247", "UMLS:C0012739", "MESH:D004211", "MEDDRA:10010785", "MEDDRA:10010786", "MEDDRA:10012126", "MEDDRA:10012769", "MEDDRA:10013442", "NCIT:C131658", "NCIT:C2992", "SNOMEDCT:67406007", "medgen:41620", "icd11.foundation:1622289887", "ICD9:286.6", "HP:0005521"], "information_content": 80.6}
{"id": "MONDO:0014651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis Cincinnati type", "equivalent_identifiers": ["MONDO:0014651", "DOID:0060353", "OMIM:616462", "UMLS:C4225317", "medgen:903483"], "information_content": 100.0}
{"id": "HP:0008807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip Dysplasia", "equivalent_identifiers": ["HP:0008807", "UMLS:C1328407", "MEDDRA:10000396", "MEDDRA:10063175"], "information_content": 100.0}
{"id": "HP:0034260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplastic zygomatic arch", "equivalent_identifiers": ["HP:0034260", "UMLS:C5676837"], "information_content": 100.0}
{"id": "HP:0034392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joint contracture", "equivalent_identifiers": ["HP:0034392"], "information_content": 68.8}
{"id": "MONDO:0005085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pterygium", "equivalent_identifiers": ["MONDO:0005085", "DOID:0002116", "EFO:0000678", "UMLS:C0033999", "MESH:D011625", "NCIT:C133744", "SNOMEDCT:77489003", "medgen:46202", "icd11.foundation:1207385905", "HP:0001059"], "information_content": 87.2}
{"id": "HP:0002786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tracheobronchomalacia", "equivalent_identifiers": ["HP:0002786", "NCIT:C85195", "UMLS:C0340231", "SNOMEDCT:233788001", "MESH:D055089"], "information_content": 92.8}
{"id": "HP:0011639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of right coronary artery from the pulmonary artery", "equivalent_identifiers": ["HP:0011639", "UMLS:C3472165", "SNOMEDCT:450300002"], "information_content": 100.0}
{"id": "HP:0004937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary artery aneurysm", "equivalent_identifiers": ["HP:0004937", "NCIT:C197837", "UMLS:C0155676", "MEDDRA:10002356", "MEDDRA:10037336", "SNOMEDCT:194892009"], "information_content": 100.0}
{"id": "HP:0004415", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary artery stenosis", "equivalent_identifiers": ["HP:0004415", "NCIT:C99030", "UMLS:C0238397", "MEDDRA:10037338", "SNOMEDCT:95441000", "MESH:D000071079"], "information_content": 90.9}
{"id": "HP:0012712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild hearing impairment", "equivalent_identifiers": ["HP:0012712", "UMLS:C4022758"], "information_content": 89.4}
{"id": "HP:0011224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ablepharon", "equivalent_identifiers": ["HP:0011224", "NCIT:C124567", "UMLS:C0266574", "UMLS:C4020757", "SNOMEDCT:13401001", "SNOMEDCT:708541009"], "information_content": 100.0}
{"id": "HP:0040064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysmelia", "equivalent_identifiers": ["HP:0040064", "UMLS:C0239337", "UMLS:C4073131", "MEDDRA:10012139", "MEDDRA:10024495", "MEDDRA:10053652", "MEDDRA:10091090", "SNOMEDCT:445144002"], "information_content": 45.6}
{"id": "HP:0034185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Median pseudocleft lip", "equivalent_identifiers": ["HP:0034185", "UMLS:C5563603"], "information_content": 100.0}
{"id": "HP:0001800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic toenails", "equivalent_identifiers": ["HP:0001800", "UMLS:C1837279"], "information_content": 95.4}
{"id": "HP:0410263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brain imaging abnormality", "equivalent_identifiers": ["HP:0410263", "UMLS:C2711610", "SNOMEDCT:442731005"], "information_content": 76.7}
{"id": "HP:0011443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of coordination", "equivalent_identifiers": ["HP:0011443", "UMLS:C4023353"], "information_content": 63.3}
{"id": "HP:0030307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared lower limb metaphysis", "equivalent_identifiers": ["HP:0030307", "UMLS:C4022520"], "information_content": 89.4}
{"id": "HP:0011569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft anterior mitral valve leaflet", "equivalent_identifiers": ["HP:0011569", "UMLS:C4023295"], "information_content": 100.0}
{"id": "HP:0002835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aspiration", "equivalent_identifiers": ["HP:0002835", "EFO:1001839", "NCIT:C83507", "UMLS:C0700198", "UMLS:C1720922", "UMLS:C2712334", "UMLS:C2827071", "MEDDRA:10003504", "MEDDRA:10087444", "SNOMEDCT:413585005", "SNOMEDCT:68052005", "MESH:D053120"], "information_content": 92.8}
{"id": "MONDO:0006726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphragmatic eventration", "equivalent_identifiers": ["MONDO:0006726", "DOID:10480", "EFO:1000898", "UMLS:C0011981", "MESH:D003965", "NCIT:C98912", "SNOMEDCT:34168003", "medgen:8359", "ICD10:Q79.1", "HP:0009110"], "information_content": 100.0}
{"id": "MONDO:0015313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choanal atresia, bilateral", "equivalent_identifiers": ["MONDO:0015313", "orphanet:137920", "UMLS:C4025317", "SNOMEDCT:890382007", "medgen:870857", "icd11.foundation:1138913171", "HP:0004502"], "information_content": 95.4}
{"id": "MONDO:0007894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leri pleonosteosis", "equivalent_identifiers": ["MONDO:0007894", "OMIM:151200", "orphanet:2900", "UMLS:C1835450", "MESH:C537118", "medgen:331978"], "information_content": 100.0}
{"id": "HP:0001230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad metacarpals", "equivalent_identifiers": ["HP:0001230", "UMLS:C1842229"], "information_content": 95.4}
{"id": "HP:0001220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interphalangeal joint contracture of finger", "equivalent_identifiers": ["HP:0001220", "UMLS:C4021784"], "information_content": 81.7}
{"id": "HP:0007311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short stepped shuffling gait", "equivalent_identifiers": ["HP:0007311", "UMLS:C3805715"], "information_content": 100.0}
{"id": "HP:0006247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged interphalangeal joints", "equivalent_identifiers": ["HP:0006247", "UMLS:C1859701"], "information_content": 90.9}
{"id": "MONDO:0009719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial atrial myxoma", "equivalent_identifiers": ["MONDO:0009719", "OMIM:255960", "orphanet:615", "UMLS:C1850635", "UMLS:C2931787", "MESH:C538262", "SNOMEDCT:233855002", "medgen:419902", "icd11.foundation:1491085859"], "information_content": 100.0}
{"id": "HP:0006691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonic valve myxoma", "equivalent_identifiers": ["HP:0006691", "UMLS:C4025002"], "information_content": 100.0}
{"id": "HP:0011672", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiac myxoma", "equivalent_identifiers": ["HP:0011672", "UMLS:C1960546", "SNOMEDCT:426191007"], "information_content": 100.0}
{"id": "MONDO:0006669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bacterial endocarditis", "equivalent_identifiers": ["MONDO:0006669", "EFO:1000830", "UMLS:C0014121", "MESH:D004697", "MEDDRA:10004019", "MEDDRA:10014666", "MEDDRA:10014668", "MEDDRA:10014678", "NCIT:C128359", "SNOMEDCT:301183007", "medgen:41779", "icd11.foundation:1924438986", "HP:0006689"], "information_content": 88.2}
{"id": "MONDO:0859272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with speech delay and variable ocular anomalies", "equivalent_identifiers": ["MONDO:0859272", "OMIM:619989", "UMLS:C5774194", "medgen:1823967"], "information_content": 100.0}
{"id": "MONDO:0032679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 37", "equivalent_identifiers": ["MONDO:0032679", "DOID:0111499", "OMIM:618329", "UMLS:C5193031", "medgen:1675208"], "information_content": 100.0}
{"id": "HP:0001408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bile duct proliferation", "equivalent_identifiers": ["HP:0001408", "UMLS:C0267818", "SNOMEDCT:20239009"], "information_content": 100.0}
{"id": "HP:0001403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrovesicular hepatic steatosis", "equivalent_identifiers": ["HP:0001403", "NCIT:C82990", "UMLS:C1837256"], "information_content": 90.9}
{"id": "HP:0040031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal hyperpigmentation", "equivalent_identifiers": ["HP:0040031", "UMLS:C4022482"], "information_content": 100.0}
{"id": "HP:0032988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Head lag", "equivalent_identifiers": ["HP:0032988", "UMLS:C1141883", "MEDDRA:10057870", "SNOMEDCT:390789009"], "information_content": 100.0}
{"id": "MONDO:0100344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease type 1", "equivalent_identifiers": ["MONDO:0100344", "DOID:0110142", "OMIM:601678", "orphanet:620217", "UMLS:C1866495", "MESH:C537652", "NCIT:C178412", "SNOMEDCT:700107006", "medgen:355727", "ICD10:E26.8"], "information_content": 100.0}
{"id": "HP:0003158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyposthenuria", "equivalent_identifiers": ["HP:0003158", "UMLS:C0232831", "MEDDRA:10021096", "MEDDRA:10038421", "SNOMEDCT:76023003"], "information_content": 100.0}
{"id": "HP:0003113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypochloremia", "equivalent_identifiers": ["HP:0003113", "UMLS:C0085680", "UMLS:C0595901", "MEDDRA:10020955", "MEDDRA:10020957", "MEDDRA:10040185", "SNOMEDCT:10399008"], "information_content": 100.0}
{"id": "MONDO:0001566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercalcemia", "equivalent_identifiers": ["MONDO:0001566", "DOID:12678", "UMLS:C0020437", "UMLS:C5700155", "UMLS:C5769292", "MESH:D006934", "MEDDRA:10005396", "MEDDRA:10006952", "MEDDRA:10020583", "MEDDRA:10020587", "NCIT:C3112", "SNOMEDCT:166702002", "SNOMEDCT:66931009", "medgen:5686", "ICD10:E83.52", "ICD9:275.42", "HP:0003072"], "information_content": 80.2}
{"id": "HP:0002914", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperchloriduria", "equivalent_identifiers": ["HP:0002914", "UMLS:C1846352"], "information_content": 95.4}
{"id": "HP:0003527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperprostaglandinuria", "equivalent_identifiers": ["HP:0003527", "UMLS:C1866498"], "information_content": 90.9}
{"id": "HP:0002632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-to-normal blood pressure", "equivalent_identifiers": ["HP:0002632", "UMLS:C1866500"], "information_content": 100.0}
{"id": "HP:0003566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum prostaglandin E2", "equivalent_identifiers": ["HP:0003566", "UMLS:C3150358"], "information_content": 100.0}
{"id": "HP:0001960", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypokalemic metabolic alkalosis", "equivalent_identifiers": ["HP:0001960", "UMLS:C0740898"], "information_content": 95.4}
{"id": "HP:0000111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal juxtaglomerular cell hypertrophy/hyperplasia", "equivalent_identifiers": ["HP:0000111", "UMLS:C1866496"], "information_content": 100.0}
{"id": "HP:0001563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal polyuria", "equivalent_identifiers": ["HP:0001563", "UMLS:C1865279"], "information_content": 100.0}
{"id": "HP:0003081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary potassium", "equivalent_identifiers": ["HP:0003081", "UMLS:C1846351"], "information_content": 95.4}
{"id": "MONDO:0001741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperparathyroidism", "equivalent_identifiers": ["MONDO:0001741", "DOID:13543", "EFO:0008506", "UMLS:C0020502", "MESH:D006961", "MEDDRA:10020705", "MEDDRA:10020706", "NCIT:C48259", "SNOMEDCT:66999008", "medgen:6967", "icd11.foundation:9633776", "ICD10:E21.3", "ICD9:252.0", "HP:0000843"], "information_content": 79.3}
{"id": "HP:0000841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperactive renin-angiotensin system", "equivalent_identifiers": ["HP:0000841", "UMLS:C1846345", "UMLS:C3150267"], "information_content": 100.0}
{"id": "MONDO:0007319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrocalcinosis 2", "equivalent_identifiers": ["MONDO:0007319", "OMIM:118600", "orphanet:1416", "UMLS:C0856830", "MESH:C563162", "MEDDRA:10006977", "MEDDRA:10067429", "medgen:163633"], "information_content": 100.0}
{"id": "HP:0005017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyarticular chondrocalcinosis", "equivalent_identifiers": ["HP:0005017", "UMLS:C4025258"], "information_content": 100.0}
{"id": "MONDO:0014578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 17", "equivalent_identifiers": ["MONDO:0014578", "DOID:0110674", "OMIM:616304", "UMLS:C4225377", "medgen:895078"], "information_content": 100.0}
{"id": "MONDO:0007965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanoma, malignant familial intraocular", "equivalent_identifiers": ["MONDO:0007965", "OMIM:155700", "UMLS:C1835043", "MESH:C563596", "medgen:322559"], "information_content": 100.0}
{"id": "MONDO:0006486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveal melanoma", "equivalent_identifiers": ["MONDO:0006486", "DOID:6039", "OMIM:155720", "orphanet:39044", "EFO:1000616", "UMLS:C0220633", "MESH:C536494", "MESH:D000098943", "MEDDRA:10022797", "MEDDRA:10061252", "MEDDRA:10081431", "NCIT:C7712", "medgen:65077", "HP:0007716"], "information_content": 71.9}
{"id": "MONDO:0010024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beemer-Langer syndrome", "equivalent_identifiers": ["MONDO:0010024", "DOID:9249", "OMIM:269860", "orphanet:93268", "UMLS:C0432198", "MESH:C537599", "SNOMEDCT:254052001", "medgen:96578"], "information_content": 100.0}
{"id": "HP:0000882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic scapulae", "equivalent_identifiers": ["HP:0000882", "UMLS:C1846434"], "information_content": 90.9}
{"id": "HP:0000161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Median cleft upper lip", "equivalent_identifiers": ["HP:0000161", "UMLS:C1850256"], "information_content": 92.8}
{"id": "MONDO:0008532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Natal Teeth", "equivalent_identifiers": ["MONDO:0008532", "OMIM:187050", "UMLS:C0027443", "MESH:D009306", "MEDDRA:10064164", "SNOMEDCT:1162501001", "SNOMEDCT:21995002", "SNOMEDCT:58748004", "medgen:10268", "HP:0000695"], "information_content": 100.0}
{"id": "HP:0011802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hamartoma of tongue", "equivalent_identifiers": ["HP:0011802", "UMLS:C0431565", "SNOMEDCT:253753005"], "information_content": 100.0}
{"id": "HP:0009099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Median cleft palate", "equivalent_identifiers": ["HP:0009099", "UMLS:C1850968"], "information_content": 100.0}
{"id": "MONDO:0019015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omphalocele", "equivalent_identifiers": ["MONDO:0019015", "DOID:0060327", "orphanet:660", "UMLS:C0795690", "MEDDRA:10030308", "MEDDRA:10030309", "NCIT:C98997", "SNOMEDCT:18735004", "medgen:162756", "icd11.foundation:1168696429", "HP:0001539"], "information_content": 92.8}
{"id": "MONDO:0000819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anencephaly", "equivalent_identifiers": ["MONDO:0000819", "DOID:0060668", "OMIM.PS:206500", "UMLS:C0002902", "MESH:D000757", "MEDDRA:10002317", "MEDDRA:10002318", "MEDDRA:10002320", "NCIT:C84560", "SNOMEDCT:609417004", "SNOMEDCT:89369001", "medgen:8068", "icd11.foundation:1292761836", "ICD10:Q00.0", "HP:0002323"], "information_content": 88.2}
{"id": "HP:0006488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowing of the arm", "equivalent_identifiers": ["HP:0006488", "UMLS:C0426863"], "information_content": 76.9}
{"id": "HP:0040133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating ferritin concentration", "equivalent_identifiers": ["HP:0040133", "UMLS:C0853228", "MEDDRA:10040247", "MEDDRA:10040248"], "information_content": 92.8}
{"id": "HP:0040130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating iron concentration", "equivalent_identifiers": ["HP:0040130", "UMLS:C0235760", "MEDDRA:10040245", "MEDDRA:10040308"], "information_content": 92.8}
{"id": "HP:0031877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating hepcidin concentration", "equivalent_identifiers": ["HP:0031877", "UMLS:C4703592"], "information_content": 100.0}
{"id": "MONDO:0007350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma, ocular, autosomal dominant", "equivalent_identifiers": ["MONDO:0007350", "OMIM:120200", "UMLS:C4554007", "UMLS:C5886785", "medgen:1859952"], "information_content": 92.8}
{"id": "HP:0012521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic nerve aplasia", "equivalent_identifiers": ["HP:0012521", "UMLS:C4021084", "SNOMEDCT:722989007"], "information_content": 100.0}
{"id": "MONDO:0018169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "morning glory syndrome", "equivalent_identifiers": ["MONDO:0018169", "orphanet:35737", "UMLS:C3554721", "MEDDRA:10027974", "medgen:767635", "HP:0025514"], "information_content": 100.0}
{"id": "MONDO:0012565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group N", "equivalent_identifiers": ["MONDO:0012565", "DOID:0111094", "OMIM:610832", "UMLS:C1835817", "MESH:C563657", "NCIT:C176894", "medgen:372133"], "information_content": 92.8}
{"id": "HP:0003221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chromosomal breakage induced by crosslinking agents", "equivalent_identifiers": ["HP:0003221", "UMLS:C4021737"], "information_content": 100.0}
{"id": "MONDO:0015909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aplastic anemia", "equivalent_identifiers": ["MONDO:0015909", "DOID:12449", "orphanet:182040", "UMLS:C0002874", "MESH:D000741", "MEDDRA:10002037", "MEDDRA:10002274", "MEDDRA:10002967", "MEDDRA:10002968", "MEDDRA:10002969", "MEDDRA:10002970", "NCIT:C2870", "SNOMEDCT:304132006", "SNOMEDCT:306058006", "medgen:8063", "ICD10:D61.9", "ICD9:284.9", "HP:0001915"], "information_content": 72.4}
{"id": "MONDO:0019004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephroblastoma", "equivalent_identifiers": ["MONDO:0019004", "DOID:2154", "DOID:5176", "orphanet:654", "UMLS:C0027708", "MEDDRA:10029145", "MEDDRA:10047985", "MEDDRA:10047986", "MEDDRA:10047987", "NCIT:C40407", "SNOMEDCT:25081006", "SNOMEDCT:302849000", "HP:0002667"], "information_content": 78.5}
{"id": "HP:0000125", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelvic kidney", "equivalent_identifiers": ["HP:0000125", "NCIT:C99006", "UMLS:C0221209", "MEDDRA:10034259", "SNOMEDCT:56108007"], "information_content": 100.0}
{"id": "MONDO:0007959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medulloblastoma", "equivalent_identifiers": ["MONDO:0007959", "DOID:0050902", "DOID:0060104", "OMIM:155255", "orphanet:616", "EFO:0002939", "UMLS:C0025149", "UMLS:C1334410", "UMLS:C5774316", "MESH:D008527", "MEDDRA:10027107", "NCIT:C27294", "NCIT:C3222", "SNOMEDCT:1156923005", "SNOMEDCT:443333004", "SNOMEDCT:83217000", "medgen:7517", "icd11.foundation:290815825", "HP:0002885"], "information_content": 70.8}
{"id": "MONDO:0008218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hailey-Hailey disease", "equivalent_identifiers": ["MONDO:0008218", "DOID:0050429", "DOID:2732", "OMIM:169600", "OMIM:268400", "OMIM:618625", "orphanet:2841", "UMLS:C0032339", "UMLS:C0085106", "UMLS:C5203410", "UMLS:C5231433", "MESH:D011038", "MESH:D016506", "MEDDRA:10004264", "MEDDRA:10004265", "MEDDRA:10016203", "MEDDRA:10019029", "MEDDRA:10052465", "MEDDRA:10052510", "NCIT:C178826", "NCIT:C178827", "NCIT:C3335", "NCIT:C82865", "SNOMEDCT:1003922004", "SNOMEDCT:1003923009", "SNOMEDCT:69093006", "SNOMEDCT:79468000", "medgen:43100", "icd11.foundation:818400628", "ICD10:Q82.8"], "information_content": 89.4}
{"id": "MONDO:0030768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 5A, intermediate", "equivalent_identifiers": ["MONDO:0030768", "OMIM:619816", "UMLS:C5676956", "medgen:1811851"], "information_content": 100.0}
{"id": "HP:0002221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent axillary hair", "equivalent_identifiers": ["HP:0002221", "UMLS:C1859392"], "information_content": 100.0}
{"id": "MONDO:0002127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethral stricture", "equivalent_identifiers": ["MONDO:0002127", "DOID:1829", "UMLS:C0029752", "UMLS:C0041974", "UMLS:C4551691", "MESH:D014525", "MEDDRA:10046466", "MEDDRA:10046474", "MEDDRA:10065584", "NCIT:C79821", "SNOMEDCT:236647003", "SNOMEDCT:76618002", "medgen:1641821", "icd11.foundation:611219038", "ICD9:598.8", "HP:0008661"], "information_content": 87.2}
{"id": "HP:0008400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onycholysis of distal fingernails", "equivalent_identifiers": ["HP:0008400", "UMLS:C4024680"], "information_content": 100.0}
{"id": "HP:0006357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature loss of permanent teeth", "equivalent_identifiers": ["HP:0006357", "UMLS:C1969738"], "information_content": 100.0}
{"id": "HP:0002555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent pubic hair", "equivalent_identifiers": ["HP:0002555", "UMLS:C1859391"], "information_content": 100.0}
{"id": "HP:0034193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stratum basale cleavage", "equivalent_identifiers": ["HP:0034193", "UMLS:C2748755"], "information_content": 100.0}
{"id": "MONDO:0013279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 13", "equivalent_identifiers": ["MONDO:0013279", "DOID:0110654", "OMIM:613485", "UMLS:C3150733", "medgen:462083"], "information_content": 100.0}
{"id": "HP:0004754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Permanent atrial fibrillation", "equivalent_identifiers": ["HP:0004754", "NCIT:C80392", "UMLS:C0694539", "UMLS:C2586056", "MEDDRA:10066551", "MEDDRA:10071668", "SNOMEDCT:426749004", "SNOMEDCT:440028005"], "information_content": 100.0}
{"id": "MONDO:0000745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac arrest", "equivalent_identifiers": ["MONDO:0000745", "DOID:0060319", "EFO:0009492", "UMLS:C0018790", "UMLS:C0444720", "MESH:D006323", "MEDDRA:10003109", "MEDDRA:10003586", "MEDDRA:10003587", "MEDDRA:10003589", "MEDDRA:10007515", "MEDDRA:10019249", "MEDDRA:10041914", "MEDDRA:10047284", "MEDDRA:10047285", "MEDDRA:10082515", "NCIT:C50479", "SNOMEDCT:261195002", "SNOMEDCT:397829000", "SNOMEDCT:410429000", "medgen:5456", "icd11.foundation:395422191", "ICD10:I46", "ICD9:427.5", "HP:0001695"], "information_content": 85.5}
{"id": "HP:0005184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged QTc interval", "equivalent_identifiers": ["HP:0005184", "UMLS:C1560305"], "information_content": 100.0}
{"id": "MONDO:0005478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsades de pointes", "equivalent_identifiers": ["MONDO:0005478", "EFO:0005307", "UMLS:C0040479", "MESH:D016171", "MEDDRA:10044066", "MEDDRA:10044067", "MEDDRA:10053604", "NCIT:C50779", "SNOMEDCT:31722008", "medgen:21214", "HP:0001664"], "information_content": 78.0}
{"id": "MONDO:0000465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrioventricular block", "equivalent_identifiers": ["MONDO:0000465", "DOID:0050820", "UMLS:C0004245", "UMLS:C1841659", "MESH:D054537", "MEDDRA:10003671", "MEDDRA:10003672", "MEDDRA:10003676", "MEDDRA:10003680", "MEDDRA:10003846", "MEDDRA:10003847", "MEDDRA:10019254", "MEDDRA:10019255", "NCIT:C26703", "SNOMEDCT:233917008", "medgen:13956", "ICD10:I44.3", "ICD9:426.10", "HP:0001678"], "information_content": 84.2}
{"id": "MONDO:0005279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary embolism", "equivalent_identifiers": ["MONDO:0005279", "DOID:9477", "EFO:0003827", "UMLS:C0034065", "MESH:D011655", "MEDDRA:10014521", "MEDDRA:10014537", "MEDDRA:10037377", "MEDDRA:10037380", "MEDDRA:10050071", "MEDDRA:10082134", "MEDDRA:10088860", "NCIT:C50713", "SNOMEDCT:59282003", "medgen:11027", "ICD10:I26", "HP:0002204"], "information_content": 87.2}
{"id": "MONDO:0013052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 42", "equivalent_identifiers": ["MONDO:0013052", "DOID:0110386", "OMIM:612943", "UMLS:C2751986", "MESH:C567854", "medgen:442864"], "information_content": 100.0}
{"id": "HP:0500087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripapillary atrophy", "equivalent_identifiers": ["HP:0500087", "UMLS:C1719838", "MEDDRA:10068360", "SNOMEDCT:420535003"], "information_content": 100.0}
{"id": "HP:0030629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perifoveal ring of hyperautofluorescence", "equivalent_identifiers": ["HP:0030629", "UMLS:C4073099"], "information_content": 92.8}
{"id": "MONDO:0007935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystoid macular edema", "equivalent_identifiers": ["MONDO:0007935", "DOID:4447", "OMIM:153880", "orphanet:75381", "UMLS:C0024440", "UMLS:C0730317", "MEDDRA:10051240", "MEDDRA:10058202", "NCIT:C34794", "SNOMEDCT:193387007", "SNOMEDCT:312921000", "medgen:7435", "HP:0011505"], "information_content": 100.0}
{"id": "MONDO:0011258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiootic syndrome 1", "equivalent_identifiers": ["MONDO:0011258", "OMIM:602588", "UMLS:C1865143", "UMLS:C3551443", "medgen:351307"], "information_content": 100.0}
{"id": "HP:0009795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Branchial fistula", "equivalent_identifiers": ["HP:0009795", "UMLS:C0546968", "SNOMEDCT:204268008", "SNOMEDCT:785763000"], "information_content": 100.0}
{"id": "HP:0008554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cochlear malformation", "equivalent_identifiers": ["HP:0008554", "UMLS:C1862050"], "information_content": 89.4}
{"id": "HP:0008586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the cochlea", "equivalent_identifiers": ["HP:0008586", "UMLS:C2676974"], "information_content": 100.0}
{"id": "HP:0004458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilatated internal auditory canal", "equivalent_identifiers": ["HP:0004458", "UMLS:C2676973"], "information_content": 100.0}
{"id": "MONDO:0007423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, mid-tone neural", "equivalent_identifiers": ["MONDO:0007423", "OMIM:124700", "UMLS:C1852283", "MESH:C565122", "medgen:338897"], "information_content": 100.0}
{"id": "MONDO:0009015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy-perceptive deafness syndrome", "equivalent_identifiers": ["MONDO:0009015", "DOID:0111620", "OMIM:217400", "orphanet:1490", "UMLS:C1857572", "MESH:C535473", "SNOMEDCT:720749004", "medgen:387858"], "information_content": 100.0}
{"id": "MONDO:0012435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 5", "equivalent_identifiers": ["MONDO:0012435", "DOID:0110000", "OMIM:610198", "orphanet:66634", "UMLS:C1857776", "MESH:C565706", "NCIT:C173146", "SNOMEDCT:711412004", "medgen:347542", "icd11.foundation:422277813"], "information_content": 100.0}
{"id": "HP:0004856", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Normochromic microcytic anemia", "equivalent_identifiers": ["HP:0004856", "UMLS:C0271902", "SNOMEDCT:4984008"], "information_content": 100.0}
{"id": "HP:0012817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noncompaction cardiomyopathy", "equivalent_identifiers": ["HP:0012817", "UMLS:C1839832", "MEDDRA:10077217"], "information_content": 90.9}
{"id": "HP:0002470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonprogressive cerebellar ataxia", "equivalent_identifiers": ["HP:0002470", "UMLS:C1845029"], "information_content": 100.0}
{"id": "MONDO:0030717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 97 with autoinflammation", "equivalent_identifiers": ["MONDO:0030717", "DOID:0061067", "OMIM:619802", "UMLS:C5676946", "medgen:1802936"], "information_content": 100.0}
{"id": "HP:0003651", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foam cells", "equivalent_identifiers": ["HP:0003651", "UMLS:C0016390", "UMLS:C4281786", "SNOMEDCT:16980002"], "information_content": 85.5}
{"id": "HP:0001742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal congestion", "equivalent_identifiers": ["HP:0001742", "NCIT:C50662", "NCIT:C78500", "UMLS:C0027424", "UMLS:C0027429", "MEDDRA:10010676", "MEDDRA:10028735", "MEDDRA:10028748", "MEDDRA:10028771", "MEDDRA:10029794", "SNOMEDCT:232209000", "SNOMEDCT:267100006", "SNOMEDCT:68235000", "MESH:D015508"], "information_content": 72.6}
{"id": "HP:0040218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced total natural killer cell count", "equivalent_identifiers": ["HP:0040218", "UMLS:C1855767"], "information_content": 83.6}
{"id": "HP:0500266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CD8+ TEMRA T cell proportion", "equivalent_identifiers": ["HP:0500266", "UMLS:C5398016"], "information_content": 100.0}
{"id": "HP:0005425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent sinopulmonary infections", "equivalent_identifiers": ["HP:0005425", "UMLS:C1846546"], "information_content": 100.0}
{"id": "HP:0002850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating total IgM", "equivalent_identifiers": ["HP:0002850", "UMLS:C0239989", "MEDDRA:10011967", "MEDDRA:10021277", "MEDDRA:10021491", "MEDDRA:10021494"], "information_content": 95.4}
{"id": "HP:0002851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated double-negative T cell proportion", "equivalent_identifiers": ["HP:0002851", "UMLS:C1858973"], "information_content": 100.0}
{"id": "MONDO:0015264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptogenic organizing pneumonia", "equivalent_identifiers": ["MONDO:0015264", "DOID:0050157", "orphanet:1302", "EFO:1001300", "UMLS:C0242770", "MESH:D018549", "MEDDRA:10006449", "MEDDRA:10011496", "MEDDRA:10066396", "MEDDRA:10066847", "NCIT:C62586", "SNOMEDCT:129458007", "SNOMEDCT:68409003", "SNOMEDCT:719218000", "medgen:116663", "icd11.foundation:1937662238", "ICD10:J84.116", "ICD9:516.36", "HP:0011945"], "information_content": 100.0}
{"id": "HP:0012312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monocytopenia", "equivalent_identifiers": ["HP:0012312", "NCIT:C113714", "UMLS:C0427544", "MEDDRA:10027905", "SNOMEDCT:165539005"], "information_content": 90.9}
{"id": "HP:0032252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Granuloma", "equivalent_identifiers": ["HP:0032252", "NCIT:C3064", "UMLS:C0018188", "MEDDRA:10018691", "MEDDRA:10018695", "SNOMEDCT:45647009", "MESH:D006099"], "information_content": 75.7}
{"id": "HP:0005415", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CD8+ T cell proportion", "equivalent_identifiers": ["HP:0005415", "UMLS:C1839305"], "information_content": 87.2}
{"id": "MONDO:0013784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal-onset encephalopathy with rigidity and seizures", "equivalent_identifiers": ["MONDO:0013784", "OMIM:614498", "orphanet:435845", "EFO:0009144", "UMLS:C3281029", "NCIT:C154618", "SNOMEDCT:1197587003", "medgen:482659", "ICD10:G40.4"], "information_content": 100.0}
{"id": "HP:0003688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cytochrome C oxidase-negative muscle fibers", "equivalent_identifiers": ["HP:0003688", "UMLS:C4021724"], "information_content": 100.0}
{"id": "HP:0032663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal motor status epilepticus", "equivalent_identifiers": ["HP:0032663", "UMLS:C1396824"], "information_content": 88.2}
{"id": "HP:0031165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multifocal seizures", "equivalent_identifiers": ["HP:0031165", "UMLS:C3281034", "MEDDRA:10073386"], "information_content": 100.0}
{"id": "HP:0002529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neuronal loss in central nervous system", "equivalent_identifiers": ["HP:0002529", "UMLS:C1850496"], "information_content": 82.6}
{"id": "HP:0003739", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myoclonic spasms", "equivalent_identifiers": ["HP:0003739", "UMLS:C3806442"], "information_content": 95.4}
{"id": "MONDO:0009422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypohidrosis with abnormal palmar dermal Ridges", "equivalent_identifiers": ["MONDO:0009422", "OMIM:241120", "UMLS:C1855856", "MESH:C565481", "medgen:340989"], "information_content": 100.0}
{"id": "HP:0007608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal palmar dermal ridges", "equivalent_identifiers": ["HP:0007608", "UMLS:C4024833"], "information_content": 100.0}
{"id": "HP:0007500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased number of sweat glands", "equivalent_identifiers": ["HP:0007500", "UMLS:C4021574"], "information_content": 92.8}
{"id": "MONDO:0011968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2D", "equivalent_identifiers": ["MONDO:0011968", "DOID:0110278", "OMIM:608099", "orphanet:62", "UMLS:C2936332", "NCIT:C142081", "SNOMEDCT:715340002", "medgen:424706"], "information_content": 100.0}
{"id": "HP:0003797", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb-girdle muscle atrophy", "equivalent_identifiers": ["HP:0003797", "UMLS:C1404521", "UMLS:C1842552"], "information_content": 83.6}
{"id": "HP:0100297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased endomysial connective tissue", "equivalent_identifiers": ["HP:0100297", "UMLS:C4022161"], "information_content": 100.0}
{"id": "HP:0008981", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calf muscle hypertrophy", "equivalent_identifiers": ["HP:0008981", "UMLS:C1843057"], "information_content": 100.0}
{"id": "HP:0006466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle flexion contracture", "equivalent_identifiers": ["HP:0006466", "UMLS:C1837407"], "information_content": 100.0}
{"id": "HP:0003713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber necrosis", "equivalent_identifiers": ["HP:0003713", "UMLS:C1850848"], "information_content": 100.0}
{"id": "HP:0003325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb-girdle muscle weakness", "equivalent_identifiers": ["HP:0003325", "UMLS:C1858127"], "information_content": 84.2}
{"id": "HP:0003458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: myopathic abnormalities", "equivalent_identifiers": ["HP:0003458", "UMLS:C4021726"], "information_content": 100.0}
{"id": "MONDO:0958229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bleeding disorder, vascular-type", "equivalent_identifiers": ["MONDO:0958229", "OMIM:620715", "UMLS:C5935577", "medgen:1853829"], "information_content": 100.0}
{"id": "HP:0040184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral bleeding", "equivalent_identifiers": ["HP:0040184", "NCIT:C79699", "UMLS:C0029163", "MEDDRA:10019559", "MEDDRA:10019570", "MEDDRA:10019574", "MEDDRA:10028024", "MEDDRA:10028025", "MEDDRA:10030978", "MEDDRA:10030980", "MEDDRA:10031016", "MEDDRA:10049331", "MEDDRA:10055823", "MEDDRA:10055831", "MEDDRA:10055833", "MEDDRA:10071840", "SNOMEDCT:22490002", "MESH:D006472"], "information_content": 95.4}
{"id": "MONDO:0030966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurofacioskeletal syndrome with or without renal agenesis", "equivalent_identifiers": ["MONDO:0030966", "OMIM:619194", "UMLS:C5543070", "medgen:1778926"], "information_content": 100.0}
{"id": "MONDO:0015479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "submucosal cleft palate", "equivalent_identifiers": ["MONDO:0015479", "orphanet:155878", "UMLS:C0432103", "UMLS:C4020894", "SNOMEDCT:43437003", "medgen:98472", "icd11.foundation:1848627578", "HP:0000176"], "information_content": 95.4}
{"id": "HP:0011927", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short digit", "equivalent_identifiers": ["HP:0011927", "UMLS:C1860176", "UMLS:C4023124"], "information_content": 68.5}
{"id": "HP:0010282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin lower lip vermilion", "equivalent_identifiers": ["HP:0010282", "UMLS:C2053440"], "information_content": 95.4}
{"id": "HP:0007676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the iris", "equivalent_identifiers": ["HP:0007676", "UMLS:C0344539", "MEDDRA:10057914", "SNOMEDCT:95714006"], "information_content": 88.2}
{"id": "HP:0009899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent crus of helix", "equivalent_identifiers": ["HP:0009899", "UMLS:C4021377"], "information_content": 100.0}
{"id": "HP:0003090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the capital femoral epiphysis", "equivalent_identifiers": ["HP:0003090", "UMLS:C1839254"], "information_content": 100.0}
{"id": "MONDO:0002407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spider nevus", "equivalent_identifiers": ["MONDO:0002407", "DOID:2725", "UMLS:C0085666", "UMLS:C0206733", "MESH:D018324", "MEDDRA:10002462", "MEDDRA:10007197", "MEDDRA:10019404", "MEDDRA:10041516", "MEDDRA:10041518", "MEDDRA:10041519", "MEDDRA:10041520", "MEDDRA:10041521", "MEDDRA:10042171", "MEDDRA:10042172", "MEDDRA:10055906", "MEDDRA:10062789", "MEDDRA:10062803", "MEDDRA:10077462", "MEDDRA:10087485", "MEDDRA:10087487", "NCIT:C3481", "NCIT:C7457", "SNOMEDCT:1197658008", "SNOMEDCT:195382003", "SNOMEDCT:254206003", "SNOMEDCT:402867006", "SNOMEDCT:56975005", "SNOMEDCT:83343001", "medgen:64643", "ICD10:Q82.5", "HP:0005306"], "information_content": 80.9}
{"id": "HP:0009907", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Attached earlobe", "equivalent_identifiers": ["HP:0009907", "UMLS:C4021375"], "information_content": 100.0}
{"id": "HP:0011232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infra-orbital fold", "equivalent_identifiers": ["HP:0011232", "UMLS:C1328339", "UMLS:C4023449", "MEDDRA:10062918"], "information_content": 100.0}
{"id": "HP:0010186", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad distal phalanx of the toes", "equivalent_identifiers": ["HP:0010186", "UMLS:C4023980"], "information_content": 88.2}
{"id": "MONDO:0007577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal ring, lower", "equivalent_identifiers": ["MONDO:0007577", "OMIM:133240", "UMLS:C0341137", "MESH:C562765", "SNOMEDCT:235623002", "medgen:83320"], "information_content": 100.0}
{"id": "MONDO:0060624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter", "equivalent_identifiers": ["MONDO:0060624", "OMIM:617807", "UMLS:C4540498", "medgen:1621102"], "information_content": 100.0}
{"id": "HP:0040082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Happy demeanor", "equivalent_identifiers": ["HP:0040082", "UMLS:C1856115"], "information_content": 95.4}
{"id": "MONDO:0008927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "equivalent_identifiers": ["MONDO:0008927", "DOID:0080635", "OMIM:212550", "orphanet:435930", "UMLS:C1859311", "UMLS:C4225424", "MESH:C565876", "SNOMEDCT:1197357008", "medgen:894574"], "information_content": 100.0}
{"id": "HP:0000616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miosis", "equivalent_identifiers": ["HP:0000616", "UMLS:C0026205", "MEDDRA:10027646", "SNOMEDCT:63251006", "MESH:D015877"], "information_content": 90.9}
{"id": "HP:0000684", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed eruption of teeth", "equivalent_identifiers": ["HP:0000684", "UMLS:C0239174", "SNOMEDCT:5639000"], "information_content": 89.4}
{"id": "HP:0002738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic frontal sinuses", "equivalent_identifiers": ["HP:0002738", "UMLS:C1859682", "UMLS:C4280548", "UMLS:C4280549"], "information_content": 100.0}
{"id": "HP:0002689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Missing sinuses", "equivalent_identifiers": ["HP:0002689", "UMLS:C1857131", "UMLS:C3804986", "UMLS:C4072844", "MEDDRA:10074401"], "information_content": 89.4}
{"id": "HP:0004349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced bone mineral density", "equivalent_identifiers": ["HP:0004349", "UMLS:C2674432"], "information_content": 67.2}
{"id": "MONDO:0859297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities", "equivalent_identifiers": ["MONDO:0859297", "OMIM:620073", "orphanet:662189", "UMLS:C5774231", "medgen:1824004"], "information_content": 100.0}
{"id": "HP:0008450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow vertebral interpedicular distance", "equivalent_identifiers": ["HP:0008450", "UMLS:C1832598"], "information_content": 89.4}
{"id": "HP:0040022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 2nd finger", "equivalent_identifiers": ["HP:0040022", "UMLS:C4022486"], "information_content": 100.0}
{"id": "HP:0000066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Labial hypoplasia", "equivalent_identifiers": ["HP:0000066", "UMLS:C1850325"], "information_content": 92.8}
{"id": "HP:0005824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 2nd toe", "equivalent_identifiers": ["HP:0005824", "UMLS:C4021620", "UMLS:C4280473"], "information_content": 100.0}
{"id": "HP:0004227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of the 5th finger", "equivalent_identifiers": ["HP:0004227", "UMLS:C1836674"], "information_content": 100.0}
{"id": "MONDO:0859572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac valvular dysplasia 2", "equivalent_identifiers": ["MONDO:0859572", "OMIM:620067", "UMLS:C5774226", "medgen:1823999"], "information_content": 100.0}
{"id": "HP:0030148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heart murmur", "equivalent_identifiers": ["HP:0030148", "NCIT:C84480", "UMLS:C0018808", "MEDDRA:10007586", "MEDDRA:10007588", "MEDDRA:10019295", "SNOMEDCT:414786004", "SNOMEDCT:421493004", "SNOMEDCT:88610006", "MESH:D006337"], "information_content": 85.5}
{"id": "HP:0004970", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ascending tubular aorta aneurysm", "equivalent_identifiers": ["HP:0004970", "UMLS:C0345049", "UMLS:C0856747", "MEDDRA:10002347", "SNOMEDCT:253645007", "SNOMEDCT:425963007", "MESH:D000094625"], "information_content": 92.8}
{"id": "HP:0025168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left ventricular diastolic dysfunction", "equivalent_identifiers": ["HP:0025168", "UMLS:C1273070", "MEDDRA:10074568", "SNOMEDCT:395704004"], "information_content": 100.0}
{"id": "HP:0005176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic aortic valve", "equivalent_identifiers": ["HP:0005176", "UMLS:C1866207"], "information_content": 100.0}
{"id": "MONDO:0001927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary valve insufficiency", "equivalent_identifiers": ["MONDO:0001927", "DOID:14265", "UMLS:C0034088", "UMLS:C2882248", "MESH:D011665", "MEDDRA:10037408", "MEDDRA:10037448", "MEDDRA:10051697", "MEDDRA:10052842", "NCIT:C50848", "NCIT:C62436", "SNOMEDCT:194995005", "SNOMEDCT:91434003", "medgen:11031", "icd11.foundation:1093888988", "HP:0010444"], "information_content": 95.4}
{"id": "HP:0031664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Systolic heart murmur", "equivalent_identifiers": ["HP:0031664", "UMLS:C0232257", "MEDDRA:10042956", "MEDDRA:10042958", "SNOMEDCT:31574009", "MESH:D054160"], "information_content": 90.9}
{"id": "HP:0034032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central cyanosis", "equivalent_identifiers": ["HP:0034032", "UMLS:C0521800", "MEDDRA:10011704", "SNOMEDCT:95837007"], "information_content": 100.0}
{"id": "HP:0004927", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary artery dilatation", "equivalent_identifiers": ["HP:0004927", "UMLS:C0428851", "MEDDRA:10058491", "SNOMEDCT:251047005"], "information_content": 95.4}
{"id": "HP:0100749", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chest pain", "equivalent_identifiers": ["HP:0100749", "NCIT:C38665", "UMLS:C0008031", "UMLS:C0235710", "MEDDRA:10008469", "MEDDRA:10008479", "MEDDRA:10029524", "MEDDRA:10033387", "MEDDRA:10043471", "MEDDRA:10043492", "MEDDRA:10045653", "MEDDRA:10067524", "MEDDRA:10084023", "SNOMEDCT:279084009", "SNOMEDCT:29857009", "MESH:D002637"], "information_content": 66.9}
{"id": "MONDO:0009644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B", "equivalent_identifiers": ["MONDO:0009644", "DOID:0111163", "OMIM:252160", "orphanet:308393", "UMLS:C1854989", "MESH:C565373", "SNOMEDCT:1003368009", "medgen:340760"], "information_content": 100.0}
{"id": "HP:0011935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary urate", "equivalent_identifiers": ["HP:0011935", "UMLS:C4023118"], "information_content": 95.4}
{"id": "HP:0011814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary hypoxanthine level", "equivalent_identifiers": ["HP:0011814", "UMLS:C3810487", "UMLS:C5826349"], "information_content": 100.0}
{"id": "MONDO:0020480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency", "equivalent_identifiers": ["MONDO:0020480", "DOID:0111165", "OMIM.PS:252150", "orphanet:99732", "UMLS:C0268119", "MESH:C535811", "MEDDRA:10069687", "NCIT:C129076", "SNOMEDCT:29692004", "medgen:75652", "icd11.foundation:819219337", "HP:0003570"], "information_content": 90.9}
{"id": "HP:0003447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axonal loss", "equivalent_identifiers": ["HP:0003447", "UMLS:C1832338"], "information_content": 100.0}
{"id": "MONDO:0000721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthinuria", "equivalent_identifiers": ["MONDO:0000721", "UMLS:C0220988", "SNOMEDCT:190919008", "medgen:450997", "icd11.foundation:1565213608", "HP:0010934"], "information_content": 89.4}
{"id": "HP:0003166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary taurine", "equivalent_identifiers": ["HP:0003166", "UMLS:C3806447"], "information_content": 95.4}
{"id": "HP:0011942", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary sulfite level", "equivalent_identifiers": ["HP:0011942", "UMLS:C1848957", "UMLS:C5826350"], "information_content": 100.0}
{"id": "HP:0012019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lens luxation", "equivalent_identifiers": ["HP:0012019"], "information_content": 100.0}
{"id": "HP:0000804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xanthine nephrolithiasis", "equivalent_identifiers": ["HP:0000804", "UMLS:C1848431"], "information_content": 100.0}
{"id": "MONDO:0009076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 1A", "equivalent_identifiers": ["MONDO:0009076", "DOID:0110475", "OMIM:220290", "UMLS:C2673759", "UMLS:C2673760", "UMLS:C2673761", "MESH:C567134", "NCIT:C129022", "medgen:388720"], "information_content": 100.0}
{"id": "MONDO:0008397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aplasia of lacrimal and salivary glands", "equivalent_identifiers": ["MONDO:0008397", "DOID:0111549", "OMIM:180920", "orphanet:86815", "UMLS:C0158667", "UMLS:C1867059", "MESH:C562407", "MESH:C566702", "MEDDRA:10000328", "SNOMEDCT:22589009", "SNOMEDCT:715656004", "medgen:57641", "icd11.foundation:539255304", "ICD9:750.21"], "information_content": 100.0}
{"id": "HP:0000217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xerostomia", "equivalent_identifiers": ["HP:0000217", "EFO:0009869", "NCIT:C26917", "UMLS:C0043352", "MEDDRA:10003068", "MEDDRA:10013781", "MEDDRA:10013794", "MEDDRA:10028016", "MEDDRA:10028021", "MEDDRA:10030974", "MEDDRA:10039380", "MEDDRA:10039425", "MEDDRA:10048223", "MEDDRA:10050239", "MEDDRA:10050240", "MP:0000624", "SNOMEDCT:300268000", "SNOMEDCT:56893005", "SNOMEDCT:87715008", "MESH:D014987"], "information_content": 95.4}
{"id": "MONDO:0007871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial congenital nasolacrimal duct obstruction", "equivalent_identifiers": ["MONDO:0007871", "OMIM:149700", "orphanet:451612", "UMLS:C0344509", "UMLS:C1835612", "UMLS:C1867060", "MESH:C566703", "MEDDRA:10023636", "SNOMEDCT:204208005", "SNOMEDCT:253217007", "medgen:332018", "HP:0001092"], "information_content": 100.0}
{"id": "HP:0007732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacrimal gland hypoplasia", "equivalent_identifiers": ["HP:0007732", "UMLS:C1863200"], "information_content": 95.4}
{"id": "HP:0007656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacrimal gland aplasia", "equivalent_identifiers": ["HP:0007656", "UMLS:C4024822"], "information_content": 100.0}
{"id": "MONDO:0010722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked retinal dysplasia", "equivalent_identifiers": ["MONDO:0010722", "OMIM:312550", "orphanet:1852", "UMLS:C3887971", "UMLS:C4275241", "SNOMEDCT:715240000", "medgen:909011"], "information_content": 100.0}
{"id": "HP:0001493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Falciform retinal fold", "equivalent_identifiers": ["HP:0001493", "UMLS:C0344550", "SNOMEDCT:204181009"], "information_content": 100.0}
{"id": "MONDO:0014421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid resistance", "equivalent_identifiers": ["MONDO:0014421", "OMIM:615962", "orphanet:786", "UMLS:C1841972", "MESH:C564221", "NCIT:C126809", "medgen:333960", "icd11.foundation:125216923"], "information_content": 100.0}
{"id": "HP:0003154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating ACTH level", "equivalent_identifiers": ["HP:0003154", "UMLS:C4021740"], "information_content": 95.4}
{"id": "HP:0030088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum testosterone level", "equivalent_identifiers": ["HP:0030088", "UMLS:C0241358", "UMLS:C4072885", "MEDDRA:10043369", "MEDDRA:10043370"], "information_content": 95.4}
{"id": "HP:0025380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating androstenedione concentration", "equivalent_identifiers": ["HP:0025380", "UMLS:C0240995"], "information_content": 100.0}
{"id": "HP:0000858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular menstruation", "equivalent_identifiers": ["HP:0000858", "UMLS:C0156404", "MEDDRA:10022991", "MEDDRA:10022992", "MEDDRA:10022993", "MEDDRA:10027317", "MEDDRA:10027333", "SNOMEDCT:80182007"], "information_content": 100.0}
{"id": "HP:0200114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metabolic alkalosis", "equivalent_identifiers": ["HP:0200114", "NCIT:C114478", "UMLS:C0220983", "MEDDRA:10001686", "MEDDRA:10027422", "MEDDRA:10027423", "SNOMEDCT:1388004"], "information_content": 92.8}
{"id": "MONDO:0006640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal gland hyperfunction", "equivalent_identifiers": ["MONDO:0006640", "DOID:3947", "EFO:1000797", "UMLS:C0001622", "UMLS:C0342443", "UMLS:C4025651", "MESH:D000308", "MEDDRA:10001332", "MEDDRA:10001341", "MEDDRA:10001365", "MEDDRA:10020561", "MEDDRA:10020562", "MEDDRA:10020563", "MEDDRA:10020564", "MEDDRA:10020609", "MEDDRA:10020610", "MEDDRA:10020611", "MEDDRA:10020612", "MEDDRA:10075909", "MEDDRA:10075914", "NCIT:C113208", "SNOMEDCT:237735008", "SNOMEDCT:275437005", "SNOMEDCT:47270006", "medgen:7899", "HP:0003118"], "information_content": 83.6}
{"id": "MONDO:0007434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary failure of tooth eruption", "equivalent_identifiers": ["MONDO:0007434", "DOID:0111341", "OMIM:125350", "orphanet:412206", "UMLS:C1852222", "MESH:C565114", "SNOMEDCT:1231153007", "medgen:338882"], "information_content": 100.0}
{"id": "MONDO:0030929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 27, primary, autosomal dominant", "equivalent_identifiers": ["MONDO:0030929", "OMIM:619180", "UMLS:C5543051", "medgen:1783457"], "information_content": 100.0}
{"id": "MONDO:0014552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "equivalent_identifiers": ["MONDO:0014552", "OMIM:616258", "orphanet:439897", "UMLS:C4015701", "SNOMEDCT:1237342004", "medgen:864138"], "information_content": 100.0}
{"id": "HP:0032464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureteral hypoplasia", "equivalent_identifiers": ["HP:0032464", "UMLS:C4015704"], "information_content": 95.4}
{"id": "HP:0006872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral hypoplasia", "equivalent_identifiers": ["HP:0006872", "UMLS:C1855330"], "information_content": 90.9}
{"id": "HP:0002139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arrhinencephaly", "equivalent_identifiers": ["HP:0002139", "UMLS:C0078982", "MEDDRA:10087157"], "information_content": 100.0}
{"id": "MONDO:0012529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 3", "equivalent_identifiers": ["MONDO:0012529", "DOID:0111887", "OMIM:610629", "UMLS:C1857719", "MESH:C536355", "NCIT:C176912", "medgen:387892"], "information_content": 100.0}
{"id": "MONDO:0014941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, with impaired proprioception and touch", "equivalent_identifiers": ["MONDO:0014941", "OMIM:617146", "UMLS:C4310692", "medgen:934659"], "information_content": 100.0}
{"id": "HP:0002058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myopathic facies", "equivalent_identifiers": ["HP:0002058", "UMLS:C0332615", "SNOMEDCT:26432009"], "information_content": 100.0}
{"id": "HP:0003484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb muscle weakness", "equivalent_identifiers": ["HP:0003484", "NCIT:C78459", "UMLS:C1698196", "MEDDRA:10065895", "SNOMEDCT:713512009"], "information_content": 90.9}
{"id": "HP:0007010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor fine motor coordination", "equivalent_identifiers": ["HP:0007010", "UMLS:C1867864", "MEDDRA:10076288"], "information_content": 100.0}
{"id": "MONDO:0032649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 14", "equivalent_identifiers": ["MONDO:0032649", "DOID:0080582", "OMIM:618275", "UMLS:C4748930", "medgen:1648477"], "information_content": 100.0}
{"id": "HP:0002231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse body hair", "equivalent_identifiers": ["HP:0002231", "UMLS:C1862863"], "information_content": 100.0}
{"id": "HP:0010764", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short eyelashes", "equivalent_identifiers": ["HP:0010764", "UMLS:C2748682"], "information_content": 90.9}
{"id": "HP:0002225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse pubic hair", "equivalent_identifiers": ["HP:0002225", "UMLS:C1858573"], "information_content": 100.0}
{"id": "MONDO:0013223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spondylometaphyseal dysplasia, Megarbane type", "equivalent_identifiers": ["MONDO:0013223", "DOID:0112304", "OMIM:613320", "orphanet:401979", "UMLS:C2750075", "MESH:C567644", "medgen:413221"], "information_content": 100.0}
{"id": "HP:0004565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe platyspondyly", "equivalent_identifiers": ["HP:0004565", "UMLS:C1850293"], "information_content": 95.4}
{"id": "HP:0003177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Squared iliac bones", "equivalent_identifiers": ["HP:0003177", "UMLS:C1838186"], "information_content": 100.0}
{"id": "HP:0003175", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic ischia", "equivalent_identifiers": ["HP:0003175", "UMLS:C1859447"], "information_content": 92.8}
{"id": "HP:0008455", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic sacrum", "equivalent_identifiers": ["HP:0008455", "UMLS:C0431414", "UMLS:C1851305", "SNOMEDCT:253189008"], "information_content": 100.0}
{"id": "MONDO:0008476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Strudwick type", "equivalent_identifiers": ["MONDO:0008476", "DOID:0080028", "OMIM:184250", "orphanet:93346", "UMLS:C0700635", "MESH:C537501", "SNOMEDCT:702350003", "medgen:147134", "HP:0002657"], "information_content": 100.0}
{"id": "HP:0003021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal cupping", "equivalent_identifiers": ["HP:0003021", "UMLS:C1837082"], "information_content": 89.4}
{"id": "HP:0006387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide distal femoral metaphysis", "equivalent_identifiers": ["HP:0006387", "UMLS:C1849309"], "information_content": 100.0}
{"id": "HP:0008786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iliac crest serration", "equivalent_identifiers": ["HP:0008786", "UMLS:C1857186"], "information_content": 100.0}
{"id": "MONDO:0014440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 12", "equivalent_identifiers": ["MONDO:0014440", "DOID:0110134", "OMIM:615989", "EFO:0009023", "UMLS:C1859570", "MESH:C565921", "medgen:347910"], "information_content": 100.0}
{"id": "HP:0031500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal mass", "equivalent_identifiers": ["HP:0031500", "NCIT:C34333", "UMLS:C0000734", "MEDDRA:10000077", "MEDDRA:10000078", "MEDDRA:10026868", "SNOMEDCT:271860004"], "information_content": 61.0}
{"id": "HP:0030010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hydrometrocolpos", "equivalent_identifiers": ["HP:0030010", "UMLS:C0269209", "MEDDRA:10068222", "SNOMEDCT:60023006"], "information_content": 100.0}
{"id": "MONDO:0014332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "equivalent_identifiers": ["MONDO:0014332", "OMIM:615751", "orphanet:401948", "UMLS:C3810404", "UMLS:C4706871", "SNOMEDCT:764456001", "medgen:816734"], "information_content": 100.0}
{"id": "HP:0033407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine acetoacetic acid level", "equivalent_identifiers": ["HP:0033407", "UMLS:C5539568"], "information_content": 100.0}
{"id": "HP:0003572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low plasma citrulline", "equivalent_identifiers": ["HP:0003572", "UMLS:C1839532"], "information_content": 95.4}
{"id": "HP:0500163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoornithinemia", "equivalent_identifiers": ["HP:0500163", "UMLS:C5139561"], "information_content": 95.4}
{"id": "HP:0033111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxyisovaleric aciduria", "equivalent_identifiers": ["HP:0033111", "UMLS:C5421619"], "information_content": 100.0}
{"id": "HP:0040155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 3-hydroxybutyric acid", "equivalent_identifiers": ["HP:0040155", "UMLS:C4022414"], "information_content": 100.0}
{"id": "MONDO:0023419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperprolinemia", "equivalent_identifiers": ["MONDO:0023419", "DOID:0080541", "UMLS:C0268528", "MEDDRA:10058509", "MEDDRA:10058515", "SNOMEDCT:59655002", "medgen:75690", "HP:0008358"], "information_content": 92.8}
{"id": "HP:0003648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacticaciduria", "equivalent_identifiers": ["HP:0003648", "UMLS:C4025585"], "information_content": 100.0}
{"id": "HP:0003228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypernatremia", "equivalent_identifiers": ["HP:0003228", "UMLS:C0020488", "MEDDRA:10020679", "MEDDRA:10020680", "MEDDRA:10028672", "MEDDRA:10041277", "SNOMEDCT:286926003", "SNOMEDCT:39355002", "SNOMEDCT:771115008", "MESH:D006955"], "information_content": 92.8}
{"id": "HP:0005961", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoargininemia", "equivalent_identifiers": ["HP:0005961", "UMLS:C1859735", "UMLS:C4025095", "MEDDRA:10090355", "MEDDRA:10090358"], "information_content": 95.4}
{"id": "HP:0033213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine suberic acid level", "equivalent_identifiers": ["HP:0033213", "UMLS:C5421685"], "information_content": 100.0}
{"id": "HP:0500251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine sebacic acid concentration", "equivalent_identifiers": ["HP:0500251", "UMLS:C5139636"], "information_content": 95.4}
{"id": "HP:0003217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperglutaminemia", "equivalent_identifiers": ["HP:0003217", "UMLS:C1839533"], "information_content": 95.4}
{"id": "HP:0001950", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory alkalosis", "equivalent_identifiers": ["HP:0001950", "NCIT:C50729", "UMLS:C0002064", "MEDDRA:10001688", "MEDDRA:10038663", "MEDDRA:10038664", "SNOMEDCT:111378004", "MESH:D000472"], "information_content": 100.0}
{"id": "MONDO:0007258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "canine teeth, absence of upper permanent", "equivalent_identifiers": ["MONDO:0007258", "OMIM:114600", "UMLS:C1861899", "medgen:396244"], "information_content": 100.0}
{"id": "HP:0012738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of canine", "equivalent_identifiers": ["HP:0012738", "UMLS:C4021072", "UMLS:C4280311"], "information_content": 100.0}
{"id": "MONDO:0008604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triphalangeal thumb with double phalanges", "equivalent_identifiers": ["MONDO:0008604", "OMIM:190500", "UMLS:C1860807", "MESH:C566028", "medgen:395985"], "information_content": 100.0}
{"id": "HP:0009606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete duplication of distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009606", "UMLS:C4021427"], "information_content": 100.0}
{"id": "MONDO:0013694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 31", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013694", "DOID:0081191", "OMIM:614329", "UMLS:C3280523", "medgen:482153"], "information_content": 100.0}
{"id": "MONDO:0032794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leber congenital amaurosis 19", "equivalent_identifiers": ["MONDO:0032794", "DOID:0081169", "OMIM:618513", "UMLS:C5193139", "medgen:1679297"], "information_content": 100.0}
{"id": "MONDO:0010428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome Xp11.23-p11.22 duplication syndrome", "equivalent_identifiers": ["MONDO:0010428", "DOID:0060461", "OMIM:300801", "orphanet:217377", "UMLS:C2749022", "UMLS:C4303068", "MESH:C567585", "SNOMEDCT:721881008", "medgen:440690"], "information_content": 100.0}
{"id": "HP:0012704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened subarachnoid space", "equivalent_identifiers": ["HP:0012704", "UMLS:C1846151"], "information_content": 92.8}
{"id": "HP:0100962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shyness", "equivalent_identifiers": ["HP:0100962", "UMLS:C0037020", "UMLS:C5886921"], "information_content": 100.0}
{"id": "HP:0005709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-3 toe cutaneous syndactyly", "equivalent_identifiers": ["HP:0005709", "UMLS:C0432040", "SNOMEDCT:205145001"], "information_content": 100.0}
{"id": "MONDO:0010983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 9", "equivalent_identifiers": ["MONDO:0010983", "DOID:0090044", "OMIM:601042", "orphanet:53583", "UMLS:C1832855", "MESH:C563401", "SNOMEDCT:715564000", "medgen:371427"], "information_content": 100.0}
{"id": "MONDO:0859306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with variable intellectual disability and dysmorphic facies", "equivalent_identifiers": ["MONDO:0859306", "OMIM:620098", "UMLS:C5774242", "medgen:1824015"], "information_content": 100.0}
{"id": "HP:0001212", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent fingertip pads", "equivalent_identifiers": ["HP:0001212", "UMLS:C1835807"], "information_content": 100.0}
{"id": "HP:0009183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joint contracture of the 5th finger", "equivalent_identifiers": ["HP:0009183", "UMLS:C1865702"], "information_content": 90.9}
{"id": "MONDO:0010873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "band heterotopia of brain", "equivalent_identifiers": ["MONDO:0010873", "OMIM:600348", "UMLS:C1838239", "UMLS:C4284594", "MESH:C563950", "medgen:924885"], "information_content": 100.0}
{"id": "MONDO:0024507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia 1", "equivalent_identifiers": ["MONDO:0024507", "DOID:0070532", "OMIM:106210", "UMLS:C0344542", "UMLS:C3805349", "SNOMEDCT:253231007", "medgen:576337"], "information_content": 100.0}
{"id": "MONDO:0007515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic pupil", "equivalent_identifiers": ["MONDO:0007515", "OMIM:129750", "UMLS:C0271135", "UMLS:C1271219", "MESH:C536185", "MEDDRA:10010983", "SNOMEDCT:193523008", "SNOMEDCT:392461003", "medgen:224790", "icd11.foundation:70138444", "HP:0009918"], "information_content": 100.0}
{"id": "HP:0031883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased proinsulin:insulin ratio", "equivalent_identifiers": ["HP:0031883", "UMLS:C4703595"], "information_content": 100.0}
{"id": "HP:0033743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular agenesis", "equivalent_identifiers": ["HP:0033743", "UMLS:C5539788"], "information_content": 100.0}
{"id": "HP:0012841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal vascular tortuosity", "equivalent_identifiers": ["HP:0012841", "UMLS:C1860475", "MEDDRA:10088004"], "information_content": 90.9}
{"id": "HP:0200020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal erosion", "equivalent_identifiers": ["HP:0200020", "UMLS:C0392163", "MEDDRA:10011013", "SNOMEDCT:50792001"], "information_content": 89.4}
{"id": "HP:0040030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal hypopigmentation", "equivalent_identifiers": ["HP:0040030", "UMLS:C4022483"], "information_content": 100.0}
{"id": "MONDO:0006713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal pannus", "equivalent_identifiers": ["MONDO:0006713", "DOID:11382", "EFO:1000880", "UMLS:C0085109", "UMLS:C0155094", "MESH:D016510", "MEDDRA:10011031", "MEDDRA:10011032", "MEDDRA:10033682", "MEDDRA:10055665", "NCIT:C50686", "SNOMEDCT:19161004", "SNOMEDCT:246925003", "SNOMEDCT:35666006", "medgen:43103", "icd11.foundation:2077068570", "ICD10:H16.4", "ICD9:370.6", "HP:0011496"], "information_content": 95.4}
{"id": "MONDO:0019172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia", "equivalent_identifiers": ["MONDO:0019172", "DOID:12271", "UMLS:C0003076", "MESH:D015783", "MEDDRA:10002532", "NCIT:C84563", "SNOMEDCT:69278003", "medgen:1941", "icd11.foundation:970699895", "ICD10:Q13.1", "ICD9:743.45", "HP:0000526"], "information_content": 87.2}
{"id": "MONDO:0014010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 9", "equivalent_identifiers": ["MONDO:0014010", "DOID:0060718", "OMIM:615023", "UMLS:C3554349", "medgen:767263"], "information_content": 100.0}
{"id": "HP:0033252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar hyperlinearity", "equivalent_identifiers": ["HP:0033252", "UMLS:C1864168"], "information_content": 100.0}
{"id": "HP:0012472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eclabion", "equivalent_identifiers": ["HP:0012472", "UMLS:C3550430"], "information_content": 92.8}
{"id": "HP:0040162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orthokeratosis", "equivalent_identifiers": ["HP:0040162", "NCIT:C83193", "UMLS:C1843359", "SNOMEDCT:708474007"], "information_content": 95.4}
{"id": "MONDO:0007938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 4", "equivalent_identifiers": ["MONDO:0007938", "DOID:0111771", "OMIM:154230", "UMLS:C2752149", "MESH:C567887", "NCIT:C132270", "medgen:416704"], "information_content": 100.0}
{"id": "HP:0008633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agonadism", "equivalent_identifiers": ["HP:0008633", "UMLS:C2118097", "UMLS:C4024652"], "information_content": 100.0}
{"id": "MONDO:0008509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal symphalangism", "equivalent_identifiers": ["MONDO:0008509", "OMIM:185700", "orphanet:3248", "UMLS:C1861401", "MESH:C566099", "medgen:350018", "icd11.foundation:1737945585", "HP:0100263"], "information_content": 83.1}
{"id": "HP:0003138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased blood urea nitrogen", "equivalent_identifiers": ["HP:0003138", "NCIT:C122438", "UMLS:C0151539", "MEDDRA:10005851", "MEDDRA:10005855", "MEDDRA:10006576", "MEDDRA:10029428", "MEDDRA:10037807", "MEDDRA:10046348", "MEDDRA:10046349", "MEDDRA:10046355"], "information_content": 95.4}
{"id": "MONDO:0009211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor VII deficiency", "equivalent_identifiers": ["MONDO:0009211", "DOID:2215", "OMIM:227500", "orphanet:327", "UMLS:C0272320", "NCIT:C131631", "NCIT:C98939", "SNOMEDCT:40855001", "medgen:473015", "ICD10:D68.2"], "information_content": 90.9}
{"id": "HP:0012233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle hematoma", "equivalent_identifiers": ["HP:0012233", "UMLS:C0240412", "MEDDRA:10019433", "MEDDRA:10055890", "SNOMEDCT:262969000"], "information_content": 100.0}
{"id": "MONDO:0009610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 1", "equivalent_identifiers": ["MONDO:0009610", "DOID:0110002", "OMIM:250950", "orphanet:67046", "UMLS:C0342727", "MESH:C562801", "NCIT:C98683", "SNOMEDCT:237951008", "medgen:90994", "icd11.foundation:899935975"], "information_content": 95.4}
{"id": "HP:6000577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue 3-methylglutaconyl-CoA hydratase activity", "equivalent_identifiers": ["HP:6000577", "UMLS:C5937339"], "information_content": 100.0}
{"id": "MONDO:0014329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial standstill 2", "equivalent_identifiers": ["MONDO:0014329", "DOID:0080663", "OMIM:615745", "UMLS:C3810401", "medgen:816731"], "information_content": 100.0}
{"id": "HP:0001692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrial arrhythmia", "equivalent_identifiers": ["HP:0001692", "NCIT:C80503", "UMLS:C0085611", "UMLS:C4025755", "MEDDRA:10003121", "MEDDRA:10003122", "MEDDRA:10003656", "MEDDRA:10003657", "SNOMEDCT:17366009"], "information_content": 76.4}
{"id": "MONDO:0005594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cicatrization", "equivalent_identifiers": ["MONDO:0005594", "EFO:0006346", "UMLS:C0008767", "UMLS:C0241158", "UMLS:C2004491", "UMLS:C5554042", "MESH:D002921", "MEDDRA:10009178", "MEDDRA:10039580", "MEDDRA:10039589", "MEDDRA:10070845", "MEDDRA:10085778", "NCIT:C34483", "NCIT:C50737", "SNOMEDCT:12402003", "SNOMEDCT:275322007", "SNOMEDCT:48677004", "SNOMEDCT:70582006", "medgen:1843455", "HP:0100699"], "information_content": 82.1}
{"id": "HP:0033122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent P wave", "equivalent_identifiers": ["HP:0033122", "UMLS:C1837847"], "information_content": 100.0}
{"id": "HP:0006698", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilatation of the ventricular cavity", "equivalent_identifiers": ["HP:0006698", "NCIT:C27140", "UMLS:C0392464", "UMLS:C4476545", "MEDDRA:10002361", "MEDDRA:10047280", "SNOMEDCT:90539001"], "information_content": 95.4}
{"id": "HP:0003238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpepsinogenemia I", "equivalent_identifiers": ["HP:0003238", "UMLS:C4025638"], "information_content": 100.0}
{"id": "MONDO:0012683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 6", "equivalent_identifiers": ["MONDO:0012683", "DOID:0060275", "OMIM:611523", "orphanet:166073", "UMLS:C1969084", "MESH:C548074", "SNOMEDCT:718606005", "medgen:370596", "icd11.foundation:1612653027"], "information_content": 100.0}
{"id": "HP:0006986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb spasticity", "equivalent_identifiers": ["HP:0006986", "UMLS:C1273957", "SNOMEDCT:394680009"], "information_content": 100.0}
{"id": "MONDO:0011818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated focal cortical dysplasia type II", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0011818", "OMIM:607341", "orphanet:268994", "UMLS:C1846385", "UMLS:C1846388", "UMLS:C1846389", "MESH:C537067", "MESH:C564583", "NCIT:C201593", "SNOMEDCT:1003461002", "medgen:339510", "HP:0032051"], "information_content": 92.8}
{"id": "HP:0007042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal white matter lesions", "equivalent_identifiers": ["HP:0007042", "UMLS:C4024946"], "information_content": 92.8}
{"id": "HP:0002446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Astrocytosis", "equivalent_identifiers": ["HP:0002446", "NCIT:C26783", "UMLS:C3887640"], "information_content": 100.0}
{"id": "MONDO:0009115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital lactase deficiency", "equivalent_identifiers": ["MONDO:0009115", "DOID:0111646", "OMIM:223000", "orphanet:53690", "UMLS:C0268179", "MESH:C562600", "MEDDRA:10086148", "SNOMEDCT:5388008", "medgen:120617", "icd11.foundation:2109252471", "ICD10:E73.0"], "information_content": 100.0}
{"id": "HP:0025130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased small intestinal mucosa lactase level", "equivalent_identifiers": ["HP:0025130", "UMLS:C4476604"], "information_content": 100.0}
{"id": "MONDO:0100345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lactose intolerance", "equivalent_identifiers": ["MONDO:0100345", "DOID:10604", "EFO:1000062", "UMLS:C0022951", "UMLS:C4721810", "MESH:D007787", "MEDDRA:10001545", "MEDDRA:10023681", "NCIT:C3154", "SNOMEDCT:267425008", "SNOMEDCT:700094005", "SNOMEDCT:782415009", "medgen:6001", "icd11.foundation:1026224967", "ICD10:E73", "HP:0004789"], "information_content": 95.4}
{"id": "MONDO:0034054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CD70 Deficiency", "equivalent_identifiers": ["MONDO:0034054", "OMIM:618261", "orphanet:538958", "UMLS:C5568559", "NCIT:C168591", "SNOMEDCT:1186715006", "medgen:1799982"], "information_content": 100.0}
{"id": "MONDO:0016537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoproliferative syndrome", "equivalent_identifiers": ["MONDO:0016537", "DOID:0060704", "OMIM.PS:308240", "UMLS:C0024314", "MESH:D008232", "MEDDRA:10025351", "MEDDRA:10061232", "NCIT:C9308", "SNOMEDCT:277466009", "SNOMEDCT:414629003", "SNOMEDCT:84631004", "medgen:6162", "HP:0005523"], "information_content": 49.4}
{"id": "HP:0410297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of specific antibody response to tetanus vaccine", "equivalent_identifiers": ["HP:0410297", "UMLS:C5139460"], "information_content": 100.0}
{"id": "MONDO:0013768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial calcification, generalized, of infancy, 2", "equivalent_identifiers": ["MONDO:0013768", "OMIM:614473", "UMLS:C3276161", "medgen:477791"], "information_content": 100.0}
{"id": "MONDO:0800175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiogenic shock", "equivalent_identifiers": ["MONDO:0800175", "orphanet:97292", "UMLS:C0036980", "MESH:D012770", "MEDDRA:10007625", "MEDDRA:10040563", "NCIT:C50482", "SNOMEDCT:89138009", "medgen:48650", "icd11.foundation:1974956233", "HP:0030149"], "information_content": 86.3}
{"id": "HP:0030718", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right atrial enlargement", "equivalent_identifiers": ["HP:0030718", "UMLS:C0344709", "UMLS:C0748427", "MEDDRA:10058227", "MEDDRA:10067282", "SNOMEDCT:67751000119106"], "information_content": 89.4}
{"id": "HP:0011703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sinus tachycardia", "equivalent_identifiers": ["HP:0011703", "NCIT:C26889", "UMLS:C0039239", "MEDDRA:10040752", "MEDDRA:10043083", "SNOMEDCT:11092001", "MESH:D013616"], "information_content": 95.4}
{"id": "HP:0003207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arterial calcification", "equivalent_identifiers": ["HP:0003207", "UMLS:C1168153", "MEDDRA:10059123"], "information_content": 77.6}
{"id": "MONDO:0011137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 19", "equivalent_identifiers": ["MONDO:0011137", "DOID:0110354", "OMIM:601718", "UMLS:C1866422", "MESH:C566637", "medgen:400996"], "information_content": 100.0}
{"id": "HP:0007722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal pigment epithelial atrophy", "equivalent_identifiers": ["HP:0007722", "UMLS:C1840457"], "information_content": 95.4}
{"id": "MONDO:0030930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without early-onset generalized epilepsy", "equivalent_identifiers": ["MONDO:0030930", "OMIM:619157", "UMLS:C5436914", "medgen:1737097"], "information_content": 100.0}
{"id": "MONDO:0005296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sleep apnea", "equivalent_identifiers": ["MONDO:0005296", "DOID:0050847", "EFO:0003877", "UMLS:C0037315", "UMLS:C0236845", "UMLS:C4551689", "MESH:D012891", "MEDDRA:10006344", "MEDDRA:10040975", "MEDDRA:10040976", "MEDDRA:10040977", "MEDDRA:10040978", "MEDDRA:10040979", "MEDDRA:10040980", "MEDDRA:10053654", "MEDDRA:10055575", "NCIT:C148023", "NCIT:C26884", "SNOMEDCT:111489007", "SNOMEDCT:73430006", "medgen:11458", "ICD10:G47.3", "ICD9:780.57", "HP:0010535"], "information_content": 83.1}
{"id": "MONDO:0032632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 28", "equivalent_identifiers": ["MONDO:0032632", "DOID:0112095", "OMIM:618249", "UMLS:C4748827", "medgen:1648493"], "information_content": 100.0}
{"id": "HP:0002304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Akinesia", "equivalent_identifiers": ["HP:0002304", "NCIT:C116923", "UMLS:C0085623", "MEDDRA:10001541", "SNOMEDCT:33994004"], "information_content": 92.8}
{"id": "MONDO:0010876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive aplasia cutis congenita of limbs", "equivalent_identifiers": ["MONDO:0010876", "OMIM:600360", "UMLS:C1838206", "MESH:C536840", "SNOMEDCT:723500009", "medgen:324970"], "information_content": 100.0}
{"id": "HP:0007506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital absence of skin of limbs", "equivalent_identifiers": ["HP:0007506", "UMLS:C4024858"], "information_content": 100.0}
{"id": "MONDO:0100435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schwartz-Jampel syndrome type 1", "equivalent_identifiers": ["MONDO:0100435", "DOID:0090005", "OMIM:255800", "UMLS:C4551479", "medgen:1647990"], "information_content": 100.0}
{"id": "HP:0006473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior bowing of long bones", "equivalent_identifiers": ["HP:0006473", "UMLS:C1850644"], "information_content": 100.0}
{"id": "HP:0002230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hirsutism", "equivalent_identifiers": ["HP:0002230", "UMLS:C1849211"], "information_content": 100.0}
{"id": "HP:0003044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder flexion contracture", "equivalent_identifiers": ["HP:0003044", "UMLS:C0409336", "SNOMEDCT:202265005"], "information_content": 100.0}
{"id": "HP:0002947", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical kyphosis", "equivalent_identifiers": ["HP:0002947", "UMLS:C0575170", "MEDDRA:10074813", "SNOMEDCT:298393001"], "information_content": 100.0}
{"id": "HP:0000205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pursed lips", "equivalent_identifiers": ["HP:0000205", "UMLS:C1832130"], "information_content": 95.4}
{"id": "HP:0003712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skeletal muscle hypertrophy", "equivalent_identifiers": ["HP:0003712", "UMLS:C2265792"], "information_content": 81.7}
{"id": "MONDO:0018493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia of anesthesia", "equivalent_identifiers": ["MONDO:0018493", "DOID:8545", "orphanet:423", "UMLS:C0024591", "UMLS:C5779784", "MESH:D008305", "MEDDRA:10016561", "MEDDRA:10020742", "MEDDRA:10020844", "MEDDRA:10025599", "MEDDRA:10025607", "NCIT:C84869", "SNOMEDCT:213026003", "SNOMEDCT:405501007", "medgen:9867", "ICD10:T88.3", "ICD9:995.86", "HP:0002047"], "information_content": 87.2}
{"id": "HP:0003731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quadriceps muscle weakness", "equivalent_identifiers": ["HP:0003731", "UMLS:C0577655", "SNOMEDCT:300948004"], "information_content": 100.0}
{"id": "HP:0005830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexion contracture of toe", "equivalent_identifiers": ["HP:0005830", "UMLS:C1406835"], "information_content": 79.6}
{"id": "HP:0010548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Percussion myotonia", "equivalent_identifiers": ["HP:0010548", "UMLS:C0751359"], "information_content": 92.8}
{"id": "HP:0011120", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Saddle nose", "equivalent_identifiers": ["HP:0011120", "UMLS:C0264169", "SNOMEDCT:710234009"], "information_content": 100.0}
{"id": "HP:0007740", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long eyelashes in irregular rows", "equivalent_identifiers": ["HP:0007740", "UMLS:C1850640"], "information_content": 100.0}
{"id": "HP:0006499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal femoral epiphysis morphology", "equivalent_identifiers": ["HP:0006499", "UMLS:C4025034"], "information_content": 76.4}
{"id": "HP:0001621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weak voice", "equivalent_identifiers": ["HP:0001621", "NCIT:C116339", "UMLS:C0241700", "UMLS:C0521007", "MEDDRA:10069366", "SNOMEDCT:34527004", "SNOMEDCT:8614008"], "information_content": 100.0}
{"id": "HP:0001620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally high-pitched voice", "equivalent_identifiers": ["HP:0001620", "UMLS:C0241703", "UMLS:C5974054", "SNOMEDCT:51406002"], "information_content": 100.0}
{"id": "HP:0100284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: myotonic discharges", "equivalent_identifiers": ["HP:0100284", "UMLS:C4022169"], "information_content": 100.0}
{"id": "HP:0003417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coronal cleft vertebrae", "equivalent_identifiers": ["HP:0003417", "UMLS:C1834954"], "information_content": 100.0}
{"id": "MONDO:0011710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific language impairment 1", "equivalent_identifiers": ["MONDO:0011710", "OMIM:606711", "UMLS:C1847614", "medgen:339804"], "information_content": 100.0}
{"id": "HP:0002526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deficit in nonword repetition", "equivalent_identifiers": ["HP:0002526", "UMLS:C4025702"], "information_content": 100.0}
{"id": "HP:0002549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deficit in phonologic short-term memory", "equivalent_identifiers": ["HP:0002549", "UMLS:C1847609"], "information_content": 100.0}
{"id": "MONDO:0014669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 21", "equivalent_identifiers": ["MONDO:0014669", "DOID:0081447", "OMIM:616502", "UMLS:C4049066", "medgen:891534", "HP:0030635"], "information_content": 100.0}
{"id": "MONDO:0009045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crome syndrome", "equivalent_identifiers": ["MONDO:0009045", "OMIM:218900", "orphanet:1380", "UMLS:C0795914", "MESH:C536216", "SNOMEDCT:722381004", "medgen:167082"], "information_content": 100.0}
{"id": "MONDO:0006637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute kidney tubular necrosis", "equivalent_identifiers": ["MONDO:0006637", "DOID:12556", "EFO:1000794", "UMLS:C0022672", "MESH:D007683", "MEDDRA:10001099", "MEDDRA:10024963", "MEDDRA:10029162", "MEDDRA:10038541", "NCIT:C34749", "SNOMEDCT:35455006", "medgen:7213", "ICD10:N17.0", "HP:0008682"], "information_content": 100.0}
{"id": "MONDO:0012108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, matrilin-3 type", "equivalent_identifiers": ["MONDO:0012108", "OMIM:608728", "orphanet:156728", "UMLS:C1837481", "MESH:C563869", "SNOMEDCT:719166003", "medgen:325181", "icd11.foundation:1983063881"], "information_content": 100.0}
{"id": "HP:0003375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow greater sciatic notch", "equivalent_identifiers": ["HP:0003375", "UMLS:C0566888", "SNOMEDCT:289457006"], "information_content": 100.0}
{"id": "HP:0005054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal spurs", "equivalent_identifiers": ["HP:0005054", "UMLS:C1832988"], "information_content": 92.8}
{"id": "HP:0003173", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic pubic bone", "equivalent_identifiers": ["HP:0003173", "UMLS:C1865030"], "information_content": 88.2}
{"id": "HP:0010585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small epiphyses", "equivalent_identifiers": ["HP:0010585", "UMLS:C1846803"], "information_content": 73.9}
{"id": "HP:0008794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic iliac wing", "equivalent_identifiers": ["HP:0008794", "UMLS:C1837487"], "information_content": 100.0}
{"id": "MONDO:0100510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0100510", "DOID:0080027", "UMLS:C0432211", "SNOMEDCT:254062008", "medgen:609408", "HP:0002651"], "information_content": 76.7}
{"id": "HP:0010582", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular epiphyses", "equivalent_identifiers": ["HP:0010582", "UMLS:C1846449"], "information_content": 73.4}
{"id": "HP:0000922", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior rib cupping", "equivalent_identifiers": ["HP:0000922", "UMLS:C1837483"], "information_content": 100.0}
{"id": "MONDO:0011708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 36", "equivalent_identifiers": ["MONDO:0011708", "DOID:0110563", "OMIM:606705", "UMLS:C1847626", "MESH:C564675", "NCIT:C174444", "medgen:376173"], "information_content": 100.0}
{"id": "MONDO:0014676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "equivalent_identifiers": ["MONDO:0014676", "DOID:0070248", "OMIM:616516", "UMLS:C2750034", "UMLS:C2750035", "MESH:C567633", "medgen:413212"], "information_content": 100.0}
{"id": "MONDO:0030877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardioacrofacial dysplasia 2", "equivalent_identifiers": ["MONDO:0030877", "OMIM:619143", "UMLS:C5436886", "medgen:1731253"], "information_content": 100.0}
{"id": "HP:0005274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent nasal tip", "equivalent_identifiers": ["HP:0005274", "UMLS:C1856118", "UMLS:C4280498", "UMLS:C4280499", "UMLS:C4280500"], "information_content": 100.0}
{"id": "HP:0005001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent patellar dislocation", "equivalent_identifiers": ["HP:0005001", "UMLS:C0409412", "MEDDRA:10038125", "SNOMEDCT:202246002"], "information_content": 100.0}
{"id": "HP:0011565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Common atrium", "equivalent_identifiers": ["HP:0011565", "UMLS:C0392482", "MEDDRA:10083205", "SNOMEDCT:253276007"], "information_content": 100.0}
{"id": "HP:0011670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left superior vena cava draining to coronary sinus", "equivalent_identifiers": ["HP:0011670", "UMLS:C2677768"], "information_content": 100.0}
{"id": "MONDO:0014560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1F", "equivalent_identifiers": ["MONDO:0014560", "DOID:0110065", "OMIM:616270", "UMLS:C4225394", "medgen:898597"], "information_content": 100.0}
{"id": "HP:0011073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of dental color", "equivalent_identifiers": ["HP:0011073", "UMLS:C4023551"], "information_content": 84.2}
{"id": "MONDO:0019507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta", "equivalent_identifiers": ["MONDO:0019507", "DOID:2187", "OMIM.PS:104500", "orphanet:88661", "UMLS:C0002452", "MESH:D000567", "MEDDRA:10081678", "SNOMEDCT:78494001", "medgen:240", "icd11.foundation:1923123066", "HP:0000705"], "information_content": 79.0}
{"id": "MONDO:0008021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 1", "equivalent_identifiers": ["MONDO:0008021", "OMIM:158350", "UMLS:C1834711", "UMLS:C1834712", "UMLS:C1866376", "UMLS:C1866398", "MESH:C563564", "MESH:C563565", "MESH:C566636", "NCIT:C179930", "SNOMEDCT:716862002"], "information_content": 100.0}
{"id": "MONDO:0007655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fissured tongue", "equivalent_identifiers": ["MONDO:0007655", "DOID:11514", "OMIM:137400", "UMLS:C0040412", "UMLS:C4540616", "MESH:D014063", "MEDDRA:10035630", "MEDDRA:10072002", "MEDDRA:10072003", "MEDDRA:10086802", "SNOMEDCT:52368004", "medgen:1624209", "icd11.foundation:699700094", "ICD10:K14.5", "ICD9:529.5", "HP:0000221"], "information_content": 95.4}
{"id": "HP:0200016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrokeratosis", "equivalent_identifiers": ["HP:0200016", "UMLS:C0001202", "SNOMEDCT:46629009"], "information_content": 100.0}
{"id": "HP:0001031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcutaneous lipoma", "equivalent_identifiers": ["HP:0001031", "UMLS:C1403035", "SNOMEDCT:762396004"], "information_content": 95.4}
{"id": "HP:0004481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive macrocephaly", "equivalent_identifiers": ["HP:0004481", "UMLS:C1859896"], "information_content": 100.0}
{"id": "MONDO:0001498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "varicocele", "equivalent_identifiers": ["MONDO:0001498", "DOID:12337", "UMLS:C0042341", "MESH:D014646", "MEDDRA:10033566", "MEDDRA:10039761", "MEDDRA:10039762", "MEDDRA:10046986", "MEDDRA:10046992", "SNOMEDCT:46871008", "SNOMEDCT:51070004", "medgen:22619", "ICD10:I86.1", "ICD9:456.4", "HP:0012871"], "information_content": 100.0}
{"id": "MONDO:0004425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperthyroidism", "equivalent_identifiers": ["MONDO:0004425", "DOID:7998", "EFO:0009189", "UMLS:C0020550", "UMLS:C3714618", "MESH:D006980", "MEDDRA:10020850", "MEDDRA:10075899", "MEDDRA:10088422", "NCIT:C113145", "NCIT:C3123", "SNOMEDCT:34486009", "medgen:6972", "HP:0000836"], "information_content": 79.3}
{"id": "MONDO:0004126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroiditis", "equivalent_identifiers": ["MONDO:0004126", "DOID:7166", "UMLS:C0040147", "MESH:D013966", "MEDDRA:10043778", "MEDDRA:10043783", "MEDDRA:10043785", "NCIT:C26894", "SNOMEDCT:82119001", "medgen:21548", "icd11.foundation:587793334", "ICD10:E06", "ICD9:245", "HP:0100646"], "information_content": 79.0}
{"id": "MONDO:0016642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningioma", "equivalent_identifiers": ["MONDO:0016642", "DOID:3565", "orphanet:2495", "UMLS:C0025286", "UMLS:C5139648", "MESH:D008579", "MEDDRA:10027191", "NCIT:C3230", "medgen:7532", "icd11.foundation:672106711", "ICD10:D32.9", "HP:0002858"], "information_content": 68.7}
{"id": "HP:0000854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyroid adenoma", "equivalent_identifiers": ["HP:0000854", "UMLS:C5848090", "MEDDRA:10001237", "MEDDRA:10043688", "MEDDRA:10043690"], "information_content": 87.2}
{"id": "MONDO:0005140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian carcinoma", "equivalent_identifiers": ["MONDO:0005140", "DOID:4001", "EFO:0001075", "UMLS:C0677886", "UMLS:C4721610", "MESH:D000077216", "NCIT:C4908", "medgen:1648335", "HP:0025318"], "information_content": 63.4}
{"id": "HP:0002597", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the vasculature", "equivalent_identifiers": ["HP:0002597", "UMLS:C0241657"], "information_content": 50.1}
{"id": "MONDO:0011782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioid streaks", "equivalent_identifiers": ["MONDO:0011782", "DOID:13401", "OMIM:607140", "EFO:1000805", "UMLS:C0002982", "MESH:D000793", "MEDDRA:10066191", "medgen:1541", "HP:0001102"], "information_content": 95.4}
{"id": "MONDO:0019002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lhermitte-Duclos disease", "equivalent_identifiers": ["MONDO:0019002", "orphanet:65285", "UMLS:C0391826", "NCIT:C8419", "SNOMEDCT:128791005", "SNOMEDCT:67944007", "medgen:140251", "HP:0500009"], "information_content": 90.9}
{"id": "HP:0002253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Colonic diverticula", "equivalent_identifiers": ["HP:0002253", "EFO:1001296", "NCIT:C34550", "NCIT:C34551", "UMLS:C0012811", "UMLS:C0012819", "MEDDRA:10009993", "MEDDRA:10013531", "SNOMEDCT:398050005", "SNOMEDCT:733657002", "MESH:D004241", "MESH:D043963"], "information_content": 100.0}
{"id": "MONDO:0002056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibroadenoma", "equivalent_identifiers": ["MONDO:0002056", "DOID:1618", "EFO:1000254", "UMLS:C0178421", "UMLS:C0206650", "UMLS:C0346158", "UMLS:C1333137", "MESH:D018226", "MEDDRA:10006276", "MEDDRA:10016613", "MEDDRA:10063384", "NCIT:C3744", "NCIT:C4276", "NCIT:C5194", "SNOMEDCT:1156873009", "SNOMEDCT:254845004", "SNOMEDCT:254847007", "SNOMEDCT:46212000", "medgen:64231", "ICD10:D24", "HP:0010619"], "information_content": 86.3}
{"id": "MONDO:0006474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transitional cell carcinoma", "equivalent_identifiers": ["MONDO:0006474", "DOID:2671", "EFO:1000601", "UMLS:C0007138", "UMLS:C0279680", "MESH:D002295", "MEDDRA:10005084", "MEDDRA:10007477", "MEDDRA:10044412", "MEDDRA:10046714", "NCIT:C2930", "SNOMEDCT:255109008", "SNOMEDCT:27090000", "medgen:2875", "HP:0006740"], "information_content": 64.7}
{"id": "MONDO:0009480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arima syndrome", "equivalent_identifiers": ["MONDO:0009480", "OMIM:243910", "orphanet:2318", "UMLS:C1855675", "MESH:C537430", "SNOMEDCT:721862000", "medgen:340930", "icd11.foundation:397835469"], "information_content": 88.2}
{"id": "HP:0005576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tubulointerstitial fibrosis", "equivalent_identifiers": ["HP:0005576", "UMLS:C1969372", "UMLS:C4476544"], "information_content": 100.0}
{"id": "HP:0012606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal sodium wasting", "equivalent_identifiers": ["HP:0012606", "UMLS:C2748576"], "information_content": 100.0}
{"id": "HP:0002419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Molar tooth sign on MRI", "equivalent_identifiers": ["HP:0002419", "UMLS:C1865060"], "information_content": 100.0}
{"id": "HP:0002198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilated fourth ventricle", "equivalent_identifiers": ["HP:0002198", "UMLS:C1847117"], "information_content": 92.8}
{"id": "HP:0000092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tubular atrophy", "equivalent_identifiers": ["HP:0000092", "UMLS:C1858395", "MEDDRA:10038536"], "information_content": 89.4}
{"id": "HP:0002508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brainstem dysplasia", "equivalent_identifiers": ["HP:0002508", "UMLS:C1855677"], "information_content": 100.0}
{"id": "HP:0000108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal corticomedullary cysts", "equivalent_identifiers": ["HP:0000108", "UMLS:C1968619"], "information_content": 100.0}
{"id": "MONDO:0007271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cutaneous collagenoma", "equivalent_identifiers": ["MONDO:0007271", "OMIM:115250", "orphanet:53296", "UMLS:C0406817", "MESH:C562925", "SNOMEDCT:239139000", "medgen:96073", "icd11.foundation:982220551"], "information_content": 100.0}
{"id": "HP:6000022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Collagenoma", "equivalent_identifiers": ["HP:6000022", "UMLS:C0265978", "SNOMEDCT:399926001"], "information_content": 100.0}
{"id": "MONDO:0005758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eunuchism", "equivalent_identifiers": ["MONDO:0005758", "DOID:5003", "EFO:0007266", "UMLS:C0238117", "UMLS:C1384582", "MESH:D005058", "MEDDRA:10036734", "MEDDRA:10043318", "NCIT:C131195", "SNOMEDCT:267403002", "SNOMEDCT:370997001", "medgen:65949", "HP:0008720"], "information_content": 100.0}
{"id": "HP:0011663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right ventricular cardiomyopathy", "equivalent_identifiers": ["HP:0011663", "UMLS:C2063326"], "information_content": 100.0}
{"id": "HP:0007534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital posterior occipital alopecia", "equivalent_identifiers": ["HP:0007534", "UMLS:C4024850"], "information_content": 100.0}
{"id": "MONDO:0013216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 9", "equivalent_identifiers": ["MONDO:0013216", "DOID:0111884", "OMIM:613308", "UMLS:C2750081", "MESH:C567650", "NCIT:C176918", "medgen:412874"], "information_content": 100.0}
{"id": "MONDO:0012784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive ataxia due to ubiquinone deficiency", "equivalent_identifiers": ["MONDO:0012784", "DOID:0070241", "OMIM:612016", "orphanet:139485", "UMLS:C2677589", "MESH:C567436", "SNOMEDCT:725394006", "medgen:436985"], "information_content": 100.0}
{"id": "HP:0032653", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated lactate:pyruvate ratio", "equivalent_identifiers": ["HP:0032653", "UMLS:C5397670"], "information_content": 100.0}
{"id": "HP:0012847", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epilepsia partialis continua", "equivalent_identifiers": ["HP:0012847", "EFO:1000924", "UMLS:C0085543", "MEDDRA:10015034", "SNOMEDCT:241006", "MESH:D017036"], "information_content": 100.0}
{"id": "HP:0010818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized tonic seizure", "equivalent_identifiers": ["HP:0010818", "UMLS:C1836508", "SNOMEDCT:1208969008"], "information_content": 100.0}
{"id": "HP:0012240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased intramyocellular lipid droplets", "equivalent_identifiers": ["HP:0012240", "UMLS:C4020730"], "information_content": 100.0}
{"id": "MONDO:0014344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 4", "equivalent_identifiers": ["MONDO:0014344", "OMIM:615779", "UMLS:C4014310", "medgen:862747"], "information_content": 100.0}
{"id": "MONDO:0004933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplastic left heart syndrome", "equivalent_identifiers": ["MONDO:0004933", "DOID:9955", "OMIM.PS:241550", "orphanet:2248", "UMLS:C0152101", "UMLS:C0344906", "MESH:D018636", "MEDDRA:10021076", "NCIT:C98894", "SNOMEDCT:253536001", "SNOMEDCT:62067003", "medgen:57746", "icd11.foundation:1811800027", "ICD10:Q23.4", "ICD9:746.7", "HP:0004383"], "information_content": 90.9}
{"id": "MONDO:0008613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tuftsin deficiency", "equivalent_identifiers": ["MONDO:0008613", "OMIM:191150", "UMLS:C0398741", "MESH:C562872", "SNOMEDCT:234584007", "medgen:98311"], "information_content": 100.0}
{"id": "MONDO:0009372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy due to hydroxykynureninuria", "equivalent_identifiers": ["MONDO:0009372", "DOID:0112257", "OMIM:236800", "orphanet:79155", "UMLS:C0268474", "MESH:C536081", "SNOMEDCT:17820009", "SNOMEDCT:33116002", "SNOMEDCT:72945002", "medgen:78681", "icd11.foundation:1145853843"], "information_content": 100.0}
{"id": "HP:6000121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary xanthurenic acid level", "equivalent_identifiers": ["HP:6000121", "UMLS:C5936976"], "information_content": 100.0}
{"id": "HP:6000265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 3-hydroxykynurenine level", "equivalent_identifiers": ["HP:6000265", "UMLS:C5937080"], "information_content": 100.0}
{"id": "MONDO:0012612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 12", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012612", "DOID:0081180", "OMIM:611090", "UMLS:C1970200", "MESH:C567019", "medgen:370850"], "information_content": 100.0}
{"id": "MONDO:0025356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "azoospermia, obstructive, with nephrolithiasis", "equivalent_identifiers": ["MONDO:0025356", "OMIM:301060", "UMLS:C5542351", "medgen:1779119"], "information_content": 100.0}
{"id": "HP:0033808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spermatocele", "equivalent_identifiers": ["HP:0033808"], "information_content": 100.0}
{"id": "HP:0011962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Obstructive azoospermia", "equivalent_identifiers": ["HP:0011962", "UMLS:C4023106"], "information_content": 100.0}
{"id": "MONDO:0014492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wooly hair-palmoplantar keratoderma syndrome", "equivalent_identifiers": ["MONDO:0014492", "DOID:0070554", "OMIM:616099", "orphanet:420686", "UMLS:C4015202", "UMLS:C4706686", "SNOMEDCT:764108000", "medgen:863639"], "information_content": 100.0}
{"id": "HP:0009775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amniotic Band", "equivalent_identifiers": ["HP:0009775", "NCIT:C124494", "UMLS:C0334166", "UMLS:C1527388", "SNOMEDCT:19988008", "SNOMEDCT:238879003", "SNOMEDCT:707254000", "MESH:C535821"], "information_content": 90.9}
{"id": "HP:0001820", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leukonychia", "equivalent_identifiers": ["HP:0001820", "NCIT:C112815", "UMLS:C0240182", "MEDDRA:10050658", "SNOMEDCT:111202002"], "information_content": 100.0}
{"id": "MONDO:0009495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keutel syndrome", "equivalent_identifiers": ["MONDO:0009495", "OMIM:245150", "orphanet:85202", "UMLS:C1855607", "MESH:C536167", "SNOMEDCT:724208006", "medgen:383722", "icd11.foundation:1083151379"], "information_content": 100.0}
{"id": "HP:0005275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cartilaginous ossification of nose", "equivalent_identifiers": ["HP:0005275", "UMLS:C1855616"], "information_content": 100.0}
{"id": "MONDO:0002267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obstructive lung disease", "equivalent_identifiers": ["MONDO:0002267", "DOID:2320", "UMLS:C0001883", "UMLS:C0600260", "MESH:D000402", "MESH:D008173", "MEDDRA:10001536", "MEDDRA:10001539", "MEDDRA:10013108", "MEDDRA:10025081", "MEDDRA:10029959", "MEDDRA:10029973", "MEDDRA:10061877", "NCIT:C50456", "SNOMEDCT:79688008", "medgen:1387", "HP:0006536"], "information_content": 80.2}
{"id": "HP:0006118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all distal phalanges of the fingers", "equivalent_identifiers": ["HP:0006118", "UMLS:C4021608"], "information_content": 100.0}
{"id": "HP:0005103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcification of the auricular cartilage", "equivalent_identifiers": ["HP:0005103", "UMLS:C1408806"], "information_content": 100.0}
{"id": "MONDO:0020419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary artery hypoplasia", "equivalent_identifiers": ["MONDO:0020419", "orphanet:99083", "UMLS:C0265910", "SNOMEDCT:54682008", "medgen:75585", "HP:0004971"], "information_content": 95.4}
{"id": "MONDO:0004849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "emphysema", "equivalent_identifiers": ["MONDO:0004849", "DOID:9675", "EFO:0000464", "UMLS:C0013990", "UMLS:C0029607", "UMLS:C0034067", "MESH:D004646", "MESH:D011656", "MEDDRA:10014561", "MEDDRA:10014563", "MEDDRA:10086064", "NCIT:C196764", "NCIT:C3348", "SNOMEDCT:49158009", "SNOMEDCT:87433001", "medgen:18764", "ICD10:J43.8", "ICD9:492.8", "HP:0002097"], "information_content": 86.3}
{"id": "HP:0006140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature fusion of phalangeal epiphyses", "equivalent_identifiers": ["HP:0006140", "UMLS:C1855620"], "information_content": 100.0}
{"id": "MONDO:0005961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sinusitis", "equivalent_identifiers": ["MONDO:0005961", "DOID:0050127", "EFO:0007486", "UMLS:C0037199", "MESH:D012852", "MEDDRA:10040745", "MEDDRA:10040753", "MEDDRA:10040756", "MEDDRA:10078707", "NCIT:C35024", "SNOMEDCT:36971009", "medgen:20772", "ICD10:J01", "ICD9:461", "HP:0000246"], "information_content": 82.6}
{"id": "HP:0008747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cartilaginous ossification of larynx", "equivalent_identifiers": ["HP:0008747", "UMLS:C1855622"], "information_content": 100.0}
{"id": "HP:0006646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Costal cartilage calcification", "equivalent_identifiers": ["HP:0006646", "UMLS:C1855608"], "information_content": 100.0}
{"id": "MONDO:0001911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheal calcification", "equivalent_identifiers": ["MONDO:0001911", "DOID:14224", "UMLS:C0264324", "MEDDRA:10051880", "NCIT:C35314", "SNOMEDCT:81089005", "medgen:75539", "HP:0002787"], "information_content": 100.0}
{"id": "MONDO:0008818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial tortuosity syndrome", "equivalent_identifiers": ["MONDO:0008818", "DOID:0050645", "OMIM:208050", "orphanet:3342", "UMLS:C1859726", "MESH:C565942", "MEDDRA:10080250", "SNOMEDCT:458432002", "medgen:347942", "icd11.foundation:371764699"], "information_content": 100.0}
{"id": "MONDO:0015486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus", "equivalent_identifiers": ["MONDO:0015486", "DOID:10126", "OMIM.PS:148300", "UMLS:C0022578", "MESH:D007640", "MEDDRA:10023353", "MEDDRA:10023356", "NCIT:C26806", "SNOMEDCT:65636009", "medgen:44015", "icd11.foundation:945228622", "ICD10:H18.6", "ICD9:371.6", "HP:0000563"], "information_content": 83.6}
{"id": "HP:0004955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized arterial tortuosity", "equivalent_identifiers": ["HP:0004955", "UMLS:C1836651"], "information_content": 100.0}
{"id": "HP:0001977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thrombosis", "equivalent_identifiers": ["HP:0001977", "UMLS:C4025731"], "information_content": 76.2}
{"id": "HP:0000963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin skin", "equivalent_identifiers": ["HP:0000963", "UMLS:C0423757", "MEDDRA:10040937", "MEDDRA:10040938", "SNOMEDCT:277797007"], "information_content": 100.0}
{"id": "HP:0007421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Telangiectases of the cheeks", "equivalent_identifiers": ["HP:0007421", "UMLS:C3554587"], "information_content": 100.0}
{"id": "HP:0000977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Soft skin", "equivalent_identifiers": ["HP:0000977", "UMLS:C0241178", "UMLS:C1844592"], "information_content": 95.4}
{"id": "HP:0001027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Soft, doughy skin", "equivalent_identifiers": ["HP:0001027", "UMLS:C1849043"], "information_content": 100.0}
{"id": "MONDO:0016175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa", "equivalent_identifiers": ["MONDO:0016175", "DOID:3144", "orphanet:209", "UMLS:C0010495", "UMLS:C0268366", "UMLS:C2930812", "UMLS:C4280606", "MESH:C531660", "MESH:D003483", "MEDDRA:10011692", "MEDDRA:10012500", "MEDDRA:10057064", "NCIT:C84663", "SNOMEDCT:58588007", "medgen:8206", "icd11.foundation:1227401566", "HP:0000973"], "information_content": 78.3}
{"id": "MONDO:0004763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carotid artery dissection", "equivalent_identifiers": ["MONDO:0004763", "DOID:9348", "UMLS:C0338585", "MEDDRA:10050403", "NCIT:C125662", "SNOMEDCT:720626009", "medgen:488844", "ICD10:I77.71", "ICD9:443.21", "HP:0012158"], "information_content": 88.2}
{"id": "HP:0006687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortic tortuosity", "equivalent_identifiers": ["HP:0006687", "UMLS:C4025003"], "information_content": 100.0}
{"id": "MONDO:0013924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 13", "equivalent_identifiers": ["MONDO:0013924", "DOID:0110342", "OMIM:614856", "UMLS:C3553887", "medgen:766801"], "information_content": 100.0}
{"id": "MONDO:0002933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerosis", "equivalent_identifiers": ["MONDO:0002933", "DOID:4254", "UMLS:C0029464", "MESH:D010026", "MEDDRA:10031298", "NCIT:C41236", "SNOMEDCT:49347007", "medgen:10502", "icd11.foundation:2061303143", "HP:0011001"], "information_content": 63.5}
{"id": "HP:0100625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged thorax", "equivalent_identifiers": ["HP:0100625", "UMLS:C4020962"], "information_content": 87.2}
{"id": "HP:0003863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angulated humerus", "equivalent_identifiers": ["HP:0003863", "UMLS:C4025546"], "information_content": 100.0}
{"id": "HP:0003083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dislocated radial head", "equivalent_identifiers": ["HP:0003083", "UMLS:C0265563", "SNOMEDCT:9634000"], "information_content": 85.5}
{"id": "MONDO:0000022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bedwetting", "equivalent_identifiers": ["MONDO:0000022", "UMLS:C0270327", "MESH:D053206", "MEDDRA:10004197", "MEDDRA:10029453", "NCIT:C118172", "SNOMEDCT:8009008", "medgen:124355", "icd11.foundation:1048673005", "HP:0010677"], "information_content": 92.8}
{"id": "MONDO:0013915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 13 with or without anosmia", "equivalent_identifiers": ["MONDO:0013915", "DOID:0090073", "OMIM:614842", "UMLS:C3541462", "medgen:762090"], "information_content": 100.0}
{"id": "HP:0030341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating follicle stimulating hormone concentration", "equivalent_identifiers": ["HP:0030341", "UMLS:C4072889"], "information_content": 100.0}
{"id": "MONDO:0008299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior column ataxia", "equivalent_identifiers": ["MONDO:0008299", "OMIM:176250", "UMLS:C1867923", "MESH:C536342", "medgen:357379"], "information_content": 100.0}
{"id": "MONDO:0024770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2", "equivalent_identifiers": ["MONDO:0024770", "OMIM:301074", "orphanet:676125", "UMLS:C5575495", "medgen:1808082"], "information_content": 100.0}
{"id": "MONDO:0005001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic gastritis", "equivalent_identifiers": ["MONDO:0005001", "EFO:0000337", "UMLS:C0085695", "MEDDRA:10008882", "MEDDRA:10017864", "NCIT:C26929", "SNOMEDCT:8493009", "medgen:39089", "HP:0005231"], "information_content": 92.8}
{"id": "HP:0030374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased proportion of memory B cells", "equivalent_identifiers": ["HP:0030374", "UMLS:C4072913"], "information_content": 92.8}
{"id": "HP:0100827", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lymphocytosis", "equivalent_identifiers": ["HP:0100827", "UMLS:C0024282", "MEDDRA:10025280", "SNOMEDCT:67023009", "MESH:D008218"], "information_content": 100.0}
{"id": "HP:0030783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating interleukin 6 concentration", "equivalent_identifiers": ["HP:0030783", "UMLS:C4280771"], "information_content": 100.0}
{"id": "MONDO:0001409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophagitis", "equivalent_identifiers": ["MONDO:0001409", "DOID:11963", "UMLS:C0014868", "MESH:D004941", "MEDDRA:10015461", "MEDDRA:10015464", "MEDDRA:10030216", "MEDDRA:10030220", "MEDDRA:10072772", "MEDDRA:10082461", "MEDDRA:10082467", "NCIT:C9224", "SNOMEDCT:16761005", "medgen:4549", "ICD10:K20", "ICD9:530.1", "HP:0100633"], "information_content": 83.1}
{"id": "MONDO:0006547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exanthem", "equivalent_identifiers": ["MONDO:0006547", "DOID:0050486", "EFO:1000697", "UMLS:C0015230", "UMLS:C5779628", "UMLS:C5779629", "MESH:D005076", "MEDDRA:10015585", "MEDDRA:10015587", "MEDDRA:10037844", "MEDDRA:10037845", "MEDDRA:10037872", "MEDDRA:10040841", "MEDDRA:10040913", "MEDDRA:10058692", "NCIT:C111884", "NCIT:C39594", "SNOMEDCT:112625008", "SNOMEDCT:271807003", "medgen:8732", "ICD10:R21", "ICD9:782.1", "HP:0000988"], "information_content": 74.7}
{"id": "HP:0005218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anoperineal fistula", "equivalent_identifiers": ["HP:0005218", "UMLS:C0267561", "UMLS:C1835798", "MEDDRA:10068659", "SNOMEDCT:58103005"], "information_content": 100.0}
{"id": "MONDO:0044306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "equivalent_identifiers": ["MONDO:0044306", "OMIM:617393", "orphanet:500545", "UMLS:C4479333", "medgen:1377894"], "information_content": 100.0}
{"id": "HP:0031951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nocturnal seizures", "equivalent_identifiers": ["HP:0031951", "UMLS:C0393719"], "information_content": 100.0}
{"id": "MONDO:0010621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHILD syndrome", "equivalent_identifiers": ["MONDO:0010621", "DOID:0111822", "OMIM:308050", "orphanet:139", "UMLS:C0265267", "MESH:C562515", "MEDDRA:10081963", "MEDDRA:10081966", "SNOMEDCT:17608003", "medgen:82697"], "information_content": 100.0}
{"id": "HP:0005650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-5 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0005650", "UMLS:C4025165"], "information_content": 100.0}
{"id": "HP:0000835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal hypoplasia", "equivalent_identifiers": ["HP:0000835", "UMLS:C0342491", "UMLS:C1846223", "SNOMEDCT:237774001"], "information_content": 90.9}
{"id": "HP:0009429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009429", "UMLS:C4024368"], "information_content": 100.0}
{"id": "HP:0008417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral hypoplasia", "equivalent_identifiers": ["HP:0008417", "UMLS:C0345394", "SNOMEDCT:205456006"], "information_content": 83.6}
{"id": "HP:0008839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic pelvis", "equivalent_identifiers": ["HP:0008839", "UMLS:C3536734"], "information_content": 100.0}
{"id": "HP:0010760", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent toe", "equivalent_identifiers": ["HP:0010760", "UMLS:C3553754", "SNOMEDCT:1144671003"], "information_content": 71.9}
{"id": "HP:0007431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital ichthyosiform erythroderma", "equivalent_identifiers": ["HP:0007431", "UMLS:C0079583", "MEDDRA:10078291", "SNOMEDCT:254156001", "SNOMEDCT:268282005", "MESH:D016113"], "information_content": 92.8}
{"id": "HP:0009576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent middle phalanx of 2nd finger", "equivalent_identifiers": ["HP:0009576", "UMLS:C4021436"], "information_content": 100.0}
{"id": "HP:0008883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild intrauterine growth retardation", "equivalent_identifiers": ["HP:0008883", "UMLS:C1840006"], "information_content": 100.0}
{"id": "MONDO:0002078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart septal defect", "equivalent_identifiers": ["MONDO:0002078", "DOID:1681", "UMLS:C0018816", "UMLS:C0332915", "UMLS:C5779791", "MESH:D006343", "MEDDRA:10007605", "MEDDRA:10007607", "MEDDRA:10010396", "MEDDRA:10062326", "MEDDRA:10064021", "NCIT:C84482", "SNOMEDCT:1297035005", "SNOMEDCT:253273004", "SNOMEDCT:396351009", "SNOMEDCT:59494005", "medgen:6752", "ICD10:Q21.9", "HP:0001671"], "information_content": 69.8}
{"id": "MONDO:0004907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia", "equivalent_identifiers": ["MONDO:0004907", "DOID:987", "orphanet:79364", "UMLS:C0002170", "MESH:D000505", "MEDDRA:10001760", "MEDDRA:10001768", "MEDDRA:10001769", "MEDDRA:10004082", "MEDDRA:10019045", "MEDDRA:10019050", "NCIT:C50575", "SNOMEDCT:278040002", "SNOMEDCT:56317004", "medgen:7982", "icd11.foundation:1313926062", "ICD10:L65.9", "ICD9:704.0", "HP:0001596"], "information_content": 73.9}
{"id": "HP:0001750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single ventricle", "equivalent_identifiers": ["HP:0001750", "NCIT:C99542", "UMLS:C0152424", "MEDDRA:10040729", "MEDDRA:10045545", "SNOMEDCT:45503006"], "information_content": 87.2}
{"id": "MONDO:0019861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hypoplasia", "equivalent_identifiers": ["MONDO:0019861", "orphanet:95720", "UMLS:C0151516", "MEDDRA:10065938", "SNOMEDCT:367524008", "medgen:57720", "icd11.foundation:936952450", "HP:0005990"], "information_content": 95.4}
{"id": "HP:0009565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009565", "UMLS:C4021439"], "information_content": 100.0}
{"id": "MONDO:0008093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermal nevus", "equivalent_identifiers": ["MONDO:0008093", "DOID:0111162", "OMIM:162900", "EFO:0000625", "UMLS:C0334082", "UMLS:C4011754", "MESH:C580062", "MEDDRA:10014985", "MEDDRA:10062792", "NCIT:C4088", "SNOMEDCT:239107007", "SNOMEDCT:25201003", "medgen:83106", "HP:0010816"], "information_content": 89.4}
{"id": "HP:0003465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated 8(9)-cholestenol", "equivalent_identifiers": ["HP:0003465", "UMLS:C1840014"], "information_content": 100.0}
{"id": "HP:0003462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated 8-dehydrocholesterol", "equivalent_identifiers": ["HP:0003462", "UMLS:C1840013"], "information_content": 100.0}
{"id": "HP:0009438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent middle phalanx of 3rd finger", "equivalent_identifiers": ["HP:0009438", "UMLS:C4021475"], "information_content": 100.0}
{"id": "MONDO:0012349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis 3, autosomal recessive", "equivalent_identifiers": ["MONDO:0012349", "DOID:0112361", "OMIM:609813", "UMLS:C1853296", "medgen:377871"], "information_content": 100.0}
{"id": "HP:0004598", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supernumerary vertebral ossification centers", "equivalent_identifiers": ["HP:0004598", "UMLS:C4025309"], "information_content": 100.0}
{"id": "HP:0009540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the proximal interphalangeal joint of the 2nd finger", "equivalent_identifiers": ["HP:0009540", "UMLS:C4021451"], "information_content": 100.0}
{"id": "MONDO:0010109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities", "equivalent_identifiers": ["MONDO:0010109", "OMIM:273390", "UMLS:C2931214", "MESH:C536496", "medgen:444003"], "information_content": 100.0}
{"id": "MONDO:0017439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetra-amelia", "equivalent_identifiers": ["MONDO:0017439", "orphanet:294971", "UMLS:C2931216", "MESH:C536498", "SNOMEDCT:702313004", "medgen:444004", "HP:0003057"], "information_content": 100.0}
{"id": "HP:0007900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic lacrimal duct", "equivalent_identifiers": ["HP:0007900", "UMLS:C1968574"], "information_content": 100.0}
{"id": "MONDO:0008419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scoliosis, isolated, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0008419", "OMIM:181800", "UMLS:C2700406", "medgen:438003"], "information_content": 100.0}
{"id": "MONDO:0013370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 6", "equivalent_identifiers": ["MONDO:0013370", "DOID:0110648", "OMIM:613693", "UMLS:C3150953", "UMLS:C3150954", "UMLS:C3276241", "MESH:C566333", "medgen:462303"], "information_content": 100.0}
{"id": "MONDO:0010320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 23", "equivalent_identifiers": ["MONDO:0010320", "DOID:0110412", "OMIM:300424", "UMLS:C1419610", "medgen:238456"], "information_content": 100.0}
{"id": "HP:0025573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild myopia", "equivalent_identifiers": ["HP:0025573", "UMLS:C1840455"], "information_content": 100.0}
{"id": "MONDO:0001703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "color blindness", "equivalent_identifiers": ["MONDO:0001703", "DOID:13399", "orphanet:98658", "UMLS:C0009398", "UMLS:C0234629", "UMLS:C0242225", "UMLS:C3552853", "UMLS:C4229565", "UMLS:C5681659", "MESH:D003117", "MEDDRA:10005172", "MEDDRA:10005173", "MEDDRA:10010016", "MEDDRA:10010017", "MEDDRA:10010050", "MEDDRA:10010052", "MEDDRA:10012122", "MEDDRA:10055520", "NCIT:C3891", "SNOMEDCT:193683001", "SNOMEDCT:23289000", "SNOMEDCT:367469000", "medgen:1826147", "ICD10:H53.5", "ICD9:368.5", "HP:0000551"], "information_content": 80.9}
{"id": "HP:0001141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severely reduced visual acuity", "equivalent_identifiers": ["HP:0001141", "UMLS:C1301509", "SNOMEDCT:397541004"], "information_content": 100.0}
{"id": "HP:0025549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eccentric visual fixation", "equivalent_identifiers": ["HP:0025549", "UMLS:C0262461", "MEDDRA:10070917"], "information_content": 90.9}
{"id": "MONDO:0013470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus, type 7", "equivalent_identifiers": ["MONDO:0013470", "DOID:0111295", "OMIM:613863", "UMLS:C2751778", "MESH:C567827", "medgen:416630"], "information_content": 100.0}
{"id": "MONDO:0011621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acropectoral syndrome", "equivalent_identifiers": ["MONDO:0011621", "OMIM:605967", "orphanet:85203", "UMLS:C1853812", "MESH:C535664", "SNOMEDCT:720412009", "medgen:342975", "icd11.foundation:1060723089"], "information_content": 100.0}
{"id": "MONDO:0017425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preaxial polydactyly of fingers", "equivalent_identifiers": ["MONDO:0017425", "OMIM.PS:174400", "UMLS:C0345354", "MEDDRA:10089192", "MEDDRA:10089196", "SNOMEDCT:205135003", "medgen:87498", "icd11.foundation:1066753144", "HP:0100258"], "information_content": 82.6}
{"id": "MONDO:0010651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Menkes disease", "equivalent_identifiers": ["MONDO:0010651", "DOID:1838", "OMIM:309400", "orphanet:565", "UMLS:C0022716", "MESH:D007706", "MEDDRA:10023452", "MEDDRA:10027292", "MEDDRA:10027293", "MEDDRA:10027294", "NCIT:C75486", "SNOMEDCT:59178007", "medgen:44030", "icd11.foundation:986728180"], "information_content": 100.0}
{"id": "MONDO:0030313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10", "equivalent_identifiers": ["MONDO:0030313", "OMIM:619396", "UMLS:C5543600", "medgen:1782836"], "information_content": 100.0}
{"id": "MONDO:0012521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes simplex encephalitis", "equivalent_identifiers": ["MONDO:0012521", "orphanet:1930", "UMLS:C0276226", "MESH:D020803", "MEDDRA:10014590", "MEDDRA:10019953", "NCIT:C84762", "SNOMEDCT:428638009", "medgen:75794", "icd11.foundation:320069644", "HP:0012302"], "information_content": 100.0}
{"id": "MONDO:0060759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "equivalent_identifiers": ["MONDO:0060759", "DOID:0081327", "OMIM:618088", "orphanet:597623", "UMLS:C4748127", "medgen:1648345"], "information_content": 100.0}
{"id": "HP:0002371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of speech", "equivalent_identifiers": ["HP:0002371", "UMLS:C0542223", "MEDDRA:10041470"], "information_content": 100.0}
{"id": "MONDO:0958183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber-like hereditary optic neuropathy, autosomal recessive 1", "equivalent_identifiers": ["MONDO:0958183", "OMIM:619382"], "information_content": 100.0}
{"id": "HP:0020120", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal nerve fiber edema", "equivalent_identifiers": ["HP:0020120", "UMLS:C5209223"], "information_content": 100.0}
{"id": "MONDO:0004348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal telangiectasia", "equivalent_identifiers": ["MONDO:0004348", "DOID:7736", "UMLS:C0154835", "MEDDRA:10038899", "SNOMEDCT:84884003", "medgen:57598", "ICD9:362.15", "HP:0007763"], "information_content": 95.4}
{"id": "MONDO:0009408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase", "equivalent_identifiers": ["MONDO:0009408", "OMIM:240000", "UMLS:C1855884", "MESH:C565489", "medgen:383794"], "information_content": 100.0}
{"id": "HP:0000522", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alacrima", "equivalent_identifiers": ["HP:0000522", "UMLS:C0344505", "SNOMEDCT:253215004", "MESH:C562827"], "information_content": 100.0}
{"id": "MONDO:0013478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PLIN1-related familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0013478", "DOID:0070205", "OMIM:613877", "orphanet:280356", "UMLS:C5191005", "SNOMEDCT:783616005", "medgen:1675945"], "information_content": 100.0}
{"id": "HP:0100578", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lipoatrophy", "equivalent_identifiers": ["HP:0100578", "UMLS:C1280433", "MEDDRA:10024604", "SNOMEDCT:248315005"], "information_content": 100.0}
{"id": "HP:0000855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Insulin resistance", "equivalent_identifiers": ["HP:0000855", "EFO:0002614", "NCIT:C113101", "UMLS:C0021655", "MEDDRA:10022489", "MP:0005331", "SNOMEDCT:48606007", "SNOMEDCT:763325000", "MESH:D007333"], "information_content": 82.6}
{"id": "HP:0000876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oligomenorrhea", "equivalent_identifiers": ["HP:0000876", "NCIT:C113341", "UMLS:C0028949", "MEDDRA:10030294", "MEDDRA:10030295", "MEDDRA:10030296", "MEDDRA:10080629", "MEDDRA:10086371", "MEDDRA:10086375", "SNOMEDCT:52073004", "MESH:D009839"], "information_content": 100.0}
{"id": "MONDO:0006573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy", "equivalent_identifiers": ["MONDO:0006573", "DOID:811", "EFO:1000727", "UMLS:C0023787", "MESH:D008060", "MEDDRA:10024606", "MEDDRA:10024608", "NCIT:C97093", "SNOMEDCT:71325002", "medgen:6111", "ICD9:272.6", "HP:0009125"], "information_content": 73.9}
{"id": "HP:0000831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Insulin-resistant diabetes mellitus", "equivalent_identifiers": ["HP:0000831", "EFO:0010164", "UMLS:C0854110", "MEDDRA:10022491"], "information_content": 90.9}
{"id": "MONDO:0859517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 2b, severe infantile, autosomal recessive", "equivalent_identifiers": ["MONDO:0859517", "DOID:0081339", "OMIM:620265", "UMLS:C5830300", "medgen:1840936"], "information_content": 100.0}
{"id": "HP:0008180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mildly elevated creatine kinase", "equivalent_identifiers": ["HP:0008180", "UMLS:C1850309"], "information_content": 100.0}
{"id": "HP:0004887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory failure requiring assisted ventilation", "equivalent_identifiers": ["HP:0004887", "UMLS:C4025279"], "information_content": 92.8}
{"id": "MONDO:0030063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities", "equivalent_identifiers": ["MONDO:0030063", "OMIM:618922", "UMLS:C5394517", "medgen:1708579"], "information_content": 100.0}
{"id": "HP:0012706", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated brain choline level by MRS", "equivalent_identifiers": ["HP:0012706", "UMLS:C4022763"], "information_content": 100.0}
{"id": "HP:0410170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hippocampal atrophy", "equivalent_identifiers": ["HP:0410170", "EFO:0005039", "UMLS:C4315130", "MEDDRA:10081973"], "information_content": 95.4}
{"id": "MONDO:0020696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin B12 deficiency", "equivalent_identifiers": ["MONDO:0020696", "EFO:0000734", "UMLS:C0042847", "UMLS:C5886863", "MESH:D014806", "MEDDRA:10047609", "MEDDRA:10052831", "MEDDRA:10082435", "MEDDRA:10082438", "NCIT:C131684", "SNOMEDCT:190634004", "medgen:21880", "icd11.foundation:1366882206", "HP:0100502"], "information_content": 78.0}
{"id": "MONDO:0019591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panhypopituitarism", "equivalent_identifiers": ["MONDO:0019591", "DOID:9410", "orphanet:90695", "UMLS:C0242343", "MESH:C580003", "MEDDRA:10033662", "NCIT:C110940", "SNOMEDCT:32390006", "medgen:69171", "icd11.foundation:1576287890", "ICD9:253.2", "HP:0000871"], "information_content": 92.8}
{"id": "HP:0011470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasogastric tube feeding in infancy", "equivalent_identifiers": ["HP:0011470", "UMLS:C4023343"], "information_content": 100.0}
{"id": "MONDO:0020772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, juvenile absence, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0020772", "DOID:0111324", "OMIM:607631", "UMLS:C2750892", "medgen:413426"], "information_content": 100.0}
{"id": "HP:0010849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with spike-wave complexes (>3.5 Hz)", "equivalent_identifiers": ["HP:0010849", "UMLS:C4020765", "UMLS:C4023684"], "information_content": 100.0}
{"id": "HP:0007193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral tonic-clonic seizure on awakening", "equivalent_identifiers": ["HP:0007193", "UMLS:C1847165"], "information_content": 100.0}
{"id": "MONDO:0011323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arhinia, choanal atresia, and microphthalmia", "equivalent_identifiers": ["MONDO:0011323", "OMIM:603457", "orphanet:2250", "UMLS:C1863878", "MESH:C537429", "SNOMEDCT:720511000", "medgen:355084"], "information_content": 100.0}
{"id": "MONDO:0015237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhinia", "equivalent_identifiers": ["MONDO:0015237", "orphanet:1134", "UMLS:C0265740", "UMLS:C4280391", "MESH:C537438", "SNOMEDCT:111317000", "medgen:120555", "icd11.foundation:409489963", "HP:0009927"], "information_content": 100.0}
{"id": "HP:0011268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent tragus", "equivalent_identifiers": ["HP:0011268", "UMLS:C4023439"], "information_content": 100.0}
{"id": "HP:0006784", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paranasal sinus hypoplasia", "equivalent_identifiers": ["HP:0006784", "UMLS:C2749161", "UMLS:C4280256", "UMLS:C4280441", "UMLS:C4280442", "MEDDRA:10082941"], "information_content": 95.4}
{"id": "HP:0000685", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of teeth", "equivalent_identifiers": ["HP:0000685", "UMLS:C0235357", "MEDDRA:10021073", "MEDDRA:10044040", "MEDDRA:10044041"], "information_content": 88.2}
{"id": "MONDO:0008799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anophthalmia/microphthalmia-esophageal atresia syndrome", "equivalent_identifiers": ["MONDO:0008799", "DOID:0111801", "OMIM:206900", "orphanet:77298", "UMLS:C1859773", "UMLS:C1859774", "MESH:C565948", "MESH:C565949", "SNOMEDCT:698851003", "medgen:347232"], "information_content": 100.0}
{"id": "MONDO:0009436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypothalamic hamartoma syndrome", "equivalent_identifiers": ["MONDO:0009436", "OMIM:241800", "UMLS:C0342418", "UMLS:C5435677", "MESH:C537158", "MEDDRA:10078217", "NCIT:C4385", "SNOMEDCT:237714006", "medgen:137970", "icd11.foundation:2057991470", "HP:0002444"], "information_content": 100.0}
{"id": "MONDO:0001044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal atresia", "equivalent_identifiers": ["MONDO:0001044", "DOID:10485", "UMLS:C0014850", "MESH:D004933", "MEDDRA:10003651", "MEDDRA:10003652", "MEDDRA:10015471", "MEDDRA:10021530", "MEDDRA:10030146", "MEDDRA:10055460", "MEDDRA:10055495", "MEDDRA:10056097", "MEDDRA:10072767", "MEDDRA:10072768", "NCIT:C87072", "SNOMEDCT:26179002", "medgen:4545", "ICD10:Q39.0", "HP:0002032"], "information_content": 92.8}
{"id": "MONDO:0014095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1JJ", "equivalent_identifiers": ["MONDO:0014095", "DOID:0110438", "OMIM:615235", "UMLS:C3808935", "medgen:815265"], "information_content": 100.0}
{"id": "MONDO:0014248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism spectrum disorder - epilepsy - arthrogryposis syndrome", "equivalent_identifiers": ["MONDO:0014248", "OMIM:615553", "orphanet:370943", "UMLS:C3809910", "medgen:816240"], "information_content": 100.0}
{"id": "HP:0100490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camptodactyly of finger", "equivalent_identifiers": ["HP:0100490", "UMLS:C0409348", "SNOMEDCT:202281000"], "information_content": 85.5}
{"id": "MONDO:0006891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial motor epilepsy", "equivalent_identifiers": ["MONDO:0006891", "DOID:3327", "EFO:1001089", "UMLS:C0016399", "UMLS:C5397594", "MESH:D020938", "MEDDRA:10080918", "NCIT:C50847", "SNOMEDCT:128612007", "SNOMEDCT:82401000", "medgen:5237", "HP:0011153"], "information_content": 71.4}
{"id": "HP:0004976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knee dislocation", "equivalent_identifiers": ["HP:0004976", "UMLS:C0159970", "MEDDRA:10013151", "MEDDRA:10013175", "MEDDRA:10023473", "SNOMEDCT:157266009", "SNOMEDCT:58320001", "MESH:D031221"], "information_content": 95.4}
{"id": "MONDO:0013959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4F", "equivalent_identifiers": ["MONDO:0013959", "DOID:0110193", "OMIM:614895", "orphanet:99952", "UMLS:C2608082", "UMLS:C3540453", "SNOMEDCT:715801001", "medgen:761704", "icd11.foundation:330503211"], "information_content": 100.0}
{"id": "HP:0008954", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intrinsic hand muscle atrophy", "equivalent_identifiers": ["HP:0008954", "UMLS:C1864716"], "information_content": 100.0}
{"id": "HP:0003400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basal lamina onion bulb formation", "equivalent_identifiers": ["HP:0003400", "UMLS:C1866637"], "information_content": 100.0}
{"id": "HP:0003387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased number of large peripheral myelinated nerve fibers", "equivalent_identifiers": ["HP:0003387", "UMLS:C1859606"], "information_content": 100.0}
{"id": "MONDO:0013147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1CC", "equivalent_identifiers": ["MONDO:0013147", "DOID:0110424", "OMIM:613122", "UMLS:C2751084", "MESH:C567733", "medgen:413929"], "information_content": 100.0}
{"id": "MONDO:0010912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement", "equivalent_identifiers": ["MONDO:0010912", "DOID:0081017", "OMIM:600638", "UMLS:C2748801", "MESH:C567572", "medgen:412638"], "information_content": 100.0}
{"id": "HP:0030303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic anterior commissure", "equivalent_identifiers": ["HP:0030303", "UMLS:C4022524"], "information_content": 100.0}
{"id": "MONDO:0007614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital fibrosis of extraocular muscles", "equivalent_identifiers": ["MONDO:0007614", "DOID:0080143", "OMIM.PS:135700", "orphanet:45358", "UMLS:C1302995", "MESH:C580012", "SNOMEDCT:400946004", "medgen:724506", "icd11.foundation:887449084", "HP:0001491"], "information_content": 85.5}
{"id": "HP:0025102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysgenesis of the basal ganglia", "equivalent_identifiers": ["HP:0025102", "UMLS:C4476592"], "information_content": 100.0}
{"id": "HP:0012242", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superior rectus atrophy", "equivalent_identifiers": ["HP:0012242", "UMLS:C1851108"], "information_content": 100.0}
{"id": "HP:0012241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Levator palpebrae superioris atrophy", "equivalent_identifiers": ["HP:0012241", "UMLS:C1851107"], "information_content": 100.0}
{"id": "HP:0007831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonprogressive restrictive external ophthalmoplegia", "equivalent_identifiers": ["HP:0007831", "UMLS:C4024789"], "information_content": 100.0}
{"id": "HP:0001477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compensatory chin elevation", "equivalent_identifiers": ["HP:0001477", "UMLS:C1846911"], "information_content": 100.0}
{"id": "MONDO:0054849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 29", "equivalent_identifiers": ["MONDO:0054849", "DOID:0112155", "OMIM:618077", "UMLS:C4748083", "medgen:1648318"], "information_content": 100.0}
{"id": "MONDO:0005101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulcerative colitis", "equivalent_identifiers": ["MONDO:0005101", "DOID:8577", "EFO:0000729", "UMLS:C0009324", "UMLS:C0375359", "MESH:D003093", "MEDDRA:10009900", "MEDDRA:10021238", "MEDDRA:10024123", "MEDDRA:10036785", "MEDDRA:10045365", "MEDDRA:10045366", "NCIT:C2952", "SNOMEDCT:441971007", "SNOMEDCT:64766004", "medgen:3532", "icd11.foundation:784669405", "ICD10:K51", "ICD9:556", "ICD9:556.5", "HP:0100279"], "information_content": 89.4}
{"id": "MONDO:0005011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crohn disease", "equivalent_identifiers": ["MONDO:0005011", "DOID:8778", "EFO:0000384", "UMLS:C0010346", "MESH:D003424", "MEDDRA:10011398", "MEDDRA:10011401", "MEDDRA:10011405", "MEDDRA:10013099", "NCIT:C2965", "SNOMEDCT:34000006", "SNOMEDCT:7620006", "medgen:3664", "icd11.foundation:1267652425", "HP:0100280"], "information_content": 71.8}
{"id": "MONDO:0012002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 40", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012002", "DOID:0110499", "OMIM:608264", "UMLS:C1842345", "MESH:C564266", "medgen:334053"], "information_content": 100.0}
{"id": "MONDO:0023662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 10", "equivalent_identifiers": ["MONDO:0023662", "OMIM:619369", "UMLS:C5543531", "medgen:1780452"], "information_content": 100.0}
{"id": "MONDO:0054843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 38", "equivalent_identifiers": ["MONDO:0054843", "DOID:0111852", "OMIM:618063", "UMLS:C4748052", "medgen:1648465"], "information_content": 100.0}
{"id": "HP:0031245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Productive cough", "equivalent_identifiers": ["HP:0031245", "NCIT:C78569", "UMLS:C0239134", "MEDDRA:10036790", "SNOMEDCT:28743005"], "information_content": 100.0}
{"id": "HP:0012259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent inner and outer dynein arms", "equivalent_identifiers": ["HP:0012259", "UMLS:C4022986"], "information_content": 100.0}
{"id": "MONDO:0003014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhinitis", "equivalent_identifiers": ["MONDO:0003014", "DOID:4483", "EFO:0008521", "UMLS:C0035455", "UMLS:C0240557", "UMLS:C2718128", "MESH:D012220", "MEDDRA:10028741", "MEDDRA:10028742", "MEDDRA:10039083", "MEDDRA:10039092", "NCIT:C34986", "SNOMEDCT:70076002", "medgen:19782", "HP:0012384"], "information_content": 84.8}
{"id": "HP:0012263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Immotile cilia", "equivalent_identifiers": ["HP:0012263", "UMLS:C1855672"], "information_content": 100.0}
{"id": "MONDO:0021204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic otitis media", "equivalent_identifiers": ["MONDO:0021204", "UMLS:C0271441", "UMLS:C0743359", "MEDDRA:10033081", "MEDDRA:10033082", "SNOMEDCT:21186006", "medgen:75751", "icd11.foundation:38010200", "HP:0000389"], "information_content": 86.3}
{"id": "MONDO:0010604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemophilia B", "equivalent_identifiers": ["MONDO:0010604", "DOID:12259", "OMIM:306900", "orphanet:98879", "UMLS:C0008533", "MESH:D002836", "MEDDRA:10008793", "MEDDRA:10010467", "MEDDRA:10016077", "MEDDRA:10018939", "MEDDRA:10060614", "MEDDRA:10082786", "MEDDRA:10082788", "NCIT:C26721", "SNOMEDCT:41788008", "SNOMEDCT:767712006", "medgen:945", "icd11.foundation:1901375668", "ICD10:D67", "ICD9:286.1"], "information_content": 89.4}
{"id": "HP:0005542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged whole-blood clotting time", "equivalent_identifiers": ["HP:0005542", "UMLS:C0151563", "MEDDRA:10009682", "MEDDRA:10009683", "MEDDRA:10009684", "MEDDRA:10009793", "MEDDRA:10009797", "MEDDRA:10009799", "MEDDRA:10043862"], "information_content": 100.0}
{"id": "HP:0002249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melena", "equivalent_identifiers": ["HP:0002249", "NCIT:C86571", "UMLS:C0025222", "UMLS:C0474585", "MEDDRA:10004977", "MEDDRA:10027141", "MEDDRA:10027162", "MEDDRA:10042143", "MEDDRA:10042153", "MEDDRA:10043119", "SNOMEDCT:249627005", "SNOMEDCT:267055007", "SNOMEDCT:269899009", "SNOMEDCT:2901004", "SNOMEDCT:35064005", "MESH:D008551"], "information_content": 95.4}
{"id": "HP:0002248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hematemesis", "equivalent_identifiers": ["HP:0002248", "NCIT:C37964", "UMLS:C0018926", "MEDDRA:10014543", "MEDDRA:10018830", "MEDDRA:10019418", "MEDDRA:10047702", "SNOMEDCT:8765009", "MESH:D006396"], "information_content": 100.0}
{"id": "MONDO:0033361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 52", "equivalent_identifiers": ["MONDO:0033361", "DOID:0080455", "OMIM:617350", "UMLS:C4479236", "medgen:1376462"], "information_content": 100.0}
{"id": "HP:0007270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical absence seizure", "equivalent_identifiers": ["HP:0007270", "UMLS:C0595948", "SNOMEDCT:23374007"], "information_content": 100.0}
{"id": "HP:0007281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Developmental stagnation", "equivalent_identifiers": ["HP:0007281", "UMLS:C1848980"], "information_content": 95.4}
{"id": "MONDO:0011783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG12-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011783", "DOID:0080559", "OMIM:607143", "orphanet:79324", "UMLS:C2931001", "MESH:C535745", "NCIT:C126873", "SNOMEDCT:711155008", "medgen:443954"], "information_content": 100.0}
{"id": "MONDO:0013144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary antithrombin deficiency", "equivalent_identifiers": ["MONDO:0013144", "DOID:3755", "OMIM:613118", "orphanet:82", "UMLS:C0272375", "MESH:D020152", "MEDDRA:10002832", "MEDDRA:10083881", "NCIT:C98815", "SNOMEDCT:36351005", "medgen:75781", "HP:0001976"], "information_content": 100.0}
{"id": "MONDO:0012719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined PSAP deficiency", "equivalent_identifiers": ["MONDO:0012719", "DOID:0111330", "OMIM:611721", "orphanet:139406", "UMLS:C2673635", "UMLS:C4303785", "MESH:C567125", "SNOMEDCT:720864008", "medgen:382151"], "information_content": 100.0}
{"id": "HP:0004343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal glycosphingolipid metabolism", "equivalent_identifiers": ["HP:0004343", "UMLS:C4025350"], "information_content": 85.5}
{"id": "HP:0002380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fasciculations", "equivalent_identifiers": ["HP:0002380", "NCIT:C34606", "UMLS:C0015644", "MEDDRA:10016225", "MEDDRA:10028304", "SNOMEDCT:82470000", "MESH:D005207"], "information_content": 89.4}
{"id": "MONDO:0007799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic bone disease", "equivalent_identifiers": ["MONDO:0007799", "OMIM:146350", "UMLS:C1840321", "MESH:C564145", "medgen:333534"], "information_content": 100.0}
{"id": "MONDO:0014243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schaaf-Yang syndrome", "equivalent_identifiers": ["MONDO:0014243", "DOID:0111715", "OMIM:615547", "orphanet:398069", "UMLS:C1859724", "UMLS:C5575066", "MESH:C000726748", "MESH:C535385", "SNOMEDCT:1229946007", "medgen:1807366"], "information_content": 100.0}
{"id": "HP:0004283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow palm", "equivalent_identifiers": ["HP:0004283", "UMLS:C1857632"], "information_content": 100.0}
{"id": "HP:0002591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyphagia", "equivalent_identifiers": ["HP:0002591", "NCIT:C118180", "UMLS:C0020505", "UMLS:C0232461", "MEDDRA:10003027", "MEDDRA:10003029", "MEDDRA:10015598", "MEDDRA:10020710", "MEDDRA:10021654", "MEDDRA:10036132", "SNOMEDCT:267023007", "SNOMEDCT:58424009", "SNOMEDCT:72405004", "MESH:D006963"], "information_content": 95.4}
{"id": "MONDO:0008824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal akinesia", "equivalent_identifiers": ["MONDO:0008824", "DOID:0111375", "OMIM.PS:208150", "UMLS:C0265228", "UMLS:C1276035", "UMLS:C3151520", "UMLS:C5442080", "MESH:C536647", "NCIT:C129071", "NCIT:C99008", "SNOMEDCT:401138005", "HP:0001989"], "information_content": 88.2}
{"id": "MONDO:0013947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 5", "equivalent_identifiers": ["MONDO:0013947", "DOID:0111214", "OMIM:614881", "orphanet:314485", "UMLS:C4749918", "SNOMEDCT:771475006", "medgen:1667915"], "information_content": 100.0}
{"id": "MONDO:0001516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy", "equivalent_identifiers": ["MONDO:0001516", "DOID:12377", "EFO:0008525", "UMLS:C0026847", "MESH:D009134", "MEDDRA:10041582", "MEDDRA:10041583", "MEDDRA:10051207", "NCIT:C85075", "SNOMEDCT:5262007", "medgen:7755", "icd11.foundation:71074342", "ICD10:G12.9", "ICD9:335.1", "HP:0007269"], "information_content": 72.2}
{"id": "HP:0008944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal lower limb amyotrophy", "equivalent_identifiers": ["HP:0008944", "EFO:0009912", "UMLS:C1836451", "UMLS:C1866863", "UMLS:C3806644"], "information_content": 95.4}
{"id": "MONDO:0014751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014751", "OMIM:616728", "orphanet:477993", "UMLS:C4225229", "medgen:895943"], "information_content": 100.0}
{"id": "HP:0000041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chordee", "equivalent_identifiers": ["HP:0000041", "UMLS:C0221182", "MEDDRA:10008746", "SNOMEDCT:4287008"], "information_content": 100.0}
{"id": "HP:0012430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral white matter hypoplasia", "equivalent_identifiers": ["HP:0012430", "UMLS:C4020727", "UMLS:C4022908"], "information_content": 92.8}
{"id": "HP:0006895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb hypertonia", "equivalent_identifiers": ["HP:0006895", "UMLS:C1845245"], "information_content": 100.0}
{"id": "HP:0003468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vertebral morphology", "equivalent_identifiers": ["HP:0003468", "UMLS:C0158775", "UMLS:C1834129", "UMLS:C4020839", "UMLS:C4020840", "MEDDRA:10010352", "MEDDRA:10010631", "MEDDRA:10041611", "MEDDRA:10041612", "SNOMEDCT:205043005", "SNOMEDCT:74877002"], "information_content": 62.5}
{"id": "MONDO:0012477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 33", "equivalent_identifiers": ["MONDO:0012477", "DOID:0110366", "OMIM:610359", "UMLS:C1835895", "MESH:C563676", "medgen:332080"], "information_content": 100.0}
{"id": "MONDO:0002009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "major depressive disorder", "equivalent_identifiers": ["MONDO:0002009", "DOID:1470", "OMIM:608516", "EFO:0003761", "UMLS:C0024517", "UMLS:C0041696", "UMLS:C0154409", "UMLS:C1269683", "MESH:D003865", "MEDDRA:10025453", "MEDDRA:10025454", "MEDDRA:10025463", "MEDDRA:10025471", "MEDDRA:10045543", "MEDDRA:10045544", "MEDDRA:10057840", "MEDDRA:10081270", "NCIT:C195908", "NCIT:C34796", "NCIT:C35094", "SNOMEDCT:268621008", "SNOMEDCT:36923009", "SNOMEDCT:370143000", "SNOMEDCT:66344007", "medgen:266123", "ICD10:F32", "ICD10:F33.9", "ICD9:296.2", "ICD9:296.3"], "information_content": 88.2}
{"id": "MONDO:0011873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Niemann-Pick disease, type C2", "equivalent_identifiers": ["MONDO:0011873", "DOID:0070114", "OMIM:607625", "UMLS:C1843366", "MESH:C536119", "NCIT:C126865", "medgen:335942"], "information_content": 100.0}
{"id": "HP:0001791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal ascites", "equivalent_identifiers": ["HP:0001791", "UMLS:C1285291", "SNOMEDCT:363125002"], "information_content": 100.0}
{"id": "HP:0002185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurofibrillary tangles", "equivalent_identifiers": ["HP:0002185", "UMLS:C0085400", "MEDDRA:10077196", "SNOMEDCT:85775002", "MESH:D016874"], "information_content": 79.0}
{"id": "HP:0003349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low cholesterol esterification rate", "equivalent_identifiers": ["HP:0003349", "UMLS:C1843371"], "information_content": 100.0}
{"id": "HP:0003640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CNS foam cells", "equivalent_identifiers": ["HP:0003640", "UMLS:C1843373", "UMLS:C5558248"], "information_content": 100.0}
{"id": "MONDO:0010017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sea-blue histiocyte syndrome", "equivalent_identifiers": ["MONDO:0010017", "DOID:4423", "OMIM:269600", "orphanet:158029", "UMLS:C0036489", "MESH:D012618", "NCIT:C85062", "SNOMEDCT:37821003", "medgen:19908", "HP:0001982"], "information_content": 100.0}
{"id": "HP:0004333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone-marrow foam cells", "equivalent_identifiers": ["HP:0004333", "UMLS:C1856560"], "information_content": 100.0}
{"id": "HP:0030223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perseveration", "equivalent_identifiers": ["HP:0030223", "UMLS:C0233651", "MEDDRA:10034703", "SNOMEDCT:44515000"], "information_content": 100.0}
{"id": "MONDO:0008062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "narcolepsy 1", "equivalent_identifiers": ["MONDO:0008062", "OMIM:161400", "UMLS:C0007384", "UMLS:C1834372", "MESH:C563534", "MESH:D002385", "MEDDRA:10007737", "NCIT:C84618", "SNOMEDCT:46263000", "medgen:371809", "HP:0002524"], "information_content": 89.4}
{"id": "MONDO:0002771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis", "equivalent_identifiers": ["MONDO:0002771", "DOID:3770", "EFO:0009448", "UMLS:C0034069", "MESH:D011658", "MEDDRA:10016649", "MEDDRA:10016660", "MEDDRA:10025088", "MEDDRA:10037383", "MEDDRA:10087671", "NCIT:C26869", "SNOMEDCT:51615001", "medgen:11028", "HP:0002206"], "information_content": 81.3}
{"id": "MONDO:0013360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachyolmia, Maroteaux type", "equivalent_identifiers": ["MONDO:0013360", "OMIM:613678", "orphanet:93302", "UMLS:C5399913", "MESH:C563218", "MEDDRA:10081834", "SNOMEDCT:389165004", "medgen:1777254"], "information_content": 100.0}
{"id": "MONDO:0008619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulna metaphyseal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0008619", "OMIM:191420", "orphanet:1837", "UMLS:C1860615", "MESH:C536935", "SNOMEDCT:715242008", "medgen:348149", "icd11.foundation:1343160916"], "information_content": 100.0}
{"id": "HP:0000925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the vertebral column", "equivalent_identifiers": ["HP:0000925", "UMLS:C4020882", "UMLS:C4021789"], "information_content": 59.3}
{"id": "HP:0030836", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wrist pain", "equivalent_identifiers": ["HP:0030836", "UMLS:C0221785", "UMLS:C5970507", "MEDDRA:10000430", "MEDDRA:10048692", "SNOMEDCT:202482009", "SNOMEDCT:56608008"], "information_content": 95.4}
{"id": "MONDO:0030330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial restrictive, 6", "equivalent_identifiers": ["MONDO:0030330", "DOID:0061025", "OMIM:619433", "UMLS:C5543638", "medgen:1780781"], "information_content": 100.0}
{"id": "HP:4000148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic artery hyperplasia", "equivalent_identifiers": ["HP:4000148", "UMLS:C5872936"], "information_content": 100.0}
{"id": "MONDO:0005201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restrictive cardiomyopathy", "equivalent_identifiers": ["MONDO:0005201", "DOID:397", "orphanet:217632", "EFO:0002630", "UMLS:C0007196", "MESH:D002313", "MEDDRA:10038748", "NCIT:C62798", "SNOMEDCT:415295002", "SNOMEDCT:90828009", "medgen:40111", "icd11.foundation:316495940", "ICD10:I42.5", "HP:0001723"], "information_content": 76.2}
{"id": "HP:0034548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Portal vein hypoplasia", "equivalent_identifiers": ["HP:0034548", "UMLS:C1299889", "SNOMEDCT:370480003"], "information_content": 100.0}
{"id": "MONDO:0012312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short QT syndrome type 1", "equivalent_identifiers": ["MONDO:0012312", "OMIM:609620", "UMLS:C1865020", "MESH:C566506", "medgen:355891"], "information_content": 100.0}
{"id": "MONDO:0010640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber optic atrophy, susceptibility to", "equivalent_identifiers": ["MONDO:0010640", "OMIM:308905", "UMLS:C1839891", "medgen:374333"], "information_content": 100.0}
{"id": "MONDO:0859160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex IV deficiency, nuclear type 22", "equivalent_identifiers": ["MONDO:0859160", "DOID:0070507", "OMIM:619355", "UMLS:C5543491", "medgen:1786100"], "information_content": 100.0}
{"id": "HP:0033444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating dodecanoylcarnitine concentration", "equivalent_identifiers": ["HP:0033444", "UMLS:C5539597"], "information_content": 100.0}
{"id": "HP:0033465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating tetradecanoylcarnitine concentration", "equivalent_identifiers": ["HP:0033465", "UMLS:C5706142"], "information_content": 95.4}
{"id": "HP:0012402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urine alpha-ketoglutarate concentration", "equivalent_identifiers": ["HP:0012402", "UMLS:C4022915"], "information_content": 100.0}
{"id": "HP:0012470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sunsetting eyes", "equivalent_identifiers": ["HP:0012470", "UMLS:C0423128", "UMLS:C4020721", "SNOMEDCT:63342001"], "information_content": 100.0}
{"id": "HP:0003542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating pyruvate concentration", "equivalent_identifiers": ["HP:0003542", "UMLS:C1849488", "MEDDRA:10040392"], "information_content": 100.0}
{"id": "HP:0008160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxydicarboxylic aciduria", "equivalent_identifiers": ["HP:0008160", "UMLS:C4024725"], "information_content": 100.0}
{"id": "HP:0004900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe lactic acidosis", "equivalent_identifiers": ["HP:0004900", "UMLS:C1839436"], "information_content": 100.0}
{"id": "MONDO:0007740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wagner disease", "equivalent_identifiers": ["MONDO:0007740", "OMIM:143200", "orphanet:898", "UMLS:C1840452", "MESH:C536075", "MEDDRA:10063383", "SNOMEDCT:232064001", "medgen:326741", "icd11.foundation:780893571", "HP:0030673"], "information_content": 100.0}
{"id": "HP:0030663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optically empty vitreous", "equivalent_identifiers": ["HP:0030663", "UMLS:C4073118"], "information_content": 100.0}
{"id": "MONDO:0020248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitreoretinal degeneration", "equivalent_identifiers": ["MONDO:0020248", "UMLS:C0344290", "UMLS:C1850109", "SNOMEDCT:247182006", "medgen:87480", "HP:0007773"], "information_content": 73.0}
{"id": "HP:0007643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral tractional retinal detachment", "equivalent_identifiers": ["HP:0007643", "UMLS:C4024825"], "information_content": 100.0}
{"id": "HP:0030490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exudative vitreoretinopathy", "equivalent_identifiers": ["HP:0030490", "UMLS:C4072980"], "information_content": 100.0}
{"id": "MONDO:0013847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16p11.2 duplication syndrome", "equivalent_identifiers": ["MONDO:0013847", "DOID:0060430", "OMIM:614671", "orphanet:370079", "UMLS:C3553407", "UMLS:C4707332", "SNOMEDCT:765142003", "medgen:766321", "ICD10:Q92.3"], "information_content": 100.0}
{"id": "MONDO:0700112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 5, autosomal", "equivalent_identifiers": ["MONDO:0700112", "OMIM:270100", "UMLS:C3495537", "medgen:501198"], "information_content": 100.0}
{"id": "HP:0011699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrial reentry tachycardia", "equivalent_identifiers": ["HP:0011699", "UMLS:C4023223"], "information_content": 100.0}
{"id": "MONDO:0015451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "univentricular heart", "equivalent_identifiers": ["MONDO:0015451", "orphanet:1464", "UMLS:C0344622", "MESH:D000080039", "MEDDRA:10082665", "SNOMEDCT:253283000", "medgen:488862", "icd11.foundation:1786413029", "HP:0011555"], "information_content": 95.4}
{"id": "HP:0031565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal situs ambiguus", "equivalent_identifiers": ["HP:0031565", "UMLS:C4531036"], "information_content": 100.0}
{"id": "MONDO:0010831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacral agenesis", "equivalent_identifiers": ["MONDO:0010831", "OMIM:600145", "orphanet:1768", "UMLS:C0344490", "UMLS:C1838568", "UMLS:C2931053", "UMLS:C4476549", "MESH:C535879", "MESH:C537221", "MEDDRA:10054842", "NCIT:C99054", "SNOMEDCT:205425003", "SNOMEDCT:722493007", "medgen:418973", "HP:0010305"], "information_content": 95.4}
{"id": "HP:0031348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dextrotransposition of the great arteries", "equivalent_identifiers": ["HP:0031348", "NCIT:C99096", "UMLS:C3531771", "SNOMEDCT:285251000119101", "MESH:C563853"], "information_content": 88.2}
{"id": "MONDO:0008832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyasplenia", "equivalent_identifiers": ["MONDO:0008832", "DOID:0060856", "OMIM:208530", "orphanet:97548", "UMLS:C0175707", "UMLS:C0265357", "UMLS:C1876171", "UMLS:C1876173", "UMLS:C3178806", "MESH:C566862", "MESH:C566864", "MEDDRA:10059124", "MEDDRA:10059125", "MEDDRA:10068334", "MEDDRA:10068335", "MEDDRA:10080599", "SNOMEDCT:253336000", "SNOMEDCT:72425000", "medgen:465274", "HP:0011536"], "information_content": 100.0}
{"id": "HP:0001746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asplenia", "equivalent_identifiers": ["HP:0001746", "UMLS:C0600031", "UMLS:C5574735", "UMLS:C5779621", "MEDDRA:10053622", "SNOMEDCT:1003551006", "SNOMEDCT:702624008", "SNOMEDCT:707147002", "SNOMEDCT:93030006"], "information_content": 95.4}
{"id": "HP:0003363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal situs inversus", "equivalent_identifiers": ["HP:0003363"], "information_content": 100.0}
{"id": "HP:0000071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureteral stenosis", "equivalent_identifiers": ["HP:0000071", "NCIT:C115958", "UMLS:C0521618", "MEDDRA:10041998", "MEDDRA:10046411", "SNOMEDCT:95574003"], "information_content": 89.4}
{"id": "MONDO:0020453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital partial pulmonary venous return anomaly", "equivalent_identifiers": ["MONDO:0020453", "orphanet:99124", "UMLS:C0158634", "MEDDRA:10034056", "NCIT:C99004", "SNOMEDCT:68237008", "medgen:450995", "icd11.foundation:1041585584", "HP:0010773"], "information_content": 95.4}
{"id": "MONDO:0007130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital total pulmonary venous return anomaly", "equivalent_identifiers": ["MONDO:0007130", "DOID:4297", "OMIM:106700", "orphanet:99125", "UMLS:C4551903", "UMLS:C4551904", "MEDDRA:10044081", "NCIT:C98585", "SNOMEDCT:111323005", "medgen:1648157", "icd11.foundation:1532925990", "HP:0005160"], "information_content": 89.4}
{"id": "HP:0011861", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral trilobed lung", "equivalent_identifiers": ["HP:0011861", "UMLS:C3164377", "SNOMEDCT:448648001"], "information_content": 100.0}
{"id": "MONDO:0013843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency", "equivalent_identifiers": ["MONDO:0013843", "OMIM:614665", "orphanet:314376", "UMLS:C4518781", "SNOMEDCT:733447005", "medgen:1390359"], "information_content": 100.0}
{"id": "MONDO:0054868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meconium ileus", "equivalent_identifiers": ["MONDO:0054868", "UMLS:C0398349", "UMLS:C2939175", "UMLS:C3553397", "MESH:D000074270", "MEDDRA:10021329", "MEDDRA:10027058", "MEDDRA:10056361", "MEDDRA:10056365", "NCIT:C98979", "SNOMEDCT:206523001", "SNOMEDCT:233662009", "SNOMEDCT:86092005", "medgen:473705", "HP:0004401"], "information_content": 92.8}
{"id": "HP:0004388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microcolon", "equivalent_identifiers": ["HP:0004388", "NCIT:C98987", "UMLS:C0266200", "UMLS:C3553395", "MEDDRA:10073456", "SNOMEDCT:18389004", "MESH:C562563"], "information_content": 92.8}
{"id": "HP:0040128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sweat electrolytes", "equivalent_identifiers": ["HP:0040128", "UMLS:C4022422"], "information_content": 100.0}
{"id": "MONDO:0012203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hyperthyroidism due to mutations in TSH receptor", "equivalent_identifiers": ["MONDO:0012203", "DOID:0081101", "OMIM:609152", "orphanet:424", "UMLS:C1836706", "MESH:C563786", "medgen:373154"], "information_content": 100.0}
{"id": "HP:0031506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating T4 concentration", "equivalent_identifiers": ["HP:0031506", "UMLS:C4531079"], "information_content": 100.0}
{"id": "HP:0200028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pretibial myxedema", "equivalent_identifiers": ["HP:0200028", "UMLS:C0033103", "UMLS:C0342554", "MEDDRA:10069007", "MEDDRA:10069009", "SNOMEDCT:237825005", "SNOMEDCT:78146007"], "information_content": 100.0}
{"id": "HP:0011788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating free T3", "equivalent_identifiers": ["HP:0011788", "UMLS:C4021843"], "information_content": 95.4}
{"id": "HP:0032069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-thyroglobulin antibody positivity", "equivalent_identifiers": ["HP:0032069", "UMLS:C4732836"], "information_content": 100.0}
{"id": "HP:0031098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased thyroid-stimulating hormone level", "equivalent_identifiers": ["HP:0031098", "UMLS:C1295607", "SNOMEDCT:131017004"], "information_content": 100.0}
{"id": "HP:0008249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyroid hyperplasia", "equivalent_identifiers": ["HP:0008249", "UMLS:C1112776", "MEDDRA:10057655"], "information_content": 90.9}
{"id": "MONDO:0007901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "levator-medial rectus synkinesis", "equivalent_identifiers": ["MONDO:0007901", "OMIM:151610", "UMLS:C1835403", "MESH:C563625", "medgen:320592"], "information_content": 100.0}
{"id": "HP:0500043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lid Retraction", "equivalent_identifiers": ["HP:0500043", "NCIT:C118866", "UMLS:C0234665", "MEDDRA:10015997", "SNOMEDCT:14520009", "SNOMEDCT:43854003"], "information_content": 90.9}
{"id": "HP:0000492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eyelid morphology", "equivalent_identifiers": ["HP:0000492", "UMLS:C4021803"], "information_content": 64.5}
{"id": "MONDO:0005328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eye disorder", "equivalent_identifiers": ["MONDO:0005328", "DOID:1242", "DOID:5614", "EFO:0003966", "EFO:0009664", "UMLS:C0015393", "UMLS:C0015397", "UMLS:C0154780", "UMLS:C4316870", "MESH:D005124", "MESH:D005128", "MEDDRA:10010435", "MEDDRA:10010462", "MEDDRA:10013221", "MEDDRA:10015903", "MEDDRA:10015904", "MEDDRA:10015913", "MEDDRA:10015916", "MEDDRA:10015918", "MEDDRA:10015919", "MEDDRA:10015920", "MEDDRA:10015949", "MEDDRA:10030874", "MEDDRA:10045628", "MEDDRA:10045783", "MEDDRA:10045790", "MEDDRA:10054716", "MEDDRA:10059159", "NCIT:C26767", "NCIT:C98887", "SNOMEDCT:19416009", "SNOMEDCT:371405004", "medgen:1370071", "medgen:5092", "ICD10:H44", "ICD10:H44.39", "ICD9:360.29", "ICD9:379.90", "HP:0000478"], "information_content": 48.7}
{"id": "MONDO:0020716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 1", "equivalent_identifiers": ["MONDO:0020716", "DOID:0112185", "OMIM:274400", "UMLS:C1848805", "medgen:336422"], "information_content": 100.0}
{"id": "MONDO:0007308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2A1", "equivalent_identifiers": ["MONDO:0007308", "DOID:0110154", "OMIM:118210", "orphanet:99946", "UMLS:C1861678", "UMLS:C2079538", "MESH:C537988", "MESH:C566138", "NCIT:C134952", "NCIT:C150609", "SNOMEDCT:717016001", "medgen:350076", "icd11.foundation:2087067372"], "information_content": 92.8}
{"id": "HP:0003378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axonal degeneration/regeneration", "equivalent_identifiers": ["HP:0003378", "UMLS:C1968790"], "information_content": 100.0}
{"id": "HP:0003384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral axonal atrophy", "equivalent_identifiers": ["HP:0003384", "UMLS:C4025619"], "information_content": 100.0}
{"id": "MONDO:0012320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine, familial hemiplegic, 3", "equivalent_identifiers": ["MONDO:0012320", "DOID:0111183", "OMIM:609634", "UMLS:C1864987", "MESH:C566500", "medgen:400655"], "information_content": 100.0}
{"id": "MONDO:0001170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemiplegia", "equivalent_identifiers": ["MONDO:0001170", "DOID:10969", "EFO:0009453", "UMLS:C0018991", "UMLS:C0392550", "MESH:D006429", "MEDDRA:10019468", "MEDDRA:10019473", "MEDDRA:10021748", "MEDDRA:10033826", "NCIT:C64329", "SNOMEDCT:1593000", "SNOMEDCT:50582007", "medgen:9196", "icd11.foundation:1641958762", "ICD9:343.4", "HP:0002301"], "information_content": 86.3}
{"id": "MONDO:0010840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachygyria-intellectual disability-epilepsy syndrome", "equivalent_identifiers": ["MONDO:0010840", "OMIM:600176", "orphanet:2798", "UMLS:C1838491", "MESH:C538091", "SNOMEDCT:763861000", "medgen:333107"], "information_content": 100.0}
{"id": "HP:0000924", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the skeletal system", "equivalent_identifiers": ["HP:0000924", "UMLS:C4021790"], "information_content": 41.0}
{"id": "HP:0007069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Profound static encephalopathy", "equivalent_identifiers": ["HP:0007069", "UMLS:C4024944"], "information_content": 100.0}
{"id": "MONDO:0013577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lipedema", "equivalent_identifiers": ["MONDO:0013577", "OMIM:614103", "UMLS:C0398370", "MESH:D065134", "MEDDRA:10063955", "MEDDRA:10063956", "SNOMEDCT:234102003", "medgen:451048", "HP:0100695"], "information_content": 100.0}
{"id": "MONDO:0012943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 46", "equivalent_identifiers": ["MONDO:0012943", "DOID:0110409", "OMIM:612572", "UMLS:C2675496", "MESH:C567249", "medgen:382614"], "information_content": 100.0}
{"id": "MONDO:0020754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visceral myopathy 1", "equivalent_identifiers": ["MONDO:0020754", "OMIM:155310", "UMLS:C0042781", "UMLS:C1835084", "UMLS:C5542197", "MESH:C563597", "NCIT:C201588", "medgen:1785391"], "information_content": 92.8}
{"id": "HP:0000021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megacystis", "equivalent_identifiers": ["HP:0000021", "UMLS:C1855311"], "information_content": 100.0}
{"id": "HP:0030996", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megaduodenum", "equivalent_identifiers": ["HP:0030996", "UMLS:C0266177", "SNOMEDCT:235699006", "MESH:C536139"], "information_content": 100.0}
{"id": "MONDO:0002803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal pseudo-obstruction", "equivalent_identifiers": ["MONDO:0002803", "DOID:3878", "EFO:1000988", "UMLS:C0021847", "MESH:D007418", "MEDDRA:10022698", "NCIT:C34733", "SNOMEDCT:235825006", "medgen:5864", "HP:0004389"], "information_content": 86.3}
{"id": "MONDO:0018309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease", "equivalent_identifiers": ["MONDO:0018309", "DOID:10487", "OMIM.PS:142623", "orphanet:388", "UMLS:C0019569", "MESH:D006627", "MEDDRA:10001472", "MEDDRA:10010539", "MEDDRA:10020109", "MEDDRA:10027113", "MEDDRA:10034276", "MEDDRA:10078849", "NCIT:C34700", "SNOMEDCT:204739008", "medgen:5559", "icd11.foundation:1772690306", "ICD10:Q43.1", "HP:0002251"], "information_content": 83.6}
{"id": "MONDO:0005137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malnutrition", "equivalent_identifiers": ["MONDO:0005137", "DOID:374", "EFO:0001069", "EFO:0008572", "UMLS:C0162429", "UMLS:C3714509", "MESH:D009748", "MESH:D044342", "MEDDRA:10026713", "MEDDRA:10061273", "NCIT:C26836", "SNOMEDCT:248325000", "SNOMEDCT:2492009", "SNOMEDCT:47563007", "SNOMEDCT:65404009", "medgen:811347", "ICD10:X53", "HP:0004395"], "information_content": 66.3}
{"id": "HP:6000072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thinning of outer muscular layer of small bowel", "equivalent_identifiers": ["HP:6000072", "UMLS:C4011711"], "information_content": 100.0}
{"id": "MONDO:0004982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatitis", "equivalent_identifiers": ["MONDO:0004982", "DOID:4989", "EFO:0000278", "UMLS:C0030305", "MESH:D010195", "MEDDRA:10033645", "MEDDRA:10033656", "MEDDRA:10076039", "NCIT:C3306", "SNOMEDCT:75694006", "medgen:14586", "ICD10:K85.9", "HP:0001733"], "information_content": 74.2}
{"id": "HP:0000016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary retention", "equivalent_identifiers": ["HP:0000016", "UMLS:C0080274", "SNOMEDCT:130951007", "SNOMEDCT:267064002", "SNOMEDCT:449491000124101"], "information_content": 100.0}
{"id": "MONDO:0006769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastroparesis", "equivalent_identifiers": ["MONDO:0006769", "DOID:11914", "EFO:1000948", "UMLS:C0152020", "MESH:D018589", "MEDDRA:10003632", "MEDDRA:10003634", "MEDDRA:10017753", "MEDDRA:10017818", "MEDDRA:10018043", "MEDDRA:10033811", "MEDDRA:10042077", "NCIT:C80512", "SNOMEDCT:196753007", "SNOMEDCT:235675006", "medgen:101809", "icd11.foundation:598423727", "ICD10:K31.84", "ICD9:536.3", "HP:0002578"], "information_content": 95.4}
{"id": "MONDO:0009400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperprolinemia type 1", "equivalent_identifiers": ["MONDO:0009400", "DOID:0080542", "OMIM:239500", "orphanet:419", "UMLS:C0268529", "MEDDRA:10058511", "MEDDRA:10058513", "SNOMEDCT:61071003", "medgen:120645"], "information_content": 100.0}
{"id": "HP:0003137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolinuria", "equivalent_identifiers": ["HP:0003137", "UMLS:C0268534", "UMLS:C5779510", "SNOMEDCT:53124003"], "information_content": 95.4}
{"id": "HP:0003080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hydroxyprolinuria", "equivalent_identifiers": ["HP:0003080", "UMLS:C0948585", "MEDDRA:10053122"], "information_content": 100.0}
{"id": "MONDO:0007677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperglycinuria", "equivalent_identifiers": ["MONDO:0007677", "OMIM:138500", "UMLS:C0341706", "UMLS:C0543541", "MESH:C563009", "SNOMEDCT:236477004", "medgen:107456", "HP:0003108"], "information_content": 95.4}
{"id": "MONDO:0013849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 8, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0013849", "DOID:0070282", "OMIM:614673", "UMLS:C3553414", "medgen:766328"], "information_content": 100.0}
{"id": "MONDO:0009175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic fasciitis", "equivalent_identifiers": ["MONDO:0009175", "OMIM:226350", "orphanet:3165", "UMLS:C0264005", "MESH:C562487", "MEDDRA:10014954", "MEDDRA:10048450", "NCIT:C112116", "SNOMEDCT:24129002", "medgen:82673", "icd11.foundation:1977389237", "HP:0045029"], "information_content": 100.0}
{"id": "MONDO:0011098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostate cancer, hereditary, 1", "equivalent_identifiers": ["MONDO:0011098", "OMIM:601518", "UMLS:C4722327", "medgen:1648436"], "information_content": 100.0}
{"id": "MONDO:0008315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostate cancer", "equivalent_identifiers": ["MONDO:0008315", "DOID:10283", "UMLS:C0376358", "MESH:D011471", "MEDDRA:10007113", "MEDDRA:10026389", "MEDDRA:10036908", "MEDDRA:10036910", "MEDDRA:10036946", "MEDDRA:10060862", "NCIT:C7378", "SNOMEDCT:399068003", "medgen:138169", "ICD10:C61", "ICD9:185", "KEGG.DISEASE:05215", "HP:0012125"], "information_content": 63.6}
{"id": "MONDO:0018130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain dopamine-serotonin vesicular transport disease", "equivalent_identifiers": ["MONDO:0018130", "DOID:0070490", "OMIM:618049", "orphanet:352649", "UMLS:C4303546", "UMLS:C4747991", "SNOMEDCT:717942003", "medgen:929215"], "information_content": 100.0}
{"id": "HP:0002362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shuffling gait", "equivalent_identifiers": ["HP:0002362", "UMLS:C0231688", "MEDDRA:10017584", "SNOMEDCT:43005009"], "information_content": 95.4}
{"id": "HP:6000751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary dopamine level", "equivalent_identifiers": ["HP:6000751", "UMLS:C5937479"], "information_content": 100.0}
{"id": "HP:6000756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 5-hydroxyindoleacetic acid level", "equivalent_identifiers": ["HP:6000756", "UMLS:C5937484"], "information_content": 100.0}
{"id": "HP:0011977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary homovanillic acid", "equivalent_identifiers": ["HP:0011977", "UMLS:C4020736"], "information_content": 100.0}
{"id": "HP:0000338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomimic face", "equivalent_identifiers": ["HP:0000338", "NCIT:C182455", "UMLS:C0813217", "UMLS:C4280635", "MEDDRA:10091018", "SNOMEDCT:248149005"], "information_content": 100.0}
{"id": "HP:0005968", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temperature instability", "equivalent_identifiers": ["HP:0005968", "UMLS:C1820737", "UMLS:C3279038"], "information_content": 100.0}
{"id": "MONDO:0000483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculogyric crisis", "equivalent_identifiers": ["MONDO:0000483", "DOID:0050842", "UMLS:C0085637", "MEDDRA:10011396", "MEDDRA:10030071", "MEDDRA:10041391", "SNOMEDCT:5332004", "medgen:43221", "icd11.foundation:1191930451", "HP:0010553"], "information_content": 100.0}
{"id": "HP:0025403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stooped posture", "equivalent_identifiers": ["HP:0025403", "UMLS:C4476759", "MEDDRA:10086898"], "information_content": 100.0}
{"id": "MONDO:0100450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAPN5-related vitreoretinopathy", "equivalent_identifiers": ["MONDO:0100450", "DOID:9719", "OMIM:193235", "orphanet:329211", "UMLS:C4721549", "SNOMEDCT:770791000", "medgen:1648542"], "information_content": 100.0}
{"id": "HP:0030667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral retinal neovascularization", "equivalent_identifiers": ["HP:0030667", "UMLS:C0474355", "SNOMEDCT:247100001"], "information_content": 100.0}
{"id": "HP:0007902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vitreous hemorrhage", "equivalent_identifiers": ["HP:0007902", "EFO:0008626", "NCIT:C50469", "UMLS:C0042909", "MEDDRA:10047655", "MEDDRA:10047656", "MEDDRA:10071918", "MP:0006202", "SNOMEDCT:31341008", "MESH:D014823"], "information_content": 95.4}
{"id": "MONDO:0020283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveitis", "equivalent_identifiers": ["MONDO:0020283", "DOID:13141", "orphanet:98715", "EFO:1001231", "UMLS:C0042164", "MESH:D014605", "MEDDRA:10046851", "MEDDRA:10046855", "NCIT:C26909", "SNOMEDCT:128473001", "medgen:52961", "ICD10:H20.9", "HP:0000554"], "information_content": 74.3}
{"id": "HP:0007778", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior retinal neovascularization", "equivalent_identifiers": ["HP:0007778", "UMLS:C4024803"], "information_content": 100.0}
{"id": "HP:0007658", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large hyperpigmented retinal spots", "equivalent_identifiers": ["HP:0007658", "UMLS:C4024820"], "information_content": 100.0}
{"id": "MONDO:0012314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short QT syndrome type 3", "equivalent_identifiers": ["MONDO:0012314", "OMIM:609622", "UMLS:C1865018", "MESH:C566504", "medgen:400662"], "information_content": 100.0}
{"id": "HP:0012663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mildly reduced left ventricular ejection fraction", "equivalent_identifiers": ["HP:0012663", "UMLS:C4022793"], "information_content": 100.0}
{"id": "HP:0031972", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Presyncope", "equivalent_identifiers": ["HP:0031972", "NCIT:C80100", "UMLS:C0700200", "MEDDRA:10036507", "MEDDRA:10036653", "MEDDRA:10066203", "SNOMEDCT:427461000"], "information_content": 95.4}
{"id": "MONDO:0030329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 5", "equivalent_identifiers": ["MONDO:0030329", "OMIM:619431", "EFO:0020038", "UMLS:C5543636", "medgen:1782906"], "information_content": 100.0}
{"id": "MONDO:0013583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "occipital pachygyria and polymicrogyria", "equivalent_identifiers": ["MONDO:0013583", "OMIM:614115", "orphanet:280640", "UMLS:C3279875", "medgen:481505"], "information_content": 100.0}
{"id": "HP:0032909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal impaired awareness automatism seizure", "equivalent_identifiers": ["HP:0032909", "UMLS:C5397914", "SNOMEDCT:1269374009"], "information_content": 84.8}
{"id": "MONDO:0013575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plasma fibronectin deficiency", "equivalent_identifiers": ["MONDO:0013575", "OMIM:614101", "UMLS:C2675436", "medgen:436433"], "information_content": 100.0}
{"id": "HP:0032463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating fibronectin level", "equivalent_identifiers": ["HP:0032463", "UMLS:C5139361"], "information_content": 100.0}
{"id": "MONDO:0044309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 16", "equivalent_identifiers": ["MONDO:0044309", "DOID:0111893", "OMIM:617408", "UMLS:C4479424", "medgen:1385861"], "information_content": 100.0}
{"id": "MONDO:0008165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "southeast Asian ovalocytosis", "equivalent_identifiers": ["MONDO:0008165", "OMIM:166900", "orphanet:98868", "UMLS:C1862322", "MESH:C566231", "SNOMEDCT:191169008", "SNOMEDCT:723623002", "medgen:350649", "icd11.foundation:835618545"], "information_content": 100.0}
{"id": "MONDO:0012321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 10", "equivalent_identifiers": ["MONDO:0012321", "DOID:0110043", "OMIM:609636", "UMLS:C1864828", "MESH:C566465", "medgen:351228"], "information_content": 100.0}
{"id": "MONDO:0004975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease", "equivalent_identifiers": ["MONDO:0004975", "DOID:10652", "UMLS:C0002395", "MESH:D000544", "MEDDRA:10001896", "MEDDRA:10012271", "MEDDRA:10012292", "NCIT:C2866", "SNOMEDCT:142811000119104", "SNOMEDCT:230267005", "SNOMEDCT:26929004", "medgen:1853", "icd11.foundation:1611724421", "ICD9:331.0", "KEGG.DISEASE:05010", "HP:0002511"], "information_content": 72.7}
{"id": "MONDO:0014743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic chondrodysplasia punctata type 5", "equivalent_identifiers": ["MONDO:0014743", "DOID:0110854", "OMIM:616716", "orphanet:468717", "UMLS:C4225237", "medgen:900333"], "information_content": 100.0}
{"id": "HP:0010544", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertical nystagmus", "equivalent_identifiers": ["HP:0010544", "UMLS:C0271386", "SNOMEDCT:111533001"], "information_content": 92.8}
{"id": "HP:0006150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Swan neck-like deformities of the fingers", "equivalent_identifiers": ["HP:0006150", "UMLS:C1849152"], "information_content": 100.0}
{"id": "HP:0005781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contractures of the large joints", "equivalent_identifiers": ["HP:0005781", "UMLS:C1859698"], "information_content": 100.0}
{"id": "HP:0005041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular capital femoral epiphysis", "equivalent_identifiers": ["HP:0005041", "UMLS:C4020825"], "information_content": 100.0}
{"id": "HP:0002868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow iliac wing", "equivalent_identifiers": ["HP:0002868", "UMLS:C1836688"], "information_content": 100.0}
{"id": "MONDO:0030326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)", "equivalent_identifiers": ["MONDO:0030326", "DOID:0070447", "OMIM:619425", "UMLS:C5543632", "medgen:1780329"], "information_content": 100.0}
{"id": "MONDO:0001119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature menopause", "equivalent_identifiers": ["MONDO:0001119", "DOID:10787", "EFO:0009005", "UMLS:C0025322", "MESH:D008594", "MEDDRA:10014045", "MEDDRA:10027312", "MEDDRA:10036601", "MEDDRA:10066271", "NCIT:C80099", "SNOMEDCT:237788002", "SNOMEDCT:373717006", "medgen:9963", "ICD10:E28.31", "ICD9:256.31", "HP:0008209"], "information_content": 95.4}
{"id": "MONDO:0001836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amenorrhea", "equivalent_identifiers": ["MONDO:0001836", "DOID:13938", "EFO:0010269", "UMLS:C0002453", "UMLS:C2219717", "MESH:D000568", "MEDDRA:10000326", "MEDDRA:10001927", "MEDDRA:10001928", "MEDDRA:10001929", "MEDDRA:10027319", "NCIT:C61443", "SNOMEDCT:14302001", "medgen:8016", "ICD10:N91.2", "ICD9:626.0", "HP:0000141"], "information_content": 80.9}
{"id": "MONDO:0100553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "OPTN-related open angle glaucoma", "equivalent_identifiers": ["MONDO:0100553", "OMIM:137760", "UMLS:C0339573", "UMLS:C1842026", "UMLS:C3278152", "MESH:C564233", "MEDDRA:10036719", "NCIT:C35394", "SNOMEDCT:77075001", "medgen:87389", "HP:0012108"], "information_content": 100.0}
{"id": "MONDO:0859155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1p36 deletion syndrome, proximal", "equivalent_identifiers": ["MONDO:0859155", "OMIM:619343", "UMLS:C5562114", "medgen:1794324"], "information_content": 100.0}
{"id": "HP:0000242", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parietal bossing", "equivalent_identifiers": ["HP:0000242", "UMLS:C1857126"], "information_content": 100.0}
{"id": "MONDO:0016081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary arterial fistulas", "equivalent_identifiers": ["MONDO:0016081", "orphanet:2041", "UMLS:C0265898", "MEDDRA:10069441", "SNOMEDCT:373093003", "medgen:488822", "HP:0011641"], "information_content": 89.4}
{"id": "MONDO:0011656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paget disease of bone 4", "equivalent_identifiers": ["MONDO:0011656", "DOID:0081367", "OMIM:606263", "UMLS:C1853473", "MESH:C565240", "medgen:339991"], "information_content": 100.0}
{"id": "MONDO:0043731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lytic lesion", "equivalent_identifiers": ["MONDO:0043731", "UMLS:C0221204", "UMLS:C0302313", "UMLS:C4721411", "MESH:D010014", "MEDDRA:10031248", "MEDDRA:10038642", "MEDDRA:10051544", "NCIT:C35371", "NCIT:C41040", "NCIT:C50681", "SNOMEDCT:203522001", "SNOMEDCT:30425001", "medgen:137065", "HP:0002797"], "information_content": 71.7}
{"id": "MONDO:0013140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "candidiasis, familial, 4", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013140", "OMIM:613108", "UMLS:C0341024", "SNOMEDCT:235073000", "medgen:90958"], "information_content": 100.0}
{"id": "MONDO:0001628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea unguium", "equivalent_identifiers": ["MONDO:0001628", "DOID:13074", "UMLS:C0007644", "UMLS:C0040261", "MESH:D014009", "MEDDRA:10017535", "MEDDRA:10028699", "MEDDRA:10030338", "MEDDRA:10039188", "MEDDRA:10043874", "NCIT:C112214", "SNOMEDCT:414941008", "medgen:11825", "ICD9:681.9", "HP:0012203"], "information_content": 100.0}
{"id": "HP:0012204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent vulvovaginal candidiasis", "equivalent_identifiers": ["HP:0012204", "NCIT:C186433", "UMLS:C4023003"], "information_content": 100.0}
{"id": "MONDO:0009900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polysyndactyly-cardiac malformation syndrome", "equivalent_identifiers": ["MONDO:0009900", "OMIM:263630", "orphanet:2934", "UMLS:C1849719", "MESH:C564875", "SNOMEDCT:724066002", "medgen:337895"], "information_content": 100.0}
{"id": "HP:0010066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of phalanx of hallux", "equivalent_identifiers": ["HP:0010066", "UMLS:C1860164", "UMLS:C4020691"], "information_content": 84.8}
{"id": "MONDO:0007201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BPES type I", "equivalent_identifiers": ["MONDO:0007201", "DOID:14778", "OMIM:110100", "orphanet:126", "UMLS:C0220663", "UMLS:C1862260", "UMLS:C1862261", "UMLS:C1862262", "UMLS:C1862263", "UMLS:C1862264", "MESH:C562419", "MESH:C566222", "MEDDRA:10081258", "MEDDRA:10081259", "MEDDRA:10081260", "MEDDRA:10081261", "SNOMEDCT:715391004", "medgen:66312"], "information_content": 88.2}
{"id": "MONDO:0021124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female infertility", "equivalent_identifiers": ["MONDO:0021124", "EFO:0008560", "UMLS:C0021361", "MESH:D007247", "MEDDRA:10016398", "MEDDRA:10021928", "MEDDRA:10021940", "NCIT:C181774", "SNOMEDCT:6738008", "medgen:5795", "icd11.foundation:1237004558", "HP:0008222"], "information_content": 71.3}
{"id": "HP:0000769", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the breast", "equivalent_identifiers": ["HP:0000769", "UMLS:C4025829"], "information_content": 73.1}
{"id": "MONDO:0012004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parathyroid gland carcinoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0012004", "DOID:1540", "OMIM:608266", "orphanet:143", "EFO:1000456", "UMLS:C0687150", "NCIT:C4906", "SNOMEDCT:255037004", "medgen:146361", "ICD10:C75.0", "ICD9:194.1", "HP:0006780"], "information_content": 85.5}
{"id": "MONDO:0011787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "equivalent_identifiers": ["MONDO:0011787", "DOID:0110299", "OMIM:607155", "orphanet:34515", "UMLS:C1846672", "MESH:C564612", "NCIT:C126739", "SNOMEDCT:718180000", "medgen:339580"], "information_content": 100.0}
{"id": "HP:0002877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nocturnal hypoventilation", "equivalent_identifiers": ["HP:0002877", "UMLS:C1843643", "MEDDRA:10088137"], "information_content": 100.0}
{"id": "HP:0005162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal left ventricular function", "equivalent_identifiers": ["HP:0005162", "NCIT:C50629", "NCIT:C50630", "UMLS:C0023212", "UMLS:C0242698", "UMLS:C0553982", "MEDDRA:10007561", "MEDDRA:10016147", "MEDDRA:10016151", "MEDDRA:10024102", "MEDDRA:10024106", "MEDDRA:10024119", "MEDDRA:10024120", "MEDDRA:10025163", "MEDDRA:10049694", "MEDDRA:10060948", "SNOMEDCT:275514001", "SNOMEDCT:85232009", "MESH:D018487"], "information_content": 80.2}
{"id": "HP:0008305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced myoglobinuria", "equivalent_identifiers": ["HP:0008305", "UMLS:C1845155", "UMLS:C1860069"], "information_content": 100.0}
{"id": "HP:0003733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thigh hypertrophy", "equivalent_identifiers": ["HP:0003733", "UMLS:C1846674"], "information_content": 100.0}
{"id": "HP:0006684", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular preexcitation with multiple accessory pathways", "equivalent_identifiers": ["HP:0006684", "UMLS:C4025004"], "information_content": 100.0}
{"id": "HP:0004309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular preexcitation", "equivalent_identifiers": ["HP:0004309", "UMLS:C0559106", "MEDDRA:10049761", "SNOMEDCT:195060002"], "information_content": 92.8}
{"id": "MONDO:0005310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial flutter", "equivalent_identifiers": ["MONDO:0005310", "EFO:0003911", "UMLS:C0004239", "MESH:D001282", "MEDDRA:10003662", "MEDDRA:10016827", "NCIT:C51224", "SNOMEDCT:5370000", "medgen:13955", "HP:0004749"], "information_content": 92.8}
{"id": "HP:0006677", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged QRS complex", "equivalent_identifiers": ["HP:0006677", "UMLS:C0235475", "UMLS:C2215975", "MEDDRA:10014380", "MEDDRA:10036886", "MEDDRA:10037694", "MEDDRA:10037695", "MEDDRA:10037697", "MEDDRA:10037698", "MEDDRA:10037699", "SNOMEDCT:991002"], "information_content": 100.0}
{"id": "MONDO:0054847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 7", "equivalent_identifiers": ["MONDO:0054847", "DOID:0111694", "OMIM:618075", "UMLS:C4748080", "medgen:1648435"], "information_content": 100.0}
{"id": "HP:0033054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myoclonic tremor", "equivalent_identifiers": ["HP:0033054", "UMLS:C5421572"], "information_content": 100.0}
{"id": "MONDO:0013146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 7", "equivalent_identifiers": ["MONDO:0013146", "DOID:0110224", "OMIM:613120", "UMLS:C2751088", "MESH:C567734", "medgen:413472"], "information_content": 100.0}
{"id": "HP:0034308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged P wave", "equivalent_identifiers": ["HP:0034308", "UMLS:C0429022", "SNOMEDCT:251205003"], "information_content": 100.0}
{"id": "MONDO:0013961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 16 with or without anosmia", "equivalent_identifiers": ["MONDO:0013961", "DOID:0090080", "OMIM:614897", "UMLS:C3554021", "medgen:766935"], "information_content": 100.0}
{"id": "HP:0040326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the olfactory bulb", "equivalent_identifiers": ["HP:0040326", "UMLS:C4477049"], "information_content": 95.4}
{"id": "MONDO:0014246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic pain syndrome, familial, 2", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0014246", "DOID:0111730", "OMIM:615551", "UMLS:C3809893", "medgen:816223"], "information_content": 100.0}
{"id": "HP:0012534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysesthesia", "equivalent_identifiers": ["HP:0012534", "NCIT:C28246", "NCIT:C34703", "UMLS:C0020429", "UMLS:C0392699", "MEDDRA:10013886", "MEDDRA:10020573", "MEDDRA:10062872", "MEDDRA:10065952", "SNOMEDCT:279079003", "SNOMEDCT:55406008", "MESH:D006930"], "information_content": 92.8}
{"id": "MONDO:0020718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital short bowel syndrome, autosomal recessive", "equivalent_identifiers": ["MONDO:0020718", "OMIM:615237"], "information_content": 100.0}
{"id": "HP:0030897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased intestinal transit time", "equivalent_identifiers": ["HP:0030897", "UMLS:C3805050", "MEDDRA:10074598"], "information_content": 100.0}
{"id": "HP:0002587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Projectile vomiting", "equivalent_identifiers": ["HP:0002587", "NCIT:C113480", "UMLS:C0221151", "MEDDRA:10047708", "MEDDRA:10074195", "SNOMEDCT:8579004"], "information_content": 100.0}
{"id": "MONDO:0001075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "steatorrhea", "equivalent_identifiers": ["MONDO:0001075", "UMLS:C0038238", "MESH:D045602", "MEDDRA:10016086", "MEDDRA:10016266", "MEDDRA:10016293", "MEDDRA:10041968", "MEDDRA:10041969", "NCIT:C86917", "SNOMEDCT:27868004", "SNOMEDCT:66187002", "medgen:20948", "HP:0002570"], "information_content": 89.4}
{"id": "HP:0030914", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal peristalsis", "equivalent_identifiers": ["HP:0030914", "UMLS:C1291045"], "information_content": 89.4}
{"id": "HP:0030889", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short bowel", "equivalent_identifiers": ["HP:0030889", "UMLS:C4293687", "UMLS:C4476847"], "information_content": 100.0}
{"id": "HP:0001984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intolerance to protein", "equivalent_identifiers": ["HP:0001984", "UMLS:C1396243", "MEDDRA:10082917"], "information_content": 95.4}
{"id": "MONDO:0008103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "noduli Cutanei, multiple, with urinary tract abnormalities", "equivalent_identifiers": ["MONDO:0008103", "OMIM:163850", "UMLS:C1834143", "MESH:C563512", "medgen:371746"], "information_content": 100.0}
{"id": "MONDO:0013341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic acidemia due to transcobalamin receptor defect", "equivalent_identifiers": ["MONDO:0013341", "DOID:0060741", "OMIM:613646", "orphanet:280183", "UMLS:C4749905", "NCIT:C183527", "SNOMEDCT:771444002", "medgen:1670056"], "information_content": 100.0}
{"id": "HP:0034985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced cellular cobalamin uptake", "equivalent_identifiers": ["HP:0034985", "UMLS:C5826812"], "information_content": 100.0}
{"id": "MONDO:0013588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome 3", "equivalent_identifiers": ["MONDO:0013588", "OMIM:614129", "UMLS:C3808414", "medgen:814744"], "information_content": 100.0}
{"id": "MONDO:0008037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelinated optic nerve fibers", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008037", "OMIM:159500", "UMLS:C1834600", "medgen:320388"], "information_content": 100.0}
{"id": "MONDO:0032876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with absent language and variable seizures", "equivalent_identifiers": ["MONDO:0032876", "OMIM:618707", "EFO:0010657", "UMLS:C5231469", "medgen:1684803"], "information_content": 100.0}
{"id": "MONDO:0007229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 4th toe", "equivalent_identifiers": ["MONDO:0007229", "OMIM:113475", "UMLS:C1862083", "medgen:396286", "HP:0008093"], "information_content": 100.0}
{"id": "HP:0005643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 3rd toe", "equivalent_identifiers": ["HP:0005643", "UMLS:C4021628"], "information_content": 100.0}
{"id": "MONDO:0958182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C1Q deficiency 1", "equivalent_identifiers": ["MONDO:0958182", "OMIM:613652"], "information_content": 100.0}
{"id": "MONDO:0007179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autoimmunity", "equivalent_identifiers": ["MONDO:0007179", "DOID:417", "OMIM:109100", "EFO:0005809", "UMLS:C0003089", "UMLS:C0004364", "UMLS:C0004368", "MESH:D001327", "MESH:D015551", "MEDDRA:10003815", "MEDDRA:10003816", "MEDDRA:10061664", "MEDDRA:10087821", "NCIT:C2889", "SNOMEDCT:4301008", "SNOMEDCT:85828009", "medgen:2135", "ICD9:720", "HP:0002960"], "information_content": 58.2}
{"id": "MONDO:0007915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EXCESS LMW-DNA", "equivalent_identifiers": ["MONDO:0007915", "DOID:9074", "OMIM:152700", "orphanet:536", "UMLS:C0024141", "UMLS:C1835309", "MESH:D008180", "MEDDRA:10013446", "MEDDRA:10024065", "MEDDRA:10024067", "MEDDRA:10025133", "MEDDRA:10025139", "MEDDRA:10025142", "MEDDRA:10040967", "MEDDRA:10042800", "MEDDRA:10042820", "MEDDRA:10042944", "MEDDRA:10042945", "MEDDRA:10042947", "NCIT:C3201", "SNOMEDCT:55464009", "medgen:6146", "icd11.foundation:749596428", "ICD10:M32.9", "ICD9:710.0", "KEGG.DISEASE:05322", "HP:0002725"], "information_content": 78.0}
{"id": "MONDO:0009224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal iodine syndrome", "equivalent_identifiers": ["MONDO:0009224", "OMIM:228355", "orphanet:1910", "UMLS:C0342200", "UMLS:C4273860", "NCIT:C98921", "SNOMEDCT:718228001", "SNOMEDCT:75065003", "medgen:907922"], "information_content": 100.0}
{"id": "HP:0008251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital goiter", "equivalent_identifiers": ["HP:0008251", "UMLS:C0349476", "MEDDRA:10010487", "MEDDRA:10018492", "MEDDRA:10018499", "SNOMEDCT:276565004"], "information_content": 100.0}
{"id": "MONDO:0007058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acropectorovertebral dysplasia", "equivalent_identifiers": ["MONDO:0007058", "OMIM:102510", "orphanet:957", "UMLS:C1863307", "MESH:C566319", "SNOMEDCT:720457000", "medgen:400262", "icd11.foundation:1013313909"], "information_content": 100.0}
{"id": "HP:0005048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synostosis of carpal bones", "equivalent_identifiers": ["HP:0005048", "UMLS:C1836193"], "information_content": 100.0}
{"id": "HP:0009467", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial deviation of the 2nd finger", "equivalent_identifiers": ["HP:0009467", "UMLS:C1844709"], "information_content": 100.0}
{"id": "HP:0009611", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009611", "UMLS:C1860162"], "information_content": 100.0}
{"id": "HP:0004614", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spina bifida occulta at S1", "equivalent_identifiers": ["HP:0004614", "UMLS:C4025304"], "information_content": 100.0}
{"id": "HP:0004601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spina bifida occulta at L5", "equivalent_identifiers": ["HP:0004601", "UMLS:C4025308"], "information_content": 100.0}
{"id": "MONDO:0008822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, renal dysfunction, and cholestasis 1", "equivalent_identifiers": ["MONDO:0008822", "DOID:0111353", "OMIM:208085", "UMLS:C1859722", "medgen:347219"], "information_content": 100.0}
{"id": "HP:0034714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic melanin-like lysosomal pigmentation", "equivalent_identifiers": ["HP:0034714", "UMLS:C5826606"], "information_content": 100.0}
{"id": "HP:0200084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giant cell hepatitis", "equivalent_identifiers": ["HP:0200084", "NCIT:C84446", "UMLS:C0027613", "UMLS:C2673820", "UMLS:C2675624", "UMLS:C4020697", "MEDDRA:10019785", "SNOMEDCT:69800000"], "information_content": 100.0}
{"id": "HP:0001884", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talipes calcaneovalgus", "equivalent_identifiers": ["HP:0001884", "UMLS:C0152237", "SNOMEDCT:299466008"], "information_content": 95.4}
{"id": "HP:0005248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intrahepatic biliary atresia", "equivalent_identifiers": ["HP:0005248", "UMLS:C1855284"], "information_content": 100.0}
{"id": "MONDO:0016383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrogenic diabetes insipidus", "equivalent_identifiers": ["MONDO:0016383", "DOID:12387", "orphanet:223", "UMLS:C0162283", "MESH:D018500", "MEDDRA:10012600", "MEDDRA:10029147", "NCIT:C84919", "SNOMEDCT:111395007", "medgen:57876", "icd11.foundation:1417669099", "ICD10:N25.1", "ICD9:588.1", "HP:0009806"], "information_content": 92.8}
{"id": "MONDO:0010058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scapuloperoneal spinal muscular atrophy, autosomal recessive", "equivalent_identifiers": ["MONDO:0010058", "OMIM:271220"], "information_content": 100.0}
{"id": "HP:0009049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peroneal muscle atrophy", "equivalent_identifiers": ["HP:0009049", "UMLS:C1389118"], "information_content": 100.0}
{"id": "HP:0009060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scapular muscle atrophy", "equivalent_identifiers": ["HP:0009060", "UMLS:C3805969"], "information_content": 100.0}
{"id": "MONDO:0013949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 11A (Zellweger)", "equivalent_identifiers": ["MONDO:0013949", "DOID:0080485", "OMIM:614883", "UMLS:C1866259", "UMLS:C1866260", "UMLS:C3554000", "MESH:C566625", "MESH:C566626", "medgen:766914"], "information_content": 100.0}
{"id": "HP:0008947", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Floppy infant", "equivalent_identifiers": ["HP:0008947", "UMLS:C1860834"], "information_content": 100.0}
{"id": "HP:0100729", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large face", "equivalent_identifiers": ["HP:0100729", "UMLS:C2748652"], "information_content": 88.2}
{"id": "OMIM:223200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DISORGANIZATION, MOUSE, HOMOLOG OF", "equivalent_identifiers": ["OMIM:223200", "UMLS:C1857230"]}
{"id": "MONDO:0006574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipomatosis", "equivalent_identifiers": ["MONDO:0006574", "DOID:3153", "EFO:1000728", "UMLS:C0023801", "UMLS:C0745730", "MESH:D008068", "MEDDRA:10051847", "MEDDRA:10061228", "NCIT:C3193", "SNOMEDCT:37095002", "SNOMEDCT:402693001", "SNOMEDCT:404062002", "medgen:9781", "ICD10:E88.2", "HP:0001012"], "information_content": 84.2}
{"id": "HP:0012033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacral lipoma", "equivalent_identifiers": ["HP:0012033", "UMLS:C4021835"], "information_content": 100.0}
{"id": "HP:0005765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacral meningocele", "equivalent_identifiers": ["HP:0005765", "NCIT:C101207", "NCIT:C101212", "UMLS:C0521556", "SNOMEDCT:95478002"], "information_content": 95.4}
{"id": "HP:0100524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dimelia", "equivalent_identifiers": ["HP:0100524", "UMLS:C0265551", "SNOMEDCT:34488005"], "information_content": 100.0}
{"id": "HP:0005217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal organ duplication", "equivalent_identifiers": ["HP:0005217", "UMLS:C4025234"], "information_content": 90.9}
{"id": "MONDO:0054842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 6 with or without polycystic liver disease", "equivalent_identifiers": ["MONDO:0054842", "DOID:0060951", "OMIM:618061", "UMLS:C4748044", "medgen:1648469"], "information_content": 100.0}
{"id": "MONDO:0019917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 20", "equivalent_identifiers": ["MONDO:0019917", "DOID:0111714", "OMIM:617352", "orphanet:96186", "UMLS:C4275029", "SNOMEDCT:715735007", "medgen:909388", "icd11.foundation:700797720"], "information_content": 100.0}
{"id": "MONDO:0957791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction", "equivalent_identifiers": ["MONDO:0957791", "OMIM:620515", "UMLS:C5882695", "medgen:1846192"], "information_content": 100.0}
{"id": "MONDO:0013934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to STK4 deficiency", "equivalent_identifiers": ["MONDO:0013934", "OMIM:614868", "orphanet:314689", "UMLS:C3553943", "medgen:766857"], "information_content": 100.0}
{"id": "HP:0032185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disseminated molluscum contagiosum", "equivalent_identifiers": ["HP:0032185", "UMLS:C5139182"], "information_content": 100.0}
{"id": "HP:0004429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent viral infections", "equivalent_identifiers": ["HP:0004429", "UMLS:C1837066", "SNOMEDCT:452021000124103"], "information_content": 75.7}
{"id": "HP:0002841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent fungal infections", "equivalent_identifiers": ["HP:0002841", "NCIT:C186485", "UMLS:C1844384"], "information_content": 84.2}
{"id": "MONDO:0013468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 59", "equivalent_identifiers": ["MONDO:0013468", "DOID:0110352", "OMIM:613861", "UMLS:C3151227", "medgen:462577"], "information_content": 100.0}
{"id": "MONDO:0008930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "celiac disease, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0008930", "OMIM:212750", "UMLS:C1859310", "medgen:395227"], "information_content": 100.0}
{"id": "HP:0100507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced blood folate concentration", "equivalent_identifiers": ["HP:0100507", "EFO:0001070", "UMLS:C0016412", "MEDDRA:10016880", "MEDDRA:10016893", "SNOMEDCT:190633005", "MESH:D005494"], "information_content": 100.0}
{"id": "HP:0004298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the abdominal wall", "equivalent_identifiers": ["HP:0004298", "UMLS:C4021664"], "information_content": 71.1}
{"id": "MONDO:0001244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin K deficiency hemorrhagic disease", "equivalent_identifiers": ["MONDO:0001244", "DOID:11249", "UMLS:C0042880", "UMLS:C0272348", "UMLS:C5139061", "MESH:D014813", "MEDDRA:10012136", "MEDDRA:10047634", "NCIT:C99108", "SNOMEDCT:1286003", "SNOMEDCT:52675005", "medgen:543992", "ICD10:E56.1", "ICD9:269.0", "HP:0011892"], "information_content": 95.4}
{"id": "MONDO:0004842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stomatitis", "equivalent_identifiers": ["MONDO:0004842", "DOID:9637", "EFO:0009688", "UMLS:C0038362", "UMLS:C0149704", "MESH:D013280", "MEDDRA:10028130", "MEDDRA:10042128", "MEDDRA:10067244", "NCIT:C26887", "SNOMEDCT:20607006", "SNOMEDCT:61170000", "medgen:52511", "HP:0010280"], "information_content": 79.6}
{"id": "MONDO:0030062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia, familial, 14", "equivalent_identifiers": ["MONDO:0030062", "DOID:0080959", "OMIM:618920", "UMLS:C5394505", "medgen:1712001"], "information_content": 100.0}
{"id": "HP:0005133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right ventricular dilatation", "equivalent_identifiers": ["HP:0005133", "UMLS:C0344893", "MEDDRA:10074222", "SNOMEDCT:253522006"], "information_content": 100.0}
{"id": "HP:0011713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left bundle branch block", "equivalent_identifiers": ["HP:0011713", "UMLS:C0023211", "MEDDRA:10006580", "MEDDRA:10024046", "MEDDRA:10024100", "SNOMEDCT:63467002"], "information_content": 92.8}
{"id": "MONDO:0008503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Worster-Drought syndrome", "equivalent_identifiers": ["MONDO:0008503", "OMIM:185480", "orphanet:3465", "UMLS:C0796204", "MESH:C536747", "SNOMEDCT:716335003", "medgen:163228", "icd11.foundation:1834138618"], "information_content": 100.0}
{"id": "MONDO:0976268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea 15, congenital", "equivalent_identifiers": ["MONDO:0976268", "OMIM:621179"], "information_content": 100.0}
{"id": "HP:0033994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dependency on parenteral nutrition", "equivalent_identifiers": ["HP:0033994", "UMLS:C5558370"], "information_content": 100.0}
{"id": "MONDO:0008402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Say syndrome", "equivalent_identifiers": ["MONDO:0008402", "OMIM:181180", "orphanet:2013", "UMLS:C1867023", "MESH:C536621", "SNOMEDCT:763130006", "medgen:357895"], "information_content": 100.0}
{"id": "HP:0009463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviation of the 3rd finger", "equivalent_identifiers": ["HP:0009463", "UMLS:C3554614"], "information_content": 100.0}
{"id": "MONDO:0008369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal renal tubular acidosis", "equivalent_identifiers": ["MONDO:0008369", "OMIM:179830", "orphanet:47159", "UMLS:C0268435", "MEDDRA:10037080", "NCIT:C123218", "SNOMEDCT:24790002", "medgen:82804", "HP:0002049"], "information_content": 92.8}
{"id": "MONDO:0010726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rett syndrome", "equivalent_identifiers": ["MONDO:0010726", "DOID:1206", "OMIM:312750", "orphanet:778", "UMLS:C0035372", "UMLS:C1839332", "UMLS:C2677682", "MESH:C564063", "MESH:C567442", "MESH:D015518", "MEDDRA:10039000", "MEDDRA:10077709", "NCIT:C75488", "SNOMEDCT:68618008", "medgen:48441", "icd11.foundation:201200685", "ICD10:F84.2"], "information_content": 90.9}
{"id": "HP:0005135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal T-wave", "equivalent_identifiers": ["HP:0005135", "NCIT:C71083", "UMLS:C1839341", "UMLS:C4025245"], "information_content": 88.2}
{"id": "HP:0012171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stereotypical hand wringing", "equivalent_identifiers": ["HP:0012171", "UMLS:C0562479", "UMLS:C4023014", "SNOMEDCT:41996009"], "information_content": 100.0}
{"id": "HP:0004879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent hyperventilation", "equivalent_identifiers": ["HP:0004879", "UMLS:C1828017", "SNOMEDCT:423427003"], "information_content": 95.4}
{"id": "HP:0002333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor deterioration", "equivalent_identifiers": ["HP:0002333", "UMLS:C1866284"], "information_content": 100.0}
{"id": "MONDO:0002443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bruxism", "equivalent_identifiers": ["MONDO:0002443", "DOID:2846", "UMLS:C0006325", "UMLS:C0393774", "UMLS:C0751771", "MESH:D002012", "MESH:D020186", "MEDDRA:10006514", "MEDDRA:10006515", "MEDDRA:10018489", "MEDDRA:10018725", "MEDDRA:10043175", "MEDDRA:10043176", "MEDDRA:10043182", "MEDDRA:10089085", "NCIT:C73511", "SNOMEDCT:191983006", "SNOMEDCT:274950005", "SNOMEDCT:90207007", "medgen:676", "icd11.foundation:1046319083", "ICD10:F45.8", "ICD10:G47.63", "ICD9:327.53", "HP:0003763"], "information_content": 95.4}
{"id": "HP:0004326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cachexia", "equivalent_identifiers": ["HP:0004326", "NCIT:C2913", "UMLS:C0006625", "UMLS:C0563273", "MEDDRA:10006895", "SNOMEDCT:238108007", "SNOMEDCT:285384003", "MESH:D002100"], "information_content": 92.8}
{"id": "MONDO:0008322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoachondroplasia", "equivalent_identifiers": ["MONDO:0008322", "DOID:0080047", "OMIM:177170", "orphanet:750", "UMLS:C0410538", "MESH:C535819", "NCIT:C118635", "SNOMEDCT:22567005", "medgen:98378", "icd11.foundation:1192649257"], "information_content": 100.0}
{"id": "HP:0001498", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpal bone hypoplasia", "equivalent_identifiers": ["HP:0001498", "UMLS:C1863749", "UMLS:C4280594"], "information_content": 90.9}
{"id": "HP:0002341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical cord compression", "equivalent_identifiers": ["HP:0002341", "UMLS:C0852866", "MEDDRA:10008252"], "information_content": 100.0}
{"id": "HP:0004042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar metaphyseal irregularity", "equivalent_identifiers": ["HP:0004042", "UMLS:C4021688"], "information_content": 100.0}
{"id": "HP:0003093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited hip extension", "equivalent_identifiers": ["HP:0003093", "UMLS:C3553368"], "information_content": 100.0}
{"id": "HP:0012307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spatulate ribs", "equivalent_identifiers": ["HP:0012307", "UMLS:C1856637"], "information_content": 100.0}
{"id": "HP:0002834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared femoral metaphysis", "equivalent_identifiers": ["HP:0002834", "UMLS:C4025674"], "information_content": 100.0}
{"id": "HP:0004019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial metaphyseal irregularity", "equivalent_identifiers": ["HP:0004019", "UMLS:C4021692"], "information_content": 100.0}
{"id": "HP:0004236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular carpal bones", "equivalent_identifiers": ["HP:0004236", "UMLS:C4025401"], "information_content": 100.0}
{"id": "HP:0003049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviation of the wrist", "equivalent_identifiers": ["HP:0003049", "UMLS:C0231678", "SNOMEDCT:43689004"], "information_content": 100.0}
{"id": "HP:0010236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small epiphyses of the phalanges of the hand", "equivalent_identifiers": ["HP:0010236", "UMLS:C4021305"], "information_content": 79.0}
{"id": "HP:0005063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fragmented, irregular epiphyses", "equivalent_identifiers": ["HP:0005063", "UMLS:C1867494"], "information_content": 100.0}
{"id": "HP:0011405", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Childhood onset short-limb short stature", "equivalent_identifiers": ["HP:0011405", "UMLS:C1867487"], "information_content": 100.0}
{"id": "HP:0100168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fragmented epiphyses", "equivalent_identifiers": ["HP:0100168", "UMLS:C4022253"], "information_content": 72.6}
{"id": "HP:0004568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beaking of vertebral bodies", "equivalent_identifiers": ["HP:0004568", "UMLS:C0264112", "UMLS:C1856599", "MEDDRA:10065317", "SNOMEDCT:19888007"], "information_content": 88.2}
{"id": "HP:0003414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atlantoaxial dislocation", "equivalent_identifiers": ["HP:0003414", "UMLS:C0263905", "MEDDRA:10083338", "SNOMEDCT:263042007", "SNOMEDCT:45179004"], "information_content": 95.4}
{"id": "MONDO:0957595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ziegler-Huang syndrome", "equivalent_identifiers": ["MONDO:0957595", "OMIM:620501", "UMLS:C5882688", "medgen:1844409"], "information_content": 100.0}
{"id": "HP:0031688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythroid dysplasia", "equivalent_identifiers": ["HP:0031688", "NCIT:C94827", "UMLS:C0221143", "UMLS:C2987488", "MEDDRA:10086470", "MEDDRA:10086475", "SNOMEDCT:18661009"], "information_content": 100.0}
{"id": "HP:0005548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megakaryocytopenia", "equivalent_identifiers": ["HP:0005548", "UMLS:C1858312"], "information_content": 92.8}
{"id": "MONDO:0010306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Cabezas type", "equivalent_identifiers": ["MONDO:0010306", "DOID:0060822", "OMIM:300354", "orphanet:85293", "UMLS:C1845861", "MESH:C567069", "NCIT:C167216", "SNOMEDCT:719811001", "medgen:337334"], "information_content": 100.0}
{"id": "HP:0012743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal obesity", "equivalent_identifiers": ["HP:0012743", "UMLS:C0311277", "MEDDRA:10059179", "MESH:D056128"], "information_content": 100.0}
{"id": "MONDO:0030307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 55", "equivalent_identifiers": ["MONDO:0030307", "DOID:0112337", "OMIM:619380", "UMLS:C5543580", "medgen:1781781"], "information_content": 100.0}
{"id": "MONDO:0008725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital lipoid adrenal hyperplasia due to STAR deficency", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0008725", "OMIM:201710", "orphanet:90790", "UMLS:C0342474", "MESH:C537027", "MEDDRA:10000020", "NCIT:C131426", "SNOMEDCT:44231009", "medgen:83341"], "information_content": 92.8}
{"id": "MONDO:0018479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital adrenal hyperplasia", "equivalent_identifiers": ["MONDO:0018479", "DOID:0050811", "orphanet:418", "UMLS:C0001627", "MESH:D000312", "MEDDRA:10010323", "NCIT:C34360", "SNOMEDCT:237751000", "medgen:7900", "icd11.foundation:172733763", "ICD10:E25", "ICD9:255.2", "HP:0008258"], "information_content": 82.6}
{"id": "MONDO:0015898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenogenital syndrome", "equivalent_identifiers": ["MONDO:0015898", "orphanet:181412", "UMLS:C0302280", "UMLS:C0701163", "MESH:D047808", "MEDDRA:10001383", "MEDDRA:10001400", "MEDDRA:10001401", "MEDDRA:10061630", "MEDDRA:10067952", "SNOMEDCT:267395000", "SNOMEDCT:271077003", "medgen:86215", "icd11.foundation:131153029", "HP:0000840"], "information_content": 80.2}
{"id": "MONDO:0014267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to IKK2 deficiency", "equivalent_identifiers": ["MONDO:0014267", "DOID:0111959", "OMIM:615592", "orphanet:397787", "UMLS:C4747743", "medgen:1648569"], "information_content": 100.0}
{"id": "MONDO:0015977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia", "equivalent_identifiers": ["MONDO:0015977", "DOID:2583", "OMIM.PS:601495", "orphanet:183669", "UMLS:C0001768", "MESH:D000361", "MEDDRA:10001470", "MEDDRA:10001471", "SNOMEDCT:119249001", "medgen:168", "ICD10:D80.1", "ICD9:279.00", "HP:0004432"], "information_content": 74.9}
{"id": "HP:0009098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic oral candidiasis", "equivalent_identifiers": ["HP:0009098", "UMLS:C4024599"], "information_content": 100.0}
{"id": "HP:0031381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased mitogen-induced T-cell proliferation", "equivalent_identifiers": ["HP:0031381", "UMLS:C4531166"], "information_content": 90.9}
{"id": "MONDO:0011790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amish lethal microcephaly", "equivalent_identifiers": ["MONDO:0011790", "OMIM:607196", "orphanet:99742", "UMLS:C1846648", "MESH:C538247", "SNOMEDCT:702437000", "medgen:375938"], "information_content": 100.0}
{"id": "MONDO:0012614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 6", "equivalent_identifiers": ["MONDO:0012614", "DOID:0081182", "OMIM:611092", "UMLS:C1970198", "MESH:C567017", "medgen:370848"], "information_content": 100.0}
{"id": "MONDO:0003233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kinetic tremor", "equivalent_identifiers": ["MONDO:0003233", "DOID:4990", "OMIM.PS:190300", "EFO:0003108", "UMLS:C0270736", "UMLS:C4551521", "MESH:D020329", "MEDDRA:10004262", "MEDDRA:10015496", "MEDDRA:10015497", "NCIT:C182453", "SNOMEDCT:609558009", "medgen:78725", "ICD10:G25.0", "HP:0030186"], "information_content": 85.5}
{"id": "HP:0004305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Involuntary movements", "equivalent_identifiers": ["HP:0004305", "NCIT:C78453", "UMLS:C0235086", "UMLS:C0427086", "MEDDRA:10022895", "MEDDRA:10028041", "SNOMEDCT:102542000", "SNOMEDCT:267078001"], "information_content": 71.5}
{"id": "MONDO:0020795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silver-Russell syndrome 5", "equivalent_identifiers": ["MONDO:0020795", "OMIM:618908", "UMLS:C5394456", "medgen:1713787"], "information_content": 100.0}
{"id": "MONDO:0008365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recombinant 8 syndrome", "equivalent_identifiers": ["MONDO:0008365", "OMIM:179613", "orphanet:96167", "UMLS:C0795822", "MESH:C535296", "SNOMEDCT:718189004", "medgen:167070"], "information_content": 100.0}
{"id": "MONDO:0008214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelger-Huet anomaly", "equivalent_identifiers": ["MONDO:0008214", "DOID:9631", "OMIM:169400", "EFO:1001093", "UMLS:C0030779", "UMLS:C4023351", "MESH:D010381", "NCIT:C85002", "SNOMEDCT:85559002", "medgen:10617", "icd11.foundation:1210390183", "HP:0011447"], "information_content": 100.0}
{"id": "HP:0010047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 5th metacarpal", "equivalent_identifiers": ["HP:0010047", "UMLS:C1861388"], "information_content": 100.0}
{"id": "HP:0002916", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of chromosome segregation", "equivalent_identifiers": ["HP:0002916", "UMLS:C4025670"], "information_content": 63.7}
{"id": "HP:0001902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giant platelets", "equivalent_identifiers": ["HP:0001902", "UMLS:C0333864", "SNOMEDCT:44687006"], "information_content": 95.4}
{"id": "HP:0009824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb undergrowth", "equivalent_identifiers": ["HP:0009824", "UMLS:C1837406"], "information_content": 74.3}
{"id": "HP:0010041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 3rd metacarpal", "equivalent_identifiers": ["HP:0010041", "UMLS:C1850631"], "information_content": 100.0}
{"id": "HP:0001874", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of neutrophils", "equivalent_identifiers": ["HP:0001874", "UMLS:C0427515", "SNOMEDCT:250274006"], "information_content": 73.9}
{"id": "MONDO:0013365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 83", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013365", "DOID:0110528", "OMIM:613685", "UMLS:C3888310", "medgen:854856"], "information_content": 100.0}
{"id": "MONDO:0007422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoderma hereditarium mutilans", "equivalent_identifiers": ["MONDO:0007422", "DOID:0111339", "OMIM:124500", "orphanet:494", "UMLS:C0265964", "MESH:C536457", "SNOMEDCT:24559001", "medgen:78579"], "information_content": 100.0}
{"id": "HP:0007460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autoamputation of digits", "equivalent_identifiers": ["HP:0007460", "UMLS:C1852289"], "information_content": 100.0}
{"id": "MONDO:0007865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "knuckle pads", "equivalent_identifiers": ["MONDO:0007865", "OMIM:149100", "UMLS:C0264000", "MEDDRA:10070650", "NCIT:C3928", "SNOMEDCT:16687001", "medgen:78103", "icd11.foundation:1824875472", "HP:0032541"], "information_content": 100.0}
{"id": "HP:0007465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Honeycomb palmoplantar hyperkeratosis", "equivalent_identifiers": ["HP:0007465", "UMLS:C1866032", "UMLS:C5539406"], "information_content": 100.0}
{"id": "MONDO:0009018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central cloudy dystrophy of François", "equivalent_identifiers": ["MONDO:0009018", "OMIM:217600", "orphanet:98972", "UMLS:C1622427", "MESH:C563262", "SNOMEDCT:419074008", "medgen:302006"], "information_content": 100.0}
{"id": "HP:0007881", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central corneal dystrophy", "equivalent_identifiers": ["HP:0007881", "UMLS:C4024778"], "information_content": 92.8}
{"id": "MONDO:0013460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 12", "equivalent_identifiers": ["MONDO:0013460", "DOID:0110348", "OMIM:613849", "UMLS:C3151433", "medgen:462783"], "information_content": 100.0}
{"id": "HP:0000244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachyturricephaly", "equivalent_identifiers": ["HP:0000244", "UMLS:C1857484"], "information_content": 100.0}
{"id": "HP:0040160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized osteoporosis", "equivalent_identifiers": ["HP:0040160", "UMLS:C3805887", "UMLS:C4551680"], "information_content": 92.8}
{"id": "HP:0005620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermobility of interphalangeal joints", "equivalent_identifiers": ["HP:0005620", "UMLS:C4025172"], "information_content": 95.4}
{"id": "HP:0000591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sclera morphology", "equivalent_identifiers": ["HP:0000591", "UMLS:C4025840"], "information_content": 79.6}
{"id": "MONDO:0008944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 1", "equivalent_identifiers": ["MONDO:0008944", "DOID:0110980", "OMIM:213300", "UMLS:C4551568", "medgen:1644883"], "information_content": 100.0}
{"id": "HP:0010808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protruding tongue", "equivalent_identifiers": ["HP:0010808", "UMLS:C0241442", "MEDDRA:10037076", "SNOMEDCT:249872000", "SNOMEDCT:285503005"], "information_content": 95.4}
{"id": "HP:0011933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elongated superior cerebellar peduncle", "equivalent_identifiers": ["HP:0011933", "UMLS:C3810214", "UMLS:C4021109"], "information_content": 100.0}
{"id": "HP:0000570", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal saccadic eye movements", "equivalent_identifiers": ["HP:0000570", "UMLS:C0234649", "UMLS:C1842584", "UMLS:C4025841", "MEDDRA:10063534", "SNOMEDCT:246767003", "SNOMEDCT:79161002"], "information_content": 80.6}
{"id": "HP:0002195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysgenesis of the cerebellar vermis", "equivalent_identifiers": ["HP:0002195", "UMLS:C4025719"], "information_content": 100.0}
{"id": "HP:0002790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal breathing dysregulation", "equivalent_identifiers": ["HP:0002790", "UMLS:C3806216"], "information_content": 100.0}
{"id": "HP:0007271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Occipital myelomeningocele", "equivalent_identifiers": ["HP:0007271", "UMLS:C4024912"], "information_content": 100.0}
{"id": "HP:0010828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemifacial spasm", "equivalent_identifiers": ["HP:0010828", "UMLS:C0278152", "MEDDRA:10063008", "SNOMEDCT:13753008", "MESH:D019569"], "information_content": 100.0}
{"id": "HP:0000617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of ocular smooth pursuit", "equivalent_identifiers": ["HP:0000617", "UMLS:C1836393"], "information_content": 85.5}
{"id": "HP:0002876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic tachypnea", "equivalent_identifiers": ["HP:0002876", "UMLS:C3806218"], "information_content": 100.0}
{"id": "HP:0100951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged fossa interpeduncularis", "equivalent_identifiers": ["HP:0100951", "UMLS:C4020922"], "information_content": 100.0}
{"id": "HP:0200096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular-shaped open mouth", "equivalent_identifiers": ["HP:0200096", "UMLS:C1859292"], "information_content": 100.0}
{"id": "MONDO:0012762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia 2", "equivalent_identifiers": ["MONDO:0012762", "DOID:0060676", "OMIM:611938", "UMLS:C2677794", "NCIT:C148368", "medgen:393837"], "information_content": 100.0}
{"id": "MONDO:0020575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymorphic ventricular tachycardia", "equivalent_identifiers": ["MONDO:0020575", "UMLS:C0344432", "MEDDRA:10028158", "MEDDRA:10028159", "MEDDRA:10036095", "NCIT:C111648", "SNOMEDCT:251159007", "medgen:138002", "icd11.foundation:16452928", "HP:0031677"], "information_content": 85.5}
{"id": "MONDO:0033363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 54", "equivalent_identifiers": ["MONDO:0033363", "DOID:0080418", "OMIM:617391", "UMLS:C4479319", "medgen:1392637"], "information_content": 100.0}
{"id": "MONDO:0024772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked, syndromic, Pilorge type", "equivalent_identifiers": ["MONDO:0024772", "DOID:0070422", "OMIM:301076", "UMLS:C5676881", "medgen:1803486"], "information_content": 100.0}
{"id": "MONDO:0013913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 11 with or without anosmia", "equivalent_identifiers": ["MONDO:0013913", "DOID:0090071", "OMIM:614840", "UMLS:C3553844", "medgen:766758"], "information_content": 100.0}
{"id": "HP:0030260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microphallus", "equivalent_identifiers": ["HP:0030260", "UMLS:C0240701", "SNOMEDCT:276333003"], "information_content": 100.0}
{"id": "MONDO:0014006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schuurs-Hoeijmakers syndrome", "equivalent_identifiers": ["MONDO:0014006", "DOID:0070047", "OMIM:615009", "orphanet:329224", "UMLS:C3554343", "MEDDRA:10089146", "MEDDRA:10089148", "NCIT:C150555", "SNOMEDCT:773581009", "medgen:767257"], "information_content": 100.0}
{"id": "HP:0001176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large hands", "equivalent_identifiers": ["HP:0001176", "UMLS:C0426870", "SNOMEDCT:249752003"], "information_content": 100.0}
{"id": "MONDO:0004570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Volvulus", "equivalent_identifiers": ["MONDO:0004570", "DOID:8445", "UMLS:C0042961", "MESH:D045822", "MEDDRA:10047697", "MEDDRA:10047698", "NCIT:C98963", "SNOMEDCT:90738007", "SNOMEDCT:9707006", "medgen:21892", "ICD10:K56.2", "ICD9:560.2", "HP:0002580"], "information_content": 100.0}
{"id": "HP:0011098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Speech apraxia", "equivalent_identifiers": ["HP:0011098", "UMLS:C0264611", "UMLS:C0349391", "UMLS:C5676593", "MEDDRA:10071709", "SNOMEDCT:361276003", "SNOMEDCT:361277007", "SNOMEDCT:74227009"], "information_content": 100.0}
{"id": "HP:0001833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long foot", "equivalent_identifiers": ["HP:0001833", "UMLS:C0576225", "SNOMEDCT:299462005"], "information_content": 100.0}
{"id": "MONDO:0014667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3", "equivalent_identifiers": ["MONDO:0014667", "DOID:0080359", "OMIM:616500", "UMLS:C4225154", "medgen:903495"], "information_content": 100.0}
{"id": "HP:0031320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiomyocyte mitochondrial proliferation", "equivalent_identifiers": ["HP:0031320", "UMLS:C4531203"], "information_content": 100.0}
{"id": "MONDO:0011712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van der Woude syndrome 2", "equivalent_identifiers": ["MONDO:0011712", "OMIM:606713", "UMLS:C1847604", "MESH:C536529", "medgen:338272"], "information_content": 100.0}
{"id": "HP:0100267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lip pit", "equivalent_identifiers": ["HP:0100267", "UMLS:C0341059"], "information_content": 86.3}
{"id": "MONDO:0009881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary dwarfism with large sella turcica", "equivalent_identifiers": ["MONDO:0009881", "OMIM:262710", "UMLS:C0271575", "MESH:C562705", "SNOMEDCT:27270004", "medgen:78778"], "information_content": 100.0}
{"id": "MONDO:0006909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary dwarfism", "equivalent_identifiers": ["MONDO:0006909", "EFO:1001109", "UMLS:C0013338", "UMLS:C0392591", "MESH:D004393", "MEDDRA:10035083", "NCIT:C34555", "SNOMEDCT:367460001", "SNOMEDCT:7530009", "medgen:8506", "HP:0000839"], "information_content": 92.8}
{"id": "MONDO:0030895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 22", "equivalent_identifiers": ["MONDO:0030895", "DOID:0112268", "OMIM:619155", "UMLS:C5436909", "medgen:1745920"], "information_content": 100.0}
{"id": "HP:0007430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized edema", "equivalent_identifiers": ["HP:0007430", "UMLS:C1850534", "MEDDRA:10014223", "MEDDRA:10018092", "MEDDRA:10018112", "MEDDRA:10030102", "SNOMEDCT:271808008"], "information_content": 90.9}
{"id": "HP:0012593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nephrotic range proteinuria", "equivalent_identifiers": ["HP:0012593", "NCIT:C123066", "UMLS:C0445118", "SNOMEDCT:264867001"], "information_content": 100.0}
{"id": "HP:0031266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Podocyte foot process effacement", "equivalent_identifiers": ["HP:0031266", "UMLS:C3280103"], "information_content": 100.0}
{"id": "MONDO:0014556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital contractures of the limbs and face, hypotonia, and developmental delay", "equivalent_identifiers": ["MONDO:0014556", "DOID:0081048", "OMIM:616266", "orphanet:562528", "EFO:1001868", "UMLS:C4225398", "SNOMEDCT:1255322002", "medgen:907234"], "information_content": 100.0}
{"id": "HP:0001848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcaneovalgus deformity", "equivalent_identifiers": ["HP:0001848", "UMLS:C1860450", "UMLS:C4732736"], "information_content": 100.0}
{"id": "HP:0011824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chin with H-shaped crease", "equivalent_identifiers": ["HP:0011824", "UMLS:C1860309"], "information_content": 100.0}
{"id": "HP:0009931", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged naris", "equivalent_identifiers": ["HP:0009931", "UMLS:C0426440", "SNOMEDCT:399353008"], "information_content": 100.0}
{"id": "MONDO:0007735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital Horner syndrome", "equivalent_identifiers": ["MONDO:0007735", "OMIM:143000", "orphanet:91413", "UMLS:C1840475", "MESH:C564178", "MEDDRA:10074554", "SNOMEDCT:770626007", "medgen:327111", "HP:0006837"], "information_content": 100.0}
{"id": "MONDO:0007722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterochromia iridis", "equivalent_identifiers": ["MONDO:0007722", "OMIM:142500", "UMLS:C0423318", "MESH:C538115", "MEDDRA:10066799", "SNOMEDCT:247033008", "medgen:98395", "HP:0001100"], "information_content": 92.8}
{"id": "HP:0007451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ipsilateral lack of facial sweating", "equivalent_identifiers": ["HP:0007451", "UMLS:C4024874"], "information_content": 100.0}
{"id": "MONDO:0024548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 1", "equivalent_identifiers": ["MONDO:0024548", "DOID:0070520", "OMIM:270300", "orphanet:263553", "UMLS:C1849193", "UMLS:C5679693", "UMLS:C5768235", "MESH:C564818", "SNOMEDCT:1240462005", "SNOMEDCT:724838009", "medgen:336530"], "information_content": 100.0}
{"id": "HP:0001806", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onycholysis", "equivalent_identifiers": ["HP:0001806", "NCIT:C112212", "UMLS:C0085661", "MEDDRA:10030337", "SNOMEDCT:75789001", "MESH:D054039"], "information_content": 88.2}
{"id": "MONDO:0007754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperhidrosis palmaris ET plantaris", "equivalent_identifiers": ["MONDO:0007754", "OMIM:144110", "UMLS:C1274743", "MESH:C563185", "SNOMEDCT:403375001", "medgen:224808", "HP:0007410"], "information_content": 100.0}
{"id": "MONDO:0013764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 16", "equivalent_identifiers": ["MONDO:0013764", "DOID:0110985", "OMIM:614465", "UMLS:C3280906", "medgen:482536"], "information_content": 100.0}
{"id": "MONDO:0012258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 2E, with migratory circinate erythema", "equivalent_identifiers": ["MONDO:0012258", "OMIM:609352", "orphanet:158681", "UMLS:C1836284", "MESH:C563730", "SNOMEDCT:716700003", "medgen:324475"], "information_content": 100.0}
{"id": "HP:0031180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythema migrans", "equivalent_identifiers": ["HP:0031180", "NCIT:C119047", "UMLS:C0014740", "MEDDRA:10015157", "MEDDRA:10062488", "SNOMEDCT:69588003", "MESH:D015787"], "information_content": 100.0}
{"id": "HP:0033802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intra-epidermal blistering", "equivalent_identifiers": ["HP:0033802", "UMLS:C5539821"], "information_content": 90.9}
{"id": "MONDO:0007474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal ulcer due to antral G-cell hyperfunction", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007474", "OMIM:126840", "UMLS:C1852009", "MESH:C535721", "medgen:338843"], "information_content": 100.0}
{"id": "MONDO:0005412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal ulcer", "equivalent_identifiers": ["MONDO:0005412", "DOID:1724", "EFO:0004607", "UMLS:C0010474", "UMLS:C0013295", "MESH:D004381", "MEDDRA:10011646", "MEDDRA:10013836", "MEDDRA:10045297", "NCIT:C26755", "SNOMEDCT:367474008", "SNOMEDCT:39755000", "SNOMEDCT:51868009", "medgen:41670", "icd11.foundation:553678663", "ICD10:K26", "ICD9:532", "HP:0002588"], "information_content": 95.4}
{"id": "HP:0500167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypergastrinemia", "equivalent_identifiers": ["HP:0500167", "UMLS:C0853890", "MEDDRA:10005545"], "information_content": 95.4}
{"id": "MONDO:0030875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 5", "equivalent_identifiers": ["MONDO:0030875", "OMIM:619141", "UMLS:C5436884", "medgen:1756201"], "information_content": 100.0}
{"id": "MONDO:0017276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia", "equivalent_identifiers": ["MONDO:0017276", "DOID:9255", "orphanet:282", "UMLS:C0338451", "MESH:D057180", "MEDDRA:10068968", "NCIT:C84719", "SNOMEDCT:230270009", "medgen:83266", "icd11.foundation:831337417", "HP:0002145"], "information_content": 76.9}
{"id": "HP:0010546", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Twitching", "equivalent_identifiers": ["HP:0010546", "NCIT:C50785", "UMLS:C0231530", "UMLS:C0231531", "UMLS:C1704276", "MEDDRA:10028305", "MEDDRA:10028346", "MEDDRA:10028347", "MEDDRA:10045197", "MEDDRA:10045198", "MEDDRA:10087555", "SNOMEDCT:249966004", "SNOMEDCT:41405005", "SNOMEDCT:60238002"], "information_content": 89.4}
{"id": "MONDO:0010985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 1", "equivalent_identifiers": ["MONDO:0010985", "DOID:0111690", "OMIM:601068", "UMLS:C1832841", "MESH:C563399", "medgen:371424"], "information_content": 100.0}
{"id": "HP:0001351", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jerk-locked premyoclonus spikes", "equivalent_identifiers": ["HP:0001351", "UMLS:C3552825"], "information_content": 100.0}
{"id": "HP:0001340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enhancement of the C-reflex", "equivalent_identifiers": ["HP:0001340", "UMLS:C3552824"], "information_content": 100.0}
{"id": "HP:0001312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giant somatosensory evoked potentials", "equivalent_identifiers": ["HP:0001312", "UMLS:C3806961"], "information_content": 100.0}
{"id": "HP:0001326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with irregular generalized spike and wave complexes", "equivalent_identifiers": ["HP:0001326", "UMLS:C4025792"], "information_content": 100.0}
{"id": "MONDO:0010134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pendred syndrome", "equivalent_identifiers": ["MONDO:0010134", "DOID:0060744", "OMIM:274600", "orphanet:705", "UMLS:C0271829", "MESH:C536648", "MEDDRA:10080398", "NCIT:C121745", "SNOMEDCT:70348004", "medgen:82890", "icd11.foundation:1156056623", "ICD10:E07.1"], "information_content": 100.0}
{"id": "MONDO:0015075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid gland carcinoma", "equivalent_identifiers": ["MONDO:0015075", "DOID:3963", "orphanet:100088", "EFO:0002892", "UMLS:C0549473", "UMLS:C3163939", "MEDDRA:10007476", "MEDDRA:10043702", "MEDDRA:10043703", "NCIT:C4815", "SNOMEDCT:448216007", "medgen:107811", "HP:0002890"], "information_content": 63.2}
{"id": "HP:0008223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compensated hypothyroidism", "equivalent_identifiers": ["HP:0008223", "NCIT:C121727", "UMLS:C0271790", "UMLS:C0342162", "MEDDRA:10064627", "MEDDRA:10088888", "SNOMEDCT:237523006", "SNOMEDCT:54823002"], "information_content": 100.0}
{"id": "MONDO:0010880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telangiectasia, hereditary hemorrhagic, type 2", "equivalent_identifiers": ["MONDO:0010880", "OMIM:600376", "UMLS:C1832529", "UMLS:C1838163", "MESH:C537139", "MESH:C563358", "medgen:324960"], "information_content": 100.0}
{"id": "HP:0001232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nail bed telangiectasia", "equivalent_identifiers": ["HP:0001232", "UMLS:C1838167"], "information_content": 100.0}
{"id": "HP:0006548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary arteriovenous malformation", "equivalent_identifiers": ["HP:0006548", "UMLS:C1857690", "MEDDRA:10037309", "SNOMEDCT:303070000"], "information_content": 100.0}
{"id": "HP:0001694", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right-to-left shunt", "equivalent_identifiers": ["HP:0001694", "UMLS:C0428871", "SNOMEDCT:79692001"], "information_content": 100.0}
{"id": "HP:0007380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial telangiectasia", "equivalent_identifiers": ["HP:0007380", "UMLS:C0858684", "MEDDRA:10043194"], "information_content": 92.8}
{"id": "HP:0100869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar telangiectasia", "equivalent_identifiers": ["HP:0100869", "UMLS:C4020948"], "information_content": 100.0}
{"id": "HP:0006574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic arteriovenous malformation", "equivalent_identifiers": ["HP:0006574", "NCIT:C35611", "UMLS:C0520557", "MEDDRA:10019633", "SNOMEDCT:84150000"], "information_content": 100.0}
{"id": "MONDO:0005571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycythemia", "equivalent_identifiers": ["MONDO:0005571", "DOID:8432", "orphanet:98427", "EFO:0005804", "UMLS:C0032461", "UMLS:C1527405", "UMLS:C1868945", "MESH:D011086", "MEDDRA:10015276", "MEDDRA:10036051", "MEDDRA:10036055", "MEDDRA:10036058", "MEDDRA:10067083", "NCIT:C113711", "NCIT:C26863", "SNOMEDCT:109992005", "SNOMEDCT:127062003", "medgen:18552", "HP:0001901"], "information_content": 79.9}
{"id": "HP:0000214", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lip telangiectasia", "equivalent_identifiers": ["HP:0000214", "UMLS:C1857697", "UMLS:C4280670", "UMLS:C4280671"], "information_content": 95.4}
{"id": "HP:0000434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal mucosa telangiectasia", "equivalent_identifiers": ["HP:0000434", "UMLS:C4025853", "MEDDRA:10084636"], "information_content": 100.0}
{"id": "MONDO:0005099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subarachnoid hemorrhage", "equivalent_identifiers": ["MONDO:0005099", "EFO:0000713", "UMLS:C0038525", "MESH:D013345", "MEDDRA:10019587", "MEDDRA:10042316", "MEDDRA:10042318", "MEDDRA:10042320", "MEDDRA:10055845", "MEDDRA:10071890", "NCIT:C50757", "SNOMEDCT:21454007", "medgen:11625", "HP:0002138"], "information_content": 95.4}
{"id": "HP:0030049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brain abscess", "equivalent_identifiers": ["HP:0030049", "UMLS:C0006105", "MEDDRA:10006105", "MEDDRA:10006106", "SNOMEDCT:441806004", "MESH:D001922"], "information_content": 100.0}
{"id": "HP:0000471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal angiodysplasia", "equivalent_identifiers": ["HP:0000471", "UMLS:C0854242", "MEDDRA:10017928"], "information_content": 100.0}
{"id": "HP:0002390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal arteriovenous malformation", "equivalent_identifiers": ["HP:0002390", "UMLS:C0348023", "MEDDRA:10062697", "SNOMEDCT:261482004"], "information_content": 100.0}
{"id": "HP:0002629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal arteriovenous malformation", "equivalent_identifiers": ["HP:0002629", "UMLS:C0744321", "MEDDRA:10017932"], "information_content": 88.2}
{"id": "HP:0002707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palate telangiectasia", "equivalent_identifiers": ["HP:0002707", "UMLS:C1857699", "UMLS:C4280267"], "information_content": 95.4}
{"id": "HP:0000228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral cavity telangiectasia", "equivalent_identifiers": ["HP:0000228", "UMLS:C4025877", "UMLS:C4280667"], "information_content": 87.2}
{"id": "MONDO:0007154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriovenous malformations of the brain", "equivalent_identifiers": ["MONDO:0007154", "DOID:0060688", "OMIM:108010", "orphanet:46724", "UMLS:C0007772", "UMLS:C0917804", "UMLS:C2676095", "MESH:D002538", "MEDDRA:10056371", "NCIT:C2936", "SNOMEDCT:234142008", "medgen:214590", "icd11.foundation:153256729", "ICD10:Q28.2", "HP:0002408"], "information_content": 100.0}
{"id": "HP:0000524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjunctival telangiectasia", "equivalent_identifiers": ["HP:0000524", "UMLS:C0239105", "MEDDRA:10072143", "SNOMEDCT:231870008"], "information_content": 95.4}
{"id": "HP:0000227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue telangiectasia", "equivalent_identifiers": ["HP:0000227", "UMLS:C4025878", "UMLS:C4280668"], "information_content": 100.0}
{"id": "HP:0030491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Choriocapillaris atrophy", "equivalent_identifiers": ["HP:0030491", "UMLS:C3275758"], "information_content": 100.0}
{"id": "HP:0002604", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal telangiectasia", "equivalent_identifiers": ["HP:0002604", "UMLS:C1619711", "MEDDRA:10064861"], "information_content": 100.0}
{"id": "HP:0004406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous, recurrent epistaxis", "equivalent_identifiers": ["HP:0004406", "UMLS:C3809715", "SNOMEDCT:2571000112102"], "information_content": 100.0}
{"id": "MONDO:0005264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient ischemic attack", "equivalent_identifiers": ["MONDO:0005264", "DOID:224", "EFO:0003764", "UMLS:C0007787", "UMLS:C0917805", "MESH:D002546", "MEDDRA:10043821", "MEDDRA:10044374", "MEDDRA:10044375", "MEDDRA:10044390", "MEDDRA:10044391", "MEDDRA:10046183", "MEDDRA:10055755", "MEDDRA:10072760", "MEDDRA:10072761", "NCIT:C50781", "SNOMEDCT:266257000", "medgen:853", "ICD10:G45.9", "HP:0002326"], "information_content": 95.4}
{"id": "HP:0006107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fingerpad telangiectases", "equivalent_identifiers": ["HP:0006107", "UMLS:C1861248"], "information_content": 100.0}
{"id": "MONDO:0013678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EDICT syndrome", "equivalent_identifiers": ["MONDO:0013678", "OMIM:614303", "orphanet:293936", "UMLS:C3280392", "SNOMEDCT:722439009", "medgen:482022"], "information_content": 100.0}
{"id": "MONDO:0008641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "equivalent_identifiers": ["MONDO:0008641", "DOID:0111567", "OMIM:192315", "orphanet:247691", "UMLS:C1860518", "MESH:C566007", "SNOMEDCT:720854004", "SNOMEDCT:783787000", "medgen:348124", "icd11.foundation:554838792"], "information_content": 100.0}
{"id": "HP:0031987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished ability to concentrate", "equivalent_identifiers": ["HP:0031987", "UMLS:C0235198", "MEDDRA:10010247", "MEDDRA:10010251", "MEDDRA:10027347", "MEDDRA:10027348", "SNOMEDCT:60032008"], "information_content": 100.0}
{"id": "MONDO:0001576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telangiectasis", "equivalent_identifiers": ["MONDO:0001576", "DOID:1272", "UMLS:C0039446", "UMLS:C1138421", "MESH:D013684", "MEDDRA:10043189", "MEDDRA:10043193", "MEDDRA:10062696", "MEDDRA:10068846", "NCIT:C28194", "SNOMEDCT:112641009", "SNOMEDCT:247479008", "medgen:21088", "HP:0001009"], "information_content": 76.4}
{"id": "HP:0009763", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb pain", "equivalent_identifiers": ["HP:0009763", "NCIT:C187370", "UMLS:C0030196", "MEDDRA:10000448", "MEDDRA:10033425", "MEDDRA:10033447", "MEDDRA:10033471", "SNOMEDCT:90834002"], "information_content": 78.8}
{"id": "HP:0001147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal exudate", "equivalent_identifiers": ["HP:0001147", "UMLS:C0240897", "UMLS:C0271053", "MEDDRA:10011222", "MEDDRA:10038862", "MEDDRA:10038865", "MEDDRA:10041287", "SNOMEDCT:39832008"], "information_content": 88.2}
{"id": "HP:0007009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central nervous system degeneration", "equivalent_identifiers": ["HP:0007009", "UMLS:C3277687"], "information_content": 100.0}
{"id": "MONDO:0003005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular Edema", "equivalent_identifiers": ["MONDO:0003005", "DOID:4449", "UMLS:C0271051", "MESH:D008269", "MEDDRA:10025415", "MEDDRA:10054467", "NCIT:C35468", "SNOMEDCT:37231002", "medgen:75732", "HP:0040049"], "information_content": 92.8}
{"id": "HP:0007017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Forgetfullness", "equivalent_identifiers": ["HP:0007017", "UMLS:C3277688", "UMLS:C4476546"], "information_content": 100.0}
{"id": "HP:0001413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Micronodular cirrhosis", "equivalent_identifiers": ["HP:0001413", "UMLS:C0267812", "MEDDRA:10079256", "SNOMEDCT:21861000"], "information_content": 100.0}
{"id": "HP:0200030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate vasculitis skin lesions", "equivalent_identifiers": ["HP:0200030", "UMLS:C3277693"], "information_content": 100.0}
{"id": "MONDO:0010430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 97", "equivalent_identifiers": ["MONDO:0010430", "DOID:0112046", "OMIM:300803", "UMLS:C2749020", "MESH:C567583", "medgen:440689"], "information_content": 100.0}
{"id": "MONDO:0033308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 30", "equivalent_identifiers": ["MONDO:0033308", "DOID:0080275", "OMIM:617622", "UMLS:C4539937", "medgen:1613861"], "information_content": 100.0}
{"id": "HP:0020185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superior cerebellar dysplasia", "equivalent_identifiers": ["HP:0020185", "UMLS:C5209268"], "information_content": 100.0}
{"id": "MONDO:0008222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Andersen-Tawil syndrome", "equivalent_identifiers": ["MONDO:0008222", "DOID:0050434", "OMIM:170390", "orphanet:37553", "UMLS:C1563715", "MESH:D050030", "MEDDRA:10083859", "MEDDRA:10083896", "NCIT:C84559", "SNOMEDCT:422348008", "medgen:327586"], "information_content": 100.0}
{"id": "HP:0005147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bidirectional ventricular ectopy", "equivalent_identifiers": ["HP:0005147", "UMLS:C1969410"], "information_content": 100.0}
{"id": "HP:0005478", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent frontal sinuses", "equivalent_identifiers": ["HP:0005478", "UMLS:C1969404", "UMLS:C4280265", "UMLS:C4280479", "UMLS:C4280480", "UMLS:C4280481"], "information_content": 100.0}
{"id": "HP:0008153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periodic hypokalemic paresis", "equivalent_identifiers": ["HP:0008153", "UMLS:C4021553"], "information_content": 100.0}
{"id": "HP:0025072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent U wave", "equivalent_identifiers": ["HP:0025072", "UMLS:C1969408"], "information_content": 100.0}
{"id": "HP:0003778", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short mandibular rami", "equivalent_identifiers": ["HP:0003778", "UMLS:C1841648", "UMLS:C4280545"], "information_content": 89.4}
{"id": "HP:0003779", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antegonial notching of mandible", "equivalent_identifiers": ["HP:0003779", "UMLS:C1844509"], "information_content": 100.0}
{"id": "MONDO:0032792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy", "equivalent_identifiers": ["MONDO:0032792", "OMIM:618511", "UMLS:C5193137", "medgen:1680245"], "information_content": 100.0}
{"id": "HP:0034337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Claw hand deformity", "equivalent_identifiers": ["HP:0034337", "UMLS:C5702555"], "information_content": 100.0}
{"id": "HP:0007210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb amyotrophy", "equivalent_identifiers": ["HP:0007210", "UMLS:C4024921"], "information_content": 92.8}
{"id": "HP:0006886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired distal vibration sensation", "equivalent_identifiers": ["HP:0006886", "UMLS:C1853767"], "information_content": 95.4}
{"id": "MONDO:0013267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 16p11.2 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0013267", "DOID:0060398", "OMIM:613444", "orphanet:261222", "UMLS:C3150701", "UMLS:C3150702", "UMLS:C4518824", "SNOMEDCT:733521003", "medgen:462051"], "information_content": 100.0}
{"id": "MONDO:0014020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 55", "equivalent_identifiers": ["MONDO:0014020", "DOID:0110807", "OMIM:615035", "orphanet:320375", "EFO:0009040", "UMLS:C3539506", "SNOMEDCT:723825006", "medgen:761342"], "information_content": 100.0}
{"id": "HP:0011399", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibialis anterior muscle atrophy", "equivalent_identifiers": ["HP:0011399", "UMLS:C4023375"], "information_content": 100.0}
{"id": "HP:0006937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired distal tactile sensation", "equivalent_identifiers": ["HP:0006937", "UMLS:C4021583"], "information_content": 100.0}
{"id": "HP:0011449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knee clonus", "equivalent_identifiers": ["HP:0011449", "UMLS:C0520823", "SNOMEDCT:54360005"], "information_content": 100.0}
{"id": "MONDO:0009386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlexia", "equivalent_identifiers": ["MONDO:0009386", "OMIM:238350", "UMLS:C1855928", "MESH:C565500", "medgen:341011"], "information_content": 100.0}
{"id": "MONDO:0009204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal faciocardiomelic dysplasia", "equivalent_identifiers": ["MONDO:0009204", "OMIM:227270", "orphanet:1972", "UMLS:C1856891", "MESH:C565578", "SNOMEDCT:719400000", "medgen:384007"], "information_content": 100.0}
{"id": "HP:0000171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microglossia", "equivalent_identifiers": ["HP:0000171", "UMLS:C0025988", "UMLS:C0426492", "MEDDRA:10027542", "SNOMEDCT:249380003", "SNOMEDCT:32614006"], "information_content": 92.8}
{"id": "HP:0009486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial deviation of the hand", "equivalent_identifiers": ["HP:0009486", "UMLS:C0575803", "SNOMEDCT:299035006"], "information_content": 92.8}
{"id": "MONDO:0010147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tongue, pigmented fungiform papillae of", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0010147", "OMIM:275250", "UMLS:C1848756", "medgen:336411"], "information_content": 100.0}
{"id": "HP:0000157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the tongue", "equivalent_identifiers": ["HP:0000157", "UMLS:C0878638"], "information_content": 69.0}
{"id": "MONDO:0012682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 35", "equivalent_identifiers": ["MONDO:0012682", "DOID:0111989", "OMIM:611521", "orphanet:331226", "UMLS:C1969086", "MESH:C566928", "SNOMEDCT:1197415001", "medgen:409751"], "information_content": 100.0}
{"id": "HP:0011274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent mycobacterial infections", "equivalent_identifiers": ["HP:0011274", "UMLS:C4023438"], "information_content": 95.4}
{"id": "MONDO:0010215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group F", "equivalent_identifiers": ["MONDO:0010215", "DOID:0110848", "OMIM:278760", "UMLS:C0268140", "MESH:C562592", "NCIT:C3968", "SNOMEDCT:42530008", "medgen:120612"], "information_content": 90.9}
{"id": "HP:0003213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deficient excision of UV-induced pyrimidine dimers in DNA", "equivalent_identifiers": ["HP:0003213", "UMLS:C4025640"], "information_content": 100.0}
{"id": "HP:0003079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Defective DNA repair after ultraviolet radiation damage", "equivalent_identifiers": ["HP:0003079", "UMLS:C1968564"], "information_content": 100.0}
{"id": "MONDO:0005096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0005096", "DOID:1749", "EFO:0000707", "UMLS:C0007137", "UMLS:C0751688", "MESH:D002294", "MEDDRA:10007349", "MEDDRA:10007473", "MEDDRA:10014987", "MEDDRA:10041823", "MEDDRA:10087462", "NCIT:C2929", "SNOMEDCT:1162767002", "SNOMEDCT:1255006006", "SNOMEDCT:28899001", "SNOMEDCT:402815007", "medgen:2874", "HP:0002860"], "information_content": 57.1}
{"id": "MONDO:0008420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seborrheic keratosis", "equivalent_identifiers": ["MONDO:0008420", "DOID:6498", "OMIM:182000", "EFO:0005584", "UMLS:C0022603", "UMLS:C4282032", "MESH:D017492", "MEDDRA:10004152", "MEDDRA:10039791", "MEDDRA:10039796", "MEDDRA:10039797", "MEDDRA:10039991", "MEDDRA:10058231", "MEDDRA:10078641", "MEDDRA:10078644", "NCIT:C9006", "SNOMEDCT:25499005", "SNOMEDCT:394726009", "SNOMEDCT:398838000", "medgen:5957", "ICD9:702.1", "HP:0031287"], "information_content": 87.2}
{"id": "MONDO:0002527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoacanthoma", "equivalent_identifiers": ["MONDO:0002527", "DOID:3149", "UMLS:C0022572", "MESH:D007636", "MEDDRA:10023347", "MEDDRA:10073955", "NCIT:C3146", "SNOMEDCT:254662007", "SNOMEDCT:417264005", "medgen:5954", "icd11.foundation:516478127", "HP:0031525"], "information_content": 90.9}
{"id": "HP:0007587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Numerous pigmented freckles", "equivalent_identifiers": ["HP:0007587", "UMLS:C1968565"], "information_content": 100.0}
{"id": "MONDO:0002602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CNS disorder", "equivalent_identifiers": ["MONDO:0002602", "DOID:331", "EFO:0009386", "UMLS:C0007682", "UMLS:C4021765", "MESH:D002493", "MEDDRA:10007943", "MEDDRA:10007944", "MEDDRA:10013202", "MEDDRA:10029204", "NCIT:C2934", "SNOMEDCT:23853001", "medgen:892343", "ICD10:G96.9", "HP:0002011"], "information_content": 46.5}
{"id": "MONDO:0000736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "freckles", "equivalent_identifiers": ["MONDO:0000736", "DOID:0060304", "OMIM.PS:127500", "orphanet:241", "EFO:0003963", "UMLS:C0016689", "UMLS:C0025209", "UMLS:C1306229", "UMLS:C2930995", "MESH:C535730", "MESH:D008548", "MEDDRA:10014970", "MEDDRA:10017338", "MEDDRA:10027157", "MEDDRA:10064128", "NCIT:C173131", "NCIT:C204908", "SNOMEDCT:239082002", "SNOMEDCT:403536009", "SNOMEDCT:414662006", "SNOMEDCT:48010006", "SNOMEDCT:699225003", "medgen:419691", "HP:0001480"], "information_content": 90.9}
{"id": "MONDO:0002531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin neoplasm", "equivalent_identifiers": ["MONDO:0002531", "DOID:3165", "EFO:0004198", "UMLS:C0037286", "MESH:D012878", "MEDDRA:10029098", "MEDDRA:10040897", "MEDDRA:10040940", "MEDDRA:10040941", "MEDDRA:10058215", "NCIT:C3372", "SNOMEDCT:126488004", "medgen:19993", "HP:0008069"], "information_content": 55.2}
{"id": "HP:0200034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papule", "equivalent_identifiers": ["HP:0200034", "UMLS:C0332563", "MEDDRA:10033733", "SNOMEDCT:25694009", "SNOMEDCT:443871003"], "information_content": 84.2}
{"id": "MONDO:0008352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pupillary membrane, persistence of", "equivalent_identifiers": ["MONDO:0008352", "OMIM:178900", "UMLS:C0271130", "MESH:C562700", "medgen:124386"], "information_content": 100.0}
{"id": "HP:0009917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent pupillary membrane", "equivalent_identifiers": ["HP:0009917", "NCIT:C161555", "UMLS:C0344541", "MEDDRA:10070872", "SNOMEDCT:95500008"], "information_content": 100.0}
{"id": "MONDO:0012106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 5, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0012106", "DOID:0070280", "OMIM:608716", "UMLS:C1837501", "MESH:C563871", "medgen:373344"], "information_content": 100.0}
{"id": "HP:0002472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small cerebral cortex", "equivalent_identifiers": ["HP:0002472", "UMLS:C1837503"], "information_content": 84.2}
{"id": "MONDO:0032790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities", "equivalent_identifiers": ["MONDO:0032790", "DOID:0081443", "OMIM:618505", "UMLS:C5193134", "medgen:1682403"], "information_content": 100.0}
{"id": "MONDO:0030733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 70", "equivalent_identifiers": ["MONDO:0030733", "DOID:0070569", "OMIM:619828", "UMLS:C5676962", "medgen:1809945"], "information_content": 100.0}
{"id": "MONDO:0859296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss", "equivalent_identifiers": ["MONDO:0859296", "DOID:0081324", "OMIM:620071", "UMLS:C5774229", "medgen:1824002"], "information_content": 100.0}
{"id": "HP:0011623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscular ventricular septal defect", "equivalent_identifiers": ["HP:0011623", "NCIT:C124563", "UMLS:C0685707", "MEDDRA:10071223", "SNOMEDCT:94706008"], "information_content": 92.8}
{"id": "HP:0006844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent patellar reflexes", "equivalent_identifiers": ["HP:0006844", "UMLS:C0558844", "SNOMEDCT:274817009"], "information_content": 100.0}
{"id": "MONDO:0010383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fragile X syndrome", "equivalent_identifiers": ["MONDO:0010383", "DOID:14261", "OMIM:300624", "orphanet:908", "UMLS:C0016667", "MESH:D005600", "MEDDRA:10017324", "NCIT:C84717", "SNOMEDCT:613003", "medgen:8912", "icd11.foundation:1524287677", "ICD10:Q99.2", "ICD9:759.83"], "information_content": 89.4}
{"id": "HP:0002003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large forehead", "equivalent_identifiers": ["HP:0002003", "UMLS:C1839783", "UMLS:C4280583", "UMLS:C4280584"], "information_content": 89.4}
{"id": "HP:0007165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periventricular heterotopia", "equivalent_identifiers": ["HP:0007165", "UMLS:C1849173", "UMLS:C5399973"], "information_content": 90.9}
{"id": "HP:0006099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpophalangeal joint hyperextensibility", "equivalent_identifiers": ["HP:0006099", "UMLS:C4025092"], "information_content": 100.0}
{"id": "HP:0002457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal head movements", "equivalent_identifiers": ["HP:0002457", "UMLS:C0476217", "SNOMEDCT:271799000"], "information_content": 92.8}
{"id": "HP:0003564", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Folate-dependent fragile site at Xq28", "equivalent_identifiers": ["HP:0003564", "UMLS:C1839785"], "information_content": 100.0}
{"id": "HP:0002050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macroorchidism, postpubertal", "equivalent_identifiers": ["HP:0002050", "UMLS:C1839782"], "information_content": 100.0}
{"id": "HP:0008640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital macroorchidism", "equivalent_identifiers": ["HP:0008640", "UMLS:C4024650"], "information_content": 100.0}
{"id": "MONDO:0024520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypodysplasia/aplasia 3", "equivalent_identifiers": ["MONDO:0024520", "OMIM:617805", "EFO:0009137", "UMLS:C4540497", "medgen:1626497"], "information_content": 100.0}
{"id": "MONDO:0008635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine anomalies", "equivalent_identifiers": ["MONDO:0008635", "OMIM:192000", "UMLS:C0266383", "MESH:C562565", "MEDDRA:10010664", "MEDDRA:10010665", "MEDDRA:10061079", "SNOMEDCT:37849005", "medgen:78598", "HP:0000130"], "information_content": 67.5}
{"id": "MONDO:0009573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megaepiphyseal dwarfism", "equivalent_identifiers": ["MONDO:0009573", "OMIM:249230", "UMLS:C1855310", "MESH:C536140", "medgen:383654"], "information_content": 100.0}
{"id": "HP:0008494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inferior lens subluxation", "equivalent_identifiers": ["HP:0008494", "UMLS:C2036842"], "information_content": 100.0}
{"id": "MONDO:0007437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentin dysplasia type II", "equivalent_identifiers": ["MONDO:0007437", "OMIM:125420", "orphanet:99791", "UMLS:C0399380", "SNOMEDCT:109494000", "medgen:315928"], "information_content": 100.0}
{"id": "HP:0033790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thistle tube shaped pulp", "equivalent_identifiers": ["HP:0033790", "UMLS:C5539812"], "information_content": 100.0}
{"id": "MONDO:0015613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentin dysplasia", "equivalent_identifiers": ["MONDO:0015613", "DOID:701", "orphanet:1653", "UMLS:C0011430", "UMLS:C4023558", "MESH:D003805", "SNOMEDCT:109492001", "medgen:8310", "icd11.foundation:1262020657", "HP:0011060"], "information_content": 90.9}
{"id": "MONDO:0014428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 102", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014428", "DOID:0110463", "OMIM:615974", "UMLS:C3892050", "medgen:856149"], "information_content": 100.0}
{"id": "HP:0012715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Profound hearing impairment", "equivalent_identifiers": ["HP:0012715", "UMLS:C4022756"], "information_content": 95.4}
{"id": "MONDO:0008250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated growth hormone deficiency type II", "equivalent_identifiers": ["MONDO:0008250", "DOID:0060872", "OMIM:173100", "orphanet:231679", "UMLS:C0271567", "MESH:C562704", "SNOMEDCT:237687003", "medgen:124405"], "information_content": 100.0}
{"id": "MONDO:0030967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, congenital, and adult-onset progressive leukoencephalopathy", "equivalent_identifiers": ["MONDO:0030967", "OMIM:619196", "UMLS:C5543087", "medgen:1784506"], "information_content": 100.0}
{"id": "HP:0011476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Profound sensorineural hearing impairment", "equivalent_identifiers": ["HP:0011476", "UMLS:C4023338"], "information_content": 100.0}
{"id": "HP:0007103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypointensity of cerebral white matter on MRI", "equivalent_identifiers": ["HP:0007103", "UMLS:C4020908"], "information_content": 88.2}
{"id": "MONDO:0017790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric adenocarcinoma and proximal polyposis of the stomach", "equivalent_identifiers": ["MONDO:0017790", "OMIM:619182", "orphanet:314022", "UMLS:C4749917", "NCIT:C172989", "SNOMEDCT:771474005", "medgen:1657285"], "information_content": 100.0}
{"id": "MONDO:0005036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric adenocarcinoma", "equivalent_identifiers": ["MONDO:0005036", "DOID:3717", "EFO:0000503", "UMLS:C0278701", "MEDDRA:10001150", "NCIT:C4004", "SNOMEDCT:408647009", "medgen:82961", "HP:0033770"], "information_content": 75.8}
{"id": "MONDO:0008284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyposis of gastric fundus without polyposis coli", "equivalent_identifiers": ["MONDO:0008284", "UMLS:C1868001", "MESH:C566775", "medgen:357403", "HP:0033769"], "information_content": 100.0}
{"id": "MONDO:0958205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yuksel-Vogel-Bauer syndrome", "equivalent_identifiers": ["MONDO:0958205", "OMIM:620703", "UMLS:C5882751", "medgen:1847314"], "information_content": 100.0}
{"id": "MONDO:0001896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obstructive hydrocephalus", "equivalent_identifiers": ["MONDO:0001896", "DOID:14159", "UMLS:C0270717", "UMLS:C0549423", "MEDDRA:10020516", "MEDDRA:10029981", "MEDDRA:10076690", "NCIT:C116347", "SNOMEDCT:230746009", "SNOMEDCT:82346000", "medgen:108198", "ICD10:G91.1", "ICD9:331.4", "HP:0010953"], "information_content": 100.0}
{"id": "HP:0033132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal cortical hyperechogenicity", "equivalent_identifiers": ["HP:0033132", "UMLS:C5421632"], "information_content": 100.0}
{"id": "MONDO:0002045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "communicating hydrocephalus", "equivalent_identifiers": ["MONDO:0002045", "DOID:1573", "UMLS:C0009451", "MEDDRA:10010116", "MEDDRA:10020514", "NCIT:C34501", "SNOMEDCT:271569006", "medgen:1058", "icd11.foundation:186577228", "ICD10:G91.0", "ICD9:331.3", "HP:0001334"], "information_content": 95.4}
{"id": "MONDO:0014419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome", "equivalent_identifiers": ["MONDO:0014419", "OMIM:615960", "orphanet:370022", "UMLS:C4014821", "SNOMEDCT:763344007", "medgen:863258"], "information_content": 100.0}
{"id": "HP:0030329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal thinning", "equivalent_identifiers": ["HP:0030329", "UMLS:C3549703", "MEDDRA:10083268"], "information_content": 95.4}
{"id": "MONDO:0015129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Addison Disease", "equivalent_identifiers": ["MONDO:0015129", "DOID:13774", "OMIM:240200", "orphanet:101959", "UMLS:C0001403", "UMLS:C1868690", "UMLS:C5848257", "MESH:D000075262", "MESH:D000224", "MEDDRA:10001130", "MEDDRA:10013096", "MEDDRA:10036696", "MEDDRA:10052381", "MEDDRA:10085976", "NCIT:C26689", "SNOMEDCT:363732003", "SNOMEDCT:373662000", "medgen:1324", "ICD10:E27.1", "HP:0008207"], "information_content": 78.0}
{"id": "HP:0001000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of skin pigmentation", "equivalent_identifiers": ["HP:0001000", "NCIT:C34930", "UMLS:C1260926", "MEDDRA:10000164", "MEDDRA:10000165", "MEDDRA:10035019"], "information_content": 63.5}
{"id": "MONDO:0000004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenocortical insufficiency", "equivalent_identifiers": ["MONDO:0000004", "DOID:10493", "EFO:0009491", "UMLS:C0001623", "UMLS:C0405580", "MESH:D000309", "MEDDRA:10001334", "MEDDRA:10001335", "MEDDRA:10001342", "MEDDRA:10001343", "MEDDRA:10001344", "MEDDRA:10001366", "MEDDRA:10001367", "MEDDRA:10001369", "MEDDRA:10011172", "MEDDRA:10020936", "MEDDRA:10020979", "MEDDRA:10022460", "MEDDRA:10022461", "MEDDRA:10056485", "MEDDRA:10082130", "NCIT:C26691", "SNOMEDCT:111563005", "SNOMEDCT:237785004", "SNOMEDCT:386584007", "medgen:589758", "icd11.foundation:733056203", "ICD9:255.4", "HP:0000846"], "information_content": 77.6}
{"id": "MONDO:0004995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiovascular disorder", "equivalent_identifiers": ["MONDO:0004995", "DOID:1287", "EFO:0000319", "UMLS:C0007222", "UMLS:C0243050", "UMLS:C0728936", "MESH:D002318", "MESH:D018376", "MEDDRA:10007648", "MEDDRA:10007649", "MEDDRA:10007650", "MEDDRA:10013205", "MEDDRA:10045663", "NCIT:C2931", "SNOMEDCT:49601007", "medgen:2848", "ICD9:429.2", "HP:0001626"], "information_content": 46.3}
{"id": "MONDO:0008848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heart Block", "equivalent_identifiers": ["MONDO:0008848", "OMIM:209600", "UMLS:C0004331", "MESH:D006327", "MEDDRA:10000034", "MEDDRA:10003853", "MEDDRA:10013458", "MEDDRA:10069571", "NCIT:C71045", "SNOMEDCT:50799005", "medgen:2496", "icd11.foundation:268503599", "HP:0011709"], "information_content": 85.5}
{"id": "HP:0004752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital atrioventricular dissociation", "equivalent_identifiers": ["HP:0004752", "UMLS:C4025299"], "information_content": 100.0}
{"id": "MONDO:0859292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, behavioral abnormalities, and neuropsychiatric disorders", "equivalent_identifiers": ["MONDO:0859292", "OMIM:620065", "UMLS:C5774224", "medgen:1823997"], "information_content": 100.0}
{"id": "MONDO:0012157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 4C", "equivalent_identifiers": ["MONDO:0012157", "DOID:0110679", "OMIM:608931", "UMLS:C1837091", "MESH:C536090", "NCIT:C174216", "medgen:373251"], "information_content": 100.0}
{"id": "HP:0003473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myasthenias", "equivalent_identifiers": ["HP:0003473", "UMLS:C0947912", "MEDDRA:10028415"], "information_content": 74.6}
{"id": "HP:0003199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased muscle mass", "equivalent_identifiers": ["HP:0003199", "UMLS:C1837108"], "information_content": 87.2}
{"id": "HP:0003388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tires quickly", "equivalent_identifiers": ["HP:0003388", "UMLS:C0424585", "UMLS:C1837098", "SNOMEDCT:248268002"], "information_content": 100.0}
{"id": "HP:0003443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased size of nerve terminals", "equivalent_identifiers": ["HP:0003443", "UMLS:C4025615"], "information_content": 100.0}
{"id": "MONDO:0030727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 101", "equivalent_identifiers": ["MONDO:0030727", "DOID:0070387", "OMIM:619814", "UMLS:C5676955", "medgen:1805172"], "information_content": 100.0}
{"id": "HP:0003121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb joint contracture", "equivalent_identifiers": ["HP:0003121", "UMLS:C1969879"], "information_content": 69.7}
{"id": "MONDO:0000468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "third-degree atrioventricular block", "equivalent_identifiers": ["MONDO:0000468", "DOID:0050823", "UMLS:C0151517", "MEDDRA:10003673", "MEDDRA:10003678", "MEDDRA:10003848", "MEDDRA:10003852", "MEDDRA:10010141", "MEDDRA:10019256", "MEDDRA:10019260", "MEDDRA:10019262", "MEDDRA:10019271", "MEDDRA:10043440", "MEDDRA:10065659", "NCIT:C50501", "SNOMEDCT:27885002", "medgen:56230", "HP:0001709"], "information_content": 92.8}
{"id": "MONDO:0027694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 23", "equivalent_identifiers": ["MONDO:0027694", "DOID:0080225", "OMIM:617839", "UMLS:C4693381", "NCIT:C178411", "medgen:1645924"], "information_content": 100.0}
{"id": "HP:0002398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Degeneration of anterior horn cells", "equivalent_identifiers": ["HP:0002398", "UMLS:C1843505"], "information_content": 95.4}
{"id": "MONDO:0014576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoyl transferase 1 deficiency", "equivalent_identifiers": ["MONDO:0014576", "OMIM:616299", "orphanet:401862", "UMLS:C4225379", "medgen:904073"], "information_content": 100.0}
{"id": "HP:0003573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased total bilirubin", "equivalent_identifiers": ["HP:0003573", "UMLS:C0741494", "MEDDRA:10004697", "MEDDRA:10056806", "SNOMEDCT:176271000119108"], "information_content": 100.0}
{"id": "HP:0025376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperglutaminuria", "equivalent_identifiers": ["HP:0025376", "UMLS:C4476741"], "information_content": 95.4}
{"id": "HP:0020078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alaninuria", "equivalent_identifiers": ["HP:0020078", "UMLS:C5139067"], "information_content": 100.0}
{"id": "MONDO:0014961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 16", "equivalent_identifiers": ["MONDO:0014961", "DOID:0070184", "OMIM:617187", "UMLS:C4310674", "medgen:934641"], "information_content": 100.0}
{"id": "HP:0012869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acephalic spermatozoa", "equivalent_identifiers": ["HP:0012869", "UMLS:C4022698"], "information_content": 100.0}
{"id": "MONDO:0014413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome type 14", "equivalent_identifiers": ["MONDO:0014413", "DOID:0060958", "OMIM:615948", "orphanet:434179", "UMLS:C4706604", "SNOMEDCT:763837007", "medgen:1635470"], "information_content": 100.0}
{"id": "MONDO:0002708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis", "equivalent_identifiers": ["MONDO:0002708", "DOID:3612", "UMLS:C0035333", "MESH:D012173", "MEDDRA:10038910", "MEDDRA:10038913", "NCIT:C115993", "SNOMEDCT:399463004", "medgen:19765", "HP:0032118"], "information_content": 87.2}
{"id": "MONDO:0022790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft tongue", "equivalent_identifiers": ["MONDO:0022790", "UMLS:C0266111", "UMLS:C4255098", "SNOMEDCT:84557007", "medgen:82731", "HP:0010297"], "information_content": 95.4}
{"id": "HP:0000039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epispadias", "equivalent_identifiers": ["HP:0000039", "UMLS:C0563449", "SNOMEDCT:406477003"], "information_content": 100.0}
{"id": "MONDO:0019979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypoplasia, unilateral", "equivalent_identifiers": ["MONDO:0019979", "orphanet:97361", "UMLS:C0431691", "SNOMEDCT:204948009", "medgen:609098", "HP:0012583"], "information_content": 100.0}
{"id": "HP:0008753", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the epiglottis", "equivalent_identifiers": ["HP:0008753", "UMLS:C4024628"], "information_content": 95.4}
{"id": "MONDO:0008828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jacobs syndrome", "equivalent_identifiers": ["MONDO:0008828", "DOID:0090127", "OMIM:208250", "orphanet:2848", "EFO:0009028", "UMLS:C1859690", "MESH:C537560", "MEDDRA:10083494", "SNOMEDCT:771187008", "medgen:349226"], "information_content": 100.0}
{"id": "MONDO:0006711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "constrictive pericarditis", "equivalent_identifiers": ["MONDO:0006711", "DOID:11481", "EFO:1000878", "UMLS:C0031048", "UMLS:C0031876", "MESH:D010494", "MEDDRA:10010783", "MEDDRA:10034487", "NCIT:C78246", "SNOMEDCT:85598007", "medgen:18378", "icd11.foundation:1722995229", "ICD9:423.2", "HP:0002563"], "information_content": 100.0}
{"id": "HP:0011909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened metacarpal heads", "equivalent_identifiers": ["HP:0011909", "UMLS:C4023134"], "information_content": 100.0}
{"id": "HP:0005186", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synovial lining hyperplasia", "equivalent_identifiers": ["HP:0005186", "UMLS:C0410574", "SNOMEDCT:240206002"], "information_content": 100.0}
{"id": "HP:0005197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized morning stiffness", "equivalent_identifiers": ["HP:0005197", "UMLS:C4025238"], "information_content": 100.0}
{"id": "HP:0005194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened metatarsal heads", "equivalent_identifiers": ["HP:0005194", "UMLS:C4025240"], "information_content": 100.0}
{"id": "HP:0005879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital finger flexion contractures", "equivalent_identifiers": ["HP:0005879", "UMLS:C1393871"], "information_content": 100.0}
{"id": "MONDO:0011568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 25", "equivalent_identifiers": ["MONDO:0011568", "DOID:0110555", "OMIM:605583", "UMLS:C1854158", "MESH:C565319", "medgen:344221"], "information_content": 100.0}
{"id": "MONDO:0044646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome", "equivalent_identifiers": ["MONDO:0044646", "DOID:0070423", "OMIM:617193", "orphanet:496641", "UMLS:C5567454", "NCIT:C202602", "SNOMEDCT:1172593006", "medgen:1798877"], "information_content": 100.0}
{"id": "HP:0012646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retractile testis", "equivalent_identifiers": ["HP:0012646", "NCIT:C123258", "UMLS:C0520578", "MEDDRA:10038951", "MEDDRA:10043348", "SNOMEDCT:21779006"], "information_content": 100.0}
{"id": "HP:0002607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowel incontinence", "equivalent_identifiers": ["HP:0002607", "EFO:0009523", "NCIT:C78498", "UMLS:C0015732", "MEDDRA:10016092", "MEDDRA:10016296", "MEDDRA:10016310", "MEDDRA:10021640", "MEDDRA:10021641", "MEDDRA:10021646", "MEDDRA:10050492", "MEDDRA:10056118", "MEDDRA:10074039", "MEDDRA:10077605", "SNOMEDCT:72042002", "MESH:D005242"], "information_content": 92.8}
{"id": "HP:0007179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent smooth pursuit", "equivalent_identifiers": ["HP:0007179", "UMLS:C4024928"], "information_content": 100.0}
{"id": "MONDO:0007861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated cloverleaf skull syndrome", "equivalent_identifiers": ["MONDO:0007861", "OMIM:148800", "UMLS:C0432126", "UMLS:C1860050", "UMLS:C4280564", "MESH:C536884", "SNOMEDCT:254022009", "medgen:98141", "HP:0002676"], "information_content": 100.0}
{"id": "HP:0000495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent corneal erosions", "equivalent_identifiers": ["HP:0000495", "UMLS:C0155119", "UMLS:C4020888", "MEDDRA:10038128", "SNOMEDCT:2055003"], "information_content": 100.0}
{"id": "MONDO:0044871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia, focal, task-specific", "equivalent_identifiers": ["MONDO:0044871", "OMIM:611284", "UMLS:C1969807", "UMLS:C2749929", "MESH:C566973", "MEDDRA:10072250", "SNOMEDCT:230330004", "medgen:370752"], "information_content": 100.0}
{"id": "MONDO:0009779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omodysplasia 1", "equivalent_identifiers": ["MONDO:0009779", "DOID:0080844", "OMIM:258315", "orphanet:93329", "UMLS:C1850318", "UMLS:C2936816", "MESH:C537557", "MESH:C537746", "SNOMEDCT:725166005", "medgen:340513", "icd11.foundation:350802889"], "information_content": 100.0}
{"id": "HP:0012107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fibular diameter", "equivalent_identifiers": ["HP:0012107", "UMLS:C4021100"], "information_content": 100.0}
{"id": "HP:0005050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterolateral radial head dislocation", "equivalent_identifiers": ["HP:0005050", "UMLS:C1968610"], "information_content": 100.0}
{"id": "HP:0006376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited elbow flexion", "equivalent_identifiers": ["HP:0006376", "UMLS:C1856922"], "information_content": 92.8}
{"id": "HP:0005025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic distal humeri", "equivalent_identifiers": ["HP:0005025", "UMLS:C1968607"], "information_content": 100.0}
{"id": "HP:0003066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited knee extension", "equivalent_identifiers": ["HP:0003066", "UMLS:C1844690"], "information_content": 100.0}
{"id": "HP:0005085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited knee flexion/extension", "equivalent_identifiers": ["HP:0005085", "UMLS:C1968606"], "information_content": 100.0}
{"id": "HP:0005060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited elbow flexion/extension", "equivalent_identifiers": ["HP:0005060", "UMLS:C1968605"], "information_content": 100.0}
{"id": "HP:0006389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited knee flexion", "equivalent_identifiers": ["HP:0006389", "UMLS:C1839512"], "information_content": 100.0}
{"id": "HP:0009756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Popliteal pterygium", "equivalent_identifiers": ["HP:0009756", "UMLS:C3805420"], "information_content": 100.0}
{"id": "MONDO:0013062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 12", "equivalent_identifiers": ["MONDO:0013062", "DOID:0110653", "OMIM:612955", "UMLS:C2751830", "MESH:C567842", "NCIT:C192202", "medgen:442824"], "information_content": 100.0}
{"id": "OMIM:613493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antibody Deficiency due to Defect in CD19", "equivalent_identifiers": ["OMIM:613493", "UMLS:C3150738", "MESH:C566275"]}
{"id": "HP:0030388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased class-switched memory B cell proportion", "equivalent_identifiers": ["HP:0030388", "UMLS:C4072925"], "information_content": 100.0}
{"id": "MONDO:0015131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency", "equivalent_identifiers": ["MONDO:0015131", "DOID:0111962", "DOID:628", "orphanet:101972", "UMLS:C0494261", "UMLS:C2711630", "MEDDRA:10010098", "MEDDRA:10010099", "MEDDRA:10010100", "NCIT:C27871", "SNOMEDCT:442459007", "medgen:751396", "icd11.foundation:1616506198", "ICD10:D81", "ICD9:279.2", "HP:0005387"], "information_content": 70.2}
{"id": "HP:0011839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal T cell count", "equivalent_identifiers": ["HP:0011839", "UMLS:C4021113"], "information_content": 63.6}
{"id": "HP:0032134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic decreased circulating total IgG", "equivalent_identifiers": ["HP:0032134", "UMLS:C5139153"], "information_content": 100.0}
{"id": "HP:0032139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced isohemagglutinin level", "equivalent_identifiers": ["HP:0032139", "UMLS:C5139157"], "information_content": 100.0}
{"id": "HP:0010975", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal B cell count", "equivalent_identifiers": ["HP:0010975", "UMLS:C4021208"], "information_content": 69.4}
{"id": "MONDO:0011219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fried's tooth and nail syndrome", "equivalent_identifiers": ["MONDO:0011219", "DOID:0111661", "OMIM:602401", "orphanet:99672", "UMLS:C0406715", "UMLS:C3551424", "SNOMEDCT:239020008", "medgen:764338"], "information_content": 100.0}
{"id": "HP:0100840", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the eyebrow", "equivalent_identifiers": ["HP:0100840", "UMLS:C1848765", "UMLS:C2266639", "UMLS:C3551430", "UMLS:C4021956"], "information_content": 88.2}
{"id": "HP:0200102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse or absent eyelashes", "equivalent_identifiers": ["HP:0200102", "UMLS:C1835157", "UMLS:C1862855", "UMLS:C3551431"], "information_content": 85.5}
{"id": "HP:0006349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tooth absent", "equivalent_identifiers": ["HP:0006349", "UMLS:C0457756", "UMLS:C1290511", "MEDDRA:10044048", "SNOMEDCT:109444001", "SNOMEDCT:234948008", "MESH:C563203"], "information_content": 100.0}
{"id": "MONDO:0032763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 62", "equivalent_identifiers": ["MONDO:0032763", "DOID:0111991", "OMIM:618459", "UMLS:C5193109", "medgen:1673905"], "information_content": 100.0}
{"id": "HP:0005353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent herpes", "equivalent_identifiers": ["HP:0005353", "UMLS:C4025207"], "information_content": 90.9}
{"id": "HP:0410295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete or near-complete absence of specific antibody response to tetanus vaccine", "equivalent_identifiers": ["HP:0410295", "UMLS:C5139458"], "information_content": 100.0}
{"id": "MONDO:0002211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B cell deficiency", "equivalent_identifiers": ["MONDO:0002211", "DOID:2115", "UMLS:C0154276", "UMLS:C0522274", "UMLS:C1855067", "MEDDRA:10012134", "MEDDRA:10020464", "NCIT:C4799", "SNOMEDCT:103075007", "medgen:340780", "ICD9:279.03", "HP:0010976"], "information_content": 71.0}
{"id": "HP:0030381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased transitional B cell proportion", "equivalent_identifiers": ["HP:0030381", "UMLS:C4072920"], "information_content": 100.0}
{"id": "MONDO:0010919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "varicella, severe recurrent", "equivalent_identifiers": ["MONDO:0010919", "OMIM:600670", "UMLS:C1833487", "MESH:C563458", "medgen:322202", "HP:0005428"], "information_content": 100.0}
{"id": "MONDO:0030680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2F", "equivalent_identifiers": ["MONDO:0030680", "DOID:0081162", "OMIM:619747", "UMLS:C5676917", "medgen:1802616"], "information_content": 100.0}
{"id": "HP:0033534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating brain natriuretic peptide concentration", "equivalent_identifiers": ["HP:0033534", "UMLS:C5539662", "MEDDRA:10089989"], "information_content": 100.0}
{"id": "MONDO:0012830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 10q23 deletion syndrome", "equivalent_identifiers": ["MONDO:0012830", "DOID:0050787", "DOID:0060389", "OMIM:174900", "OMIM:612242", "orphanet:276413", "UMLS:C0345893", "UMLS:C1832940", "UMLS:C1868081", "UMLS:C2677102", "UMLS:C4225669", "MESH:C537702", "MESH:C567385", "MEDDRA:10089326", "NCIT:C7754", "SNOMEDCT:9273005", "medgen:906099"], "information_content": 87.2}
{"id": "MONDO:0006186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duodenal Cancer", "equivalent_identifiers": ["MONDO:0006186", "DOID:10816", "EFO:1000223", "UMLS:C0278804", "UMLS:C0541912", "MEDDRA:10007340", "MEDDRA:10013815", "MEDDRA:10013818", "MEDDRA:10013821", "MEDDRA:10013824", "NCIT:C7889", "SNOMEDCT:408644002", "medgen:82985", "HP:0006771"], "information_content": 88.2}
{"id": "MONDO:0021085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric neoplasm", "equivalent_identifiers": ["MONDO:0021085", "EFO:0003897", "UMLS:C0038356", "UMLS:C4020813", "MESH:D013274", "MEDDRA:10051828", "MEDDRA:10061968", "NCIT:C3387", "SNOMEDCT:126824007", "medgen:20958", "HP:0006753"], "information_content": 63.5}
{"id": "MONDO:0009262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM1 gangliosidosis type 3", "equivalent_identifiers": ["MONDO:0009262", "DOID:0080489", "OMIM:230650", "orphanet:79257", "UMLS:C0268273", "SNOMEDCT:238027003", "medgen:78655", "icd11.foundation:1331496842"], "information_content": 100.0}
{"id": "HP:0010729", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cherry red spot of the macula", "equivalent_identifiers": ["HP:0010729", "UMLS:C2216370", "MEDDRA:10085831"], "information_content": 100.0}
{"id": "HP:0003274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic acetabulae", "equivalent_identifiers": ["HP:0003274", "UMLS:C1846442"], "information_content": 100.0}
{"id": "HP:0008430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior beaking of lumbar vertebrae", "equivalent_identifiers": ["HP:0008430", "UMLS:C4021541"], "information_content": 95.4}
{"id": "MONDO:0018149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM1 gangliosidosis", "equivalent_identifiers": ["MONDO:0018149", "DOID:3322", "orphanet:354", "UMLS:C0085131", "UMLS:C1854788", "UMLS:C1856559", "UMLS:C2718068", "MESH:D016537", "MEDDRA:10083308", "NCIT:C84739", "SNOMEDCT:124465002", "SNOMEDCT:238025006", "medgen:43107", "icd11.foundation:401105928", "ICD10:E75.19", "HP:0008166"], "information_content": 90.9}
{"id": "MONDO:0012809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytoma, Angiomatoid fibrous", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0012809", "OMIM:612160", "orphanet:569164", "UMLS:C1266127", "MESH:C563181", "NCIT:C6494", "SNOMEDCT:128744003", "SNOMEDCT:1293020005", "medgen:226845"], "information_content": 84.8}
{"id": "MONDO:0005509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytoma", "equivalent_identifiers": ["MONDO:0005509", "DOID:4231", "EFO:0005561", "UMLS:C1509147", "MESH:D051642", "MEDDRA:10020115", "NCIT:C35765", "SNOMEDCT:128741006", "SNOMEDCT:302843004", "medgen:267592", "icd11.foundation:1211753554", "HP:0012315"], "information_content": 83.1}
{"id": "MONDO:0014867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 43", "equivalent_identifiers": ["MONDO:0014867", "DOID:0111745", "OMIM:617018", "orphanet:497764", "EFO:0009060", "UMLS:C4310763", "SNOMEDCT:1208516002", "medgen:934730"], "information_content": 100.0}
{"id": "HP:0030902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmomental reflex", "equivalent_identifiers": ["HP:0030902", "UMLS:C0751470", "MEDDRA:10051852", "SNOMEDCT:246572005"], "information_content": 100.0}
{"id": "MONDO:0010843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyslexia, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0010843", "OMIM:600202", "UMLS:C1838436", "medgen:325025"], "information_content": 100.0}
{"id": "MONDO:0001697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyslexia", "equivalent_identifiers": ["MONDO:0001697", "DOID:13365", "UMLS:C0154631", "UMLS:C0476254", "UMLS:C0920296", "MEDDRA:10012564", "MEDDRA:10012569", "MEDDRA:10012570", "MEDDRA:10013932", "SNOMEDCT:192138007", "SNOMEDCT:52824009", "SNOMEDCT:59770006", "ICD9:315.09", "HP:0010522"], "information_content": 83.1}
{"id": "MONDO:0014649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 50", "equivalent_identifiers": ["MONDO:0014649", "DOID:0081213", "OMIM:616460", "UMLS:C4225319", "medgen:906893"], "information_content": 100.0}
{"id": "MONDO:0033015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis et progressiva 5", "equivalent_identifiers": ["MONDO:0033015", "DOID:0080251", "OMIM:617756", "UMLS:C4540331", "medgen:1626376"], "information_content": 100.0}
{"id": "MONDO:0010505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-balding-patella luxation-acromicria syndrome", "equivalent_identifiers": ["MONDO:0010505", "OMIM:300977", "orphanet:3041", "UMLS:C1866985", "MESH:C536638", "SNOMEDCT:722002002", "medgen:401129"], "information_content": 100.0}
{"id": "HP:0031878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acromicria", "equivalent_identifiers": ["HP:0031878", "UMLS:C1386091"], "information_content": 100.0}
{"id": "HP:0003758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced subcutaneous adipose tissue", "equivalent_identifiers": ["HP:0003758", "UMLS:C0424631", "UMLS:C1857657", "SNOMEDCT:248316006"], "information_content": 90.9}
{"id": "MONDO:0009276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bernard-Soulier syndrome", "equivalent_identifiers": ["MONDO:0009276", "DOID:2217", "OMIM:231200", "orphanet:274", "UMLS:C0005129", "UMLS:C1856447", "UMLS:C1856448", "UMLS:C2713537", "UMLS:C3278148", "MESH:C565549", "MESH:C565550", "MESH:D001606", "MEDDRA:10057473", "NCIT:C84595", "SNOMEDCT:234478007", "SNOMEDCT:54569005", "medgen:2212", "icd11.foundation:507309898"], "information_content": 95.4}
{"id": "HP:0011871", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired ristocetin-induced platelet aggregation", "equivalent_identifiers": ["HP:0011871", "UMLS:C4023154"], "information_content": 100.0}
{"id": "MONDO:0002610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "purpura", "equivalent_identifiers": ["MONDO:0002610", "DOID:3326", "UMLS:C0034150", "UMLS:C4732730", "MESH:D011693", "MEDDRA:10034228", "MEDDRA:10037549", "MEDDRA:10037559", "NCIT:C78787", "SNOMEDCT:12393003", "SNOMEDCT:387778001", "SNOMEDCT:423902002", "medgen:19584", "ICD10:D69.2", "HP:0000979"], "information_content": 85.5}
{"id": "HP:0004846", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged bleeding after surgery", "equivalent_identifiers": ["HP:0004846", "UMLS:C4021646"], "information_content": 100.0}
{"id": "MONDO:0013297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1H", "equivalent_identifiers": ["MONDO:0013297", "DOID:0110303", "OMIM:613530", "UMLS:C3150786", "SNOMEDCT:771334000", "medgen:462136"], "information_content": 100.0}
{"id": "HP:0003724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder girdle muscle atrophy", "equivalent_identifiers": ["HP:0003724", "UMLS:C1847766"], "information_content": 100.0}
{"id": "MONDO:0008591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor-nystagmus-duodenal ulcer syndrome", "equivalent_identifiers": ["MONDO:0008591", "OMIM:190310", "orphanet:3350", "UMLS:C1860860", "MESH:C536406", "SNOMEDCT:782935003", "medgen:349908"], "information_content": 100.0}
{"id": "MONDO:0009340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-spherocytic hemolytic anemia due to hexokinase deficiency", "equivalent_identifiers": ["MONDO:0009340", "DOID:0051006", "OMIM:235700", "orphanet:90031", "UMLS:C3150343", "UMLS:C3502059", "MESH:C562995", "medgen:461693"], "information_content": 100.0}
{"id": "MONDO:0002155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholecystitis", "equivalent_identifiers": ["MONDO:0002155", "DOID:1949", "UMLS:C0008325", "UMLS:C0085694", "MESH:D002764", "MEDDRA:10008612", "MEDDRA:10008617", "MEDDRA:10008618", "MEDDRA:10008619", "MEDDRA:10008847", "MEDDRA:10017633", "MEDDRA:10021955", "MEDDRA:10072027", "NCIT:C34465", "NCIT:C35146", "SNOMEDCT:20824003", "SNOMEDCT:76581006", "medgen:920", "icd11.foundation:786251500", "ICD10:K81", "ICD9:575.10", "HP:0001082"], "information_content": 85.5}
{"id": "HP:6000559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte hexokinase activity", "equivalent_identifiers": ["HP:6000559", "UMLS:C5937321"], "information_content": 100.0}
{"id": "MONDO:0004139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "normocytic anemia", "equivalent_identifiers": ["MONDO:0004139", "DOID:720", "UMLS:C0085577", "MEDDRA:10002070", "MEDDRA:10002302", "MEDDRA:10029784", "MEDDRA:10029785", "NCIT:C35142", "SNOMEDCT:300980002", "medgen:39310", "HP:0001897"], "information_content": 70.0}
{"id": "MONDO:0000105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia, nonspherocytic hemolytic", "equivalent_identifiers": ["MONDO:0000105", "UMLS:C4025735", "medgen:871250", "HP:0001930"], "information_content": 90.9}
{"id": "MONDO:0014877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, distal, 5", "equivalent_identifiers": ["MONDO:0014877", "OMIM:617030", "orphanet:482601", "UMLS:C5567521", "SNOMEDCT:1172694007", "medgen:1798944"], "information_content": 100.0}
{"id": "HP:0003555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber splitting", "equivalent_identifiers": ["HP:0003555", "UMLS:C1836057"], "information_content": 100.0}
{"id": "MONDO:0033564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 8", "equivalent_identifiers": ["MONDO:0033564", "OMIM:619009", "UMLS:C5436597", "medgen:1776094"], "information_content": 100.0}
{"id": "HP:0025132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating estrogen level", "equivalent_identifiers": ["HP:0025132", "UMLS:C4476605"], "information_content": 84.2}
{"id": "HP:0033336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zygotic cleavage failure", "equivalent_identifiers": ["HP:0033336", "UMLS:C5436598"], "information_content": 100.0}
{"id": "MONDO:0971002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 94", "equivalent_identifiers": ["MONDO:0971002", "DOID:0070593", "OMIM:620850", "UMLS:C5935627", "medgen:1855064"], "information_content": 100.0}
{"id": "HP:0034309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiflagellar spermatozoa", "equivalent_identifiers": ["HP:0034309", "UMLS:C1968692"], "information_content": 100.0}
{"id": "MONDO:0007127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse idiopathic skeletal hyperostosis", "equivalent_identifiers": ["MONDO:0007127", "DOID:6652", "OMIM:106400", "orphanet:2206", "EFO:0007236", "UMLS:C0020498", "MESH:D004057", "MEDDRA:10002558", "MEDDRA:10054031", "MEDDRA:10054040", "MEDDRA:10054080", "MEDDRA:10080059", "NCIT:C84671", "SNOMEDCT:31487001", "medgen:5695", "ICD10:M48.1", "ICD9:721.6"], "information_content": 100.0}
{"id": "HP:0007508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate palmar hyperkeratosis", "equivalent_identifiers": ["HP:0007508", "UMLS:C4024857"], "information_content": 100.0}
{"id": "HP:0008442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral hyperostosis", "equivalent_identifiers": ["HP:0008442", "UMLS:C1834057"], "information_content": 100.0}
{"id": "MONDO:0011969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG8-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011969", "DOID:0080560", "OMIM:608104", "orphanet:79325", "UMLS:C2931002", "MESH:C535746", "SNOMEDCT:720977000", "medgen:419692"], "information_content": 100.0}
{"id": "MONDO:0009174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "protein-losing enteropathy", "equivalent_identifiers": ["MONDO:0009174", "DOID:10611", "OMIM:226300", "orphanet:566175", "UMLS:C0033680", "UMLS:C4538570", "MESH:D011504", "MEDDRA:10085728", "SNOMEDCT:1279887007", "SNOMEDCT:22542007", "SNOMEDCT:66972006", "medgen:19522", "icd11.foundation:1821383469", "HP:0002243"], "information_content": 100.0}
{"id": "MONDO:0012897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor XI deficiency", "equivalent_identifiers": ["MONDO:0012897", "DOID:2229", "OMIM:612416", "orphanet:329", "UMLS:C0015523", "UMLS:C4317093", "MEDDRA:10010469", "MEDDRA:10016082", "MEDDRA:10018940", "MEDDRA:10060615", "NCIT:C84705", "SNOMEDCT:49762007", "medgen:8770", "icd11.foundation:413739466", "ICD10:D68.1", "ICD9:286.2", "HP:0001929"], "information_content": 92.8}
{"id": "HP:0011682", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perimembranous ventricular septal defect", "equivalent_identifiers": ["HP:0011682", "NCIT:C124556", "UMLS:C0344925", "SNOMEDCT:109428005"], "information_content": 100.0}
{"id": "MONDO:0014872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1H", "equivalent_identifiers": ["MONDO:0014872", "DOID:0110866", "OMIM:617024", "UMLS:C4310758", "medgen:934725"], "information_content": 100.0}
{"id": "MONDO:0958203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 74", "equivalent_identifiers": ["MONDO:0958203", "DOID:0061047", "OMIM:620688", "UMLS:C5882749", "medgen:1845603"], "information_content": 100.0}
{"id": "MONDO:0032673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 7, autosomal recessive", "equivalent_identifiers": ["MONDO:0032673", "OMIM:618317", "UMLS:C5193025", "medgen:1683911"], "information_content": 100.0}
{"id": "HP:0002461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar dentate nucleus calcification", "equivalent_identifiers": ["HP:0002461", "UMLS:C1859273"], "information_content": 100.0}
{"id": "HP:0025041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thalamic calcification", "equivalent_identifiers": ["HP:0025041", "UMLS:C4476561"], "information_content": 100.0}
{"id": "HP:0002135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basal ganglia calcification", "equivalent_identifiers": ["HP:0002135", "UMLS:C1389280", "MEDDRA:10087201", "SNOMEDCT:16818591000119108"], "information_content": 84.2}
{"id": "MONDO:0009207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor", "equivalent_identifiers": ["MONDO:0009207", "OMIM:227310", "UMLS:C1856882", "medgen:346462"], "information_content": 100.0}
{"id": "MONDO:0010602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemophilia A", "equivalent_identifiers": ["MONDO:0010602", "DOID:12134", "OMIM:134500", "OMIM:306700", "orphanet:98878", "UMLS:C0019069", "UMLS:C3494187", "UMLS:C4025649", "MESH:D006467", "MEDDRA:10010468", "MEDDRA:10016080", "MEDDRA:10018937", "MEDDRA:10018938", "MEDDRA:10060612", "MEDDRA:10060613", "NCIT:C27146", "SNOMEDCT:234440005", "SNOMEDCT:28293008", "medgen:5501", "icd11.foundation:337607970", "ICD10:D66", "ICD9:286.0", "HP:0003125"], "information_content": 84.8}
{"id": "MONDO:0020586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor V deficiency", "equivalent_identifiers": ["MONDO:0020586", "UMLS:C4317320", "MESH:D005166", "MEDDRA:10048930", "NCIT:C131738", "SNOMEDCT:4320005", "medgen:1369551", "HP:0003225"], "information_content": 90.9}
{"id": "MONDO:0014287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 11 with or without polydactyly", "equivalent_identifiers": ["MONDO:0014287", "DOID:0110095", "OMIM:615633", "UMLS:C3810200", "medgen:816530"], "information_content": 100.0}
{"id": "MONDO:0014061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Steel syndrome", "equivalent_identifiers": ["MONDO:0014061", "OMIM:615155", "orphanet:438117", "UMLS:C3554594", "SNOMEDCT:1197589000", "medgen:767508"], "information_content": 100.0}
{"id": "MONDO:0008515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly type 4", "equivalent_identifiers": ["MONDO:0008515", "DOID:0111818", "OMIM:186200", "orphanet:93405", "UMLS:C1861355", "MESH:C566092", "SNOMEDCT:719158007", "medgen:350013", "icd11.foundation:75755208"], "information_content": 100.0}
{"id": "HP:0010708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-5 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0010708", "UMLS:C4023728"], "information_content": 100.0}
{"id": "HP:0006088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-5 finger complete cutaneous syndactyly", "equivalent_identifiers": ["HP:0006088", "UMLS:C1861357"], "information_content": 100.0}
{"id": "HP:0005917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supernumerary metacarpal bones", "equivalent_identifiers": ["HP:0005917", "UMLS:C0545617", "SNOMEDCT:91846008"], "information_content": 90.9}
{"id": "HP:0002450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal motor neuron morphology", "equivalent_identifiers": ["HP:0002450", "UMLS:C4025707"], "information_content": 73.3}
{"id": "HP:0003382", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertrophic nerve changes", "equivalent_identifiers": ["HP:0003382", "UMLS:C1832776"], "information_content": 100.0}
{"id": "MONDO:0010074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachyolmia type 1, toledo type", "equivalent_identifiers": ["MONDO:0010074", "OMIM:271630", "UMLS:C1849048", "MESH:C535787", "MEDDRA:10081836", "medgen:376504", "icd11.foundation:637954533"], "information_content": 100.0}
{"id": "HP:0003301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular vertebral endplates", "equivalent_identifiers": ["HP:0003301", "UMLS:C1842153"], "information_content": 92.8}
{"id": "HP:0008418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Squared-off platyspondyly", "equivalent_identifiers": ["HP:0008418", "UMLS:C1849051"], "information_content": 100.0}
{"id": "HP:0006607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Precocious costochondral ossification", "equivalent_identifiers": ["HP:0006607", "UMLS:C1849049"], "information_content": 100.0}
{"id": "HP:0012066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary disaccharide excretion", "equivalent_identifiers": ["HP:0012066", "UMLS:C4023062"], "information_content": 100.0}
{"id": "HP:0002945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intervertebral space narrowing", "equivalent_identifiers": ["HP:0002945", "UMLS:C0263870", "MEDDRA:10055041", "SNOMEDCT:11301007"], "information_content": 95.4}
{"id": "HP:0006413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad tibial metaphyses", "equivalent_identifiers": ["HP:0006413", "UMLS:C2678328"], "information_content": 100.0}
{"id": "HP:0008922", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Childhood-onset short-trunk short stature", "equivalent_identifiers": ["HP:0008922", "UMLS:C3148833"], "information_content": 100.0}
{"id": "MONDO:0007050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromegaloid changes, cutis verticis gyrata, and corneal leukoma", "equivalent_identifiers": ["MONDO:0007050", "OMIM:102100", "UMLS:C1321495", "MESH:C535654", "SNOMEDCT:403766000", "medgen:231158"], "information_content": 100.0}
{"id": "HP:0030314", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periostosis", "equivalent_identifiers": ["HP:0030314", "UMLS:C1409412", "MEDDRA:10077565"], "information_content": 92.8}
{"id": "MONDO:0019033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scalp folds", "equivalent_identifiers": ["MONDO:0019033", "orphanet:671", "UMLS:C0263417", "UMLS:C4072877", "UMLS:C4280378", "MEDDRA:10080996", "SNOMEDCT:51603000", "medgen:78095", "icd11.foundation:71926572", "HP:0010541"], "information_content": 90.9}
{"id": "MONDO:0010499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ritscher-Schinzel syndrome 2", "equivalent_identifiers": ["MONDO:0010499", "DOID:0060572", "OMIM:300963", "UMLS:C4225419", "medgen:897005"], "information_content": 100.0}
{"id": "MONDO:0012309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parietal foramina 2", "equivalent_identifiers": ["MONDO:0012309", "OMIM:609597", "UMLS:C1865044", "MESH:C566510", "medgen:355358"], "information_content": 100.0}
{"id": "MONDO:0018023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin M disease", "equivalent_identifiers": ["MONDO:0018023", "OMIM:617971", "orphanet:330041", "UMLS:C1840779", "UMLS:C3665425", "MESH:C564192", "MESH:C581942", "SNOMEDCT:74912001", "medgen:777099"], "information_content": 100.0}
{"id": "MONDO:0010514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to moesin deficiency", "equivalent_identifiers": ["MONDO:0010514", "DOID:0112001", "OMIM:300988", "orphanet:504530", "UMLS:C5568123", "SNOMEDCT:1179285006", "medgen:1799546"], "information_content": 100.0}
{"id": "MONDO:0030747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 2B, severe", "equivalent_identifiers": ["MONDO:0030747", "OMIM:619784", "UMLS:C5676937", "medgen:1805467"], "information_content": 100.0}
{"id": "MONDO:0010418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 34", "equivalent_identifiers": ["MONDO:0010418", "DOID:0110785", "OMIM:300750", "orphanet:171607", "UMLS:C2677897", "MESH:C567465", "SNOMEDCT:763370008", "medgen:437069"], "information_content": 100.0}
{"id": "MONDO:0003757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraplegia", "equivalent_identifiers": ["MONDO:0003757", "DOID:607", "EFO:0009679", "UMLS:C0030486", "MESH:D010264", "MEDDRA:10024131", "MEDDRA:10033814", "MEDDRA:10033892", "MEDDRA:10050045", "NCIT:C50687", "SNOMEDCT:60389000", "medgen:45323", "icd11.foundation:1212533558", "ICD10:G82.2", "ICD9:344.1", "HP:0010550"], "information_content": 67.9}
{"id": "MONDO:0958006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Guo-Campeau type", "equivalent_identifiers": ["MONDO:0958006", "OMIM:620663", "UMLS:C5882737", "medgen:1844202"], "information_content": 100.0}
{"id": "HP:0040024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 3rd finger", "equivalent_identifiers": ["HP:0040024", "UMLS:C4022485", "UMLS:C4280296"], "information_content": 100.0}
{"id": "HP:0008846", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe intrauterine growth retardation", "equivalent_identifiers": ["HP:0008846", "UMLS:C1855843"], "information_content": 100.0}
{"id": "HP:0005019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diaphyseal undertubulation", "equivalent_identifiers": ["HP:0005019", "UMLS:C1835473"], "information_content": 100.0}
{"id": "MONDO:0008180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital velopharyngeal incompetence", "equivalent_identifiers": ["MONDO:0008180", "OMIM:167500", "orphanet:2291", "UMLS:C0042454", "UMLS:C0454634", "UMLS:C4280669", "MESH:D014681", "MEDDRA:10066790", "SNOMEDCT:229726002", "SNOMEDCT:229727006", "SNOMEDCT:232416001", "SNOMEDCT:278714002", "medgen:52992", "icd11.foundation:158386351", "HP:0000220"], "information_content": 100.0}
{"id": "HP:0010669", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small cheekbone", "equivalent_identifiers": ["HP:0010669", "UMLS:C4021242", "UMLS:C4072879", "UMLS:C4280368", "UMLS:C4280369", "UMLS:C4280370"], "information_content": 92.8}
{"id": "HP:0003184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased hip abduction", "equivalent_identifiers": ["HP:0003184", "UMLS:C1836589"], "information_content": 100.0}
{"id": "MONDO:0007198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ascher syndrome", "equivalent_identifiers": ["MONDO:0007198", "OMIM:109900", "orphanet:1253", "UMLS:C0339085", "MESH:C562742", "SNOMEDCT:28599006", "medgen:137910", "icd11.foundation:1063203220"], "information_content": 100.0}
{"id": "HP:0040295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of the upper lip", "equivalent_identifiers": ["HP:0040295", "UMLS:C4477035"], "information_content": 100.0}
{"id": "MONDO:0012593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain-lung-thyroid syndrome", "equivalent_identifiers": ["MONDO:0012593", "OMIM:610978", "orphanet:209905", "UMLS:C1970269", "MESH:C567034", "NCIT:C202546", "SNOMEDCT:719098007", "medgen:369694", "icd11.foundation:809856670"], "information_content": 100.0}
{"id": "HP:0030830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crackles", "equivalent_identifiers": ["HP:0030830", "NCIT:C119216", "UMLS:C0034642", "MEDDRA:10011283", "MEDDRA:10011376", "MEDDRA:10037832", "MEDDRA:10037833", "MEDDRA:10049154", "MEDDRA:10050052", "MEDDRA:10054910", "SNOMEDCT:48409008"], "information_content": 89.4}
{"id": "HP:0030874", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oxygen desaturation on exertion", "equivalent_identifiers": ["HP:0030874", "UMLS:C4280731"], "information_content": 100.0}
{"id": "HP:0032976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated bronchoalveolar lavage fluid lymphocyte proportion", "equivalent_identifiers": ["HP:0032976", "UMLS:C5397968"], "information_content": 100.0}
{"id": "HP:0032977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated bronchoalveolar lavage fluid neutrophil proportion", "equivalent_identifiers": ["HP:0032977", "UMLS:C5397969"], "information_content": 100.0}
{"id": "HP:0008213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gonadotropin deficiency", "equivalent_identifiers": ["HP:0008213", "UMLS:C4552011", "MEDDRA:10018516", "MEDDRA:10078570"], "information_content": 100.0}
{"id": "HP:0025394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystic pattern on pulmonary HRCT", "equivalent_identifiers": ["HP:0025394", "UMLS:C4476752"], "information_content": 100.0}
{"id": "HP:0012418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoxemia", "equivalent_identifiers": ["HP:0012418", "EFO:0009444", "EFO:0009447", "NCIT:C3890", "NCIT:C93047", "UMLS:C0242184", "UMLS:C0700292", "MEDDRA:10021141", "MEDDRA:10021142", "MEDDRA:10021143", "MEDDRA:10021144", "MEDDRA:10087611", "MP:0005039", "MP:0012549", "SNOMEDCT:389086002", "SNOMEDCT:389087006", "MESH:D000860"], "information_content": 85.5}
{"id": "HP:0032177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parenchymal consolidation", "equivalent_identifiers": ["HP:0032177", "UMLS:C5139174"], "information_content": 100.0}
{"id": "MONDO:0006530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholesteatoma", "equivalent_identifiers": ["MONDO:0006530", "DOID:869", "EFO:1000675", "UMLS:C0008373", "MESH:D002781", "MEDDRA:10008642", "MEDDRA:10008648", "NCIT:C2944", "SNOMEDCT:363668000", "SNOMEDCT:575006", "medgen:3043", "ICD10:H71.9", "ICD9:385.30", "HP:0009797"], "information_content": 89.4}
{"id": "MONDO:0008063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasal alar collapse, bilateral", "equivalent_identifiers": ["MONDO:0008063", "OMIM:161470", "UMLS:C1834371", "MESH:C563533", "medgen:331728"], "information_content": 100.0}
{"id": "MONDO:0011500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Becker nevus syndrome", "equivalent_identifiers": ["MONDO:0011500", "OMIM:604919", "orphanet:64755", "UMLS:C1858042", "UMLS:C5848751", "MESH:C565735", "SNOMEDCT:1332335009", "medgen:347608"], "information_content": 95.4}
{"id": "MONDO:0007303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical rib", "equivalent_identifiers": ["MONDO:0007303", "DOID:3102", "OMIM:117900", "EFO:1000861", "UMLS:C0007856", "UMLS:C0158779", "MESH:D002573", "MESH:D057070", "MEDDRA:10008299", "MEDDRA:10008301", "NCIT:C158329", "SNOMEDCT:1285171005", "SNOMEDCT:413577001", "SNOMEDCT:72535009", "medgen:102359", "HP:0000891"], "information_content": 100.0}
{"id": "HP:0012813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral breast hypoplasia", "equivalent_identifiers": ["HP:0012813", "UMLS:C1844722"], "information_content": 100.0}
{"id": "MONDO:0007444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermal Ridges, patternless", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007444", "OMIM:125540", "UMLS:C1852160", "MESH:C565109", "medgen:343736"], "information_content": 100.0}
{"id": "MONDO:0012308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome with renal defect", "equivalent_identifiers": ["MONDO:0012308", "DOID:0110999", "OMIM:609583", "orphanet:220497", "UMLS:C1846790", "UMLS:C4274117", "MESH:C536296", "NCIT:C74997", "SNOMEDCT:716999001", "medgen:335526", "icd11.foundation:1419767028"], "information_content": 95.4}
{"id": "HP:0100957", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal medulla morphology", "equivalent_identifiers": ["HP:0100957", "UMLS:C4021911"], "information_content": 80.2}
{"id": "HP:0002404", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened superior cerebellar peduncle", "equivalent_identifiers": ["HP:0002404", "UMLS:C4021756"], "information_content": 100.0}
{"id": "MONDO:0054731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 27", "equivalent_identifiers": ["MONDO:0054731", "DOID:0111928", "OMIM:617965", "UMLS:C4693784", "medgen:1634748"], "information_content": 100.0}
{"id": "MONDO:0030712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngodistal myopathy 4", "equivalent_identifiers": ["MONDO:0030712", "DOID:0081300", "OMIM:619790", "UMLS:C5676941", "medgen:1809981"], "information_content": 100.0}
{"id": "HP:0003736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autophagic vacuoles", "equivalent_identifiers": ["HP:0003736", "UMLS:C0544966"], "information_content": 100.0}
{"id": "MONDO:0859311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, demyelinating, type 1J", "equivalent_identifiers": ["MONDO:0859311", "OMIM:620111", "UMLS:C5774249", "medgen:1824022"], "information_content": 100.0}
{"id": "HP:0003393", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thenar muscle atrophy", "equivalent_identifiers": ["HP:0003393", "UMLS:C1864715"], "information_content": 100.0}
{"id": "MONDO:0014072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D,L-2-hydroxyglutaric aciduria", "equivalent_identifiers": ["MONDO:0014072", "DOID:0111619", "OMIM:615182", "orphanet:356978", "UMLS:C5574940", "SNOMEDCT:713401006", "medgen:1802316"], "information_content": 100.0}
{"id": "HP:6000246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF D-2-hydroxyglutaric acid concentration", "equivalent_identifiers": ["HP:6000246", "UMLS:C5937069"], "information_content": 100.0}
{"id": "HP:6000509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF L-2-hydroxyglutaric acid concentration", "equivalent_identifiers": ["HP:6000509", "UMLS:C5937611"], "information_content": 100.0}
{"id": "MONDO:0009370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "L-2-hydroxyglutaric aciduria", "equivalent_identifiers": ["MONDO:0009370", "DOID:0050574", "OMIM:236792", "orphanet:79314", "UMLS:C1855995", "SNOMEDCT:237961001", "medgen:341029", "icd11.foundation:562958433", "HP:0040144"], "information_content": 100.0}
{"id": "HP:0033092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urine succinate level", "equivalent_identifiers": ["HP:0033092", "UMLS:C5421603"], "information_content": 100.0}
{"id": "MONDO:0024309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory and autonomic, type 2A", "equivalent_identifiers": ["MONDO:0024309", "DOID:0070155", "OMIM:201300", "UMLS:C2752089", "SNOMEDCT:860809000", "medgen:416701"], "information_content": 100.0}
{"id": "HP:0001069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic hyperhidrosis", "equivalent_identifiers": ["HP:0001069", "UMLS:C1857171"], "information_content": 100.0}
{"id": "HP:0002661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Painless fractures due to injury", "equivalent_identifiers": ["HP:0002661", "UMLS:C1837602"], "information_content": 100.0}
{"id": "MONDO:0007056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acroosteolysis", "equivalent_identifiers": ["MONDO:0007056", "OMIM:102400", "UMLS:C0917990", "MESH:D030981", "MEDDRA:10000603", "NCIT:C35545", "SNOMEDCT:27201004", "medgen:183017", "HP:0009771"], "information_content": 79.3}
{"id": "HP:0008000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased corneal reflex", "equivalent_identifiers": ["HP:0008000", "UMLS:C0151572", "MEDDRA:10011042", "SNOMEDCT:103254005"], "information_content": 100.0}
{"id": "HP:0006121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acral ulceration", "equivalent_identifiers": ["HP:0006121", "UMLS:C1860099", "UMLS:C4732740"], "information_content": 100.0}
{"id": "HP:0001842", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot acroosteolysis", "equivalent_identifiers": ["HP:0001842", "UMLS:C4025744"], "information_content": 95.4}
{"id": "MONDO:0011733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parasomnia, sleep bruxism type", "equivalent_identifiers": ["MONDO:0011733", "OMIM:606840", "UMLS:C1847399", "UMLS:C3149124", "MESH:C536389", "medgen:339751"], "information_content": 100.0}
{"id": "MONDO:0859323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 56", "equivalent_identifiers": ["MONDO:0859323", "DOID:0070429", "OMIM:620139", "UMLS:C5774261", "medgen:1824034"], "information_content": 100.0}
{"id": "MONDO:0009564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marden-Walker syndrome", "equivalent_identifiers": ["MONDO:0009564", "OMIM:248700", "orphanet:2461", "UMLS:C0796033", "MESH:C535910", "MEDDRA:10090841", "SNOMEDCT:449824004", "medgen:163206", "icd11.foundation:1983460876"], "information_content": 100.0}
{"id": "HP:0005329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fixed facial expression", "equivalent_identifiers": ["HP:0005329", "UMLS:C1855353"], "information_content": 100.0}
{"id": "MONDO:0017985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital radioulnar synostosis", "equivalent_identifiers": ["MONDO:0017985", "DOID:9827", "orphanet:3269", "UMLS:C0158761", "MESH:C562408", "MEDDRA:10037798", "SNOMEDCT:33313004", "medgen:57861", "icd11.foundation:1098526181", "ICD9:755.53", "HP:0002974"], "information_content": 89.4}
{"id": "HP:0002476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primitive reflex", "equivalent_identifiers": ["HP:0002476", "UMLS:C1838319"], "information_content": 87.2}
{"id": "MONDO:0019610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zollinger-Ellison syndrome", "equivalent_identifiers": ["MONDO:0019610", "DOID:0050782", "orphanet:913", "EFO:0007549", "UMLS:C0043515", "MESH:D015043", "MEDDRA:10042855", "MEDDRA:10048253", "MEDDRA:10048281", "NCIT:C3453", "SNOMEDCT:53132006", "medgen:53129", "icd11.foundation:375645550", "ICD10:E16.4", "HP:0002044"], "information_content": 90.9}
{"id": "HP:0007068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inferior cerebellar vermis hypoplasia", "equivalent_identifiers": ["HP:0007068", "UMLS:C1855350"], "information_content": 100.0}
{"id": "MONDO:0011217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "desmosterolosis", "equivalent_identifiers": ["MONDO:0011217", "OMIM:602398", "orphanet:35107", "UMLS:C1865596", "MESH:C566555", "SNOMEDCT:709490002", "medgen:400801", "icd11.foundation:2108931494"], "information_content": 100.0}
{"id": "HP:0034937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating desmosterol concentration", "equivalent_identifiers": ["HP:0034937", "UMLS:C5826783"], "information_content": 100.0}
{"id": "HP:0003107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating cholesterol concentration", "equivalent_identifiers": ["HP:0003107", "UMLS:C4025656"], "information_content": 71.3}
{"id": "HP:0000061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ambiguous genitalia, female", "equivalent_identifiers": ["HP:0000061", "UMLS:C1859980", "UMLS:C4025891"], "information_content": 100.0}
{"id": "HP:0009085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alveolar ridge overgrowth", "equivalent_identifiers": ["HP:0009085", "UMLS:C1856164", "UMLS:C1865598"], "information_content": 95.4}
{"id": "HP:0005789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized osteosclerosis", "equivalent_identifiers": ["HP:0005789", "UMLS:C1843331", "UMLS:C4280476"], "information_content": 100.0}
{"id": "HP:0000033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ambiguous genitalia, male", "equivalent_identifiers": ["HP:0000033", "UMLS:C4021823"], "information_content": 100.0}
{"id": "HP:0005281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic nasal bridge", "equivalent_identifiers": ["HP:0005281", "UMLS:C1865597", "UMLS:C4280494"], "information_content": 100.0}
{"id": "MONDO:0011503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortisone reductase deficiency 1", "equivalent_identifiers": ["MONDO:0011503", "DOID:0090141", "OMIM:604931", "UMLS:C3551716", "UMLS:C4330259", "NCIT:C131849", "medgen:764630"], "information_content": 100.0}
{"id": "MONDO:0010166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulnar agenesis and endocardial fibroelastosis", "equivalent_identifiers": ["MONDO:0010166", "OMIM:276822", "UMLS:C1848649", "MESH:C564756", "medgen:336387"], "information_content": 100.0}
{"id": "MONDO:0007243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Burkitt lymphoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0007243", "DOID:8584", "OMIM:113970", "orphanet:543", "EFO:0000309", "UMLS:C0006413", "UMLS:C0079770", "UMLS:C1368771", "MESH:D002051", "MEDDRA:10006595", "MEDDRA:10006596", "MEDDRA:10006597", "MEDDRA:10006604", "MEDDRA:10006605", "MEDDRA:10006627", "MEDDRA:10053518", "MEDDRA:10073809", "NCIT:C2912", "NCIT:C6917", "SNOMEDCT:118617000", "SNOMEDCT:22197008", "SNOMEDCT:397400006", "SNOMEDCT:77381001", "medgen:2377", "icd11.foundation:2100138081", "ICD10:C83.7", "ICD9:200.2", "HP:0030080"], "information_content": 72.1}
{"id": "MONDO:0014357", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 24", "equivalent_identifiers": ["MONDO:0014357", "DOID:0070054", "OMIM:615828", "UMLS:C4014414", "medgen:862851"], "information_content": 100.0}
{"id": "MONDO:0007627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal facial dermal dysplasia type I", "equivalent_identifiers": ["MONDO:0007627", "OMIM:136500", "orphanet:79133", "UMLS:C5235196", "SNOMEDCT:789157007", "medgen:1718224"], "information_content": 100.0}
{"id": "MONDO:0018363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal facial dermal dysplasia", "equivalent_identifiers": ["MONDO:0018363", "OMIM.PS:136500", "orphanet:398166", "UMLS:C2936827", "UMLS:C4020754", "UMLS:C4023409", "MESH:C537068", "MESH:D000090303", "SNOMEDCT:789156003", "medgen:445408", "icd11.foundation:1200544726", "HP:0011336"], "information_content": 89.4}
{"id": "MONDO:0054728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 24", "equivalent_identifiers": ["MONDO:0054728", "DOID:0111929", "OMIM:617959", "UMLS:C4693751", "medgen:1646063"], "information_content": 100.0}
{"id": "MONDO:0054708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 80", "equivalent_identifiers": ["MONDO:0054708", "DOID:0061111", "OMIM:617781", "UMLS:C4540439", "medgen:1619674"], "information_content": 100.0}
{"id": "MONDO:0011738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral frontoparietal polymicrogyria", "equivalent_identifiers": ["MONDO:0011738", "DOID:0080922", "OMIM:606854", "orphanet:101070", "UMLS:C1847352", "MESH:C564652", "NCIT:C148367", "SNOMEDCT:890286007", "medgen:376107", "icd11.foundation:1119484699"], "information_content": 100.0}
{"id": "HP:0012650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perisylvian polymicrogyria", "equivalent_identifiers": ["HP:0012650", "UMLS:C3279675"], "information_content": 92.8}
{"id": "HP:0007266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral dysmyelination", "equivalent_identifiers": ["HP:0007266", "UMLS:C1854885", "UMLS:C4020810"], "information_content": 100.0}
{"id": "HP:0006821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal polymicrogyria", "equivalent_identifiers": ["HP:0006821", "UMLS:C1847356"], "information_content": 100.0}
{"id": "MONDO:0007557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa with congenital localized absence of skin and deformity of nails", "equivalent_identifiers": ["MONDO:0007557", "DOID:0111347", "OMIM:132000", "UMLS:C0268371", "MESH:C562638", "SNOMEDCT:2689001", "medgen:82797"], "information_content": 100.0}
{"id": "HP:0033803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sub-lamina densa cleavage", "equivalent_identifiers": ["HP:0033803", "UMLS:C5539822"], "information_content": 100.0}
{"id": "HP:0007383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital localized absence of skin", "equivalent_identifiers": ["HP:0007383", "UMLS:C2673597"], "information_content": 95.4}
{"id": "MONDO:0010592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal dermal hypoplasia", "equivalent_identifiers": ["MONDO:0010592", "DOID:2120", "OMIM:305600", "orphanet:2092", "UMLS:C0016395", "MESH:D005489", "NCIT:C84715", "SNOMEDCT:205573006", "medgen:42055", "icd11.foundation:683166625"], "information_content": 100.0}
{"id": "HP:0001807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ridged nail", "equivalent_identifiers": ["HP:0001807", "NCIT:C78499", "UMLS:C0423820", "MEDDRA:10062283", "SNOMEDCT:271768001"], "information_content": 95.4}
{"id": "HP:0001817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent fingernail", "equivalent_identifiers": ["HP:0001817", "UMLS:C1844554"], "information_content": 90.9}
{"id": "HP:0007510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal dermal aplasia/hypoplasia", "equivalent_identifiers": ["HP:0007510", "UMLS:C1834069"], "information_content": 100.0}
{"id": "HP:0030037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid ureter", "equivalent_identifiers": ["HP:0030037", "UMLS:C3887498", "MEDDRA:10085056"], "information_content": 95.4}
{"id": "HP:0006608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midclavicular hypoplasia", "equivalent_identifiers": ["HP:0006608", "UMLS:C1844530"], "information_content": 100.0}
{"id": "HP:0010740", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteopathia striata", "equivalent_identifiers": ["HP:0010740", "UMLS:C0265513", "MEDDRA:10073776", "MEDDRA:10073778", "SNOMEDCT:82663009"], "information_content": 100.0}
{"id": "HP:0001829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot polydactyly", "equivalent_identifiers": ["HP:0001829", "UMLS:C0158734", "MEDDRA:10036065", "SNOMEDCT:62218008"], "information_content": 84.2}
{"id": "HP:0007546", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear hyperpigmentation", "equivalent_identifiers": ["HP:0007546", "UMLS:C3278658"], "information_content": 95.4}
{"id": "HP:0006638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midclavicular aplasia", "equivalent_identifiers": ["HP:0006638", "UMLS:C1844529"], "information_content": 100.0}
{"id": "MONDO:0023597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal papillomatosis", "equivalent_identifiers": ["MONDO:0023597", "UMLS:C0396072", "MESH:C537876", "MEDDRA:10023850", "NCIT:C157733", "SNOMEDCT:232457008", "medgen:96006", "HP:0033001"], "information_content": 100.0}
{"id": "MONDO:0024567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 1", "equivalent_identifiers": ["MONDO:0024567", "OMIM:615419", "UMLS:C3809454", "medgen:815784"], "information_content": 100.0}
{"id": "HP:0000417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender nose", "equivalent_identifiers": ["HP:0000417", "UMLS:C1857645"], "information_content": 100.0}
{"id": "MONDO:0012883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute promyelocytic leukemia", "equivalent_identifiers": ["MONDO:0012883", "DOID:0060318", "DOID:0081081", "OMIM:612376", "orphanet:520", "EFO:0000224", "UMLS:C0023487", "UMLS:C5961168", "MESH:D015473", "MEDDRA:10001019", "MEDDRA:10001020", "NCIT:C3182", "SNOMEDCT:110004001", "SNOMEDCT:28950004", "medgen:44127", "ICD10:C92.4", "HP:0004836"], "information_content": 77.8}
{"id": "HP:0012135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal granulocytopoietic cell morphology", "equivalent_identifiers": ["HP:0012135", "UMLS:C4023031"], "information_content": 87.2}
{"id": "MONDO:0013110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegenerative syndrome due to cerebral folate transport deficiency", "equivalent_identifiers": ["MONDO:0013110", "DOID:0050719", "OMIM:613068", "orphanet:217382", "UMLS:C2751584", "UMLS:C4022901", "MESH:C567791", "MEDDRA:10088217", "SNOMEDCT:711403001", "medgen:442763", "icd11.foundation:1158040363", "HP:0012446"], "information_content": 100.0}
{"id": "MONDO:0009960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 1", "equivalent_identifiers": ["MONDO:0009960", "DOID:0110892", "OMIM:266600", "UMLS:C2675113"], "information_content": 100.0}
{"id": "MONDO:0004565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal obstruction", "equivalent_identifiers": ["MONDO:0004565", "DOID:8437", "UMLS:C0021843", "MESH:D007415", "MEDDRA:10006055", "MEDDRA:10022687", "MEDDRA:10022690", "MEDDRA:10029937", "MEDDRA:10029958", "MEDDRA:10045979", "NCIT:C9175", "SNOMEDCT:81060008", "medgen:43933", "ICD10:K56.609", "ICD9:560.9", "HP:0005214"], "information_content": 79.6}
{"id": "MONDO:1040017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal fistula", "equivalent_identifiers": ["MONDO:1040017", "UMLS:C0021833", "MESH:D007412", "MEDDRA:10022647", "NCIT:C34732", "SNOMEDCT:38851006", "medgen:5862", "HP:0100819"], "information_content": 83.1}
{"id": "MONDO:0013867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brown-Vialetto-van Laere syndrome 2", "equivalent_identifiers": ["MONDO:0013867", "DOID:0080786", "OMIM:614707", "orphanet:572550", "UMLS:C3553538", "NCIT:C183529", "medgen:766452"], "information_content": 100.0}
{"id": "HP:0000467", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck muscle weakness", "equivalent_identifiers": ["HP:0000467", "UMLS:C0240479", "MEDDRA:10078993"], "information_content": 95.4}
{"id": "MONDO:0030973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 77", "equivalent_identifiers": ["MONDO:0030973", "OMIM:619223", "UMLS:C5543173", "medgen:1788976"], "information_content": 100.0}
{"id": "HP:0031292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin Abscess", "equivalent_identifiers": ["HP:0031292", "NCIT:C99093", "UMLS:C0149777", "MEDDRA:10000320", "MEDDRA:10040784", "MEDDRA:10052588", "SNOMEDCT:31928004"], "information_content": 90.9}
{"id": "HP:0032261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nontuberculous mycobacterial pulmonary infection", "equivalent_identifiers": ["HP:0032261", "UMLS:C5139228"], "information_content": 100.0}
{"id": "MONDO:0005230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cellulitis", "equivalent_identifiers": ["MONDO:0005230", "DOID:3488", "EFO:0003035", "UMLS:C0007642", "UMLS:C0007646", "UMLS:C0162627", "MESH:D002481", "MEDDRA:10007882", "MEDDRA:10049022", "MEDDRA:10052891", "NCIT:C157794", "NCIT:C26715", "NCIT:C34454", "SNOMEDCT:128045006", "SNOMEDCT:128936008", "SNOMEDCT:385627004", "SNOMEDCT:62837005", "medgen:40174", "ICD10:L03.90", "HP:0100658"], "information_content": 89.4}
{"id": "OMIM:619545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HYPOPLASTIC FEMURS AND PELVIS", "equivalent_identifiers": ["OMIM:619545", "UMLS:C5561993"]}
{"id": "MONDO:0020798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism, familial isolated, 2", "equivalent_identifiers": ["MONDO:0020798", "OMIM:618883", "UMLS:C5394383", "medgen:1715177"], "information_content": 100.0}
{"id": "HP:0002199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocalcemic seizures", "equivalent_identifiers": ["HP:0002199", "UMLS:C1855841", "MEDDRA:10072456", "MEDDRA:10072462"], "information_content": 100.0}
{"id": "MONDO:0000328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatemia", "equivalent_identifiers": ["MONDO:0000328", "DOID:0050459", "UMLS:C0085681", "UMLS:C0553706", "MESH:D054559", "MEDDRA:10020711", "MEDDRA:10020712", "MEDDRA:10040371", "NCIT:C113750", "SNOMEDCT:20165001", "medgen:39326", "icd11.foundation:1745515193", "HP:0002905"], "information_content": 83.6}
{"id": "MONDO:0009875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achromatopsia 3", "equivalent_identifiers": ["MONDO:0009875", "DOID:0110008", "OMIM:262300", "UMLS:C1849792", "MESH:C536129", "medgen:340413"], "information_content": 100.0}
{"id": "MONDO:0009003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achromatopsia 2", "equivalent_identifiers": ["MONDO:0009003", "DOID:0110007", "OMIM:216900", "UMLS:C1857618", "UMLS:C5201048", "MESH:C536128", "MEDDRA:10055511", "NCIT:C168757", "SNOMEDCT:56852002", "SNOMEDCT:789675009", "medgen:387867", "HP:0007803"], "information_content": 90.9}
{"id": "HP:0007641", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyschromatopsia", "equivalent_identifiers": ["HP:0007641", "UMLS:C0858618", "MEDDRA:10013892"], "information_content": 85.5}
{"id": "HP:0007811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal pendular nystagmus", "equivalent_identifiers": ["HP:0007811", "UMLS:C1866180"], "information_content": 100.0}
{"id": "HP:0030515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderately reduced visual acuity", "equivalent_identifiers": ["HP:0030515", "UMLS:C1301510", "SNOMEDCT:397542006"], "information_content": 100.0}
{"id": "MONDO:0013558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 6", "equivalent_identifiers": ["MONDO:0013558", "DOID:0060544", "OMIM:614075", "UMLS:C3888007", "NCIT:C150369", "medgen:854714"], "information_content": 100.0}
{"id": "HP:0007443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial albinism", "equivalent_identifiers": ["HP:0007443", "UMLS:C5848166"], "information_content": 100.0}
{"id": "MONDO:0005133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometriosis", "equivalent_identifiers": ["MONDO:0005133", "DOID:289", "EFO:0001065", "UMLS:C0014175", "MESH:D004715", "MEDDRA:10014778", "MEDDRA:10014789", "MEDDRA:10087669", "NCIT:C3014", "SNOMEDCT:129103003", "SNOMEDCT:396224008", "medgen:8620", "icd11.foundation:1838213761", "ICD10:N80", "ICD9:617", "HP:0030127"], "information_content": 78.5}
{"id": "HP:0004871", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perineal fistula", "equivalent_identifiers": ["HP:0004871", "UMLS:C0561921", "MEDDRA:10056556", "SNOMEDCT:284077005"], "information_content": 88.2}
{"id": "HP:0011870", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired arachidonic acid-induced platelet aggregation", "equivalent_identifiers": ["HP:0011870", "UMLS:C4023155"], "information_content": 100.0}
{"id": "HP:0033263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent platelet dense granules", "equivalent_identifiers": ["HP:0033263", "UMLS:C1859918"], "information_content": 100.0}
{"id": "HP:0004866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired ADP-induced platelet aggregation", "equivalent_identifiers": ["HP:0004866", "UMLS:C4025282"], "information_content": 100.0}
{"id": "MONDO:0007890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lentiginosis, centrofacial neurodysraphic", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007890", "OMIM:151000", "UMLS:C1835484", "MESH:C563630", "medgen:372055"], "information_content": 100.0}
{"id": "MONDO:0009110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dicarboxylic aminoaciduria", "equivalent_identifiers": ["MONDO:0009110", "DOID:0060650", "OMIM:222730", "orphanet:2195", "UMLS:C1857253", "MESH:C536171", "SNOMEDCT:716747007", "medgen:387782", "icd11.foundation:1947265216"], "information_content": 100.0}
{"id": "HP:0003162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fasting hypoglycemia", "equivalent_identifiers": ["HP:0003162", "UMLS:C0271708", "MEDDRA:10078708", "MEDDRA:10078719", "SNOMEDCT:6974005"], "information_content": 100.0}
{"id": "HP:0032401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aspartic aciduria", "equivalent_identifiers": ["HP:0032401", "UMLS:C5139320"], "information_content": 100.0}
{"id": "MONDO:0029133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, limb-girdle, autosomal dominant 4", "equivalent_identifiers": ["MONDO:0029133", "OMIM:618129", "orphanet:565909", "UMLS:C4748295", "SNOMEDCT:1279886003", "medgen:1648316"], "information_content": 100.0}
{"id": "HP:0009023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal wall muscle weakness", "equivalent_identifiers": ["HP:0009023", "UMLS:C4021527"], "information_content": 95.4}
{"id": "HP:0007126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal amyotrophy", "equivalent_identifiers": ["HP:0007126", "UMLS:C1850794"], "information_content": 89.4}
{"id": "DOID:0070648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cherubism", "equivalent_identifiers": ["DOID:0070648", "DOID:1856", "OMIM:118400", "UMLS:C0008029", "MESH:D002636", "MEDDRA:10070535", "MEDDRA:10070536", "NCIT:C84630", "SNOMEDCT:76098004"], "information_content": 92.8}
{"id": "HP:0030793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jaw swelling", "equivalent_identifiers": ["HP:0030793", "UMLS:C4280766", "MEDDRA:10085235"], "information_content": 100.0}
{"id": "HP:6000715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central giant cell lesion of the jaw", "equivalent_identifiers": ["HP:6000715", "UMLS:C5937450"], "information_content": 100.0}
{"id": "HP:0030802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower eyelid retraction", "equivalent_identifiers": ["HP:0030802", "UMLS:C0578686", "UMLS:C1861656", "SNOMEDCT:302015009", "SNOMEDCT:700264006"], "information_content": 100.0}
{"id": "HP:0033176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Submandibular lymph node enlargement", "equivalent_identifiers": ["HP:0033176", "UMLS:C1264056", "MEDDRA:10063531", "SNOMEDCT:127082004"], "information_content": 100.0}
{"id": "HP:0200057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marcus Gunn pupil", "equivalent_identifiers": ["HP:0200057", "UMLS:C0549122", "MEDDRA:10063705", "SNOMEDCT:232122003", "SNOMEDCT:247015002"], "information_content": 100.0}
{"id": "HP:0200056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular scar", "equivalent_identifiers": ["HP:0200056", "UMLS:C0423428", "MEDDRA:10063185", "SNOMEDCT:18410006"], "information_content": 95.4}
{"id": "MONDO:0007962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalodactyly", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0007962", "OMIM:155500", "UMLS:C0265552", "MESH:C562546", "MEDDRA:10025386", "NCIT:C48900", "SNOMEDCT:48449000", "medgen:78564", "HP:0004099"], "information_content": 92.8}
{"id": "MONDO:0007489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysplasia epiphysealis hemimelica", "equivalent_identifiers": ["MONDO:0007489", "OMIM:127800", "orphanet:1822", "UMLS:C0432282", "MESH:C537997", "SNOMEDCT:205480005", "medgen:96591", "icd11.foundation:1995096940"], "information_content": 100.0}
{"id": "MONDO:0014977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2R1", "equivalent_identifiers": ["MONDO:0014977", "DOID:0080762", "OMIM:617232", "orphanet:480682", "UMLS:C4310660", "NCIT:C142082", "SNOMEDCT:1172703004", "medgen:934627"], "information_content": 100.0}
{"id": "HP:0030877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced FEV1/FVC ratio", "equivalent_identifiers": ["HP:0030877", "UMLS:C4280729"], "information_content": 100.0}
{"id": "MONDO:0009123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orthostatic hypotension 1", "equivalent_identifiers": ["MONDO:0009123", "DOID:0090145", "OMIM:223360", "orphanet:230", "UMLS:C0342687", "UMLS:C4746777", "MESH:C535600", "SNOMEDCT:237923004", "medgen:1648402"], "information_content": 100.0}
{"id": "HP:0005964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent hypothermia", "equivalent_identifiers": ["HP:0005964", "UMLS:C1837639"], "information_content": 100.0}
{"id": "HP:6000234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating dihydroxyphenylacetic acid concentration", "equivalent_identifiers": ["HP:6000234", "UMLS:C5937057"], "information_content": 100.0}
{"id": "HP:6000994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lack of pupillary response to hydroxyamphetamine", "equivalent_identifiers": ["HP:6000994", "UMLS:C5970336"], "information_content": 100.0}
{"id": "HP:0012877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dry Orgasm", "equivalent_identifiers": ["HP:0012877", "NCIT:C4698", "UMLS:C0403673", "MEDDRA:10038967", "SNOMEDCT:50112006", "MESH:D000097908"], "information_content": 100.0}
{"id": "HP:6000556", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating dopamine beta-hydroxylase activity", "equivalent_identifiers": ["HP:6000556", "UMLS:C5937318"], "information_content": 100.0}
{"id": "MONDO:0009911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prolactin deficiency, isolated", "equivalent_identifiers": ["MONDO:0009911", "OMIM:264110", "UMLS:C0271586", "MESH:C562708", "MEDDRA:10021082", "MEDDRA:10060495", "NCIT:C121140", "SNOMEDCT:67873006", "medgen:75758", "HP:0008202"], "information_content": 100.0}
{"id": "MONDO:0014180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "equivalent_identifiers": ["MONDO:0014180", "OMIM:615425", "orphanet:412181", "UMLS:C3809470", "medgen:815800"], "information_content": 100.0}
{"id": "HP:0001075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophic scars", "equivalent_identifiers": ["HP:0001075", "UMLS:C0162154", "SNOMEDCT:239172000", "SNOMEDCT:409766009"], "information_content": 92.8}
{"id": "HP:0032449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dermoepidermal hemidesmosome morphology", "equivalent_identifiers": ["HP:0032449", "UMLS:C5139350"], "information_content": 92.8}
{"id": "MONDO:0014135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension, primary, 3", "equivalent_identifiers": ["MONDO:0014135", "OMIM:615343", "UMLS:C3809192", "medgen:815522"], "information_content": 100.0}
{"id": "HP:0004890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated pulmonary artery pressure", "equivalent_identifiers": ["HP:0004890", "UMLS:C3805917"], "information_content": 86.3}
{"id": "HP:0005317", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased pulmonary vascular resistance", "equivalent_identifiers": ["HP:0005317", "UMLS:C1867423", "MEDDRA:10067285"], "information_content": 100.0}
{"id": "MONDO:0012045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myopia 5", "equivalent_identifiers": ["MONDO:0012045", "OMIM:608474", "UMLS:C1837972", "MESH:C563922", "medgen:324913"], "information_content": 100.0}
{"id": "MONDO:0014817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 12", "equivalent_identifiers": ["MONDO:0014817", "DOID:0080387", "OMIM:616892", "UMLS:C4225166", "medgen:904365"], "information_content": 100.0}
{"id": "MONDO:0009733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 4", "equivalent_identifiers": ["MONDO:0009733", "DOID:0080383", "OMIM:256370", "UMLS:C0268747", "UMLS:C3151568", "MESH:C537346", "MEDDRA:10054832", "NCIT:C121198", "SNOMEDCT:111406002", "medgen:462918", "HP:0001967"], "information_content": 95.4}
{"id": "MONDO:0032862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus, congenital communicating, 1", "equivalent_identifiers": ["MONDO:0032862", "OMIM:618667", "UMLS:C5231454", "medgen:1684770"], "information_content": 100.0}
{"id": "MONDO:0011036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porencephaly-cerebellar hypoplasia-internal malformations syndrome", "equivalent_identifiers": ["MONDO:0011036", "OMIM:601322", "orphanet:2941", "UMLS:C0796119", "UMLS:C1832472", "MESH:C536336", "SNOMEDCT:763821001", "medgen:331296"], "information_content": 100.0}
{"id": "MONDO:0012625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 37", "equivalent_identifiers": ["MONDO:0012625", "DOID:0110399", "OMIM:611131", "UMLS:C1970163", "MESH:C567005", "medgen:410004"], "information_content": 100.0}
{"id": "MONDO:0008610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tritanomaly", "equivalent_identifiers": ["MONDO:0008610", "DOID:11661", "OMIM:190900", "orphanet:88629", "UMLS:C0155017", "UMLS:C1970167", "MEDDRA:10044690", "MEDDRA:10086328", "MEDDRA:10086329", "SNOMEDCT:51886007", "SNOMEDCT:85049009", "medgen:57827", "ICD10:H53.55", "ICD9:368.53", "HP:0000552"], "information_content": 100.0}
{"id": "MONDO:0001919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystoid macular retinal degeneration", "equivalent_identifiers": ["MONDO:0001919", "DOID:14245", "UMLS:C0154850", "MEDDRA:10011811", "SNOMEDCT:14046000", "medgen:472900", "ICD10:H35.35", "ICD9:362.53", "HP:0008028"], "information_content": 100.0}
{"id": "MONDO:0010564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "red-green color blindness", "equivalent_identifiers": ["MONDO:0010564", "DOID:13909", "OMIM:303800", "EFO:0005581", "UMLS:C0155016", "UMLS:C1970168", "MEDDRA:10012551", "MEDDRA:10065936", "SNOMEDCT:246674000", "SNOMEDCT:77479002", "medgen:102324", "ICD9:368.52", "HP:0000642"], "information_content": 89.4}
{"id": "MONDO:0054601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary adenoma 5, multiple types", "equivalent_identifiers": ["MONDO:0054601", "DOID:0112008", "OMIM:617540", "UMLS:C4539685", "medgen:1615593"], "information_content": 100.0}
{"id": "MONDO:0006373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary gland adenoma", "equivalent_identifiers": ["MONDO:0006373", "DOID:3829", "orphanet:99408", "EFO:1000478", "UMLS:C0032000", "MEDDRA:10035079", "NCIT:C3329", "SNOMEDCT:128664001", "SNOMEDCT:254956000", "medgen:45933", "HP:0002893"], "information_content": 72.0}
{"id": "MONDO:0013544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 11", "equivalent_identifiers": ["MONDO:0013544", "OMIM:614049", "UMLS:C3279693", "medgen:481323"], "information_content": 100.0}
{"id": "MONDO:0012905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 6", "equivalent_identifiers": ["MONDO:0012905", "DOID:0060798", "OMIM:612438", "orphanet:139441", "UMLS:C2676244", "MESH:C567314", "NCIT:C183310", "SNOMEDCT:724283004", "medgen:436642"], "information_content": 100.0}
{"id": "HP:0006808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral hypomyelination", "equivalent_identifiers": ["HP:0006808", "UMLS:C2677328"], "information_content": 100.0}
{"id": "MONDO:0014183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 23, autosomal recessive", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014183", "OMIM:615431", "UMLS:C3809482", "medgen:815812"], "information_content": 100.0}
{"id": "HP:0007800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased axial length of the globe", "equivalent_identifiers": ["HP:0007800", "UMLS:C1835117"], "information_content": 100.0}
{"id": "MONDO:0020855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 32", "equivalent_identifiers": ["MONDO:0020855", "DOID:0111925", "OMIM:618115", "UMLS:C4748253", "medgen:1648444"], "information_content": 100.0}
{"id": "HP:0034299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sertoli cell-only phenotype", "equivalent_identifiers": ["HP:0034299", "UMLS:C5706155"], "information_content": 100.0}
{"id": "HP:0011961", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-obstructive azoospermia", "equivalent_identifiers": ["HP:0011961", "UMLS:C4021107"], "information_content": 95.4}
{"id": "MONDO:0009903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial acrofacial dysostosis", "equivalent_identifiers": ["MONDO:0009903", "DOID:0111259", "OMIM:263750", "orphanet:246", "UMLS:C0265257", "MESH:C537680", "SNOMEDCT:66038001", "medgen:120522", "icd11.foundation:70602060"], "information_content": 100.0}
{"id": "HP:0005211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midgut malrotation", "equivalent_identifiers": ["HP:0005211", "UMLS:C1849706"], "information_content": 100.0}
{"id": "HP:0001760", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal foot morphology", "equivalent_identifiers": ["HP:0001760", "UMLS:C0016506", "UMLS:C5399834", "MEDDRA:10016966", "MEDDRA:10061159", "SNOMEDCT:229844004", "MESH:D005530"], "information_content": 54.6}
{"id": "HP:0002946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supernumerary vertebrae", "equivalent_identifiers": ["HP:0002946", "UMLS:C0265681", "MEDDRA:10077919", "SNOMEDCT:87294007"], "information_content": 85.5}
{"id": "MONDO:0020357", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft eyelid", "equivalent_identifiers": ["MONDO:0020357", "orphanet:98946", "UMLS:C0521573", "MESH:C000721288", "NCIT:C98878", "SNOMEDCT:95202004", "medgen:141737", "icd11.foundation:684436925", "HP:0000625"], "information_content": 92.8}
{"id": "MONDO:0014504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome 5", "equivalent_identifiers": ["MONDO:0014504", "OMIM:616138", "UMLS:C4015307", "medgen:863744"], "information_content": 100.0}
{"id": "MONDO:0010964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia, multiple, 3", "equivalent_identifiers": ["MONDO:0010964", "DOID:0070304", "OMIM:600969", "UMLS:C1832998", "UMLS:C3152083", "MESH:C535503", "medgen:322091"], "information_content": 100.0}
{"id": "HP:0001384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hip joint morphology", "equivalent_identifiers": ["HP:0001384", "UMLS:C4020870"], "information_content": 76.9}
{"id": "OMIM:620461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12", "equivalent_identifiers": ["OMIM:620461", "UMLS:C5882673"]}
{"id": "HP:0025313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exophoria", "equivalent_identifiers": ["HP:0025313", "UMLS:C0423065", "MEDDRA:10015678", "SNOMEDCT:46343005"], "information_content": 100.0}
{"id": "HP:0020221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clonic seizure", "equivalent_identifiers": ["HP:0020221", "NCIT:C50496", "UMLS:C0234535", "MEDDRA:10009340", "MEDDRA:10053398", "SNOMEDCT:192991000"], "information_content": 84.2}
{"id": "MONDO:0009583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis - intellectual disability syndrome, Ohdo type", "equivalent_identifiers": ["MONDO:0009583", "OMIM:249620", "orphanet:2728", "UMLS:C0796094", "MESH:C536232", "SNOMEDCT:412787009", "medgen:162905"], "information_content": 100.0}
{"id": "MONDO:0005035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ganglioneuroblastoma", "equivalent_identifiers": ["MONDO:0005035", "DOID:4163", "orphanet:251877", "EFO:0000502", "UMLS:C0206718", "MESH:D018305", "MEDDRA:10017708", "NCIT:C3790", "SNOMEDCT:116381000119105", "SNOMEDCT:69515008", "medgen:60218", "HP:0006747"], "information_content": 80.9}
{"id": "HP:0011979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary dopamine level", "equivalent_identifiers": ["HP:0011979", "UMLS:C4023099"], "information_content": 95.4}
{"id": "HP:0011976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary catecholamine level", "equivalent_identifiers": ["HP:0011976", "UMLS:C0241577", "MEDDRA:10007803", "MEDDRA:10007804", "MEDDRA:10007808", "MEDDRA:10046534", "MEDDRA:10061034"], "information_content": 86.3}
{"id": "HP:0010543", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opsoclonus", "equivalent_identifiers": ["HP:0010543", "NCIT:C118720", "UMLS:C0242567", "MEDDRA:10090043", "SNOMEDCT:194177006"], "information_content": 100.0}
{"id": "HP:0011978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary vanillylmandelic acid", "equivalent_identifiers": ["HP:0011978", "UMLS:C4020735"], "information_content": 100.0}
{"id": "HP:0033823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mediastinal mass", "equivalent_identifiers": ["HP:0033823", "NCIT:C35295", "UMLS:C0240318", "MEDDRA:10027076", "SNOMEDCT:94147001"], "information_content": 80.9}
{"id": "HP:0011281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of urine catecholamine level", "equivalent_identifiers": ["HP:0011281", "UMLS:C4023433", "UMLS:C5676599", "MP:0011478"], "information_content": 80.6}
{"id": "MONDO:0005033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ganglioneuroma", "equivalent_identifiers": ["MONDO:0005033", "DOID:4817", "orphanet:251992", "EFO:0000500", "UMLS:C0017075", "UMLS:C1513025", "MEDDRA:10017709", "NCIT:C3049", "NCIT:C42065", "SNOMEDCT:116371000119107", "SNOMEDCT:128919000", "SNOMEDCT:53801007", "medgen:6545", "HP:0003005"], "information_content": 83.1}
{"id": "MONDO:0001294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horner syndrome", "equivalent_identifiers": ["MONDO:0001294", "DOID:11486", "UMLS:C0019937", "UMLS:C5779792", "MESH:D006732", "MEDDRA:10020392", "NCIT:C28155", "SNOMEDCT:12731000", "SNOMEDCT:1281810006", "SNOMEDCT:192915005", "SNOMEDCT:271730003", "medgen:5616", "icd11.foundation:178756462", "ICD10:G90.2", "HP:0002277"], "information_content": 95.4}
{"id": "HP:0002176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal cord compression", "equivalent_identifiers": ["HP:0002176", "EFO:1001845", "NCIT:C3380", "UMLS:C0037926", "MEDDRA:10041549", "MEDDRA:10052006", "SNOMEDCT:71286001", "MESH:D013117"], "information_content": 92.8}
{"id": "HP:0200036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin nodule", "equivalent_identifiers": ["HP:0200036", "NCIT:C3373", "UMLS:C0037287", "MEDDRA:10029494", "MEDDRA:10040902", "SNOMEDCT:95319004"], "information_content": 67.4}
{"id": "MONDO:0000598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aphasia", "equivalent_identifiers": ["MONDO:0000598", "DOID:0060046", "UMLS:C0003537", "MESH:D001037", "MEDDRA:10002948", "MEDDRA:10077899", "NCIT:C34393", "SNOMEDCT:87486003", "medgen:8159", "icd11.foundation:1167055901", "HP:0002381"], "information_content": 89.4}
{"id": "HP:0040147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "L-2-hydroxyglutaric acidemia", "equivalent_identifiers": ["HP:0040147", "UMLS:C3888081"], "information_content": 100.0}
{"id": "HP:0007258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe demyelination of the white matter", "equivalent_identifiers": ["HP:0007258", "UMLS:C1856001"], "information_content": 100.0}
{"id": "MONDO:0030009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia-intellectual disability syndrome 4", "equivalent_identifiers": ["MONDO:0030009", "DOID:0080950", "OMIM:618840", "UMLS:C5394241", "medgen:1713432"], "information_content": 100.0}
{"id": "MONDO:0957871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with vanishing white matter 3", "equivalent_identifiers": ["MONDO:0957871", "DOID:0070372", "OMIM:620313", "UMLS:C5830405", "medgen:1841041"], "information_content": 100.0}
{"id": "HP:0012377", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemianopia", "equivalent_identifiers": ["HP:0012377", "NCIT:C118731", "UMLS:C0018979", "MEDDRA:10019452", "MEDDRA:10019457", "MEDDRA:10019458", "SNOMEDCT:77674003", "MESH:D006423"], "information_content": 87.2}
{"id": "MONDO:0008994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleidocranial dysplasia, recessive form", "equivalent_identifiers": ["MONDO:0008994", "OMIM:216330", "UMLS:C1859080", "MESH:C565843", "medgen:395170"], "information_content": 100.0}
{"id": "MONDO:0007499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ear folding", "equivalent_identifiers": ["MONDO:0007499", "OMIM:128500", "UMLS:C1851901", "medgen:377546"], "information_content": 100.0}
{"id": "MONDO:0007500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ear malformation", "equivalent_identifiers": ["MONDO:0007500", "OMIM:128600", "UMLS:C0266589", "MEDDRA:10010451", "MEDDRA:10014016", "MEDDRA:10014017", "MEDDRA:10045698", "SNOMEDCT:275259005", "medgen:75618", "HP:0000598"], "information_content": 54.0}
{"id": "MONDO:0100433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACTB-associated syndromic thrombocytopenia", "equivalent_identifiers": ["MONDO:0100433", "OMIM:620475", "orphanet:674653", "UMLS:C5882677", "medgen:1851006"], "information_content": 100.0}
{"id": "HP:0011877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased mean platelet volume", "equivalent_identifiers": ["HP:0011877", "UMLS:C1096367", "MEDDRA:10055052"], "information_content": 89.4}
{"id": "HP:4000170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-platelet antigen antibody positivity", "equivalent_identifiers": ["HP:4000170", "UMLS:C5826899"], "information_content": 100.0}
{"id": "HP:0032438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Platelet anisocytosis", "equivalent_identifiers": ["HP:0032438", "UMLS:C1739105", "MEDDRA:10066294"], "information_content": 100.0}
{"id": "HP:0004308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular arrhythmia", "equivalent_identifiers": ["HP:0004308", "NCIT:C26924", "UMLS:C0085612", "MEDDRA:10003131", "MEDDRA:10003132", "MEDDRA:10047281", "MEDDRA:10047282", "SNOMEDCT:44103008"], "information_content": 80.9}
{"id": "MONDO:0011304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cavernous malformation 2", "equivalent_identifiers": ["MONDO:0011304", "DOID:0060670", "OMIM:603284", "UMLS:C1864041", "MESH:C566394", "medgen:400438", "ICD10:Q28.3"], "information_content": 100.0}
{"id": "MONDO:0013967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 14B", "equivalent_identifiers": ["MONDO:0013967", "DOID:0081274", "OMIM:614920", "UMLS:C3554055", "medgen:766969"], "information_content": 100.0}
{"id": "MONDO:0012890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 2B", "equivalent_identifiers": ["MONDO:0012890", "DOID:0060268", "OMIM:612389", "UMLS:C2676466", "MESH:C567325", "medgen:393505"], "information_content": 100.0}
{"id": "HP:0007308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extrapyramidal dyskinesia", "equivalent_identifiers": ["HP:0007308", "UMLS:C1848528"], "information_content": 100.0}
{"id": "MONDO:0010961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to prohormone convertase I deficiency", "equivalent_identifiers": ["MONDO:0010961", "DOID:0111698", "OMIM:600955", "orphanet:71528", "UMLS:C1833053", "UMLS:C4302878", "MESH:C563423", "SNOMEDCT:722053001", "medgen:318777"], "information_content": 100.0}
{"id": "HP:0012051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reactive hypoglycemia", "equivalent_identifiers": ["HP:0012051", "UMLS:C0271710", "MEDDRA:10021003", "MEDDRA:10021009", "MEDDRA:10037949", "MEDDRA:10059035", "MEDDRA:10059038", "MEDDRA:10060409", "MEDDRA:10079747", "MEDDRA:10079748", "MEDDRA:10087603", "SNOMEDCT:237638000", "SNOMEDCT:317006"], "information_content": 100.0}
{"id": "HP:0040216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoinsulinemia", "equivalent_identifiers": ["HP:0040216", "UMLS:C2748055", "MEDDRA:10070070", "MEDDRA:10070082"], "information_content": 95.4}
{"id": "HP:6000419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating proinsulin concentration", "equivalent_identifiers": ["HP:6000419", "UMLS:C5937200"], "information_content": 100.0}
{"id": "MONDO:0011094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1C", "equivalent_identifiers": ["MONDO:0011094", "DOID:0110423", "DOID:0110452", "OMIM:601493", "UMLS:C1832244", "UMLS:C3152137", "UMLS:C4225414", "MESH:C563307", "NCIT:C170436", "medgen:316944", "ICD10:I42.0"], "information_content": 100.0}
{"id": "MONDO:0958200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked 113", "equivalent_identifiers": ["MONDO:0958200", "OMIM:301116", "UMLS:C5882666", "medgen:1852264"], "information_content": 100.0}
{"id": "MONDO:0014799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 45", "equivalent_identifiers": ["MONDO:0014799", "DOID:0110262", "OMIM:616851", "UMLS:C4225182", "medgen:895198"], "information_content": 100.0}
{"id": "OMIM:129150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ECHO VIRUS 11 SENSITIVITY", "equivalent_identifiers": ["OMIM:129150", "UMLS:C1851888", "MESH:C565071"]}
{"id": "HP:0002715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the immune system", "equivalent_identifiers": ["HP:0002715", "UMLS:C4021753"], "information_content": 45.1}
{"id": "MONDO:0014737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dehydrated hereditary stomatocytosis 2", "equivalent_identifiers": ["MONDO:0014737", "DOID:0111577", "OMIM:616689", "UMLS:C4225242", "medgen:908701"], "information_content": 100.0}
{"id": "HP:0025548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased mean corpuscular hemoglobin concentration", "equivalent_identifiers": ["HP:0025548", "UMLS:C0427444", "MEDDRA:10087269", "SNOMEDCT:165448003"], "information_content": 100.0}
{"id": "HP:0020122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bite cells", "equivalent_identifiers": ["HP:0020122"], "information_content": 100.0}
{"id": "HP:0004823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anisopoikilocytosis", "equivalent_identifiers": ["HP:0004823", "NCIT:C96206", "UMLS:C2675920"], "information_content": 87.2}
{"id": "MONDO:0027048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, Y-linked 2", "equivalent_identifiers": ["MONDO:0027048", "DOID:0111758", "OMIM:400047", "UMLS:C5193013", "medgen:1677048"], "information_content": 100.0}
{"id": "MONDO:0009761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic hygroma", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009761", "DOID:3081", "OMIM:257350", "EFO:1000888", "UMLS:C0206620", "MESH:D018191", "MEDDRA:10011769", "MEDDRA:10020543", "MEDDRA:10058949", "NCIT:C3724", "SNOMEDCT:399882002", "SNOMEDCT:40225001", "SNOMEDCT:423984004", "medgen:60195", "HP:0000476"], "information_content": 90.9}
{"id": "HP:0010878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal cystic hygroma", "equivalent_identifiers": ["HP:0010878", "UMLS:C0948242", "MEDDRA:10052011", "MEDDRA:10054729", "MESH:C537852"], "information_content": 100.0}
{"id": "MONDO:0012380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 53", "equivalent_identifiers": ["MONDO:0012380", "DOID:0110579", "OMIM:609965", "UMLS:C1864957", "MESH:C566495", "medgen:355336"], "information_content": 100.0}
{"id": "MONDO:0030028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline", "equivalent_identifiers": ["MONDO:0030028", "OMIM:618868", "UMLS:C5394335", "medgen:1715031"], "information_content": 100.0}
{"id": "HP:0002073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive cerebellar ataxia", "equivalent_identifiers": ["HP:0002073", "UMLS:C0393525", "SNOMEDCT:230233000"], "information_content": 100.0}
{"id": "HP:0033048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Substantia nigra hypointensity on susceptibility-weighted imaging", "equivalent_identifiers": ["HP:0033048", "UMLS:C5421570"], "information_content": 100.0}
{"id": "HP:0033049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Globus pallidus hypointensity on susceptibility-weighted imaging", "equivalent_identifiers": ["HP:0033049", "UMLS:C5421571"], "information_content": 100.0}
{"id": "MONDO:0012712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia with cerebellar atrophy", "equivalent_identifiers": ["MONDO:0012712", "OMIM:611694", "UMLS:C2673697", "MESH:C567131", "medgen:392987"], "information_content": 100.0}
{"id": "MONDO:0000486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial dystonia", "equivalent_identifiers": ["MONDO:0000486", "DOID:0050845", "UMLS:C1851915", "UMLS:C4023011", "UMLS:C4072883", "medgen:868612", "HP:0012179"], "information_content": 87.2}
{"id": "MONDO:0957535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 112", "equivalent_identifiers": ["MONDO:0957535", "DOID:0061079", "OMIM:620449", "UMLS:C5830633", "medgen:1841269"], "information_content": 100.0}
{"id": "HP:0500271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased gamma-delta T cell proportion", "equivalent_identifiers": ["HP:0500271", "UMLS:C5398020"], "information_content": 95.4}
{"id": "HP:0100828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased total T cell count", "equivalent_identifiers": ["HP:0100828", "UMLS:C4021960"], "information_content": 73.6}
{"id": "HP:0005404", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased total B cell count", "equivalent_identifiers": ["HP:0005404", "UMLS:C1858972"], "information_content": 79.6}
{"id": "MONDO:0013978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 70", "equivalent_identifiers": ["MONDO:0013978", "DOID:0110521", "OMIM:614934", "UMLS:C1824925", "medgen:760477"], "information_content": 100.0}
{"id": "MONDO:0700338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant", "equivalent_identifiers": ["MONDO:0700338", "OMIM:621030", "UMLS:C5975538"], "information_content": 100.0}
{"id": "HP:0033605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pustular rash", "equivalent_identifiers": ["HP:0033605", "NCIT:C111967", "NCIT:C90597", "UMLS:C0085641", "UMLS:C3828435", "UMLS:C5539717", "MEDDRA:10037576", "MEDDRA:10037577", "MEDDRA:10037888", "SNOMEDCT:48055004"], "information_content": 100.0}
{"id": "HP:6000374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating interleukin 1beta concentration", "equivalent_identifiers": ["HP:6000374", "UMLS:C5937166"], "information_content": 100.0}
{"id": "HP:0003493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antinuclear antibody positivity", "equivalent_identifiers": ["HP:0003493", "NCIT:C50701", "UMLS:C0151480", "MEDDRA:10002031", "MEDDRA:10002743", "MEDDRA:10002806", "MEDDRA:10002810", "MEDDRA:10002814", "MEDDRA:10002815", "MEDDRA:10060055", "MEDDRA:10060060", "SNOMEDCT:165850001"], "information_content": 78.8}
{"id": "MONDO:0021562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omphalitis", "equivalent_identifiers": ["MONDO:0021562", "UMLS:C0028992", "UMLS:C0158947", "MEDDRA:10030306", "MEDDRA:10030307", "NCIT:C116008", "SNOMEDCT:239095007", "SNOMEDCT:42052009", "medgen:508000", "HP:0032435"], "information_content": 95.4}
{"id": "HP:0011897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neutrophilia", "equivalent_identifiers": ["HP:0011897", "NCIT:C35164", "UMLS:C0151683", "UMLS:C4023140", "MEDDRA:10029367", "MEDDRA:10029368", "MEDDRA:10029381", "SNOMEDCT:165518003"], "information_content": 80.2}
{"id": "MONDO:0006591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panniculitis", "equivalent_identifiers": ["MONDO:0006591", "DOID:1526", "EFO:1000746", "UMLS:C0030326", "MESH:D015434", "MEDDRA:10033674", "MEDDRA:10033675", "MEDDRA:10033680", "MEDDRA:10033681", "NCIT:C112112", "NCIT:C33645", "SNOMEDCT:22125009", "medgen:45301", "icd11.foundation:1056888958", "ICD10:M79.3", "ICD9:729.30", "HP:0012490"], "information_content": 82.6}
{"id": "MONDO:0005025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocarditis", "equivalent_identifiers": ["MONDO:0005025", "DOID:10314", "EFO:0000465", "UMLS:C0014118", "UMLS:C0375268", "MESH:D004696", "MEDDRA:10000729", "MEDDRA:10014665", "MEDDRA:10014681", "MEDDRA:10049001", "NCIT:C34582", "NCIT:C35432", "SNOMEDCT:56819008", "SNOMEDCT:91357005", "medgen:4940", "ICD10:I33.9", "ICD9:421.9", "HP:0100584"], "information_content": 82.1}
{"id": "MONDO:0004830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fasciitis", "equivalent_identifiers": ["MONDO:0004830", "DOID:9598", "UMLS:C0015645", "MESH:D005208", "MEDDRA:10016228", "MEDDRA:10016230", "MEDDRA:10016231", "MEDDRA:10016238", "NCIT:C50559", "SNOMEDCT:36948007", "medgen:4658", "ICD10:M72.9", "ICD9:729.4", "HP:0100537"], "information_content": 85.5}
{"id": "MONDO:0011909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease dominant intermediate D", "equivalent_identifiers": ["MONDO:0011909", "DOID:0110200", "OMIM:607791", "orphanet:100046", "UMLS:C1843075", "MESH:C564333", "SNOMEDCT:765747004", "medgen:334318"], "information_content": 90.9}
{"id": "MONDO:0008758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alpers Syndrome", "equivalent_identifiers": ["MONDO:0008758", "DOID:0080122", "OMIM:203700", "orphanet:726", "UMLS:C0205710", "MEDDRA:10062943", "MEDDRA:10083857", "NCIT:C35257", "SNOMEDCT:20415001", "medgen:60012", "ICD10:G31.81"], "information_content": 100.0}
{"id": "HP:0012072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aciduria", "equivalent_identifiers": ["HP:0012072", "UMLS:C0278026", "SNOMEDCT:21806007"], "information_content": 63.9}
{"id": "HP:0002791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoventilation", "equivalent_identifiers": ["HP:0002791", "EFO:0009842", "NCIT:C116314", "NCIT:C50594", "UMLS:C0235063", "UMLS:C3203358", "MEDDRA:10012396", "MEDDRA:10017477", "MEDDRA:10021133", "MEDDRA:10025093", "MEDDRA:10025094", "MEDDRA:10038650", "MEDDRA:10038678", "MEDDRA:10047267", "MEDDRA:10070958", "SNOMEDCT:15993004", "SNOMEDCT:31515003", "SNOMEDCT:80954004", "MESH:D007040"], "information_content": 89.4}
{"id": "HP:0002273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tetraparesis", "equivalent_identifiers": ["HP:0002273", "UMLS:C0270790", "MEDDRA:10049680", "MEDDRA:10083066", "SNOMEDCT:91327001"], "information_content": 95.4}
{"id": "HP:0031358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vegetative state", "equivalent_identifiers": ["HP:0031358", "UMLS:C0917808"], "information_content": 100.0}
{"id": "HP:0000649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of visual evoked potentials", "equivalent_identifiers": ["HP:0000649", "UMLS:C0522214", "MEDDRA:10015558", "MEDDRA:10029711", "MEDDRA:10047311", "MEDDRA:10047549", "SNOMEDCT:102968003"], "information_content": 82.1}
{"id": "HP:0011166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal myoclonic seizure", "equivalent_identifiers": ["HP:0011166", "UMLS:C4023501", "SNOMEDCT:1259197000"], "information_content": 90.9}
{"id": "HP:0012050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anasarca", "equivalent_identifiers": ["HP:0012050", "NCIT:C98811", "UMLS:C0151603", "MEDDRA:10002241", "MEDDRA:10016808", "MEDDRA:10086326", "MEDDRA:10086341", "SNOMEDCT:16740003", "SNOMEDCT:442433009"], "information_content": 100.0}
{"id": "HP:0032860", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized non-convulsive status epilepticus without coma", "equivalent_identifiers": ["HP:0032860", "UMLS:C0270823", "MEDDRA:10034760", "MEDDRA:10041964", "SNOMEDCT:7033004"], "information_content": 90.9}
{"id": "HP:0006964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral cortical neurodegeneration", "equivalent_identifiers": ["HP:0006964", "UMLS:C1859863"], "information_content": 100.0}
{"id": "MONDO:0014162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency", "equivalent_identifiers": ["MONDO:0014162", "DOID:0111469", "OMIM:615395", "orphanet:352563", "UMLS:C3809339", "medgen:815669"], "information_content": 100.0}
{"id": "MONDO:0013979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 19", "equivalent_identifiers": ["MONDO:0013979", "DOID:0110608", "OMIM:614935", "UMLS:C3543826", "medgen:762332"], "information_content": 100.0}
{"id": "HP:0200073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory insufficiency due to defective ciliary clearance", "equivalent_identifiers": ["HP:0200073", "UMLS:C3552099"], "information_content": 100.0}
{"id": "MONDO:0016575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia", "equivalent_identifiers": ["MONDO:0016575", "DOID:0050144", "DOID:50144", "DOID:9562", "OMIM.PS:244400", "orphanet:244", "EFO:1001352", "UMLS:C0008780", "UMLS:C0022521", "UMLS:C4317124", "UMLS:C4551720", "MESH:D002925", "MESH:D007619", "MEDDRA:10023299", "MEDDRA:10060882", "MEDDRA:10069713", "NCIT:C84638", "NCIT:C84797", "SNOMEDCT:42402006", "SNOMEDCT:86204009", "medgen:3467", "icd11.foundation:1713839459", "HP:0012265"], "information_content": 73.0}
{"id": "MONDO:0957534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts 4, remitting", "equivalent_identifiers": ["MONDO:0957534", "OMIM:620448", "UMLS:C5830628", "medgen:1841264"], "information_content": 100.0}
{"id": "HP:6000461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral subcortical cyst", "equivalent_identifiers": ["HP:6000461", "UMLS:C5937230"], "information_content": 100.0}
{"id": "MONDO:0010265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simpson-Golabi-Behmel syndrome type 2", "equivalent_identifiers": ["MONDO:0010265", "DOID:0080342", "OMIM:300209", "UMLS:C1846175", "MESH:C564567", "medgen:337527"], "information_content": 100.0}
{"id": "MONDO:0011093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 9", "equivalent_identifiers": ["MONDO:0011093", "DOID:0050809", "OMIM:601492", "orphanet:67041", "UMLS:C1291490", "MESH:C563209", "NCIT:C129073", "SNOMEDCT:124473006", "medgen:226942", "icd11.foundation:952591271"], "information_content": 100.0}
{"id": "HP:0030840", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle pain", "equivalent_identifiers": ["HP:0030840", "UMLS:C0238656", "MEDDRA:10033379", "MEDDRA:10033420", "MEDDRA:10033501", "SNOMEDCT:202490009", "SNOMEDCT:247373008"], "information_content": 100.0}
{"id": "HP:0030838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip pain", "equivalent_identifiers": ["HP:0030838", "NCIT:C34699", "UMLS:C4551516", "MEDDRA:10011249", "MEDDRA:10033432", "MEDDRA:10033509", "SNOMEDCT:49218002"], "information_content": 95.4}
{"id": "HP:0005072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wrist hypermobility", "equivalent_identifiers": ["HP:0005072", "UMLS:C1850853"], "information_content": 100.0}
{"id": "HP:6000969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished circulating hyaluronidase activity", "equivalent_identifiers": ["HP:6000969", "UMLS:C5970313"], "information_content": 100.0}
{"id": "MONDO:0008288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "popliteal cyst", "equivalent_identifiers": ["MONDO:0008288", "OMIM:175750", "UMLS:C0032650", "MESH:D011151", "MEDDRA:10004069", "MEDDRA:10042859", "MEDDRA:10063048", "NCIT:C34935", "SNOMEDCT:1290249005", "SNOMEDCT:82675004", "medgen:10853", "HP:0032072"], "information_content": 100.0}
{"id": "MONDO:0002400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synovitis", "equivalent_identifiers": ["MONDO:0002400", "DOID:2703", "EFO:0008997", "UMLS:C0039103", "MESH:D013585", "MEDDRA:10042868", "NCIT:C50766", "SNOMEDCT:416209007", "medgen:21051", "HP:0100769"], "information_content": 92.8}
{"id": "HP:0010485", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperextensibility at elbow", "equivalent_identifiers": ["HP:0010485", "UMLS:C4023808"], "information_content": 100.0}
{"id": "HP:0033640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acetabular erosions", "equivalent_identifiers": ["HP:0033640", "UMLS:C5539737"], "information_content": 100.0}
{"id": "HP:0020127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periarticular soft-tissue mass", "equivalent_identifiers": ["HP:0020127", "UMLS:C5209226"], "information_content": 100.0}
{"id": "MONDO:0013968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PGM1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013968", "DOID:0080570", "OMIM:614921", "orphanet:319646", "UMLS:C2752015", "MESH:C567859", "SNOMEDCT:783717008", "medgen:414536"], "information_content": 100.0}
{"id": "HP:0031628", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aborted sudden cardiac death", "equivalent_identifiers": ["HP:0031628", "UMLS:C4703449"], "information_content": 100.0}
{"id": "HP:0200123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic hepatitis", "equivalent_identifiers": ["HP:0200123", "EFO:0008496", "NCIT:C82978", "UMLS:C0019189", "MEDDRA:10008909", "MEDDRA:10008915", "MEDDRA:10019758", "SNOMEDCT:76783007", "MESH:D006521"], "information_content": 76.9}
{"id": "MONDO:0019072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intrahepatic cholestasis", "equivalent_identifiers": ["MONDO:0019072", "DOID:1852", "UMLS:C0008372", "UMLS:C5139034", "MESH:D002780", "MEDDRA:10008638", "NCIT:C84400", "SNOMEDCT:235888006", "SNOMEDCT:4637005", "medgen:3042", "HP:0001406"], "information_content": 79.0}
{"id": "HP:0005305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral venous thrombosis", "equivalent_identifiers": ["HP:0005305", "NCIT:C132727", "UMLS:C0151945", "MEDDRA:10008138", "MEDDRA:10043621", "SNOMEDCT:95455008"], "information_content": 95.4}
{"id": "HP:0003160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal isoelectric focusing of serum transferrin", "equivalent_identifiers": ["HP:0003160", "UMLS:C2749688"], "information_content": 92.8}
{"id": "HP:0006568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased hepatic glycogen content", "equivalent_identifiers": ["HP:0006568", "UMLS:C1856285"], "information_content": 95.4}
{"id": "MONDO:0011305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cavernous malformation 3", "equivalent_identifiers": ["MONDO:0011305", "DOID:0060671", "OMIM:603285", "UMLS:C1864040", "MESH:C566393", "medgen:355121"], "information_content": 100.0}
{"id": "MONDO:0010563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blue cone monochromacy", "equivalent_identifiers": ["MONDO:0010563", "DOID:0050679", "OMIM:303700", "orphanet:16", "UMLS:C0339537", "MESH:C536238", "SNOMEDCT:24704003", "SNOMEDCT:789676005", "medgen:87386", "HP:0007939"], "information_content": 100.0}
{"id": "HP:0008002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of macular pigmentation", "equivalent_identifiers": ["HP:0008002", "UMLS:C1837087", "UMLS:C4024756", "MEDDRA:10091257"], "information_content": 84.8}
{"id": "MONDO:0013132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 36", "equivalent_identifiers": ["MONDO:0013132", "DOID:0110787", "OMIM:613096", "orphanet:320365", "UMLS:C2936879", "MESH:C567930", "SNOMEDCT:723819007", "medgen:422457"], "information_content": 100.0}
{"id": "HP:0011402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Demyelinating sensory neuropathy", "equivalent_identifiers": ["HP:0011402", "UMLS:C4023373"], "information_content": 100.0}
{"id": "HP:0007220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Demyelinating motor neuropathy", "equivalent_identifiers": ["HP:0007220", "UMLS:C1969462"], "information_content": 100.0}
{"id": "MONDO:0014157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibular hypoplasia-deafness-progeroid syndrome", "equivalent_identifiers": ["MONDO:0014157", "OMIM:615381", "orphanet:363649", "UMLS:C3715192", "medgen:811623"], "information_content": 100.0}
{"id": "HP:0000320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bird-like facies", "equivalent_identifiers": ["HP:0000320", "UMLS:C1837758"], "information_content": 100.0}
{"id": "HP:0100585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Telangiectasia of the skin", "equivalent_identifiers": ["HP:0100585", "UMLS:C4022018", "SNOMEDCT:1197432002"], "information_content": 83.1}
{"id": "HP:0100679", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stretched skin", "equivalent_identifiers": ["HP:0100679", "UMLS:C0558242", "UMLS:C4021998", "SNOMEDCT:297957009"], "information_content": 95.4}
{"id": "HP:0003635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of subcutaneous adipose tissue in limbs", "equivalent_identifiers": ["HP:0003635", "UMLS:C1837764"], "information_content": 92.8}
{"id": "MONDO:0009421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadism, male", "equivalent_identifiers": ["MONDO:0009421", "OMIM:241100", "UMLS:C0151721", "UMLS:C2673479", "MESH:C567108", "MEDDRA:10015532", "MEDDRA:10021011", "MEDDRA:10043315", "MEDDRA:10043316", "MEDDRA:10043335", "NCIT:C131080", "SNOMEDCT:48723006", "medgen:57480", "HP:0000026"], "information_content": 90.9}
{"id": "MONDO:0011519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 23", "equivalent_identifiers": ["MONDO:0011519", "DOID:0110553", "OMIM:605192", "UMLS:C1854594", "MESH:C565357", "medgen:343162"], "information_content": 100.0}
{"id": "MONDO:0007045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis, Catania type", "equivalent_identifiers": ["MONDO:0007045", "DOID:0060384", "OMIM:101805", "orphanet:1786", "UMLS:C2931762", "MESH:C538182", "SNOMEDCT:720419000", "medgen:419487", "icd11.foundation:750680130"], "information_content": 100.0}
{"id": "MONDO:0014736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2Z", "equivalent_identifiers": ["MONDO:0014736", "DOID:0110181", "OMIM:616688", "orphanet:466768", "UMLS:C5569025", "SNOMEDCT:1187564009", "medgen:1800448"], "information_content": 100.0}
{"id": "HP:0002411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myokymia", "equivalent_identifiers": ["HP:0002411", "NCIT:C84911", "UMLS:C0684219", "MEDDRA:10028632", "MEDDRA:10076057", "SNOMEDCT:27678003", "MESH:D020385"], "information_content": 90.9}
{"id": "HP:0006858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired distal proprioception", "equivalent_identifiers": ["HP:0006858", "UMLS:C4021585"], "information_content": 100.0}
{"id": "HP:0007078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased amplitude of sensory action potentials", "equivalent_identifiers": ["HP:0007078", "UMLS:C4024943"], "information_content": 95.4}
{"id": "HP:0003438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent Achilles reflex", "equivalent_identifiers": ["HP:0003438", "UMLS:C0558845", "MEDDRA:10000333", "MEDDRA:10000334", "SNOMEDCT:274818004"], "information_content": 100.0}
{"id": "MONDO:0060527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maleylacetoacetate isomerase deficiency", "equivalent_identifiers": ["MONDO:0060527", "OMIM:617596", "UMLS:C1291607", "SNOMEDCT:124664006", "medgen:713903"], "information_content": 100.0}
{"id": "MONDO:0011908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile myelomonocytic leukemia", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0011908", "DOID:0050458", "OMIM:607785", "orphanet:86834", "EFO:1000309", "UMLS:C0349639", "MESH:D054429", "MEDDRA:10023248", "MEDDRA:10023249", "MEDDRA:10054439", "MEDDRA:10060498", "NCIT:C9233", "SNOMEDCT:128832006", "SNOMEDCT:277587001", "SNOMEDCT:445227008", "medgen:138109", "icd11.foundation:1786015803", "ICD10:C93.3", "HP:0012209"], "information_content": 82.6}
{"id": "MONDO:0010615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated growth hormone deficiency type III", "equivalent_identifiers": ["MONDO:0010615", "DOID:0060875", "OMIM:307200", "orphanet:231692", "UMLS:C0472813", "MESH:C537149", "SNOMEDCT:234533006", "medgen:141630"], "information_content": 95.4}
{"id": "MONDO:0005280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostatitis", "equivalent_identifiers": ["MONDO:0005280", "DOID:14654", "EFO:0003830", "UMLS:C0033581", "MESH:D011472", "MEDDRA:10036978", "MEDDRA:10036982", "MEDDRA:10087880", "NCIT:C26866", "SNOMEDCT:9713002", "medgen:10965", "ICD10:N41.9", "ICD9:601.9", "HP:0000024"], "information_content": 85.5}
{"id": "HP:0003729", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enteroviral dermatomyositis syndrome", "equivalent_identifiers": ["HP:0003729", "UMLS:C3806660"], "information_content": 100.0}
{"id": "MONDO:0002922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyoderma", "equivalent_identifiers": ["MONDO:0002922", "DOID:4223", "UMLS:C0034212", "UMLS:C1305936", "MESH:D011711", "MEDDRA:10012486", "MEDDRA:10037632", "MEDDRA:10037633", "SNOMEDCT:70759006", "medgen:18783", "icd11.foundation:1991248382", "ICD10:L08.0", "ICD9:686.0", "HP:0000999"], "information_content": 83.1}
{"id": "MONDO:0021108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningitis", "equivalent_identifiers": ["MONDO:0021108", "UMLS:C0025289", "MESH:D008581", "MEDDRA:10027199", "MEDDRA:10027251", "MEDDRA:10027252", "NCIT:C26828", "SNOMEDCT:7180009", "medgen:6298", "HP:0001287"], "information_content": 77.6}
{"id": "HP:0030252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent circulating B cells", "equivalent_identifiers": ["HP:0030252", "UMLS:C4022558"], "information_content": 100.0}
{"id": "HP:0001412", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enteroviral hepatitis", "equivalent_identifiers": ["HP:0001412", "UMLS:C1843995"], "information_content": 100.0}
{"id": "HP:0002743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent enteroviral infections", "equivalent_identifiers": ["HP:0002743", "UMLS:C4025681"], "information_content": 95.4}
{"id": "HP:0003139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Panhypogammaglobulinemia", "equivalent_identifiers": ["HP:0003139", "UMLS:C1328587", "MEDDRA:10063189", "MEDDRA:10063192"], "information_content": 100.0}
{"id": "MONDO:0007732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Holt-Oram syndrome", "equivalent_identifiers": ["MONDO:0007732", "DOID:0060468", "OMIM:142900", "orphanet:392", "UMLS:C0265264", "MESH:C535326", "MEDDRA:10050469", "NCIT:C125592", "SNOMEDCT:19092004", "medgen:120524", "ICD10:Q87.2"], "information_content": 95.4}
{"id": "HP:0005773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short forearm", "equivalent_identifiers": ["HP:0005773", "UMLS:C4551978"], "information_content": 86.3}
{"id": "HP:0031546", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiac conduction abnormality", "equivalent_identifiers": ["HP:0031546"], "information_content": 78.8}
{"id": "HP:0010567", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Y-shaped metatarsals", "equivalent_identifiers": ["HP:0010567", "UMLS:C4023789"], "information_content": 100.0}
{"id": "HP:0009460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 3rd finger", "equivalent_identifiers": ["HP:0009460", "UMLS:C4024346"], "information_content": 90.9}
{"id": "HP:0000914", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shield chest", "equivalent_identifiers": ["HP:0000914", "UMLS:C1834124", "UMLS:C1839248"], "information_content": 100.0}
{"id": "HP:0009622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distally placed thumb", "equivalent_identifiers": ["HP:0009622", "UMLS:C4024270"], "information_content": 100.0}
{"id": "MONDO:0017461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated clinodactyly of fingers", "equivalent_identifiers": ["MONDO:0017461", "orphanet:295014", "UMLS:C0265610", "UMLS:C4280298", "UMLS:C4706540", "SNOMEDCT:1003620005", "SNOMEDCT:763691008", "medgen:120550", "HP:0040019"], "information_content": 87.2}
{"id": "HP:0001688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sinus bradycardia", "equivalent_identifiers": ["HP:0001688", "NCIT:C26923", "UMLS:C0085610", "MEDDRA:10006098", "MEDDRA:10040741", "SNOMEDCT:49710005"], "information_content": 100.0}
{"id": "HP:0004058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand monodactyly", "equivalent_identifiers": ["HP:0004058", "UMLS:C4025415"], "information_content": 100.0}
{"id": "HP:0005301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent left superior vena cava", "equivalent_identifiers": ["HP:0005301", "UMLS:C0265931", "MEDDRA:10064193", "SNOMEDCT:77978002", "MESH:D000083402"], "information_content": 87.2}
{"id": "HP:0010035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 1st metacarpal", "equivalent_identifiers": ["HP:0010035", "UMLS:C1838610"], "information_content": 100.0}
{"id": "HP:0100379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanx of the 4th toe", "equivalent_identifiers": ["HP:0100379", "UMLS:C4022113"], "information_content": 100.0}
{"id": "HP:0009577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short middle phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009577", "UMLS:C4021435"], "information_content": 100.0}
{"id": "HP:0010704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-2 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0010704", "UMLS:C4023732"], "information_content": 90.9}
{"id": "HP:0100398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of the distal phalanx of the 3rd toe", "equivalent_identifiers": ["HP:0100398", "UMLS:C4020999"], "information_content": 92.8}
{"id": "HP:0011636", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal coronary artery origin", "equivalent_identifiers": ["HP:0011636", "UMLS:C4023253"], "information_content": 82.6}
{"id": "MONDO:0020438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal aneurysm", "equivalent_identifiers": ["MONDO:0020438", "orphanet:99107", "UMLS:C0521533", "UMLS:C4476553", "SNOMEDCT:95440004", "medgen:1384602", "HP:0011995"], "information_content": 100.0}
{"id": "HP:0031297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unroofed coronary sinus", "equivalent_identifiers": ["HP:0031297", "UMLS:C4551626"], "information_content": 100.0}
{"id": "HP:0030241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of deltoid muscle", "equivalent_identifiers": ["HP:0030241", "UMLS:C1868170"], "information_content": 100.0}
{"id": "MONDO:0007001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricuspid valve prolapse", "equivalent_identifiers": ["MONDO:0007001", "DOID:5644", "EFO:1001218", "UMLS:C0040962", "MESH:D014263", "MEDDRA:10066862", "SNOMEDCT:253383003", "medgen:11912", "icd11.foundation:973833808", "HP:0001704"], "information_content": 100.0}
{"id": "HP:0004762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of right ventricle", "equivalent_identifiers": ["HP:0004762", "UMLS:C4082954"], "information_content": 95.4}
{"id": "HP:0010487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small hypothenar eminence", "equivalent_identifiers": ["HP:0010487", "UMLS:C1861395"], "information_content": 100.0}
{"id": "HP:0006394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited pronation/supination of forearm", "equivalent_identifiers": ["HP:0006394", "UMLS:C1861331"], "information_content": 100.0}
{"id": "HP:0006156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviation of thumb", "equivalent_identifiers": ["HP:0006156", "UMLS:C0575904", "UMLS:C4280465", "SNOMEDCT:299137000"], "information_content": 100.0}
{"id": "HP:0003042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elbow dislocation", "equivalent_identifiers": ["HP:0003042", "UMLS:C1403299", "UMLS:C1403321", "UMLS:C2720437", "MEDDRA:10013146", "MEDDRA:10013167", "MEDDRA:10013168", "MEDDRA:10014342", "SNOMEDCT:125617002", "SNOMEDCT:417558002"], "information_content": 83.6}
{"id": "MONDO:0020436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect, sinus venosus type", "equivalent_identifiers": ["MONDO:0020436", "orphanet:99105", "UMLS:C0344730", "MESH:C548009", "SNOMEDCT:95268002", "medgen:138011", "icd11.foundation:1930019148", "HP:0011567"], "information_content": 100.0}
{"id": "HP:0009535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 2nd finger", "equivalent_identifiers": ["HP:0009535", "UMLS:C4021453", "SNOMEDCT:1144455005"], "information_content": 90.9}
{"id": "HP:0009812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amelia involving the upper limbs", "equivalent_identifiers": ["HP:0009812", "UMLS:C4024200"], "information_content": 100.0}
{"id": "HP:0003834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder dislocation", "equivalent_identifiers": ["HP:0003834", "NCIT:C35020", "UMLS:C0037005", "MEDDRA:10013156", "MEDDRA:10013182", "MEDDRA:10040612", "SNOMEDCT:125615005", "SNOMEDCT:417076003", "MESH:D012783"], "information_content": 92.8}
{"id": "HP:0009813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb phocomelia", "equivalent_identifiers": ["HP:0009813", "NCIT:C35322", "UMLS:C0265573", "SNOMEDCT:253926000"], "information_content": 100.0}
{"id": "HP:0001233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-3 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0001233", "UMLS:C0432055", "SNOMEDCT:205139009"], "information_content": 89.4}
{"id": "HP:0001191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal carpal morphology", "equivalent_identifiers": ["HP:0001191", "UMLS:C1840535"], "information_content": 71.3}
{"id": "HP:0031134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cor triatriatum sinister", "equivalent_identifiers": ["HP:0031134", "UMLS:C4476993"], "information_content": 100.0}
{"id": "HP:0011664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left ventricular noncompaction cardiomyopathy", "equivalent_identifiers": ["HP:0011664", "UMLS:C4021133", "MEDDRA:10084944"], "information_content": 100.0}
{"id": "HP:0009751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the pectoralis major muscle", "equivalent_identifiers": ["HP:0009751", "UMLS:C4024213", "SNOMEDCT:1144582000"], "information_content": 100.0}
{"id": "MONDO:0007612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jones syndrome", "equivalent_identifiers": ["MONDO:0007612", "OMIM:135550", "orphanet:2027", "UMLS:C1851112", "MESH:C535886", "SNOMEDCT:722449007", "medgen:341928"], "information_content": 100.0}
{"id": "MONDO:0010545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nance-Horan syndrome", "equivalent_identifiers": ["MONDO:0010545", "DOID:0060599", "OMIM:302350", "orphanet:627", "UMLS:C0796085", "MESH:C538336", "SNOMEDCT:445257004", "medgen:208665", "icd11.foundation:938299000"], "information_content": 100.0}
{"id": "HP:0008031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior Y-sutural cataract", "equivalent_identifiers": ["HP:0008031", "UMLS:C4021560"], "information_content": 100.0}
{"id": "HP:0006332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supernumerary maxillary incisor", "equivalent_identifiers": ["HP:0006332", "UMLS:C4025062"], "information_content": 100.0}
{"id": "HP:0006346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Screwdriver-shaped incisors", "equivalent_identifiers": ["HP:0006346", "UMLS:C4025058"], "information_content": 100.0}
{"id": "HP:0011092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mulberry molar", "equivalent_identifiers": ["HP:0011092", "UMLS:C0266024", "UMLS:C5539407", "UMLS:C5550993", "MEDDRA:10088211", "SNOMEDCT:109436001", "SNOMEDCT:1177081002"], "information_content": 100.0}
{"id": "MONDO:0030020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 44", "equivalent_identifiers": ["MONDO:0030020", "DOID:0070424", "OMIM:618855", "UMLS:C5394293", "medgen:1718899"], "information_content": 100.0}
{"id": "HP:0012751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal basal ganglia MRI signal intensity", "equivalent_identifiers": ["HP:0012751", "UMLS:C4022745"], "information_content": 89.4}
{"id": "MONDO:0030465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 49", "equivalent_identifiers": ["MONDO:0030465", "OMIM:619593", "UMLS:C5562010", "medgen:1794220"], "information_content": 100.0}
{"id": "HP:0010924", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior cortical cataract", "equivalent_identifiers": ["HP:0010924", "UMLS:C4023650"], "information_content": 95.4}
{"id": "MONDO:0957870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with vanishing white matter 2", "equivalent_identifiers": ["MONDO:0957870", "DOID:0070373", "OMIM:620312", "UMLS:C5830404", "medgen:1841040"], "information_content": 100.0}
{"id": "MONDO:0018820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0018820", "DOID:0081386", "OMIM:616878", "orphanet:480864", "UMLS:C5567524", "SNOMEDCT:1172698005", "medgen:1798947"], "information_content": 100.0}
{"id": "HP:6000476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating tetradecenoylcarnitine concentration", "equivalent_identifiers": ["HP:6000476", "UMLS:C5937244"], "information_content": 100.0}
{"id": "HP:0012544", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating aldolase concentration", "equivalent_identifiers": ["HP:0012544", "UMLS:C4022858"], "information_content": 100.0}
{"id": "HP:0045045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating acylcarnitine concentration", "equivalent_identifiers": ["HP:0045045", "UMLS:C4073171"], "information_content": 75.7}
{"id": "HP:0012411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature pubarche", "equivalent_identifiers": ["HP:0012411", "UMLS:C0342541", "MEDDRA:10058089", "SNOMEDCT:237815000"], "information_content": 100.0}
{"id": "HP:0010314", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature thelarche", "equivalent_identifiers": ["HP:0010314", "NCIT:C113342", "UMLS:C0425772", "MEDDRA:10036612", "SNOMEDCT:102889008"], "information_content": 100.0}
{"id": "HP:0006801", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperactive deep tendon reflexes", "equivalent_identifiers": ["HP:0006801", "UMLS:C1846176"], "information_content": 100.0}
{"id": "HP:0200136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral-pharyngeal dysphagia", "equivalent_identifiers": ["HP:0200136", "NCIT:C113588", "UMLS:C0267071", "MEDDRA:10075766", "SNOMEDCT:71457002"], "information_content": 100.0}
{"id": "HP:0008942", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute rhabdomyolysis", "equivalent_identifiers": ["HP:0008942", "UMLS:C3807306"], "information_content": 100.0}
{"id": "MONDO:0008874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bangstad syndrome", "equivalent_identifiers": ["MONDO:0008874", "OMIM:210740", "orphanet:1227", "UMLS:C0342284", "MESH:C537902", "SNOMEDCT:237614004", "medgen:90978"], "information_content": 100.0}
{"id": "HP:0008193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primary gonadal insufficiency", "equivalent_identifiers": ["HP:0008193", "UMLS:C1859014"], "information_content": 100.0}
{"id": "MONDO:0958195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngeal muscular dystrophy 2", "equivalent_identifiers": ["MONDO:0958195", "OMIM:620460", "UMLS:C5830682", "medgen:1841318"], "information_content": 100.0}
{"id": "HP:0003327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axial muscle weakness", "equivalent_identifiers": ["HP:0003327", "UMLS:C1843697"], "information_content": 100.0}
{"id": "HP:0025406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asthenia", "equivalent_identifiers": ["HP:0025406", "EFO:0007625", "NCIT:C28132", "NCIT:C50556", "NCIT:C50809", "NCIT:C93084", "UMLS:C0004093", "UMLS:C0277794", "UMLS:C3714552", "MEDDRA:10003549", "MEDDRA:10011942", "MEDDRA:10011944", "MEDDRA:10016373", "MEDDRA:10018063", "MEDDRA:10036985", "MEDDRA:10042174", "MEDDRA:10047862", "MEDDRA:10047864", "MEDDRA:10047865", "SNOMEDCT:13791008", "SNOMEDCT:84946008", "MESH:D001247"], "information_content": 100.0}
{"id": "MONDO:0030010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 25 with anosmia", "equivalent_identifiers": ["MONDO:0030010", "OMIM:618841", "UMLS:C5394246", "medgen:1717461"], "information_content": 100.0}
{"id": "HP:0003164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypothalamic gonadotropin-releasing hormone deficiency", "equivalent_identifiers": ["HP:0003164", "UMLS:C4025644"], "information_content": 100.0}
{"id": "HP:0008724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the ovary", "equivalent_identifiers": ["HP:0008724", "UMLS:C0685840", "UMLS:C1835452", "SNOMEDCT:93279005"], "information_content": 92.8}
{"id": "MONDO:0975875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 10, autosomal recessive", "equivalent_identifiers": ["MONDO:0975875", "OMIM:621018", "UMLS:C5975532"], "information_content": 100.0}
{"id": "HP:0031627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Globus pallidus calcification", "equivalent_identifiers": ["HP:0031627", "UMLS:C4703448"], "information_content": 100.0}
{"id": "HP:0003165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating parathyroid hormone level", "equivalent_identifiers": ["HP:0003165", "UMLS:C0857973", "MEDDRA:10040363"], "information_content": 100.0}
{"id": "HP:0012229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CSF pleocytosis", "equivalent_identifiers": ["HP:0012229", "NCIT:C113756", "UMLS:C0151857", "MEDDRA:10035551", "SNOMEDCT:91454002"], "information_content": 89.4}
{"id": "HP:0007352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar calcifications", "equivalent_identifiers": ["HP:0007352", "UMLS:C1851431", "MEDDRA:10081238"], "information_content": 95.4}
{"id": "HP:0100529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood phosphate concentration", "equivalent_identifiers": ["HP:0100529", "UMLS:C4022032"], "information_content": 74.5}
{"id": "HP:0002401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stroke-like episode", "equivalent_identifiers": ["HP:0002401", "UMLS:C1857287"], "information_content": 100.0}
{"id": "MONDO:0032874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 43", "equivalent_identifiers": ["MONDO:0032874", "DOID:0111856", "OMIM:618699", "UMLS:C5231466", "medgen:1684675"], "information_content": 100.0}
{"id": "MONDO:0957211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration and seizures due to copper transport defect", "equivalent_identifiers": ["MONDO:0957211", "OMIM:620306", "UMLS:C5830385", "medgen:1841021"], "information_content": 100.0}
{"id": "HP:0010836", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating copper concentration", "equivalent_identifiers": ["HP:0010836", "UMLS:C4020766", "UMLS:C4023689"], "information_content": 90.9}
{"id": "HP:0000474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened nuchal skin fold", "equivalent_identifiers": ["HP:0000474", "UMLS:C1836940"], "information_content": 100.0}
{"id": "HP:0034823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF copper concentration", "equivalent_identifiers": ["HP:0034823", "UMLS:C5826684"], "information_content": 100.0}
{"id": "HP:0000807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glanular hypospadias", "equivalent_identifiers": ["HP:0000807", "UMLS:C0452168", "SNOMEDCT:204891000", "SNOMEDCT:429631000124104"], "information_content": 100.0}
{"id": "HP:0033144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating ceruloplasmin concentration", "equivalent_identifiers": ["HP:0033144", "UMLS:C5421638"], "information_content": 92.8}
{"id": "MONDO:0014144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type R18", "equivalent_identifiers": ["MONDO:0014144", "DOID:0110287", "OMIM:615356", "orphanet:369840", "UMLS:C4517996", "SNOMEDCT:732929002", "medgen:1385598"], "information_content": 100.0}
{"id": "MONDO:0009305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulocytopenia with immunoglobulin abnormality", "equivalent_identifiers": ["MONDO:0009305", "DOID:0111974", "OMIM:233600", "UMLS:C1856263", "MESH:C565535", "medgen:383874"], "information_content": 100.0}
{"id": "HP:0000460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow nose", "equivalent_identifiers": ["HP:0000460", "UMLS:C0426422", "SNOMEDCT:249322008"], "information_content": 100.0}
{"id": "MONDO:0006559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acne inversa", "equivalent_identifiers": ["MONDO:0006559", "DOID:2280", "EFO:1000710", "UMLS:C0162836", "MESH:D017497", "MEDDRA:10020041", "MEDDRA:10076650", "MEDDRA:10085165", "NCIT:C128429", "SNOMEDCT:59393003", "medgen:57993", "icd11.foundation:1621794154", "ICD10:L73.2", "HP:0040154"], "information_content": 89.4}
{"id": "HP:0410300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine", "equivalent_identifiers": ["HP:0410300", "UMLS:C5139463"], "information_content": 100.0}
{"id": "MONDO:0043494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteritis", "equivalent_identifiers": ["MONDO:0043494", "EFO:0009011", "UMLS:C0003860", "MESH:D001167", "MEDDRA:10003230", "MEDDRA:10003233", "MEDDRA:10003235", "MEDDRA:10021970", "MEDDRA:10021971", "NCIT:C34399", "SNOMEDCT:52089001", "medgen:13916", "HP:0012089"], "information_content": 82.1}
{"id": "HP:0000300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oval face", "equivalent_identifiers": ["HP:0000300", "UMLS:C1849025"], "information_content": 100.0}
{"id": "MONDO:0032864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with speech delay, autism, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0032864", "OMIM:618672", "EFO:0010653", "UMLS:C5231456", "medgen:1684848"], "information_content": 100.0}
{"id": "HP:0007074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick corpus callosum", "equivalent_identifiers": ["HP:0007074", "UMLS:C1835194"], "information_content": 100.0}
{"id": "HP:0000269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent occiput", "equivalent_identifiers": ["HP:0000269", "UMLS:C1853737", "UMLS:C4280652"], "information_content": 100.0}
{"id": "MONDO:0014815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 52", "equivalent_identifiers": ["MONDO:0014815", "DOID:0081215", "OMIM:616887", "UMLS:C4225168", "medgen:903181"], "information_content": 100.0}
{"id": "MONDO:0014505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 27", "equivalent_identifiers": ["MONDO:0014505", "DOID:0080444", "OMIM:616139", "UMLS:C4015316", "medgen:863753"], "information_content": 100.0}
{"id": "HP:0040196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild microcephaly", "equivalent_identifiers": ["HP:0040196", "UMLS:C1836806"], "information_content": 100.0}
{"id": "MONDO:0020854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liddle syndrome 2", "equivalent_identifiers": ["MONDO:0020854", "OMIM:618114", "UMLS:C4748251", "medgen:1648476"], "information_content": 100.0}
{"id": "HP:0003351", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating renin concentration", "equivalent_identifiers": ["HP:0003351", "UMLS:C1845206"], "information_content": 83.6}
{"id": "MONDO:0009376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carbamoyl phosphate synthetase I deficiency disease", "equivalent_identifiers": ["MONDO:0009376", "DOID:9280", "OMIM:237300", "orphanet:147", "EFO:0007193", "UMLS:C0751753", "UMLS:C4082171", "MESH:D020165", "MEDDRA:10058297", "MEDDRA:10071106", "NCIT:C84612", "SNOMEDCT:62522004", "SNOMEDCT:765329008", "medgen:907954", "icd11.foundation:327894003"], "information_content": 100.0}
{"id": "HP:0001951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic ammonia intoxication", "equivalent_identifiers": ["HP:0001951", "UMLS:C1839541"], "information_content": 100.0}
{"id": "MONDO:0013100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 8", "equivalent_identifiers": ["MONDO:0013100", "OMIM:613055", "UMLS:C2751607", "MESH:C567802", "medgen:414420"], "information_content": 100.0}
{"id": "MONDO:0008383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rheumatoid arthritis", "equivalent_identifiers": ["MONDO:0008383", "DOID:7148", "OMIM:180300", "EFO:0000685", "UMLS:C0003873", "UMLS:C1306838", "UMLS:C1833448", "MESH:D001172", "MEDDRA:10003268", "MEDDRA:10036856", "MEDDRA:10039073", "MEDDRA:10042952", "NCIT:C2884", "SNOMEDCT:69896004", "medgen:2078", "icd11.foundation:576319925", "ICD10:M06.9", "ICD9:714.0", "KEGG.DISEASE:05323", "HP:0001370"], "information_content": 77.6}
{"id": "HP:0001386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joint swelling", "equivalent_identifiers": ["HP:0001386", "NCIT:C50627", "UMLS:C0152031", "MEDDRA:10023232", "MEDDRA:10042721", "MEDDRA:10042722", "SNOMEDCT:271771009"], "information_content": 95.4}
{"id": "MONDO:0024280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyarthritis", "equivalent_identifiers": ["MONDO:0024280", "UMLS:C0162323", "UMLS:C1692871", "UMLS:C1692872", "MEDDRA:10021994", "MEDDRA:10036030", "MEDDRA:10045965", "MEDDRA:10087937", "NCIT:C197299", "NCIT:C26996", "SNOMEDCT:416956002", "SNOMEDCT:417373000", "medgen:56408", "HP:0005764"], "information_content": 92.8}
{"id": "MONDO:0008600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigger thumb", "equivalent_identifiers": ["MONDO:0008600", "OMIM:190410", "EFO:0010822", "UMLS:C0158328", "UMLS:C0410060", "UMLS:C4022974", "MESH:D052582", "MEDDRA:10044654", "MEDDRA:10044656", "NCIT:C85203", "SNOMEDCT:42786005", "medgen:98044", "HP:0012276"], "information_content": 100.0}
{"id": "HP:0033034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-citrullinated protein antibody positivity", "equivalent_identifiers": ["HP:0033034", "UMLS:C5421563"], "information_content": 100.0}
{"id": "HP:0006252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interphalangeal joint erosions", "equivalent_identifiers": ["HP:0006252", "UMLS:C1850158"], "information_content": 100.0}
{"id": "MONDO:0011577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, proximal, and ophthalmoplegia", "equivalent_identifiers": ["MONDO:0011577", "DOID:0080719", "OMIM:605637", "UMLS:C1854106", "MESH:C565311", "medgen:381340"], "information_content": 92.8}
{"id": "MONDO:0007082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia areata 1", "equivalent_identifiers": ["MONDO:0007082", "OMIM:104000", "UMLS:C1863094", "MESH:C566303", "medgen:400208"], "information_content": 100.0}
{"id": "MONDO:0019080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia totalis", "equivalent_identifiers": ["MONDO:0019080", "orphanet:700", "UMLS:C0263504", "MEDDRA:10001766", "SNOMEDCT:19754005", "medgen:75525", "icd11.foundation:1633035058", "HP:0007418"], "information_content": 92.8}
{"id": "HP:0030804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trachyonychia", "equivalent_identifiers": ["HP:0030804", "UMLS:C0546956", "MEDDRA:10082641", "SNOMEDCT:69192004"], "information_content": 100.0}
{"id": "MONDO:0014179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3", "equivalent_identifiers": ["MONDO:0014179", "DOID:0111386", "OMIM:615424", "UMLS:C3809469", "medgen:815799"], "information_content": 100.0}
{"id": "HP:0003738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced myalgia", "equivalent_identifiers": ["HP:0003738", "UMLS:C1850830"], "information_content": 100.0}
{"id": "MONDO:0010198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wernicke-Korsakoff syndrome", "equivalent_identifiers": ["MONDO:0010198", "DOID:10915", "OMIM:277730", "EFO:1001242", "UMLS:C0349464", "UMLS:C1622892", "UMLS:C2931917", "UMLS:C2931918", "MESH:C538669", "MESH:D020915", "MEDDRA:10023485", "MEDDRA:10047913", "MEDDRA:10070997", "MEDDRA:10070998", "MEDDRA:10085656", "NCIT:C35764", "NCIT:C84803", "SNOMEDCT:192811002", "SNOMEDCT:69482004", "medgen:83883", "icd11.foundation:2017611840"], "information_content": 95.4}
{"id": "MONDO:0020748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sitosterolemia 2", "equivalent_identifiers": ["MONDO:0020748", "DOID:0060983", "OMIM:618666", "UMLS:C5231453", "medgen:1684715"], "information_content": 100.0}
{"id": "HP:0003124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypercholesterolemia", "equivalent_identifiers": ["HP:0003124", "NCIT:C37967", "UMLS:C0020443", "UMLS:C0595929", "UMLS:C1522133", "MEDDRA:10008661", "MEDDRA:10008663", "MEDDRA:10008666", "MEDDRA:10008667", "MEDDRA:10008671", "MEDDRA:10014476", "MEDDRA:10020049", "MEDDRA:10020602", "MEDDRA:10020603", "MEDDRA:10020604", "MEDDRA:10040190", "MEDDRA:10060375", "SNOMEDCT:13644009", "SNOMEDCT:166830008", "MESH:D006937"], "information_content": 82.6}
{"id": "HP:0033341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating sitosterol concentration", "equivalent_identifiers": ["HP:0033341", "UMLS:C5539528"], "information_content": 100.0}
{"id": "HP:0010874", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tendon xanthomatosis", "equivalent_identifiers": ["HP:0010874", "UMLS:C0221253", "MEDDRA:10043235", "MEDDRA:10043254", "SNOMEDCT:69880002"], "information_content": 100.0}
{"id": "MONDO:0014818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 13", "equivalent_identifiers": ["MONDO:0014818", "DOID:0080381", "OMIM:616893", "UMLS:C4225165", "medgen:900240"], "information_content": 100.0}
{"id": "MONDO:0014134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension, primary, 2", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0014134", "OMIM:615342", "UMLS:C3888002", "medgen:854709"], "information_content": 100.0}
{"id": "MONDO:0010802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "equivalent_identifiers": ["MONDO:0010802", "DOID:0111733", "OMIM:600001", "orphanet:2255", "UMLS:C2931296", "MESH:C536714", "MESH:C564011", "SNOMEDCT:722206009", "medgen:444022"], "information_content": 100.0}
{"id": "HP:0031369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Colon perforation", "equivalent_identifiers": ["HP:0031369", "NCIT:C78242", "UMLS:C0347646", "MEDDRA:10009977", "MEDDRA:10010001", "MEDDRA:10034386", "MEDDRA:10034407", "MEDDRA:10034418", "SNOMEDCT:50257008"], "information_content": 100.0}
{"id": "MONDO:0018090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "double outlet left ventricle", "equivalent_identifiers": ["MONDO:0018090", "orphanet:3427", "UMLS:C0265809", "MEDDRA:10080133", "SNOMEDCT:7368005", "medgen:120558", "icd11.foundation:2094997989", "ICD10:Q20.2", "HP:0011581"], "information_content": 100.0}
{"id": "MONDO:0000153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transposition of the great arteries", "equivalent_identifiers": ["MONDO:0000153", "orphanet:216675", "UMLS:C0040761", "UMLS:C3536741", "MESH:D014188", "MEDDRA:10002880", "MEDDRA:10002881", "MEDDRA:10010143", "MEDDRA:10044440", "MEDDRA:10044442", "MEDDRA:10044443", "NCIT:C84742", "NCIT:C98914", "SNOMEDCT:204296002", "SNOMEDCT:26146002", "medgen:21245", "icd11.foundation:429190257", "HP:0001669"], "information_content": 86.3}
{"id": "HP:0011629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Total absence of the pericardium", "equivalent_identifiers": ["HP:0011629", "UMLS:C0345140", "SNOMEDCT:253732001"], "information_content": 95.4}
{"id": "MONDO:0007642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated agenesis of gallbladder", "equivalent_identifiers": ["MONDO:0007642", "OMIM:137040", "orphanet:440987", "UMLS:C0266251", "MESH:C562564", "MEDDRA:10079018", "SNOMEDCT:302953002", "SNOMEDCT:86507001", "medgen:82736", "HP:0011467"], "information_content": 95.4}
{"id": "HP:0011573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic tricuspid valve", "equivalent_identifiers": ["HP:0011573", "UMLS:C0265837", "UMLS:C4023294", "SNOMEDCT:43176009"], "information_content": 95.4}
{"id": "HP:0009112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the left hemidiaphragm", "equivalent_identifiers": ["HP:0009112", "UMLS:C4024593", "UMLS:C5194758"], "information_content": 100.0}
{"id": "MONDO:0008867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary atresia", "equivalent_identifiers": ["MONDO:0008867", "DOID:13608", "orphanet:30391", "UMLS:C0005411", "MESH:D001656", "MEDDRA:10003650", "MEDDRA:10004653", "MEDDRA:10004654", "NCIT:C34421", "SNOMEDCT:77480004", "medgen:14117", "icd11.foundation:645741117", "ICD10:Q44.2", "ICD9:751.61", "HP:0005912"], "information_content": 87.2}
{"id": "MONDO:0012442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 66", "equivalent_identifiers": ["MONDO:0012442", "DOID:0110517", "OMIM:610212", "UMLS:C1857750", "MESH:C565701", "medgen:346659"], "information_content": 100.0}
{"id": "MONDO:0007891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial generalized lentiginosis", "equivalent_identifiers": ["MONDO:0007891", "OMIM:151001", "orphanet:231040", "UMLS:C3492944", "UMLS:C4707357", "MESH:C573023", "SNOMEDCT:765195000", "medgen:486897"], "information_content": 100.0}
{"id": "MONDO:0008418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scleroderma, familial progressive", "equivalent_identifiers": ["MONDO:0008418", "OMIM:181750", "UMLS:C1866983", "medgen:356661"], "information_content": 100.0}
{"id": "MONDO:0002123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calcinosis", "equivalent_identifiers": ["MONDO:0002123", "DOID:182", "UMLS:C0006663", "MESH:D002114", "MEDDRA:10006938", "MEDDRA:10051103", "NCIT:C3672", "SNOMEDCT:6595006", "medgen:709", "icd11.foundation:1374802956", "HP:0003761"], "information_content": 60.3}
{"id": "HP:0003220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of chromosome stability", "equivalent_identifiers": ["HP:0003220", "UMLS:C1859424", "UMLS:C4551705"], "information_content": 88.2}
{"id": "MONDO:0016358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerodactyly", "equivalent_identifiers": ["MONDO:0016358", "DOID:1577", "orphanet:220402", "EFO:1001017", "UMLS:C0150988", "UMLS:C0748540", "UMLS:C5574860", "MESH:D045745", "MEDDRA:10000606", "NCIT:C197966", "SNOMEDCT:201051000", "SNOMEDCT:298285004", "SNOMEDCT:299276009", "medgen:148187", "ICD10:L94.3", "HP:0011838"], "information_content": 95.4}
{"id": "HP:0040012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chromosome breakage", "equivalent_identifiers": ["HP:0040012", "UMLS:C0376628", "MESH:D019457"], "information_content": 90.9}
{"id": "HP:0001438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal abdomen morphology", "equivalent_identifiers": ["HP:0001438", "UMLS:C4020869"], "information_content": 71.7}
{"id": "MONDO:0008244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "piebaldism", "equivalent_identifiers": ["MONDO:0008244", "DOID:3263", "OMIM:172800", "orphanet:2884", "UMLS:C0080024", "MESH:D016116", "MEDDRA:10084262", "NCIT:C85009", "SNOMEDCT:6479008", "SNOMEDCT:718122005", "medgen:36361", "icd11.foundation:2089421143", "ICD10:E70.39", "HP:0007544"], "information_content": 100.0}
{"id": "HP:0007542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent pigmentation of the ventral chest", "equivalent_identifiers": ["HP:0007542", "UMLS:C4024848"], "information_content": 100.0}
{"id": "MONDO:0013557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 5", "equivalent_identifiers": ["MONDO:0013557", "DOID:0060543", "OMIM:614074", "UMLS:C3888004", "medgen:854711"], "information_content": 100.0}
{"id": "HP:0100608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metrorrhagia", "equivalent_identifiers": ["HP:0100608", "NCIT:C34818", "UMLS:C0025874", "MEDDRA:10005120", "MEDDRA:10013908", "MEDDRA:10022559", "MEDDRA:10027514", "MEDDRA:10041744", "MEDDRA:10072703", "MEDDRA:10072704", "SNOMEDCT:19155002", "SNOMEDCT:237130006", "SNOMEDCT:64996003", "MESH:D008796"], "information_content": 68.9}
{"id": "MONDO:0010125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "upper limb defect-eye and ear abnormalities syndrome", "equivalent_identifiers": ["MONDO:0010125", "OMIM:274205", "orphanet:2489", "UMLS:C1848816", "MESH:C564769", "medgen:376448"], "information_content": 100.0}
{"id": "HP:0009738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal antihelix morphology", "equivalent_identifiers": ["HP:0009738", "UMLS:C4021395"], "information_content": 80.6}
{"id": "MONDO:0014496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 9", "equivalent_identifiers": ["MONDO:0014496", "DOID:0080118", "OMIM:616111", "UMLS:C4015253", "medgen:863690"], "information_content": 100.0}
{"id": "HP:0007109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periventricular cysts", "equivalent_identifiers": ["HP:0007109", "UMLS:C1839858"], "information_content": 95.4}
{"id": "MONDO:0013866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 11", "equivalent_identifiers": ["MONDO:0013866", "DOID:0110732", "OMIM:614706", "orphanet:314629", "UMLS:C3539123", "NCIT:C188214", "medgen:761331"], "information_content": 100.0}
{"id": "HP:6001187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating progranulin concentration", "equivalent_identifiers": ["HP:6001187"], "information_content": 100.0}
{"id": "MONDO:0007584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exostoses-anetodermia-brachydactyly type E syndrome", "equivalent_identifiers": ["MONDO:0007584", "OMIM:133690", "orphanet:1962", "UMLS:C1851428", "MESH:C565034", "medgen:338695"], "information_content": 100.0}
{"id": "MONDO:0007223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type E1", "equivalent_identifiers": ["MONDO:0007223", "DOID:0110972", "OMIM:113300", "UMLS:C1862102", "MESH:C566194", "medgen:396291", "HP:0005863"], "information_content": 100.0}
{"id": "MONDO:0014175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive", "equivalent_identifiers": ["MONDO:0014175", "DOID:0080335", "OMIM:615418", "UMLS:C3809443", "UMLS:C4321247", "NCIT:C129977", "medgen:815773"], "information_content": 100.0}
{"id": "HP:0002017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nausea and vomiting", "equivalent_identifiers": ["HP:0002017", "NCIT:C3259", "UMLS:C0027498", "MEDDRA:10028817", "SNOMEDCT:16932000"], "information_content": 66.9}
{"id": "MONDO:0009369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-immune hydrops fetalis", "equivalent_identifiers": ["MONDO:0009369", "OMIM:236750", "orphanet:363999", "UMLS:C0455988", "MEDDRA:10020528", "MEDDRA:10058189", "NCIT:C111905", "SNOMEDCT:206538000", "SNOMEDCT:276509008", "medgen:105327", "icd11.foundation:1182287637", "HP:0001790"], "information_content": 95.4}
{"id": "MONDO:0011421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1", "equivalent_identifiers": ["MONDO:0011421", "DOID:0050768", "OMIM:604273", "UMLS:C3276276", "medgen:477906"], "information_content": 100.0}
{"id": "HP:0011925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased activity of mitochondrial ATP synthase complex", "equivalent_identifiers": ["HP:0011925", "UMLS:C4020737", "UMLS:C4023125"], "information_content": 100.0}
{"id": "MONDO:0010370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 2", "equivalent_identifiers": ["MONDO:0010370", "DOID:0080506", "OMIM:300590", "UMLS:C1802395", "NCIT:C75485", "SNOMEDCT:55016009", "medgen:315658"], "information_content": 100.0}
{"id": "MONDO:0100157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Imerslund-Grasbeck syndrome type 2", "equivalent_identifiers": ["MONDO:0100157", "OMIM:618882", "UMLS:C4016948", "medgen:865385"], "information_content": 100.0}
{"id": "HP:0012594", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate albuminuria", "equivalent_identifiers": ["HP:0012594", "UMLS:C0730345", "UMLS:C1654921", "MEDDRA:10027525", "MEDDRA:10076047", "SNOMEDCT:312975006"], "information_content": 100.0}
{"id": "MONDO:0012342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "7q11.23 microduplication syndrome", "equivalent_identifiers": ["MONDO:0012342", "DOID:0080926", "OMIM:609757", "orphanet:96121", "UMLS:C1857844", "UMLS:C3149767", "UMLS:C4512054", "MESH:C565723", "NCIT:C165597", "SNOMEDCT:726707004", "medgen:347562"], "information_content": 95.4}
{"id": "MONDO:0012679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 6", "equivalent_identifiers": ["MONDO:0012679", "DOID:0110945", "OMIM:611497", "orphanet:210110", "UMLS:C1969093", "MESH:C566931", "medgen:409754"], "information_content": 100.0}
{"id": "MONDO:0017198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopetrosis", "equivalent_identifiers": ["MONDO:0017198", "DOID:13533", "orphanet:2781", "UMLS:C0029454", "MESH:D010022", "MEDDRA:10001556", "MEDDRA:10026821", "MEDDRA:10031280", "NCIT:C26840", "SNOMEDCT:1926006", "medgen:18223", "icd11.foundation:1498426606", "ICD9:756.52", "HP:0011002"], "information_content": 78.8}
{"id": "HP:0100959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dense metaphyseal bands", "equivalent_identifiers": ["HP:0100959", "UMLS:C4020919"], "information_content": 100.0}
{"id": "HP:0033701", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical sclerosis of the iliac wing", "equivalent_identifiers": ["HP:0033701", "UMLS:C5539766"], "information_content": 100.0}
{"id": "MONDO:0012588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 7", "equivalent_identifiers": ["MONDO:0012588", "DOID:0110722", "OMIM:610951", "orphanet:228366", "UMLS:C1838571", "MESH:C563989", "medgen:325457"], "information_content": 100.0}
{"id": "MONDO:0014358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014358", "DOID:0070055", "OMIM:615829", "orphanet:412069", "EFO:0009015", "UMLS:C4014419", "UMLS:C5436345", "NCIT:C192092", "SNOMEDCT:774068004", "medgen:862856"], "information_content": 100.0}
{"id": "HP:0005656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positional foot deformity", "equivalent_identifiers": ["HP:0005656", "UMLS:C4025161"], "information_content": 84.8}
{"id": "HP:0025267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Snoring", "equivalent_identifiers": ["HP:0025267", "NCIT:C116315", "UMLS:C0037384", "MEDDRA:10041234", "MEDDRA:10041235", "SNOMEDCT:72863001", "MESH:D012913"], "information_content": 95.4}
{"id": "HP:6000995", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcortical U fiber lesion", "equivalent_identifiers": ["HP:6000995", "UMLS:C5970337"], "information_content": 100.0}
{"id": "HP:0002416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subependymal cysts", "equivalent_identifiers": ["HP:0002416", "NCIT:C117315", "UMLS:C1833431", "MEDDRA:10088620"], "information_content": 100.0}
{"id": "HP:0000234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the head", "equivalent_identifiers": ["HP:0000234", "UMLS:C4021812"], "information_content": 42.3}
{"id": "HP:5201016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Submucous cleft palate", "equivalent_identifiers": ["HP:5201016", "UMLS:C4551487", "SNOMEDCT:763108005"], "information_content": 88.2}
{"id": "HP:0010674", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal curvature of the vertebral column", "equivalent_identifiers": ["HP:0010674", "UMLS:C4023747"], "information_content": 74.6}
{"id": "HP:0010821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal emotional seizure with laughing", "equivalent_identifiers": ["HP:0010821", "UMLS:C0270820", "MEDDRA:10082918", "SNOMEDCT:89525009"], "information_content": 92.8}
{"id": "MONDO:0015742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular leukomalacia", "equivalent_identifiers": ["MONDO:0015742", "DOID:13088", "EFO:1001101", "UMLS:C0023529", "MESH:D007969", "MEDDRA:10052594", "NCIT:C99013", "SNOMEDCT:230769007", "medgen:6072", "ICD10:P91.2", "ICD9:779.7", "HP:0006970"], "information_content": 95.4}
{"id": "HP:0031061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired toileting ability", "equivalent_identifiers": ["HP:0031061", "UMLS:C4476941"], "information_content": 100.0}
{"id": "HP:0005216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired mastication", "equivalent_identifiers": ["HP:0005216", "NCIT:C50492", "UMLS:C0239043", "MEDDRA:10067464", "SNOMEDCT:162020001"], "information_content": 100.0}
{"id": "HP:0001256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intellectual disability, mild", "equivalent_identifiers": ["HP:0001256", "UMLS:C0026106", "MEDDRA:10016314", "MEDDRA:10027618", "SNOMEDCT:86765009"], "information_content": 100.0}
{"id": "HP:0002342", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intellectual disability, moderate", "equivalent_identifiers": ["HP:0002342", "UMLS:C0026351", "MEDDRA:10021408", "MEDDRA:10027791", "SNOMEDCT:61152003"], "information_content": 100.0}
{"id": "MONDO:0017106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retrocerebellar cyst", "equivalent_identifiers": ["MONDO:0017106", "UMLS:C1845370", "medgen:335172", "HP:0006951"], "information_content": 100.0}
{"id": "HP:0025335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ability to stand", "equivalent_identifiers": ["HP:0025335", "UMLS:C4476709"], "information_content": 100.0}
{"id": "HP:0007112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporal cortical atrophy", "equivalent_identifiers": ["HP:0007112", "UMLS:C4024936"], "information_content": 92.8}
{"id": "HP:0007874", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Almond-shaped palpebral fissure", "equivalent_identifiers": ["HP:0007874", "UMLS:C4024780"], "information_content": 100.0}
{"id": "HP:0007754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular dystrophy", "equivalent_identifiers": ["HP:0007754", "UMLS:C0730292", "MEDDRA:10048866"], "information_content": 73.6}
{"id": "HP:0000385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small earlobe", "equivalent_identifiers": ["HP:0000385", "UMLS:C1842680"], "information_content": 95.4}
{"id": "HP:0011313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow nail", "equivalent_identifiers": ["HP:0011313", "UMLS:C4021829"], "information_content": 100.0}
{"id": "HP:0011318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bicoronal synostosis", "equivalent_identifiers": ["HP:0011318", "UMLS:C4021164"], "information_content": 100.0}
{"id": "HP:0010864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intellectual disability, severe", "equivalent_identifiers": ["HP:0010864", "UMLS:C0036857", "MEDDRA:10040443", "SNOMEDCT:40700009"], "information_content": 84.2}
{"id": "HP:0006913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal cortical atrophy", "equivalent_identifiers": ["HP:0006913", "UMLS:C4024965"], "information_content": 100.0}
{"id": "HP:0009909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uplifted earlobe", "equivalent_identifiers": ["HP:0009909", "UMLS:C1856117"], "information_content": 100.0}
{"id": "HP:0011396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the cochlear nerve", "equivalent_identifiers": ["HP:0011396", "UMLS:C4023377"], "information_content": 89.4}
{"id": "MONDO:0013208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome", "equivalent_identifiers": ["MONDO:0013208", "DOID:0080536", "OMIM:613280", "orphanet:309854", "UMLS:C2750442", "MESH:C548016", "SNOMEDCT:702377007", "medgen:412958"], "information_content": 100.0}
{"id": "HP:0025196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased total iron binding capacity", "equivalent_identifiers": ["HP:0025196", "UMLS:C0854060", "MEDDRA:10022964", "MEDDRA:10022965", "MEDDRA:10043825", "MEDDRA:10044092"], "information_content": 100.0}
{"id": "HP:0008282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unconjugated hyperbilirubinemia", "equivalent_identifiers": ["HP:0008282", "NCIT:C113785", "UMLS:C0268306", "MEDDRA:10075817", "MEDDRA:10075822", "SNOMEDCT:7752002"], "information_content": 100.0}
{"id": "HP:0032097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermanganesemia", "equivalent_identifiers": ["HP:0032097", "UMLS:C5139128"], "information_content": 100.0}
{"id": "OMIM:619975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TUMOR PREDISPOSITION SYNDROME 2", "equivalent_identifiers": ["OMIM:619975", "UMLS:C5774186"]}
{"id": "MONDO:0002546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schwannoma", "equivalent_identifiers": ["MONDO:0002546", "DOID:3192", "DOID:955", "orphanet:252164", "EFO:0000693", "UMLS:C0027809", "MESH:D009442", "MEDDRA:10029234", "MEDDRA:10029237", "MEDDRA:10039667", "NCIT:C3269", "SNOMEDCT:189948006", "SNOMEDCT:404022001", "SNOMEDCT:985004", "medgen:45053", "HP:0100008"], "information_content": 74.2}
{"id": "HP:0031919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile type ovarian granulosa cell tumor", "equivalent_identifiers": ["HP:0031919", "NCIT:C7289", "UMLS:C1855515"], "information_content": 95.4}
{"id": "MONDO:0005023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ductal breast carcinoma in situ", "equivalent_identifiers": ["MONDO:0005023", "DOID:0060074", "EFO:0000432", "UMLS:C0007124", "MESH:D002285", "MEDDRA:10007360", "MEDDRA:10013806", "NCIT:C2924", "SNOMEDCT:109889007", "SNOMEDCT:1162814007", "SNOMEDCT:278053004", "SNOMEDCT:373176000", "SNOMEDCT:86616005", "medgen:765", "HP:0030075"], "information_content": 81.3}
{"id": "MONDO:0010426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked endothelial corneal dystrophy", "equivalent_identifiers": ["MONDO:0010426", "DOID:0060446", "OMIM:300779", "orphanet:293621", "UMLS:C2749049", "MESH:C567587", "SNOMEDCT:718579008", "medgen:413518", "icd11.foundation:1842066261"], "information_content": 100.0}
{"id": "HP:0000585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Band keratopathy", "equivalent_identifiers": ["HP:0000585"], "information_content": 100.0}
{"id": "MONDO:0060611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "equivalent_identifiers": ["MONDO:0060611", "OMIM:617780", "orphanet:658813", "UMLS:C4540434", "medgen:1615364"], "information_content": 100.0}
{"id": "MONDO:0015974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency", "equivalent_identifiers": ["MONDO:0015974", "DOID:627", "orphanet:183660", "UMLS:C0085110", "MESH:D016511", "MEDDRA:10069566", "NCIT:C3472", "SNOMEDCT:31323000", "medgen:88328", "icd11.foundation:963193284", "HP:0004430"], "information_content": 73.8}
{"id": "MONDO:0008155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteomesopyknosis", "equivalent_identifiers": ["MONDO:0008155", "OMIM:166450", "orphanet:2777", "UMLS:C0432264", "MESH:C537792", "SNOMEDCT:254125009", "medgen:98482", "icd11.foundation:455371627"], "information_content": 100.0}
{"id": "MONDO:0859322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis", "equivalent_identifiers": ["MONDO:0859322", "OMIM:620138", "UMLS:C5774260", "medgen:1824033"], "information_content": 100.0}
{"id": "HP:0009073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive proximal muscle weakness", "equivalent_identifiers": ["HP:0009073", "UMLS:C1836156"], "information_content": 100.0}
{"id": "HP:0003710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced muscle cramps", "equivalent_identifiers": ["HP:0003710", "UMLS:C1855578"], "information_content": 95.4}
{"id": "HP:0008967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced muscle stiffness", "equivalent_identifiers": ["HP:0008967", "UMLS:C1855579"], "information_content": 100.0}
{"id": "MONDO:0008811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "XK aprosencephaly", "equivalent_identifiers": ["MONDO:0008811", "OMIM:207770", "orphanet:3469", "UMLS:C0795952", "MESH:C536767", "SNOMEDCT:1162839003", "SNOMEDCT:277921008", "medgen:167087", "icd11.foundation:1805259428"], "information_content": 100.0}
{"id": "MONDO:0035450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aprosencephaly", "equivalent_identifiers": ["MONDO:0035450", "orphanet:566857", "UMLS:C0431349", "NCIT:C98824", "SNOMEDCT:277922001", "medgen:140908", "icd11.foundation:1740361952", "HP:0007268"], "information_content": 100.0}
{"id": "MONDO:0009621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-cervical spine fusion anomalies syndrome", "equivalent_identifiers": ["MONDO:0009621", "OMIM:251250", "orphanet:2522", "UMLS:C0796066", "MESH:C537325", "SNOMEDCT:715462003", "medgen:208663"], "information_content": 100.0}
{"id": "HP:0005881", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal instability", "equivalent_identifiers": ["HP:0005881", "UMLS:C0410648", "MEDDRA:10076339", "SNOMEDCT:240220009"], "information_content": 95.4}
{"id": "MONDO:0007327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase", "equivalent_identifiers": ["MONDO:0007327", "DOID:0111419", "OMIM:118830", "UMLS:C1861560", "MESH:C566126", "medgen:348391"], "information_content": 100.0}
{"id": "HP:0100027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent pancreatitis", "equivalent_identifiers": ["HP:0100027", "UMLS:C4551632", "MEDDRA:10033657", "MEDDRA:10066715", "SNOMEDCT:233870001", "SNOMEDCT:234689009"], "information_content": 100.0}
{"id": "MONDO:0037748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipoproteinemia", "equivalent_identifiers": ["MONDO:0037748", "UMLS:C0020476", "MESH:D006951", "MEDDRA:10020668", "MEDDRA:10058221", "NCIT:C34709", "SNOMEDCT:3744001", "medgen:9363", "HP:0010980"], "information_content": 79.0}
{"id": "MONDO:0018163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cutis laxa type 2A", "equivalent_identifiers": ["MONDO:0018163", "DOID:0070134", "OMIM:219200", "orphanet:357058", "UMLS:C0268355", "SNOMEDCT:784381008", "medgen:82795"], "information_content": 95.4}
{"id": "HP:0010719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of hair texture", "equivalent_identifiers": ["HP:0010719", "UMLS:C4023722", "UMLS:C4072880", "UMLS:C4072881", "UMLS:C4073290"], "information_content": 77.6}
{"id": "HP:0001582", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Redundant skin", "equivalent_identifiers": ["HP:0001582", "UMLS:C0581342", "SNOMEDCT:201093004"], "information_content": 90.9}
{"id": "HP:0007392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excessive wrinkled skin", "equivalent_identifiers": ["HP:0007392", "UMLS:C4024890"], "information_content": 90.9}
{"id": "MONDO:0009690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 10", "equivalent_identifiers": ["MONDO:0009690", "DOID:0110668", "OMIM:254300", "UMLS:C0393946", "UMLS:C1836133", "UMLS:C1850792", "MESH:C536089", "MESH:C563716", "SNOMEDCT:230687001", "medgen:376880"], "information_content": 100.0}
{"id": "HP:0002792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced vital capacity", "equivalent_identifiers": ["HP:0002792", "UMLS:C0476408", "UMLS:C0520831", "MEDDRA:10047171", "MEDDRA:10047582", "SNOMEDCT:274715008", "SNOMEDCT:607007"], "information_content": 100.0}
{"id": "HP:0030208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-neuromuscular Junction acetylcholine receptor antibody positivity", "equivalent_identifiers": ["HP:0030208", "UMLS:C4022578"], "information_content": 100.0}
{"id": "HP:0012473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue atrophy", "equivalent_identifiers": ["HP:0012473", "UMLS:C0241423", "UMLS:C0426494", "MEDDRA:10055028", "SNOMEDCT:249382006", "SNOMEDCT:50805004"], "information_content": 100.0}
{"id": "MONDO:0030984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 75", "equivalent_identifiers": ["MONDO:0030984", "DOID:0070574", "OMIM:619949", "UMLS:C5677014", "medgen:1804291"], "information_content": 100.0}
{"id": "HP:0031039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spermatocyte maturation arrest", "equivalent_identifiers": ["HP:0031039", "UMLS:C4476925"], "information_content": 100.0}
{"id": "MONDO:0054791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 16", "equivalent_identifiers": ["MONDO:0054791", "DOID:0070405", "OMIM:617964", "UMLS:C4693779", "medgen:1631337"], "information_content": 100.0}
{"id": "HP:0001152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Saccadic smooth pursuit", "equivalent_identifiers": ["HP:0001152", "UMLS:C1836479"], "information_content": 92.8}
{"id": "MONDO:0008099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness autosomal dominant 2", "equivalent_identifiers": ["MONDO:0008099", "DOID:0110863", "OMIM:163500", "UMLS:C1876182", "MESH:C566869", "medgen:361814"], "information_content": 100.0}
{"id": "HP:0001098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fundus morphology", "equivalent_identifiers": ["HP:0001098", "UMLS:C4025804"], "information_content": 55.3}
{"id": "MONDO:0012099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AICA-ribosiduria", "equivalent_identifiers": ["MONDO:0012099", "OMIM:608688", "orphanet:250977", "UMLS:C1837530", "MESH:C563876", "SNOMEDCT:725289009", "medgen:332474"], "information_content": 100.0}
{"id": "HP:6000752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated erythrocyte AICA-ribotide concentration", "equivalent_identifiers": ["HP:6000752", "UMLS:C5937480"], "information_content": 100.0}
{"id": "HP:0034565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level", "equivalent_identifiers": ["HP:0034565", "UMLS:C5826483"], "information_content": 100.0}
{"id": "HP:0010781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin dimple", "equivalent_identifiers": ["HP:0010781", "UMLS:C0578531", "SNOMEDCT:301854006"], "information_content": 88.2}
{"id": "HP:0007875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital blindness", "equivalent_identifiers": ["HP:0007875", "UMLS:C0005754", "MEDDRA:10005176", "MEDDRA:10010383", "SNOMEDCT:95486002"], "information_content": 100.0}
{"id": "MONDO:0020721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked sideroblastic anemia 1", "equivalent_identifiers": ["MONDO:0020721", "DOID:0060063", "OMIM:300751", "orphanet:75563", "UMLS:C4551511", "MESH:C536761", "SNOMEDCT:48983004", "SNOMEDCT:62677000", "medgen:1638704"], "information_content": 100.0}
{"id": "MONDO:0000387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypochromic microcytic anemia", "equivalent_identifiers": ["MONDO:0000387", "DOID:0050642", "UMLS:C0271901", "MESH:C536357", "MEDDRA:10002083", "MEDDRA:10020972", "MEDDRA:10055199", "MEDDRA:10055212", "SNOMEDCT:44666001", "medgen:124413", "HP:0004840"], "information_content": 89.4}
{"id": "HP:0001017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anemic pallor", "equivalent_identifiers": ["HP:0001017", "UMLS:C4025811"], "information_content": 100.0}
{"id": "MONDO:0031084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta, IIa 1K", "equivalent_identifiers": ["MONDO:0031084", "DOID:0060945", "OMIM:620104", "UMLS:C5774246", "medgen:1824019"], "information_content": 100.0}
{"id": "MONDO:0012139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy, retinal, 3", "equivalent_identifiers": ["MONDO:0012139", "DOID:0070440", "OMIM:608850", "UMLS:C3888009", "medgen:854716"], "information_content": 100.0}
{"id": "HP:0030666", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal neovascularization", "equivalent_identifiers": ["HP:0030666", "UMLS:C0035320", "MEDDRA:10038884", "MEDDRA:10055666", "SNOMEDCT:61267008", "MESH:D015861"], "information_content": 92.8}
{"id": "HP:0030499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular drusen", "equivalent_identifiers": ["HP:0030499", "UMLS:C0677628", "UMLS:C4476843", "MEDDRA:10054967", "SNOMEDCT:247154004"], "information_content": 100.0}
{"id": "HP:0030631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperautofluorescent macular lesion", "equivalent_identifiers": ["HP:0030631", "UMLS:C4073101"], "information_content": 100.0}
{"id": "MONDO:0030748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 3A, intermediate", "equivalent_identifiers": ["MONDO:0030748", "OMIM:619785", "UMLS:C5676938", "medgen:1812940"], "information_content": 100.0}
{"id": "MONDO:0010515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meester-Loeys syndrome", "equivalent_identifiers": ["MONDO:0010515", "DOID:0111861", "OMIM:300989", "UMLS:C4310811", "NCIT:C187989", "medgen:934778"], "information_content": 100.0}
{"id": "HP:0001373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dislocation", "equivalent_identifiers": ["HP:0001373", "NCIT:C26750", "NCIT:C35724", "UMLS:C0012691", "MEDDRA:10013150", "MEDDRA:10013160", "MEDDRA:10023204", "MEDDRA:10023210", "SNOMEDCT:108367008", "SNOMEDCT:87642003", "MESH:D004204"], "information_content": 74.5}
{"id": "HP:0010646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical spine instability", "equivalent_identifiers": ["HP:0010646", "UMLS:C0410652", "SNOMEDCT:202821008"], "information_content": 100.0}
{"id": "HP:0002647", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortic dissection", "equivalent_identifiers": ["HP:0002647", "NCIT:C50461", "UMLS:C0340643", "MEDDRA:10002895", "MEDDRA:10013427", "SNOMEDCT:308546005", "MESH:D000784"], "information_content": 90.9}
{"id": "MONDO:0005291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain aneurysm", "equivalent_identifiers": ["MONDO:0005291", "DOID:10941", "EFO:0003870", "UMLS:C0007766", "UMLS:C0155730", "UMLS:C0751003", "UMLS:C0917996", "UMLS:C1290398", "UMLS:C4476540", "MESH:D002532", "MEDDRA:10002333", "MEDDRA:10002334", "MEDDRA:10002337", "MEDDRA:10008075", "MEDDRA:10008078", "MEDDRA:10022758", "NCIT:C101022", "NCIT:C27208", "NCIT:C27222", "NCIT:C34458", "SNOMEDCT:128608001", "SNOMEDCT:128609009", "medgen:196706", "HP:0004944"], "information_content": 82.6}
{"id": "OMIM:617970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RH-NULL, AMORPH TYPE", "equivalent_identifiers": ["OMIM:617970", "UMLS:C4693796"]}
{"id": "MONDO:0008170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian cancer", "equivalent_identifiers": ["MONDO:0008170", "DOID:2394", "OMIM:167000", "orphanet:213500", "UMLS:C1140680", "UMLS:C1299247", "MESH:D010051", "MEDDRA:10007107", "MEDDRA:10026310", "MEDDRA:10033128", "MEDDRA:10033130", "NCIT:C7431", "SNOMEDCT:363443007", "medgen:216027", "icd11.foundation:685124533", "ICD10:C56", "ICD9:183.0"], "information_content": 60.8}
{"id": "MONDO:0003002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysgerminoma", "equivalent_identifiers": ["MONDO:0003002", "DOID:4441", "UMLS:C0013377", "MESH:D004407", "NCIT:C2996", "SNOMEDCT:60718004", "medgen:41680", "icd11.foundation:817547820", "HP:0100621"], "information_content": 90.9}
{"id": "HP:0006774", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ovarian papillary adenocarcinoma", "equivalent_identifiers": ["HP:0006774", "UMLS:C4024979"], "information_content": 100.0}
{"id": "MONDO:0958005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hoxha-Aliu syndrome", "equivalent_identifiers": ["MONDO:0958005", "OMIM:620662", "UMLS:C5882736", "medgen:1846017"], "information_content": 100.0}
{"id": "HP:0005930", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal epiphysis morphology", "equivalent_identifiers": ["HP:0005930", "UMLS:C4021611"], "information_content": 56.2}
{"id": "HP:0004288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphyses of hand bones", "equivalent_identifiers": ["HP:0004288", "UMLS:C4025368"], "information_content": 77.6}
{"id": "HP:6000891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent toe phalanx flexion crease", "equivalent_identifiers": ["HP:6000891", "UMLS:C5937601"], "information_content": 100.0}
{"id": "HP:0008079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent fifth metatarsal", "equivalent_identifiers": ["HP:0008079", "UMLS:C1867932"], "information_content": 100.0}
{"id": "HP:0009276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the proximal interphalangeal joint of the 4th finger", "equivalent_identifiers": ["HP:0009276", "UMLS:C4021503"], "information_content": 100.0}
{"id": "HP:0000944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metaphysis morphology", "equivalent_identifiers": ["HP:0000944", "UMLS:C4025814"], "information_content": 67.0}
{"id": "HP:0004704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short fifth metatarsal", "equivalent_identifiers": ["HP:0004704", "UMLS:C4021649"], "information_content": 100.0}
{"id": "MONDO:0008896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "campomelia, Cumming type", "equivalent_identifiers": ["MONDO:0008896", "OMIM:211890", "orphanet:1318", "UMLS:C1859371", "MESH:C537966", "SNOMEDCT:720599002", "medgen:347864", "icd11.foundation:152223075"], "information_content": 100.0}
{"id": "HP:0001748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polysplenia", "equivalent_identifiers": ["HP:0001748", "UMLS:C1856659"], "information_content": 100.0}
{"id": "MONDO:0000447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant polycystic liver disease", "equivalent_identifiers": ["MONDO:0000447", "DOID:0050770", "OMIM.PS:174050", "orphanet:2924", "UMLS:C0158683", "MESH:C536330", "MEDDRA:10048834", "NCIT:C82833", "SNOMEDCT:72925005", "medgen:56388", "icd11.foundation:1361740083", "icd11.foundation:423904268", "HP:0006557"], "information_content": 88.2}
{"id": "MONDO:0014286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory, type 1F", "equivalent_identifiers": ["MONDO:0014286", "DOID:0070154", "OMIM:615632", "UMLS:C3810194", "medgen:816524"], "information_content": 100.0}
{"id": "HP:0041162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metatarsal fracture", "equivalent_identifiers": ["HP:0041162", "UMLS:C0435943", "MEDDRA:10017298", "SNOMEDCT:263251009"], "information_content": 100.0}
{"id": "MONDO:0001935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurogenic arthropathy", "equivalent_identifiers": ["MONDO:0001935", "DOID:14286", "EFO:1001378", "UMLS:C0003892", "MESH:D001177", "MEDDRA:10003375", "MEDDRA:10008408", "MEDDRA:10008410", "MEDDRA:10029326", "SNOMEDCT:359554008", "SNOMEDCT:67536000", "medgen:13919", "ICD10:M14.6", "ICD9:713.5", "HP:0002821"], "information_content": 100.0}
{"id": "MONDO:0013195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 13", "equivalent_identifiers": ["MONDO:0013195", "DOID:0110319", "OMIM:613243", "UMLS:C2750472", "MESH:C567686", "medgen:442487"], "information_content": 100.0}
{"id": "HP:0005157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Concentric hypertrophic cardiomyopathy", "equivalent_identifiers": ["HP:0005157", "UMLS:C0238044"], "information_content": 100.0}
{"id": "HP:0001681", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angina pectoris", "equivalent_identifiers": ["HP:0001681", "EFO:0003913", "NCIT:C51221", "NCIT:C66914", "UMLS:C0002962", "UMLS:C0340288", "MEDDRA:10002383", "MEDDRA:10002387", "MEDDRA:10002391", "MEDDRA:10002393", "MEDDRA:10041972", "MEDDRA:10049194", "MEDDRA:10054224", "MEDDRA:10056256", "MEDDRA:10056259", "SNOMEDCT:194828000", "SNOMEDCT:225566008", "SNOMEDCT:233819005", "MESH:D000787", "MESH:D060050"], "information_content": 89.4}
{"id": "HP:0011711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left anterior fascicular block", "equivalent_identifiers": ["HP:0011711", "UMLS:C0264912", "MEDDRA:10024096", "MEDDRA:10058182", "SNOMEDCT:37760005"], "information_content": 100.0}
{"id": "HP:0012250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ST segment depression", "equivalent_identifiers": ["HP:0012250", "NCIT:C41330", "UMLS:C0520887", "MEDDRA:10014391", "MEDDRA:10041886", "MEDDRA:10041891", "MEDDRA:10041892", "SNOMEDCT:26141007", "SNOMEDCT:429622005"], "information_content": 90.9}
{"id": "MONDO:0010901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HEC syndrome", "equivalent_identifiers": ["MONDO:0010901", "OMIM:600559", "orphanet:2119", "UMLS:C1833607", "MESH:C535855", "SNOMEDCT:721015008", "medgen:331549"], "information_content": 100.0}
{"id": "MONDO:0032672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with cardiac defects and dysmorphic facies", "equivalent_identifiers": ["MONDO:0032672", "OMIM:618316", "orphanet:562569", "UMLS:C5193024", "SNOMEDCT:1222708006", "medgen:1675627"], "information_content": 100.0}
{"id": "HP:0030451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesenteric cyst", "equivalent_identifiers": ["HP:0030451", "UMLS:C0025467", "MEDDRA:10079196", "SNOMEDCT:253802003", "SNOMEDCT:27970007", "MESH:D008639"], "information_content": 95.4}
{"id": "HP:0010511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long toe", "equivalent_identifiers": ["HP:0010511", "UMLS:C3150613"], "information_content": 95.4}
{"id": "HP:0011571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parachute mitral valve", "equivalent_identifiers": ["HP:0011571", "UMLS:C0546965", "MEDDRA:10064192", "SNOMEDCT:204362007"], "information_content": 100.0}
{"id": "HP:0012725", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous syndactyly", "equivalent_identifiers": ["HP:0012725", "UMLS:C1861921"], "information_content": 80.2}
{"id": "MONDO:0014873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nevus comedonicus syndrome", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0014873", "OMIM:617025", "orphanet:64754", "UMLS:C0265987", "NCIT:C3946", "SNOMEDCT:35962006", "medgen:75592", "HP:0020154"], "information_content": 100.0}
{"id": "MONDO:0011970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "equivalent_identifiers": ["MONDO:0011970", "DOID:0111645", "OMIM:608105", "orphanet:163727", "UMLS:C1842531", "MESH:C535499", "SNOMEDCT:1231737000", "medgen:334104", "icd11.foundation:1311096281"], "information_content": 100.0}
{"id": "MONDO:0016058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal dystonia", "equivalent_identifiers": ["MONDO:0016058", "orphanet:200037", "UMLS:C0393588", "SNOMEDCT:230310003", "medgen:97951", "icd11.foundation:2047715743", "HP:0002268"], "information_content": 82.6}
{"id": "HP:0007332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal hemifacial clonic seizure", "equivalent_identifiers": ["HP:0007332", "UMLS:C4024906"], "information_content": 92.8}
{"id": "MONDO:0010116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracomelic dysplasia", "equivalent_identifiers": ["MONDO:0010116", "OMIM:273740", "orphanet:1803", "UMLS:C1848863", "UMLS:C2931227", "MESH:C536516", "MESH:C564773", "SNOMEDCT:783003009", "medgen:336441", "icd11.foundation:1284518024"], "information_content": 100.0}
{"id": "MONDO:0971172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ReNU SYNDROME", "equivalent_identifiers": ["MONDO:0971172", "OMIM:620851", "orphanet:686488", "UMLS:C5935628", "medgen:1854654"], "information_content": 100.0}
{"id": "MONDO:0004782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes insipidus", "equivalent_identifiers": ["MONDO:0004782", "DOID:9409", "UMLS:C0011848", "MESH:D003919", "MEDDRA:10012599", "NCIT:C43263", "SNOMEDCT:1296758008", "SNOMEDCT:15771004", "medgen:8349", "ICD10:E23.2", "ICD9:253.5", "HP:0000873"], "information_content": 84.2}
{"id": "MONDO:0003155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cavernous hemangioma", "equivalent_identifiers": ["MONDO:0003155", "DOID:483", "EFO:1000151", "UMLS:C0018920", "UMLS:C1959589", "MESH:D006392", "MEDDRA:10019390", "MEDDRA:10055899", "MEDDRA:10071746", "NCIT:C3086", "SNOMEDCT:33377007", "SNOMEDCT:416824008", "medgen:9184", "HP:0001048"], "information_content": 83.6}
{"id": "HP:0034323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating growth hormone concentration", "equivalent_identifiers": ["HP:0034323", "NCIT:C102986", "UMLS:C0271561", "MEDDRA:10056438", "SNOMEDCT:397827003"], "information_content": 100.0}
{"id": "MONDO:0007054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder dimple", "equivalent_identifiers": ["MONDO:0007054", "OMIM:102350", "UMLS:C4023704", "medgen:869278", "HP:0010782"], "information_content": 100.0}
{"id": "HP:0034454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arachnoid granulation", "equivalent_identifiers": ["HP:0034454"], "information_content": 100.0}
{"id": "HP:0000710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperorality", "equivalent_identifiers": ["HP:0000710", "UMLS:C1838320"], "information_content": 100.0}
{"id": "HP:0033715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hippocampal sclerosis", "equivalent_identifiers": ["HP:0033715", "UMLS:C1504404", "UMLS:C2062593", "MEDDRA:10063629", "MEDDRA:10073495", "MESH:D000092223"], "information_content": 100.0}
{"id": "HP:0011825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tented philtrum", "equivalent_identifiers": ["HP:0011825", "UMLS:C4021119"], "information_content": 100.0}
{"id": "HP:0001483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eye poking", "equivalent_identifiers": ["HP:0001483", "UMLS:C0233593", "SNOMEDCT:78894008"], "information_content": 100.0}
{"id": "HP:0034494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opacified paranasal sinuses", "equivalent_identifiers": ["HP:0034494", "UMLS:C5826434"], "information_content": 100.0}
{"id": "HP:0009739", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the antihelix", "equivalent_identifiers": ["HP:0009739", "UMLS:C4021394"], "information_content": 100.0}
{"id": "HP:0031432", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restricted or repetitive behaviors or interests", "equivalent_identifiers": ["HP:0031432", "UMLS:C5826361"], "information_content": 78.0}
{"id": "HP:0034397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Claw toe deformity", "equivalent_identifiers": ["HP:0034397", "UMLS:C5826373"], "information_content": 100.0}
{"id": "HP:0004938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tortuous cerebral arteries", "equivalent_identifiers": ["HP:0004938", "UMLS:C1836791"], "information_content": 100.0}
{"id": "HP:0012683", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pineal cyst", "equivalent_identifiers": ["HP:0012683", "NCIT:C9483", "UMLS:C1335411", "MEDDRA:10068650", "SNOMEDCT:413099000"], "information_content": 92.8}
{"id": "HP:0007651", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectropion of lower eyelids", "equivalent_identifiers": ["HP:0007651", "UMLS:C0521736", "UMLS:C4020808", "SNOMEDCT:95758006"], "information_content": 100.0}
{"id": "HP:0007655", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eversion of lateral third of lower eyelids", "equivalent_identifiers": ["HP:0007655", "UMLS:C1835801"], "information_content": 100.0}
{"id": "HP:0001555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetry of the thorax", "equivalent_identifiers": ["HP:0001555", "UMLS:C1858033"], "information_content": 100.0}
{"id": "HP:0010806", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "U-Shaped upper lip vermilion", "equivalent_identifiers": ["HP:0010806", "UMLS:C1856202"], "information_content": 100.0}
{"id": "HP:0012429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the cerebral white matter", "equivalent_identifiers": ["HP:0012429", "UMLS:C4021844"], "information_content": 84.8}
{"id": "HP:0000692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tooth malposition", "equivalent_identifiers": ["HP:0000692", "UMLS:C1852504", "UMLS:C4280610", "MEDDRA:10076265", "MEDDRA:10084291"], "information_content": 79.3}
{"id": "HP:0030822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hooded upper eyelid", "equivalent_identifiers": ["HP:0030822", "UMLS:C4280749"], "information_content": 100.0}
{"id": "HP:4000079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sensory seeking", "equivalent_identifiers": ["HP:4000079", "UMLS:C5676859"], "information_content": 82.1}
{"id": "HP:6000029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Social anxiety", "equivalent_identifiers": ["HP:6000029", "UMLS:C0424166", "MEDDRA:10041247", "SNOMEDCT:247832004"], "information_content": 100.0}
{"id": "MONDO:0005339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal balding", "equivalent_identifiers": ["MONDO:0005339", "DOID:0050801", "EFO:0004191", "UMLS:C0162311", "UMLS:C1864584", "UMLS:C4083212", "MEDDRA:10025514", "MEDDRA:10068168", "MEDDRA:10068558", "SNOMEDCT:201144006", "SNOMEDCT:87872006", "medgen:56404", "HP:0002292"], "information_content": 89.4}
{"id": "MONDO:0012596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PSAT deficiency", "equivalent_identifiers": ["MONDO:0012596", "DOID:0050723", "OMIM:610992", "orphanet:284417", "UMLS:C1970253", "MESH:C567032", "SNOMEDCT:718603002", "medgen:410026"], "information_content": 100.0}
{"id": "HP:0500228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF serine concentration", "equivalent_identifiers": ["HP:0500228", "UMLS:C5139613"], "information_content": 100.0}
{"id": "HP:0012279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyposerinemia", "equivalent_identifiers": ["HP:0012279", "UMLS:C4022971"], "information_content": 95.4}
{"id": "HP:0012277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglycinemia", "equivalent_identifiers": ["HP:0012277", "UMLS:C4022973"], "information_content": 95.4}
{"id": "HP:0200048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cyanotic attack", "equivalent_identifiers": ["HP:0200048", "UMLS:C0578475", "SNOMEDCT:301795004"], "information_content": 100.0}
{"id": "HP:0034390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF glycine concentration", "equivalent_identifiers": ["HP:0034390", "UMLS:C5706204"], "information_content": 100.0}
{"id": "MONDO:0024521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial abdominal, 1", "equivalent_identifiers": ["MONDO:0024521", "OMIM:100070", "UMLS:C1853365", "MESH:C565230", "medgen:339961"], "information_content": 100.0}
{"id": "MONDO:0005350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abdominal aortic aneurysm", "equivalent_identifiers": ["MONDO:0005350", "DOID:7693", "EFO:0004214", "UMLS:C0162871", "UMLS:C4025248", "MESH:D017544", "MEDDRA:10000051", "MEDDRA:10000054", "MEDDRA:10002338", "NCIT:C27000", "SNOMEDCT:233985008", "medgen:56524", "icd11.foundation:1154633768", "HP:0005112"], "information_content": 88.2}
{"id": "MONDO:0007987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kniest dysplasia", "equivalent_identifiers": ["MONDO:0007987", "DOID:0080045", "OMIM:156550", "orphanet:485", "UMLS:C0265279", "MESH:C537207", "MEDDRA:10081685", "NCIT:C125594", "SNOMEDCT:53974002", "medgen:75559", "icd11.foundation:2088691719"], "information_content": 100.0}
{"id": "HP:0003037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged joints", "equivalent_identifiers": ["HP:0003037", "UMLS:C1859111", "UMLS:C3277124"], "information_content": 79.3}
{"id": "HP:0008271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cartilage collagen", "equivalent_identifiers": ["HP:0008271", "UMLS:C4020803", "UMLS:C4020804", "UMLS:C4021847"], "information_content": 100.0}
{"id": "HP:0006172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened, squared-off epiphyses of tubular bones", "equivalent_identifiers": ["HP:0006172", "UMLS:C1834961"], "information_content": 100.0}
{"id": "HP:0006375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dumbbell-shaped femur", "equivalent_identifiers": ["HP:0006375", "UMLS:C4025052"], "information_content": 100.0}
{"id": "HP:0004619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar kyphoscoliosis", "equivalent_identifiers": ["HP:0004619", "UMLS:C1834953"], "information_content": 100.0}
{"id": "HP:0200003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splayed epiphyses", "equivalent_identifiers": ["HP:0200003", "UMLS:C4021906"], "information_content": 100.0}
{"id": "HP:0000947", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dumbbell-shaped long bone", "equivalent_identifiers": ["HP:0000947", "UMLS:C2749582"], "information_content": 92.8}
{"id": "MONDO:0007377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granular corneal dystrophy type I", "equivalent_identifiers": ["MONDO:0007377", "DOID:0080530", "OMIM:121900", "orphanet:98962", "UMLS:C1641846", "MESH:C537304", "SNOMEDCT:419039007", "medgen:351521"], "information_content": 100.0}
{"id": "MONDO:0001490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal granular dystrophy", "equivalent_identifiers": ["MONDO:0001490", "DOID:12318", "UMLS:C0018179", "MEDDRA:10018673", "NCIT:C34651", "SNOMEDCT:45283008", "medgen:42290", "ICD10:H18.53", "ICD9:371.53", "HP:0007802"], "information_content": 92.8}
{"id": "HP:0007827", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nodular corneal dystrophy", "equivalent_identifiers": ["HP:0007827", "UMLS:C4024792"], "information_content": 100.0}
{"id": "HP:0007809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate corneal dystrophy", "equivalent_identifiers": ["HP:0007809", "UMLS:C4024796"], "information_content": 100.0}
{"id": "MONDO:0032770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with severe speech and ambulation defects", "equivalent_identifiers": ["MONDO:0032770", "OMIM:618470", "UMLS:C5193115", "medgen:1682234"], "information_content": 100.0}
{"id": "MONDO:0021575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 4", "equivalent_identifiers": ["MONDO:0021575", "OMIM:617743", "UMLS:C4540284", "NCIT:C188145", "medgen:1616340"], "information_content": 100.0}
{"id": "MONDO:0011365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis - intellectual disability syndrome, SBBYS type", "equivalent_identifiers": ["MONDO:0011365", "DOID:0060290", "OMIM:603736", "orphanet:3047", "UMLS:C1863557", "MESH:C536717", "MEDDRA:10090556", "SNOMEDCT:699298009", "medgen:350209"], "information_content": 100.0}
{"id": "MONDO:0014643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014643", "OMIM:616449", "orphanet:464738", "UMLS:C4225323", "SNOMEDCT:1187644009", "medgen:897292"], "information_content": 100.0}
{"id": "MONDO:0032767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paragangliomas 6", "equivalent_identifiers": ["MONDO:0032767", "OMIM:618464", "UMLS:C5193112", "medgen:1681559"], "information_content": 100.0}
{"id": "HP:0003334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating catecholamine level", "equivalent_identifiers": ["HP:0003334", "UMLS:C4025629"], "information_content": 92.8}
{"id": "MONDO:0000448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraganglioma", "equivalent_identifiers": ["MONDO:0000448", "DOID:0050773", "OMIM.PS:168000", "EFO:1000453", "UMLS:C0030421", "MESH:D010235", "MEDDRA:10033792", "MEDDRA:10061332", "MEDDRA:10073860", "NCIT:C3308", "SNOMEDCT:127027008", "SNOMEDCT:253029009", "SNOMEDCT:302833002", "SNOMEDCT:72787006", "SNOMEDCT:803009", "medgen:10571", "HP:0002668"], "information_content": 69.7}
{"id": "MONDO:0033309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 32", "equivalent_identifiers": ["MONDO:0033309", "DOID:0080278", "OMIM:617757", "UMLS:C4540342", "medgen:1626697"], "information_content": 100.0}
{"id": "MONDO:0032665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 68", "equivalent_identifiers": ["MONDO:0032665", "DOID:0081229", "OMIM:618302", "UMLS:C4749033", "medgen:1648490"], "information_content": 100.0}
{"id": "MONDO:0009419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Woodhouse-Sakati syndrome", "equivalent_identifiers": ["MONDO:0009419", "DOID:0112264", "OMIM:241080", "orphanet:3464", "UMLS:C0342286", "MESH:C536742", "MEDDRA:10082379", "SNOMEDCT:237616002", "SNOMEDCT:816067005", "medgen:83337", "icd11.foundation:1893572805"], "information_content": 100.0}
{"id": "HP:0008697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the fallopian tube", "equivalent_identifiers": ["HP:0008697", "UMLS:C1968706"], "information_content": 95.4}
{"id": "MONDO:0012220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Griscelli syndrome type 3", "equivalent_identifiers": ["MONDO:0012220", "DOID:0060834", "OMIM:609227", "orphanet:79478", "UMLS:C1836573", "MESH:C537303", "SNOMEDCT:1254947002", "medgen:373124", "icd11.foundation:1959052636"], "information_content": 100.0}
{"id": "MONDO:0014579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome 8", "equivalent_identifiers": ["MONDO:0014579", "OMIM:616307", "UMLS:C4225376", "medgen:905171"], "information_content": 100.0}
{"id": "HP:0033149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intrahepatic bile duct dilatation", "equivalent_identifiers": ["HP:0033149", "UMLS:C4229071"], "information_content": 100.0}
{"id": "HP:0033601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular subepithelial immune-complex deposits", "equivalent_identifiers": ["HP:0033601", "UMLS:C5539713"], "information_content": 100.0}
{"id": "HP:0004737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Global glomerulosclerosis", "equivalent_identifiers": ["HP:0004737", "UMLS:C1865276"], "information_content": 95.4}
{"id": "MONDO:0100340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Friedreich ataxia 1", "equivalent_identifiers": ["MONDO:0100340", "DOID:0111218", "OMIM:229300", "UMLS:C1856689", "MESH:C565561", "medgen:383962"], "information_content": 100.0}
{"id": "HP:0003232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitochondrial malic enzyme reduced", "equivalent_identifiers": ["HP:0003232", "UMLS:C1856697"], "information_content": 100.0}
{"id": "HP:0003209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased pyruvate carboxylase activity", "equivalent_identifiers": ["HP:0003209", "UMLS:C4025641"], "information_content": 100.0}
{"id": "HP:0001956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Truncal obesity", "equivalent_identifiers": ["HP:0001956", "NCIT:C120381", "UMLS:C4551560", "MEDDRA:10065940", "MEDDRA:10065941", "SNOMEDCT:248311001"], "information_content": 95.4}
{"id": "MONDO:0014650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 8", "equivalent_identifiers": ["MONDO:0014650", "DOID:0060754", "OMIM:616461", "UMLS:C4225318", "medgen:909158"], "information_content": 100.0}
{"id": "HP:0032705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal aware cognitive seizure with forced thinking", "equivalent_identifiers": ["HP:0032705", "UMLS:C5397715"], "information_content": 100.0}
{"id": "HP:0032785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "equivalent_identifiers": ["HP:0032785", "UMLS:C5397795"], "information_content": 100.0}
{"id": "HP:0032864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal aware sensory seizure with auditory features", "equivalent_identifiers": ["HP:0032864", "UMLS:C5397869"], "information_content": 100.0}
{"id": "HP:0012005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deja vu aura", "equivalent_identifiers": ["HP:0012005", "UMLS:C0011194", "SNOMEDCT:313005"], "information_content": 100.0}
{"id": "MONDO:0800131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgE recurrent infection syndrome 4A, autosomal dominant", "equivalent_identifiers": ["MONDO:0800131", "OMIM:619752", "UMLS:C5676920", "medgen:1809613"], "information_content": 100.0}
{"id": "HP:0032434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed umbilical cord separation", "equivalent_identifiers": ["HP:0032434", "UMLS:C1260438", "SNOMEDCT:114961000119106"], "information_content": 100.0}
{"id": "HP:0002659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased susceptibility to fractures", "equivalent_identifiers": ["HP:0002659", "UMLS:C1390474"], "information_content": 71.7}
{"id": "HP:0025419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary pneumatocele", "equivalent_identifiers": ["HP:0025419", "UMLS:C1504436", "MEDDRA:10063749"], "information_content": 100.0}
{"id": "MONDO:0012297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SPOAN syndrome", "equivalent_identifiers": ["MONDO:0012297", "DOID:0060491", "OMIM:609541", "orphanet:320406", "UMLS:C1836010", "MESH:C563702", "SNOMEDCT:725139005", "medgen:324411"], "information_content": 100.0}
{"id": "MONDO:0017658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperekplexia", "equivalent_identifiers": ["MONDO:0017658", "orphanet:306773", "UMLS:C0234166", "UMLS:C1740801", "UMLS:C1836014", "UMLS:C1848918", "MESH:D000071017", "MEDDRA:10058271", "MEDDRA:10058274", "MEDDRA:10058275", "MEDDRA:10066482", "SNOMEDCT:19557000", "medgen:488800", "HP:0002267"], "information_content": 86.3}
{"id": "HP:0007054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal hyperreflexia", "equivalent_identifiers": ["HP:0007054", "UMLS:C1836012"], "information_content": 92.8}
{"id": "MONDO:0011861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Breath Holding", "equivalent_identifiers": ["MONDO:0011861", "OMIM:607578", "UMLS:C0476287", "MEDDRA:10006324", "NCIT:C121558", "SNOMEDCT:713013008", "medgen:105400", "HP:6000950"], "information_content": 87.2}
{"id": "HP:0007185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unconsciousness", "equivalent_identifiers": ["HP:0007185", "NCIT:C50635", "UMLS:C0041657", "MEDDRA:10010766", "MEDDRA:10010771", "MEDDRA:10010772", "MEDDRA:10024855", "MEDDRA:10024885", "MEDDRA:10045479", "MEDDRA:10045481", "SNOMEDCT:418107008", "SNOMEDCT:419045004", "MESH:D014474"], "information_content": 80.2}
{"id": "MONDO:0100119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knobloch syndrome 2", "equivalent_identifiers": ["MONDO:0100119", "OMIM:618458", "UMLS:C5676897", "medgen:1812153"], "information_content": 100.0}
{"id": "HP:0033542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bronchial wall thickening", "equivalent_identifiers": ["HP:0033542", "NCIT:C124060", "UMLS:C1868833", "UMLS:C4084859", "MEDDRA:10067182"], "information_content": 100.0}
{"id": "HP:0100832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vitreous debris", "equivalent_identifiers": ["HP:0100832", "NCIT:C50808", "UMLS:C0016242", "UMLS:C0848666", "UMLS:C1720491", "UMLS:C2202686", "MEDDRA:10015924", "MEDDRA:10016778", "MEDDRA:10016779", "MEDDRA:10016780", "MEDDRA:10028284", "MEDDRA:10028623", "MEDDRA:10047653", "MEDDRA:10047654", "MEDDRA:10072356", "MEDDRA:10086635", "SNOMEDCT:15013002", "SNOMEDCT:162278001", "SNOMEDCT:420999000", "MESH:C000726608"], "information_content": 95.4}
{"id": "MONDO:0015925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial lung disease", "equivalent_identifiers": ["MONDO:0015925", "DOID:3082", "orphanet:182095", "EFO:0004244", "UMLS:C0206062", "UMLS:C5399840", "UMLS:C5441745", "MESH:D017563", "MEDDRA:10022611", "NCIT:C164315", "SNOMEDCT:233703007", "medgen:1788738", "ICD10:J84.9", "HP:0006530"], "information_content": 70.1}
{"id": "HP:0007795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior cortical cataract", "equivalent_identifiers": ["HP:0007795", "UMLS:C1857308"], "information_content": 100.0}
{"id": "MONDO:0013660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, Perthes disease, and upward gaze palsy", "equivalent_identifiers": ["MONDO:0013660", "OMIM:614262", "UMLS:C3280309", "medgen:481939"], "information_content": 100.0}
{"id": "HP:0025331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upgaze palsy", "equivalent_identifiers": ["HP:0025331", "UMLS:C4476705"], "information_content": 100.0}
{"id": "MONDO:0007885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perthes Disease", "equivalent_identifiers": ["MONDO:0007885", "DOID:14415", "OMIM:150600", "orphanet:2380", "UMLS:C0022441", "UMLS:C0023234", "UMLS:C1442965", "MESH:D007873", "MEDDRA:10007041", "MEDDRA:10034735", "MEDDRA:10081350", "MEDDRA:10086281", "NCIT:C34766", "SNOMEDCT:111255008", "SNOMEDCT:15739006", "SNOMEDCT:240241003", "medgen:730669", "ICD10:M91.1", "ICD10:M91.2", "HP:0005743"], "information_content": 95.4}
{"id": "MONDO:0007922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphedema-distichiasis syndrome", "equivalent_identifiers": ["MONDO:0007922", "DOID:0111509", "OMIM:153400", "orphanet:33001", "UMLS:C0265345", "UMLS:C2675066", "MESH:C537710", "MESH:C567188", "NCIT:C128191", "SNOMEDCT:8634009", "medgen:75566"], "information_content": 100.0}
{"id": "HP:0003550", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Predominantly lower limb lymphedema", "equivalent_identifiers": ["HP:0003550", "UMLS:C1835228"], "information_content": 100.0}
{"id": "HP:0003011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the musculature", "equivalent_identifiers": ["HP:0003011", "UMLS:C4021745"], "information_content": 48.9}
{"id": "MONDO:0008638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "varicose veins", "equivalent_identifiers": ["MONDO:0008638", "DOID:799", "OMIM:192200", "UMLS:C0042345", "MESH:D014648", "MEDDRA:10046996", "MEDDRA:10047001", "MEDDRA:10047008", "MEDDRA:10047029", "MEDDRA:10047189", "MEDDRA:10057165", "MEDDRA:10090127", "NCIT:C35114", "SNOMEDCT:128060009", "SNOMEDCT:12856003", "SNOMEDCT:399989005", "medgen:21827", "ICD10:I83.90", "HP:0002619"], "information_content": 82.6}
{"id": "HP:0011367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yellow nails", "equivalent_identifiers": ["HP:0011367", "UMLS:C1768507", "SNOMEDCT:45342007"], "information_content": 100.0}
{"id": "MONDO:0011218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 11", "equivalent_identifiers": ["MONDO:0011218", "DOID:0060720", "OMIM:602400", "orphanet:91132", "UMLS:C1835851", "MESH:C536273", "medgen:332073", "ICD10:Q80.8"], "information_content": 100.0}
{"id": "HP:0011082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conical primary incisor", "equivalent_identifiers": ["HP:0011082", "UMLS:C4023543"], "information_content": 100.0}
{"id": "MONDO:0007097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finnish type amyloidosis", "equivalent_identifiers": ["MONDO:0007097", "DOID:0050637", "OMIM:105120", "orphanet:85448", "UMLS:C1622345", "MESH:C537459", "SNOMEDCT:419398009", "medgen:301243"], "information_content": 100.0}
{"id": "HP:0030843", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiac amyloidosis", "equivalent_identifiers": ["HP:0030843", "EFO:1001984", "NCIT:C153217", "UMLS:C0268407", "MEDDRA:10002020", "MEDDRA:10007509", "SNOMEDCT:16573007"], "information_content": 92.8}
{"id": "MONDO:0024647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urolithiasis", "equivalent_identifiers": ["MONDO:0024647", "DOID:0080653", "UMLS:C0451641", "MESH:D052878", "MEDDRA:10046707", "MEDDRA:10046708", "NCIT:C114688", "SNOMEDCT:95566004", "medgen:141536", "icd11.foundation:1746821938", "HP:0034368"], "information_content": 83.1}
{"id": "HP:0031861", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased heart rate variability", "equivalent_identifiers": ["HP:0031861", "UMLS:C4703580", "MEDDRA:10082111"], "information_content": 100.0}
{"id": "HP:0032614", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal glomerular amyloid deposition", "equivalent_identifiers": ["HP:0032614", "UMLS:C5397635"], "information_content": 100.0}
{"id": "HP:0003216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized amyloid deposition", "equivalent_identifiers": ["HP:0003216", "UMLS:C1862968"], "information_content": 100.0}
{"id": "MONDO:0004686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lattice corneal dystrophy", "equivalent_identifiers": ["MONDO:0004686", "DOID:8943", "UMLS:C0155127", "MESH:C537935", "MEDDRA:10024039", "SNOMEDCT:1192004", "SNOMEDCT:361199007", "medgen:56355", "icd11.foundation:1247885635", "HP:0001149"], "information_content": 90.9}
{"id": "MONDO:0011480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 20", "equivalent_identifiers": ["MONDO:0011480", "DOID:0110550", "OMIM:604717", "UMLS:C1858172", "MESH:C565754", "medgen:346852"], "information_content": 100.0}
{"id": "MONDO:0013788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 3B", "equivalent_identifiers": ["MONDO:0013788", "DOID:0110842", "OMIM:614504", "UMLS:C3281066", "medgen:482696"], "information_content": 100.0}
{"id": "HP:0007083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperactive patellar reflex", "equivalent_identifiers": ["HP:0007083", "UMLS:C0240116"], "information_content": 100.0}
{"id": "MONDO:0007934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign concentric annular macular dystrophy", "equivalent_identifiers": ["MONDO:0007934", "DOID:0061106", "OMIM:153870", "orphanet:251287", "UMLS:C0730330", "UMLS:C1828210", "UMLS:C4304667", "UMLS:C5561925", "MESH:C537833", "MEDDRA:10008586", "MEDDRA:10068902", "SNOMEDCT:312958000", "SNOMEDCT:424169002", "SNOMEDCT:719520001", "medgen:1794135", "icd11.foundation:1839503243", "HP:0011504"], "information_content": 100.0}
{"id": "MONDO:0014581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 2A", "equivalent_identifiers": ["MONDO:0014581", "DOID:0110681", "OMIM:616313", "UMLS:C4225374", "medgen:908185"], "information_content": 100.0}
{"id": "MONDO:0014346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "white sponge nevus 2", "equivalent_identifiers": ["MONDO:0014346", "DOID:0081288", "OMIM:615785", "UMLS:C4014321", "medgen:862758"], "information_content": 100.0}
{"id": "HP:0040009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperparakeratosis", "equivalent_identifiers": ["HP:0040009", "NCIT:C96219", "UMLS:C1265968", "SNOMEDCT:125554003"], "information_content": 100.0}
{"id": "MONDO:0007381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelial recurrent erosion dystrophy", "equivalent_identifiers": ["MONDO:0007381", "DOID:0070337", "OMIM:122400", "orphanet:293381", "UMLS:C1852551", "MESH:C565155", "SNOMEDCT:715908008", "medgen:342263", "icd11.foundation:1105690299"], "information_content": 100.0}
{"id": "MONDO:0001793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epiphora", "equivalent_identifiers": ["MONDO:0001793", "DOID:13757", "UMLS:C0152227", "MEDDRA:10015068", "MEDDRA:10015071", "MEDDRA:10015591", "MEDDRA:10023644", "NCIT:C50552", "SNOMEDCT:193982009", "SNOMEDCT:418035005", "medgen:57518", "ICD10:H04.2", "ICD9:375.2", "HP:0009926"], "information_content": 88.2}
{"id": "HP:0200026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ocular pain", "equivalent_identifiers": ["HP:0200026", "NCIT:C78287", "UMLS:C0151827", "MEDDRA:10015906", "MEDDRA:10015958", "MEDDRA:10033397", "MEDDRA:10033426", "MEDDRA:10067261", "SNOMEDCT:41652007", "MESH:D058447"], "information_content": 92.8}
{"id": "MONDO:0013061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 6", "equivalent_identifiers": ["MONDO:0013061", "DOID:0080097", "OMIM:612954", "orphanet:199340", "UMLS:C2751831", "MESH:C567843", "medgen:414119"], "information_content": 100.0}
{"id": "HP:0006597", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diaphragmatic paralysis", "equivalent_identifiers": ["HP:0006597"], "information_content": 100.0}
{"id": "HP:0003306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal rigidity", "equivalent_identifiers": ["HP:0003306", "UMLS:C1858025"], "information_content": 100.0}
{"id": "MONDO:0003334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "demyelinating polyneuropathy", "equivalent_identifiers": ["MONDO:0003334", "DOID:5214", "UMLS:C0270922", "MEDDRA:10012304", "MEDDRA:10061811", "NCIT:C27062", "SNOMEDCT:23414001", "medgen:82859", "HP:0007108"], "information_content": 90.9}
{"id": "MONDO:0018943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy", "equivalent_identifiers": ["MONDO:0018943", "DOID:0080307", "OMIM.PS:601419", "orphanet:593", "UMLS:C2678065", "MESH:C580316", "MEDDRA:10087101", "NCIT:C83009", "SNOMEDCT:699269005", "medgen:395532", "icd11.foundation:125656853", "HP:0003715"], "information_content": 81.7}
{"id": "MONDO:0859290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial apolipoprotein gene cluster deletion syndrome", "equivalent_identifiers": ["MONDO:0859290", "OMIM:620058", "UMLS:C5774318", "medgen:1824091"], "information_content": 100.0}
{"id": "HP:0003146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocholesterolemia", "equivalent_identifiers": ["HP:0003146", "UMLS:C0151718", "MEDDRA:10020960", "MEDDRA:10020961", "MEDDRA:10020962", "MEDDRA:10060382", "SNOMEDCT:61336008"], "information_content": 85.5}
{"id": "MONDO:0007150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arcus senilis", "equivalent_identifiers": ["MONDO:0007150", "DOID:11342", "OMIM:107800", "EFO:1000818", "UMLS:C0003742", "UMLS:C0339268", "MESH:D001112", "MEDDRA:10003082", "MEDDRA:10058651", "MEDDRA:10086627", "SNOMEDCT:111522004", "SNOMEDCT:231924000", "SNOMEDCT:231925004", "medgen:8179", "icd11.foundation:2142011301", "ICD10:H18.41", "HP:0001084"], "information_content": 100.0}
{"id": "HP:0012153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypotriglyceridemia", "equivalent_identifiers": ["HP:0012153", "UMLS:C0542037", "MEDDRA:10021128", "MEDDRA:10021129"], "information_content": 92.8}
{"id": "MONDO:0010380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract, ataxia, short stature, and intellectual disability", "equivalent_identifiers": ["MONDO:0010380", "OMIM:300619", "UMLS:C1845094", "MESH:C535345", "medgen:375579"], "information_content": 100.0}
{"id": "MONDO:0013051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cutis laxa type 2B", "equivalent_identifiers": ["MONDO:0013051", "DOID:0070137", "OMIM:612940", "orphanet:357064", "UMLS:C2751987", "MESH:C567855", "SNOMEDCT:778068007", "medgen:414526"], "information_content": 100.0}
{"id": "HP:0010648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermal translucency", "equivalent_identifiers": ["HP:0010648", "UMLS:C1836646"], "information_content": 100.0}
{"id": "HP:0034273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature sagging cheeks", "equivalent_identifiers": ["HP:0034273", "UMLS:C5676843"], "information_content": 100.0}
{"id": "HP:0001015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent superficial veins", "equivalent_identifiers": ["HP:0001015", "UMLS:C1837785"], "information_content": 88.2}
{"id": "HP:0000418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow nasal ridge", "equivalent_identifiers": ["HP:0000418", "UMLS:C1837761"], "information_content": 100.0}
{"id": "HP:0004948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vascular tortuosity", "equivalent_identifiers": ["HP:0004948", "UMLS:C2673776"], "information_content": 85.5}
{"id": "MONDO:0007597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor VIII and Factor IX, combined deficiency of", "equivalent_identifiers": ["MONDO:0007597", "OMIM:134510", "UMLS:C1851376", "MESH:C565024", "medgen:341994"], "information_content": 100.0}
{"id": "MONDO:0013013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "question mark ears, isolated", "equivalent_identifiers": ["MONDO:0013013", "OMIM:612798", "UMLS:C2748545", "medgen:411238"], "information_content": 100.0}
{"id": "HP:0030022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Question mark ear", "equivalent_identifiers": ["HP:0030022", "UMLS:C3888103"], "information_content": 100.0}
{"id": "MONDO:0011567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1K", "equivalent_identifiers": ["MONDO:0011567", "DOID:0110437", "OMIM:605582", "UMLS:C1854159", "MESH:C565320", "medgen:381354"], "information_content": 100.0}
{"id": "HP:0033113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gallop rhythm", "equivalent_identifiers": ["HP:0033113", "UMLS:C0232200", "MEDDRA:10050133", "SNOMEDCT:2170000"], "information_content": 90.9}
{"id": "MONDO:0020781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1", "equivalent_identifiers": ["MONDO:0020781", "OMIM:617186", "orphanet:555407", "UMLS:C4310675", "SNOMEDCT:1251447008", "medgen:934642"], "information_content": 100.0}
{"id": "HP:0030915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar edema", "equivalent_identifiers": ["HP:0030915", "UMLS:C4316985", "MEDDRA:10057359", "MEDDRA:10057360", "SNOMEDCT:1342329006"], "information_content": 100.0}
{"id": "HP:0002318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical myelopathy", "equivalent_identifiers": ["HP:0002318", "UMLS:C0149645", "MEDDRA:10008289", "MEDDRA:10028571", "SNOMEDCT:202664003"], "information_content": 100.0}
{"id": "MONDO:0020594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abducens palsy", "equivalent_identifiers": ["MONDO:0020594", "UMLS:C0271355", "MESH:D020434", "MEDDRA:10053646", "MEDDRA:10053662", "NCIT:C27593", "SNOMEDCT:398760006", "SNOMEDCT:398925009", "SNOMEDCT:398963001", "medgen:78767", "HP:0006897"], "information_content": 92.8}
{"id": "HP:0200041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin erosion", "equivalent_identifiers": ["HP:0200041", "NCIT:C50845", "UMLS:C0241069", "UMLS:C3887524", "MEDDRA:10040840", "SNOMEDCT:93448009"], "information_content": 83.1}
{"id": "HP:0002196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelopathy", "equivalent_identifiers": ["HP:0002196"], "information_content": 92.8}
{"id": "HP:0011922", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal activity of mitochondrial respiratory chain", "equivalent_identifiers": ["HP:0011922", "UMLS:C4023126"], "information_content": 86.3}
{"id": "HP:0012762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral white matter atrophy", "equivalent_identifiers": ["HP:0012762", "UMLS:C4022735"], "information_content": 95.4}
{"id": "HP:0046507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bradypnea", "equivalent_identifiers": ["HP:0046507", "EFO:0009839", "NCIT:C50474", "UMLS:C0231837", "MEDDRA:10006101", "MEDDRA:10006102", "MEDDRA:10006341", "MEDDRA:10006343", "MEDDRA:10038655", "MEDDRA:10038710", "MEDDRA:10038713", "SNOMEDCT:86684002"], "information_content": 100.0}
{"id": "MONDO:0014575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Singleton-Merten syndrome 2", "equivalent_identifiers": ["MONDO:0014575", "OMIM:616298", "UMLS:C4225380", "medgen:907372"], "information_content": 100.0}
{"id": "HP:0032153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subluxation", "equivalent_identifiers": ["HP:0032153", "NCIT:C172034", "UMLS:C0332768", "MEDDRA:10023231", "MEDDRA:10042402", "SNOMEDCT:263031003", "SNOMEDCT:26396009"], "information_content": 83.6}
{"id": "HP:0025526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Psoriasiform lesion", "equivalent_identifiers": ["HP:0025526", "UMLS:C4476830", "UMLS:C4476831"], "information_content": 100.0}
{"id": "MONDO:0019568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, classic type, 2", "equivalent_identifiers": ["MONDO:0019568", "DOID:0080726", "OMIM:130010", "UMLS:C0268336", "MESH:C536195", "NCIT:C125697", "SNOMEDCT:1287094005", "medgen:120628"], "information_content": 100.0}
{"id": "HP:0031869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent joint dislocation", "equivalent_identifiers": ["HP:0031869", "UMLS:C0158100", "MEDDRA:10008938", "MEDDRA:10023207", "MEDDRA:10038118", "MEDDRA:10038123", "SNOMEDCT:5137004"], "information_content": 92.8}
{"id": "HP:0002761", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized joint hypermobility", "equivalent_identifiers": ["HP:0002761", "UMLS:C1836308"], "information_content": 100.0}
{"id": "HP:0001073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cigarette-paper scars", "equivalent_identifiers": ["HP:0001073", "UMLS:C1851828"], "information_content": 100.0}
{"id": "HP:0025014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcutaneous spheroids", "equivalent_identifiers": ["HP:0025014", "UMLS:C4293700"], "information_content": 100.0}
{"id": "HP:0100790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hernia", "equivalent_identifiers": ["HP:0100790", "EFO:0020006", "NCIT:C34685", "UMLS:C0019270", "UMLS:C0178282", "UMLS:C0205792", "MEDDRA:10000068", "MEDDRA:10000074", "MEDDRA:10014884", "MEDDRA:10019909", "MEDDRA:10019918", "MEDDRA:10036371", "MEDDRA:10051989", "MEDDRA:10060954", "SNOMEDCT:30477007", "SNOMEDCT:398061002", "SNOMEDCT:414403008", "SNOMEDCT:47671001", "SNOMEDCT:52515009", "MESH:D006547"], "information_content": 72.4}
{"id": "HP:0000993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Molluscoid pseudotumors", "equivalent_identifiers": ["HP:0000993", "UMLS:C1844597"], "information_content": 100.0}
{"id": "MONDO:0014420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature due to primary acid-labile subunit deficiency", "equivalent_identifiers": ["MONDO:0014420", "OMIM:615961", "orphanet:140941", "UMLS:C3900122", "UMLS:C4303612", "UMLS:C4321359", "NCIT:C120114", "SNOMEDCT:721074002", "medgen:859716", "icd11.foundation:29735645", "HP:0045046"], "information_content": 100.0}
{"id": "HP:0001530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild postnatal growth retardation", "equivalent_identifiers": ["HP:0001530", "UMLS:C1835580", "UMLS:C3550204"], "information_content": 100.0}
{"id": "HP:0008189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Insulin insensitivity", "equivalent_identifiers": ["HP:0008189", "UMLS:C1864570"], "information_content": 100.0}
{"id": "MONDO:0009652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GNPTG-mucolipidosis", "equivalent_identifiers": ["MONDO:0009652", "DOID:0080678", "OMIM:252605", "orphanet:423470", "UMLS:C1854896", "MESH:C565367", "NCIT:C129978", "medgen:340743"], "information_content": 100.0}
{"id": "HP:0003333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum beta-hexosaminidase", "equivalent_identifiers": ["HP:0003333", "UMLS:C2673361"], "information_content": 100.0}
{"id": "HP:0034681", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger joint contracture", "equivalent_identifiers": ["HP:0034681", "UMLS:C0343146", "SNOMEDCT:239737007"], "information_content": 78.3}
{"id": "HP:0008155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mucopolysacchariduria", "equivalent_identifiers": ["HP:0008155", "UMLS:C4024726"], "information_content": 89.4}
{"id": "HP:0034665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder contracture", "equivalent_identifiers": ["HP:0034665", "UMLS:C1848475"], "information_content": 88.2}
{"id": "HP:0003538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased iduronate sulfatase level", "equivalent_identifiers": ["HP:0003538", "UMLS:C2673363", "UMLS:C4025599"], "information_content": 100.0}
{"id": "OMIM:234580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deafness enamel hypoplasia nail defects", "equivalent_identifiers": ["OMIM:234580", "UMLS:C1856186", "UMLS:C4551980", "MESH:C535994", "SNOMEDCT:721085000"]}
{"id": "HP:0041093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beau's lines", "equivalent_identifiers": ["HP:0041093", "NCIT:C112814", "UMLS:C0263534", "MEDDRA:10074981", "SNOMEDCT:44087005"], "information_content": 100.0}
{"id": "MONDO:0030931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 4", "equivalent_identifiers": ["MONDO:0030931", "DOID:0060915", "OMIM:619183", "UMLS:C5543053", "medgen:1780127"], "information_content": 100.0}
{"id": "MONDO:0027766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized lipodystrophy", "equivalent_identifiers": ["MONDO:0027766", "DOID:0080298", "UMLS:C4317112", "MEDDRA:10053858", "MEDDRA:10073913", "NCIT:C131815", "medgen:1369615", "HP:0009064"], "information_content": 85.5}
{"id": "HP:0033331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute phase response", "equivalent_identifiers": ["HP:0033331", "UMLS:C0001349", "MEDDRA:10048998", "MESH:D000210"], "information_content": 83.1}
{"id": "MONDO:0060627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycosylphosphatidylinositol biosynthesis defect 15", "equivalent_identifiers": ["MONDO:0060627", "OMIM:617810", "orphanet:529665", "UMLS:C4540520", "SNOMEDCT:1217381009", "medgen:1615160"], "information_content": 100.0}
{"id": "MONDO:0012156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenic syndrome, congenital, 1B, fast-channel", "equivalent_identifiers": ["MONDO:0012156", "DOID:0110662", "OMIM:608930", "UMLS:C4225405", "medgen:909200"], "information_content": 100.0}
{"id": "HP:0003402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased miniature endplate potentials", "equivalent_identifiers": ["HP:0003402", "UMLS:C1853952"], "information_content": 100.0}
{"id": "MONDO:0007546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloproliferative disorder, chronic, with eosinophilia", "equivalent_identifiers": ["MONDO:0007546", "DOID:0111344", "OMIM:131440", "UMLS:C1851585", "MESH:C565054", "medgen:377060", "HP:0006782"], "information_content": 100.0}
{"id": "MONDO:0020076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloproliferative neoplasm", "equivalent_identifiers": ["MONDO:0020076", "DOID:2226", "orphanet:98274", "EFO:0002428", "UMLS:C0027022", "UMLS:C1292778", "MESH:D009196", "MEDDRA:10013238", "MEDDRA:10028576", "MEDDRA:10028577", "MEDDRA:10077465", "NCIT:C4345", "SNOMEDCT:109993000", "SNOMEDCT:414794006", "SNOMEDCT:425333006", "medgen:220955", "ICD10:D47.1", "HP:0005547"], "information_content": 66.7}
{"id": "MONDO:0008864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biemond syndrome type 2", "equivalent_identifiers": ["MONDO:0008864", "OMIM:210350", "orphanet:141333", "UMLS:C1859487", "MESH:C565902", "SNOMEDCT:717887003", "medgen:347159"], "information_content": 100.0}
{"id": "MONDO:0005151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocrine system disorder", "equivalent_identifiers": ["MONDO:0005151", "DOID:28", "EFO:0001379", "UMLS:C0014130", "UMLS:C4025823", "MESH:D004700", "MEDDRA:10013217", "MEDDRA:10014695", "MEDDRA:10014697", "MEDDRA:10014698", "MEDDRA:10045863", "NCIT:C3009", "SNOMEDCT:362969004", "medgen:4043", "ICD10:E34.9", "ICD9:259.9", "HP:0000818"], "information_content": 50.8}
{"id": "MONDO:0013067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 34 multiple types", "equivalent_identifiers": ["MONDO:0013067", "DOID:0110230", "OMIM:612968", "UMLS:C2751822", "MESH:C567835", "medgen:442822"], "information_content": 100.0}
{"id": "MONDO:0007284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoaphakia", "equivalent_identifiers": ["MONDO:0007284", "DOID:0110240", "OMIM:116100", "UMLS:C0524524", "UMLS:C3805410", "medgen:101117", "HP:0010922"], "information_content": 100.0}
{"id": "MONDO:0060622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with severe motor impairment and absent language", "equivalent_identifiers": ["MONDO:0060622", "OMIM:617804", "orphanet:647788", "UMLS:C4540496", "medgen:1622162"], "information_content": 100.0}
{"id": "HP:0012724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper eyelid edema", "equivalent_identifiers": ["HP:0012724", "UMLS:C2025988", "UMLS:C3839407", "SNOMEDCT:700339006"], "information_content": 100.0}
{"id": "HP:0000274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small face", "equivalent_identifiers": ["HP:0000274", "UMLS:C1855538"], "information_content": 82.1}
{"id": "MONDO:0859295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties", "equivalent_identifiers": ["MONDO:0859295", "DOID:0070479", "OMIM:620070", "UMLS:C5774228", "medgen:1824001"], "information_content": 100.0}
{"id": "HP:0011625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple muscular ventricular septal defects", "equivalent_identifiers": ["HP:0011625", "UMLS:C4023263"], "information_content": 100.0}
{"id": "MONDO:0010681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelolymphatic insufficiency", "equivalent_identifiers": ["MONDO:0010681", "OMIM:310350", "UMLS:C1839650", "medgen:333371"], "information_content": 100.0}
{"id": "MONDO:0010256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 21", "equivalent_identifiers": ["MONDO:0010256", "DOID:0112022", "OMIM:300143", "UMLS:C0796241", "UMLS:C5551510", "MESH:C563148", "medgen:1790509"], "information_content": 100.0}
{"id": "HP:0000053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macroorchidism", "equivalent_identifiers": ["HP:0000053", "UMLS:C1263023", "MEDDRA:10081860", "SNOMEDCT:276412008"], "information_content": 83.1}
{"id": "MONDO:0021582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lentigo", "equivalent_identifiers": ["MONDO:0021582", "OMIM:150900", "UMLS:C0023321", "MESH:D007911", "MEDDRA:10024217", "MEDDRA:10087525", "NCIT:C3159", "SNOMEDCT:402624000", "SNOMEDCT:767376003", "medgen:7301"], "information_content": 95.4}
{"id": "OMIM:127550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1", "equivalent_identifiers": ["OMIM:127550", "UMLS:C4551974", "NCIT:C176921"], "information_content": 100.0}
{"id": "MONDO:0010947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Budd-Chiari syndrome", "equivalent_identifiers": ["MONDO:0010947", "OMIM:600880", "orphanet:131", "UMLS:C0856761", "MESH:D006502", "MEDDRA:10006536", "MEDDRA:10006537", "MEDDRA:10019714", "MEDDRA:10042793", "MEDDRA:10051567", "SNOMEDCT:82385007", "medgen:163632", "icd11.foundation:1300118676", "HP:0002639"], "information_content": 100.0}
{"id": "HP:0006515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interstitial pneumonitis", "equivalent_identifiers": ["HP:0006515", "NCIT:C27006", "UMLS:C0206061", "UMLS:C5887144", "MEDDRA:10022617", "MEDDRA:10022618", "MEDDRA:10035715", "SNOMEDCT:1306604007", "SNOMEDCT:64667001"], "information_content": 87.2}
{"id": "MONDO:0002529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0002529", "DOID:3151", "UMLS:C0553723", "MEDDRA:10041834", "MEDDRA:10085908", "NCIT:C4819", "SNOMEDCT:254651007", "medgen:107512", "HP:0006739"], "information_content": 72.8}
{"id": "HP:0006480", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature loss of teeth", "equivalent_identifiers": ["HP:0006480", "UMLS:C0232513", "UMLS:C0399385", "SNOMEDCT:234974002", "SNOMEDCT:42756003"], "information_content": 92.8}
{"id": "HP:0002605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic necrosis", "equivalent_identifiers": ["HP:0002605", "NCIT:C78340", "UMLS:C0151798", "MEDDRA:10019692", "MEDDRA:10024701", "MEDDRA:10028867", "SNOMEDCT:87248009"], "information_content": 87.2}
{"id": "MONDO:0012262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosis of extraocular muscles, congenital, 3c", "equivalent_identifiers": ["MONDO:0012262", "DOID:0081019", "OMIM:609384", "EFO:1001985", "UMLS:C2750404", "MESH:C567666", "medgen:412956"], "information_content": 100.0}
{"id": "HP:0007867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restrictive partial external ophthalmoplegia", "equivalent_identifiers": ["HP:0007867", "UMLS:C4024781"], "information_content": 100.0}
{"id": "HP:0007911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital bilateral ptosis", "equivalent_identifiers": ["HP:0007911", "UMLS:C1836264"], "information_content": 100.0}
{"id": "MONDO:0013761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood encephalopathy due to thiamine pyrophosphokinase deficiency", "equivalent_identifiers": ["MONDO:0013761", "OMIM:614458", "orphanet:293955", "UMLS:C3280866", "medgen:482496"], "information_content": 100.0}
{"id": "HP:0001032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent distal interphalangeal creases", "equivalent_identifiers": ["HP:0001032", "UMLS:C1861349"], "information_content": 95.4}
{"id": "HP:0010107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short proximal phalanx of hallux", "equivalent_identifiers": ["HP:0010107", "UMLS:C1862159"], "information_content": 100.0}
{"id": "HP:0010194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the middle phalanges of the toes", "equivalent_identifiers": ["HP:0010194", "UMLS:C4023976"], "information_content": 81.3}
{"id": "HP:0009462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial deviation of the 3rd finger", "equivalent_identifiers": ["HP:0009462", "UMLS:C4024345"], "information_content": 100.0}
{"id": "HP:0006165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proportionate shortening of all digits", "equivalent_identifiers": ["HP:0006165", "UMLS:C1862157"], "information_content": 100.0}
{"id": "HP:0009279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial deviation of the 4th finger", "equivalent_identifiers": ["HP:0009279", "UMLS:C4024473"], "information_content": 100.0}
{"id": "HP:0006146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad metacarpal epiphyses", "equivalent_identifiers": ["HP:0006146", "UMLS:C4025088"], "information_content": 95.4}
{"id": "HP:0006213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin proximal phalanges with broad epiphyses of the hand", "equivalent_identifiers": ["HP:0006213", "UMLS:C1862156", "UMLS:C4025079"], "information_content": 100.0}
{"id": "HP:0006236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender metacarpals", "equivalent_identifiers": ["HP:0006236", "UMLS:C4025077"], "information_content": 100.0}
{"id": "MONDO:0032789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 71", "equivalent_identifiers": ["MONDO:0032789", "DOID:0081232", "OMIM:618504", "EFO:0010280", "UMLS:C5193133", "medgen:1673448"], "information_content": 100.0}
{"id": "MONDO:0007032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prune belly", "equivalent_identifiers": ["MONDO:0007032", "DOID:0060889", "OMIM:100100", "orphanet:2970", "EFO:1001790", "UMLS:C0033770", "UMLS:C1721053", "MESH:D011535", "MESH:D053716", "MEDDRA:10051025", "MEDDRA:10051035", "MEDDRA:10051036", "NCIT:C85033", "SNOMEDCT:5187006", "SNOMEDCT:710072005", "medgen:18718", "icd11.foundation:1393408621", "ICD10:Q79.4", "HP:0004392"], "information_content": 100.0}
{"id": "HP:0011094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep overbite", "equivalent_identifiers": ["HP:0011094", "UMLS:C0266063", "UMLS:C0266067", "UMLS:C1305740", "MEDDRA:10069005", "SNOMEDCT:10816007", "SNOMEDCT:251293001", "SNOMEDCT:60476005", "SNOMEDCT:63783001", "MESH:D057887"], "information_content": 100.0}
{"id": "MONDO:0033198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 106", "equivalent_identifiers": ["MONDO:0033198", "DOID:0080261", "OMIM:617637", "UMLS:C4539954", "medgen:1627111"], "information_content": 100.0}
{"id": "MONDO:0012425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, fuchs endothelial, 2", "equivalent_identifiers": ["MONDO:0012425", "OMIM:610158", "UMLS:C1857800", "MESH:C535479", "medgen:347552"], "information_content": 100.0}
{"id": "MONDO:0001515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal degeneration", "equivalent_identifiers": ["MONDO:0001515", "DOID:1237", "UMLS:C0155118", "MEDDRA:10010996", "MEDDRA:10010997", "SNOMEDCT:111521006", "medgen:56352", "icd11.foundation:699504167", "ICD10:H18.4", "ICD9:371.4", "HP:0007705"], "information_content": 87.2}
{"id": "MONDO:0007180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities", "equivalent_identifiers": ["MONDO:0007180", "OMIM:109120", "UMLS:C1862373", "MESH:C566234", "medgen:349489"], "information_content": 100.0}
{"id": "MONDO:0019187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rieger syndrome", "equivalent_identifiers": ["MONDO:0019187", "DOID:14686", "OMIM.PS:180500", "orphanet:782", "UMLS:C0265341", "UMLS:C3495488", "MESH:C535679", "MEDDRA:10059197", "MEDDRA:10059198", "MEDDRA:10059255", "NCIT:C131001", "SNOMEDCT:417604002", "SNOMEDCT:47507006", "medgen:501192", "ICD10:Q13.81", "HP:0000558"], "information_content": 90.9}
{"id": "HP:0007886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent extraocular muscles", "equivalent_identifiers": ["HP:0007886", "UMLS:C1408781", "UMLS:C4024777"], "information_content": 95.4}
{"id": "HP:0007873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally prominent line of Schwalbe", "equivalent_identifiers": ["HP:0007873", "UMLS:C1862376"], "information_content": 100.0}
{"id": "MONDO:0010437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe X-linked mitochondrial encephalomyopathy", "equivalent_identifiers": ["MONDO:0010437", "DOID:0111502", "OMIM:300816", "orphanet:238329", "UMLS:C3151753", "UMLS:C4302745", "SNOMEDCT:722212004", "medgen:463103"], "information_content": 100.0}
{"id": "MONDO:0003996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia disorder", "equivalent_identifiers": ["MONDO:0003996", "DOID:679", "EFO:0009533", "UMLS:C0004782", "UMLS:C4520981", "MESH:D001480", "SNOMEDCT:70835005", "medgen:1619147", "HP:0002134"], "information_content": 69.7}
{"id": "MONDO:0002316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "motor peripheral neuropathy", "equivalent_identifiers": ["MONDO:0002316", "DOID:2477", "UMLS:C0271683", "MEDDRA:10078252", "NCIT:C3500", "SNOMEDCT:85423005", "SNOMEDCT:95663000", "medgen:82885", "HP:0007178"], "information_content": 83.6}
{"id": "MONDO:0001590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "quadriplegia", "equivalent_identifiers": ["MONDO:0001590", "DOID:12835", "EFO:0009684", "UMLS:C0034372", "MESH:D011782", "MEDDRA:10037714", "MEDDRA:10037719", "MEDDRA:10043385", "NCIT:C50721", "SNOMEDCT:11538006", "medgen:19617", "ICD10:G82.5", "ICD9:344.00", "HP:0002445"], "information_content": 95.4}
{"id": "MONDO:0013268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontonasal dysplasia with alopecia and genital anomaly", "equivalent_identifiers": ["MONDO:0013268", "DOID:0081046", "OMIM:613451", "orphanet:228390", "UMLS:C3150703", "UMLS:C4510728", "SNOMEDCT:725029001", "medgen:462053"], "information_content": 100.0}
{"id": "HP:0031585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tessier number 13 facial cleft", "equivalent_identifiers": ["HP:0031585", "UMLS:C4703426"], "information_content": 100.0}
{"id": "HP:0000437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depressed nasal tip", "equivalent_identifiers": ["HP:0000437", "UMLS:C1859717"], "information_content": 100.0}
{"id": "HP:0011326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior plagiocephaly", "equivalent_identifiers": ["HP:0011326", "UMLS:C0432124", "UMLS:C4023413", "UMLS:C4280328", "UMLS:C4280329", "UMLS:C4280330", "SNOMEDCT:254020001"], "information_content": 100.0}
{"id": "MONDO:0008064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasal bones, absence of", "equivalent_identifiers": ["MONDO:0008064", "OMIM:161480", "UMLS:C0339850", "UMLS:C0339851", "UMLS:C4023635", "MESH:C562753", "SNOMEDCT:1003577003", "SNOMEDCT:1145463001", "SNOMEDCT:91900007", "medgen:90946", "HP:0010941"], "information_content": 100.0}
{"id": "MONDO:0013070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 7", "equivalent_identifiers": ["MONDO:0013070", "DOID:0070173", "OMIM:612997", "UMLS:C2751811", "MESH:C567832", "medgen:414478"], "information_content": 100.0}
{"id": "MONDO:0014019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 24", "equivalent_identifiers": ["MONDO:0014019", "DOID:0090052", "OMIM:615034", "orphanet:420485", "UMLS:C3554374", "SNOMEDCT:783179009", "medgen:767288"], "information_content": 100.0}
{"id": "HP:0031960", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arm dystonia", "equivalent_identifiers": ["HP:0031960", "UMLS:C4732776"], "information_content": 100.0}
{"id": "HP:0200085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb tremor", "equivalent_identifiers": ["HP:0200085", "UMLS:C0235081", "MEDDRA:10044572"], "information_content": 95.4}
{"id": "MONDO:0010181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculogastrointestinal muscular dystrophy", "equivalent_identifiers": ["MONDO:0010181", "OMIM:277320", "orphanet:1876", "UMLS:C1848586", "MESH:C536350", "SNOMEDCT:722060007", "medgen:336376", "icd11.foundation:1205053137"], "information_content": 100.0}
{"id": "MONDO:0022013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Boerhaave syndrome", "equivalent_identifiers": ["MONDO:0022013", "UMLS:C0238115", "MESH:C536571", "MEDDRA:10061515", "SNOMEDCT:19995004", "medgen:65948", "HP:0005203"], "information_content": 100.0}
{"id": "MONDO:0009992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoglobinuria, acute recurrent, autosomal recessive", "equivalent_identifiers": ["MONDO:0009992", "OMIM:268200", "UMLS:C1849386", "MESH:C564832", "medgen:340308"], "information_content": 100.0}
{"id": "MONDO:0002492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute kidney failure", "equivalent_identifiers": ["MONDO:0002492", "DOID:3021", "UMLS:C0022660", "UMLS:C2609414", "MESH:D058186", "MEDDRA:10000821", "MEDDRA:10001041", "MEDDRA:10001051", "MEDDRA:10016150", "MEDDRA:10023419", "MEDDRA:10038436", "MEDDRA:10038526", "MEDDRA:10069339", "NCIT:C26808", "SNOMEDCT:14350001000004108", "SNOMEDCT:14669001", "medgen:388570", "icd11.foundation:476391827", "HP:0001919"], "information_content": 85.5}
{"id": "MONDO:0012103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 25", "equivalent_identifiers": ["MONDO:0012103", "DOID:0050974", "OMIM:608703", "orphanet:101111", "UMLS:C1837518", "MESH:C537202", "SNOMEDCT:718770005", "medgen:373347", "icd11.foundation:8347192"], "information_content": 100.0}
{"id": "HP:0006944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abolished vibration sense", "equivalent_identifiers": ["HP:0006944", "UMLS:C1837520"], "information_content": 100.0}
{"id": "MONDO:0016373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial Myokymia", "equivalent_identifiers": ["MONDO:0016373", "UMLS:C0270871", "MEDDRA:10086154", "SNOMEDCT:1070000", "medgen:78741", "HP:0000317"], "information_content": 100.0}
{"id": "MONDO:0012643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 32", "equivalent_identifiers": ["MONDO:0012643", "DOID:0110783", "OMIM:611252", "orphanet:171622", "UMLS:C1970009", "MESH:C566983", "SNOMEDCT:726606003", "medgen:409967"], "information_content": 100.0}
{"id": "MONDO:0010429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 96", "equivalent_identifiers": ["MONDO:0010429", "DOID:0112035", "OMIM:300802", "UMLS:C3275408", "medgen:477039"], "information_content": 100.0}
{"id": "MONDO:0009157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split hand-foot malformation 6", "equivalent_identifiers": ["MONDO:0009157", "DOID:0090026", "OMIM:225300", "UMLS:C2749665", "MESH:C567616", "medgen:440845"], "information_content": 100.0}
{"id": "MONDO:0032650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, with cerebellar atrophy", "equivalent_identifiers": ["MONDO:0032650", "OMIM:618276", "EFO:0010256", "UMLS:C4748934", "medgen:1648286"], "information_content": 100.0}
{"id": "HP:0011410", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caesarean section", "equivalent_identifiers": ["HP:0011410", "UMLS:C1384674", "SNOMEDCT:200144004"], "information_content": 92.8}
{"id": "MONDO:0014940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", "equivalent_identifiers": ["MONDO:0014940", "DOID:0081364", "OMIM:617145", "UMLS:C4310693", "medgen:934660"], "information_content": 100.0}
{"id": "MONDO:0014333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymicrogyria, bilateral perisylvian, autosomal recessive", "equivalent_identifiers": ["MONDO:0014333", "OMIM:615752", "UMLS:C3810405", "medgen:816735"], "information_content": 100.0}
{"id": "MONDO:0010263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AMME complex", "equivalent_identifiers": ["MONDO:0010263", "DOID:0111860", "OMIM:300194", "orphanet:86818", "UMLS:C1846242", "MESH:C564570", "SNOMEDCT:720982007", "medgen:337424"], "information_content": 95.4}
{"id": "MONDO:0001478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anisometropia", "equivalent_identifiers": ["MONDO:0001478", "DOID:12273", "UMLS:C0003081", "MESH:D015858", "MEDDRA:10002537", "SNOMEDCT:3289004", "medgen:8099", "icd11.foundation:386251928", "ICD10:H52.31", "ICD9:367.31", "HP:0012803"], "information_content": 100.0}
{"id": "MONDO:0009145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SchC6pf-Schulz-Passarge syndrome", "equivalent_identifiers": ["MONDO:0009145", "DOID:0111647", "OMIM:224750", "orphanet:50944", "UMLS:C1857069", "MESH:C565607", "SNOMEDCT:700062000", "medgen:347366"], "information_content": 100.0}
{"id": "MONDO:0006738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poroma", "equivalent_identifiers": ["MONDO:0006738", "DOID:5442", "EFO:1000912", "EFO:1001826", "UMLS:C0206671", "UMLS:C2717981", "UMLS:C2718092", "MESH:D018250", "MESH:D057091", "NCIT:C27273", "SNOMEDCT:400099008", "SNOMEDCT:81143000", "medgen:104915", "HP:0031405"], "information_content": 85.5}
{"id": "HP:0031454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apocrine hidrocystoma", "equivalent_identifiers": ["HP:0031454", "NCIT:C43342", "UMLS:C5848312", "SNOMEDCT:1296890008", "SNOMEDCT:1296969001"], "information_content": 100.0}
{"id": "HP:0034946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple eyelid margin cysts", "equivalent_identifiers": ["HP:0034946", "UMLS:C5826791"], "information_content": 100.0}
{"id": "MONDO:0013763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 15", "equivalent_identifiers": ["MONDO:0013763", "DOID:0110984", "OMIM:614464", "UMLS:C3280897", "medgen:482527"], "information_content": 100.0}
{"id": "HP:0030769", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exencephaly", "equivalent_identifiers": ["HP:0030769", "NCIT:C124531", "UMLS:C0266453", "MEDDRA:10015633", "SNOMEDCT:84461004"], "information_content": 100.0}
{"id": "MONDO:0010019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secretory component deficiency", "equivalent_identifiers": ["MONDO:0010019", "OMIM:269650", "UMLS:C0398709", "MESH:C562869", "SNOMEDCT:234554004", "medgen:140769", "HP:0004433"], "information_content": 100.0}
{"id": "HP:0005411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic intestinal candidiasis", "equivalent_identifiers": ["HP:0005411", "UMLS:C4020823", "UMLS:C4025199"], "information_content": 100.0}
{"id": "MONDO:0012783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RFT1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012783", "DOID:0080566", "OMIM:612015", "orphanet:244310", "UMLS:C2677590", "MESH:C567437", "SNOMEDCT:733084000", "medgen:383145"], "information_content": 100.0}
{"id": "MONDO:0013677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant", "equivalent_identifiers": ["MONDO:0013677", "DOID:0070252", "OMIM:614302", "UMLS:C3553060", "medgen:765974"], "information_content": 100.0}
{"id": "MONDO:0014675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 104", "equivalent_identifiers": ["MONDO:0014675", "DOID:0110465", "OMIM:616515", "UMLS:C4225298", "medgen:899775"], "information_content": 100.0}
{"id": "HP:0004463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent brainstem auditory responses", "equivalent_identifiers": ["HP:0004463", "UMLS:C1836742"], "information_content": 100.0}
{"id": "MONDO:0010878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 6", "equivalent_identifiers": ["MONDO:0010878", "DOID:0110811", "OMIM:600363", "orphanet:100988", "UMLS:C1838192", "MESH:C536866", "SNOMEDCT:732949006", "medgen:324965"], "information_content": 100.0}
{"id": "HP:0002314", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Degeneration of the lateral corticospinal tracts", "equivalent_identifiers": ["HP:0002314", "UMLS:C1846566"], "information_content": 100.0}
{"id": "MONDO:0011711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific language impairment 2", "equivalent_identifiers": ["MONDO:0011711", "OMIM:606712", "UMLS:C1847605", "medgen:338273"], "information_content": 100.0}
{"id": "MONDO:0014668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4", "equivalent_identifiers": ["MONDO:0014668", "DOID:0080360", "OMIM:616501", "UMLS:C4225304", "medgen:905398"], "information_content": 100.0}
{"id": "MONDO:0030484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 89 and autoimmunity", "equivalent_identifiers": ["MONDO:0030484", "DOID:0061059", "OMIM:619632", "UMLS:C5562027", "medgen:1794237"], "information_content": 100.0}
{"id": "HP:0031944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pleural thickening", "equivalent_identifiers": ["HP:0031944", "UMLS:C0264545", "MEDDRA:10035616", "SNOMEDCT:73725006"], "information_content": 100.0}
{"id": "HP:0032446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary bulla", "equivalent_identifiers": ["HP:0032446", "UMLS:C0241982", "MEDDRA:10051688", "SNOMEDCT:1303092009", "SNOMEDCT:278976004"], "information_content": 100.0}
{"id": "HP:0034163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating interleukin 10 concentration", "equivalent_identifiers": ["HP:0034163", "UMLS:C5676758"], "information_content": 100.0}
{"id": "HP:0034174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating interleukin 27 concentration", "equivalent_identifiers": ["HP:0034174", "UMLS:C5676769"], "information_content": 100.0}
{"id": "HP:0034177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating interleukin 17A concentration", "equivalent_identifiers": ["HP:0034177", "UMLS:C5676772"], "information_content": 100.0}
{"id": "HP:0034165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating interleukin 21 concentration", "equivalent_identifiers": ["HP:0034165", "UMLS:C5676760"], "information_content": 100.0}
{"id": "HP:0034168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating interleukin 22 concentration", "equivalent_identifiers": ["HP:0034168", "UMLS:C5676763"], "information_content": 100.0}
{"id": "HP:0031891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased total eosinophil count", "equivalent_identifiers": ["HP:0031891", "UMLS:C0854104", "MEDDRA:10014943", "MEDDRA:10078866"], "information_content": 100.0}
{"id": "HP:0034171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating interleukin 23 concentration", "equivalent_identifiers": ["HP:0034171", "UMLS:C5676766"], "information_content": 100.0}
{"id": "MONDO:0007305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical vertebral dysplasia", "equivalent_identifiers": ["MONDO:0007305", "OMIM:118005", "UMLS:C1861693", "MESH:C566140", "medgen:396199", "HP:0008469"], "information_content": 100.0}
{"id": "HP:0005678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior atlanto-occipital dislocation", "equivalent_identifiers": ["HP:0005678", "UMLS:C4025157"], "information_content": 100.0}
{"id": "HP:0008461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical vertebral facet hypoplasia", "equivalent_identifiers": ["HP:0008461", "UMLS:C4024673"], "information_content": 100.0}
{"id": "MONDO:0009845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelviscapular dysplasia", "equivalent_identifiers": ["MONDO:0009845", "OMIM:260660", "orphanet:93333", "UMLS:C1850040", "MESH:C535550", "SNOMEDCT:719299009", "medgen:342400"], "information_content": 100.0}
{"id": "HP:0011266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microtia, first degree", "equivalent_identifiers": ["HP:0011266", "UMLS:C4021175"], "information_content": 100.0}
{"id": "HP:0006077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent proximal finger flexion creases", "equivalent_identifiers": ["HP:0006077", "UMLS:C1850048"], "information_content": 100.0}
{"id": "HP:0008488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior rounding of vertebral bodies", "equivalent_identifiers": ["HP:0008488", "UMLS:C1850043"], "information_content": 100.0}
{"id": "HP:0008472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large tailbone", "equivalent_identifiers": ["HP:0008472", "UMLS:C1850044", "UMLS:C4280412"], "information_content": 100.0}
{"id": "HP:0003027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesomelia", "equivalent_identifiers": ["HP:0003027", "UMLS:C0549306", "MEDDRA:10027404"], "information_content": 83.1}
{"id": "MONDO:0014005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunoglobulin-mediated membranoproliferative glomerulonephritis", "equivalent_identifiers": ["MONDO:0014005", "DOID:0080388", "OMIM:615008", "orphanet:329903", "UMLS:C0268742", "UMLS:C3554330", "NCIT:C123055", "SNOMEDCT:75888001", "medgen:767244"], "information_content": 95.4}
{"id": "MONDO:0001549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic-uremic syndrome", "equivalent_identifiers": ["MONDO:0001549", "DOID:12554", "orphanet:544458", "UMLS:C0019061", "MESH:D006463", "MEDDRA:10018932", "MEDDRA:10018933", "MEDDRA:10019515", "MEDDRA:10019516", "MEDDRA:10042814", "MEDDRA:10060422", "NCIT:C75545", "SNOMEDCT:111407006", "medgen:42403", "ICD10:D59.3", "ICD9:283.11", "HP:0005575"], "information_content": 81.3}
{"id": "MONDO:0013767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome type 4", "equivalent_identifiers": ["MONDO:0013767", "DOID:0110117", "OMIM:614470", "orphanet:268114", "UMLS:C2674723", "SNOMEDCT:723508002", "medgen:382434", "ICD10:D72.8"], "information_content": 100.0}
{"id": "HP:0002729", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Follicular hyperplasia", "equivalent_identifiers": ["HP:0002729", "NCIT:C97084", "UMLS:C4014733"], "information_content": 100.0}
{"id": "HP:0002731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased T cell apoptosis", "equivalent_identifiers": ["HP:0002731", "UMLS:C1858969"], "information_content": 95.4}
{"id": "MONDO:0012774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q13.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0012774", "DOID:0060394", "OMIM:612001", "orphanet:199318", "UMLS:C2677613", "MESH:C567439", "MEDDRA:10090652", "SNOMEDCT:699254009", "medgen:393784"], "information_content": 100.0}
{"id": "HP:0008050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the palpebral fissures", "equivalent_identifiers": ["HP:0008050", "UMLS:C4024750"], "information_content": 80.9}
{"id": "MONDO:0014557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia - oculomotor apraxia type 4", "equivalent_identifiers": ["MONDO:0014557", "DOID:0081383", "OMIM:616267", "orphanet:459033", "EFO:0009016", "UMLS:C4225397", "medgen:902323"], "information_content": 100.0}
{"id": "MONDO:0008055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thomsen disease", "equivalent_identifiers": ["MONDO:0008055", "DOID:0081336", "OMIM:160800", "UMLS:C0270959", "UMLS:C2936781", "MEDDRA:10043461", "SNOMEDCT:57938005", "SNOMEDCT:8960007", "medgen:422446"], "information_content": 100.0}
{"id": "HP:0003730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: myotonic runs", "equivalent_identifiers": ["HP:0003730", "UMLS:C4020837", "UMLS:C4025576"], "information_content": 100.0}
{"id": "HP:0003740", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotonia with warm-up phenomenon", "equivalent_identifiers": ["HP:0003740", "UMLS:C4025575"], "information_content": 100.0}
{"id": "HP:0002486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotonia", "equivalent_identifiers": ["HP:0002486", "UMLS:C0027125", "UMLS:C0700153", "MEDDRA:10028656", "MEDDRA:10061533", "SNOMEDCT:3434004", "MESH:D009222"], "information_content": 77.3}
{"id": "HP:0012899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Handgrip myotonia", "equivalent_identifiers": ["HP:0012899", "UMLS:C1868623"], "information_content": 100.0}
{"id": "HP:0025605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lid lag", "equivalent_identifiers": ["HP:0025605", "UMLS:C0234664", "UMLS:C0278217", "MEDDRA:10024443", "MEDDRA:10057893", "SNOMEDCT:89893000"], "information_content": 100.0}
{"id": "MONDO:0024530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bethlem myopathy 1A", "equivalent_identifiers": ["MONDO:0024530", "OMIM:158810"], "information_content": 100.0}
{"id": "HP:0033685", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fiber type grouping", "equivalent_identifiers": ["HP:0033685", "UMLS:C3277194"], "information_content": 100.0}
{"id": "HP:0012587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gross Hematuria", "equivalent_identifiers": ["HP:0012587", "NCIT:C114702", "UMLS:C0473237", "MEDDRA:10017332", "MEDDRA:10059802", "MEDDRA:10059823", "MEDDRA:10060539", "SNOMEDCT:197941005"], "information_content": 100.0}
{"id": "HP:0031910", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cranial nerve physiology", "equivalent_identifiers": ["HP:0031910", "UMLS:C4732756"], "information_content": 78.0}
{"id": "MONDO:0008583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited torticollis", "equivalent_identifiers": ["MONDO:0008583", "OMIM:189600", "UMLS:C0079352", "UMLS:C0549175", "MESH:C535425", "MEDDRA:10010650", "MEDDRA:10083212", "MEDDRA:10083213", "MEDDRA:10083214", "NCIT:C4811", "SNOMEDCT:1290967008", "SNOMEDCT:238865006", "SNOMEDCT:268240006", "SNOMEDCT:70070008", "medgen:11859", "HP:0005988"], "information_content": 100.0}
{"id": "MONDO:0021036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis pilaris", "equivalent_identifiers": ["MONDO:0021036", "UMLS:C0263383", "MEDDRA:10066295", "NCIT:C124070", "SNOMEDCT:5132005", "medgen:82664", "icd11.foundation:1614890502", "HP:0032152"], "information_content": 86.3}
{"id": "HP:0040129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nerve conduction velocity", "equivalent_identifiers": ["HP:0040129", "UMLS:C1866772"], "information_content": 86.3}
{"id": "MONDO:0012611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy", "equivalent_identifiers": ["MONDO:0012611", "DOID:0070511", "OMIM:611087", "orphanet:500533", "UMLS:C1970203", "MESH:C567020", "SNOMEDCT:1167371007", "medgen:370203"], "information_content": 100.0}
{"id": "HP:0012371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplasia of midface", "equivalent_identifiers": ["HP:0012371", "UMLS:C0240309"], "information_content": 100.0}
{"id": "MONDO:0007728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acne inversa, familial, 1", "equivalent_identifiers": ["MONDO:0007728", "OMIM:142690", "UMLS:C4551962", "medgen:1631104"], "information_content": 100.0}
{"id": "MONDO:0013459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 10", "equivalent_identifiers": ["MONDO:0013459", "DOID:0110346", "OMIM:613848", "UMLS:C3151211", "medgen:462561"], "information_content": 100.0}
{"id": "HP:0006528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic lung disease", "equivalent_identifiers": ["HP:0006528", "EFO:0009910", "NCIT:C98541", "UMLS:C0746102", "MEDDRA:10083002", "SNOMEDCT:413839001"], "information_content": 70.9}
{"id": "HP:0002953", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral compression fracture", "equivalent_identifiers": ["HP:0002953", "UMLS:C0262431", "UMLS:C0410550", "MEDDRA:10009921", "MEDDRA:10041541", "MEDDRA:10047332", "SNOMEDCT:42942008", "SNOMEDCT:84138006"], "information_content": 95.4}
{"id": "HP:0006640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple rib fractures", "equivalent_identifiers": ["HP:0006640", "UMLS:C0272567", "SNOMEDCT:1261007"], "information_content": 100.0}
{"id": "HP:0000586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shallow orbits", "equivalent_identifiers": ["HP:0000586", "UMLS:C1865244"], "information_content": 95.4}
{"id": "MONDO:0013369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 7", "equivalent_identifiers": ["MONDO:0013369", "DOID:0110313", "OMIM:613690", "UMLS:C1860752", "NCIT:C184989", "medgen:348695"], "information_content": 100.0}
{"id": "OMIM:614699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 7", "equivalent_identifiers": ["OMIM:614699", "UMLS:C3542922"]}
{"id": "HP:0041070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic partially decreased circulating IgG1", "equivalent_identifiers": ["HP:0041070", "UMLS:C5421701"], "information_content": 100.0}
{"id": "HP:0033050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pharyngalgia", "equivalent_identifiers": ["HP:0033050", "NCIT:C50747", "UMLS:C0242429", "UMLS:C3854543", "MEDDRA:10033481", "MEDDRA:10033494", "MEDDRA:10034851", "MEDDRA:10041367", "MEDDRA:10041368", "MEDDRA:10043523", "MEDDRA:10043524", "MEDDRA:10074930", "MEDDRA:10074931", "MEDDRA:10081115", "SNOMEDCT:162397003", "SNOMEDCT:267102003"], "information_content": 90.9}
{"id": "HP:0041059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic (near) absent circulating IgG4", "equivalent_identifiers": ["HP:0041059", "UMLS:C5421692"], "information_content": 100.0}
{"id": "HP:0012476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased specific pneumococcal antibody level", "equivalent_identifiers": ["HP:0012476", "UMLS:C4022890"], "information_content": 100.0}
{"id": "HP:0032132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating total IgG concentration", "equivalent_identifiers": ["HP:0032132", "UMLS:C5139151"], "information_content": 90.9}
{"id": "MONDO:0013914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 12 with or without anosmia", "equivalent_identifiers": ["MONDO:0013914", "DOID:0090072", "OMIM:614841", "UMLS:C1856897", "MESH:C535764", "medgen:347328"], "information_content": 100.0}
{"id": "HP:0030339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating gonadotropin concentration", "equivalent_identifiers": ["HP:0030339", "UMLS:C4072887"], "information_content": 90.9}
{"id": "MONDO:0024773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, X-linked, 4", "equivalent_identifiers": ["MONDO:0024773", "DOID:0070595", "OMIM:301077", "UMLS:C5676882", "medgen:1804024"], "information_content": 100.0}
{"id": "HP:0040086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal prolactin level", "equivalent_identifiers": ["HP:0040086", "UMLS:C4022448"], "information_content": 95.4}
{"id": "MONDO:0007800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 18p deletion syndrome", "equivalent_identifiers": ["MONDO:0007800", "DOID:0060406", "OMIM:146390", "orphanet:1598", "orphanet:261974", "UMLS:C0432442", "MESH:C538309", "NCIT:C84521", "SNOMEDCT:270890001", "medgen:96604", "icd11.foundation:121037615"], "information_content": 100.0}
{"id": "MONDO:0044304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphenylalaninemia due to DNAJC12 deficiency", "equivalent_identifiers": ["MONDO:0044304", "OMIM:617384", "orphanet:508523", "UMLS:C4479270", "NCIT:C159654", "medgen:1391882"], "information_content": 100.0}
{"id": "MONDO:0957875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal dominant 11", "equivalent_identifiers": ["MONDO:0957875", "DOID:0081400", "OMIM:620528", "UMLS:C5882697", "medgen:1849676"], "information_content": 100.0}
{"id": "HP:0012391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyporeflexia of upper limbs", "equivalent_identifiers": ["HP:0012391", "UMLS:C1836835"], "information_content": 90.9}
{"id": "HP:0033383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased compound muscle action potential amplitude", "equivalent_identifiers": ["HP:0033383", "UMLS:C4230625"], "information_content": 100.0}
{"id": "HP:0009129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb amyotrophy", "equivalent_identifiers": ["HP:0009129", "UMLS:C4021523"], "information_content": 89.4}
{"id": "HP:0012046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Areflexia of upper limbs", "equivalent_identifiers": ["HP:0012046", "UMLS:C2674177"], "information_content": 90.9}
{"id": "MONDO:0007949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marshall syndrome", "equivalent_identifiers": ["MONDO:0007949", "DOID:0111510", "OMIM:154780", "orphanet:560", "UMLS:C0265235", "MESH:C536025", "NCIT:C128115", "SNOMEDCT:33410002", "medgen:82694", "icd11.foundation:1401051186"], "information_content": 100.0}
{"id": "HP:0006407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular distal femoral epiphysis", "equivalent_identifiers": ["HP:0006407", "UMLS:C4025050"], "information_content": 100.0}
{"id": "HP:0100250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meningeal calcification", "equivalent_identifiers": ["HP:0100250", "UMLS:C4022181"], "information_content": 100.0}
{"id": "HP:0006095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide tufts of distal phalanges", "equivalent_identifiers": ["HP:0006095", "UMLS:C1835101"], "information_content": 100.0}
{"id": "HP:0006456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular proximal tibial epiphyses", "equivalent_identifiers": ["HP:0006456", "UMLS:C4025045"], "information_content": 100.0}
{"id": "HP:0000675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrodontia of permanent maxillary central incisor", "equivalent_identifiers": ["HP:0000675", "UMLS:C1835095", "UMLS:C4280263", "UMLS:C4280620", "UMLS:C4280621"], "information_content": 100.0}
{"id": "HP:0005462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcification of falx cerebri", "equivalent_identifiers": ["HP:0005462", "UMLS:C1397139"], "information_content": 100.0}
{"id": "MONDO:0005416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoarthritis, knee", "equivalent_identifiers": ["MONDO:0005416", "EFO:0004616", "UMLS:C0409959", "MESH:D020370", "MEDDRA:10023476", "MEDDRA:10029877", "MEDDRA:10031158", "MEDDRA:10031165", "MEDDRA:10031166", "medgen:98371", "HP:0005086"], "information_content": 100.0}
{"id": "HP:0040025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 4th finger", "equivalent_identifiers": ["HP:0040025", "UMLS:C4022484", "UMLS:C4280295"], "information_content": 100.0}
{"id": "HP:0025707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic fetal nasal bone", "equivalent_identifiers": ["HP:0025707", "UMLS:C5676634"], "information_content": 100.0}
{"id": "HP:0006361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular femoral epiphysis", "equivalent_identifiers": ["HP:0006361", "UMLS:C1850658"], "information_content": 92.8}
{"id": "HP:0012283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small distal femoral epiphysis", "equivalent_identifiers": ["HP:0012283", "UMLS:C4022970"], "information_content": 100.0}
{"id": "HP:0012284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small proximal tibial epiphyses", "equivalent_identifiers": ["HP:0012284", "UMLS:C4022969"], "information_content": 100.0}
{"id": "HP:0002688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent frontal sinuses", "equivalent_identifiers": ["HP:0002688", "UMLS:C1855669", "UMLS:C4280559", "MEDDRA:10088397"], "information_content": 100.0}
{"id": "MONDO:0014268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to OX40 deficiency", "equivalent_identifiers": ["MONDO:0014268", "DOID:0111935", "OMIM:615593", "orphanet:431149", "UMLS:C3810053", "UMLS:C4707864", "SNOMEDCT:766879006", "medgen:816383"], "information_content": 100.0}
{"id": "MONDO:0005055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kaposi Sarcoma", "equivalent_identifiers": ["MONDO:0005055", "DOID:8632", "orphanet:33276", "EFO:0000558", "UMLS:C0036220", "UMLS:C0153560", "UMLS:C0153561", "UMLS:C0153562", "UMLS:C0153563", "UMLS:C0153564", "UMLS:C0153565", "UMLS:C0276535", "UMLS:C0346935", "UMLS:C0346936", "UMLS:C1332265", "UMLS:C1332847", "UMLS:C1333453", "UMLS:C1333744", "UMLS:C1333776", "UMLS:C1334318", "UMLS:C1334457", "UMLS:C1335372", "UMLS:C1335509", "MESH:C554498", "MESH:D012514", "MEDDRA:10023284", "MEDDRA:10023285", "MEDDRA:10023286", "MEDDRA:10023289", "MEDDRA:10023290", "MEDDRA:10023291", "MEDDRA:10023292", "MEDDRA:10023293", "MEDDRA:10023295", "MEDDRA:10023296", "MEDDRA:10023297", "MEDDRA:10023298", "MEDDRA:10028220", "MEDDRA:10028221", "MEDDRA:10028222", "MEDDRA:10055863", "NCIT:C194225", "NCIT:C27500", "NCIT:C3550", "NCIT:C3551", "NCIT:C3992", "NCIT:C4578", "NCIT:C4579", "NCIT:C5363", "NCIT:C5523", "NCIT:C5529", "NCIT:C5602", "NCIT:C5706", "NCIT:C5842", "NCIT:C6377", "NCIT:C6749", "NCIT:C7006", "NCIT:C9087", "SNOMEDCT:109385007", "SNOMEDCT:109386008", "SNOMEDCT:109388009", "SNOMEDCT:109390005", "SNOMEDCT:109391009", "SNOMEDCT:1179374007", "SNOMEDCT:188029000", "SNOMEDCT:255114007", "SNOMEDCT:255115008", "SNOMEDCT:420524008", "SNOMEDCT:49937004", "medgen:11321", "ICD10:C46", "ICD10:C46.0", "ICD10:C46.1", "ICD10:C46.2", "ICD10:C46.3", "ICD10:C46.4", "ICD10:C46.5", "ICD9:176", "ICD9:176.0", "ICD9:176.1", "ICD9:176.2", "ICD9:176.3", "ICD9:176.4", "ICD9:176.5", "HP:0100726"], "information_content": 73.8}
{"id": "HP:0004844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coombs-positive hemolytic anemia", "equivalent_identifiers": ["HP:0004844", "UMLS:C0520736", "MEDDRA:10010941", "MEDDRA:10055204", "SNOMEDCT:74789008"], "information_content": 100.0}
{"id": "MONDO:0013364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "equivalent_identifiers": ["MONDO:0013364", "OMIM:613684", "orphanet:353284", "UMLS:C3150941", "NCIT:C153291", "medgen:462291"], "information_content": 100.0}
{"id": "HP:0011917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 5th toe", "equivalent_identifiers": ["HP:0011917", "UMLS:C4021111"], "information_content": 100.0}
{"id": "HP:0010105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short first metatarsal", "equivalent_identifiers": ["HP:0010105", "UMLS:C1841688"], "information_content": 100.0}
{"id": "MONDO:0007430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dens evaginatus", "equivalent_identifiers": ["MONDO:0007430", "OMIM:125280", "UMLS:C0266034", "UMLS:C0399357", "UMLS:C4280335", "MEDDRA:10088213", "MEDDRA:10088242", "SNOMEDCT:234955005", "SNOMEDCT:63691004", "medgen:78585", "icd11.foundation:474468588", "HP:0011087"], "information_content": 100.0}
{"id": "HP:0008523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior helix pit", "equivalent_identifiers": ["HP:0008523", "UMLS:C4021539"], "information_content": 100.0}
{"id": "MONDO:0014836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2CC", "equivalent_identifiers": ["MONDO:0014836", "DOID:0110180", "OMIM:616924", "UMLS:C4310790", "medgen:934757"], "information_content": 100.0}
{"id": "HP:0003445", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: neuropathic changes", "equivalent_identifiers": ["HP:0003445", "UMLS:C4021727"], "information_content": 95.4}
{"id": "HP:0004886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital laryngeal stridor", "equivalent_identifiers": ["HP:0004886", "UMLS:C0265763", "MEDDRA:10010527", "SNOMEDCT:55490007"], "information_content": 100.0}
{"id": "MONDO:0002567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheal disorder", "equivalent_identifiers": ["MONDO:0002567", "DOID:3225", "UMLS:C0040580", "UMLS:C4025678", "MESH:D014133", "MEDDRA:10053490", "NCIT:C35079", "SNOMEDCT:47125007", "medgen:892789", "ICD10:S12.8", "HP:0002778"], "information_content": 75.3}
{"id": "MONDO:0976263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language", "equivalent_identifiers": ["MONDO:0976263", "OMIM:621150"], "information_content": 100.0}
{"id": "HP:0025373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interictal EEG abnormality", "equivalent_identifiers": ["HP:0025373", "UMLS:C4476738"], "information_content": 72.2}
{"id": "MONDO:0011915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitral valve prolapse, myxomatous 2", "equivalent_identifiers": ["MONDO:0011915", "OMIM:607829", "UMLS:C1843003", "MESH:C564326", "medgen:335856"], "information_content": 100.0}
{"id": "MONDO:0012615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 7", "equivalent_identifiers": ["MONDO:0012615", "DOID:0081183", "OMIM:611093", "UMLS:C1970197", "MESH:C567016", "medgen:370847"], "information_content": 100.0}
{"id": "MONDO:0013475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 18", "equivalent_identifiers": ["MONDO:0013475", "DOID:0110324", "OMIM:613874", "UMLS:C3151265", "medgen:462615"], "information_content": 100.0}
{"id": "MONDO:0010324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 81", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010324", "DOID:0112033", "OMIM:300433", "UMLS:C1845531", "MESH:C564515", "medgen:335203"], "information_content": 100.0}
{"id": "MONDO:0012212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome 1", "equivalent_identifiers": ["MONDO:0012212", "DOID:0070235", "OMIM:609192", "UMLS:C1836635", "UMLS:C2674127", "UMLS:C2697933", "UMLS:C2931764", "UMLS:C4551955", "MESH:C538192", "MESH:C567156", "NCIT:C75119", "medgen:1646567"], "information_content": 100.0}
{"id": "HP:0410151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophilic infiltration of the esophagus", "equivalent_identifiers": ["HP:0410151", "UMLS:C4703646"], "information_content": 100.0}
{"id": "HP:0004959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Descending thoracic aorta aneurysm", "equivalent_identifiers": ["HP:0004959", "UMLS:C1388233", "UMLS:C4025266", "SNOMEDCT:2831000119107", "MESH:D000094627"], "information_content": 92.8}
{"id": "HP:0005182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bicuspid pulmonary valve", "equivalent_identifiers": ["HP:0005182", "UMLS:C0344987", "MEDDRA:10063730", "SNOMEDCT:253599005"], "information_content": 95.4}
{"id": "HP:0030745", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilatation of the ductus arteriosus", "equivalent_identifiers": ["HP:0030745", "UMLS:C0398357", "UMLS:C4476845", "SNOMEDCT:233990006"], "information_content": 100.0}
{"id": "HP:0100775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dural ectasia", "equivalent_identifiers": ["HP:0100775", "UMLS:C1851712", "MEDDRA:10089442"], "information_content": 100.0}
{"id": "HP:0005116", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arterial tortuosity", "equivalent_identifiers": ["HP:0005116", "UMLS:C3279191"], "information_content": 86.3}
{"id": "HP:0009004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the musculature", "equivalent_identifiers": ["HP:0009004", "UMLS:C0240414", "SNOMEDCT:205530002"], "information_content": 79.6}
{"id": "HP:0004933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ascending aortic dissection", "equivalent_identifiers": ["HP:0004933", "UMLS:C0578575", "UMLS:C1836653", "MEDDRA:10070427", "MEDDRA:10077136", "SNOMEDCT:301899003", "MESH:D000094630"], "information_content": 100.0}
{"id": "HP:0034720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Self-healing squamous epithelioma", "equivalent_identifiers": ["HP:0034720", "UMLS:C5826612"], "information_content": 100.0}
{"id": "HP:0001519", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disproportionate tall stature", "equivalent_identifiers": ["HP:0001519", "UMLS:C1836996", "MEDDRA:10087588"], "information_content": 100.0}
{"id": "MONDO:0010941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nocturnal enuresis, 2", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0010941", "OMIM:600808", "UMLS:C1833268", "MESH:C563439", "medgen:331473"], "information_content": 100.0}
{"id": "MONDO:0030308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 82 with systemic inflammation", "equivalent_identifiers": ["MONDO:0030308", "DOID:0061053", "OMIM:619381", "UMLS:C5543581", "medgen:1781752"], "information_content": 100.0}
{"id": "MONDO:0004095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B-cell neoplasm", "equivalent_identifiers": ["MONDO:0004095", "DOID:707", "UMLS:C0079731", "UMLS:C5975716", "MESH:D016393", "MEDDRA:10003899", "MEDDRA:10003901", "MEDDRA:10025320", "MEDDRA:10084346", "NCIT:C27907", "SNOMEDCT:109979007", "SNOMEDCT:413616009", "medgen:86953", "HP:0012191"], "information_content": 54.2}
{"id": "MONDO:0004966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastritis", "equivalent_identifiers": ["MONDO:0004966", "DOID:4029", "EFO:0000217", "UMLS:C0017152", "MESH:D005756", "MEDDRA:10017790", "MEDDRA:10017853", "MEDDRA:10017869", "MEDDRA:10021967", "MEDDRA:10042110", "MEDDRA:10078716", "NCIT:C26780", "SNOMEDCT:4556007", "medgen:4843", "icd11.foundation:1871672644", "ICD10:K29.7", "HP:0005263"], "information_content": 78.5}
{"id": "MONDO:0003781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchitis", "equivalent_identifiers": ["MONDO:0003781", "DOID:6132", "EFO:0009661", "UMLS:C0006277", "MESH:D001991", "MEDDRA:10006451", "MEDDRA:10006461", "NCIT:C2911", "SNOMEDCT:32398004", "medgen:2736", "icd11.foundation:11753425", "ICD10:J20", "ICD10:J40", "ICD10:J42", "ICD9:466.0", "ICD9:490", "ICD9:491", "HP:0012387"], "information_content": 86.3}
{"id": "HP:0033628", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowel irritability", "equivalent_identifiers": ["HP:0033628", "UMLS:C1405426"], "information_content": 100.0}
{"id": "HP:6000257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal cord granuloma", "equivalent_identifiers": ["HP:6000257", "UMLS:C5937075"], "information_content": 100.0}
{"id": "HP:0002041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intractable diarrhea", "equivalent_identifiers": ["HP:0002041", "UMLS:C0743178"], "information_content": 100.0}
{"id": "HP:0003460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating total IgA", "equivalent_identifiers": ["HP:0003460", "UMLS:C4025611"], "information_content": 100.0}
{"id": "HP:0002722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent abscess formation", "equivalent_identifiers": ["HP:0002722", "UMLS:C4025684"], "information_content": 95.4}
{"id": "MONDO:0957594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 87", "equivalent_identifiers": ["MONDO:0957594", "DOID:0070586", "OMIM:620500", "UMLS:C5882687", "medgen:1852637"], "information_content": 100.0}
{"id": "HP:6000501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ruffled acrosome", "equivalent_identifiers": ["HP:6000501", "UMLS:C5563270"], "information_content": 100.0}
{"id": "MONDO:0010307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 73", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010307", "DOID:0112017", "OMIM:300355", "UMLS:C1845860", "MESH:C564528", "medgen:335293"], "information_content": 100.0}
{"id": "MONDO:0010749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigonocephaly-short stature-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0010749", "OMIM:314320", "orphanet:3369", "UMLS:C1839125", "MESH:C536620", "SNOMEDCT:733066002", "medgen:374138"], "information_content": 100.0}
{"id": "HP:0005494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature posterior fontanelle closure", "equivalent_identifiers": ["HP:0005494", "UMLS:C1839126"], "information_content": 100.0}
{"id": "MONDO:0013935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1J", "equivalent_identifiers": ["MONDO:0013935", "DOID:0110836", "OMIM:614869", "UMLS:C3553944", "medgen:766858"], "information_content": 100.0}
{"id": "MONDO:0009448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iminoglycinuria", "equivalent_identifiers": ["MONDO:0009448", "DOID:0112265", "OMIM:242600", "orphanet:42062", "UMLS:C0268654", "MESH:C536285", "SNOMEDCT:84121007", "medgen:124342", "icd11.foundation:664428532"], "information_content": 100.0}
{"id": "MONDO:0957790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immune dysregulation, autoimmunity, and autoinflammation", "equivalent_identifiers": ["MONDO:0957790", "OMIM:620514", "UMLS:C5848750", "medgen:1847968"], "information_content": 100.0}
{"id": "HP:0025289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical lymphadenopathy", "equivalent_identifiers": ["HP:0025289", "NCIT:C40989", "UMLS:C0235592", "UMLS:C4551446", "MEDDRA:10025200", "SNOMEDCT:127086001"], "information_content": 83.6}
{"id": "HP:0045042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement C4 concentration", "equivalent_identifiers": ["HP:0045042", "UMLS:C4073169"], "information_content": 92.8}
{"id": "HP:0032436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating C-reactive protein concentration", "equivalent_identifiers": ["HP:0032436", "UMLS:C5139346"], "information_content": 92.8}
{"id": "HP:0034751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inguinal lymphadenopathy", "equivalent_identifiers": ["HP:0034751", "UMLS:C0578736", "MEDDRA:10025203", "MEDDRA:10081967", "SNOMEDCT:127199000"], "information_content": 100.0}
{"id": "HP:0033178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating interleukin 8 concentration", "equivalent_identifiers": ["HP:0033178", "UMLS:C5421665"], "information_content": 100.0}
{"id": "MONDO:0030066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, autosomal recessive, 5", "equivalent_identifiers": ["MONDO:0030066", "DOID:0070368", "OMIM:618935", "UMLS:C5394542", "medgen:1710326"], "information_content": 100.0}
{"id": "MONDO:0002052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphadenitis", "equivalent_identifiers": ["MONDO:0002052", "DOID:1602", "UMLS:C0024205", "UMLS:C0154304", "UMLS:C0157705", "MESH:D008199", "MEDDRA:10000841", "MEDDRA:10008955", "MEDDRA:10025188", "MEDDRA:10025189", "MEDDRA:10025191", "MEDDRA:10025192", "MEDDRA:10050823", "MEDDRA:10085676", "NCIT:C26821", "NCIT:C26966", "NCIT:C26978", "SNOMEDCT:19471005", "SNOMEDCT:32035007", "SNOMEDCT:41174002", "medgen:7410", "icd11.foundation:1483611415", "ICD10:I88.1", "ICD10:L04", "ICD9:289.1", "ICD9:683", "HP:0002840"], "information_content": 82.6}
{"id": "HP:0012390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anal fissure", "equivalent_identifiers": ["HP:0012390", "NCIT:C79536", "UMLS:C0016167", "UMLS:C1868850", "UMLS:C2939444", "UMLS:C4759657", "MEDDRA:10002153", "MEDDRA:10002180", "MEDDRA:10016712", "MEDDRA:10016713", "MEDDRA:10045286", "MEDDRA:10045350", "MEDDRA:10067272", "SNOMEDCT:20928004", "SNOMEDCT:30037006", "MESH:D005401"], "information_content": 100.0}
{"id": "HP:0003203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased neutrophil oxidative burst", "equivalent_identifiers": ["HP:0003203", "UMLS:C4280805"], "information_content": 100.0}
{"id": "MONDO:0006515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute pancreatitis", "equivalent_identifiers": ["MONDO:0006515", "DOID:2913", "EFO:1000652", "UMLS:C0001339", "MEDDRA:10000971", "MEDDRA:10033647", "NCIT:C95437", "SNOMEDCT:197456007", "SNOMEDCT:7881005", "medgen:7872", "icd11.foundation:698285441", "ICD10:K85", "ICD9:577.0", "HP:0001735"], "information_content": 75.5}
{"id": "MONDO:0013467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency due to ficolin3 deficiency", "equivalent_identifiers": ["MONDO:0013467", "OMIM:613860", "orphanet:331190", "UMLS:C3151226", "UMLS:C4707940", "SNOMEDCT:766705006", "medgen:462576"], "information_content": 100.0}
{"id": "MONDO:0005313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "necrotizing enterocolitis", "equivalent_identifiers": ["MONDO:0005313", "orphanet:391673", "EFO:0003928", "UMLS:C0520459", "MESH:D020345", "MEDDRA:10014899", "MEDDRA:10028884", "MEDDRA:10055642", "MEDDRA:10055646", "NCIT:C84915", "SNOMEDCT:2707005", "medgen:105440", "icd11.foundation:141267925", "HP:0033165"], "information_content": 92.8}
{"id": "MONDO:0009518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leprosy, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0009518", "OMIM:246300", "UMLS:C1968668", "medgen:368500"], "information_content": 100.0}
{"id": "MONDO:0014087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smith-McCort dysplasia 2", "equivalent_identifiers": ["MONDO:0014087", "DOID:0081271", "OMIM:615222", "UMLS:C3714896", "medgen:811489"], "information_content": 100.0}
{"id": "HP:0006009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad phalanx", "equivalent_identifiers": ["HP:0006009", "UMLS:C1855185"], "information_content": 73.7}
{"id": "HP:0012428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent calcaneus", "equivalent_identifiers": ["HP:0012428", "UMLS:C4021088"], "information_content": 100.0}
{"id": "HP:0008812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened femoral head", "equivalent_identifiers": ["HP:0008812", "UMLS:C1860601"], "information_content": 100.0}
{"id": "MONDO:0030375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2", "equivalent_identifiers": ["MONDO:0030375", "OMIM:619418", "UMLS:C5543623", "medgen:1778117"], "information_content": 100.0}
{"id": "MONDO:0009060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic disease of lung", "equivalent_identifiers": ["MONDO:0009060", "OMIM:219600", "UMLS:C0555214", "UMLS:C1384901", "MESH:C563237", "MEDDRA:10078811", "SNOMEDCT:275505006", "medgen:640840", "HP:0005948"], "information_content": 87.2}
{"id": "HP:0001747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accessory spleen", "equivalent_identifiers": ["HP:0001747", "UMLS:C0266631", "MEDDRA:10068059", "MEDDRA:10074948", "MEDDRA:10089986", "SNOMEDCT:10362008"], "information_content": 100.0}
{"id": "HP:0006577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macronodular cirrhosis", "equivalent_identifiers": ["HP:0006577", "UMLS:C0400946", "UMLS:C2004456", "MEDDRA:10009212", "MEDDRA:10019643", "MEDDRA:10057223", "SNOMEDCT:266469006", "SNOMEDCT:43904005", "SNOMEDCT:86454000"], "information_content": 100.0}
{"id": "MONDO:0011874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal ichthyosis-sclerosing cholangitis syndrome", "equivalent_identifiers": ["MONDO:0011874", "OMIM:607626", "orphanet:59303", "UMLS:C1843355", "MESH:C564365", "SNOMEDCT:724278007", "medgen:334382"], "information_content": 100.0}
{"id": "MONDO:0018646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sclerosing cholangitis", "equivalent_identifiers": ["MONDO:0018646", "DOID:14268", "orphanet:447771", "EFO:0004268", "UMLS:C0008313", "MESH:D015209", "MEDDRA:10008609", "MEDDRA:10039717", "NCIT:C4828", "SNOMEDCT:235917005", "medgen:3036", "ICD10:K83.09", "HP:0030991"], "information_content": 87.2}
{"id": "MONDO:0054573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lopes-Maciel-Rodan syndrome", "equivalent_identifiers": ["MONDO:0054573", "OMIM:617435", "EFO:0009904", "UMLS:C4479491", "medgen:1379711"], "information_content": 100.0}
{"id": "HP:0002340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caudate atrophy", "equivalent_identifiers": ["HP:0002340", "UMLS:C1858116"], "information_content": 100.0}
{"id": "MONDO:0060745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with or without epilepsy or cerebellar ataxia", "equivalent_identifiers": ["MONDO:0060745", "OMIM:618060", "UMLS:C4748041", "medgen:1648354"], "information_content": 100.0}
{"id": "MONDO:0001156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "borderline personality disorder", "equivalent_identifiers": ["MONDO:0001156", "DOID:10930", "UMLS:C0006012", "UMLS:C0338970", "MESH:D001883", "MEDDRA:10006033", "MEDDRA:10006034", "MEDDRA:10079255", "NCIT:C92633", "SNOMEDCT:191765005", "SNOMEDCT:20010003", "medgen:14197", "icd11.foundation:189289487", "ICD10:F60.3", "ICD9:301.83", "HP:0012076"], "information_content": 100.0}
{"id": "HP:0006879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pontocerebellar atrophy", "equivalent_identifiers": ["HP:0006879", "UMLS:C1853766"], "information_content": 100.0}
{"id": "HP:0025097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eyelid myoclonus", "equivalent_identifiers": ["HP:0025097", "UMLS:C0751349", "MEDDRA:10076060"], "information_content": 100.0}
{"id": "MONDO:0012720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Krabbe disease due to saposin A deficiency", "equivalent_identifiers": ["MONDO:0012720", "OMIM:611722", "UMLS:C2673266", "MESH:C567097", "SNOMEDCT:1296731001", "medgen:392873"], "information_content": 100.0}
{"id": "MONDO:0014240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular nodular heterotopia 6", "equivalent_identifiers": ["MONDO:0014240", "OMIM:615544", "UMLS:C3809872", "medgen:816202"], "information_content": 100.0}
{"id": "MONDO:0013948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 10A (Zellweger)", "equivalent_identifiers": ["MONDO:0013948", "DOID:0080484", "OMIM:614882", "UMLS:C1864171", "UMLS:C1864172", "UMLS:C3553999", "MESH:C566405", "MESH:C566406", "medgen:766913"], "information_content": 100.0}
{"id": "HP:0008935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized neonatal hypotonia", "equivalent_identifiers": ["HP:0008935", "UMLS:C1845123"], "information_content": 100.0}
{"id": "MONDO:0054835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic dopamine transporter deficiency syndrome", "equivalent_identifiers": ["MONDO:0054835", "DOID:0070489", "OMIM:613135", "UMLS:C5700336", "NCIT:C129866", "SNOMEDCT:722763000", "medgen:1814585"], "information_content": 100.0}
{"id": "HP:0034201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF homovanillic acid concentration", "equivalent_identifiers": ["HP:0034201", "UMLS:C5676789"], "information_content": 100.0}
{"id": "HP:0002396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cogwheel rigidity", "equivalent_identifiers": ["HP:0002396", "NCIT:C182451", "UMLS:C0151564", "MEDDRA:10009848", "MEDDRA:10039170", "SNOMEDCT:55630000"], "information_content": 100.0}
{"id": "HP:0031931", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ocular flutter", "equivalent_identifiers": ["HP:0031931", "UMLS:C0234650", "SNOMEDCT:33466002"], "information_content": 100.0}
{"id": "MONDO:0014245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 12", "equivalent_identifiers": ["MONDO:0014245", "DOID:0111882", "OMIM:615550", "UMLS:C3809888", "medgen:816218"], "information_content": 100.0}
{"id": "MONDO:0013960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sinoatrial node dysfunction and deafness", "equivalent_identifiers": ["MONDO:0013960", "OMIM:614896", "orphanet:324321", "UMLS:C3554018", "SNOMEDCT:770784003", "medgen:766932"], "information_content": 100.0}
{"id": "HP:0031862", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased heart rate variability", "equivalent_identifiers": ["HP:0031862", "UMLS:C4703581", "MEDDRA:10082110"], "information_content": 100.0}
{"id": "HP:0025074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal QRS complex", "equivalent_identifiers": ["HP:0025074", "UMLS:C4476580"], "information_content": 88.2}
{"id": "MONDO:0007590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemifacial hypertrophy", "equivalent_identifiers": ["MONDO:0007590", "OMIM:133900", "orphanet:141145", "UMLS:C1399354", "MESH:C563014", "SNOMEDCT:697962004", "medgen:452987", "icd11.foundation:2090544963", "HP:0005323"], "information_content": 100.0}
{"id": "MONDO:0054846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 6", "equivalent_identifiers": ["MONDO:0054846", "DOID:0111696", "OMIM:618074", "UMLS:C4748079", "medgen:1648448"], "information_content": 100.0}
{"id": "MONDO:0014478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mirror movements 3", "equivalent_identifiers": ["MONDO:0014478", "OMIM:616059", "UMLS:C4015124", "medgen:863561"], "information_content": 100.0}
{"id": "MONDO:0009867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital glycogen storage disease of heart", "equivalent_identifiers": ["MONDO:0009867", "DOID:0090101", "OMIM:261740", "orphanet:439854", "UMLS:C1849813", "MESH:C564888", "SNOMEDCT:1230303001", "medgen:337919", "ICD10:E74.0", "ICD10:G73.6"], "information_content": 100.0}
{"id": "HP:0034532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased myocardial glycogen content", "equivalent_identifiers": ["HP:0034532", "UMLS:C5826455"], "information_content": 100.0}
{"id": "HP:0033568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left axis deviation", "equivalent_identifiers": ["HP:0033568", "NCIT:C71094", "UMLS:C0232297", "MEDDRA:10037687", "SNOMEDCT:39732003"], "information_content": 100.0}
{"id": "HP:0012398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Edema Limbs", "equivalent_identifiers": ["HP:0012398", "NCIT:C78262", "UMLS:C0085649", "MEDDRA:10014220", "MEDDRA:10014236", "MEDDRA:10014251", "MEDDRA:10030115", "MEDDRA:10030124", "MEDDRA:10034570", "MEDDRA:10034611", "MEDDRA:10050068", "MEDDRA:10055917", "MEDDRA:10060442", "SNOMEDCT:271809000", "SNOMEDCT:424372002", "SNOMEDCT:82014009"], "information_content": 92.8}
{"id": "HP:0010872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inverted T wave", "equivalent_identifiers": ["HP:0010872", "NCIT:C71085", "UMLS:C0520888", "MEDDRA:10014395", "MEDDRA:10022886", "MEDDRA:10042963", "MEDDRA:10042966", "MEDDRA:10042967", "MEDDRA:10042968", "MEDDRA:10058100", "SNOMEDCT:59931005"], "information_content": 95.4}
{"id": "MONDO:0006932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary edema", "equivalent_identifiers": ["MONDO:0006932", "DOID:11396", "EFO:1001134", "UMLS:C0034063", "MESH:D011654", "MEDDRA:10014233", "MEDDRA:10014253", "MEDDRA:10025084", "MEDDRA:10025112", "MEDDRA:10030126", "MEDDRA:10037375", "MEDDRA:10037423", "MEDDRA:10037424", "MEDDRA:10037426", "MEDDRA:10055929", "NCIT:C26868", "SNOMEDCT:19242006", "medgen:11026", "ICD10:J81", "HP:0100598"], "information_content": 92.8}
{"id": "MONDO:0013587", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to lactate dehydrogenase H-subunit deficiency", "equivalent_identifiers": ["MONDO:0013587", "OMIM:614128", "orphanet:284435", "UMLS:C3279904", "UMLS:C4477051", "MESH:C563641", "medgen:481534", "HP:0045041"], "information_content": 100.0}
{"id": "MONDO:0013342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 48", "equivalent_identifiers": ["MONDO:0013342", "DOID:0110800", "OMIM:613647", "orphanet:306511", "UMLS:C3150901", "SNOMEDCT:763367009", "medgen:462251"], "information_content": 100.0}
{"id": "HP:0030891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periventricular white matter hyperintensities", "equivalent_identifiers": ["HP:0030891", "UMLS:C4293686"], "information_content": 92.8}
{"id": "MONDO:0014096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WOODS SYNDROME", "equivalent_identifiers": ["MONDO:0014096", "OMIM:615236", "UMLS:C0796203", "SNOMEDCT:719396000", "medgen:490089"], "information_content": 100.0}
{"id": "HP:0011937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic fifth toenail", "equivalent_identifiers": ["HP:0011937", "UMLS:C4023116"], "information_content": 100.0}
{"id": "HP:0011335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal hirsutism", "equivalent_identifiers": ["HP:0011335", "UMLS:C1839830"], "information_content": 100.0}
{"id": "MONDO:0859168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy", "equivalent_identifiers": ["MONDO:0859168", "DOID:0051044", "OMIM:619424", "UMLS:C5561937", "medgen:1794147"], "information_content": 100.0}
{"id": "HP:0001685", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myocardial fibrosis", "equivalent_identifiers": ["HP:0001685", "NCIT:C178564", "UMLS:C0151654", "MEDDRA:10016653", "MEDDRA:10028594"], "information_content": 92.8}
{"id": "HP:0003755", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type 1 fibers relatively smaller than type 2 fibers", "equivalent_identifiers": ["HP:0003755", "UMLS:C4025571"], "information_content": 100.0}
{"id": "MONDO:0012322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 5", "equivalent_identifiers": ["MONDO:0012322", "DOID:0110878", "OMIM:609637", "UMLS:C1864827", "MESH:C566464", "NCIT:C75460", "medgen:355304"], "information_content": 100.0}
{"id": "MONDO:0019756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lobar holoprosencephaly", "equivalent_identifiers": ["MONDO:0019756", "orphanet:93924", "UMLS:C0431362", "SNOMEDCT:253136007", "medgen:96559", "icd11.foundation:121649206", "HP:0006870"], "information_content": 92.8}
{"id": "HP:0032549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent asymmetrical tonic neck reflex", "equivalent_identifiers": ["HP:0032549", "UMLS:C5209285"], "information_content": 100.0}
{"id": "HP:0025670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Syntelencephaly", "equivalent_identifiers": ["HP:0025670", "UMLS:C5396362", "SNOMEDCT:866053004"], "information_content": 100.0}
{"id": "HP:0002507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Semilobar holoprosencephaly", "equivalent_identifiers": ["HP:0002507", "UMLS:C0751617", "SNOMEDCT:253138008"], "information_content": 100.0}
{"id": "MONDO:0015790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central diabetes insipidus", "equivalent_identifiers": ["MONDO:0015790", "DOID:0081055", "orphanet:178029", "UMLS:C0687720", "MESH:D020790", "MEDDRA:10049518", "MEDDRA:10068587", "MEDDRA:10073192", "MEDDRA:10078568", "medgen:146919", "icd11.foundation:1009553897", "HP:0000863"], "information_content": 92.8}
{"id": "MONDO:0007153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteries, anomalies of", "equivalent_identifiers": ["MONDO:0007153", "OMIM:108000", "UMLS:C1876179", "medgen:360295"], "information_content": 100.0}
{"id": "MONDO:0010839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal dominant 8", "equivalent_identifiers": ["MONDO:0010839", "DOID:0111215", "OMIM:600175", "orphanet:1216", "UMLS:C1838492", "MESH:C563981", "SNOMEDCT:763067000", "medgen:373984"], "information_content": 100.0}
{"id": "HP:0008964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonprogressive muscular atrophy", "equivalent_identifiers": ["HP:0008964", "UMLS:C4024611"], "information_content": 100.0}
{"id": "HP:0008956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal lower limb amyotrophy", "equivalent_identifiers": ["HP:0008956", "UMLS:C1836767"], "information_content": 92.8}
{"id": "MONDO:0008662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant vitreoretinochoroidopathy", "equivalent_identifiers": ["MONDO:0008662", "DOID:0111569", "OMIM:193220", "orphanet:3086", "UMLS:C3888099", "MESH:C536352", "SNOMEDCT:711162004", "medgen:854768", "icd11.foundation:96951767"], "information_content": 100.0}
{"id": "MONDO:0001801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "staphyloma posticum", "equivalent_identifiers": ["MONDO:0001801", "DOID:13789", "UMLS:C0155360", "MEDDRA:10041952", "SNOMEDCT:87819007", "medgen:509934", "icd11.foundation:382453603", "ICD10:H15.83", "ICD9:379.12", "HP:0030856"], "information_content": 100.0}
{"id": "HP:0008043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal arteriolar constriction", "equivalent_identifiers": ["HP:0008043", "UMLS:C2176208"], "information_content": 100.0}
{"id": "HP:0007661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of chorioretinal pigmentation", "equivalent_identifiers": ["HP:0007661", "UMLS:C4024819"], "information_content": 92.8}
{"id": "HP:0007985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal arteriolar occlusion", "equivalent_identifiers": ["HP:0007985", "UMLS:C4024761"], "information_content": 100.0}
{"id": "MONDO:0044310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 17", "equivalent_identifiers": ["MONDO:0044310", "DOID:0111880", "OMIM:617409", "UMLS:C4479428", "medgen:1373199"], "information_content": 100.0}
{"id": "MONDO:0013574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa - Marfanoid syndrome", "equivalent_identifiers": ["MONDO:0013574", "OMIM:614100", "orphanet:171719", "UMLS:C0432335", "MESH:C563639", "SNOMEDCT:254221009", "medgen:96594", "icd11.foundation:467492754"], "information_content": 100.0}
{"id": "MONDO:0007769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brown eyelids", "equivalent_identifiers": ["MONDO:0007769", "DOID:10122", "OMIM:145100", "EFO:1000711", "UMLS:C0155211", "UMLS:C0854438", "UMLS:C4280440", "MESH:C562400", "MEDDRA:10005147", "MEDDRA:10020714", "SNOMEDCT:41115008", "medgen:56358", "ICD10:H02.71", "ICD9:374.52", "HP:0007406"], "information_content": 100.0}
{"id": "MONDO:0014261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome", "equivalent_identifiers": ["MONDO:0014261", "DOID:0111484", "OMIM:615578", "orphanet:391348", "UMLS:C3810001", "medgen:816331"], "information_content": 100.0}
{"id": "HP:0040014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased mitochondrial number", "equivalent_identifiers": ["HP:0040014", "UMLS:C4022492"], "information_content": 95.4}
{"id": "MONDO:0007712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculoauriculovertebral spectrum with radial defects", "equivalent_identifiers": ["MONDO:0007712", "OMIM:141400", "orphanet:2549", "UMLS:C0220681", "SNOMEDCT:726722009", "medgen:67392"], "information_content": 90.9}
{"id": "HP:0100335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-midline cleft of the upper lip", "equivalent_identifiers": ["HP:0100335", "UMLS:C4021020"], "information_content": 84.8}
{"id": "MONDO:0958175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial microsomia 1", "equivalent_identifiers": ["MONDO:0958175", "OMIM:164210", "UMLS:C3495417", "UMLS:C4023411", "SNOMEDCT:254025006", "medgen:501171", "HP:0011332"], "information_content": 100.0}
{"id": "HP:0009943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete duplication of thumb phalanx", "equivalent_identifiers": ["HP:0009943", "UMLS:C3554724"], "information_content": 92.8}
{"id": "MONDO:0054700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 2", "equivalent_identifiers": ["MONDO:0054700", "DOID:0060914", "OMIM:618048", "UMLS:C4747989", "medgen:1648482"], "information_content": 100.0}
{"id": "HP:0410243", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating IgM concentration", "equivalent_identifiers": ["HP:0410243", "UMLS:C5139423"], "information_content": 83.1}
{"id": "HP:0031234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neutrophilic infiltration of the skin", "equivalent_identifiers": ["HP:0031234", "UMLS:C4531258"], "information_content": 92.8}
{"id": "HP:0100539", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periorbital edema", "equivalent_identifiers": ["HP:0100539", "NCIT:C115992", "NCIT:C78530", "UMLS:C0149754", "UMLS:C0151205", "UMLS:C0424810", "MEDDRA:10014250", "MEDDRA:10030123", "MEDDRA:10034545", "MEDDRA:10054541", "MEDDRA:10056647", "MEDDRA:10057182", "MEDDRA:10077364", "SNOMEDCT:109245003", "SNOMEDCT:267041004", "SNOMEDCT:49563000"], "information_content": 87.2}
{"id": "HP:0034156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-beta-2-Glycoprotein I IgG antibody positivity", "equivalent_identifiers": ["HP:0034156", "UMLS:C5676752"], "information_content": 100.0}
{"id": "HP:0033221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CD4:CD8 ratio", "equivalent_identifiers": ["HP:0033221", "UMLS:C0920173", "MEDDRA:10051121"], "information_content": 100.0}
{"id": "HP:0025528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Annular cutaneous lesion", "equivalent_identifiers": ["HP:0025528", "UMLS:C4476833"], "information_content": 100.0}
{"id": "MONDO:0010098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "taurodontism", "equivalent_identifiers": ["MONDO:0010098", "OMIM:272700", "UMLS:C0266039", "UMLS:C4280616", "MESH:C536946", "MEDDRA:10087780", "SNOMEDCT:51744007", "medgen:75596", "icd11.foundation:356382747", "HP:0000679"], "information_content": 100.0}
{"id": "MONDO:0859161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome", "equivalent_identifiers": ["MONDO:0859161", "OMIM:619356", "UMLS:C5543496", "medgen:1788511"], "information_content": 100.0}
{"id": "HP:0012553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic thumbnail", "equivalent_identifiers": ["HP:0012553", "UMLS:C4022850"], "information_content": 100.0}
{"id": "HP:0008398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic fifth fingernail", "equivalent_identifiers": ["HP:0008398", "UMLS:C4024682"], "information_content": 83.1}
{"id": "HP:0005707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral triphalangeal thumbs", "equivalent_identifiers": ["HP:0005707", "UMLS:C4021627", "SNOMEDCT:897523003"], "information_content": 100.0}
{"id": "HP:0004379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of alkaline phosphatase level", "equivalent_identifiers": ["HP:0004379", "UMLS:C0740888", "UMLS:C4020829", "UMLS:C4025328"], "information_content": 79.6}
{"id": "HP:0200105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent fifth toenail", "equivalent_identifiers": ["HP:0200105", "UMLS:C4021892"], "information_content": 100.0}
{"id": "HP:0012168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Head-banging", "equivalent_identifiers": ["HP:0012168", "UMLS:C0018672", "MEDDRA:10019191", "SNOMEDCT:43954004"], "information_content": 100.0}
{"id": "HP:0001857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of toe", "equivalent_identifiers": ["HP:0001857", "UMLS:C4021771"], "information_content": 87.2}
{"id": "MONDO:0013848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 2B", "equivalent_identifiers": ["MONDO:0013848", "DOID:0110441", "OMIM:614672", "UMLS:C3553409", "medgen:766323"], "information_content": 100.0}
{"id": "OMIM:614114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mosaic Variegated Aneuploidy Syndrome 2", "equivalent_identifiers": ["OMIM:614114", "UMLS:C3279843", "NCIT:C168989"], "information_content": 100.0}
{"id": "HP:0002101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lung lobation", "equivalent_identifiers": ["HP:0002101", "UMLS:C0685695", "SNOMEDCT:91842005"], "information_content": 88.2}
{"id": "HP:0032569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporal bossing", "equivalent_identifiers": ["HP:0032569", "UMLS:C1860048"], "information_content": 100.0}
{"id": "MONDO:0007547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epithelial cyst", "equivalent_identifiers": ["MONDO:0007547", "OMIM:131600", "EFO:1000243", "UMLS:C0014511", "UMLS:C0259770", "UMLS:C1314741", "MESH:D004814", "MEDDRA:10011738", "MEDDRA:10011752", "MEDDRA:10014983", "MEDDRA:10014984", "MEDDRA:10039778", "MEDDRA:10058635", "MEDDRA:10079604", "NCIT:C3018", "NCIT:C3134", "SNOMEDCT:399999000", "SNOMEDCT:417992006", "SNOMEDCT:418323001", "SNOMEDCT:418630001", "SNOMEDCT:418930003", "SNOMEDCT:419366003", "SNOMEDCT:419603000", "SNOMEDCT:419670003", "SNOMEDCT:419893006", "medgen:41829", "HP:0200040"], "information_content": 90.9}
{"id": "MONDO:0010158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-substance anomaly", "equivalent_identifiers": ["MONDO:0010158", "OMIM:276200", "UMLS:C1848724", "medgen:338528"], "information_content": 100.0}
{"id": "MONDO:0100436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 2, multiple types", "equivalent_identifiers": ["MONDO:0100436", "DOID:0110235", "OMIM:604307", "UMLS:C1852438", "UMLS:C4021237", "UMLS:C4721890", "medgen:1648415", "HP:0010698"], "information_content": 100.0}
{"id": "MONDO:0007281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 4 multiple types", "equivalent_identifiers": ["MONDO:0007281", "DOID:0110234", "OMIM:115700", "UMLS:C1837023", "UMLS:C1861832", "UMLS:C3540850", "UMLS:C3888390", "UMLS:C3888391", "MESH:C563819", "MESH:C565131", "MESH:C566162", "medgen:761925", "HP:0010926"], "information_content": 100.0}
{"id": "MONDO:0011505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypobetalipoproteinemia 2", "equivalent_identifiers": ["MONDO:0011505", "DOID:0111061", "OMIM:605019", "UMLS:C1857970", "MESH:C565732", "medgen:341895"], "information_content": 100.0}
{"id": "MONDO:0017774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypobetalipoproteinemia", "equivalent_identifiers": ["MONDO:0017774", "DOID:1390", "orphanet:31154", "UMLS:C0020597", "UMLS:C0853085", "MESH:D006995", "MEDDRA:10011972", "MEDDRA:10024058", "MEDDRA:10024904", "MEDDRA:10024907", "MEDDRA:10024909", "MEDDRA:10024917", "SNOMEDCT:190786004", "medgen:6978", "icd11.foundation:1934975006", "HP:0003563"], "information_content": 89.4}
{"id": "MONDO:0011506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial infantile myoclonic epilepsy", "equivalent_identifiers": ["MONDO:0011506", "OMIM:605021", "orphanet:352582", "UMLS:C0917800", "SNOMEDCT:784342008", "medgen:181488"], "information_content": 100.0}
{"id": "MONDO:0007451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes insipidus, nephrogenic, autosomal", "equivalent_identifiers": ["MONDO:0007451", "DOID:0081061", "OMIM:125800", "UMLS:C1563706", "medgen:289643"], "information_content": 100.0}
{"id": "HP:0001955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unexplained fevers", "equivalent_identifiers": ["HP:0001955", "UMLS:C1844662"], "information_content": 100.0}
{"id": "HP:0001986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertonic dehydration", "equivalent_identifiers": ["HP:0001986", "UMLS:C1112601", "MEDDRA:10057218"], "information_content": 95.4}
{"id": "MONDO:0013340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 5, autosomal dominant, susceptibility to", "equivalent_identifiers": ["MONDO:0013340", "OMIM:613643", "UMLS:C3150899", "medgen:462249"], "information_content": 100.0}
{"id": "MONDO:0044312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunoskeletal dysplasia with neurodevelopmental abnormalities", "equivalent_identifiers": ["MONDO:0044312", "OMIM:617425", "UMLS:C4479452", "medgen:1381460"], "information_content": 100.0}
{"id": "HP:0004566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pear-shaped vertebrae", "equivalent_identifiers": ["HP:0004566", "UMLS:C1866731"], "information_content": 95.4}
{"id": "MONDO:0005844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chalazion", "equivalent_identifiers": ["MONDO:0005844", "DOID:9903", "EFO:0007363", "UMLS:C0007933", "MESH:D017043", "MEDDRA:10008388", "MEDDRA:10027134", "NCIT:C26717", "SNOMEDCT:1482004", "medgen:869", "icd11.foundation:777918741", "ICD10:H00.1", "ICD9:373.2", "HP:0010605"], "information_content": 100.0}
{"id": "HP:0031545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally low T cell receptor excision circle level", "equivalent_identifiers": ["HP:0031545", "UMLS:C4531052"], "information_content": 100.0}
{"id": "HP:0004894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngotracheal stenosis", "equivalent_identifiers": ["HP:0004894", "UMLS:C3806280", "MEDDRA:10090487"], "information_content": 100.0}
{"id": "HP:0008445", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical spinal canal stenosis", "equivalent_identifiers": ["HP:0008445", "UMLS:C1844925"], "information_content": 100.0}
{"id": "HP:0004060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trident hand", "equivalent_identifiers": ["HP:0004060", "UMLS:C0426874", "MEDDRA:10087045", "SNOMEDCT:249755001"], "information_content": 100.0}
{"id": "HP:0100865", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad ischia", "equivalent_identifiers": ["HP:0100865", "UMLS:C1836868"], "information_content": 100.0}
{"id": "HP:0030320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased intervertebral space", "equivalent_identifiers": ["HP:0030320", "UMLS:C4022513"], "information_content": 100.0}
{"id": "HP:0008462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical instability", "equivalent_identifiers": ["HP:0008462", "UMLS:C1863314"], "information_content": 100.0}
{"id": "HP:0034374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trident acetabulum", "equivalent_identifiers": ["HP:0034374", "UMLS:C3810182"], "information_content": 100.0}
{"id": "MONDO:0008332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type von Willebrand disease", "equivalent_identifiers": ["MONDO:0008332", "DOID:0111056", "OMIM:177820", "orphanet:52530", "UMLS:C1280798", "MESH:C536458", "NCIT:C131681", "SNOMEDCT:128115005", "medgen:226914"], "information_content": 100.0}
{"id": "HP:0004854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent thrombocytopenia", "equivalent_identifiers": ["HP:0004854", "UMLS:C1839167"], "information_content": 100.0}
{"id": "MONDO:0008207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondromalacia patellae", "equivalent_identifiers": ["MONDO:0008207", "DOID:13357", "OMIM:168900", "UMLS:C0008475", "MESH:D046789", "MEDDRA:10008731", "MEDDRA:10008732", "SNOMEDCT:36071006", "medgen:939", "icd11.foundation:1589625540", "ICD10:M22.4", "ICD9:717.7"], "information_content": 100.0}
{"id": "HP:0003045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal patella morphology", "equivalent_identifiers": ["HP:0003045", "UMLS:C4021743"], "information_content": 80.2}
{"id": "MONDO:0011678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homozygous 11P15-p14 deletion syndrome", "equivalent_identifiers": ["MONDO:0011678", "OMIM:606528", "UMLS:C1847866", "MESH:C564701", "medgen:338336"], "information_content": 100.0}
{"id": "HP:0002909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized aminoaciduria", "equivalent_identifiers": ["HP:0002909", "UMLS:C1847868"], "information_content": 100.0}
{"id": "MONDO:0005020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal disorder", "equivalent_identifiers": ["MONDO:0005020", "DOID:5295", "EFO:0009431", "UMLS:C0021831", "UMLS:C4316788", "MESH:D007410", "MEDDRA:10045793", "NCIT:C26801", "SNOMEDCT:85919009", "medgen:7130", "ICD10:K63.9", "ICD9:569.9", "HP:0002242"], "information_content": 54.7}
{"id": "MONDO:0002177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism", "equivalent_identifiers": ["MONDO:0002177", "DOID:2018", "UMLS:C0020459", "MESH:D006946", "MEDDRA:10020643", "MEDDRA:10020644", "MEDDRA:10022483", "MEDDRA:10022486", "MEDDRA:10060378", "MEDDRA:10061211", "MEDDRA:10077858", "SNOMEDCT:83469008", "medgen:43779", "ICD10:E16.1", "HP:0000842"], "information_content": 78.3}
{"id": "OMIM:617343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HYPERPARATHYROIDISM 4", "equivalent_identifiers": ["OMIM:617343", "UMLS:C4479229"]}
{"id": "MONDO:0010837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hyperparathyroidism", "equivalent_identifiers": ["MONDO:0010837", "DOID:11202", "EFO:0008519", "UMLS:C0221002", "MESH:D049950", "MEDDRA:10020707", "MEDDRA:10036693", "NCIT:C48280", "SNOMEDCT:36348003", "medgen:66354", "icd11.foundation:817194045", "ICD10:E21.0", "ICD9:252.01", "HP:0008200"], "information_content": 81.3}
{"id": "MONDO:0014249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple fibroadenoma of the breast", "equivalent_identifiers": ["MONDO:0014249", "OMIM:615554", "UMLS:C3809918", "SNOMEDCT:721601007", "medgen:816248"], "information_content": 100.0}
{"id": "MONDO:0013956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency", "equivalent_identifiers": ["MONDO:0013956", "DOID:0111945", "OMIM:614892", "orphanet:319595", "UMLS:C4013950", "medgen:862387"], "information_content": 100.0}
{"id": "HP:0011275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent mycobacterium avium complex infections", "equivalent_identifiers": ["HP:0011275", "UMLS:C1737260", "MEDDRA:10066629"], "information_content": 100.0}
{"id": "MONDO:0014237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 76", "equivalent_identifiers": ["MONDO:0014237", "DOID:0110524", "OMIM:615540", "UMLS:C3147083", "medgen:811137"], "information_content": 100.0}
{"id": "MONDO:0013951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 12A (Zellweger)", "equivalent_identifiers": ["MONDO:0013951", "DOID:0080486", "OMIM:614886", "UMLS:C1838299", "UMLS:C1838300", "UMLS:C3554002", "MESH:C563964", "MESH:C563965", "medgen:766916"], "information_content": 100.0}
{"id": "HP:0003455", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating long chain fatty acid concentration", "equivalent_identifiers": ["HP:0003455", "UMLS:C1859241"], "information_content": 85.5}
{"id": "HP:0003103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cortical bone morphology", "equivalent_identifiers": ["HP:0003103", "UMLS:C4021741"], "information_content": 75.0}
{"id": "HP:0009553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the hairline", "equivalent_identifiers": ["HP:0009553", "UMLS:C4024297"], "information_content": 84.2}
{"id": "HP:0010461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the male genitalia", "equivalent_identifiers": ["HP:0010461", "UMLS:C4023819"], "information_content": 59.3}
{"id": "HP:0000267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cranial asymmetry", "equivalent_identifiers": ["HP:0000267", "UMLS:C1860245", "UMLS:C4280258", "UMLS:C4280657", "UMLS:C4280658", "UMLS:C4280659", "UMLS:C4280660", "UMLS:C4280661", "UMLS:C4280662", "MEDDRA:10081295"], "information_content": 88.2}
{"id": "MONDO:0012721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy type 3", "equivalent_identifiers": ["MONDO:0012721", "DOID:0111446", "OMIM:611726", "orphanet:263516", "UMLS:C2673257", "MESH:C567095", "SNOMEDCT:783064000", "medgen:388595", "icd11.foundation:383417276"], "information_content": 100.0}
{"id": "HP:0032667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myoclonic status epilepticus", "equivalent_identifiers": ["HP:0032667", "UMLS:C5397681", "SNOMEDCT:1299165007"], "information_content": 92.8}
{"id": "MONDO:0009497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kifafa seizure disorder", "equivalent_identifiers": ["MONDO:0009497", "OMIM:245180", "UMLS:C0796010", "MESH:C537708", "medgen:208655"], "information_content": 100.0}
{"id": "HP:0006932", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient psychotic episodes", "equivalent_identifiers": ["HP:0006932", "NCIT:C94390", "UMLS:C0033958", "UMLS:C4024958", "MEDDRA:10006360", "SNOMEDCT:5464005"], "information_content": 100.0}
{"id": "MONDO:0032875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature and microcephaly with genital anomalies", "equivalent_identifiers": ["MONDO:0032875", "OMIM:618702", "EFO:0010665", "UMLS:C5231467", "medgen:1684791"], "information_content": 100.0}
{"id": "HP:0005832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysharmonic delayed bone age", "equivalent_identifiers": ["HP:0005832", "UMLS:C1859444"], "information_content": 95.4}
{"id": "HP:0025515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed thelarche", "equivalent_identifiers": ["HP:0025515", "UMLS:C4476820"], "information_content": 100.0}
{"id": "MONDO:0006904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phimosis", "equivalent_identifiers": ["MONDO:0006904", "DOID:2712", "EFO:1001104", "UMLS:C0031538", "UMLS:C0345326", "MESH:D010688", "MEDDRA:10034878", "MEDDRA:10043855", "NCIT:C26852", "NCIT:C27124", "SNOMEDCT:198006006", "SNOMEDCT:253854008", "SNOMEDCT:449826002", "medgen:87496", "icd11.foundation:184957512", "ICD10:N47.1", "HP:0001741"], "information_content": 92.8}
{"id": "MONDO:0012605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 5", "equivalent_identifiers": ["MONDO:0012605", "DOID:0060837", "OMIM:611040", "orphanet:251279", "UMLS:C1970236", "MESH:C567024", "medgen:410021", "ICD10:Q15.8"], "information_content": 100.0}
{"id": "MONDO:0001746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic disk drusen", "equivalent_identifiers": ["MONDO:0001746", "DOID:13561", "UMLS:C0029128", "MESH:D015594", "MEDDRA:10030917", "SNOMEDCT:33629003", "medgen:14495", "ICD10:H47.32", "ICD9:377.21", "HP:0012426"], "information_content": 100.0}
{"id": "HP:0030823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scleral thickening", "equivalent_identifiers": ["HP:0030823", "UMLS:C2674403"], "information_content": 100.0}
{"id": "HP:0012152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foveoschisis", "equivalent_identifiers": ["HP:0012152", "UMLS:C2674407"], "information_content": 100.0}
{"id": "HP:0008323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal light- and dark-adapted electroretinogram", "equivalent_identifiers": ["HP:0008323", "UMLS:C3151111"], "information_content": 92.8}
{"id": "MONDO:0014090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type A6", "equivalent_identifiers": ["MONDO:0014090", "OMIM:615226", "UMLS:C3808889", "medgen:815219"], "information_content": 100.0}
{"id": "HP:0009374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad phalanges of the 5th finger", "equivalent_identifiers": ["HP:0009374", "UMLS:C4024412"], "information_content": 90.9}
{"id": "HP:0006482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dental morphology", "equivalent_identifiers": ["HP:0006482"], "information_content": 65.6}
{"id": "MONDO:0006615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sweat gland disorder", "equivalent_identifiers": ["MONDO:0006615", "DOID:1383", "EFO:1000772", "UMLS:C0038986", "UMLS:C0262643", "UMLS:C4020881", "MESH:D013543", "MEDDRA:10042653", "MEDDRA:10042654", "MEDDRA:10045827", "SNOMEDCT:88232005", "medgen:892310", "ICD10:L74.9", "ICD9:705.9", "HP:0000971"], "information_content": 71.7}
{"id": "MONDO:0009868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease IXb", "equivalent_identifiers": ["MONDO:0009868", "DOID:0111041", "OMIM:261750", "orphanet:79240", "UMLS:C0543514", "MESH:C563008", "MEDDRA:10083036", "SNOMEDCT:860860004", "medgen:107772"], "information_content": 100.0}
{"id": "HP:6000333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic phosphorylase kinase activity", "equivalent_identifiers": ["HP:6000333", "UMLS:C5937129"], "information_content": 100.0}
{"id": "HP:0009051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased muscle glycogen content", "equivalent_identifiers": ["HP:0009051", "UMLS:C1968729"], "information_content": 90.9}
{"id": "MONDO:0013345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "d-2-hydroxyglutaric aciduria 2", "equivalent_identifiers": ["MONDO:0013345", "DOID:0111352", "OMIM:613657", "UMLS:C3150909", "medgen:462259"], "information_content": 100.0}
{"id": "HP:0040146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D-2-hydroxyglutaric acidemia", "equivalent_identifiers": ["HP:0040146", "UMLS:C4022415"], "information_content": 100.0}
{"id": "MONDO:0010924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D-2-hydroxyglutaric aciduria", "equivalent_identifiers": ["MONDO:0010924", "DOID:0050575", "OMIM.PS:600721", "orphanet:79315", "UMLS:C1833429", "SNOMEDCT:237960000", "medgen:322192", "icd11.foundation:1170122566", "HP:0012321"], "information_content": 92.8}
{"id": "MONDO:0010836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nanophthalmos 1", "equivalent_identifiers": ["MONDO:0010836", "OMIM:600165", "UMLS:C1838502", "MESH:C563983", "medgen:325037"], "information_content": 100.0}
{"id": "MONDO:0008663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "snowflake vitreoretinal degeneration", "equivalent_identifiers": ["MONDO:0008663", "DOID:0111570", "OMIM:193230", "orphanet:91496", "UMLS:C1860405", "MESH:C536677", "medgen:395476", "icd11.foundation:282570444", "HP:0011533"], "information_content": 100.0}
{"id": "HP:0032027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal dots", "equivalent_identifiers": ["HP:0032027", "UMLS:C4732809"], "information_content": 100.0}
{"id": "MONDO:0014740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 68", "equivalent_identifiers": ["MONDO:0014740", "DOID:0110589", "OMIM:616707", "UMLS:C4225240", "medgen:898808"], "information_content": 100.0}
{"id": "HP:0001608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the voice", "equivalent_identifiers": ["HP:0001608", "UMLS:C4021776"], "information_content": 75.7}
{"id": "MONDO:0012937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 6", "equivalent_identifiers": ["MONDO:0012937", "DOID:0111879", "OMIM:612561", "UMLS:C2931850", "MESH:C538442", "NCIT:C176915", "medgen:419918"], "information_content": 100.0}
{"id": "MONDO:0011272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 25", "equivalent_identifiers": ["MONDO:0011272", "DOID:0110384", "OMIM:602772", "UMLS:C1864446", "MESH:C566425", "medgen:350427"], "information_content": 100.0}
{"id": "MONDO:0009251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fructose-1,6-bisphosphatase deficiency", "equivalent_identifiers": ["MONDO:0009251", "DOID:5204", "OMIM:229700", "orphanet:348", "UMLS:C0016756", "MESH:D015319", "MEDDRA:10081516", "NCIT:C128119", "SNOMEDCT:28183005", "medgen:42106", "ICD10:E74.19"], "information_content": 100.0}
{"id": "HP:0002883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperventilation", "equivalent_identifiers": ["HP:0002883", "NCIT:C50590", "UMLS:C0020578", "MEDDRA:10020910", "SNOMEDCT:68978004", "MESH:D006985"], "information_content": 86.3}
{"id": "HP:0034995", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue fructose-1,6-bisphosphatase activity", "equivalent_identifiers": ["HP:0034995", "UMLS:C5826819"], "information_content": 100.0}
{"id": "HP:0040301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary glycerol", "equivalent_identifiers": ["HP:0040301", "UMLS:C2673558"], "information_content": 95.4}
{"id": "MONDO:0013145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 6", "equivalent_identifiers": ["MONDO:0013145", "DOID:0110223", "OMIM:613119", "UMLS:C2751089", "MESH:C567735", "medgen:413473"], "information_content": 100.0}
{"id": "MONDO:0013852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 21", "equivalent_identifiers": ["MONDO:0013852", "DOID:0110311", "OMIM:614676", "UMLS:C3553442", "medgen:766356"], "information_content": 100.0}
{"id": "MONDO:0011176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal hypomagnesemia 1", "equivalent_identifiers": ["MONDO:0011176", "DOID:0060883", "OMIM:602014", "orphanet:30924", "UMLS:C1321780", "UMLS:C1865974", "UMLS:C3887522", "MESH:C566593", "SNOMEDCT:190856003", "medgen:355596"], "information_content": 100.0}
{"id": "MONDO:0009830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parkinsonian-pyramidal syndrome", "equivalent_identifiers": ["MONDO:0009830", "DOID:0060372", "OMIM:260300", "orphanet:171695", "UMLS:C1850100", "MESH:C538104", "NCIT:C198607", "SNOMEDCT:783012006", "medgen:337969", "icd11.foundation:1128311778"], "information_content": 95.4}
{"id": "HP:0002141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gait imbalance", "equivalent_identifiers": ["HP:0002141", "UMLS:C1836150"], "information_content": 100.0}
{"id": "HP:0012407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scissor gait", "equivalent_identifiers": ["HP:0012407", "UMLS:C0231698", "SNOMEDCT:22090007"], "information_content": 100.0}
{"id": "HP:0031435", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monotonic speech", "equivalent_identifiers": ["HP:0031435", "UMLS:C4531121"], "information_content": 100.0}
{"id": "MONDO:0012200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polymorphous corneal dystrophy 3", "equivalent_identifiers": ["MONDO:0012200", "DOID:0110857", "OMIM:609141", "UMLS:C1836724", "MESH:C563788", "medgen:322978"], "information_content": 100.0}
{"id": "MONDO:0859158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia, intention tremor, and hypotonia syndrome, childhood-onset", "equivalent_identifiers": ["MONDO:0859158", "OMIM:619352", "UMLS:C5543478", "medgen:1787902"], "information_content": 100.0}
{"id": "MONDO:0013842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortisone reductase deficiency 2", "equivalent_identifiers": ["MONDO:0013842", "DOID:0090140", "OMIM:614662", "UMLS:C3553382", "UMLS:C4329210", "NCIT:C131084", "SNOMEDCT:783696009", "medgen:766296"], "information_content": 100.0}
{"id": "HP:6000185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio", "equivalent_identifiers": ["HP:6000185", "UMLS:C3551718"], "information_content": 100.0}
{"id": "HP:6001080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio", "equivalent_identifiers": ["HP:6001080", "UMLS:C5970400"], "information_content": 100.0}
{"id": "MONDO:0013578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYRK1A-related intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0013578", "DOID:0070037", "OMIM:614104", "orphanet:464306", "UMLS:C5568143", "NCIT:C179708", "SNOMEDCT:1179301003", "medgen:1799566"], "information_content": 92.8}
{"id": "HP:0100703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue thrusting", "equivalent_identifiers": ["HP:0100703", "UMLS:C1829460", "MEDDRA:10082545", "SNOMEDCT:110343009", "SNOMEDCT:424583005"], "information_content": 100.0}
{"id": "HP:0000391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened helices", "equivalent_identifiers": ["HP:0000391", "UMLS:C1837732"], "information_content": 100.0}
{"id": "MONDO:0011435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "equivalent_identifiers": ["MONDO:0011435", "DOID:0070293", "OMIM:604317", "UMLS:C1858535", "UMLS:C3501830", "MESH:C565794", "medgen:346929"], "information_content": 100.0}
{"id": "HP:0002269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of neuronal migration", "equivalent_identifiers": ["HP:0002269", "NCIT:C98990", "UMLS:C1837249", "MEDDRA:10076677", "MESH:D054081"], "information_content": 69.0}
{"id": "OMIM:224230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1", "equivalent_identifiers": ["OMIM:224230", "UMLS:C1857144", "NCIT:C176925"], "information_content": 100.0}
{"id": "HP:0002165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nail pterygium", "equivalent_identifiers": ["HP:0002165", "UMLS:C0406438", "MEDDRA:10056526", "SNOMEDCT:110987009"], "information_content": 100.0}
{"id": "MONDO:0030376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Martsolf syndrome 2", "equivalent_identifiers": ["MONDO:0030376", "OMIM:619420", "UMLS:C5543626", "medgen:1779703"], "information_content": 100.0}
{"id": "MONDO:0008028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, Barnes type", "equivalent_identifiers": ["MONDO:0008028", "OMIM:158800", "UMLS:C1834688", "MESH:C563558", "medgen:322468"], "information_content": 100.0}
{"id": "MONDO:0007843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kabuki syndrome 1", "equivalent_identifiers": ["MONDO:0007843", "OMIM:147920"], "information_content": 100.0}
{"id": "HP:0033328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type II pneumocyte hyperplasia", "equivalent_identifiers": ["HP:0033328", "UMLS:C2750118"], "information_content": 100.0}
{"id": "HP:0011381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the semicircular canal", "equivalent_identifiers": ["HP:0011381", "UMLS:C4023385"], "information_content": 90.9}
{"id": "MONDO:0019980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypoplasia, bilateral", "equivalent_identifiers": ["MONDO:0019980", "orphanet:97362", "UMLS:C0431692", "SNOMEDCT:268232000", "medgen:609099", "HP:0012584"], "information_content": 100.0}
{"id": "HP:0100272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Branchial sinus", "equivalent_identifiers": ["HP:0100272", "UMLS:C0266624", "MEDDRA:10006162", "SNOMEDCT:253259008", "SNOMEDCT:785764006"], "information_content": 100.0}
{"id": "MONDO:0015987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scimitar syndrome", "equivalent_identifiers": ["MONDO:0015987", "orphanet:185", "EFO:1001167", "UMLS:C0036400", "UMLS:C4551905", "MESH:D012587", "MEDDRA:10051951", "NCIT:C85056", "SNOMEDCT:39905002", "medgen:20675", "icd11.foundation:1321054364", "ICD10:Q26.8", "HP:0011626"], "information_content": 100.0}
{"id": "HP:0011231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick eyelashes", "equivalent_identifiers": ["HP:0011231", "UMLS:C1835802", "UMLS:C4023450"], "information_content": 100.0}
{"id": "HP:0008348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating IgG2 concentration", "equivalent_identifiers": ["HP:0008348", "UMLS:C4021545"], "information_content": 89.4}
{"id": "HP:0031631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subpleural honeycombing", "equivalent_identifiers": ["HP:0031631", "UMLS:C4703451"], "information_content": 100.0}
{"id": "MONDO:0007238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amastia", "equivalent_identifiers": ["MONDO:0007238", "UMLS:C0175755", "UMLS:C0425795", "MESH:C535565", "MEDDRA:10087153", "MEDDRA:10087160", "NCIT:C118459", "SNOMEDCT:248820000", "SNOMEDCT:75474006", "HP:0002561"], "information_content": 95.4}
{"id": "HP:0012806", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proboscis", "equivalent_identifiers": ["HP:0012806", "UMLS:C0687082", "UMLS:C5194070"], "information_content": 100.0}
{"id": "HP:0001633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mitral valve morphology", "equivalent_identifiers": ["HP:0001633", "UMLS:C4025759"], "information_content": 74.7}
{"id": "MONDO:0014833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart and brain malformation syndrome", "equivalent_identifiers": ["MONDO:0014833", "OMIM:616920", "UMLS:C4310793", "medgen:934760"], "information_content": 100.0}
{"id": "HP:0001188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand clenching", "equivalent_identifiers": ["HP:0001188", "UMLS:C0239815"], "information_content": 100.0}
{"id": "MONDO:0012346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus, type 4", "equivalent_identifiers": ["MONDO:0012346", "DOID:0111293", "OMIM:609800", "UMLS:C1853345", "MESH:C565227", "medgen:342858"], "information_content": 100.0}
{"id": "MONDO:0013362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0013362", "OMIM:613680", "orphanet:363444", "UMLS:C3150939", "SNOMEDCT:773554009", "medgen:462289"], "information_content": 100.0}
{"id": "MONDO:0007283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 42", "equivalent_identifiers": ["MONDO:0007283", "DOID:0110237", "OMIM:115900", "UMLS:C4011454", "medgen:859891"], "information_content": 100.0}
{"id": "MONDO:0007727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TNF receptor 1-associated periodic fever syndrome", "equivalent_identifiers": ["MONDO:0007727", "DOID:0090018", "OMIM:142680", "orphanet:32960", "UMLS:C1275126", "UMLS:C3889136", "MESH:C536657", "MEDDRA:10067774", "MEDDRA:10067783", "NCIT:C119051", "SNOMEDCT:403833009", "medgen:226899", "icd11.foundation:1869883509", "ICD10:E85.0"], "information_content": 100.0}
{"id": "HP:0030953", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjunctival hyperemia", "equivalent_identifiers": ["HP:0030953", "UMLS:C1761613", "MEDDRA:10010723", "MEDDRA:10010731", "MEDDRA:10020621", "MEDDRA:10051625", "MEDDRA:10054364", "MEDDRA:10060376", "SNOMEDCT:193894004"], "information_content": 95.4}
{"id": "MONDO:0000986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleurisy", "equivalent_identifiers": ["MONDO:0000986", "DOID:10247", "EFO:1001825", "UMLS:C0029799", "UMLS:C0032231", "MESH:D010998", "MEDDRA:10035618", "MEDDRA:10035619", "MEDDRA:10035624", "NCIT:C26860", "SNOMEDCT:196075003", "medgen:10807", "icd11.foundation:317852053", "ICD9:511.8", "HP:0002102"], "information_content": 88.2}
{"id": "HP:0040313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oligoarthritis", "equivalent_identifiers": ["HP:0040313", "NCIT:C119021", "UMLS:C3892044", "MEDDRA:10082100"], "information_content": 100.0}
{"id": "MONDO:0019439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AA amyloidosis", "equivalent_identifiers": ["MONDO:0019439", "DOID:0080936", "orphanet:85445", "UMLS:C3536715", "MESH:C000718787", "MEDDRA:10039811", "MEDDRA:10086184", "NCIT:C3818", "SNOMEDCT:274945004", "SNOMEDCT:281034005", "medgen:782429", "icd11.foundation:570181034", "ICD10:E85.3", "HP:4000041"], "information_content": 100.0}
{"id": "HP:0040186", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maculopapular exanthema", "equivalent_identifiers": ["HP:0040186", "NCIT:C75579", "UMLS:C0423791", "MEDDRA:10025423", "MEDDRA:10025424", "MEDDRA:10037868", "MEDDRA:10049195", "SNOMEDCT:247471006", "SNOMEDCT:47725002"], "information_content": 100.0}
{"id": "HP:0012280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic amyloidosis", "equivalent_identifiers": ["HP:0012280", "UMLS:C0267839", "MEDDRA:10075251", "SNOMEDCT:9551004"], "information_content": 100.0}
{"id": "MONDO:0009789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonarteritic anterior ischemic optic neuropathy, susceptibility to", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009789", "OMIM:258660", "UMLS:C1847711", "medgen:338294"], "information_content": 100.0}
{"id": "MONDO:0000499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-arteritic anterior ischemic optic neuropathy", "equivalent_identifiers": ["MONDO:0000499", "DOID:0050864", "UMLS:C1852242", "MEDDRA:10068242", "MEDDRA:10068245", "MEDDRA:10068246", "MEDDRA:10068249", "medgen:338887", "icd11.foundation:8640162", "HP:0007634"], "information_content": 95.4}
{"id": "MONDO:0014271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "STT3B-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0014271", "DOID:0080573", "OMIM:615597", "orphanet:370924", "UMLS:C2931007", "MESH:C535751", "SNOMEDCT:733112007", "medgen:419309"], "information_content": 100.0}
{"id": "HP:0012345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal glycosylation", "equivalent_identifiers": ["HP:0012345", "UMLS:C4022946"], "information_content": 75.7}
{"id": "MONDO:0013922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 7", "equivalent_identifiers": ["MONDO:0013922", "DOID:0070011", "OMIM:614851", "orphanet:319675", "UMLS:C3553870", "medgen:766784"], "information_content": 100.0}
{"id": "MONDO:0018154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Madelung deformity", "equivalent_identifiers": ["MONDO:0018154", "UMLS:C0152441", "MESH:C562398", "MEDDRA:10007700", "MEDDRA:10025427", "SNOMEDCT:4530000", "medgen:57537", "icd11.foundation:1398663515", "HP:0003067"], "information_content": 92.8}
{"id": "MONDO:0012759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "camptodactyly syndrome, Guadalajara type 3", "equivalent_identifiers": ["MONDO:0012759", "OMIM:611929", "orphanet:488434", "UMLS:C2677809", "MESH:C567455", "SNOMEDCT:1172633003", "medgen:394371"], "information_content": 100.0}
{"id": "HP:0006109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent phalangeal crease", "equivalent_identifiers": ["HP:0006109", "UMLS:C1862479", "UMLS:C4020821"], "information_content": 89.4}
{"id": "MONDO:0020359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symblepharon", "equivalent_identifiers": ["MONDO:0020359", "DOID:0111720", "orphanet:98948", "UMLS:C0152454", "MEDDRA:10010696", "MEDDRA:10042736", "SNOMEDCT:90216006", "medgen:509041", "icd11.foundation:1595154985", "HP:0430007"], "information_content": 100.0}
{"id": "MONDO:0018816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated neonatal sclerosing cholangitis", "equivalent_identifiers": ["MONDO:0018816", "OMIM:617394", "orphanet:480556", "UMLS:C4479344", "medgen:1393230"], "information_content": 100.0}
{"id": "HP:0012852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic bridging fibrosis", "equivalent_identifiers": ["HP:0012852", "UMLS:C4022709"], "information_content": 100.0}
{"id": "HP:0011985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acholic stools", "equivalent_identifiers": ["HP:0011985", "UMLS:C2675627", "MEDDRA:10057077", "SNOMEDCT:70396004"], "information_content": 100.0}
{"id": "HP:0034294", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ductal bile plugs", "equivalent_identifiers": ["HP:0034294", "UMLS:C5706150"], "information_content": 100.0}
{"id": "MONDO:0005388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis", "equivalent_identifiers": ["MONDO:0005388", "DOID:12236", "OMIM.PS:109720", "orphanet:186", "EFO:0004267", "EFO:1001486", "UMLS:C0008312", "UMLS:C0023892", "MESH:D008105", "MEDDRA:10004659", "MEDDRA:10004660", "MEDDRA:10004661", "MEDDRA:10009024", "MEDDRA:10009210", "MEDDRA:10019137", "MEDDRA:10036680", "MEDDRA:10080429", "NCIT:C27167", "NCIT:C51225", "SNOMEDCT:1761006", "SNOMEDCT:31712002", "medgen:3035", "icd11.foundation:649193479", "ICD10:K74.3", "ICD10:K74.5", "ICD9:571.6", "HP:0002613"], "information_content": 88.2}
{"id": "MONDO:0957813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia", "equivalent_identifiers": ["MONDO:0957813", "OMIM:620538", "UMLS:C5882701", "medgen:1846222"], "information_content": 100.0}
{"id": "HP:0007166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal dyskinesia", "equivalent_identifiers": ["HP:0007166", "UMLS:C0752210", "UMLS:C1836174"], "information_content": 100.0}
{"id": "MONDO:0014263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "8q24.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0014263", "OMIM:615583", "orphanet:508488", "UMLS:C3810023", "SNOMEDCT:1229895008", "medgen:816353"], "information_content": 100.0}
{"id": "HP:0000321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Square face", "equivalent_identifiers": ["HP:0000321", "UMLS:C1832127"], "information_content": 95.4}
{"id": "MONDO:0007233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Branchioma", "equivalent_identifiers": ["MONDO:0007233", "OMIM:113600", "orphanet:141022", "EFO:1001277", "UMLS:C0006131", "UMLS:C0079037", "UMLS:C3874315", "MESH:C562384", "MESH:D001935", "MEDDRA:10006160", "MEDDRA:10006164", "NCIT:C104813", "NCIT:C2908", "SNOMEDCT:362998000", "SNOMEDCT:42362005", "SNOMEDCT:59857007", "SNOMEDCT:73381000119100", "SNOMEDCT:785762005", "medgen:840602", "HP:0009796"], "information_content": 100.0}
{"id": "MONDO:0013917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 15", "equivalent_identifiers": ["MONDO:0013917", "DOID:0111123", "OMIM:614845", "UMLS:C3541853", "medgen:762112"], "information_content": 100.0}
{"id": "MONDO:0013371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1U", "equivalent_identifiers": ["MONDO:0013371", "DOID:0110455", "OMIM:613694", "UMLS:C3160720", "MESH:C566296", "medgen:463620"], "information_content": 100.0}
{"id": "MONDO:0976261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation type 1EE with or without immunodeficiency", "equivalent_identifiers": ["MONDO:0976261", "OMIM:621140"], "information_content": 100.0}
{"id": "HP:0033207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CD21low B cell proportion", "equivalent_identifiers": ["HP:0033207", "UMLS:C5421684"], "information_content": 100.0}
{"id": "HP:0001727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thromboembolic stroke", "equivalent_identifiers": ["HP:0001727", "UMLS:C1112433", "MEDDRA:10057613"], "information_content": 100.0}
{"id": "HP:0030386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal class-switched memory B cell proportion", "equivalent_identifiers": ["HP:0030386", "UMLS:C4072924"], "information_content": 92.8}
{"id": "HP:0033222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inverted CD4:CD8 ratio", "equivalent_identifiers": ["HP:0033222", "UMLS:C0853905", "MEDDRA:10007843", "MEDDRA:10007844"], "information_content": 100.0}
{"id": "MONDO:0006629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoarthritis, hip", "equivalent_identifiers": ["MONDO:0006629", "EFO:1000786", "UMLS:C0029410", "MESH:D015207", "MEDDRA:10020108", "MEDDRA:10029875", "MEDDRA:10029876", "MEDDRA:10048793", "MEDDRA:10065955", "MEDDRA:10090417", "NCIT:C34876", "medgen:14530", "HP:0008843"], "information_content": 100.0}
{"id": "MONDO:0005154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver disorder", "equivalent_identifiers": ["MONDO:0005154", "DOID:409", "EFO:0001421", "UMLS:C0023895", "UMLS:C4021780", "MESH:D008107", "MEDDRA:10013107", "MEDDRA:10013228", "MEDDRA:10013234", "MEDDRA:10019650", "MEDDRA:10019652", "MEDDRA:10019653", "MEDDRA:10024670", "MEDDRA:10045808", "MEDDRA:10059616", "NCIT:C3196", "SNOMEDCT:235856003", "medgen:893061", "ICD10:K76.9", "ICD9:573.9", "HP:0001392"], "information_content": 59.0}
{"id": "HP:0031402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced antigen-specific T cell proliferation", "equivalent_identifiers": ["HP:0031402", "UMLS:C4531015", "UMLS:C4531148"], "information_content": 100.0}
{"id": "MONDO:0006741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalomalacia", "equivalent_identifiers": ["MONDO:0006741", "DOID:2034", "EFO:1000915", "UMLS:C0014068", "MESH:D004678", "MEDDRA:10051818", "MEDDRA:10067463", "NCIT:C98920", "SNOMEDCT:58762006", "medgen:4936", "icd11.foundation:689481271", "HP:0040197"], "information_content": 92.8}
{"id": "HP:0030842", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Choking episodes", "equivalent_identifiers": ["HP:0030842", "UMLS:C4280747"], "information_content": 100.0}
{"id": "HP:6001197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wrist arthritis", "equivalent_identifiers": ["HP:6001197"], "information_content": 100.0}
{"id": "HP:0410242", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating IgG concentration", "equivalent_identifiers": ["HP:0410242", "UMLS:C5139422"], "information_content": 72.7}
{"id": "HP:0410240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating IgA concentration", "equivalent_identifiers": ["HP:0410240", "UMLS:C5139420"], "information_content": 83.6}
{"id": "HP:0410241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating IgE concentration", "equivalent_identifiers": ["HP:0410241", "UMLS:C5139421"], "information_content": 83.6}
{"id": "HP:0040089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal total natural killer cell count", "equivalent_identifiers": ["HP:0040089", "UMLS:C4021036"], "information_content": 77.8}
{"id": "HP:0002329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Drowsiness", "equivalent_identifiers": ["HP:0002329", "NCIT:C95746", "UMLS:C0013144", "MEDDRA:10013649", "MEDDRA:10041014", "MEDDRA:10041018", "SNOMEDCT:271782001", "SNOMEDCT:79519003"], "information_content": 82.6}
{"id": "MONDO:0012350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement factor H deficiency", "equivalent_identifiers": ["MONDO:0012350", "OMIM:609814", "UMLS:C0398777", "MESH:C562875", "SNOMEDCT:234622003", "medgen:96024"], "information_content": 95.4}
{"id": "HP:0005389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depletion of components of the alternative complement pathway", "equivalent_identifiers": ["HP:0005389", "UMLS:C1969220"], "information_content": 100.0}
{"id": "MONDO:0019736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dense deposit disease", "equivalent_identifiers": ["MONDO:0019736", "orphanet:93571", "UMLS:C0268743", "UMLS:C4476539", "MEDDRA:10083793", "NCIT:C123039", "SNOMEDCT:59479006", "SNOMEDCT:722760002", "medgen:124345", "HP:0004746"], "information_content": 100.0}
{"id": "HP:0004876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous neonatal pneumothorax", "equivalent_identifiers": ["HP:0004876", "UMLS:C1857021"], "information_content": 100.0}
{"id": "MONDO:0009695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloproliferative disease, autosomal recessive", "equivalent_identifiers": ["MONDO:0009695", "OMIM:254700", "UMLS:C1850779", "MESH:C564977", "medgen:338119"], "information_content": 100.0}
{"id": "HP:0004852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced leukocyte alkaline phosphatase", "equivalent_identifiers": ["HP:0004852", "UMLS:C1850780"], "information_content": 92.8}
{"id": "MONDO:0859521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 14", "equivalent_identifiers": ["MONDO:0859521", "OMIM:620276", "UMLS:C5830326", "medgen:1840962"], "information_content": 100.0}
{"id": "HP:0034914", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oocyte maturation arrest", "equivalent_identifiers": ["HP:0034914", "UMLS:C5826764"], "information_content": 95.4}
{"id": "MONDO:0010319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Hedera type", "equivalent_identifiers": ["MONDO:0010319", "DOID:0060806", "OMIM:300423", "orphanet:93952", "UMLS:C1845543", "MESH:C564516", "SNOMEDCT:726727003", "medgen:337257"], "information_content": 100.0}
{"id": "MONDO:0000680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "astereognosia", "equivalent_identifiers": ["MONDO:0000680", "DOID:0060150", "UMLS:C0234505", "UMLS:C5848065", "MEDDRA:10056477", "SNOMEDCT:25094008", "medgen:65881", "icd11.foundation:756147896", "HP:0010527"], "information_content": 95.4}
{"id": "HP:0011812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agraphesthesia", "equivalent_identifiers": ["HP:0011812", "UMLS:C1328618", "MEDDRA:10063295"], "information_content": 100.0}
{"id": "MONDO:0957786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xerosis and growth failure with immune and pulmonary dysfunction syndrome", "equivalent_identifiers": ["MONDO:0957786", "OMIM:620510", "UMLS:C5882692", "medgen:1848919"], "information_content": 100.0}
{"id": "HP:0010946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyelectasia", "equivalent_identifiers": ["HP:0010946", "UMLS:C0341676", "UMLS:C1868864", "MEDDRA:10053590", "MEDDRA:10066805", "SNOMEDCT:197820003"], "information_content": 92.8}
{"id": "HP:0025664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate to late preterm birth", "equivalent_identifiers": ["HP:0025664", "NCIT:C121305", "UMLS:C4054482"], "information_content": 100.0}
{"id": "MONDO:0006952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinopathy of prematurity", "equivalent_identifiers": ["MONDO:0006952", "DOID:13025", "orphanet:90050", "EFO:1001158", "UMLS:C0035344", "MESH:D012178", "MEDDRA:10038933", "MEDDRA:10038974", "NCIT:C34982", "SNOMEDCT:415297005", "medgen:48438", "icd11.foundation:947283385", "ICD10:H35.1", "ICD9:362.21", "HP:0500049"], "information_content": 81.3}
{"id": "HP:0012382", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left-to-right shunt", "equivalent_identifiers": ["HP:0012382", "UMLS:C0428870", "SNOMEDCT:66130006"], "information_content": 100.0}
{"id": "MONDO:0013945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 9B", "equivalent_identifiers": ["MONDO:0013945", "DOID:0081438", "OMIM:614879", "UMLS:C1866351", "UMLS:C1866352", "UMLS:C2749346", "MESH:C566634", "MESH:C566635", "MESH:C567603", "medgen:440765"], "information_content": 100.0}
{"id": "HP:0010632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Total anosmia", "equivalent_identifiers": ["HP:0010632", "UMLS:C4023768"], "information_content": 100.0}
{"id": "HP:0010571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating phytanic acid concentration", "equivalent_identifiers": ["HP:0010571", "UMLS:C4023786"], "information_content": 100.0}
{"id": "MONDO:0008096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nevus flammeus of nape of neck", "equivalent_identifiers": ["MONDO:0008096", "OMIM:163100", "UMLS:C2697447", "MESH:C567524", "medgen:437278"], "information_content": 100.0}
{"id": "MONDO:0003653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stork bite", "equivalent_identifiers": ["MONDO:0003653", "DOID:5806", "UMLS:C0860468", "UMLS:C4024829", "UMLS:C4280438", "MEDDRA:10039429", "SNOMEDCT:254211001", "medgen:870384", "HP:0007616"], "information_content": 100.0}
{"id": "MONDO:0957780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 111", "equivalent_identifiers": ["MONDO:0957780", "OMIM:620504", "UMLS:C5882690", "medgen:1846991"], "information_content": 100.0}
{"id": "MONDO:0008179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal extreme pain disorder", "equivalent_identifiers": ["MONDO:0008179", "DOID:0111537", "OMIM:167400", "orphanet:46348", "UMLS:C1833661", "MESH:C563475", "MEDDRA:10081856", "NCIT:C125385", "SNOMEDCT:699190008", "medgen:331565", "icd11.foundation:9604457"], "information_content": 100.0}
{"id": "HP:0031417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhinorrhea", "equivalent_identifiers": ["HP:0031417", "NCIT:C54282", "UMLS:C1260880", "MEDDRA:10028728", "MEDDRA:10028737", "MEDDRA:10039100", "MEDDRA:10039101", "MEDDRA:10039296", "SNOMEDCT:267101005", "SNOMEDCT:64531003", "MESH:D000086722"], "information_content": 67.6}
{"id": "HP:0031284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flushing", "equivalent_identifiers": ["HP:0031284"], "information_content": 95.4}
{"id": "HP:0500005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anal pain", "equivalent_identifiers": ["HP:0500005", "NCIT:C78172", "NCIT:C78587", "UMLS:C0034886", "UMLS:C0238637", "UMLS:C0581362", "MEDDRA:10002167", "MEDDRA:10002854", "MEDDRA:10033377", "MEDDRA:10033486", "MEDDRA:10036772", "MEDDRA:10038072", "MEDDRA:10058446", "SNOMEDCT:197232005", "SNOMEDCT:68653001", "SNOMEDCT:77880009"], "information_content": 95.4}
{"id": "HP:0200025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mandibular pain", "equivalent_identifiers": ["HP:0200025", "UMLS:C4552061"], "information_content": 100.0}
{"id": "HP:0000632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacrimation abnormality", "equivalent_identifiers": ["HP:0000632", "UMLS:C4021801"], "information_content": 83.1}
{"id": "MONDO:0013473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease, cardiac defects, and autonomic dysfunction", "equivalent_identifiers": ["MONDO:0013473", "OMIM:613870", "UMLS:C3151237", "MESH:C563939", "medgen:462587"], "information_content": 100.0}
{"id": "HP:0001795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperconvex nail", "equivalent_identifiers": ["HP:0001795", "UMLS:C0423807", "SNOMEDCT:247487009"], "information_content": 90.9}
{"id": "HP:0009626", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interphalangeal thumb joint contracture", "equivalent_identifiers": ["HP:0009626", "UMLS:C2108146"], "information_content": 100.0}
{"id": "MONDO:0013225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy type 4", "equivalent_identifiers": ["MONDO:0013225", "DOID:0111138", "OMIM:613327", "UMLS:C2750069", "MESH:C567642", "SNOMEDCT:1156814008", "medgen:412871"], "information_content": 100.0}
{"id": "HP:0033794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acral overgrowth", "equivalent_identifiers": ["HP:0033794", "UMLS:C1735881", "MEDDRA:10066072"], "information_content": 100.0}
{"id": "MONDO:0004567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ileus", "equivalent_identifiers": ["MONDO:0004567", "DOID:8440", "UMLS:C1258215", "UMLS:C4019039", "MESH:D045823", "MEDDRA:10021328", "MEDDRA:10021330", "MEDDRA:10021332", "MEDDRA:10052736", "NCIT:C37979", "SNOMEDCT:710572000", "medgen:219874", "HP:0002595"], "information_content": 83.1}
{"id": "HP:0003719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle mounding", "equivalent_identifiers": ["HP:0003719", "UMLS:C1853702"], "information_content": 100.0}
{"id": "MONDO:0014937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia 2", "equivalent_identifiers": ["MONDO:0014937", "OMIM:617141", "UMLS:C0344543", "MESH:C536372", "SNOMEDCT:253232000", "medgen:138010"], "information_content": 100.0}
{"id": "MONDO:0001271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lens subluxation", "equivalent_identifiers": ["MONDO:0001271", "DOID:11364", "UMLS:C0023316", "MESH:D007906", "MEDDRA:10042408", "NCIT:C34772", "SNOMEDCT:65814009", "medgen:9718", "ICD10:H27.11", "ICD9:379.32", "HP:0001132"], "information_content": 92.8}
{"id": "MONDO:0018445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome", "equivalent_identifiers": ["MONDO:0018445", "OMIM:618272", "orphanet:404476", "UMLS:C4748924", "SNOMEDCT:782722002", "medgen:1648360"], "information_content": 100.0}
{"id": "HP:0032445", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary cyst", "equivalent_identifiers": ["HP:0032445", "NCIT:C171613", "UMLS:C0546483", "MEDDRA:10068749", "SNOMEDCT:275504005"], "information_content": 84.8}
{"id": "MONDO:0014684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 26", "equivalent_identifiers": ["MONDO:0014684", "DOID:0111490", "OMIM:616539", "orphanet:477684", "EFO:0009036", "UMLS:C5567741", "SNOMEDCT:1173034002", "medgen:1799164"], "information_content": 100.0}
{"id": "MONDO:0008640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vasculitis, lymphocytic, nodular", "equivalent_identifiers": ["MONDO:0008640", "OMIM:192310", "UMLS:C1860519", "MESH:C566008", "medgen:348635"], "information_content": 100.0}
{"id": "HP:0005300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nodular inflammatory vasculitis", "equivalent_identifiers": ["HP:0005300", "UMLS:C4025219"], "information_content": 100.0}
{"id": "MONDO:0007181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "axial osteomalacia", "equivalent_identifiers": ["MONDO:0007181", "DOID:0080039", "OMIM:109130", "UMLS:C1862372", "MESH:C537791", "medgen:354730"], "information_content": 100.0}
{"id": "MONDO:0014015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 56", "equivalent_identifiers": ["MONDO:0014015", "DOID:0110808", "OMIM:615030", "orphanet:320411", "UMLS:C3539507", "NCIT:C190870", "SNOMEDCT:783764008", "medgen:761343"], "information_content": 100.0}
{"id": "HP:0007350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb hyperreflexia", "equivalent_identifiers": ["HP:0007350", "UMLS:C1843175"], "information_content": 90.9}
{"id": "MONDO:0024455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Robinow syndrome 1", "equivalent_identifiers": ["MONDO:0024455", "DOID:0060766", "OMIM:180700", "UMLS:C4551475", "medgen:1641736"], "information_content": 100.0}
{"id": "HP:0005852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited elbow extension and supination", "equivalent_identifiers": ["HP:0005852", "UMLS:C4025124"], "information_content": 100.0}
{"id": "MONDO:0008094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Port-Wine Stain", "equivalent_identifiers": ["MONDO:0008094", "DOID:0111529", "OMIM:163000", "orphanet:624", "UMLS:C0235752", "UMLS:C2931029", "MESH:C535816", "MESH:D019339", "MEDDRA:10036196", "MEDDRA:10036197", "MEDDRA:10062800", "MEDDRA:10067193", "MEDDRA:10067195", "MEDDRA:10067196", "MEDDRA:10083301", "MEDDRA:10083544", "NCIT:C3840", "SNOMEDCT:416377005", "SNOMEDCT:763714006", "medgen:419699", "HP:0001052"], "information_content": 90.9}
{"id": "HP:0000207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular mouth", "equivalent_identifiers": ["HP:0000207", "UMLS:C1849341"], "information_content": 95.4}
{"id": "HP:0001853", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid distal phalanx of toe", "equivalent_identifiers": ["HP:0001853", "UMLS:C4021772"], "information_content": 100.0}
{"id": "HP:0001705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right ventricular outlet tract obstruction", "equivalent_identifiers": ["HP:0001705", "UMLS:C0035619", "SNOMEDCT:253530007", "MESH:D000092243"], "information_content": 100.0}
{"id": "HP:0009883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of the distal phalanx of hand", "equivalent_identifiers": ["HP:0009883", "UMLS:C1849343"], "information_content": 80.9}
{"id": "HP:0001837", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad toe", "equivalent_identifiers": ["HP:0001837", "UMLS:C1865038"], "information_content": 87.2}
{"id": "MONDO:0011398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystrophic epidermolysis bullosa pruriginosa", "equivalent_identifiers": ["MONDO:0011398", "OMIM:604129", "orphanet:89843", "UMLS:C1275114", "MESH:C563192", "SNOMEDCT:403810008", "medgen:266151"], "information_content": 100.0}
{"id": "HP:0001056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Milia", "equivalent_identifiers": ["HP:0001056", "NCIT:C3238", "UMLS:C0345996", "MEDDRA:10027626", "SNOMEDCT:254679001", "SNOMEDCT:254683001", "SNOMEDCT:37719003"], "information_content": 100.0}
{"id": "MONDO:0014011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 10", "equivalent_identifiers": ["MONDO:0014011", "DOID:0060719", "OMIM:615024", "UMLS:C3554355", "medgen:767269"], "information_content": 100.0}
{"id": "HP:0025080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orthokeratotic hyperkeratosis", "equivalent_identifiers": ["HP:0025080", "UMLS:C3670629"], "information_content": 100.0}
{"id": "MONDO:0009993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "embryonal rhabdomyosarcoma", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009993", "DOID:3246", "OMIM:268210", "orphanet:99757", "EFO:0000437", "UMLS:C0206656", "UMLS:C1849385", "MESH:C537883", "MESH:D018233", "MEDDRA:10065868", "NCIT:C8971", "SNOMEDCT:14269005", "SNOMEDCT:404051002", "medgen:104910", "HP:0006743"], "information_content": 81.7}
{"id": "MONDO:0007091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelia and terminal transverse hemimelia", "equivalent_identifiers": ["MONDO:0007091", "OMIM:104400", "UMLS:C1863014", "MESH:C566294", "medgen:400186"], "information_content": 100.0}
{"id": "MONDO:0017419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amelia", "equivalent_identifiers": ["MONDO:0017419", "orphanet:294925", "UMLS:C0002447", "MEDDRA:10001926", "NCIT:C34370", "SNOMEDCT:62588002", "medgen:8014", "HP:0009827"], "information_content": 82.6}
{"id": "MONDO:0007869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kyrle disease", "equivalent_identifiers": ["MONDO:0007869", "OMIM:149500", "UMLS:C0263382", "MESH:C538130", "MEDDRA:10050909", "MEDDRA:10050911", "MEDDRA:10050912", "MEDDRA:10050913", "SNOMEDCT:34042008", "medgen:75516"], "information_content": 100.0}
{"id": "MONDO:0009158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, fibronectinemic type", "equivalent_identifiers": ["MONDO:0009158", "OMIM:225310", "UMLS:C0268348", "UMLS:C1857038", "MESH:C565600", "SNOMEDCT:83586000", "medgen:346497"], "information_content": 100.0}
{"id": "MONDO:0033116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 26", "equivalent_identifiers": ["MONDO:0033116", "DOID:0080260", "OMIM:617633", "UMLS:C4539948", "medgen:1617917"], "information_content": 100.0}
{"id": "MONDO:0032787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 12 with or without pancreatic agenesis", "equivalent_identifiers": ["MONDO:0032787", "DOID:0081398", "OMIM:618500", "UMLS:C5193131", "medgen:1684550"], "information_content": 100.0}
{"id": "HP:0001234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hitchhiker thumb", "equivalent_identifiers": ["HP:0001234", "UMLS:C0431887", "UMLS:C1857269", "SNOMEDCT:253934006"], "information_content": 100.0}
{"id": "HP:0100801", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic aplasia", "equivalent_identifiers": ["HP:0100801", "UMLS:C4021967", "SNOMEDCT:1144555008"], "information_content": 100.0}
{"id": "MONDO:0011819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 19/22", "equivalent_identifiers": ["MONDO:0011819", "DOID:0050970", "OMIM:607346", "orphanet:98772", "UMLS:C1846367", "UMLS:C2746067", "UMLS:C5235656", "MESH:C537198", "MESH:C542540", "NCIT:C163756", "SNOMEDCT:719251009", "medgen:339504"], "information_content": 100.0}
{"id": "HP:0007944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent microsaccadic pursuits", "equivalent_identifiers": ["HP:0007944", "UMLS:C4024768"], "information_content": 100.0}
{"id": "HP:0008489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spondylolisthesis at L5-S1", "equivalent_identifiers": ["HP:0008489", "UMLS:C3275799"], "information_content": 100.0}
{"id": "MONDO:0005541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylolysis", "equivalent_identifiers": ["MONDO:0005541", "DOID:2300", "EFO:0005649", "UMLS:C0038018", "MESH:D013169", "MEDDRA:10052013", "MEDDRA:10087756", "NCIT:C35034", "SNOMEDCT:240221008", "medgen:21294", "icd11.foundation:790009325", "ICD10:M43.0", "HP:0003304"], "information_content": 92.8}
{"id": "MONDO:0032643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 12", "equivalent_identifiers": ["MONDO:0032643", "DOID:0112327", "OMIM:618266", "orphanet:611256", "UMLS:C4748873", "medgen:1648343"], "information_content": 100.0}
{"id": "MONDO:0030927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 11", "equivalent_identifiers": ["MONDO:0030927", "DOID:0081338", "OMIM:619178", "UMLS:C5543038", "medgen:1782465"], "information_content": 100.0}
{"id": "HP:0034635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber granulofilamentous inclusion bodies", "equivalent_identifiers": ["HP:0034635", "UMLS:C5826545"], "information_content": 100.0}
{"id": "HP:0020203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Z-band streaming", "equivalent_identifiers": ["HP:0020203", "UMLS:C3279278"], "information_content": 100.0}
{"id": "MONDO:0019640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior urethral valve", "equivalent_identifiers": ["MONDO:0019640", "orphanet:93110", "UMLS:C0238506", "MEDDRA:10036369", "NCIT:C99021", "SNOMEDCT:253900005", "medgen:451008", "HP:0010957"], "information_content": 92.8}
{"id": "HP:0030211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slow pupillary light response", "equivalent_identifiers": ["HP:0030211", "UMLS:C4022576"], "information_content": 100.0}
{"id": "HP:0005199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the abdominal wall musculature", "equivalent_identifiers": ["HP:0005199", "UMLS:C3149223"], "information_content": 100.0}
{"id": "MONDO:0012525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 12", "equivalent_identifiers": ["MONDO:0012525", "DOID:0110080", "OMIM:610612", "UMLS:C1857743", "MESH:C565697", "medgen:347535"], "information_content": 100.0}
{"id": "MONDO:0030900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with paroxysmal dyskinesia or seizures", "equivalent_identifiers": ["MONDO:0030900", "OMIM:619150", "UMLS:C5436894", "medgen:1727046"], "information_content": 100.0}
{"id": "HP:0000273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial grimacing", "equivalent_identifiers": ["HP:0000273", "UMLS:C0234853", "SNOMEDCT:37126005"], "information_content": 100.0}
{"id": "MONDO:8000012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1", "equivalent_identifiers": ["MONDO:8000012", "OMIM:616263", "orphanet:456312", "UMLS:C4015728", "UMLS:C5779989", "SNOMEDCT:1260450002", "medgen:864165"], "information_content": 100.0}
{"id": "HP:0030951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skeletal muscle fibrosis", "equivalent_identifiers": ["HP:0030951", "UMLS:C3670683"], "information_content": 100.0}
{"id": "HP:0009464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviation of the 2nd finger", "equivalent_identifiers": ["HP:0009464", "UMLS:C1844891"], "information_content": 100.0}
{"id": "HP:0100732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic fibrosis", "equivalent_identifiers": ["HP:0100732", "UMLS:C0267952", "MEDDRA:10074857", "SNOMEDCT:25942009"], "information_content": 100.0}
{"id": "MONDO:0011632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 21", "equivalent_identifiers": ["MONDO:0011632", "DOID:0060212", "OMIM:606070", "UMLS:C3807521", "NCIT:C168755", "medgen:813851"], "information_content": 100.0}
{"id": "HP:0002366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lower motor neuron morphology", "equivalent_identifiers": ["HP:0002366", "UMLS:C1865412"], "information_content": 100.0}
{"id": "HP:0030237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand muscle weakness", "equivalent_identifiers": ["HP:0030237", "UMLS:C0239831", "SNOMEDCT:298283006"], "information_content": 89.4}
{"id": "HP:0008756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowing of the vocal cords", "equivalent_identifiers": ["HP:0008756", "UMLS:C0396064", "MEDDRA:10084782", "SNOMEDCT:232448002"], "information_content": 100.0}
{"id": "HP:0002127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal upper motor neuron morphology", "equivalent_identifiers": ["HP:0002127", "UMLS:C4025723"], "information_content": 100.0}
{"id": "MONDO:0021569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "equivalent_identifiers": ["MONDO:0021569", "DOID:0070247", "OMIM:181350", "UMLS:C0410190", "UMLS:C1834653", "MESH:C535898", "NCIT:C126745", "SNOMEDCT:1010712009", "SNOMEDCT:240072005", "SNOMEDCT:718178006", "medgen:98048", "ICD10:G71.0"], "information_content": 100.0}
{"id": "HP:0003707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calf muscle pseudohypertrophy", "equivalent_identifiers": ["HP:0003707", "UMLS:C1839666"], "information_content": 100.0}
{"id": "HP:0025258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff neck", "equivalent_identifiers": ["HP:0025258"], "information_content": 100.0}
{"id": "HP:0011727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peroneal muscle weakness", "equivalent_identifiers": ["HP:0011727", "UMLS:C0240733"], "information_content": 100.0}
{"id": "HP:0002942", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic kyphosis", "equivalent_identifiers": ["HP:0002942", "UMLS:C1184919", "MEDDRA:10086365"], "information_content": 90.9}
{"id": "HP:0005997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck joint contracture", "equivalent_identifiers": ["HP:0005997", "UMLS:C1867006"], "information_content": 100.0}
{"id": "HP:0003697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scapuloperoneal amyotrophy", "equivalent_identifiers": ["HP:0003697", "UMLS:C1842162"], "information_content": 100.0}
{"id": "HP:0031329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interstitial cardiac fibrosis", "equivalent_identifiers": ["HP:0031329", "UMLS:C4531194"], "information_content": 100.0}
{"id": "HP:0030234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Highly elevated creatine kinase", "equivalent_identifiers": ["HP:0030234", "UMLS:C4022565"], "information_content": 100.0}
{"id": "HP:0004631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased cervical spine flexion due to contractures of posterior cervical muscles", "equivalent_identifiers": ["HP:0004631", "UMLS:C1839653", "UMLS:C4280512"], "information_content": 100.0}
{"id": "MONDO:0013769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrioventricular septal defect 5", "equivalent_identifiers": ["MONDO:0013769", "OMIM:614474", "UMLS:C3280939", "medgen:482569"], "information_content": 100.0}
{"id": "MONDO:0012269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 3q29 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0012269", "DOID:0060419", "OMIM:609425", "orphanet:65286", "UMLS:C2674949", "MESH:C567184", "SNOMEDCT:716456000", "medgen:393265"], "information_content": 100.0}
{"id": "MONDO:0030553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 4", "equivalent_identifiers": ["MONDO:0030553", "DOID:0081238", "OMIM:619636", "UMLS:C5562028", "medgen:1794238"], "information_content": 100.0}
{"id": "HP:0003890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent deltoid tuberosities", "equivalent_identifiers": ["HP:0003890", "UMLS:C2674600"], "information_content": 100.0}
{"id": "HP:0004592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic platyspondyly", "equivalent_identifiers": ["HP:0004592", "UMLS:C1862428"], "information_content": 100.0}
{"id": "MONDO:0014671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary motor and sensory, type 6B", "equivalent_identifiers": ["MONDO:0014671", "OMIM:616505", "EFO:0009075", "UMLS:C4225302", "medgen:895482"], "information_content": 100.0}
{"id": "HP:0012698", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar gliosis", "equivalent_identifiers": ["HP:0012698", "UMLS:C4022768"], "information_content": 100.0}
{"id": "MONDO:0008508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symphalangism, C. S. Lewis type", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008508", "OMIM:185650", "UMLS:C1861404", "MESH:C566100", "medgen:396126"], "information_content": 100.0}
{"id": "HP:0009703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synostosis involving the 1st metacarpal", "equivalent_identifiers": ["HP:0009703", "UMLS:C4021397"], "information_content": 95.4}
{"id": "MONDO:0032799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 16 (hepatic type)", "equivalent_identifiers": ["MONDO:0032799", "DOID:0070446", "OMIM:618528", "UMLS:C5193142", "medgen:1684495"], "information_content": 100.0}
{"id": "HP:0006581", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depletion of mitochondrial DNA in liver", "equivalent_identifiers": ["HP:0006581", "UMLS:C4025018"], "information_content": 100.0}
{"id": "HP:0004448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fulminant hepatic failure", "equivalent_identifiers": ["HP:0004448", "UMLS:C5779644", "MEDDRA:10017469", "SNOMEDCT:235884008"], "information_content": 95.4}
{"id": "MONDO:0014674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 14", "equivalent_identifiers": ["MONDO:0014674", "DOID:0111111", "OMIM:616511", "UMLS:C4225299", "medgen:908119"], "information_content": 100.0}
{"id": "MONDO:0010879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CODAS syndrome", "equivalent_identifiers": ["MONDO:0010879", "DOID:0111274", "OMIM:600373", "orphanet:1458", "UMLS:C1838180", "MESH:C536434", "NCIT:C126744", "SNOMEDCT:717772000", "medgen:333031"], "information_content": 100.0}
{"id": "HP:0003112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating amino acid concentration", "equivalent_identifiers": ["HP:0003112", "UMLS:C4025653"], "information_content": 63.9}
{"id": "HP:6000870", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal chevron deformity", "equivalent_identifiers": ["HP:6000870", "UMLS:C5937583"], "information_content": 100.0}
{"id": "HP:0009901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crumpled ear", "equivalent_identifiers": ["HP:0009901", "UMLS:C0158516", "UMLS:C4024166", "MEDDRA:10007824", "SNOMEDCT:28072004"], "information_content": 100.0}
{"id": "HP:0010577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent epiphyses", "equivalent_identifiers": ["HP:0010577", "UMLS:C4021862"], "information_content": 73.9}
{"id": "MONDO:0013680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cognitive impairment with or without cerebellar ataxia", "equivalent_identifiers": ["MONDO:0013680", "OMIM:614306", "UMLS:C3280415", "medgen:482045"], "information_content": 100.0}
{"id": "HP:0025162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe temper tantrums", "equivalent_identifiers": ["HP:0025162", "UMLS:C4476627"], "information_content": 100.0}
{"id": "MONDO:0011956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0011956", "OMIM:608049", "UMLS:C1842632", "medgen:334211"], "information_content": 100.0}
{"id": "HP:0000728", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired ability to form peer relationships", "equivalent_identifiers": ["HP:0000728", "UMLS:C1837649"], "information_content": 100.0}
{"id": "MONDO:0014951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 74", "equivalent_identifiers": ["MONDO:0014951", "DOID:0081218", "DOID:0112104", "OMIM:617169", "UMLS:C4310684", "medgen:934651"], "information_content": 100.0}
{"id": "HP:0002392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with polyspike wave complexes", "equivalent_identifiers": ["HP:0002392", "UMLS:C4021757"], "information_content": 100.0}
{"id": "MONDO:0030868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 49", "equivalent_identifiers": ["MONDO:0030868", "DOID:0112271", "OMIM:619144", "UMLS:C5436887", "medgen:1742668"], "information_content": 100.0}
{"id": "MONDO:0014563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency", "equivalent_identifiers": ["MONDO:0014563", "DOID:0070540", "OMIM:616277", "orphanet:653880", "UMLS:C4225391", "NCIT:C174218", "medgen:902729"], "information_content": 100.0}
{"id": "HP:6000469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level", "equivalent_identifiers": ["HP:6000469", "UMLS:C5937238"], "information_content": 100.0}
{"id": "HP:0002928", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased activity of the pyruvate dehydrogenase complex", "equivalent_identifiers": ["HP:0002928", "UMLS:C1839888"], "information_content": 100.0}
{"id": "MONDO:0008748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 1", "equivalent_identifiers": ["MONDO:0008748", "DOID:0060539", "OMIM:203300", "UMLS:C2931875", "MESH:C538539", "MEDDRA:10084191", "NCIT:C150367", "medgen:419514"], "information_content": 100.0}
{"id": "HP:0005599", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypopigmentation of hair", "equivalent_identifiers": ["HP:0005599", "UMLS:C3278401", "MEDDRA:10090825"], "information_content": 84.2}
{"id": "HP:0007603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Freckles in sun-exposed areas", "equivalent_identifiers": ["HP:0007603", "UMLS:C1859923"], "information_content": 100.0}
{"id": "MONDO:0014957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia", "equivalent_identifiers": ["MONDO:0014957", "OMIM:617182", "UMLS:C4310678", "medgen:934645"], "information_content": 100.0}
{"id": "MONDO:0001823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sick sinus syndrome", "equivalent_identifiers": ["MONDO:0001823", "DOID:13884", "UMLS:C0037052", "MESH:D012804", "MEDDRA:10040639", "MEDDRA:10042845", "NCIT:C62244", "SNOMEDCT:36083008", "medgen:20749", "icd11.foundation:1682594333", "ICD10:I49.5", "HP:0011704"], "information_content": 87.2}
{"id": "MONDO:0017991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Takayasu arteritis", "equivalent_identifiers": ["MONDO:0017991", "DOID:2508", "OMIM:207600", "orphanet:3287", "orphanet:99079", "EFO:1001857", "UMLS:C0003490", "UMLS:C0003510", "UMLS:C0039263", "UMLS:C3146222", "MESH:D001015", "MESH:D013625", "MEDDRA:10002890", "MEDDRA:10037496", "MEDDRA:10043097", "MEDDRA:10043098", "MEDDRA:10058930", "NCIT:C34391", "NCIT:C35062", "SNOMEDCT:239937004", "SNOMEDCT:359789008", "medgen:21458", "icd11.foundation:1327645131", "ICD10:M31.4", "ICD9:446.7"], "information_content": 100.0}
{"id": "MONDO:0010991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laterality defects, autosomal dominant", "equivalent_identifiers": ["MONDO:0010991", "OMIM:601086", "UMLS:C1832813", "MESH:C563391", "medgen:322042"], "information_content": 100.0}
{"id": "MONDO:0018677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heterotaxia", "equivalent_identifiers": ["MONDO:0018677", "DOID:0050545", "OMIM.PS:306955", "orphanet:157769", "orphanet:450", "EFO:0009081", "UMLS:C0266642", "UMLS:C3178805", "MESH:D059446", "MEDDRA:10059119", "MEDDRA:10067265", "MEDDRA:10083670", "NCIT:C117273", "NCIT:C87083", "SNOMEDCT:14821001", "medgen:465273", "icd11.foundation:780273165", "HP:0030853"], "information_content": 78.8}
{"id": "MONDO:0030721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 68", "equivalent_identifiers": ["MONDO:0030721", "DOID:0070567", "OMIM:619805", "UMLS:C5676949", "medgen:1812032"], "information_content": 100.0}
{"id": "MONDO:0008361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radius, aplasia of, with cleft lip/palate", "equivalent_identifiers": ["MONDO:0008361", "OMIM:179400", "UMLS:C1867395", "medgen:357270"], "information_content": 100.0}
{"id": "MONDO:0012154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 6", "equivalent_identifiers": ["MONDO:0012154", "OMIM:608908", "UMLS:C1837148", "MESH:C536105", "medgen:324696"], "information_content": 100.0}
{"id": "OMIM:613496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 6", "equivalent_identifiers": ["OMIM:613496", "UMLS:C3150741"]}
{"id": "HP:0033295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesangial Immune complex deposition", "equivalent_identifiers": ["HP:0033295", "UMLS:C5539490"], "information_content": 100.0}
{"id": "MONDO:0014418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, centronuclear, 5", "equivalent_identifiers": ["MONDO:0014418", "DOID:0111222", "OMIM:615959", "UMLS:C4014814", "medgen:863251"], "information_content": 100.0}
{"id": "HP:0040081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating creatine kinase concentration", "equivalent_identifiers": ["HP:0040081", "UMLS:C4022449"], "information_content": 83.1}
{"id": "MONDO:0019567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, classic type, 1", "equivalent_identifiers": ["MONDO:0019567", "DOID:14720", "OMIM:130000", "UMLS:C0268335", "MESH:C536194", "NCIT:C125696", "SNOMEDCT:83470009", "medgen:78660"], "information_content": 100.0}
{"id": "HP:0010500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperextensibility of the knee", "equivalent_identifiers": ["HP:0010500", "UMLS:C4023802"], "information_content": 92.8}
{"id": "HP:0006316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregularly spaced teeth", "equivalent_identifiers": ["HP:0006316", "UMLS:C1845878"], "information_content": 100.0}
{"id": "HP:0002010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow maxilla", "equivalent_identifiers": ["HP:0002010", "UMLS:C1851835"], "information_content": 95.4}
{"id": "HP:0005222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowel diverticulosis", "equivalent_identifiers": ["HP:0005222", "UMLS:C1394691", "UMLS:C1395674"], "information_content": 87.2}
{"id": "HP:0005100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature birth following premature rupture of fetal membranes", "equivalent_identifiers": ["HP:0005100", "UMLS:C1851833"], "information_content": 100.0}
{"id": "MONDO:0800445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birt-Hogg-Dube syndrome 1", "equivalent_identifiers": ["MONDO:0800445", "DOID:0050676", "OMIM:135150", "orphanet:122", "UMLS:C5779556", "MESH:D058249", "NCIT:C28244", "SNOMEDCT:110985001"], "information_content": 90.9}
{"id": "HP:0030436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichodiscoma", "equivalent_identifiers": ["HP:0030436", "NCIT:C43331", "NCIT:C4470", "UMLS:C0346011", "UMLS:C1704236", "UMLS:C1704237", "SNOMEDCT:128683008", "SNOMEDCT:254698004", "SNOMEDCT:254699007", "SNOMEDCT:254700008"], "information_content": 95.4}
{"id": "HP:0030255", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large intestinal polyposis", "equivalent_identifiers": ["HP:0030255", "UMLS:C4022556"], "information_content": 88.2}
{"id": "HP:0032227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sebaceous hyperplasia", "equivalent_identifiers": ["HP:0032227", "NCIT:C27152", "UMLS:C0406484", "MEDDRA:10048810", "SNOMEDCT:238748009"], "information_content": 95.4}
{"id": "HP:0032228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichodiscoma", "equivalent_identifiers": ["HP:0032228"], "information_content": 100.0}
{"id": "HP:0002108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous pneumothorax", "equivalent_identifiers": ["HP:0002108", "UMLS:C0149781", "MEDDRA:10035763", "SNOMEDCT:80423007"], "information_content": 95.4}
{"id": "MONDO:0003291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leiomyoma cutis", "equivalent_identifiers": ["MONDO:0003291", "DOID:5132", "UMLS:C0346064", "NCIT:C4482", "SNOMEDCT:254767008", "medgen:87533", "HP:0007620"], "information_content": 90.9}
{"id": "MONDO:0021163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney neoplasm", "equivalent_identifiers": ["MONDO:0021163", "EFO:0003865", "UMLS:C0022665", "MEDDRA:10028979", "MEDDRA:10038484", "MEDDRA:10038485", "MEDDRA:10038486", "MEDDRA:10061482", "MEDDRA:10079228", "MEDDRA:10079235", "NCIT:C3150", "SNOMEDCT:126880001", "medgen:5967", "HP:0009726"], "information_content": 61.5}
{"id": "MONDO:0003362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous leiomyosarcoma", "equivalent_identifiers": ["MONDO:0003362", "DOID:5273", "UMLS:C0346067", "NCIT:C4484", "SNOMEDCT:254771006", "medgen:87534", "icd11.foundation:1653448241", "HP:0006755"], "information_content": 100.0}
{"id": "MONDO:0010257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostate cancer, hereditary, X-linked 1", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0010257", "OMIM:300147", "UMLS:C1846279", "medgen:339479"], "information_content": 100.0}
{"id": "MONDO:0958227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly-macrocephaly syndrome", "equivalent_identifiers": ["MONDO:0958227", "OMIM:620712", "UMLS:C5882754", "medgen:1847761"], "information_content": 100.0}
{"id": "MONDO:0010269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coats disease", "equivalent_identifiers": ["MONDO:0010269", "DOID:7765", "OMIM:300216", "orphanet:190", "UMLS:C0154832", "UMLS:C5964756", "MESH:D058456", "MEDDRA:10015901", "MEDDRA:10067489", "SNOMEDCT:25506007", "SNOMEDCT:360455002", "medgen:102319", "icd11.foundation:2032707885", "ICD10:H35.02", "ICD9:362.12", "HP:0007898"], "information_content": 100.0}
{"id": "MONDO:0007813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "superficial epidermolytic ichthyosis", "equivalent_identifiers": ["MONDO:0007813", "DOID:0060877", "OMIM:146800", "orphanet:455", "UMLS:C0432306", "MESH:D053560", "NCIT:C84777", "SNOMEDCT:254169002", "medgen:98153", "icd11.foundation:842172475"], "information_content": 100.0}
{"id": "MONDO:0007239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolytic ichthyosis", "equivalent_identifiers": ["MONDO:0007239", "DOID:4603", "OMIM.PS:113800", "UMLS:C0079153", "UMLS:C0343110", "MESH:D017488", "MEDDRA:10006562", "MEDDRA:10014990", "MEDDRA:10078292", "SNOMEDCT:239071005", "SNOMEDCT:254167000", "medgen:38179", "icd11.foundation:1183730789", "ICD10:Q80.3", "HP:0007475"], "information_content": 84.8}
{"id": "MONDO:0007493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia 4", "equivalent_identifiers": ["MONDO:0007493", "DOID:0090041", "OMIM:128101", "orphanet:98805", "UMLS:C1851943", "UMLS:C1860315", "MESH:C536698", "MESH:C538004", "SNOMEDCT:719276005", "medgen:342124"], "information_content": 100.0}
{"id": "MONDO:0000487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemidystonia", "equivalent_identifiers": ["MONDO:0000487", "DOID:0050846", "UMLS:C1960561", "SNOMEDCT:427232004", "medgen:743329", "HP:0032005"], "information_content": 100.0}
{"id": "MONDO:0054716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 19, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0054716", "DOID:0070281", "OMIM:617800", "UMLS:C4540488", "medgen:1616860"], "information_content": 100.0}
{"id": "MONDO:0010385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked lymphoproliferative disease due to XIAP deficiency", "equivalent_identifiers": ["MONDO:0010385", "DOID:0060706", "OMIM:300635", "orphanet:538934", "UMLS:C1845076", "MESH:C564469", "NCIT:C126295", "SNOMEDCT:1162830004", "medgen:336848"], "information_content": 100.0}
{"id": "HP:0011900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypofibrinogenemia", "equivalent_identifiers": ["HP:0011900", "UMLS:C0553681", "MEDDRA:10016600", "MEDDRA:10020978", "MEDDRA:10051125", "SNOMEDCT:234457009"], "information_content": 100.0}
{"id": "MONDO:0010552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010552", "OMIM:302803", "UMLS:C1844864", "MESH:C538077", "medgen:337105"], "information_content": 100.0}
{"id": "MONDO:0020749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1", "equivalent_identifiers": ["MONDO:0020749", "OMIM:221770", "UMLS:C4721893", "medgen:1648386"], "information_content": 100.0}
{"id": "HP:0001155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the hand", "equivalent_identifiers": ["HP:0001155", "UMLS:C0018564", "MEDDRA:10025526", "MEDDRA:10025527", "MEDDRA:10025529", "MEDDRA:10050557", "MEDDRA:10061194", "SNOMEDCT:299033004", "MESH:D006226"], "information_content": 52.8}
{"id": "MONDO:0005638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agnosia", "equivalent_identifiers": ["MONDO:0005638", "DOID:4090", "EFO:0007136", "UMLS:C0001816", "UMLS:C0150075", "MESH:D000377", "MEDDRA:10048663", "NCIT:C84542", "SNOMEDCT:130985008", "SNOMEDCT:42341009", "medgen:174", "icd11.foundation:1315065296", "ICD10:R48.1", "HP:0010524"], "information_content": 75.0}
{"id": "HP:0031844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Euphoria", "equivalent_identifiers": ["HP:0031844"], "information_content": 100.0}
{"id": "HP:0000719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inappropriate behavior", "equivalent_identifiers": ["HP:0000719", "UMLS:C0233522", "SNOMEDCT:112082005"], "information_content": 88.2}
{"id": "MONDO:0001162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disinhibition", "equivalent_identifiers": ["MONDO:0001162", "DOID:10937", "UMLS:C0021122", "UMLS:C0349280", "UMLS:C0424296", "MESH:D007174", "MEDDRA:10013142", "MEDDRA:10021561", "MEDDRA:10021562", "MEDDRA:10021564", "MEDDRA:10041246", "MEDDRA:10061215", "NCIT:C117253", "NCIT:C34723", "SNOMEDCT:247977003", "SNOMEDCT:66347000", "medgen:5769", "ICD10:F63.9", "ICD9:312.30", "HP:0000734"], "information_content": 76.0}
{"id": "MONDO:0000663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anosognosia", "equivalent_identifiers": ["MONDO:0000663", "DOID:0060133", "UMLS:C0233824", "UMLS:C0234507", "MEDDRA:10068346", "SNOMEDCT:20930002", "SNOMEDCT:24340004", "medgen:536043", "icd11.foundation:833222383", "HP:0000757"], "information_content": 100.0}
{"id": "HP:0002756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pathologic fracture", "equivalent_identifiers": ["HP:0002756", "NCIT:C3047", "UMLS:C0016663", "MEDDRA:10005965", "MEDDRA:10017272", "MEDDRA:10034141", "MEDDRA:10034156", "MEDDRA:10041728", "MEDDRA:10041731", "SNOMEDCT:22640007", "SNOMEDCT:268029009", "MESH:D005598"], "information_content": 73.9}
{"id": "MONDO:0019372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone Cysts", "equivalent_identifiers": ["MONDO:0019372", "orphanet:83468", "UMLS:C0005937", "MESH:D001845", "MEDDRA:10005952", "MEDDRA:10005953", "MEDDRA:10011742", "MEDDRA:10011743", "MEDDRA:10041309", "NCIT:C2904", "SNOMEDCT:112643007", "SNOMEDCT:203465002", "SNOMEDCT:203467005", "SNOMEDCT:66954000", "medgen:2696", "icd11.foundation:987501456", "HP:0012062"], "information_content": 89.4}
{"id": "HP:0000727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal lobe dementia", "equivalent_identifiers": ["HP:0000727", "UMLS:C0338455", "SNOMEDCT:278857002"], "information_content": 100.0}
{"id": "MONDO:0010117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3M syndrome 1", "equivalent_identifiers": ["MONDO:0010117", "OMIM:273750", "UMLS:C2678312", "medgen:395592"], "information_content": 100.0}
{"id": "MONDO:0014878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent ductus arteriosus 2", "equivalent_identifiers": ["MONDO:0014878", "OMIM:617035", "UMLS:C4284595", "medgen:924886"], "information_content": 100.0}
{"id": "MONDO:0023693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maple syrup urine disease type 2", "equivalent_identifiers": ["MONDO:0023693", "OMIM:620699", "UMLS:C1855371", "MESH:C535712", "medgen:343337"], "information_content": 100.0}
{"id": "MONDO:0011972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian hyperstimulation syndrome", "equivalent_identifiers": ["MONDO:0011972", "DOID:5425", "OMIM:608115", "orphanet:64739", "UMLS:C0085083", "UMLS:C3494162", "MESH:D016471", "MEDDRA:10033266", "SNOMEDCT:129635004", "medgen:38966", "icd11.foundation:1216664013"], "information_content": 100.0}
{"id": "MONDO:0012096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2L", "equivalent_identifiers": ["MONDO:0012096", "DOID:0110174", "OMIM:608673", "orphanet:99945", "UMLS:C1837552", "UMLS:C4304673", "SNOMEDCT:719513008", "medgen:324826"], "information_content": 100.0}
{"id": "HP:0003444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: chronic denervation signs", "equivalent_identifiers": ["HP:0003444", "UMLS:C4025614"], "information_content": 100.0}
{"id": "MONDO:0032764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Khan-Khan-Katsanis syndrome", "equivalent_identifiers": ["MONDO:0032764", "OMIM:618460", "UMLS:C5193110", "medgen:1682553"], "information_content": 100.0}
{"id": "HP:0001128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichiasis", "equivalent_identifiers": ["HP:0001128", "UMLS:C0221259", "MEDDRA:10044604", "MEDDRA:10056498", "SNOMEDCT:60332004", "MESH:D058457"], "information_content": 100.0}
{"id": "HP:0011649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patent ductus arteriosus after premature birth", "equivalent_identifiers": ["HP:0011649", "UMLS:C4023248"], "information_content": 100.0}
{"id": "HP:0011668", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral superior vena cava with no bridging vein", "equivalent_identifiers": ["HP:0011668", "UMLS:C4023239"], "information_content": 100.0}
{"id": "MONDO:0010504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 47", "equivalent_identifiers": ["MONDO:0010504", "DOID:0112002", "OMIM:300972", "UMLS:C4310819", "medgen:934786"], "information_content": 100.0}
{"id": "HP:0012301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type II transferrin isoform profile", "equivalent_identifiers": ["HP:0012301", "UMLS:C4021094"], "information_content": 100.0}
{"id": "HP:0012347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal protein N-linked glycosylation", "equivalent_identifiers": ["HP:0012347", "UMLS:C4022944"], "information_content": 79.6}
{"id": "HP:0011967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocupremia", "equivalent_identifiers": ["HP:0011967", "UMLS:C0268070", "MEDDRA:10010956", "MEDDRA:10010957", "MEDDRA:10010960", "MEDDRA:10011613", "MEDDRA:10011615", "MEDDRA:10020975", "MEDDRA:10060383", "SNOMEDCT:19577007"], "information_content": 100.0}
{"id": "HP:0012358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal protein O-linked glycosylation", "equivalent_identifiers": ["HP:0012358", "UMLS:C4022933"], "information_content": 82.1}
{"id": "MONDO:0008311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progeria-short stature-pigmented nevi syndrome", "equivalent_identifiers": ["MONDO:0008311", "OMIM:176690", "orphanet:2959", "UMLS:C1261128", "MESH:C536422", "SNOMEDCT:399947002", "medgen:224702"], "information_content": 100.0}
{"id": "MONDO:0005642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atopic conjunctivitis", "equivalent_identifiers": ["MONDO:0005642", "DOID:11204", "EFO:0007141", "UMLS:C0009766", "MESH:D003233", "MEDDRA:10001709", "MEDDRA:10010744", "MEDDRA:10080573", "NCIT:C34506", "SNOMEDCT:231854006", "SNOMEDCT:473460002", "medgen:3590", "HP:0007879"], "information_content": 95.4}
{"id": "HP:0001054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Numerous nevi", "equivalent_identifiers": ["HP:0001054", "UMLS:C1849677"], "information_content": 100.0}
{"id": "HP:0001367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal joint morphology", "equivalent_identifiers": ["HP:0001367", "UMLS:C0240083"], "information_content": 55.2}
{"id": "HP:0005320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lack of facial subcutaneous fat", "equivalent_identifiers": ["HP:0005320", "UMLS:C3277426"], "information_content": 100.0}
{"id": "MONDO:0003749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal disorder", "equivalent_identifiers": ["MONDO:0003749", "DOID:6050", "EFO:0009544", "UMLS:C0014852", "UMLS:C0151970", "MESH:D004935", "MEDDRA:10015379", "MEDDRA:10015380", "MEDDRA:10015451", "MEDDRA:10015472", "MEDDRA:10030165", "MEDDRA:10030166", "MEDDRA:10030201", "MEDDRA:10030203", "MEDDRA:10045302", "MEDDRA:10045323", "MEDDRA:10045327", "MEDDRA:10045781", "MEDDRA:10045815", "MEDDRA:10055486", "MEDDRA:10056090", "MEDDRA:10056098", "MEDDRA:10061318", "NCIT:C3027", "SNOMEDCT:30811009", "SNOMEDCT:37657006", "medgen:8693", "ICD10:K22.9", "ICD9:530.9", "HP:0004791"], "information_content": 62.1}
{"id": "MONDO:0007756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperkeratosis lenticularis perstans", "equivalent_identifiers": ["MONDO:0007756", "OMIM:144150", "orphanet:409", "UMLS:C0263420", "MESH:C538377", "MEDDRA:10071311", "MEDDRA:10071312", "SNOMEDCT:28488007", "medgen:120477", "HP:0007570"], "information_content": 100.0}
{"id": "MONDO:0008115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Feingold syndrome type 1", "equivalent_identifiers": ["MONDO:0008115", "OMIM:164280", "orphanet:391641", "UMLS:C4551774", "MEDDRA:10086639", "SNOMEDCT:702431004", "medgen:1637716"], "information_content": 100.0}
{"id": "MONDO:0009476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jejunal Atresia", "equivalent_identifiers": ["MONDO:0009476", "OMIM:243600", "orphanet:1201", "UMLS:C0266172", "UMLS:C0266175", "MESH:C538260", "MEDDRA:10010626", "NCIT:C101027", "NCIT:C98828", "SNOMEDCT:204702007", "SNOMEDCT:360491009", "SNOMEDCT:84296002", "medgen:78590", "icd11.foundation:1949256262", "HP:0005235"], "information_content": 90.9}
{"id": "MONDO:0011514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricuspid atresia", "equivalent_identifiers": ["MONDO:0011514", "DOID:0080169", "OMIM:605067", "orphanet:1209", "UMLS:C0243002", "MESH:D018785", "MEDDRA:10049767", "NCIT:C85202", "SNOMEDCT:253455004", "SNOMEDCT:63042009", "medgen:67034", "icd11.foundation:845891723", "HP:0011662"], "information_content": 92.8}
{"id": "MONDO:0008183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "annular pancreas", "equivalent_identifiers": ["MONDO:0008183", "DOID:0060850", "OMIM:167750", "orphanet:675", "UMLS:C0149955", "MESH:C536376", "MEDDRA:10071757", "NCIT:C98813", "SNOMEDCT:40315008", "medgen:56211", "icd11.foundation:1311285827", "ICD10:Q45.1", "HP:0001734"], "information_content": 100.0}
{"id": "HP:0002589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal atresia", "equivalent_identifiers": ["HP:0002589", "UMLS:C4025697"], "information_content": 81.7}
{"id": "MONDO:0011857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 3", "equivalent_identifiers": ["MONDO:0011857", "OMIM:607554", "UMLS:C1837014", "MESH:C563817", "medgen:373232"], "information_content": 100.0}
{"id": "MONDO:0100211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth hormone insensitivity with immune dysregulation 1, autosomal recessive", "equivalent_identifiers": ["MONDO:0100211", "DOID:0080836", "OMIM:245590", "orphanet:220465", "UMLS:C1855548", "UMLS:C4510411", "UMLS:C5435698", "MESH:C537871", "SNOMEDCT:724179008", "medgen:1734133"], "information_content": 100.0}
{"id": "MONDO:0009537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoid interstitial pneumonia", "equivalent_identifiers": ["MONDO:0009537", "DOID:0050159", "OMIM:247610", "orphanet:79128", "UMLS:C0264511", "MESH:C562489", "MEDDRA:10062997", "NCIT:C27558", "SNOMEDCT:44274007", "medgen:82682", "icd11.foundation:1140418798", "HP:0006527"], "information_content": 100.0}
{"id": "MONDO:0007178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aurocephalosyndactyly", "equivalent_identifiers": ["MONDO:0007178", "OMIM:109050", "UMLS:C1862380", "MESH:C566235", "medgen:354732", "icd11.foundation:1849836237"], "information_content": 100.0}
{"id": "MONDO:0014648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Al-Raqad syndrome", "equivalent_identifiers": ["MONDO:0014648", "OMIM:616459", "UMLS:C4085595", "medgen:897610"], "information_content": 100.0}
{"id": "MONDO:0010500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked, syndromic 33", "equivalent_identifiers": ["MONDO:0010500", "OMIM:300966", "UMLS:C4225418", "SNOMEDCT:1237420004", "medgen:895979"], "information_content": 100.0}
{"id": "HP:0004696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talipes cavus equinovarus", "equivalent_identifiers": ["HP:0004696", "UMLS:C1832342"], "information_content": 100.0}
{"id": "HP:0009894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened ears", "equivalent_identifiers": ["HP:0009894", "UMLS:C4024168"], "information_content": 95.4}
{"id": "HP:0011822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad chin", "equivalent_identifiers": ["HP:0011822", "UMLS:C4023172"], "information_content": 100.0}
{"id": "HP:0100797", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toenail dysplasia", "equivalent_identifiers": ["HP:0100797", "UMLS:C3276623"], "information_content": 100.0}
{"id": "HP:0007375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal septum pellucidum morphology", "equivalent_identifiers": ["HP:0007375", "UMLS:C4024894"], "information_content": 84.8}
{"id": "MONDO:0012307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial scaphocephaly syndrome, McGillivray type", "equivalent_identifiers": ["MONDO:0012307", "OMIM:609579", "orphanet:168624", "UMLS:C1865070", "MESH:C566511", "medgen:355365", "icd11.foundation:512057922"], "information_content": 100.0}
{"id": "MONDO:0007977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesomelic dysplasia, Kantaputra type", "equivalent_identifiers": ["MONDO:0007977", "OMIM:156232", "orphanet:1836", "UMLS:C1835009", "MESH:C535547", "SNOMEDCT:719397009", "medgen:331880"], "information_content": 95.4}
{"id": "MONDO:0014869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome", "equivalent_identifiers": ["MONDO:0014869", "OMIM:617021", "orphanet:528091", "UMLS:C4310761", "SNOMEDCT:1237349008", "medgen:934728"], "information_content": 100.0}
{"id": "HP:0025671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal pericardial effusion", "equivalent_identifiers": ["HP:0025671", "UMLS:C3532165", "SNOMEDCT:462164009"], "information_content": 100.0}
{"id": "MONDO:0000467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "second-degree atrioventricular block", "equivalent_identifiers": ["MONDO:0000467", "DOID:0050822", "UMLS:C0264906", "UMLS:C1621824", "MEDDRA:10000022", "MEDDRA:10003675", "MEDDRA:10003677", "MEDDRA:10003851", "MEDDRA:10019259", "MEDDRA:10019268", "NCIT:C111119", "SNOMEDCT:195039008", "SNOMEDCT:195042002", "medgen:75546", "HP:0011706"], "information_content": 90.9}
{"id": "HP:0001978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extramedullary hematopoiesis", "equivalent_identifiers": ["HP:0001978", "NCIT:C41235", "UMLS:C1292120", "UMLS:C2613439", "MEDDRA:10063827", "MEDDRA:10063828", "SNOMEDCT:124958002", "SNOMEDCT:42952007"], "information_content": 78.5}
{"id": "HP:0002623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overriding aorta", "equivalent_identifiers": ["HP:0002623", "NCIT:C124569", "UMLS:C0011818", "UMLS:C0265886", "SNOMEDCT:63934006"], "information_content": 85.5}
{"id": "MONDO:0032669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 19", "equivalent_identifiers": ["MONDO:0032669", "DOID:0111886", "OMIM:618312", "UMLS:C5193021", "medgen:1683070"], "information_content": 100.0}
{"id": "MONDO:0007702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart-hand syndrome type 3", "equivalent_identifiers": ["MONDO:0007702", "OMIM:140450", "orphanet:1342", "UMLS:C1841657", "MESH:C535853", "SNOMEDCT:721013001", "medgen:333883", "icd11.foundation:1878745129"], "information_content": 100.0}
{"id": "MONDO:0018177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glioblastoma", "equivalent_identifiers": ["MONDO:0018177", "DOID:3068", "orphanet:360", "EFO:0000519", "UMLS:C0017636", "UMLS:C1621958", "UMLS:CN227279", "MESH:D005909", "MEDDRA:10018336", "MEDDRA:10018337", "NCIT:C129295", "NCIT:C3058", "SNOMEDCT:1163375002", "SNOMEDCT:393563007", "SNOMEDCT:63634009", "medgen:42228", "HP:0012174"], "information_content": 69.7}
{"id": "MONDO:0009420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hypergonadotropic hypogonadism-partial alopecia syndrome", "equivalent_identifiers": ["MONDO:0009420", "OMIM:241090", "orphanet:2232", "UMLS:C2673480", "UMLS:C2931374", "MESH:C536949", "MESH:C567109", "SNOMEDCT:719275009", "medgen:388650"], "information_content": 100.0}
{"id": "MONDO:0014288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 21", "equivalent_identifiers": ["MONDO:0014288", "DOID:0110990", "OMIM:615636", "UMLS:C3810212", "medgen:816542"], "information_content": 100.0}
{"id": "HP:0034302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megalopapilla", "equivalent_identifiers": ["HP:0034302", "UMLS:C4302055", "MEDDRA:10085457", "SNOMEDCT:723131006"], "information_content": 100.0}
{"id": "HP:0007291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior fossa cyst", "equivalent_identifiers": ["HP:0007291", "UMLS:C1857353"], "information_content": 92.8}
{"id": "HP:0009932", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single naris", "equivalent_identifiers": ["HP:0009932", "UMLS:C0685682", "SNOMEDCT:95266003"], "information_content": 100.0}
{"id": "MONDO:0033569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 49", "equivalent_identifiers": ["MONDO:0033569", "DOID:0112110", "OMIM:619024", "UMLS:C5436616", "medgen:1762338"], "information_content": 100.0}
{"id": "MONDO:0100294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex II deficiency, nuclear type 1", "equivalent_identifiers": ["MONDO:0100294", "DOID:0060537", "OMIM:252011", "orphanet:3208", "UMLS:C1291270", "UMLS:C1855008", "UMLS:C4020801", "UMLS:C4024705", "UMLS:C5700310", "MESH:C565375", "NCIT:C187258", "SNOMEDCT:124165006", "SNOMEDCT:237989003", "medgen:1814582", "ICD10:G71.3", "HP:0008314"], "information_content": 100.0}
{"id": "MONDO:0013786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 16", "equivalent_identifiers": ["MONDO:0013786", "DOID:0111022", "OMIM:614500", "UMLS:C3281045", "medgen:482675"], "information_content": 100.0}
{"id": "HP:0025147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beaten bronze macular sheen", "equivalent_identifiers": ["HP:0025147", "UMLS:C4476614"], "information_content": 100.0}
{"id": "MONDO:0015993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy", "equivalent_identifiers": ["MONDO:0015993", "DOID:0050572", "OMIM.PS:120970", "orphanet:1872", "UMLS:C4085590", "MESH:D000071700", "MEDDRA:10085521", "medgen:896366", "ICD10:H35.5", "HP:0000548"], "information_content": 76.9}
{"id": "MONDO:0001134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "essential hypertension", "equivalent_identifiers": ["MONDO:0001134", "DOID:10825", "OMIM:145500", "UMLS:C0085580", "MESH:D000075222", "MEDDRA:10015488", "MEDDRA:10015491", "MEDDRA:10036695", "MEDDRA:10045866", "NCIT:C3478", "SNOMEDCT:59621000", "medgen:88442", "icd11.foundation:761947693", "ICD9:401"], "information_content": 83.1}
{"id": "HP:0005117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated diastolic blood pressure", "equivalent_identifiers": ["HP:0005117", "UMLS:C1840375"], "information_content": 100.0}
{"id": "HP:0004972", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated mean arterial pressure", "equivalent_identifiers": ["HP:0004972", "UMLS:C1840376"], "information_content": 100.0}
{"id": "HP:0004421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated systolic blood pressure", "equivalent_identifiers": ["HP:0004421", "UMLS:C1840374"], "information_content": 95.4}
{"id": "MONDO:0013662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barrett esophagus", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0013662", "DOID:9206", "OMIM:614266", "EFO:0000280", "UMLS:C0004763", "UMLS:C2741633", "MESH:D001471", "MEDDRA:10004134", "MEDDRA:10004135", "MEDDRA:10004137", "MEDDRA:10053999", "MEDDRA:10056095", "MEDDRA:10072776", "NCIT:C2891", "SNOMEDCT:196609006", "SNOMEDCT:302914006", "medgen:2551", "ICD10:K22.7", "ICD9:530.85", "HP:0100580"], "information_content": 87.2}
{"id": "MONDO:0019086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carcinoma of esophagus", "equivalent_identifiers": ["MONDO:0019086", "DOID:1107", "orphanet:70482", "EFO:0002916", "UMLS:C0152018", "MEDDRA:10007425", "MEDDRA:10007444", "MEDDRA:10007445", "MEDDRA:10015366", "MEDDRA:10015372", "MEDDRA:10030155", "MEDDRA:10030157", "NCIT:C3513", "SNOMEDCT:372138000", "medgen:56256", "HP:0011459"], "information_content": 65.6}
{"id": "MONDO:0013292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 4q21 deletion syndrome", "equivalent_identifiers": ["MONDO:0013292", "DOID:0060420", "OMIM:613509", "orphanet:238750", "UMLS:C3150756", "UMLS:C4304530", "SNOMEDCT:719660008", "medgen:462106"], "information_content": 100.0}
{"id": "MONDO:0030677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1I", "equivalent_identifiers": ["MONDO:0030677", "OMIM:619742", "UMLS:C5676914", "medgen:1811493"], "information_content": 100.0}
{"id": "HP:0031058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impairment of activities of daily living", "equivalent_identifiers": ["HP:0031058", "UMLS:C4476938"], "information_content": 83.6}
{"id": "MONDO:0034022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bethlem myopathy 2", "equivalent_identifiers": ["MONDO:0034022", "OMIM:616471", "orphanet:536516", "UMLS:C4225313", "medgen:907426"], "information_content": 100.0}
{"id": "MONDO:0007708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kasabach-Merritt syndrome", "equivalent_identifiers": ["MONDO:0007708", "OMIM:141000", "orphanet:2330", "UMLS:C0221025", "MESH:D059885", "MEDDRA:10051768", "MEDDRA:10051769", "MEDDRA:10058423", "NCIT:C3821", "SNOMEDCT:86635005", "medgen:65122", "icd11.foundation:2059601885"], "information_content": 100.0}
{"id": "HP:0001937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microangiopathic hemolytic anemia", "equivalent_identifiers": ["HP:0001937", "UMLS:C0221021", "MEDDRA:10027527", "MEDDRA:10055215", "SNOMEDCT:51071000"], "information_content": 100.0}
{"id": "MONDO:0010089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated sulfite oxidase deficiency", "equivalent_identifiers": ["MONDO:0010089", "DOID:0111270", "OMIM:272300", "orphanet:99731", "UMLS:C0268624", "MESH:C538141", "SNOMEDCT:367368009", "medgen:78695", "icd11.foundation:963607692", "HP:0003643"], "information_content": 100.0}
{"id": "HP:0032350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sulfocysteinuria", "equivalent_identifiers": ["HP:0032350", "UMLS:C2931746", "SNOMEDCT:40873003"], "information_content": 100.0}
{"id": "HP:0003359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary sulfate", "equivalent_identifiers": ["HP:0003359", "UMLS:C1848958"], "information_content": 100.0}
{"id": "MONDO:0008316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to protein C deficiency, autosomal dominant", "equivalent_identifiers": ["MONDO:0008316", "DOID:0111909", "OMIM:176860", "UMLS:C2674321", "UMLS:C2674322", "MESH:C567163", "MESH:C567164", "SNOMEDCT:1217410004", "medgen:436138"], "information_content": 100.0}
{"id": "MONDO:0002305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia", "equivalent_identifiers": ["MONDO:0002305", "DOID:2452", "EFO:0009315", "UMLS:C0398623", "MESH:D019851", "MEDDRA:10020608", "MEDDRA:10057396", "MEDDRA:10075816", "NCIT:C84479", "SNOMEDCT:234467004", "SNOMEDCT:76612001", "medgen:98306", "icd11.foundation:1733531851", "HP:0100724"], "information_content": 78.5}
{"id": "HP:0002625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep venous thrombosis", "equivalent_identifiers": ["HP:0002625", "EFO:0003907", "NCIT:C49343", "UMLS:C0149871", "MEDDRA:10012107", "MEDDRA:10013877", "MEDDRA:10043642", "MEDDRA:10051055", "SNOMEDCT:128053003"], "information_content": 92.8}
{"id": "HP:0001038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warfarin-induced skin necrosis", "equivalent_identifiers": ["HP:0001038", "UMLS:C1867638"], "information_content": 100.0}
{"id": "MONDO:0013791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to protein S deficiency, autosomal recessive", "equivalent_identifiers": ["MONDO:0013791", "OMIM:614514", "UMLS:C3281092", "medgen:482722"], "information_content": 100.0}
{"id": "HP:0004420", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arterial thrombosis", "equivalent_identifiers": ["HP:0004420", "NCIT:C98826", "UMLS:C0151942", "MEDDRA:10003178", "MEDDRA:10003181", "MEDDRA:10043611", "SNOMEDCT:65198009"], "information_content": 92.8}
{"id": "MONDO:0010160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tyrosinemia type II", "equivalent_identifiers": ["MONDO:0010160", "DOID:0050725", "OMIM:276600", "orphanet:28378", "UMLS:C0268487", "MEDDRA:10069460", "MEDDRA:10069463", "NCIT:C129032", "SNOMEDCT:124287008", "SNOMEDCT:4887000", "medgen:75687", "icd11.foundation:1900229795"], "information_content": 100.0}
{"id": "HP:0003231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertyrosinemia", "equivalent_identifiers": ["HP:0003231", "UMLS:C1879362", "SNOMEDCT:56595005"], "information_content": 89.4}
{"id": "HP:0003161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "4-Hydroxyphenylpyruvic aciduria", "equivalent_identifiers": ["HP:0003161", "UMLS:C1848678"], "information_content": 100.0}
{"id": "HP:6000479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine N-acetyltyrosine level", "equivalent_identifiers": ["HP:6000479", "UMLS:C5937247"], "information_content": 100.0}
{"id": "HP:0007812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Herpetiform corneal ulceration", "equivalent_identifiers": ["HP:0007812", "UMLS:C4020911"], "information_content": 100.0}
{"id": "MONDO:0011552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 10", "equivalent_identifiers": ["MONDO:0011552", "DOID:0070086", "OMIM:605419", "UMLS:C0036344", "UMLS:C0543918", "MESH:D012560", "MEDDRA:10007780", "MEDDRA:10007782", "MEDDRA:10039637", "NCIT:C35003", "SNOMEDCT:191542003", "medgen:107776"], "information_content": 100.0}
{"id": "HP:0005324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disturbance of facial expression", "equivalent_identifiers": ["HP:0005324", "UMLS:C4025215"], "information_content": 89.4}
{"id": "HP:0000725", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Psychotic episodes", "equivalent_identifiers": ["HP:0000725", "UMLS:C0338614", "MEDDRA:10037254"], "information_content": 100.0}
{"id": "MONDO:0012813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 29", "equivalent_identifiers": ["MONDO:0012813", "DOID:0110378", "OMIM:612165", "UMLS:C2677325", "MESH:C567403", "medgen:393710"], "information_content": 100.0}
{"id": "MONDO:0012219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type", "equivalent_identifiers": ["MONDO:0012219", "DOID:0112291", "OMIM:609223", "UMLS:C1836584", "MESH:C563772", "medgen:373126"], "information_content": 100.0}
{"id": "MONDO:0016761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia", "equivalent_identifiers": ["MONDO:0016761", "DOID:0112280", "UMLS:C0038015", "medgen:20916", "HP:0002655"], "information_content": 71.9}
{"id": "MONDO:0971151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 122", "equivalent_identifiers": ["MONDO:0971151", "DOID:0061088", "OMIM:620869", "UMLS:C5935632", "medgen:1860800"], "information_content": 100.0}
{"id": "HP:0410378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased naive CD4-positive T cell proportion", "equivalent_identifiers": ["HP:0410378", "UMLS:C5139539"], "information_content": 100.0}
{"id": "MONDO:0009451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thymic aplasia", "equivalent_identifiers": ["MONDO:0009451", "DOID:2012", "OMIM:242700", "orphanet:83471", "UMLS:C0152094", "UMLS:C0685894", "UMLS:C1744558", "UMLS:C4531018", "MESH:C536288", "MEDDRA:10029397", "MEDDRA:10043662", "MEDDRA:10048801", "SNOMEDCT:1003550007", "SNOMEDCT:398055000", "SNOMEDCT:55602000", "SNOMEDCT:702623002", "SNOMEDCT:91918005", "medgen:101814", "icd11.foundation:215376282", "ICD10:D81.4", "ICD9:279.13", "HP:0005359"], "information_content": 100.0}
{"id": "HP:0410377", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased naive CD8 T cell proportion", "equivalent_identifiers": ["HP:0410377", "UMLS:C5139538"], "information_content": 100.0}
{"id": "HP:0031430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oligoclonal T cell expansion", "equivalent_identifiers": ["HP:0031430", "UMLS:C4479459"], "information_content": 100.0}
{"id": "HP:0032126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased unswitched memory B cell proportion", "equivalent_identifiers": ["HP:0032126", "UMLS:C5139146"], "information_content": 100.0}
{"id": "MONDO:0010902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, Reardon type", "equivalent_identifiers": ["MONDO:0010902", "OMIM:600561", "orphanet:163662", "UMLS:C1833603", "UMLS:C4305148", "MESH:C563472", "SNOMEDCT:718764004", "medgen:322238", "icd11.foundation:1019322569"], "information_content": 100.0}
{"id": "HP:0005667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Os odontoideum", "equivalent_identifiers": ["HP:0005667", "UMLS:C2919848", "MEDDRA:10081925", "SNOMEDCT:445242006"], "information_content": 92.8}
{"id": "HP:0003467", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atlantoaxial instability", "equivalent_identifiers": ["HP:0003467", "UMLS:C0410653", "MEDDRA:10063580", "SNOMEDCT:202820009"], "information_content": 100.0}
{"id": "MONDO:0013675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 2", "equivalent_identifiers": ["MONDO:0013675", "DOID:0080134", "OMIM:614299", "orphanet:401874", "UMLS:C3280378", "SNOMEDCT:1208486005", "medgen:482008"], "information_content": 100.0}
{"id": "HP:0008972", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased activity of mitochondrial respiratory chain", "equivalent_identifiers": ["HP:0008972", "UMLS:C1835995", "UMLS:C3276441", "UMLS:C4024609"], "information_content": 88.2}
{"id": "HP:0002154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperglycinemia", "equivalent_identifiers": ["HP:0002154", "UMLS:C0268559", "MEDDRA:10080883", "MEDDRA:10080891", "SNOMEDCT:64654004"], "information_content": 92.8}
{"id": "HP:6000829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue glycine cleavage enzyme activity", "equivalent_identifiers": ["HP:6000829", "UMLS:C5937550"], "information_content": 100.0}
{"id": "HP:0500230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF glycine concentration", "equivalent_identifiers": ["HP:0500230", "UMLS:C5139615"], "information_content": 100.0}
{"id": "MONDO:0054780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "elliptocytosis 3", "equivalent_identifiers": ["MONDO:0054780", "OMIM:617948", "UMLS:C1866810", "UMLS:C4016380", "MESH:C566678", "medgen:357139"], "information_content": 100.0}
{"id": "HP:0001046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent jaundice", "equivalent_identifiers": ["HP:0001046", "UMLS:C4025805"], "information_content": 100.0}
{"id": "HP:0004870", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic hemolytic anemia", "equivalent_identifiers": ["HP:0004870", "UMLS:C1387532", "SNOMEDCT:707480001"], "information_content": 100.0}
{"id": "MONDO:0009948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyropoikilocytosis, hereditary", "equivalent_identifiers": ["MONDO:0009948", "DOID:0061026", "OMIM:266140", "UMLS:C0520739", "MESH:C563004", "MEDDRA:10086642", "NCIT:C98943", "SNOMEDCT:9434008", "medgen:141708", "HP:0004839"], "information_content": 100.0}
{"id": "MONDO:0859265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with epilepsy and brain atrophy", "equivalent_identifiers": ["MONDO:0859265", "OMIM:619971", "UMLS:C5774184", "medgen:1823957"], "information_content": 100.0}
{"id": "HP:0025357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erratic myoclonus", "equivalent_identifiers": ["HP:0025357", "UMLS:C4476727"], "information_content": 100.0}
{"id": "MONDO:0044325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia, complementation group W", "equivalent_identifiers": ["MONDO:0044325", "DOID:0060978", "OMIM:617784", "UMLS:C4521564", "medgen:1621245"], "information_content": 100.0}
{"id": "HP:0031689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megakaryocyte dysplasia", "equivalent_identifiers": ["HP:0031689", "UMLS:C4540467", "MEDDRA:10087436"], "information_content": 100.0}
{"id": "HP:0006433", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial dysplasia", "equivalent_identifiers": ["HP:0006433", "UMLS:C4025046", "MEDDRA:10089671"], "information_content": 92.8}
{"id": "MONDO:0011736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cree intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0011736", "OMIM:606851", "UMLS:C1847361", "MESH:C564654", "medgen:335673"], "information_content": 100.0}
{"id": "HP:0006712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the ribs", "equivalent_identifiers": ["HP:0006712", "UMLS:C1847363"], "information_content": 84.8}
{"id": "MONDO:0008265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic liver disease 1", "equivalent_identifiers": ["MONDO:0008265", "DOID:0060980", "OMIM:174050", "UMLS:C0887850", "UMLS:C4255088", "NCIT:C123167", "SNOMEDCT:716196007", "medgen:165781"], "information_content": 100.0}
{"id": "MONDO:0014078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 15", "equivalent_identifiers": ["MONDO:0014078", "DOID:0111053", "OMIM:615193", "UMLS:C3554663", "medgen:767577"], "information_content": 100.0}
{"id": "HP:0031126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired clot retraction", "equivalent_identifiers": ["HP:0031126", "UMLS:C4476985"], "information_content": 100.0}
{"id": "MONDO:0009620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Say-Barber-Miller syndrome", "equivalent_identifiers": ["MONDO:0009620", "OMIM:251240", "orphanet:3132", "UMLS:C1855078", "UMLS:C2931267", "MESH:C536618", "MESH:C565381", "SNOMEDCT:721903007", "medgen:343258"], "information_content": 100.0}
{"id": "MONDO:0015698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient hypogammaglobulinemia of infancy", "equivalent_identifiers": ["MONDO:0015698", "DOID:624", "orphanet:169139", "UMLS:C0272238", "UMLS:C4020822", "MEDDRA:10044388", "MEDDRA:10054672", "NCIT:C27071", "SNOMEDCT:88714009", "medgen:124421", "icd11.foundation:1686370790", "ICD10:D80.7", "HP:0005432"], "information_content": 100.0}
{"id": "MONDO:0007151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arms, malformation of", "equivalent_identifiers": ["MONDO:0007151", "OMIM:107900", "UMLS:C1862534", "MESH:C566258", "medgen:350694"], "information_content": 100.0}
{"id": "MONDO:0012677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 4", "equivalent_identifiers": ["MONDO:0012677", "OMIM:611493", "UMLS:C1862394", "MESH:C566244", "medgen:400041"], "information_content": 100.0}
{"id": "MONDO:0020820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis type 2B1", "equivalent_identifiers": ["MONDO:0020820", "DOID:0111600", "OMIM:601680", "UMLS:C5193014", "medgen:1676961"], "information_content": 100.0}
{"id": "HP:0001193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviation of the hand or of fingers of the hand", "equivalent_identifiers": ["HP:0001193", "UMLS:C4048199"], "information_content": 85.5}
{"id": "MONDO:0008281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyposis, intestinal, scattered and discrete", "equivalent_identifiers": ["MONDO:0008281", "OMIM:175400", "UMLS:C1868006", "medgen:358114"], "information_content": 100.0}
{"id": "HP:0005238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Discrete intestinal polyps", "equivalent_identifiers": ["HP:0005238", "UMLS:C4025229"], "information_content": 100.0}
{"id": "MONDO:0958009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 10, autosomal recessive", "equivalent_identifiers": ["MONDO:0958009", "OMIM:620666", "UMLS:C5882738", "medgen:1851662"], "information_content": 100.0}
{"id": "MONDO:0957318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrolithiasis, calcium oxalate", "equivalent_identifiers": ["MONDO:0957318", "OMIM:167030", "OMIM.PS:167030", "EFO:0009065", "UMLS:C1833683", "UMLS:C4280806", "UMLS:C5779632", "MESH:C563477", "NCIT:C123242", "SNOMEDCT:444717006", "medgen:318935", "HP:0008672"], "information_content": 92.8}
{"id": "MONDO:0030697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 28, autosomal recessive", "equivalent_identifiers": ["MONDO:0030697", "OMIM:619781", "UMLS:C5676935", "medgen:1806812"], "information_content": 100.0}
{"id": "MONDO:0060702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, di rocco type", "equivalent_identifiers": ["MONDO:0060702", "OMIM:617974", "UMLS:C4693799", "medgen:1646454"], "information_content": 100.0}
{"id": "HP:0008833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular acetabular roof", "equivalent_identifiers": ["HP:0008833", "UMLS:C1834975"], "information_content": 100.0}
{"id": "MONDO:0859262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACCES syndrome", "equivalent_identifiers": ["MONDO:0859262", "OMIM:619959", "UMLS:C5677019", "medgen:1804308"], "information_content": 100.0}
{"id": "MONDO:0016576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectrodactyly", "equivalent_identifiers": ["MONDO:0016576", "DOID:0090020", "OMIM.PS:183600", "orphanet:2440", "UMLS:C0265554", "MESH:C574275", "MEDDRA:10079827", "NCIT:C75000", "SNOMEDCT:13624003", "SNOMEDCT:81208006", "medgen:78566", "HP:0100257"], "information_content": 87.2}
{"id": "MONDO:0010421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bruton-type agammaglobulinemia", "equivalent_identifiers": ["MONDO:0010421", "DOID:14179", "OMIM:300755", "orphanet:47", "UMLS:C0221026", "UMLS:C0241932", "MESH:C537409", "MESH:C562478", "MEDDRA:10049485", "MEDDRA:10060360", "MEDDRA:10086890", "MEDDRA:10086891", "NCIT:C3822", "SNOMEDCT:65880007", "medgen:65123"], "information_content": 100.0}
{"id": "MONDO:0004596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cor pulmonale", "equivalent_identifiers": ["MONDO:0004596", "DOID:8515", "UMLS:C0034072", "MESH:D011660", "MEDDRA:10010968", "MEDDRA:10010971", "MEDDRA:10013106", "MEDDRA:10019275", "NCIT:C196110", "SNOMEDCT:274096000", "SNOMEDCT:83291003", "medgen:18765", "icd11.foundation:738218522", "ICD10:I27.81", "HP:0001648"], "information_content": 88.2}
{"id": "HP:0410303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine", "equivalent_identifiers": ["HP:0410303", "UMLS:C5139466"], "information_content": 100.0}
{"id": "HP:0002732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lymph node hypoplasia", "equivalent_identifiers": ["HP:0002732", "UMLS:C1865377", "UMLS:C4025683"], "information_content": 95.4}
{"id": "MONDO:0015265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiolitis obliterans syndrome", "equivalent_identifiers": ["MONDO:0015265", "DOID:2799", "orphanet:1303", "EFO:0007183", "UMLS:C0006272", "UMLS:C2350875", "MESH:D001989", "MEDDRA:10029888", "MEDDRA:10049202", "NCIT:C62580", "SNOMEDCT:40100001", "medgen:665", "icd11.foundation:592711730", "HP:0011946"], "information_content": 92.8}
{"id": "MONDO:0012138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy type B6", "equivalent_identifiers": ["MONDO:0012138", "DOID:0110637", "OMIM:608840", "UMLS:C1837229", "MESH:C563844", "medgen:373284"], "information_content": 100.0}
{"id": "MONDO:0030714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, IIA 22", "equivalent_identifiers": ["MONDO:0030714", "OMIM:619795", "UMLS:C5676943", "medgen:1801631"], "information_content": 100.0}
{"id": "HP:0005864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoarthrosis", "equivalent_identifiers": ["HP:0005864", "UMLS:C0033785", "MEDDRA:10048617", "SNOMEDCT:31511007", "SNOMEDCT:410818009", "MESH:D011542"], "information_content": 92.8}
{"id": "HP:0031429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating osteocalcin level", "equivalent_identifiers": ["HP:0031429", "UMLS:C4531125"], "information_content": 100.0}
{"id": "HP:0005877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple small vertebral fractures", "equivalent_identifiers": ["HP:0005877", "UMLS:C4025119"], "information_content": 100.0}
{"id": "HP:0005855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple prenatal fractures", "equivalent_identifiers": ["HP:0005855", "UMLS:C1853171"], "information_content": 100.0}
{"id": "MONDO:0054729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 25", "equivalent_identifiers": ["MONDO:0054729", "DOID:0111920", "OMIM:617960", "UMLS:C4693765", "medgen:1646677"], "information_content": 100.0}
{"id": "HP:0030974", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cryptozoospermia", "equivalent_identifiers": ["HP:0030974", "UMLS:C3279550"], "information_content": 100.0}
{"id": "MONDO:0859313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with speech impairment and with or without seizures", "equivalent_identifiers": ["MONDO:0859313", "OMIM:620114", "UMLS:C5774252", "medgen:1824025"], "information_content": 100.0}
{"id": "MONDO:0009528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chylomicron retention disease", "equivalent_identifiers": ["MONDO:0009528", "DOID:0060357", "OMIM:246700", "orphanet:71", "UMLS:C0795956", "MESH:C535460", "SNOMEDCT:702364003", "medgen:208651", "icd11.foundation:1447416932", "ICD10:E78.3"], "information_content": 100.0}
{"id": "HP:0034787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accumulation of lipid droplets in small-bowel enterocytes", "equivalent_identifiers": ["HP:0034787", "UMLS:C5826662"], "information_content": 100.0}
{"id": "MONDO:0013398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acne inversa, familial, 3", "equivalent_identifiers": ["MONDO:0013398", "OMIM:613737", "UMLS:C3151038", "medgen:462388"], "information_content": 100.0}
{"id": "HP:0012322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perifolliculitis", "equivalent_identifiers": ["HP:0012322", "UMLS:C0263006", "SNOMEDCT:83341004"], "information_content": 100.0}
{"id": "HP:0011132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic furunculosis", "equivalent_identifiers": ["HP:0011132", "UMLS:C4023521"], "information_content": 100.0}
{"id": "HP:0100838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent cutaneous abscess formation", "equivalent_identifiers": ["HP:0100838", "UMLS:C4021957"], "information_content": 100.0}
{"id": "MONDO:0009862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dihydropteridine reductase deficiency", "equivalent_identifiers": ["MONDO:0009862", "DOID:0081130", "OMIM:261630", "orphanet:226", "UMLS:C0268465", "NCIT:C138173", "SNOMEDCT:58256000", "medgen:75682", "icd11.foundation:1931239861"], "information_content": 100.0}
{"id": "HP:0003781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excessive salivation", "equivalent_identifiers": ["HP:0003781"], "information_content": 95.4}
{"id": "HP:6000966", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished tissue dihydropteridine reductase activity", "equivalent_identifiers": ["HP:6000966", "UMLS:C5970310"], "information_content": 100.0}
{"id": "MONDO:0016543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "equivalent_identifiers": ["MONDO:0016543", "orphanet:238583", "UMLS:C0751435", "UMLS:C0751436", "MEDDRA:10069116", "MEDDRA:10084106", "MEDDRA:10084114", "SNOMEDCT:68528007", "SNOMEDCT:68724006", "medgen:199656", "HP:0004923"], "information_content": 89.4}
{"id": "MONDO:0014137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "precocious puberty, central, 2", "inheritance": "Autosomal dominant inheritance with maternal imprinting", "equivalent_identifiers": ["MONDO:0014137", "DOID:0112309", "OMIM:615346", "UMLS:C3809199", "MESH:C000726751", "medgen:815529"], "information_content": 100.0}
{"id": "MONDO:0032857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea 11, malabsorptive, congenital", "equivalent_identifiers": ["MONDO:0032857", "OMIM:618662", "UMLS:C5231449", "medgen:1684754"], "information_content": 100.0}
{"id": "MONDO:0012044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, lattice type 3A", "equivalent_identifiers": ["MONDO:0012044", "OMIM:608471", "UMLS:C1837974", "MESH:C563923", "medgen:332989"], "information_content": 100.0}
{"id": "MONDO:0014821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex lethal osteochondrodysplasia", "equivalent_identifiers": ["MONDO:0014821", "OMIM:616897", "orphanet:457378", "UMLS:C4225162", "SNOMEDCT:1228858000", "medgen:900688"], "information_content": 100.0}
{"id": "HP:0002265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large fleshy ears", "equivalent_identifiers": ["HP:0002265", "UMLS:C3808403"], "information_content": 100.0}
{"id": "HP:0100333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral cleft lip", "equivalent_identifiers": ["HP:0100333", "UMLS:C0392006", "SNOMEDCT:304067009"], "information_content": 90.9}
{"id": "HP:0031107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased fibular diameter", "equivalent_identifiers": ["HP:0031107", "UMLS:C4476976"], "information_content": 100.0}
{"id": "HP:0003978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radius fracture", "equivalent_identifiers": ["HP:0003978", "EFO:0003957", "NCIT:C99039", "UMLS:C0034628", "MEDDRA:10037802", "SNOMEDCT:12676007", "MESH:D011885"], "information_content": 95.4}
{"id": "MONDO:0014981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 49", "equivalent_identifiers": ["MONDO:0014981", "DOID:0111979", "OMIM:617237", "UMLS:C4310656", "medgen:934623"], "information_content": 100.0}
{"id": "MONDO:0007287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 41", "equivalent_identifiers": ["MONDO:0007287", "DOID:0110241", "OMIM:116400", "UMLS:C3805412", "medgen:811742"], "information_content": 100.0}
{"id": "MONDO:0011085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4D", "equivalent_identifiers": ["MONDO:0011085", "DOID:0110186", "OMIM:601455", "orphanet:99950", "UMLS:C1832334", "MESH:C535716", "SNOMEDCT:715798007", "medgen:371304", "icd11.foundation:616686295"], "information_content": 100.0}
{"id": "HP:0006916", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material", "equivalent_identifiers": ["HP:0006916", "UMLS:C1832339", "UMLS:C4024964"], "information_content": 100.0}
{"id": "MONDO:0008649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "venular insufficiency, systemic", "equivalent_identifiers": ["MONDO:0008649", "OMIM:192700", "UMLS:C1860465", "MESH:C566004", "medgen:348623"], "information_content": 100.0}
{"id": "MONDO:0014177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 22, autosomal dominant", "equivalent_identifiers": ["MONDO:0014177", "OMIM:615420", "UMLS:C3809464", "medgen:815794"], "information_content": 100.0}
{"id": "MONDO:0009377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperammonemia due to N-acetylglutamate synthase deficiency", "equivalent_identifiers": ["MONDO:0009377", "DOID:0112258", "OMIM:237310", "orphanet:927", "UMLS:C0268543", "MESH:C536109", "MEDDRA:10071092", "NCIT:C129307", "SNOMEDCT:57119000", "medgen:120649"], "information_content": 100.0}
{"id": "HP:0001948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alkalosis", "equivalent_identifiers": ["HP:0001948", "NCIT:C37909", "UMLS:C0002063", "MEDDRA:10001680", "MEDDRA:10001687", "SNOMEDCT:21420006", "MESH:D000471"], "information_content": 87.2}
{"id": "HP:0500149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperglutamatemia", "equivalent_identifiers": ["HP:0500149", "UMLS:C4732903"], "information_content": 95.4}
{"id": "HP:6000161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic N-acetylglutamate synthase activity", "equivalent_identifiers": ["HP:6000161", "UMLS:C5937004"], "information_content": 100.0}
{"id": "MONDO:0011575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrooculonasal syndrome", "equivalent_identifiers": ["MONDO:0011575", "OMIM:605627", "orphanet:66625", "UMLS:C1854108", "MESH:C565313", "SNOMEDCT:720855003", "medgen:340138"], "information_content": 100.0}
{"id": "MONDO:0007819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "solitary median maxillary central incisor syndrome", "equivalent_identifiers": ["MONDO:0007819", "OMIM:147250", "UMLS:C1840235", "MESH:C537342", "MEDDRA:10089769", "SNOMEDCT:707609006", "medgen:326686", "icd11.foundation:1834868112", "HP:0006315"], "information_content": 100.0}
{"id": "MONDO:0014186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa with or without situs inversus", "equivalent_identifiers": ["MONDO:0014186", "DOID:0110419", "OMIM:615434", "UMLS:C4747737", "medgen:1658130"], "information_content": 100.0}
{"id": "MONDO:0010197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "whistling face syndrome, recessive form", "equivalent_identifiers": ["MONDO:0010197", "DOID:0111606", "OMIM:277720", "UMLS:C1848470", "MESH:C536699", "medgen:376364"], "information_content": 100.0}
{"id": "HP:0009465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviation of finger", "equivalent_identifiers": ["HP:0009465", "UMLS:C0231679", "SNOMEDCT:1293023007", "SNOMEDCT:276662009", "SNOMEDCT:367510009"], "information_content": 88.2}
{"id": "HP:0000346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Whistling appearance", "equivalent_identifiers": ["HP:0000346", "UMLS:C1848473"], "information_content": 100.0}
{"id": "MONDO:0020851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 30", "equivalent_identifiers": ["MONDO:0020851", "DOID:0111913", "OMIM:618110", "UMLS:C4748224", "medgen:1648394"], "information_content": 100.0}
{"id": "HP:0031038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spermatogenesis maturation arrest", "equivalent_identifiers": ["HP:0031038", "UMLS:C4477100"], "information_content": 90.9}
{"id": "MONDO:0014974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sudden cardiac failure, alcohol-induced", "equivalent_identifiers": ["MONDO:0014974", "OMIM:617223", "UMLS:C4310663", "medgen:934630"], "information_content": 100.0}
{"id": "MONDO:0009163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalomalacia, multilocular", "equivalent_identifiers": ["MONDO:0009163", "OMIM:225700", "UMLS:C1856991", "MESH:C565597", "medgen:341670"], "information_content": 100.0}
{"id": "MONDO:0010970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies", "equivalent_identifiers": ["MONDO:0010970", "DOID:0111697", "OMIM:600987", "UMLS:C1832950", "MESH:C563414", "medgen:318752"], "information_content": 100.0}
{"id": "HP:0012523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral aversion", "equivalent_identifiers": ["HP:0012523", "UMLS:C3665983", "MEDDRA:10074228"], "information_content": 100.0}
{"id": "MONDO:0007536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital lobar emphysema", "equivalent_identifiers": ["MONDO:0007536", "OMIM:130710", "orphanet:1928", "UMLS:C0265797", "MESH:C535735", "MEDDRA:10010456", "NCIT:C98895", "SNOMEDCT:47895001", "SNOMEDCT:66987001", "medgen:120557", "icd11.foundation:685349915", "HP:0033255"], "information_content": 100.0}
{"id": "HP:0011230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laterally extended eyebrow", "equivalent_identifiers": ["HP:0011230", "UMLS:C4023451"], "information_content": 100.0}
{"id": "HP:0009536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 2nd finger", "equivalent_identifiers": ["HP:0009536", "UMLS:C1862142"], "information_content": 90.9}
{"id": "MONDO:0012626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 4", "equivalent_identifiers": ["MONDO:0012626", "DOID:0070118", "OMIM:611134", "UMLS:C1970161", "UMLS:C1970162", "MESH:C567003", "MESH:C567004", "medgen:410003"], "information_content": 100.0}
{"id": "MONDO:0001147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningocele", "equivalent_identifiers": ["MONDO:0001147", "DOID:1088", "UMLS:C0009730", "UMLS:C0025299", "UMLS:C1261470", "MESH:D008588", "MEDDRA:10027266", "NCIT:C101209", "NCIT:C105595", "SNOMEDCT:171131006", "SNOMEDCT:172069000", "SNOMEDCT:65144005", "medgen:44356", "HP:0002435"], "information_content": 73.9}
{"id": "MONDO:0008205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent patella", "equivalent_identifiers": ["MONDO:0008205", "OMIM:168860", "orphanet:86789", "UMLS:C1868577", "MESH:C535568", "medgen:358246", "icd11.foundation:88577362", "HP:0006498"], "information_content": 90.9}
{"id": "MONDO:0013390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2Q", "equivalent_identifiers": ["MONDO:0013390", "DOID:0110285", "OMIM:613723", "orphanet:254361", "UMLS:C3150989", "SNOMEDCT:726615005", "medgen:462339"], "information_content": 100.0}
{"id": "MONDO:0014142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2T", "equivalent_identifiers": ["MONDO:0014142", "DOID:0110294", "OMIM:615352", "orphanet:363623", "UMLS:C4518000", "SNOMEDCT:732930007", "medgen:1377325"], "information_content": 100.0}
{"id": "HP:0030046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglycosylation of alpha-dystroglycan", "equivalent_identifiers": ["HP:0030046", "UMLS:C4015098"], "information_content": 100.0}
{"id": "MONDO:0009082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "high myopia-sensorineural deafness syndrome", "equivalent_identifiers": ["MONDO:0009082", "DOID:0111628", "OMIM:221200", "orphanet:363396", "UMLS:C3806275", "UMLS:C4304026", "SNOMEDCT:720506002", "medgen:812605"], "information_content": 100.0}
{"id": "MONDO:0030044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudo-TORCH syndrome 3", "equivalent_identifiers": ["MONDO:0030044", "OMIM:618886", "UMLS:C5394391", "medgen:1708513"], "information_content": 100.0}
{"id": "HP:0033106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating D-dimer concentration", "equivalent_identifiers": ["HP:0033106", "UMLS:C0742969", "SNOMEDCT:449830004"], "information_content": 100.0}
{"id": "HP:0001905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital thrombocytopenia", "equivalent_identifiers": ["HP:0001905", "UMLS:C0272278", "MEDDRA:10077833", "SNOMEDCT:737221003"], "information_content": 100.0}
{"id": "MONDO:0012437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 21 multiple types", "equivalent_identifiers": ["MONDO:0012437", "DOID:0110256", "OMIM:610202", "UMLS:C1857768", "MESH:C565703", "medgen:347538"], "information_content": 100.0}
{"id": "HP:0007780", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical pulverulent cataract", "equivalent_identifiers": ["HP:0007780", "UMLS:C4021568"], "information_content": 100.0}
{"id": "MONDO:0020374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerulean cataract", "equivalent_identifiers": ["MONDO:0020374", "orphanet:98989", "UMLS:C0344523", "MESH:C537955", "MEDDRA:10090531", "SNOMEDCT:204138006", "medgen:138007", "icd11.foundation:1188848969", "HP:0007976"], "information_content": 92.8}
{"id": "MONDO:0010013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Snail-like ilia", "equivalent_identifiers": ["MONDO:0010013", "DOID:0050775", "OMIM:269250", "orphanet:3144", "UMLS:C0432194", "UMLS:C1849290", "MESH:C536637", "SNOMEDCT:254049009", "medgen:98475", "icd11.foundation:584032448", "HP:0031026"], "information_content": 100.0}
{"id": "HP:0004233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Advanced ossification of carpal bones", "equivalent_identifiers": ["HP:0004233", "UMLS:C1849292", "UMLS:C4280536"], "information_content": 100.0}
{"id": "HP:0000907", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior rib cupping", "equivalent_identifiers": ["HP:0000907", "UMLS:C1846154"], "information_content": 100.0}
{"id": "HP:0008108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Advanced tarsal ossification", "equivalent_identifiers": ["HP:0008108", "UMLS:C1849293", "UMLS:C4280417"], "information_content": 100.0}
{"id": "MONDO:0010718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "absent radius-anogenital anomalies syndrome", "equivalent_identifiers": ["MONDO:0010718", "OMIM:312190", "orphanet:3016", "UMLS:C1839410", "MESH:C535281", "medgen:333312"], "information_content": 100.0}
{"id": "HP:0003244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Penile hypospadias", "equivalent_identifiers": ["HP:0003244", "UMLS:C1691215", "SNOMEDCT:204888000"], "information_content": 90.9}
{"id": "MONDO:0013865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency", "equivalent_identifiers": ["MONDO:0013865", "DOID:0111480", "OMIM:614702", "orphanet:314637", "UMLS:C4749921", "SNOMEDCT:771478008", "medgen:1664257"], "information_content": 100.0}
{"id": "MONDO:0029136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, limb-girdle, autosomal recessive 23", "equivalent_identifiers": ["MONDO:0029136", "DOID:0061132", "OMIM:618138", "orphanet:565837", "UMLS:C4748327", "medgen:1648462"], "information_content": 100.0}
{"id": "HP:6000659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated muscle fiber laminin alpha 5 expression", "equivalent_identifiers": ["HP:6000659", "UMLS:C5937404"], "information_content": 100.0}
{"id": "HP:0040078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axonal degeneration", "equivalent_identifiers": ["HP:0040078", "UMLS:C1837496"], "information_content": 100.0}
{"id": "HP:0008994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal muscle weakness in lower limbs", "equivalent_identifiers": ["HP:0008994", "UMLS:C1866010"], "information_content": 89.4}
{"id": "HP:0031237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Internally nucleated skeletal muscle fibers", "equivalent_identifiers": ["HP:0031237", "UMLS:C4531255"], "information_content": 100.0}
{"id": "MONDO:0014498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome 4", "equivalent_identifiers": ["MONDO:0014498", "DOID:0090065", "OMIM:616115", "orphanet:576349", "UMLS:C4015276", "SNOMEDCT:1264006004", "medgen:863713"], "information_content": 100.0}
{"id": "MONDO:0030986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blistering, acantholytic, of oral and laryngeal mucosa", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0030986", "OMIM:619226", "UMLS:C5543184", "medgen:1785588"], "information_content": 100.0}
{"id": "HP:0031446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erosion of oral mucosa", "equivalent_identifiers": ["HP:0031446", "UMLS:C0399461", "MEDDRA:10064594", "SNOMEDCT:235019006"], "information_content": 81.3}
{"id": "MONDO:0009288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease Ib", "equivalent_identifiers": ["MONDO:0009288", "DOID:0081330", "DOID:0081331", "OMIM:232220", "OMIM:232240", "orphanet:79259", "UMLS:C0268146", "UMLS:C0342749", "MESH:C562594", "MESH:C562805", "MEDDRA:10056897", "NCIT:C122661", "SNOMEDCT:237965005", "SNOMEDCT:30102006", "medgen:78644"], "information_content": 100.0}
{"id": "HP:0410175", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperketonemia", "equivalent_identifiers": ["HP:0410175"], "information_content": 79.3}
{"id": "HP:0012522", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spider hemangioma", "equivalent_identifiers": ["HP:0012522", "UMLS:C4022867"], "information_content": 100.0}
{"id": "MONDO:0002615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthomatosis", "equivalent_identifiers": ["MONDO:0002615", "DOID:3345", "UMLS:C0043325", "MESH:D014973", "MEDDRA:10048215", "SNOMEDCT:63103006", "medgen:21939", "HP:0000991"], "information_content": 84.8}
{"id": "MONDO:0005003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic pancreatitis", "equivalent_identifiers": ["MONDO:0005003", "EFO:0000342", "UMLS:C0149521", "MESH:D050500", "MEDDRA:10009093", "MEDDRA:10033649", "MEDDRA:10087944", "NCIT:C84637", "SNOMEDCT:235494005", "medgen:101753", "icd11.foundation:1758007371", "HP:0006280"], "information_content": 90.9}
{"id": "MONDO:0008090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cyclic hematopoiesis", "equivalent_identifiers": ["MONDO:0008090", "DOID:5339", "OMIM:162800", "orphanet:2686", "UMLS:C0221023", "MESH:C536227", "MEDDRA:10053176", "NCIT:C3820", "SNOMEDCT:191347008", "medgen:65121", "ICD10:D70.4", "ICD9:288.02", "HP:0040289"], "information_content": 95.4}
{"id": "MONDO:0005236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthoma", "equivalent_identifiers": ["MONDO:0005236", "EFO:0003075", "UMLS:C0155210", "UMLS:C0302314", "UMLS:C4280601", "UMLS:C4280602", "MEDDRA:10048211", "MEDDRA:10048212", "MEDDRA:10048214", "NCIT:C3651", "NCIT:C4071", "SNOMEDCT:238951005", "SNOMEDCT:6400008", "SNOMEDCT:75594004", "medgen:86216", "HP:0001114"], "information_content": 90.9}
{"id": "HP:0002723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of bactericidal oxidative respiratory burst in phagocytes", "equivalent_identifiers": ["HP:0002723", "UMLS:C1844385"], "information_content": 100.0}
{"id": "MONDO:0030991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bile acid conjugation defect 1", "equivalent_identifiers": ["MONDO:0030991", "OMIM:619232", "UMLS:C5543203", "medgen:1780260"], "information_content": 100.0}
{"id": "MONDO:0012174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral cone dystrophy", "equivalent_identifiers": ["MONDO:0012174", "OMIM:609021", "UMLS:C1836946", "MESH:C563813", "medgen:323031"], "information_content": 100.0}
{"id": "MONDO:0001451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral retinal degeneration", "equivalent_identifiers": ["MONDO:0001451", "DOID:12161", "UMLS:C1320640", "MEDDRA:10034616", "NCIT:C34919", "SNOMEDCT:405721006", "SNOMEDCT:61536007", "medgen:232938", "icd11.foundation:1518234440", "ICD10:H35.4", "ICD9:362.6", "HP:0007769"], "information_content": 87.2}
{"id": "HP:0007761", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pericentral scotoma", "equivalent_identifiers": ["HP:0007761", "UMLS:C1321308", "SNOMEDCT:404650002"], "information_content": 100.0}
{"id": "HP:0030528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paracentral scotoma", "equivalent_identifiers": ["HP:0030528", "UMLS:C0271197", "SNOMEDCT:64418005"], "information_content": 100.0}
{"id": "MONDO:0008127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmomandibulomelic dysplasia", "equivalent_identifiers": ["MONDO:0008127", "OMIM:164900", "orphanet:2741", "UMLS:C1833872", "MESH:C563501", "SNOMEDCT:715484003", "medgen:331604", "icd11.foundation:869046719"], "information_content": 100.0}
{"id": "HP:0006439", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radioulnar dislocation", "equivalent_identifiers": ["HP:0006439", "UMLS:C2673394"], "information_content": 92.8}
{"id": "HP:0012478", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporomandibular joint ankylosis", "equivalent_identifiers": ["HP:0012478", "UMLS:C0575010", "UMLS:C0685924", "UMLS:C2931375", "MEDDRA:10088892", "SNOMEDCT:298231004", "SNOMEDCT:50603008", "SNOMEDCT:91866004", "MESH:C536957"], "information_content": 100.0}
{"id": "HP:0006055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar deviated club hands", "equivalent_identifiers": ["HP:0006055", "UMLS:C1833881"], "information_content": 100.0}
{"id": "HP:0006441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lateral humeral condyle aplasia", "equivalent_identifiers": ["HP:0006441", "UMLS:C1833878", "SNOMEDCT:1145399007"], "information_content": 100.0}
{"id": "HP:0006169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased mobility 3rd-5th fingers", "equivalent_identifiers": ["HP:0006169", "UMLS:C1833882"], "information_content": 100.0}
{"id": "MONDO:0013119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 77", "equivalent_identifiers": ["MONDO:0013119", "DOID:0110525", "OMIM:613079", "UMLS:C2746083", "MESH:C567543", "medgen:412541"], "information_content": 100.0}
{"id": "MONDO:0030048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "harderoporphyria", "equivalent_identifiers": ["MONDO:0030048", "OMIM:618892", "orphanet:659672", "UMLS:C0342859", "MESH:C562816", "SNOMEDCT:238056003", "medgen:137981", "icd11.foundation:1664486132"], "information_content": 100.0}
{"id": "HP:0033627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urine harderoporphyrin level", "equivalent_identifiers": ["HP:0033627", "UMLS:C5539729"], "information_content": 100.0}
{"id": "HP:0012217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary porphobilinogen", "equivalent_identifiers": ["HP:0012217", "UMLS:C4023000"], "information_content": 100.0}
{"id": "HP:0034472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal harderoporphyrin", "equivalent_identifiers": ["HP:0034472", "UMLS:C5826418"], "information_content": 100.0}
{"id": "HP:0040318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Red urine", "equivalent_identifiers": ["HP:0040318", "UMLS:C0858862", "MEDDRA:10038197"], "information_content": 95.4}
{"id": "MONDO:0010365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, congenital, with fiber-type disproportion, X-linked", "equivalent_identifiers": ["MONDO:0010365", "DOID:0111226", "OMIM:300580", "UMLS:C2749128", "MESH:C567594", "medgen:440714"], "information_content": 100.0}
{"id": "HP:0004661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontalis muscle weakness", "equivalent_identifiers": ["HP:0004661", "UMLS:C1859438"], "information_content": 100.0}
{"id": "MONDO:0054723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 19", "equivalent_identifiers": ["MONDO:0054723", "DOID:0070170", "OMIM:617592", "UMLS:C4539818", "medgen:1614356"], "information_content": 100.0}
{"id": "MONDO:0014801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "even-plus syndrome", "equivalent_identifiers": ["MONDO:0014801", "OMIM:616854", "orphanet:496751", "UMLS:C4225180", "SNOMEDCT:1260203008", "medgen:904613"], "information_content": 100.0}
{"id": "HP:0008428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral clefting", "equivalent_identifiers": ["HP:0008428", "UMLS:C1855828"], "information_content": 87.2}
{"id": "MONDO:0030037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures", "equivalent_identifiers": ["MONDO:0030037", "OMIM:618879", "UMLS:C5394372", "medgen:1710849"], "information_content": 100.0}
{"id": "HP:0041048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased expression of GPI-anchored proteins on the cell surface", "equivalent_identifiers": ["HP:0041048", "UMLS:C5209293"], "information_content": 100.0}
{"id": "HP:0008593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent antitragus", "equivalent_identifiers": ["HP:0008593", "UMLS:C1968811"], "information_content": 100.0}
{"id": "MONDO:0010763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, Y-linked, 1", "inheritance": "Y-linked inheritance", "equivalent_identifiers": ["MONDO:0010763", "DOID:0070186", "OMIM:400042", "UMLS:C1839073", "UMLS:C1839074", "UMLS:C1839075", "UMLS:C4048572", "UMLS:C4551960", "MESH:C537587", "MESH:C564032", "MESH:C564033", "NCIT:C166105", "SNOMEDCT:713919009", "medgen:1634798", "HP:0034813"], "information_content": 100.0}
{"id": "MONDO:0011425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1H", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0011425", "DOID:0110429", "OMIM:604288", "UMLS:C1858591", "MESH:C536277", "medgen:348980"], "information_content": 100.0}
{"id": "MONDO:0007378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polymorphous corneal dystrophy 1", "equivalent_identifiers": ["MONDO:0007378", "DOID:0110855", "OMIM:122000", "UMLS:C0339284", "UMLS:C1852555", "MESH:C562745", "MEDDRA:10085885", "SNOMEDCT:29504002", "medgen:343836", "ICD10:H18.50", "HP:0007915"], "information_content": 100.0}
{"id": "HP:0011488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal corneal endothelium morphology", "equivalent_identifiers": ["HP:0011488", "UMLS:C4023332"], "information_content": 82.6}
{"id": "HP:0031159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thinning of Descemet membrane", "equivalent_identifiers": ["HP:0031159", "UMLS:C4477011"], "information_content": 100.0}
{"id": "HP:0011490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal Descemet membrane morphology", "equivalent_identifiers": ["HP:0011490", "UMLS:C4023330"], "information_content": 85.5}
{"id": "HP:0025358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uveal ectropion", "equivalent_identifiers": ["HP:0025358", "UMLS:C0423325", "MEDDRA:10079167", "SNOMEDCT:55828000"], "information_content": 100.0}
{"id": "MONDO:0021093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia 1", "equivalent_identifiers": ["MONDO:0021093", "DOID:0080803", "OMIM:218330", "UMLS:C0432235", "MESH:C562966", "medgen:96586"], "information_content": 100.0}
{"id": "HP:0012623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stage 1 chronic kidney disease", "equivalent_identifiers": ["HP:0012623", "NCIT:C80387", "UMLS:C2316401", "MEDDRA:10076408", "SNOMEDCT:431855005"], "information_content": 100.0}
{"id": "HP:0032612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triphalangeal hallux", "equivalent_identifiers": ["HP:0032612", "UMLS:C0432034", "SNOMEDCT:205354008"], "information_content": 100.0}
{"id": "HP:0009880", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad distal phalanges of all fingers", "equivalent_identifiers": ["HP:0009880", "UMLS:C4024174"], "information_content": 95.4}
{"id": "HP:0006563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malformation of the hepatic ductal plate", "equivalent_identifiers": ["HP:0006563", "UMLS:C1857519"], "information_content": 100.0}
{"id": "MONDO:0013128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial juvenile hyperuricemic nephropathy type 2", "equivalent_identifiers": ["MONDO:0013128", "DOID:0061119", "OMIM:613092", "orphanet:217330", "UMLS:C2751310", "UMLS:C4303080", "MESH:C567760", "SNOMEDCT:721840000", "medgen:414347"], "information_content": 100.0}
{"id": "MONDO:0010704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otopalatodigital syndrome type 1", "equivalent_identifiers": ["MONDO:0010704", "DOID:0111783", "OMIM:311300", "orphanet:90650", "UMLS:C0265251", "UMLS:C2748919", "MESH:C536065", "MESH:C567578", "MEDDRA:10084422", "NCIT:C118845", "SNOMEDCT:54036001", "medgen:78542", "icd11.foundation:1442049882"], "information_content": 100.0}
{"id": "HP:0001592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Selective tooth agenesis", "equivalent_identifiers": ["HP:0001592", "UMLS:C1970308", "UMLS:C4280251"], "information_content": 78.5}
{"id": "HP:0005090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lateral femoral bowing", "equivalent_identifiers": ["HP:0005090", "UMLS:C1866737"], "information_content": 100.0}
{"id": "HP:0002737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick skull base", "equivalent_identifiers": ["HP:0002737", "UMLS:C1839507"], "information_content": 100.0}
{"id": "HP:0009642", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009642", "UMLS:C1863402"], "information_content": 100.0}
{"id": "HP:0001782", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bulbous tips of toes", "equivalent_identifiers": ["HP:0001782", "UMLS:C4025747"], "information_content": 100.0}
{"id": "HP:0004232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accessory carpal bones", "equivalent_identifiers": ["HP:0004232", "UMLS:C0265609", "MEDDRA:10000362", "MEDDRA:10000363", "SNOMEDCT:20136007", "SNOMEDCT:9181003"], "information_content": 92.8}
{"id": "HP:0008089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the fifth metatarsal bone", "equivalent_identifiers": ["HP:0008089", "UMLS:C4024733"], "information_content": 89.4}
{"id": "HP:0008127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bipartite calcaneus", "equivalent_identifiers": ["HP:0008127", "UMLS:C1835574"], "information_content": 100.0}
{"id": "MONDO:0007469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "double nail for fifth toe", "equivalent_identifiers": ["MONDO:0007469", "OMIM:126500", "UMLS:C1852023", "MESH:C565090", "medgen:343705"], "information_content": 100.0}
{"id": "MONDO:0957544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auriculocondylar syndrome 2B", "equivalent_identifiers": ["MONDO:0957544", "OMIM:620458", "UMLS:C5830664", "medgen:1841300"], "information_content": 100.0}
{"id": "HP:0000040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long penis", "equivalent_identifiers": ["HP:0000040", "UMLS:C0269011", "MEDDRA:10034337", "SNOMEDCT:88673001"], "information_content": 100.0}
{"id": "HP:0011261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Darwin tubercle of helix", "equivalent_identifiers": ["HP:0011261", "UMLS:C4021179"], "information_content": 100.0}
{"id": "HP:0007628", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mandibular condyle hypoplasia", "equivalent_identifiers": ["HP:0007628", "UMLS:C0399572", "UMLS:C4280423", "UMLS:C4280424", "UMLS:C4280425", "UMLS:C4280426", "UMLS:C4280427", "UMLS:C4280428", "SNOMEDCT:235120003"], "information_content": 95.4}
{"id": "MONDO:0021454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limbal dermoid", "equivalent_identifiers": ["MONDO:0021454", "UMLS:C0496897", "UMLS:C1867616", "MEDDRA:10004263", "MEDDRA:10004325", "MEDDRA:10004326", "MEDDRA:10030056", "NCIT:C4780", "SNOMEDCT:5131000119107", "SNOMEDCT:92097004", "medgen:401267", "HP:0001140"], "information_content": 73.0}
{"id": "HP:0004451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postauricular skin tag", "equivalent_identifiers": ["HP:0004451", "UMLS:C4025323"], "information_content": 100.0}
{"id": "HP:0003319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the cervical spine", "equivalent_identifiers": ["HP:0003319", "UMLS:C1852464"], "information_content": 72.5}
{"id": "MONDO:0957203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked 111", "equivalent_identifiers": ["MONDO:0957203", "DOID:0060929", "OMIM:301107", "UMLS:C5829568", "medgen:1840204"], "information_content": 100.0}
{"id": "MONDO:0008355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyloric stenosis, infantile hypertrophic, 1", "equivalent_identifiers": ["MONDO:0008355", "OMIM:179010", "UMLS:C1867403", "medgen:357978"], "information_content": 100.0}
{"id": "HP:0005977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypochloremic metabolic alkalosis", "equivalent_identifiers": ["HP:0005977", "UMLS:C0740895"], "information_content": 95.4}
{"id": "MONDO:0007329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cirrhosis, familial", "equivalent_identifiers": ["MONDO:0007329", "OMIM:215600", "UMLS:C0267809", "UMLS:C0268074", "UMLS:C1859088", "UMLS:C1861556", "UMLS:C1876165", "UMLS:C1876166", "MESH:C562577", "MESH:C562580", "MESH:C565846", "MESH:C566123", "MESH:C566858", "MEDDRA:10063075", "NCIT:C84411", "SNOMEDCT:6183001", "SNOMEDCT:89580002", "medgen:350049"], "information_content": 85.5}
{"id": "HP:0004787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fulminant hepatitis", "equivalent_identifiers": ["HP:0004787", "UMLS:C0302809", "MEDDRA:10019772", "SNOMEDCT:427044009"], "information_content": 100.0}
{"id": "HP:0410069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of propylene glycol in blood", "equivalent_identifiers": ["HP:0410069", "UMLS:C4703635"], "information_content": 100.0}
{"id": "HP:0410067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of L-fucose in urine", "equivalent_identifiers": ["HP:0410067", "UMLS:C4703633"], "information_content": 100.0}
{"id": "MONDO:0010271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked myotubular myopathy-abnormal genitalia syndrome", "equivalent_identifiers": ["MONDO:0010271", "OMIM:300219", "orphanet:456328", "UMLS:C1846169", "MESH:C564561", "SNOMEDCT:1255278004", "medgen:335354"], "information_content": 100.0}
{"id": "MONDO:0013122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 3, primary congenital, D", "equivalent_identifiers": ["MONDO:0013122", "OMIM:613086", "UMLS:C2751316", "MESH:C567765", "medgen:416524"], "information_content": 100.0}
{"id": "MONDO:0013976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 9, hair/nail type", "equivalent_identifiers": ["MONDO:0013976", "DOID:0111656", "OMIM:614931", "UMLS:C3554127", "medgen:767041"], "information_content": 100.0}
{"id": "HP:0002298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent hair", "equivalent_identifiers": ["HP:0002298", "UMLS:C0574763", "SNOMEDCT:297991008"], "information_content": 81.7}
{"id": "HP:0032226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sebaceous gland morphology", "equivalent_identifiers": ["HP:0032226", "UMLS:C5139208"], "information_content": 87.2}
{"id": "HP:0040039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onycholysis of fingernails", "equivalent_identifiers": ["HP:0040039", "UMLS:C3553044"], "information_content": 95.4}
{"id": "HP:0500262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrichia", "equivalent_identifiers": ["HP:0500262", "UMLS:C0702167", "MEDDRA:10003669", "MEDDRA:10003670", "SNOMEDCT:23323004"], "information_content": 100.0}
{"id": "MONDO:0009790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opticocochleodentate degeneration", "equivalent_identifiers": ["MONDO:0009790", "OMIM:258700", "UMLS:C0520711", "MESH:C563002", "SNOMEDCT:77553008", "medgen:101046"], "information_content": 100.0}
{"id": "HP:0005102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cochlear degeneration", "equivalent_identifiers": ["HP:0005102", "UMLS:C1849095"], "information_content": 89.4}
{"id": "MONDO:0100226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Somnambulism", "equivalent_identifiers": ["MONDO:0100226", "OMIM:613938", "UMLS:C0037672", "UMLS:C3151363", "MESH:D013009", "MEDDRA:10041012", "MEDDRA:10041346", "MEDDRA:10041347", "NCIT:C95078", "SNOMEDCT:80495009", "medgen:462713", "HP:0025236"], "information_content": 100.0}
{"id": "HP:0030765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleep terror", "equivalent_identifiers": ["HP:0030765", "NCIT:C117287", "NCIT:C95077", "UMLS:C0037320", "MEDDRA:10029411", "MEDDRA:10041010", "SNOMEDCT:89675003", "MESH:D020184"], "information_content": 100.0}
{"id": "MONDO:0014796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive early-onset Parkinson disease 23", "equivalent_identifiers": ["MONDO:0014796", "DOID:0060896", "OMIM:616840", "UMLS:C4225186", "NCIT:C203536", "medgen:896607"], "information_content": 100.0}
{"id": "HP:0031825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Freezing of gait", "equivalent_identifiers": ["HP:0031825", "UMLS:C0860515", "MEDDRA:10091081", "SNOMEDCT:443544006"], "information_content": 100.0}
{"id": "MONDO:0009471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intrinsic factor and r binder, combined congenital deficiency of", "equivalent_identifiers": ["MONDO:0009471", "OMIM:243320", "UMLS:C1855721", "MESH:C565461", "medgen:340942"], "information_content": 100.0}
{"id": "HP:0005219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of intrinsic factor", "equivalent_identifiers": ["HP:0005219", "UMLS:C4021641"], "information_content": 100.0}
{"id": "MONDO:0014808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital secretory sodium diarrhea 8", "equivalent_identifiers": ["MONDO:0014808", "DOID:0060777", "OMIM:616868", "UMLS:C5441928", "medgen:1783137"], "information_content": 100.0}
{"id": "HP:0032024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ileal ulcer", "equivalent_identifiers": ["HP:0032024", "NCIT:C78357", "UMLS:C0520564", "MEDDRA:10021309", "MEDDRA:10045310", "MEDDRA:10045324", "SNOMEDCT:50565005"], "information_content": 100.0}
{"id": "HP:0032487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced fecal osmolality", "equivalent_identifiers": ["HP:0032487", "UMLS:C5139378"], "information_content": 100.0}
{"id": "HP:0032489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated fecal pH", "equivalent_identifiers": ["HP:0032489", "UMLS:C5139651"], "information_content": 100.0}
{"id": "HP:0010931", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood sodium concentration", "equivalent_identifiers": ["HP:0010931", "UMLS:C4023644"], "information_content": 87.2}
{"id": "HP:0034470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated stool chloride content", "equivalent_identifiers": ["HP:0034470", "UMLS:C5826416"], "information_content": 100.0}
{"id": "HP:0032484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated fecal sodium", "equivalent_identifiers": ["HP:0032484", "UMLS:C5139375"], "information_content": 100.0}
{"id": "MONDO:0000249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secretory diarrhea", "equivalent_identifiers": ["MONDO:0000249", "DOID:0050129", "UMLS:C0267557", "MEDDRA:10039894", "MEDDRA:10055960", "SNOMEDCT:15699003", "medgen:75635", "HP:0005208"], "information_content": 87.2}
{"id": "MONDO:0030077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral, cardiac, renal, and limb defects syndrome 3", "equivalent_identifiers": ["MONDO:0030077", "OMIM:618845", "UMLS:C5394250", "medgen:1709064"], "information_content": 100.0}
{"id": "MONDO:0000811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anomalous left coronary artery from the pulmonary artery", "equivalent_identifiers": ["MONDO:0000811", "DOID:0060562", "UMLS:C1735886", "UMLS:C3472166", "MESH:D063748", "MEDDRA:10066223", "MEDDRA:10084540", "SNOMEDCT:450301003", "medgen:760471", "HP:0011638"], "information_content": 100.0}
{"id": "HP:0005999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureteral atresia", "equivalent_identifiers": ["HP:0005999", "UMLS:C0266320", "SNOMEDCT:204974003", "SNOMEDCT:49534003"], "information_content": 100.0}
{"id": "MONDO:0011601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal intrahepatic cholestasis due to citrin deficiency", "equivalent_identifiers": ["MONDO:0011601", "DOID:0070341", "OMIM:605814", "orphanet:247598", "UMLS:C1853942", "MESH:C536398", "SNOMEDCT:717155003", "medgen:340091"], "information_content": 100.0}
{"id": "MONDO:0010118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited threoninemia", "equivalent_identifiers": ["MONDO:0010118", "OMIM:273770", "UMLS:C1848861", "medgen:336439", "HP:0003354"], "information_content": 95.4}
{"id": "MONDO:0009388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlysinemia", "equivalent_identifiers": ["MONDO:0009388", "DOID:9274", "OMIM:238700", "orphanet:2203", "UMLS:C0268553", "UMLS:C0543533", "UMLS:C1527317", "MESH:D020167", "MEDDRA:10081311", "MEDDRA:10081312", "NCIT:C123433", "SNOMEDCT:58558003", "medgen:82816", "ICD10:E72.3", "HP:0002161"], "information_content": 95.4}
{"id": "HP:0012202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum bile acid concentration", "equivalent_identifiers": ["HP:0012202", "UMLS:C4023004"], "information_content": 92.8}
{"id": "HP:0011966", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated plasma citrulline", "equivalent_identifiers": ["HP:0011966", "UMLS:C4023102"], "information_content": 100.0}
{"id": "HP:0500153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperargininemia", "equivalent_identifiers": ["HP:0500153", "UMLS:C5399765"], "information_content": 95.4}
{"id": "MONDO:0010747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dystonia-parkinsonism", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010747", "DOID:0090057", "OMIM:314250", "orphanet:53351", "UMLS:C1839130", "MESH:C564048", "NCIT:C126330", "SNOMEDCT:698279003", "medgen:326820"], "information_content": 100.0}
{"id": "MONDO:0019023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous mastocytosis", "equivalent_identifiers": ["MONDO:0019023", "DOID:3663", "OMIM:154800", "orphanet:66646", "EFO:1000886", "UMLS:C1136033", "UMLS:C4749142", "UMLS:C4749143", "MESH:D034701", "NCIT:C7137", "SNOMEDCT:397012002", "SNOMEDCT:703827008", "medgen:210143", "icd11.foundation:1300710062", "HP:0200151"], "information_content": 84.2}
{"id": "MONDO:0019576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telangiectasia macularis eruptiva perstans", "equivalent_identifiers": ["MONDO:0019576", "orphanet:90389", "UMLS:C0263402", "MESH:C000715747", "MEDDRA:10043192", "SNOMEDCT:8214000", "medgen:78094", "icd11.foundation:444226072", "HP:0007583"], "information_content": 100.0}
{"id": "MONDO:0007404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cri-du-chat syndrome", "equivalent_identifiers": ["MONDO:0007404", "DOID:12580", "OMIM:123450", "orphanet:281", "UMLS:C0010314", "MESH:D003410", "MEDDRA:10011385", "NCIT:C34518", "SNOMEDCT:70173007", "medgen:41345", "icd11.foundation:620584190", "ICD10:Q93.4", "ICD9:758.31"], "information_content": 100.0}
{"id": "HP:0009102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior open-bite malocclusion", "equivalent_identifiers": ["HP:0009102", "UMLS:C0266060", "UMLS:C4024598", "SNOMEDCT:67289000"], "information_content": 100.0}
{"id": "HP:0002795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal respiratory system physiology", "equivalent_identifiers": ["HP:0002795", "UMLS:C1260922", "UMLS:C1659989", "UMLS:C4025677", "UMLS:C5676592", "MEDDRA:10006334", "MEDDRA:10038647", "MEDDRA:10038659", "MEDDRA:10038694", "MEDDRA:10051382", "MEDDRA:10078736", "SNOMEDCT:386813002"], "information_content": 58.6}
{"id": "HP:0100024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conspicuously happy disposition", "equivalent_identifiers": ["HP:0100024", "UMLS:C4021029"], "information_content": 100.0}
{"id": "HP:0100025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overfriendliness", "equivalent_identifiers": ["HP:0100025", "UMLS:C4022386"], "information_content": 100.0}
{"id": "HP:0200046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cat cry", "equivalent_identifiers": ["HP:0200046", "UMLS:C0234861", "SNOMEDCT:42712003"], "information_content": 100.0}
{"id": "HP:0001042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High axial triradius", "equivalent_identifiers": ["HP:0001042", "UMLS:C4025806"], "information_content": 100.0}
{"id": "MONDO:0043303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperacusis", "equivalent_identifiers": ["MONDO:0043303", "UMLS:C0034880", "MESH:D012001", "MEDDRA:10003786", "MEDDRA:10019240", "MEDDRA:10020559", "MEDDRA:10033520", "MEDDRA:10052526", "NCIT:C116366", "SNOMEDCT:194399009", "SNOMEDCT:25289003", "medgen:20497", "icd11.foundation:652034206", "HP:0010780"], "information_content": 95.4}
{"id": "HP:0005437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent infections in infancy and early childhood", "equivalent_identifiers": ["HP:0005437", "UMLS:C1844909"], "information_content": 100.0}
{"id": "MONDO:0007343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated congenital digital clubbing", "equivalent_identifiers": ["MONDO:0007343", "OMIM:119900", "orphanet:217059", "UMLS:C0345408", "MEDDRA:10090111", "SNOMEDCT:239055005", "medgen:576901", "icd11.foundation:130631845"], "information_content": 100.0}
{"id": "MONDO:0957564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital smooth muscle hamartoma, with or without hemihypertrophy", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0957564", "OMIM:620470", "UMLS:C5882676", "medgen:1847218"], "information_content": 100.0}
{"id": "HP:0001528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemihypertrophy", "equivalent_identifiers": ["HP:0001528", "NCIT:C88541", "UMLS:C0332890", "UMLS:C1834167", "MEDDRA:10019463", "SNOMEDCT:205838004", "SNOMEDCT:56007004"], "information_content": 92.8}
{"id": "MONDO:0012742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 3", "equivalent_identifiers": ["MONDO:0012742", "DOID:0110220", "OMIM:611875", "UMLS:C2678478", "MESH:C567509", "medgen:395633"], "information_content": 100.0}
{"id": "HP:0012272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "J wave", "equivalent_identifiers": ["HP:0012272", "UMLS:C4018858"], "information_content": 100.0}
{"id": "MONDO:0957217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical dysplasia, complex, with other brain malformations 12", "equivalent_identifiers": ["MONDO:0957217", "OMIM:620316", "UMLS:C5830407", "medgen:1841043"], "information_content": 100.0}
{"id": "MONDO:0030017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 43", "equivalent_identifiers": ["MONDO:0030017", "DOID:0112116", "OMIM:618851", "UMLS:C5394284", "medgen:1718250"], "information_content": 100.0}
{"id": "MONDO:0007673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glucoglycinuria", "equivalent_identifiers": ["MONDO:0007673", "OMIM:138070", "UMLS:C0268536", "MESH:C562670", "SNOMEDCT:9111008", "medgen:78686", "icd11.foundation:2034546543"], "information_content": 100.0}
{"id": "MONDO:0008773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis", "equivalent_identifiers": ["MONDO:0008773", "OMIM:204730", "UMLS:C1859818", "MESH:C565960", "medgen:347955"], "information_content": 100.0}
{"id": "MONDO:0006022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acidosis", "equivalent_identifiers": ["MONDO:0006022", "EFO:1000014", "UMLS:C0001122", "MESH:D000138", "MEDDRA:10000486", "MEDDRA:10000493", "NCIT:C83504", "SNOMEDCT:51387008", "medgen:1296", "HP:0001941"], "information_content": 74.5}
{"id": "MONDO:0008319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "protoporphyria, erythropoietic, 1", "equivalent_identifiers": ["MONDO:0008319", "OMIM:177000", "UMLS:C0349426", "UMLS:C4692546", "NCIT:C84698", "SNOMEDCT:276265003", "medgen:1643471"], "information_content": 100.0}
{"id": "HP:6000697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low tissue ferrochelatase activity", "equivalent_identifiers": ["HP:6000697", "UMLS:C5937433"], "information_content": 100.0}
{"id": "MONDO:0009742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroectodermal melanolysosomal disease", "equivalent_identifiers": ["MONDO:0009742", "OMIM:256710", "orphanet:33445", "UMLS:C1860157", "MESH:C536203", "SNOMEDCT:724091002", "medgen:348553", "icd11.foundation:771734461"], "information_content": 100.0}
{"id": "MONDO:0008875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome", "equivalent_identifiers": ["MONDO:0008875", "OMIM:210745", "orphanet:2057", "UMLS:C1859432", "UMLS:C4303550", "MESH:C536235", "SNOMEDCT:717914000", "medgen:347880"], "information_content": 100.0}
{"id": "HP:0007715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weak extraocular muscles", "equivalent_identifiers": ["HP:0007715", "UMLS:C1859436"], "information_content": 100.0}
{"id": "MONDO:0100058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypervalinemia and hyperleucine-isoleucinemia", "equivalent_identifiers": ["MONDO:0100058", "DOID:0060950", "OMIM:618850", "UMLS:C5394277", "medgen:1719306"], "information_content": 100.0}
{"id": "HP:0010913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperisoleucinemia", "equivalent_identifiers": ["HP:0010913", "UMLS:C4023657"], "information_content": 95.4}
{"id": "HP:0010911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperleucinemia", "equivalent_identifiers": ["HP:0010911", "UMLS:C0268576", "SNOMEDCT:24013007"], "information_content": 92.8}
{"id": "MONDO:0010174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Valinemia", "equivalent_identifiers": ["MONDO:0010174", "OMIM:277100", "UMLS:C0268573", "MESH:C536524", "SNOMEDCT:47719001", "medgen:120652", "HP:0010910"], "information_content": 92.8}
{"id": "MONDO:0010648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "major affective disorder 2", "equivalent_identifiers": ["MONDO:0010648", "OMIM:309200", "UMLS:C1839839", "MESH:C564108", "medgen:326975"], "information_content": 100.0}
{"id": "MONDO:0032871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 19, transient infantile", "equivalent_identifiers": ["MONDO:0032871", "DOID:0070400", "OMIM:618688", "UMLS:C5231463", "medgen:1684698"], "information_content": 100.0}
{"id": "MONDO:0957218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities", "equivalent_identifiers": ["MONDO:0957218", "OMIM:620317", "UMLS:C5830413", "medgen:1841049"], "information_content": 100.0}
{"id": "MONDO:0030462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 40", "equivalent_identifiers": ["MONDO:0030462", "OMIM:619582", "UMLS:C5562007", "medgen:1794217"], "information_content": 100.0}
{"id": "MONDO:0957208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary hormone deficiency, combined or isolated, 8", "equivalent_identifiers": ["MONDO:0957208", "DOID:0061018", "OMIM:620303", "UMLS:C5830375", "medgen:1841011"], "information_content": 100.0}
{"id": "HP:0010626", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior pituitary agenesis", "equivalent_identifiers": ["HP:0010626", "UMLS:C4021249"], "information_content": 100.0}
{"id": "HP:0034976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent pituitary stalk", "equivalent_identifiers": ["HP:0034976", "UMLS:C5563355"], "information_content": 100.0}
{"id": "HP:0034978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interrupted pituitary stalk", "equivalent_identifiers": ["HP:0034978", "UMLS:C5826809"], "information_content": 100.0}
{"id": "MONDO:0010579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked corneal dermoid", "equivalent_identifiers": ["MONDO:0010579", "OMIM:304730", "orphanet:1661", "UMLS:C1844671", "MESH:C535376", "SNOMEDCT:715426004", "medgen:375481", "icd11.foundation:118076382"], "information_content": 100.0}
{"id": "MONDO:0009414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disorder due to hepatic glycogen synthase deficiency", "equivalent_identifiers": ["MONDO:0009414", "OMIM:240600", "orphanet:2089", "UMLS:C0342748", "UMLS:C1855861", "MESH:C565485", "SNOMEDCT:237964009", "medgen:343430"], "information_content": 100.0}
{"id": "HP:0011998", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postprandial hyperglycemia", "equivalent_identifiers": ["HP:0011998", "UMLS:C1855520", "MEDDRA:10075823", "MEDDRA:10075824"], "information_content": 100.0}
{"id": "MONDO:0009021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toriello-Carey syndrome", "equivalent_identifiers": ["MONDO:0009021", "OMIM:217980", "orphanet:3338", "UMLS:C0796184", "MESH:C563127", "SNOMEDCT:722477003", "medgen:163225", "icd11.foundation:147297969"], "information_content": 100.0}
{"id": "HP:0008749", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngeal hypoplasia", "equivalent_identifiers": ["HP:0008749", "UMLS:C0431527", "SNOMEDCT:253736003"], "information_content": 100.0}
{"id": "MONDO:0002568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheal stenosis", "equivalent_identifiers": ["MONDO:0002568", "DOID:3227", "UMLS:C0040583", "MESH:D014135", "MEDDRA:10050816", "NCIT:C78646", "SNOMEDCT:11296007", "medgen:21227", "HP:0002777"], "information_content": 92.8}
{"id": "HP:0001600", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the larynx", "equivalent_identifiers": ["HP:0001600", "UMLS:C4021777"], "information_content": 71.1}
{"id": "MONDO:0958196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, early-onset, 3, with or without developmental delay", "equivalent_identifiers": ["MONDO:0958196", "DOID:0070472", "OMIM:620465", "UMLS:C5882674", "medgen:1847911"], "information_content": 100.0}
{"id": "MONDO:0009483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kapur-Toriello syndrome", "equivalent_identifiers": ["MONDO:0009483", "OMIM:244300", "orphanet:2328", "UMLS:C0796005", "MESH:C537008", "SNOMEDCT:722031003", "medgen:208654"], "information_content": 100.0}
{"id": "HP:0000079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the urinary system", "equivalent_identifiers": ["HP:0000079", "UMLS:C4021821"], "information_content": 49.7}
{"id": "HP:0007598", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral single transverse palmar creases", "equivalent_identifiers": ["HP:0007598", "UMLS:C1862095"], "information_content": 100.0}
{"id": "MONDO:0007344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cluster headache, familial", "equivalent_identifiers": ["MONDO:0007344", "OMIM:119915", "UMLS:C1861513", "MESH:C566117", "medgen:350040"], "information_content": 100.0}
{"id": "MONDO:0043537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cluster headache syndrome", "equivalent_identifiers": ["MONDO:0043537", "UMLS:C0009088", "MESH:D003027", "MEDDRA:10009698", "MEDDRA:10019217", "MEDDRA:10019229", "MEDDRA:10019232", "MEDDRA:10020397", "MEDDRA:10027612", "MEDDRA:10059133", "MEDDRA:10086874", "NCIT:C117077", "SNOMEDCT:193031009", "SNOMEDCT:193947008", "SNOMEDCT:230473009", "medgen:3503", "ICD10:G44.0", "HP:0012199"], "information_content": 95.4}
{"id": "MONDO:0008735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenocortical unresponsiveness to ACTH with postreceptor defect", "equivalent_identifiers": ["MONDO:0008735", "OMIM:202355", "UMLS:C1859971", "MESH:C565971", "medgen:348507"], "information_content": 100.0}
{"id": "MONDO:0008581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malposition of teeth with or without hypodontia/oligodontia", "equivalent_identifiers": ["MONDO:0008581", "OMIM:189490", "UMLS:C2752157", "medgen:442888"], "information_content": 100.0}
{"id": "MONDO:0013123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 6", "equivalent_identifiers": ["MONDO:0013123", "DOID:0110111", "OMIM:613087", "UMLS:C2751315", "MESH:C567764", "medgen:414348"], "information_content": 100.0}
{"id": "MONDO:0010270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 7", "equivalent_identifiers": ["MONDO:0010270", "DOID:0060808", "OMIM:300218", "orphanet:85274", "UMLS:C1846170", "MESH:C537449", "SNOMEDCT:719160009", "medgen:337403"], "information_content": 100.0}
{"id": "MONDO:0957202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, X-linked, 7", "equivalent_identifiers": ["MONDO:0957202", "DOID:0070598", "OMIM:301106", "UMLS:C5829567", "medgen:1840203"], "information_content": 100.0}
{"id": "HP:0034795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excess residual spermatozoal cytoplasm", "equivalent_identifiers": ["HP:0034795", "UMLS:C5826667"], "information_content": 100.0}
{"id": "MONDO:0009551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "magnesium, elevated red cell", "equivalent_identifiers": ["MONDO:0009551", "OMIM:248260", "UMLS:C1855464", "medgen:343360"], "information_content": 100.0}
{"id": "MONDO:0010764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, Y-linked 1", "equivalent_identifiers": ["MONDO:0010764", "DOID:0111759", "OMIM:400043", "UMLS:C3888076", "medgen:854748"], "information_content": 100.0}
{"id": "MONDO:0008305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Currarino triad", "equivalent_identifiers": ["MONDO:0008305", "DOID:0111546", "OMIM:176450", "orphanet:1552", "UMLS:C1531773", "UMLS:C1867774", "UMLS:C1867775", "MESH:C536221", "MESH:C566762", "MEDDRA:10079857", "SNOMEDCT:413936007", "medgen:323460", "icd11.foundation:1532133816"], "information_content": 100.0}
{"id": "HP:0001153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Septate vagina", "equivalent_identifiers": ["HP:0001153", "UMLS:C0266411", "SNOMEDCT:47054003"], "information_content": 88.2}
{"id": "MONDO:0000754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal fistula", "equivalent_identifiers": ["MONDO:0000754", "DOID:0060328", "orphanet:228113", "UMLS:C0149889", "UMLS:C0205929", "MESH:D012003", "MEDDRA:10002156", "MEDDRA:10002645", "MEDDRA:10016718", "MEDDRA:10016721", "NCIT:C60785", "SNOMEDCT:72779005", "SNOMEDCT:786878009", "medgen:61482", "icd11.foundation:206903882", "ICD10:K60.3", "HP:0010447"], "information_content": 95.4}
{"id": "HP:0004796", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal obstruction", "equivalent_identifiers": ["HP:0004796", "UMLS:C0236124", "MEDDRA:10017996", "MEDDRA:10018244", "MEDDRA:10061974", "SNOMEDCT:126765001"], "information_content": 83.6}
{"id": "HP:0007293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior sacral meningocele", "equivalent_identifiers": ["HP:0007293", "UMLS:C1867776"], "information_content": 100.0}
{"id": "HP:0009791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid sacrum", "equivalent_identifiers": ["HP:0009791", "UMLS:C4024204"], "information_content": 100.0}
{"id": "HP:0009790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemisacrum", "equivalent_identifiers": ["HP:0009790", "UMLS:C2677632"], "information_content": 100.0}
{"id": "HP:0009793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Presacral teratoma", "equivalent_identifiers": ["HP:0009793", "UMLS:C1867782", "UMLS:C4551654"], "information_content": 100.0}
{"id": "MONDO:0007044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrodysostosis 1 with or without hormone resistance", "equivalent_identifiers": ["MONDO:0007044", "OMIM:101800", "UMLS:C3276228", "UMLS:C4522319", "NCIT:C136464", "medgen:477858"], "information_content": 100.0}
{"id": "HP:0033579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased growth hormone responses to growth hormone-releasing hormone challenge", "equivalent_identifiers": ["HP:0033579", "UMLS:C5539698"], "information_content": 100.0}
{"id": "HP:0003528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating calcitonin concentration", "equivalent_identifiers": ["HP:0003528", "UMLS:C1868394"], "information_content": 100.0}
{"id": "MONDO:0005965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal stenosis", "equivalent_identifiers": ["MONDO:0005965", "DOID:6725", "EFO:0007490", "UMLS:C0037944", "UMLS:C0158280", "UMLS:C1861329", "MESH:D013130", "MEDDRA:10008313", "MEDDRA:10041593", "MEDDRA:10041594", "MEDDRA:10041596", "MEDDRA:10082214", "MEDDRA:10082216", "NCIT:C177444", "SNOMEDCT:76107001", "SNOMEDCT:83561009", "medgen:396107", "icd11.foundation:1847895828", "ICD10:M48.0", "ICD10:M48.02", "ICD10:M48.061", "ICD9:723.0", "ICD9:724.00", "HP:0003416"], "information_content": 90.9}
{"id": "HP:0005756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal epiphyseal stippling", "equivalent_identifiers": ["HP:0005756", "UMLS:C4021623"], "information_content": 100.0}
{"id": "MONDO:0030036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome", "inheritance": "Autosomal dominant germline de novo mutation", "equivalent_identifiers": ["MONDO:0030036", "OMIM:618878", "UMLS:C5394371", "medgen:1719764"], "information_content": 100.0}
{"id": "MONDO:0054724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 20", "equivalent_identifiers": ["MONDO:0054724", "DOID:0070166", "OMIM:617593", "UMLS:C4539824", "medgen:1621256"], "information_content": 100.0}
{"id": "MONDO:0012382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinemic hypoglycemia, familial, 4", "equivalent_identifiers": ["MONDO:0012382", "DOID:0070215", "OMIM:609975", "orphanet:71212", "UMLS:C1864948", "UMLS:C4303473", "MESH:C566493", "SNOMEDCT:721236002", "medgen:400646"], "information_content": 100.0}
{"id": "MONDO:0005803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinemic hypoglycemia", "equivalent_identifiers": ["MONDO:0005803", "DOID:13317", "OMIM.PS:256450", "orphanet:443095", "EFO:0007318", "UMLS:C1864903", "MEDDRA:10077216", "MEDDRA:10077227", "SNOMEDCT:42681006", "medgen:351247", "ICD10:E16.9", "HP:0000825"], "information_content": 78.3}
{"id": "HP:0002173", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglycemic seizures", "equivalent_identifiers": ["HP:0002173", "UMLS:C0877056", "MEDDRA:10048803", "MEDDRA:10060492"], "information_content": 100.0}
{"id": "HP:0001325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglycemic coma", "equivalent_identifiers": ["HP:0001325", "NCIT:C181765", "UMLS:C0020617", "MEDDRA:10010078", "MEDDRA:10010079", "MEDDRA:10021000", "MEDDRA:10021008", "SNOMEDCT:267384006"], "information_content": 95.4}
{"id": "MONDO:0800455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birt-Hogg-Dube syndrome 2", "equivalent_identifiers": ["MONDO:0800455", "OMIM:620459", "UMLS:C5830676", "medgen:1841312"], "information_content": 100.0}
{"id": "MONDO:0005005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clear cell renal carcinoma", "equivalent_identifiers": ["MONDO:0005005", "DOID:4467", "orphanet:319276", "EFO:0000349", "UMLS:C0279702", "MEDDRA:10009251", "MEDDRA:10020681", "MEDDRA:10038416", "MEDDRA:10073251", "NCIT:C4033", "SNOMEDCT:1187306007", "SNOMEDCT:188251003", "SNOMEDCT:254915003", "medgen:76018", "HP:0006770"], "information_content": 78.3}
{"id": "HP:0032225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perifollicular fibroma", "equivalent_identifiers": ["HP:0032225"], "information_content": 100.0}
{"id": "MONDO:0008240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "6-phosphogluconolactonase deficiency", "equivalent_identifiers": ["MONDO:0008240", "OMIM:172150", "UMLS:C1868355", "MESH:C566803", "medgen:358188"], "information_content": 100.0}
{"id": "MONDO:0013971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", "equivalent_identifiers": ["MONDO:0013971", "DOID:0111493", "OMIM:614924", "orphanet:314051", "UMLS:C4706421", "SNOMEDCT:763366000", "medgen:1645614"], "information_content": 100.0}
{"id": "MONDO:0013129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achromatopsia 5", "equivalent_identifiers": ["MONDO:0013129", "OMIM:613093", "UMLS:C2751308", "MESH:C567758", "NCIT:C164226", "medgen:416518"], "information_content": 95.4}
{"id": "HP:0030465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undetectable light-adapted electroretinogram", "equivalent_identifiers": ["HP:0030465", "UMLS:C4072955"], "information_content": 100.0}
{"id": "MONDO:0013118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nijmegen breakage syndrome-like disorder", "equivalent_identifiers": ["MONDO:0013118", "OMIM:613078", "orphanet:240760", "UMLS:C2751318", "MESH:C567767", "NCIT:C153178", "SNOMEDCT:766753005", "medgen:442700", "icd11.foundation:1014526672"], "information_content": 100.0}
{"id": "HP:0010997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chromosomal breakage induced by ionizing radiation", "equivalent_identifiers": ["HP:0010997", "UMLS:C4021206"], "information_content": 100.0}
{"id": "MONDO:0014493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency", "equivalent_identifiers": ["MONDO:0014493", "OMIM:616100", "orphanet:436159", "UMLS:C4015214", "MEDDRA:10081533", "NCIT:C126341", "SNOMEDCT:1197361002", "medgen:863651"], "information_content": 100.0}
{"id": "MONDO:0006665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic atrophic gastritis", "equivalent_identifiers": ["MONDO:0006665", "DOID:8929", "EFO:1000826", "UMLS:C0017154", "MESH:D005757", "MEDDRA:10003685", "MEDDRA:10017860", "NCIT:C7405", "SNOMEDCT:84568007", "medgen:42157", "ICD10:K29.4", "ICD9:535.1", "HP:0002582"], "information_content": 95.4}
{"id": "HP:0032216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lymphocytic infiltration of the colorectal mucosa", "equivalent_identifiers": ["HP:0032216", "UMLS:C5139201"], "information_content": 100.0}
{"id": "MONDO:0005271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Allergy", "equivalent_identifiers": ["MONDO:0005271", "DOID:1205", "UMLS:C0020517", "UMLS:C1527304", "UMLS:C3539909", "MESH:D006967", "MEDDRA:10001718", "MEDDRA:10001719", "MEDDRA:10001738", "MEDDRA:10001741", "MEDDRA:10020751", "MEDDRA:10020755", "MEDDRA:10020756", "MEDDRA:10020757", "MEDDRA:10020759", "MEDDRA:10037932", "MEDDRA:10037948", "NCIT:C114476", "SNOMEDCT:419076005", "SNOMEDCT:421961002", "SNOMEDCT:609328004", "medgen:9370", "ICD10:T78.40", "HP:0012393"], "information_content": 73.1}
{"id": "MONDO:0012444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Karak Syndrome", "equivalent_identifiers": ["MONDO:0012444", "DOID:0110736", "OMIM:610217", "UMLS:C1857747", "UMLS:C2750220", "MESH:C548029", "MESH:C565699", "medgen:346658"], "information_content": 100.0}
{"id": "MONDO:0010366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FG syndrome 5", "equivalent_identifiers": ["MONDO:0010366", "OMIM:300581", "UMLS:C1845119", "MESH:C564480", "medgen:336854"], "information_content": 100.0}
{"id": "MONDO:0030489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 2A, generalized severe", "equivalent_identifiers": ["MONDO:0030489", "OMIM:619555", "UMLS:C4016235"], "information_content": 100.0}
{"id": "HP:0034067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tonofilament clumping", "equivalent_identifiers": ["HP:0034067", "UMLS:C5676664"], "information_content": 100.0}
{"id": "HP:0007446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmoplantar blistering", "equivalent_identifiers": ["HP:0007446", "UMLS:C4024876"], "information_content": 100.0}
{"id": "MONDO:0027676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAKUT2", "equivalent_identifiers": ["MONDO:0027676", "DOID:0080207", "OMIM:143400", "UMLS:C4048262", "UMLS:C5574705", "medgen:1804316"], "information_content": 100.0}
{"id": "HP:0030157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flank pain", "equivalent_identifiers": ["HP:0030157", "NCIT:C34615", "UMLS:C0016199", "UMLS:C0558489", "MEDDRA:10016750", "MEDDRA:10023432", "MEDDRA:10033399", "MEDDRA:10033457", "MEDDRA:10038490", "SNOMEDCT:247355005", "SNOMEDCT:274279008", "MESH:D021501"], "information_content": 67.2}
{"id": "HP:0008676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital megaureter", "equivalent_identifiers": ["HP:0008676", "UMLS:C0266324", "MEDDRA:10010540", "SNOMEDCT:718485003"], "information_content": 100.0}
{"id": "MONDO:0010044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 15", "equivalent_identifiers": ["MONDO:0010044", "DOID:0110768", "OMIM:270700", "orphanet:100996", "UMLS:C1849128", "MESH:C536642", "SNOMEDCT:709417000", "SNOMEDCT:764686003", "medgen:341387"], "information_content": 100.0}
{"id": "MONDO:0013550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal myopathy with posterior leg and anterior hand involvement", "equivalent_identifiers": ["MONDO:0013550", "DOID:0111190", "OMIM:614065", "orphanet:63273", "UMLS:C3279722", "UMLS:C4518807", "SNOMEDCT:733489002", "medgen:481352"], "information_content": 100.0}
{"id": "HP:0001430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal calf musculature morphology", "equivalent_identifiers": ["HP:0001430", "UMLS:C4021779"], "information_content": 79.0}
{"id": "HP:0007149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal upper limb amyotrophy", "equivalent_identifiers": ["HP:0007149", "UMLS:C4021581"], "information_content": 90.9}
{"id": "HP:0003427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thenar muscle weakness", "equivalent_identifiers": ["HP:0003427", "UMLS:C1832276"], "information_content": 100.0}
{"id": "MONDO:0014728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 27", "equivalent_identifiers": ["MONDO:0014728", "DOID:0111489", "OMIM:616672", "orphanet:477774", "EFO:0009037", "UMLS:C5567608", "NCIT:C185238", "SNOMEDCT:1172844009", "medgen:1799031"], "information_content": 100.0}
{"id": "MONDO:0030987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral, cardiac, tracheoesophageal, renal, and limb defects", "equivalent_identifiers": ["MONDO:0030987", "OMIM:619227", "UMLS:C5543189", "medgen:1788069"], "information_content": 100.0}
{"id": "HP:0002949", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fused cervical vertebrae", "equivalent_identifiers": ["HP:0002949", "UMLS:C3887527"], "information_content": 85.5}
{"id": "MONDO:0010124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thumb, distal hyperextensibility of", "equivalent_identifiers": ["MONDO:0010124", "OMIM:274200", "UMLS:C1848817", "medgen:338552"], "information_content": 100.0}
{"id": "HP:0005722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperextensible thumb", "equivalent_identifiers": ["HP:0005722", "UMLS:C4025148"], "information_content": 100.0}
{"id": "MONDO:0010930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anophthalmia plus syndrome", "equivalent_identifiers": ["MONDO:0010930", "OMIM:600776", "orphanet:1104", "UMLS:C1833339", "MESH:C537767", "SNOMEDCT:720496006", "medgen:322166"], "information_content": 100.0}
{"id": "HP:0100337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral cleft palate", "equivalent_identifiers": ["HP:0100337", "UMLS:C3553084"], "information_content": 100.0}
{"id": "MONDO:0018075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neural tube defect", "equivalent_identifiers": ["MONDO:0018075", "DOID:0080074", "orphanet:3388", "UMLS:C0027794", "MESH:D009436", "MEDDRA:10052046", "NCIT:C84923", "SNOMEDCT:253098009", "medgen:18009", "HP:0045005"], "information_content": 75.3}
{"id": "MONDO:0015831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "unilateral aplasia of the mullerian ducts", "equivalent_identifiers": ["MONDO:0015831", "orphanet:180071", "UMLS:C0266389", "MEDDRA:10080293", "SNOMEDCT:1372004", "medgen:78600", "HP:0031909"], "information_content": 92.8}
{"id": "MONDO:0009398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia with intellectual disability syndrome 1", "equivalent_identifiers": ["MONDO:0009398", "DOID:0070433", "OMIM:239300", "UMLS:C4551502", "medgen:1647044"], "information_content": 100.0}
{"id": "HP:0002034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal rectum morphology", "equivalent_identifiers": ["HP:0002034", "UMLS:C0266210", "UMLS:C5399764", "SNOMEDCT:86993003"], "information_content": 77.3}
{"id": "MONDO:0014973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sudden cardiac failure, infantile", "equivalent_identifiers": ["MONDO:0014973", "OMIM:617222", "UMLS:C4310664", "medgen:934631"], "information_content": 100.0}
{"id": "MONDO:0004496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myocarditis", "equivalent_identifiers": ["MONDO:0004496", "DOID:820", "EFO:0009609", "UMLS:C0027059", "MESH:D009205", "MEDDRA:10028606", "MEDDRA:10028613", "MEDDRA:10028619", "NCIT:C34831", "SNOMEDCT:50920009", "medgen:44553", "icd11.foundation:1018829714", "ICD10:I51.4", "ICD9:429.0", "KEGG.DISEASE:05416", "HP:0012819"], "information_content": 83.6}
{"id": "MONDO:0009124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dubowitz syndrome", "equivalent_identifiers": ["MONDO:0009124", "DOID:14796", "OMIM:223370", "orphanet:235", "UMLS:C0175691", "MESH:C535718", "MEDDRA:10059589", "NCIT:C125591", "SNOMEDCT:2593002", "medgen:59797", "icd11.foundation:758537040"], "information_content": 100.0}
{"id": "MONDO:0005441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otitis media", "equivalent_identifiers": ["MONDO:0005441", "DOID:10754", "EFO:0004992", "UMLS:C0029882", "MESH:D010033", "MEDDRA:10027585", "MEDDRA:10033078", "MEDDRA:10033084", "MEDDRA:10046087", "MEDDRA:10056747", "MEDDRA:10065838", "NCIT:C34885", "SNOMEDCT:65363002", "medgen:45253", "icd11.foundation:1079654421", "ICD10:H66.9", "ICD9:382.9", "HP:0000388"], "information_content": 77.8}
{"id": "MONDO:0004967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute lymphoblastic leukemia", "equivalent_identifiers": ["MONDO:0004967", "DOID:9952", "OMIM:613065", "orphanet:513", "EFO:0000220", "UMLS:C0023449", "UMLS:C0023453", "UMLS:C1961102", "UMLS:C2751594", "UMLS:C2751595", "UMLS:C2751596", "UMLS:C2751597", "UMLS:C2751598", "MESH:D054198", "MEDDRA:10000842", "MEDDRA:10000843", "MEDDRA:10000844", "MEDDRA:10000845", "MEDDRA:10000846", "MEDDRA:10000848", "MEDDRA:10000849", "MEDDRA:10024290", "MEDDRA:10024338", "MEDDRA:10025301", "MEDDRA:10025305", "MEDDRA:10060390", "MEDDRA:10060555", "NCIT:C27281", "NCIT:C3167", "SNOMEDCT:128822004", "SNOMEDCT:91857003", "medgen:7317", "ICD10:C91.00", "ICD9:204.0", "HP:0006721"], "information_content": 64.8}
{"id": "MONDO:0007683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Grant syndrome", "equivalent_identifiers": ["MONDO:0007683", "OMIM:138930", "orphanet:2097", "UMLS:C1841835", "MESH:C537293", "SNOMEDCT:723827003", "medgen:333925", "icd11.foundation:1320218486"], "information_content": 100.0}
{"id": "MONDO:0013389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 12", "equivalent_identifiers": ["MONDO:0013389", "DOID:0080459", "OMIM:613722", "UMLS:C3150988", "medgen:462338"], "information_content": 100.0}
{"id": "MONDO:0009390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlysinuria with hyperammonemia", "equivalent_identifiers": ["MONDO:0009390", "OMIM:238750", "UMLS:C0268555", "SNOMEDCT:341536001", "SNOMEDCT:342553006", "medgen:120650"], "information_content": 100.0}
{"id": "MONDO:0014814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "advanced sleep phase syndrome 3", "equivalent_identifiers": ["MONDO:0014814", "DOID:0110013", "OMIM:616882", "UMLS:C4225169", "medgen:909447"], "information_content": 100.0}
{"id": "HP:0031873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early chronotype", "equivalent_identifiers": ["HP:0031873", "UMLS:C4227503", "UMLS:C4703587"], "information_content": 100.0}
{"id": "MONDO:0032866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical dysplasia, complex, with other brain malformations 10", "equivalent_identifiers": ["MONDO:0032866", "OMIM:618677", "UMLS:C5231458", "medgen:1684859"], "information_content": 100.0}
{"id": "HP:0032390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periventricular ribbonlike heterotopia", "equivalent_identifiers": ["HP:0032390", "UMLS:C5139311"], "information_content": 100.0}
{"id": "HP:0006891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick cerebral cortex", "equivalent_identifiers": ["HP:0006891", "UMLS:C4024970"], "information_content": 92.8}
{"id": "MONDO:0018382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphysiolysis of the hip", "equivalent_identifiers": ["MONDO:0018382", "OMIM:182260", "orphanet:399329", "UMLS:C0149887", "MESH:D060048", "MEDDRA:10041027", "MEDDRA:10041028", "MEDDRA:10057733", "NCIT:C118384", "SNOMEDCT:26460006", "medgen:57704", "HP:0006461"], "information_content": 100.0}
{"id": "MONDO:0014820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)", "equivalent_identifiers": ["MONDO:0014820", "DOID:0080336", "OMIM:616896", "UMLS:C4225163", "medgen:903789"], "information_content": 100.0}
{"id": "MONDO:0012043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reis-Bucklers corneal dystrophy", "equivalent_identifiers": ["MONDO:0012043", "DOID:0060453", "OMIM:608470", "orphanet:98961", "UMLS:C0339278", "MESH:C535476", "SNOMEDCT:231930000", "medgen:83284"], "information_content": 100.0}
{"id": "HP:0100540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palpebral edema", "equivalent_identifiers": ["HP:0100540", "UMLS:C0162285", "MEDDRA:10014221", "MEDDRA:10014237", "MEDDRA:10015985", "MEDDRA:10015993", "MEDDRA:10049850", "MEDDRA:10050069", "MEDDRA:10050580", "MEDDRA:10055908", "MEDDRA:10055919", "MEDDRA:10055931", "MEDDRA:10055935", "SNOMEDCT:89091004"], "information_content": 89.4}
{"id": "MONDO:0032858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 81", "equivalent_identifiers": ["MONDO:0032858", "DOID:0112217", "OMIM:618663", "UMLS:C5231450", "medgen:1684681"], "information_content": 100.0}
{"id": "HP:0002266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal clonic seizure", "equivalent_identifiers": ["HP:0002266", "UMLS:C0752323", "SNOMEDCT:1269363000"], "information_content": 85.5}
{"id": "MONDO:0007554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 1B, generalized intermediate", "equivalent_identifiers": ["MONDO:0007554", "DOID:0080511", "OMIM:131900", "orphanet:79399", "UMLS:C0079299", "UMLS:C5561924", "SNOMEDCT:90496008", "medgen:1794134"], "information_content": 100.0}
{"id": "HP:0034194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Suprabasal cleavage", "equivalent_identifiers": ["HP:0034194", "UMLS:C5676783"], "information_content": 100.0}
{"id": "MONDO:0100522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 4", "equivalent_identifiers": ["MONDO:0100522", "DOID:0110701", "OMIM:146550", "UMLS:C2750815", "MESH:C567718", "medgen:413053"], "information_content": 100.0}
{"id": "HP:0030056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uncombable hair", "equivalent_identifiers": ["HP:0030056", "UMLS:C1860607"], "information_content": 100.0}
{"id": "MONDO:0013397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acne inversa, familial, 2", "equivalent_identifiers": ["MONDO:0013397", "OMIM:613736", "UMLS:C3151037", "medgen:462387"], "information_content": 100.0}
{"id": "MONDO:0012171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "marfanoid habitus with situs inversus", "equivalent_identifiers": ["MONDO:0012171", "OMIM:609008", "UMLS:C1836994", "MESH:C563814", "medgen:323046"], "information_content": 100.0}
{"id": "MONDO:0020778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy and hearing loss 1", "equivalent_identifiers": ["MONDO:0020778", "OMIM:617236", "UMLS:C5193018", "medgen:1682048"], "information_content": 100.0}
{"id": "HP:0012047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemeralopia", "equivalent_identifiers": ["HP:0012047", "UMLS:C0018975", "MEDDRA:10005178", "MEDDRA:10019451", "SNOMEDCT:399323001"], "information_content": 100.0}
{"id": "MONDO:0010710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pierre Robin syndrome-faciodigital anomaly syndrome", "equivalent_identifiers": ["MONDO:0010710", "OMIM:311895", "orphanet:2888", "UMLS:C2931064", "MESH:C535926", "MESH:C564078", "SNOMEDCT:723461007", "medgen:443969"], "information_content": 100.0}
{"id": "HP:0005747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Easily subluxated first metacarpophalangeal joints", "equivalent_identifiers": ["HP:0005747", "UMLS:C4025143"], "information_content": 100.0}
{"id": "MONDO:0859314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 108", "equivalent_identifiers": ["MONDO:0859314", "DOID:0070394", "OMIM:620115", "UMLS:C5774253", "medgen:1824026"], "information_content": 100.0}
{"id": "HP:0025190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral tonic-clonic seizure with generalized onset", "equivalent_identifiers": ["HP:0025190", "UMLS:C4476643"], "information_content": 92.8}
{"id": "MONDO:0054730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 26", "equivalent_identifiers": ["MONDO:0054730", "DOID:0111924", "OMIM:617961", "UMLS:C4693773", "medgen:1644751"], "information_content": 100.0}
{"id": "MONDO:0030908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked, syndromic, 35", "equivalent_identifiers": ["MONDO:0030908", "DOID:0080241", "OMIM:300998", "UMLS:C4478383", "medgen:1392054"], "information_content": 100.0}
{"id": "HP:0011234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent antihelix", "equivalent_identifiers": ["HP:0011234", "UMLS:C4023448"], "information_content": 100.0}
{"id": "MONDO:0008922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sengers syndrome", "equivalent_identifiers": ["MONDO:0008922", "DOID:0080132", "OMIM:212350", "orphanet:1369", "UMLS:C1859317", "MESH:C538280", "SNOMEDCT:717812000", "medgen:395228"], "information_content": 100.0}
{"id": "MONDO:0009637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn mitochondrial myopathy", "equivalent_identifiers": ["MONDO:0009637", "DOID:699", "orphanet:206966", "UMLS:C0162670", "MESH:D017240", "MEDDRA:10027710", "NCIT:C101328", "SNOMEDCT:16851005", "medgen:56484", "icd11.foundation:601991549", "HP:0003737"], "information_content": 71.9}
{"id": "HP:0004901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced lactic acidemia", "equivalent_identifiers": ["HP:0004901", "UMLS:C4025277"], "information_content": 100.0}
{"id": "MONDO:0012592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 11", "equivalent_identifiers": ["MONDO:0012592", "DOID:0110351", "OMIM:610968", "UMLS:C3151218", "medgen:462568"], "information_content": 100.0}
{"id": "HP:0004586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biconcave vertebral bodies", "equivalent_identifiers": ["HP:0004586", "UMLS:C1856087"], "information_content": 90.9}
{"id": "MONDO:0008320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protrusio acetabuli", "equivalent_identifiers": ["MONDO:0008320", "OMIM:177050", "UMLS:C0343174", "UMLS:C0409495", "MEDDRA:10090179", "SNOMEDCT:239881008", "SNOMEDCT:59606006", "medgen:98369", "HP:0003179"], "information_content": 100.0}
{"id": "HP:0008422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral wedging", "equivalent_identifiers": ["HP:0008422", "UMLS:C1695776"], "information_content": 88.2}
{"id": "MONDO:0007363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital contractural arachnodactyly", "equivalent_identifiers": ["MONDO:0007363", "DOID:0111595", "OMIM:121050", "orphanet:115", "UMLS:C0220668", "MESH:C536211", "NCIT:C129865", "SNOMEDCT:205821003", "medgen:67391", "icd11.foundation:1376425921"], "information_content": 100.0}
{"id": "HP:0008453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital kyphoscoliosis", "equivalent_identifiers": ["HP:0008453", "UMLS:C0345392", "MEDDRA:10048890", "SNOMEDCT:405772002"], "information_content": 100.0}
{"id": "HP:0008962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calf muscle hypoplasia", "equivalent_identifiers": ["HP:0008962", "UMLS:C3805450"], "information_content": 100.0}
{"id": "HP:0010499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patellar subluxation", "equivalent_identifiers": ["HP:0010499", "UMLS:C0857276", "MEDDRA:10042410"], "information_content": 100.0}
{"id": "HP:0001836", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camptodactyly of toe", "equivalent_identifiers": ["HP:0001836", "UMLS:C4021774"], "information_content": 85.5}
{"id": "MONDO:0007917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphedema-cerebral arteriovenous anomaly syndrome", "equivalent_identifiers": ["MONDO:0007917", "OMIM:152900", "orphanet:86914", "UMLS:C1835272", "MESH:C563612", "medgen:322617"], "information_content": 100.0}
{"id": "HP:0100659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebral vascular morphology", "equivalent_identifiers": ["HP:0100659", "UMLS:C4022001"], "information_content": 71.0}
{"id": "MONDO:0030696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 20 (mngie type)", "equivalent_identifiers": ["MONDO:0030696", "DOID:0070451", "OMIM:619780", "UMLS:C5676934", "medgen:1804209"], "information_content": 100.0}
{"id": "HP:0006994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse leukoencephalopathy", "equivalent_identifiers": ["HP:0006994", "UMLS:C1868514"], "information_content": 100.0}
{"id": "MONDO:0031021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 104", "equivalent_identifiers": ["MONDO:0031021", "DOID:0070390", "OMIM:619970", "UMLS:C5774183", "medgen:1823956"], "information_content": 100.0}
{"id": "MONDO:0009508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lambotte syndrome", "equivalent_identifiers": ["MONDO:0009508", "OMIM:245552", "UMLS:C1855550", "MESH:C537549", "medgen:343380"], "information_content": 100.0}
{"id": "MONDO:0011866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 1A", "equivalent_identifiers": ["MONDO:0011866", "DOID:0060265", "OMIM:607596", "UMLS:C1843504", "medgen:335969"], "information_content": 100.0}
{"id": "HP:0200147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neuronal loss in basal ganglia", "equivalent_identifiers": ["HP:0200147", "UMLS:C2750913"], "information_content": 100.0}
{"id": "HP:0006850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the ventral pons", "equivalent_identifiers": ["HP:0006850", "UMLS:C1843507"], "information_content": 100.0}
{"id": "HP:0004878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intercostal muscle weakness", "equivalent_identifiers": ["HP:0004878", "UMLS:C0240017", "UMLS:C5539401"], "information_content": 100.0}
{"id": "HP:0006999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basal ganglia gliosis", "equivalent_identifiers": ["HP:0006999", "UMLS:C1864114", "UMLS:C2750915"], "information_content": 95.4}
{"id": "MONDO:0011703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spongiform encephalopathy with neuropsychiatric features", "equivalent_identifiers": ["MONDO:0011703", "OMIM:606688", "UMLS:C1847650", "MESH:C564678", "medgen:339812"], "information_content": 100.0}
{"id": "HP:0006790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral cortex with spongiform changes", "equivalent_identifiers": ["HP:0006790", "UMLS:C1857934"], "information_content": 100.0}
{"id": "MONDO:0007353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma of macula-brachydactyly type B syndrome", "equivalent_identifiers": ["MONDO:0007353", "OMIM:120400", "orphanet:1471", "UMLS:C1852752", "MESH:C535969", "SNOMEDCT:717785002", "medgen:343882"], "information_content": 100.0}
{"id": "MONDO:0007220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type B1", "equivalent_identifiers": ["MONDO:0007220", "DOID:0110969", "OMIM:113000", "orphanet:572385", "UMLS:C1862112", "MESH:C566196", "medgen:349432", "HP:0005831"], "information_content": 100.0}
{"id": "MONDO:0012589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pitt-Hopkins syndrome", "equivalent_identifiers": ["MONDO:0012589", "DOID:0060488", "OMIM:610954", "orphanet:2896", "UMLS:C1970431", "MESH:C537403", "NCIT:C129872", "SNOMEDCT:702344008", "medgen:370910", "icd11.foundation:2040786134"], "information_content": 100.0}
{"id": "HP:0025325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse medial eyebrow", "equivalent_identifiers": ["HP:0025325", "UMLS:C1860256"], "information_content": 100.0}
{"id": "HP:0000454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared nostrils", "equivalent_identifiers": ["HP:0000454", "UMLS:C4551517"], "information_content": 100.0}
{"id": "HP:0011300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad fingertip", "equivalent_identifiers": ["HP:0011300", "UMLS:C1968816"], "information_content": 100.0}
{"id": "HP:0034250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal nuchal edema", "equivalent_identifiers": ["HP:0034250", "UMLS:C5676830"], "information_content": 100.0}
{"id": "MONDO:0971176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 11", "equivalent_identifiers": ["MONDO:0971176", "OMIM:620897", "UMLS:C5935637", "medgen:1856331"], "information_content": 100.0}
{"id": "HP:0010463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the ovary", "equivalent_identifiers": ["HP:0010463", "UMLS:C0266368", "UMLS:C4732745", "UMLS:C5967297", "MEDDRA:10033120", "SNOMEDCT:1003512001", "SNOMEDCT:1144554007", "SNOMEDCT:12017008"], "information_content": 100.0}
{"id": "HP:0012569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed menarche", "equivalent_identifiers": ["HP:0012569", "UMLS:C0949173", "MEDDRA:10063961", "SNOMEDCT:455761000124103"], "information_content": 95.4}
{"id": "HP:0031103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating antimullerian hormone circulation", "equivalent_identifiers": ["HP:0031103", "UMLS:C4476972"], "information_content": 100.0}
{"id": "MONDO:0011158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome type 1", "equivalent_identifiers": ["MONDO:0011158", "OMIM:601859", "UMLS:C1328840", "UMLS:C1866119", "UMLS:C1866120", "UMLS:C1866121", "MESH:C566613", "MESH:C566614", "MESH:C566615", "MEDDRA:10069521", "NCIT:C39574", "NCIT:C39575", "SNOMEDCT:702444009", "medgen:231300"], "information_content": 89.4}
{"id": "HP:0003453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antineutrophil antibody positivity", "equivalent_identifiers": ["HP:0003453", "UMLS:C1858981"], "information_content": 88.2}
{"id": "HP:0003454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Platelet antibody positive", "equivalent_identifiers": ["HP:0003454", "UMLS:C1858980"], "information_content": 100.0}
{"id": "HP:0002853", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased HLA DR+ CD4+ T cell proportion", "equivalent_identifiers": ["HP:0002853", "UMLS:C1858974", "UMLS:C4703376"], "information_content": 100.0}
{"id": "HP:0002730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic noninfectious lymphadenopathy", "equivalent_identifiers": ["HP:0002730", "UMLS:C1858970"], "information_content": 100.0}
{"id": "HP:0003262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-smooth muscle antibody positivity", "equivalent_identifiers": ["HP:0003262", "UMLS:C0241185", "MEDDRA:10041229", "SNOMEDCT:310290006"], "information_content": 100.0}
{"id": "HP:0003613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antiphospholipid antibody positivity", "equivalent_identifiers": ["HP:0003613", "UMLS:C4019436"], "information_content": 92.8}
{"id": "MONDO:0013210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 25", "equivalent_identifiers": ["MONDO:0013210", "DOID:0110483", "OMIM:613285", "UMLS:C1414017", "medgen:237587"], "information_content": 100.0}
{"id": "MONDO:0007416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Balkan nephropathy", "equivalent_identifiers": ["MONDO:0007416", "DOID:3052", "OMIM:124100", "EFO:0007164", "UMLS:C0004698", "UMLS:C4049993", "MESH:D001449", "MEDDRA:10086674", "NCIT:C123025", "SNOMEDCT:26121002", "SNOMEDCT:717770008", "medgen:495", "icd11.foundation:18497836", "ICD10:N15.0"], "information_content": 100.0}
{"id": "MONDO:0009013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "convulsive disorder, familial, with prenatal or early onset", "equivalent_identifiers": ["MONDO:0009013", "OMIM:217200", "UMLS:C1857575", "MESH:C565678", "medgen:387859"], "information_content": 100.0}
{"id": "MONDO:0014364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 8", "equivalent_identifiers": ["MONDO:0014364", "DOID:0080117", "OMIM:615838", "UMLS:C4014440", "medgen:862877"], "information_content": 100.0}
{"id": "MONDO:0009622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jawad syndrome", "equivalent_identifiers": ["MONDO:0009622", "OMIM:251255", "orphanet:313795", "UMLS:C0796063", "MESH:C567101", "SNOMEDCT:771470001", "medgen:810673"], "information_content": 100.0}
{"id": "HP:0005780", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent fourth finger distal interphalangeal crease", "equivalent_identifiers": ["HP:0005780", "UMLS:C4021621"], "information_content": 100.0}
{"id": "MONDO:0013214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bile acid malabsorption, primary, 1", "equivalent_identifiers": ["MONDO:0013214", "OMIM:613291", "UMLS:C2750087", "UMLS:C5561934", "MESH:C567652", "medgen:1794144"], "information_content": 100.0}
{"id": "HP:0034043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal bile acid", "equivalent_identifiers": ["HP:0034043", "UMLS:C3808303"], "information_content": 100.0}
{"id": "MONDO:0010524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked sideroblastic anemia with ataxia", "equivalent_identifiers": ["MONDO:0010524", "DOID:0050554", "OMIM:301310", "orphanet:2802", "UMLS:C1845028", "MESH:C536358", "SNOMEDCT:719816006", "medgen:335078"], "information_content": 100.0}
{"id": "HP:0020081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pappenheimer bodies", "equivalent_identifiers": ["HP:0020081", "UMLS:C0333814", "SNOMEDCT:20589000", "SNOMEDCT:250235004"], "information_content": 100.0}
{"id": "MONDO:0005395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "movement disorder", "equivalent_identifiers": ["MONDO:0005395", "DOID:480", "EFO:0004280", "UMLS:C0026650", "MESH:D009069", "MEDDRA:10013927", "MEDDRA:10028035", "MEDDRA:10028036", "MEDDRA:10028040", "NCIT:C116757", "SNOMEDCT:60342002", "medgen:10113", "HP:0100022"], "information_content": 56.9}
{"id": "HP:0002363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal brainstem morphology", "equivalent_identifiers": ["HP:0002363", "UMLS:C1850601"], "information_content": 64.7}
{"id": "HP:0034280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Target cells", "equivalent_identifiers": ["HP:0034280"], "information_content": 100.0}
{"id": "HP:0031020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone marrow hypercellularity", "equivalent_identifiers": ["HP:0031020", "UMLS:C0427703"], "information_content": 100.0}
{"id": "HP:0032550", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Howell-Jolly bodies", "equivalent_identifiers": ["HP:0032550", "UMLS:C0020058", "SNOMEDCT:250234000", "SNOMEDCT:80653007"], "information_content": 100.0}
{"id": "MONDO:0012559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary immunodeficiency syndrome due to p14 deficiency", "equivalent_identifiers": ["MONDO:0012559", "OMIM:610798", "orphanet:90023", "UMLS:C1835829", "UMLS:C4305256", "MESH:C563663", "SNOMEDCT:718717004", "medgen:372135", "icd11.foundation:813140844"], "information_content": 100.0}
{"id": "HP:0006538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent bronchopulmonary infections", "equivalent_identifiers": ["HP:0006538", "UMLS:C2169795"], "information_content": 100.0}
{"id": "MONDO:0008948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrotendinous xanthomatosis", "equivalent_identifiers": ["MONDO:0008948", "DOID:4810", "OMIM:213700", "orphanet:909", "UMLS:C0238052", "MESH:D019294", "NCIT:C84628", "SNOMEDCT:63246000", "medgen:116041", "icd11.foundation:1556875179"], "information_content": 100.0}
{"id": "HP:0100291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed somatosensory central conduction time", "equivalent_identifiers": ["HP:0100291", "UMLS:C4022163"], "information_content": 100.0}
{"id": "HP:6001007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary bile alcohol level", "equivalent_identifiers": ["HP:6001007", "UMLS:C5970347"], "information_content": 100.0}
{"id": "HP:0010845", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with generalized slow activity", "equivalent_identifiers": ["HP:0010845", "UMLS:C4021217"], "information_content": 87.2}
{"id": "HP:0031290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tuberous xanthoma", "equivalent_identifiers": ["HP:0031290", "UMLS:C0302164", "MEDDRA:10045139", "SNOMEDCT:238954002"], "information_content": 100.0}
{"id": "MONDO:0006930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudobulbar palsy", "equivalent_identifiers": ["MONDO:0006930", "DOID:12680", "EFO:1001131", "UMLS:C0033790", "MESH:D020828", "MEDDRA:10037114", "MEDDRA:10052888", "NCIT:C129934", "SNOMEDCT:7379000", "medgen:10989", "ICD9:335.23", "HP:0007024"], "information_content": 100.0}
{"id": "HP:0003482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: axonal abnormality", "equivalent_identifiers": ["HP:0003482", "UMLS:C4025609"], "information_content": 95.4}
{"id": "HP:6000821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating bile alcohol concentration", "equivalent_identifiers": ["HP:6000821", "UMLS:C5937542"], "information_content": 100.0}
{"id": "HP:6000203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF cholestanol concentration", "equivalent_identifiers": ["HP:6000203", "UMLS:C5937034"], "information_content": 100.0}
{"id": "HP:0100321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dentate nucleus morphology", "equivalent_identifiers": ["HP:0100321", "UMLS:C4022148"], "information_content": 88.2}
{"id": "MONDO:0859263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, impaired speech, and behavioral abnormalities, with or without seizures", "equivalent_identifiers": ["MONDO:0859263", "OMIM:619964", "UMLS:C5575272", "medgen:1811329"], "information_content": 100.0}
{"id": "MONDO:0013674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 4", "equivalent_identifiers": ["MONDO:0013674", "DOID:0110738", "OMIM:614298", "orphanet:289560", "UMLS:C3280371", "NCIT:C175707", "SNOMEDCT:709415008", "medgen:482001"], "information_content": 100.0}
{"id": "HP:0002454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eye of the tiger anomaly of globus pallidus", "equivalent_identifiers": ["HP:0002454", "UMLS:C4025705"], "information_content": 100.0}
{"id": "MONDO:0011392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 20", "equivalent_identifiers": ["MONDO:0011392", "DOID:0110478", "OMIM:604060", "UMLS:C1858840", "MESH:C565828", "medgen:347005"], "information_content": 100.0}
{"id": "MONDO:0009185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelocerebrohypohidrotic syndrome", "equivalent_identifiers": ["MONDO:0009185", "DOID:0111668", "OMIM:226750", "orphanet:1946", "UMLS:C0406740", "MESH:C537213", "SNOMEDCT:109478007", "medgen:98036"], "information_content": 100.0}
{"id": "MONDO:0032757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 41", "equivalent_identifiers": ["MONDO:0032757", "DOID:0111858", "OMIM:618449", "UMLS:C5193103", "medgen:1680404"], "information_content": 100.0}
{"id": "HP:0031603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired nasal mucociliary clearance", "equivalent_identifiers": ["HP:0031603", "UMLS:C4703436", "UMLS:C4703437"], "information_content": 100.0}
{"id": "MONDO:0012393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital brain dysgenesis due to glutamine synthetase deficiency", "equivalent_identifiers": ["MONDO:0012393", "DOID:0070544", "OMIM:610015", "orphanet:71278", "UMLS:C1864910", "MESH:C536832", "medgen:400638", "icd11.foundation:238162640"], "information_content": 100.0}
{"id": "HP:0500147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglutaminemia", "equivalent_identifiers": ["HP:0500147", "UMLS:C4732901"], "information_content": 95.4}
{"id": "HP:0500198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF glutamine concentration", "equivalent_identifiers": ["HP:0500198", "UMLS:C5139583"], "information_content": 100.0}
{"id": "MONDO:0012557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy-hypotonia-lactic acidosis syndrome", "equivalent_identifiers": ["MONDO:0012557", "OMIM:610773", "orphanet:91130", "UMLS:C1835845", "UMLS:C4305259", "MESH:C563665", "SNOMEDCT:1187515001", "SNOMEDCT:718713000", "medgen:324373"], "information_content": 100.0}
{"id": "HP:0012087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mitochondrial shape", "equivalent_identifiers": ["HP:0012087", "UMLS:C4023050"], "information_content": 88.2}
{"id": "MONDO:0033572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies", "equivalent_identifiers": ["MONDO:0033572", "OMIM:619031", "UMLS:C5436646", "medgen:1759589"], "information_content": 100.0}
{"id": "MONDO:0012218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dandy-walker malformation with occipital cephalocele, autosomal dominant", "equivalent_identifiers": ["MONDO:0012218", "OMIM:609222", "UMLS:C2674987", "MESH:C567185", "medgen:393273"], "information_content": 100.0}
{"id": "HP:0004488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrocephaly at birth", "equivalent_identifiers": ["HP:0004488", "NCIT:C35653", "UMLS:C1836599", "MEDDRA:10049496", "SNOMEDCT:1145402008"], "information_content": 100.0}
{"id": "HP:0004470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atretic occipital cephalocele", "equivalent_identifiers": ["HP:0004470", "UMLS:C1836600"], "information_content": 100.0}
{"id": "MONDO:0012812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 4", "equivalent_identifiers": ["MONDO:0012812", "DOID:0080436", "OMIM:612164", "orphanet:599373", "UMLS:C2677326", "MESH:C567404", "NCIT:C162472", "SNOMEDCT:768666006", "medgen:436917"], "information_content": 100.0}
{"id": "HP:0001151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired horizontal smooth pursuit", "equivalent_identifiers": ["HP:0001151", "UMLS:C1866753"], "information_content": 100.0}
{"id": "HP:0007105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infantile encephalopathy", "equivalent_identifiers": ["HP:0007105", "UMLS:C1856408"], "information_content": 100.0}
{"id": "MONDO:0009099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrogenic diabetes insipidus-intracranial calcification syndrome", "equivalent_identifiers": ["MONDO:0009099", "OMIM:221995", "orphanet:3145", "UMLS:C1857297", "UMLS:C2931070", "MESH:C535949", "MESH:C565632", "SNOMEDCT:716200002", "medgen:387791"], "information_content": 100.0}
{"id": "MONDO:0013787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psychomotor retardation, epilepsy, and craniofacial dysmorphism", "equivalent_identifiers": ["MONDO:0013787", "OMIM:614501", "UMLS:C3281055", "medgen:482685"], "information_content": 100.0}
{"id": "HP:0012802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad jaw", "equivalent_identifiers": ["HP:0012802", "UMLS:C3281059"], "information_content": 100.0}
{"id": "MONDO:0014862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral palsy, spastic quadriplegic, 3", "equivalent_identifiers": ["MONDO:0014862", "DOID:0081361", "OMIM:617008", "UMLS:C4310767", "medgen:934734"], "information_content": 100.0}
{"id": "HP:0025711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Convergence-retraction nystagmus", "equivalent_identifiers": ["HP:0025711", "UMLS:C2939429", "SNOMEDCT:373590007"], "information_content": 100.0}
{"id": "MONDO:0033570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 50", "equivalent_identifiers": ["MONDO:0033570", "DOID:0112111", "OMIM:619025", "UMLS:C5436623", "medgen:1753519"], "information_content": 100.0}
{"id": "MONDO:0014654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ullrich congenital muscular dystrophy 2", "equivalent_identifiers": ["MONDO:0014654", "DOID:0060948", "OMIM:616470", "UMLS:C4225314", "medgen:899150"], "information_content": 100.0}
{"id": "MONDO:0859228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 55", "equivalent_identifiers": ["MONDO:0859228", "DOID:0070428", "OMIM:619743", "UMLS:C5676915", "medgen:1806598"], "information_content": 100.0}
{"id": "HP:0012408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medullary nephrocalcinosis", "equivalent_identifiers": ["HP:0012408", "UMLS:C0403477", "SNOMEDCT:236447005"], "information_content": 100.0}
{"id": "MONDO:0060778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult Fanconi syndrome", "equivalent_identifiers": ["MONDO:0060778", "UMLS:C0341703", "NCIT:C4377", "SNOMEDCT:236468006", "SNOMEDCT:44673006", "medgen:137960", "HP:0001994"], "information_content": 100.0}
{"id": "MONDO:0008563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thumb stiffness-brachydactyly-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008563", "OMIM:188201", "orphanet:1078", "UMLS:C1861166", "MESH:C566053", "medgen:396073"], "information_content": 100.0}
{"id": "MONDO:0014070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 7", "equivalent_identifiers": ["MONDO:0014070", "DOID:0070100", "OMIM:615179", "orphanet:352745", "UMLS:C3808786", "SNOMEDCT:722059002", "medgen:815116"], "information_content": 100.0}
{"id": "MONDO:0010501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 34", "equivalent_identifiers": ["MONDO:0010501", "DOID:0060817", "OMIM:300967", "orphanet:466791", "UMLS:C4225417", "medgen:902184"], "information_content": 100.0}
{"id": "HP:0011819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Submucous cleft soft palate", "equivalent_identifiers": ["HP:0011819", "UMLS:C4023175"], "information_content": 95.4}
{"id": "HP:0004411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviated nasal septum", "equivalent_identifiers": ["HP:0004411", "NCIT:C120906", "UMLS:C0549397", "MEDDRA:10012138", "MEDDRA:10012573", "MEDDRA:10028762", "SNOMEDCT:126660000"], "information_content": 100.0}
{"id": "HP:0009640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synostosis of the proximal phalanx of the thumb with the 1st metacarpal", "equivalent_identifiers": ["HP:0009640", "UMLS:C4024262"], "information_content": 100.0}
{"id": "MONDO:0008189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillomatosis, florid, of nipple", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008189", "OMIM:167950", "UMLS:C1868647", "MESH:C000626393", "MESH:C537167", "SNOMEDCT:237467005", "medgen:401492"], "information_content": 100.0}
{"id": "MONDO:0032771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paragangliomas 7", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0032771", "OMIM:618475", "UMLS:C5193116", "medgen:1673088"], "information_content": 100.0}
{"id": "MONDO:0008233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pheochromocytoma", "equivalent_identifiers": ["MONDO:0008233", "DOID:0050771", "OMIM:171300", "UMLS:C0031511", "UMLS:C3149711", "MESH:D010673", "medgen:18419", "HP:0002666"], "information_content": 90.9}
{"id": "MONDO:0011744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary intraosseous venous malformation", "equivalent_identifiers": ["MONDO:0011744", "OMIM:606893", "orphanet:140436", "UMLS:C1847197", "MESH:C564648", "SNOMEDCT:764100007", "medgen:376071"], "information_content": 100.0}
{"id": "HP:0410276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supraumbilical raphe", "equivalent_identifiers": ["HP:0410276", "UMLS:C4539078"], "information_content": 100.0}
{"id": "HP:4000093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic tooth eruption", "equivalent_identifiers": ["HP:4000093", "UMLS:C0040438", "MESH:D014079"], "information_content": 100.0}
{"id": "MONDO:0006810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial hypertension", "equivalent_identifiers": ["MONDO:0006810", "DOID:9428", "EFO:1000992", "UMLS:C0151740", "MESH:D019586", "MEDDRA:10011570", "MEDDRA:10020780", "MEDDRA:10021665", "MEDDRA:10022764", "MEDDRA:10022765", "MEDDRA:10022772", "MEDDRA:10022773", "MEDDRA:10022774", "MEDDRA:10036642", "MEDDRA:10036647", "NCIT:C187268", "NCIT:C84791", "SNOMEDCT:271719001", "medgen:56241", "HP:0002516"], "information_content": 90.9}
{"id": "MONDO:0001357", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypochromic anemia", "equivalent_identifiers": ["MONDO:0001357", "DOID:11759", "UMLS:C0002884", "UMLS:C0271900", "MESH:D000747", "MEDDRA:10002060", "MEDDRA:10002293", "MEDDRA:10020969", "MEDDRA:10020971", "MEDDRA:10086859", "MEDDRA:10086860", "NCIT:C34380", "SNOMEDCT:44452003", "medgen:8065", "ICD10:D50", "HP:0001931"], "information_content": 84.8}
{"id": "MONDO:0060592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sweeney-Cox syndrome", "equivalent_identifiers": ["MONDO:0060592", "DOID:0080538", "OMIM:617746", "UMLS:C4540299", "medgen:1625659"], "information_content": 100.0}
{"id": "HP:0010715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-5 toe syndactyly", "equivalent_identifiers": ["HP:0010715", "UMLS:C4023724"], "information_content": 95.4}
{"id": "MONDO:0009975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticulosarcoma", "equivalent_identifiers": ["MONDO:0009975", "DOID:8538", "OMIM:267730", "orphanet:86900", "EFO:0005287", "UMLS:C0024302", "MEDDRA:10038804", "NCIT:C27824", "SNOMEDCT:189982000", "SNOMEDCT:373168002", "medgen:44224", "ICD9:200.0"], "information_content": 95.4}
{"id": "MONDO:0005089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcoma", "equivalent_identifiers": ["MONDO:0005089", "DOID:1115", "EFO:0000691", "UMLS:C0153519", "UMLS:C1261473", "MESH:D012509", "MEDDRA:10039491", "MEDDRA:10039494", "NCIT:C9118", "SNOMEDCT:1187396000", "SNOMEDCT:424413001", "medgen:224714", "ICD10:C49", "ICD9:171.9", "HP:0100242"], "information_content": 53.1}
{"id": "MONDO:0012808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1AA", "equivalent_identifiers": ["MONDO:0012808", "DOID:0110428", "OMIM:612158", "UMLS:C2677338", "UMLS:C4225403", "MESH:C567407", "medgen:393713"], "information_content": 100.0}
{"id": "MONDO:0014289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014289", "DOID:0081206", "OMIM:615637", "orphanet:397612", "UMLS:C3810225", "medgen:816555"], "information_content": 100.0}
{"id": "MONDO:0007244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caffey disease", "equivalent_identifiers": ["MONDO:0007244", "DOID:4257", "OMIM:114000", "orphanet:1310", "UMLS:C0020497", "MESH:D006958", "MEDDRA:10073206", "MEDDRA:10073208", "NCIT:C118423", "NCIT:C84645", "SNOMEDCT:24752008", "medgen:43781", "ICD10:M89.8"], "information_content": 100.0}
{"id": "HP:0031485", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subperiosteal bone formation", "equivalent_identifiers": ["HP:0031485", "UMLS:C2674853"], "information_content": 100.0}
{"id": "HP:6000811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened cortex of the radius", "equivalent_identifiers": ["HP:6000811", "UMLS:C5937536"], "information_content": 100.0}
{"id": "HP:6000936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened cortex of the clavicle", "equivalent_identifiers": ["HP:6000936", "UMLS:C5970285"], "information_content": 100.0}
{"id": "HP:6000812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened cortex of the ulna", "equivalent_identifiers": ["HP:6000812", "UMLS:C5937537"], "information_content": 100.0}
{"id": "HP:6000937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened cortex of the mandible", "equivalent_identifiers": ["HP:6000937", "UMLS:C5970286"], "information_content": 100.0}
{"id": "HP:6000809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened tibial cortex", "equivalent_identifiers": ["HP:6000809", "UMLS:C5937534"], "information_content": 100.0}
{"id": "HP:0006465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periosteal thickening of long tubular bones", "equivalent_identifiers": ["HP:0006465", "UMLS:C1834345"], "information_content": 100.0}
{"id": "MONDO:0008590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 1", "equivalent_identifiers": ["MONDO:0008590", "DOID:0111428", "OMIM:190300", "UMLS:C1860861", "MESH:C536545", "medgen:349909"], "information_content": 100.0}
{"id": "MONDO:0032670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 20", "equivalent_identifiers": ["MONDO:0032670", "DOID:0111891", "OMIM:618313", "UMLS:C5193022", "medgen:1674961"], "information_content": 100.0}
{"id": "MONDO:0014868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 38", "equivalent_identifiers": ["MONDO:0014868", "DOID:0080417", "OMIM:617020", "UMLS:C4310762", "medgen:934729"], "information_content": 100.0}
{"id": "MONDO:0009885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scott syndrome", "equivalent_identifiers": ["MONDO:0009885", "DOID:0111052", "OMIM:262890", "orphanet:806", "UMLS:C0796149", "MESH:C563120", "SNOMEDCT:128098009", "medgen:167107", "icd11.foundation:186013982"], "information_content": 100.0}
{"id": "HP:0008354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Factor X activation deficiency", "equivalent_identifiers": ["HP:0008354", "UMLS:C4024693"], "information_content": 100.0}
{"id": "MONDO:0012670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 63", "equivalent_identifiers": ["MONDO:0012670", "DOID:0110515", "OMIM:611451", "UMLS:C1969621", "MESH:C566951", "medgen:409872"], "information_content": 100.0}
{"id": "MONDO:0971150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity", "equivalent_identifiers": ["MONDO:0971150", "OMIM:620854", "UMLS:C5935630", "medgen:1856205"], "information_content": 100.0}
{"id": "HP:0009077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weakness of long finger extensor muscles", "equivalent_identifiers": ["HP:0009077", "UMLS:C4024601"], "information_content": 100.0}
{"id": "MONDO:0007335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 1", "equivalent_identifiers": ["MONDO:0007335", "DOID:0080395", "OMIM:119530", "UMLS:C1861537", "MESH:C566121", "NCIT:C124838", "medgen:349303"], "information_content": 100.0}
{"id": "MONDO:0032666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermodysplasia verruciformis, susceptibility to, 4", "equivalent_identifiers": ["MONDO:0032666", "DOID:0061094", "OMIM:618307", "UMLS:C4749042", "NCIT:C176608", "medgen:1648396"], "information_content": 100.0}
{"id": "MONDO:0006604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rosacea", "equivalent_identifiers": ["MONDO:0006604", "DOID:8881", "EFO:1000760", "UMLS:C0005874", "UMLS:C0035854", "UMLS:C0239488", "UMLS:C4020880", "UMLS:C5848177", "MESH:D001821", "MESH:D012393", "MEDDRA:10000514", "MEDDRA:10015212", "MEDDRA:10016046", "MEDDRA:10016823", "MEDDRA:10016826", "MEDDRA:10039218", "MEDDRA:10039219", "NCIT:C97136", "SNOMEDCT:20255002", "SNOMEDCT:271811009", "SNOMEDCT:398909004", "medgen:11269", "icd11.foundation:134161404", "ICD10:L71", "ICD9:695.3", "HP:0001041"], "information_content": 95.4}
{"id": "HP:0032215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disseminated cutaneous warts", "equivalent_identifiers": ["HP:0032215", "UMLS:C5139200"], "information_content": 100.0}
{"id": "HP:0031514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased proportion of exhausted T cells", "equivalent_identifiers": ["HP:0031514", "UMLS:C4531071"], "information_content": 100.0}
{"id": "MONDO:0023692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maple syrup urine disease type 1B", "equivalent_identifiers": ["MONDO:0023692", "OMIM:620698", "UMLS:C2930990", "MESH:C535711", "medgen:443951"], "information_content": 100.0}
{"id": "MONDO:0970995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 24", "equivalent_identifiers": ["MONDO:0970995", "OMIM:620840", "UMLS:C5935624", "medgen:1858807"], "information_content": 100.0}
{"id": "HP:0033085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced antral follicle count", "equivalent_identifiers": ["HP:0033085", "UMLS:C5421599"], "information_content": 100.0}
{"id": "MONDO:0011283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 1", "equivalent_identifiers": ["MONDO:0011283", "DOID:0080119", "OMIM:603041", "UMLS:C4551995", "NCIT:C11967", "medgen:1631838"], "information_content": 100.0}
{"id": "HP:0033842", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early satiety", "equivalent_identifiers": ["HP:0033842", "UMLS:C0239233", "MEDDRA:10059186", "SNOMEDCT:442076002"], "information_content": 100.0}
{"id": "HP:0003548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subsarcolemmal accumulations of abnormally shaped mitochondria", "equivalent_identifiers": ["HP:0003548", "UMLS:C4025597"], "information_content": 100.0}
{"id": "HP:0030143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperactive bowel sounds", "equivalent_identifiers": ["HP:0030143", "UMLS:C0232694", "MEDDRA:10048720", "MEDDRA:10048721", "SNOMEDCT:18101008"], "information_content": 100.0}
{"id": "HP:0012533", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Allodynia", "equivalent_identifiers": ["HP:0012533", "NCIT:C180616", "UMLS:C0458247", "MEDDRA:10053552", "SNOMEDCT:247404004"], "information_content": 100.0}
{"id": "HP:0034276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating thymidine concentration", "equivalent_identifiers": ["HP:0034276", "UMLS:C1864226"], "information_content": 100.0}
{"id": "HP:0034277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating deoxyuridine concentration", "equivalent_identifiers": ["HP:0034277", "UMLS:C5676844"], "information_content": 100.0}
{"id": "HP:6000570", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue thymidine phosphorylase activity", "equivalent_identifiers": ["HP:6000570", "UMLS:C5937332"], "information_content": 100.0}
{"id": "MONDO:0006807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal perforation", "equivalent_identifiers": ["MONDO:0006807", "DOID:2074", "EFO:1000987", "UMLS:C0021845", "MESH:D007416", "MEDDRA:10006056", "MEDDRA:10022694", "MEDDRA:10022696", "MEDDRA:10034385", "MEDDRA:10034406", "MEDDRA:10034413", "MEDDRA:10034421", "NCIT:C39611", "SNOMEDCT:56905009", "medgen:9525", "ICD9:569.83", "HP:0031368"], "information_content": 84.8}
{"id": "HP:0032155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal Cramp", "equivalent_identifiers": ["HP:0032155", "NCIT:C34331", "UMLS:C0000729", "MEDDRA:10000056", "MEDDRA:10000057", "MEDDRA:10000058", "MEDDRA:10011286", "MEDDRA:10018726", "MEDDRA:10018727"], "information_content": 95.4}
{"id": "MONDO:0009206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor V and factor VIII, combined deficiency of, type 1", "equivalent_identifiers": ["MONDO:0009206", "OMIM:227300", "UMLS:C0272342", "UMLS:C4551981", "MESH:C565577", "SNOMEDCT:84048006", "medgen:1637212"], "information_content": 100.0}
{"id": "MONDO:0010551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked recessive 3", "equivalent_identifiers": ["MONDO:0010551", "DOID:0110211", "OMIM:302802", "orphanet:101077", "UMLS:C1844865", "MESH:C535303", "SNOMEDCT:763458005", "medgen:375530"], "information_content": 100.0}
{"id": "MONDO:0013198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1EE", "equivalent_identifiers": ["MONDO:0013198", "DOID:0110453", "OMIM:613252", "UMLS:C2750466", "MESH:C567683", "medgen:412965"], "information_content": 100.0}
{"id": "MONDO:0014059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with coloboma 9", "equivalent_identifiers": ["MONDO:0014059", "OMIM:615145", "UMLS:C3554592", "UMLS:C5193017", "UMLS:C5193150", "medgen:767506"], "information_content": 100.0}
{"id": "MONDO:0007351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma of macula", "equivalent_identifiers": ["MONDO:0007351", "OMIM:120300", "orphanet:98945", "UMLS:C1852767", "MESH:C535968", "SNOMEDCT:737579002", "medgen:342305", "icd11.foundation:366058642", "HP:0001116"], "information_content": 100.0}
{"id": "MONDO:0030914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clark-Baraitser syndrome", "equivalent_identifiers": ["MONDO:0030914", "DOID:0080234", "OMIM:617752", "orphanet:600731", "UMLS:C2931130", "MESH:C536208", "SNOMEDCT:1300132009", "medgen:443983"], "information_content": 100.0}
{"id": "MONDO:0011855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granular corneal dystrophy type II", "equivalent_identifiers": ["MONDO:0011855", "DOID:0060444", "OMIM:607541", "orphanet:98963", "UMLS:C1275685", "MESH:C535474", "MEDDRA:10086105", "SNOMEDCT:397568004", "medgen:220900"], "information_content": 100.0}
{"id": "MONDO:0009732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital nephrotic syndrome, Finnish type", "equivalent_identifiers": ["MONDO:0009732", "DOID:0080390", "OMIM:256300", "orphanet:839", "UMLS:C0403399", "MEDDRA:10060740", "NCIT:C122795", "SNOMEDCT:197601003", "medgen:98011"], "information_content": 100.0}
{"id": "MONDO:0002350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial nephrotic syndrome", "equivalent_identifiers": ["MONDO:0002350", "DOID:2590", "OMIM.PS:256300", "UMLS:C3501848", "MESH:C535761", "MEDDRA:10060737", "MEDDRA:10060741", "NCIT:C35337", "SNOMEDCT:48796009", "medgen:502251", "icd11.foundation:1524476844", "HP:0008677"], "information_content": 76.5}
{"id": "MONDO:0700245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolytic hyperkeratosis 2B, autosomal recessive", "equivalent_identifiers": ["MONDO:0700245", "OMIM:620707", "UMLS:C5882753", "medgen:1845041"], "information_content": 100.0}
{"id": "HP:0005595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hyperkeratosis", "equivalent_identifiers": ["HP:0005595", "UMLS:C1969913"], "information_content": 100.0}
{"id": "HP:0031288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cobblestone-like hyperkeratosis", "equivalent_identifiers": ["HP:0031288", "UMLS:C4531224"], "information_content": 100.0}
{"id": "HP:0034703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keratinocyte vacuolization", "equivalent_identifiers": ["HP:0034703", "UMLS:C4230513"], "information_content": 100.0}
{"id": "MONDO:0032663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 70", "equivalent_identifiers": ["MONDO:0032663", "DOID:0112206", "OMIM:618298", "UMLS:C4749023", "medgen:1648407"], "information_content": 100.0}
{"id": "MONDO:0018931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucolipidosis type III, alpha/beta", "equivalent_identifiers": ["MONDO:0018931", "DOID:0080071", "OMIM:252600", "orphanet:423461", "orphanet:577", "UMLS:C0033788", "UMLS:C2673375", "MESH:C567099", "MEDDRA:10072929", "SNOMEDCT:65764006", "medgen:10988"], "information_content": 100.0}
{"id": "HP:0000484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperopic astigmatism", "equivalent_identifiers": ["HP:0000484", "UMLS:C1847524", "MEDDRA:10069446", "SNOMEDCT:449734001"], "information_content": 100.0}
{"id": "HP:0003320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C1-C2 subluxation", "equivalent_identifiers": ["HP:0003320", "UMLS:C1848446"], "information_content": 100.0}
{"id": "MONDO:0007275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carpal tunnel syndrome", "equivalent_identifiers": ["MONDO:0007275", "DOID:12169", "OMIM.PS:115430", "EFO:0004143", "UMLS:C0007286", "UMLS:C4023009", "MESH:D002349", "MEDDRA:10007697", "NCIT:C34450", "SNOMEDCT:57406009", "medgen:2856", "icd11.foundation:1275186848", "ICD10:G56.0", "ICD9:354.0", "HP:0012185"], "information_content": 92.8}
{"id": "HP:0002680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "J-shaped sella turcica", "equivalent_identifiers": ["HP:0002680", "UMLS:C1854718", "UMLS:C4072841", "UMLS:C4072842"], "information_content": 100.0}
{"id": "HP:0008439", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar hemivertebrae", "equivalent_identifiers": ["HP:0008439", "UMLS:C0432149", "SNOMEDCT:93167001"], "information_content": 100.0}
{"id": "MONDO:0009650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mucolipidosis 2", "equivalent_identifiers": ["MONDO:0009650", "DOID:0080070", "OMIM:252500", "orphanet:576", "UMLS:C0020725", "UMLS:C2673377", "UMLS:C2931894", "MESH:C538602", "MESH:C567100", "MEDDRA:10072928", "NCIT:C61270", "SNOMEDCT:70199000", "medgen:435914", "HP:0003264"], "information_content": 100.0}
{"id": "HP:0003182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shallow acetabular fossae", "equivalent_identifiers": ["HP:0003182", "UMLS:C1854910", "UMLS:C1860796"], "information_content": 100.0}
{"id": "HP:0006162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Soft tissue swelling of interphalangeal joints", "equivalent_identifiers": ["HP:0006162", "UMLS:C1854913"], "information_content": 100.0}
{"id": "MONDO:0010667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prieto syndrome", "equivalent_identifiers": ["MONDO:0010667", "DOID:0060805", "OMIM:309610", "orphanet:2958", "UMLS:C1839730", "UMLS:C4304934", "MESH:C535274", "SNOMEDCT:719140001", "medgen:374294"], "information_content": 100.0}
{"id": "MONDO:0008065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasal groove, familial transverse", "equivalent_identifiers": ["MONDO:0008065", "OMIM:161500", "UMLS:C1834370", "medgen:322400"], "information_content": 100.0}
{"id": "OMIM:615970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF", "equivalent_identifiers": ["OMIM:615970", "UMLS:C1863080", "SNOMEDCT:716697002"]}
{"id": "MONDO:0008128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia, familial static", "equivalent_identifiers": ["MONDO:0008128", "OMIM:165000", "UMLS:C1833839", "MESH:C563500", "medgen:371666"], "information_content": 100.0}
{"id": "MONDO:0007492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset generalized limb-onset dystonia", "equivalent_identifiers": ["MONDO:0007492", "DOID:0060730", "OMIM:128100", "orphanet:256", "UMLS:C1851945", "UMLS:C3888090", "MESH:C538005", "MEDDRA:10076668", "NCIT:C116718", "NCIT:C118780", "medgen:338823"], "information_content": 92.8}
{"id": "HP:0002828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple joint contractures", "equivalent_identifiers": ["HP:0002828", "UMLS:C0158118", "SNOMEDCT:19393004", "SNOMEDCT:202264009"], "information_content": 100.0}
{"id": "MONDO:0859298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly", "equivalent_identifiers": ["MONDO:0859298", "OMIM:620075", "UMLS:C5774232", "medgen:1824005"], "information_content": 100.0}
{"id": "HP:0012104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parietal cortical atrophy", "equivalent_identifiers": ["HP:0012104", "UMLS:C4023041"], "information_content": 100.0}
{"id": "MONDO:0013058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic leukoencephalopathy without megalencephaly", "equivalent_identifiers": ["MONDO:0013058", "DOID:0081007", "OMIM:612951", "orphanet:85136", "UMLS:C2751843", "MESH:C567845", "SNOMEDCT:720825005", "medgen:416646", "icd11.foundation:1081165012"], "information_content": 100.0}
{"id": "HP:0000295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Doll-like facies", "equivalent_identifiers": ["HP:0000295", "UMLS:C1856361"], "information_content": 100.0}
{"id": "MONDO:0009860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phenformin 4-hydroxylation", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009860", "OMIM:261590", "UMLS:C1849927", "medgen:342365"], "information_content": 100.0}
{"id": "MONDO:0013010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 71", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013010", "DOID:0110522", "OMIM:612789", "UMLS:C2748554", "MESH:C567562", "medgen:411609"], "information_content": 100.0}
{"id": "MONDO:0020631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 92", "equivalent_identifiers": ["MONDO:0020631", "DOID:0080471", "OMIM:617829", "UMLS:C4693362", "medgen:1638319"], "information_content": 100.0}
{"id": "MONDO:0008048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant centronuclear myopathy", "equivalent_identifiers": ["MONDO:0008048", "DOID:0111217", "DOID:0111223", "OMIM:160150", "orphanet:169189", "UMLS:C1834558", "UMLS:C4551952", "NCIT:C126689", "SNOMEDCT:716696006", "medgen:1645741", "ICD10:G71.228"], "information_content": 100.0}
{"id": "HP:0005335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleepy facial expression", "equivalent_identifiers": ["HP:0005335", "UMLS:C4025214"], "information_content": 100.0}
{"id": "HP:0008948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal upper limb amyotrophy", "equivalent_identifiers": ["HP:0008948", "UMLS:C1866013"], "information_content": 100.0}
{"id": "HP:0030007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: positive sharp waves", "equivalent_identifiers": ["HP:0030007", "UMLS:C0429349", "SNOMEDCT:251527008"], "information_content": 100.0}
{"id": "MONDO:0030719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 82", "equivalent_identifiers": ["MONDO:0030719", "DOID:0070603", "OMIM:619804", "UMLS:C5676948", "medgen:1803416"], "information_content": 100.0}
{"id": "MONDO:0009501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metabolic myopathy due to lactate transporter defect", "equivalent_identifiers": ["MONDO:0009501", "OMIM:245340", "orphanet:171690", "UMLS:C1855577", "MESH:C565449", "SNOMEDCT:766715000", "medgen:344529"], "information_content": 100.0}
{"id": "HP:0009020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced muscle fatigue", "equivalent_identifiers": ["HP:0009020", "UMLS:C1855580"], "information_content": 100.0}
{"id": "HP:0003457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG abnormality", "equivalent_identifiers": ["HP:0003457", "UMLS:C0476403", "MEDDRA:10000131", "MEDDRA:10014431", "MEDDRA:10014545", "MEDDRA:10029672", "SNOMEDCT:274523007"], "information_content": 80.9}
{"id": "MONDO:0007513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia with adrenal cyst", "equivalent_identifiers": ["MONDO:0007513", "OMIM:129550", "UMLS:C1851850", "MESH:C538015", "medgen:342106"], "information_content": 100.0}
{"id": "HP:0003187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Breast hypoplasia", "equivalent_identifiers": ["HP:0003187", "NCIT:C78222", "UMLS:C0266013", "MEDDRA:10049070", "MEDDRA:10049089", "SNOMEDCT:8915006"], "information_content": 90.9}
{"id": "MONDO:0014571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 9", "equivalent_identifiers": ["MONDO:0014571", "DOID:0111442", "OMIM:616289", "UMLS:C4225384", "medgen:898858"], "information_content": 100.0}
{"id": "MONDO:0014345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 69", "equivalent_identifiers": ["MONDO:0014345", "DOID:0110410", "OMIM:615780", "UMLS:C4014312", "medgen:862749"], "information_content": 100.0}
{"id": "HP:0034272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perifoveal hypoautofluorescence", "equivalent_identifiers": ["HP:0034272", "UMLS:C5676842"], "information_content": 100.0}
{"id": "MONDO:0700249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolytic hyperkeratosis 1", "equivalent_identifiers": ["MONDO:0700249", "DOID:0081358", "OMIM:113800", "UMLS:C5781874", "medgen:1826137"], "information_content": 100.0}
{"id": "MONDO:0011493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome type 2", "equivalent_identifiers": ["MONDO:0011493", "DOID:0080675", "OMIM:604841", "orphanet:90654", "UMLS:C1858084", "MESH:C537493", "NCIT:C74985", "SNOMEDCT:1010664005", "medgen:347615", "icd11.foundation:1652024415"], "information_content": 100.0}
{"id": "HP:6000015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tympanic membrane hypermobility", "equivalent_identifiers": ["HP:6000015", "UMLS:C0584788", "SNOMEDCT:306916006"], "information_content": 100.0}
{"id": "HP:0007964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Degenerative vitreoretinopathy", "equivalent_identifiers": ["HP:0007964", "UMLS:C1843486"], "information_content": 100.0}
{"id": "HP:0034770", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar hypolordosis", "equivalent_identifiers": ["HP:0034770", "UMLS:C5826651"], "information_content": 100.0}
{"id": "HP:0004327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vitreous humor morphology", "equivalent_identifiers": ["HP:0004327", "UMLS:C4025356"], "information_content": 71.0}
{"id": "MONDO:0010191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "von Willebrand disease 3", "equivalent_identifiers": ["MONDO:0010191", "DOID:0111054", "OMIM:277480", "orphanet:166096", "UMLS:C1264041", "MESH:D056729", "NCIT:C85213", "SNOMEDCT:128108002", "medgen:266075", "ICD10:D68.03"], "information_content": 100.0}
{"id": "HP:0008330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced von Willebrand factor activity", "equivalent_identifiers": ["HP:0008330", "UMLS:C4024701", "MEDDRA:10068986"], "information_content": 100.0}
{"id": "MONDO:0014958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Harel-Yoon syndrome", "equivalent_identifiers": ["MONDO:0014958", "DOID:0081395", "OMIM:617183", "orphanet:496790", "UMLS:C4310677", "SNOMEDCT:1172586007", "medgen:934644"], "information_content": 100.0}
{"id": "HP:0001772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talipes equinovalgus", "equivalent_identifiers": ["HP:0001772", "UMLS:C0265642", "UMLS:C4020866", "SNOMEDCT:68284008"], "information_content": 100.0}
{"id": "MONDO:0009664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mulibrey nanism", "equivalent_identifiers": ["MONDO:0009664", "DOID:0050436", "OMIM:253250", "orphanet:2576", "UMLS:C0524582", "MESH:D050336", "NCIT:C84906", "SNOMEDCT:81604003", "medgen:99347", "icd11.foundation:1167260635"], "information_content": 100.0}
{"id": "HP:0005132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pericardial constriction", "equivalent_identifiers": ["HP:0005132", "NCIT:C191934", "UMLS:C0240709"], "information_content": 92.8}
{"id": "MONDO:0030724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 84", "equivalent_identifiers": ["MONDO:0030724", "DOID:0070604", "OMIM:619810", "UMLS:C5676952", "medgen:1801352"], "information_content": 100.0}
{"id": "MONDO:0024551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency", "equivalent_identifiers": ["MONDO:0024551", "OMIM:308240", "orphanet:538931", "UMLS:C5399825", "NCIT:C170434", "SNOMEDCT:1162828001", "medgen:1770239"], "information_content": 100.0}
{"id": "MONDO:0001342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysgammaglobulinemia", "equivalent_identifiers": ["MONDO:0001342", "DOID:11702", "UMLS:C0013374", "MESH:D004406", "SNOMEDCT:123782009", "medgen:41679", "HP:0002961"], "information_content": 85.5}
{"id": "MONDO:0001711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic encephalopathy", "equivalent_identifiers": ["MONDO:0001711", "DOID:13413", "UMLS:C0019151", "MESH:D006501", "MEDDRA:10014630", "MEDDRA:10019660", "NCIT:C79596", "SNOMEDCT:13920009", "SNOMEDCT:449902003", "medgen:5513", "icd11.foundation:1769383160", "ICD10:K76.82", "ICD9:572.2", "HP:0002480"], "information_content": 95.4}
{"id": "HP:0012177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal natural killer cell physiology", "equivalent_identifiers": ["HP:0012177", "UMLS:C4023012"], "information_content": 84.2}
{"id": "HP:0031693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe Epstein Barr virus infection", "equivalent_identifiers": ["HP:0031693", "UMLS:C4703482"], "information_content": 100.0}
{"id": "HP:0100776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent pharyngitis", "equivalent_identifiers": ["HP:0100776", "UMLS:C0747556"], "information_content": 100.0}
{"id": "MONDO:0031061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, IIa 26", "equivalent_identifiers": ["MONDO:0031061", "OMIM:620049", "UMLS:C5774221", "medgen:1823994"], "information_content": 100.0}
{"id": "MONDO:0013003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated congenital hypoglossia/aglossia", "equivalent_identifiers": ["MONDO:0013003", "OMIM:612776", "orphanet:141152", "UMLS:C2748587", "UMLS:C2748588", "MESH:C567567", "MESH:C567568", "medgen:411249"], "information_content": 92.8}
{"id": "MONDO:0013681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-methylacyl-CoA racemase deficiency", "equivalent_identifiers": ["MONDO:0013681", "DOID:0060602", "OMIM:614307", "EFO:1001980", "UMLS:C3280428", "MESH:C565768", "NCIT:C119677", "SNOMEDCT:700463002", "medgen:482058"], "information_content": 95.4}
{"id": "HP:6000134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000134", "UMLS:C5936988"], "information_content": 100.0}
{"id": "HP:0033643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating very long-chain fatty acid concentration", "equivalent_identifiers": ["HP:0033643", "UMLS:C5539740"], "information_content": 95.4}
{"id": "HP:0034449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased phytanic acid:pristanic acid ratio", "equivalent_identifiers": ["HP:0034449", "UMLS:C5826402"], "information_content": 100.0}
{"id": "MONDO:0009950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate kinase deficiency of red cells", "equivalent_identifiers": ["MONDO:0009950", "DOID:0111077", "OMIM:266200", "orphanet:766", "UMLS:C0340968", "MESH:C564858", "NCIT:C99037", "SNOMEDCT:124331002", "medgen:473069"], "information_content": 100.0}
{"id": "HP:0020181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced haptoglobin level", "equivalent_identifiers": ["HP:0020181", "UMLS:C5209264"], "information_content": 100.0}
{"id": "HP:0020062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased hemoglobin concentration", "equivalent_identifiers": ["HP:0020062", "UMLS:C4732750"], "information_content": 100.0}
{"id": "HP:0025109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced red cell pyruvate kinase level", "equivalent_identifiers": ["HP:0025109", "UMLS:C4476595"], "information_content": 100.0}
{"id": "MONDO:0800028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyskinesia with orofacial involvement, autosomal dominant", "equivalent_identifiers": ["MONDO:0800028", "OMIM:606703", "orphanet:324588", "UMLS:C1847627", "UMLS:C5551343", "MESH:C564676", "SNOMEDCT:763352005", "medgen:1790407"], "information_content": 100.0}
{"id": "MONDO:0014562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome", "equivalent_identifiers": ["MONDO:0014562", "DOID:0070244", "OMIM:616276", "orphanet:457185", "UMLS:C5568562", "SNOMEDCT:1186718008", "medgen:1799985"], "information_content": 100.0}
{"id": "HP:0032278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-hydroxyglutarate aciduria", "equivalent_identifiers": ["HP:0032278", "UMLS:C5139239"], "information_content": 92.8}
{"id": "HP:0001063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrocyanosis", "equivalent_identifiers": ["HP:0001063", "NCIT:C98807", "UMLS:C0221347", "MEDDRA:10000592", "SNOMEDCT:25003006"], "information_content": 95.4}
{"id": "MONDO:0002679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral infarction", "equivalent_identifiers": ["MONDO:0002679", "DOID:3526", "OMIM:601367", "UMLS:C0007785", "MESH:D002544", "MEDDRA:10008117", "MEDDRA:10008118", "MEDDRA:10021755", "NCIT:C50486", "SNOMEDCT:432504007", "medgen:3321", "ICD10:I63", "HP:0025722"], "information_content": 89.4}
{"id": "MONDO:0030869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 50", "equivalent_identifiers": ["MONDO:0030869", "DOID:0112272", "OMIM:619145", "UMLS:C5436888", "medgen:1747507"], "information_content": 100.0}
{"id": "MONDO:0014950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 10", "equivalent_identifiers": ["MONDO:0014950", "OMIM:617168", "UMLS:C4284414", "medgen:924785"], "information_content": 100.0}
{"id": "HP:0005113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortic arch aneurysm", "equivalent_identifiers": ["HP:0005113", "UMLS:C0856748", "UMLS:C1851119", "MEDDRA:10002341", "MEDDRA:10002342", "SNOMEDCT:712578006", "MESH:D000094626"], "information_content": 92.8}
{"id": "MONDO:0005396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracic aortic aneurysm", "equivalent_identifiers": ["MONDO:0005396", "DOID:14004", "EFO:0004282", "UMLS:C0162872", "UMLS:C4303697", "MESH:D017545", "MEDDRA:10043465", "NCIT:C27001", "SNOMEDCT:142111000119108", "SNOMEDCT:433068007", "medgen:56525", "icd11.foundation:1383534118", "HP:0012727"], "information_content": 84.2}
{"id": "HP:0031643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusiform ascending tubular aorta aneurysm", "equivalent_identifiers": ["HP:0031643", "UMLS:C4703458"], "information_content": 100.0}
{"id": "MONDO:0009880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-pituitary and cerebellar defects-small sella turcica syndrome", "equivalent_identifiers": ["MONDO:0009880", "DOID:0061017", "OMIM:262700", "orphanet:85442", "UMLS:C2678408", "MESH:C567492", "medgen:394816"], "information_content": 100.0}
{"id": "HP:0010538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small sella turcica", "equivalent_identifiers": ["HP:0010538", "UMLS:C4023794", "UMLS:C4072875", "UMLS:C4072876"], "information_content": 100.0}
{"id": "HP:0008850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe postnatal growth retardation", "equivalent_identifiers": ["HP:0008850", "UMLS:C1857641"], "information_content": 100.0}
{"id": "HP:0031079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired growth-hormone response to insulin stimulation test", "equivalent_identifiers": ["HP:0031079", "UMLS:C4476958"], "information_content": 100.0}
{"id": "HP:0003799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marked delay in bone age", "equivalent_identifiers": ["HP:0003799", "UMLS:C1868549"], "information_content": 100.0}
{"id": "MONDO:0013770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 9", "equivalent_identifiers": ["MONDO:0013770", "DOID:0110114", "OMIM:614475", "UMLS:C3280943", "medgen:482573"], "information_content": 100.0}
{"id": "MONDO:0007075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alacrima, congenital, autosomal dominant", "equivalent_identifiers": ["MONDO:0007075", "OMIM:103420", "UMLS:C1863199", "UMLS:C4310836", "MESH:C566307", "medgen:934803"], "information_content": 100.0}
{"id": "HP:0000584", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate corneal epithelial erosions", "equivalent_identifiers": ["HP:0000584", "UMLS:C1832170"], "information_content": 100.0}
{"id": "HP:0007820", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacrimal punctal atresia", "equivalent_identifiers": ["HP:0007820", "UMLS:C1863201"], "information_content": 100.0}
{"id": "MONDO:0012775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 4", "equivalent_identifiers": ["MONDO:0012775", "OMIM:612004", "UMLS:C2677608", "MESH:C567438", "medgen:394329"], "information_content": 100.0}
{"id": "HP:0011876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal platelet volume", "equivalent_identifiers": ["HP:0011876", "UMLS:C4023152"], "information_content": 85.5}
{"id": "MONDO:0011633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2C", "equivalent_identifiers": ["MONDO:0011633", "DOID:0110182", "OMIM:606071", "orphanet:99937", "UMLS:C1853710", "MESH:C565261", "SNOMEDCT:717010007", "medgen:342947"], "information_content": 100.0}
{"id": "MONDO:0001309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculomotor nerve paralysis", "equivalent_identifiers": ["MONDO:0001309", "DOID:11550", "orphanet:98685", "UMLS:C0028866", "UMLS:C1442863", "UMLS:C1455809", "MEDDRA:10011315", "MEDDRA:10011316", "MEDDRA:10021282", "MEDDRA:10021283", "MEDDRA:10030074", "MEDDRA:10030076", "MEDDRA:10043444", "MEDDRA:10052885", "MEDDRA:10054202", "NCIT:C27597", "SNOMEDCT:388980004", "medgen:14459", "ICD10:H49.0", "HP:0012246"], "information_content": 78.5}
{"id": "HP:0007230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased distal sensory nerve action potential", "equivalent_identifiers": ["HP:0007230", "UMLS:C4024920"], "information_content": 100.0}
{"id": "MONDO:0004948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B-cell chronic lymphocytic leukemia", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0004948", "DOID:1040", "OMIM:151400", "orphanet:67038", "EFO:0000095", "UMLS:C0023434", "UMLS:C0855095", "MESH:D015451", "MEDDRA:10003908", "MEDDRA:10003909", "MEDDRA:10003910", "MEDDRA:10008956", "MEDDRA:10008957", "MEDDRA:10008958", "MEDDRA:10008960", "MEDDRA:10008976", "MEDDRA:10008993", "MEDDRA:10009310", "MEDDRA:10024295", "MEDDRA:10024340", "MEDDRA:10025302", "MEDDRA:10025306", "MEDDRA:10041138", "MEDDRA:10051812", "MEDDRA:10060391", "MEDDRA:10060576", "MEDDRA:10068852", "MEDDRA:10068919", "NCIT:C3163", "NCIT:C7540", "SNOMEDCT:277473004", "SNOMEDCT:302841002", "SNOMEDCT:51092000", "SNOMEDCT:64575004", "SNOMEDCT:92814006", "medgen:44120", "ICD10:C91.10", "ICD9:204.1", "HP:0005550"], "information_content": 72.1}
{"id": "HP:0005374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cellular immunodeficiency", "equivalent_identifiers": ["HP:0005374", "UMLS:C1855204"], "information_content": 95.4}
{"id": "MONDO:0007475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal ulcer, hyperpepsinogenemic 1", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007475", "OMIM:126850", "UMLS:C1852008", "MESH:C565086", "medgen:343701"], "information_content": 100.0}
{"id": "MONDO:0030894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AMED syndrome", "equivalent_identifiers": ["MONDO:0030894", "DOID:0080952", "OMIM:619151", "orphanet:611216", "UMLS:C5436906", "NCIT:C185246", "SNOMEDCT:1332385000", "medgen:1754257"], "information_content": 100.0}
{"id": "MONDO:0032800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "robinow syndrome, autosomal recessive 2", "equivalent_identifiers": ["MONDO:0032800", "DOID:0060974", "OMIM:618529", "UMLS:C5193143", "medgen:1676687"], "information_content": 100.0}
{"id": "HP:0010292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent uvula", "equivalent_identifiers": ["HP:0010292", "UMLS:C0266121", "MEDDRA:10053506", "SNOMEDCT:25148007"], "information_content": 100.0}
{"id": "HP:0002933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventral hernia", "equivalent_identifiers": ["HP:0002933", "EFO:1001866", "NCIT:C118313", "UMLS:C0019326", "MEDDRA:10047272", "SNOMEDCT:414396006", "MESH:D006555"], "information_content": 100.0}
{"id": "MONDO:0030486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 32", "equivalent_identifiers": ["MONDO:0030486", "DOID:0060939", "OMIM:619637", "UMLS:C5562029", "medgen:1794239"], "information_content": 100.0}
{"id": "HP:0012753", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T2 hypointense basal ganglia", "equivalent_identifiers": ["HP:0012753", "UMLS:C4022743"], "information_content": 100.0}
{"id": "MONDO:0007304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical vertebral Bridge", "equivalent_identifiers": ["MONDO:0007304", "OMIM:118000", "UMLS:C1861694", "medgen:348426"], "information_content": 100.0}
{"id": "MONDO:0015912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "equivalent_identifiers": ["MONDO:0015912", "DOID:0060651", "OMIM:155100", "orphanet:182050", "EFO:0009646", "UMLS:C0340978", "UMLS:C0398641", "UMLS:C0403445", "UMLS:C1834478", "UMLS:C1842035", "UMLS:C5200934", "MESH:C535507", "MESH:C537831", "MESH:C564237", "MEDDRA:10065451", "MEDDRA:10079437", "NCIT:C131639", "NCIT:C131642", "NCIT:C131646", "NCIT:C158788", "SNOMEDCT:234484005", "SNOMEDCT:234485006", "SNOMEDCT:236422008", "SNOMEDCT:712922002", "medgen:1704278", "ICD10:D69.4"], "information_content": 89.4}
{"id": "HP:0040235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leukocyte inclusion bodies", "equivalent_identifiers": ["HP:0040235", "UMLS:C4280711"], "information_content": 100.0}
{"id": "HP:0008264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neutrophil inclusion bodies", "equivalent_identifiers": ["HP:0008264", "UMLS:C4021547"], "information_content": 95.4}
{"id": "MONDO:0009402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofrontofacionasal dysostosis 2", "equivalent_identifiers": ["MONDO:0009402", "OMIM:239710", "orphanet:2211", "UMLS:C1855904", "MESH:C538332", "SNOMEDCT:721835008", "medgen:383797"], "information_content": 100.0}
{"id": "MONDO:0032788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar atrophy with seizures and variable developmental delay", "equivalent_identifiers": ["MONDO:0032788", "OMIM:618501", "UMLS:C5193132", "medgen:1683734"], "information_content": 100.0}
{"id": "MONDO:0010434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synovial sarcoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0010434", "DOID:5485", "OMIM:300813", "orphanet:3273", "EFO:0001376", "UMLS:C0039101", "MESH:D013584", "MEDDRA:10042863", "MEDDRA:10042866", "MEDDRA:10069062", "NCIT:C3400", "SNOMEDCT:302851001", "SNOMEDCT:63211008", "medgen:21050", "HP:0012570"], "information_content": 75.7}
{"id": "MONDO:0014012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2Q", "equivalent_identifiers": ["MONDO:0014012", "DOID:0110170", "OMIM:615025", "orphanet:329258", "UMLS:C3554366", "SNOMEDCT:773393001", "medgen:767280"], "information_content": 100.0}
{"id": "MONDO:0100040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FOXG1 disorder", "equivalent_identifiers": ["MONDO:0100040", "OMIM:613454", "orphanet:561854", "orphanet:598164", "UMLS:C3150705", "NCIT:C176903", "SNOMEDCT:702450004"], "information_content": 100.0}
{"id": "HP:0030215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inappropriate crying", "equivalent_identifiers": ["HP:0030215", "UMLS:C0860609", "MEDDRA:10021589"], "information_content": 100.0}
{"id": "HP:0007333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the frontal lobes", "equivalent_identifiers": ["HP:0007333", "UMLS:C1849172"], "information_content": 100.0}
{"id": "MONDO:0009385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperleucine-Isoleucinemia", "equivalent_identifiers": ["MONDO:0009385", "OMIM:238340", "UMLS:C0268574", "MESH:C562674", "SNOMEDCT:7046009", "medgen:82821"], "information_content": 100.0}
{"id": "MONDO:0009203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal facial dermal dysplasia type III", "equivalent_identifiers": ["MONDO:0009203", "OMIM:227260", "orphanet:1807", "UMLS:C1744559", "SNOMEDCT:403771007", "medgen:315643"], "information_content": 95.4}
{"id": "HP:0008509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aged leonine appearance", "equivalent_identifiers": ["HP:0008509", "UMLS:C3550331"], "information_content": 100.0}
{"id": "HP:0007646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent lower eyelashes", "equivalent_identifiers": ["HP:0007646", "UMLS:C4024824"], "information_content": 100.0}
{"id": "MONDO:0030928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 26, primary, autosomal dominant", "equivalent_identifiers": ["MONDO:0030928", "OMIM:619179", "UMLS:C5543048", "medgen:1779629"], "information_content": 100.0}
{"id": "MONDO:0032644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermodysplasia verruciformis, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0032644", "OMIM:618267", "UMLS:C4748876", "medgen:1648390"], "information_content": 100.0}
{"id": "HP:0010610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar pits", "equivalent_identifiers": ["HP:0010610", "UMLS:C0423776", "SNOMEDCT:247449001"], "information_content": 100.0}
{"id": "MONDO:0010146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kerion celsi", "equivalent_identifiers": ["MONDO:0010146", "OMIM:275240", "orphanet:499", "UMLS:C0276742", "MEDDRA:10023375", "SNOMEDCT:19087001", "medgen:124446", "icd11.foundation:1449494917", "HP:6000424"], "information_content": 100.0}
{"id": "MONDO:0032648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations", "equivalent_identifiers": ["MONDO:0032648", "DOID:0111403", "OMIM:618273", "UMLS:C4748927", "medgen:1648439"], "information_content": 100.0}
{"id": "MONDO:0014936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ZTTK syndrome", "equivalent_identifiers": ["MONDO:0014936", "DOID:0060953", "OMIM:617140", "orphanet:500150", "UMLS:C4310696", "MEDDRA:10081208", "SNOMEDCT:1169355000", "medgen:934663"], "information_content": 100.0}
{"id": "HP:0030707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral lung agenesis", "equivalent_identifiers": ["HP:0030707", "UMLS:C4082952"], "information_content": 100.0}
{"id": "MONDO:0014016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 49", "equivalent_identifiers": ["MONDO:0014016", "DOID:0110801", "OMIM:615031", "orphanet:320385", "UMLS:C3542549", "medgen:762260"], "information_content": 100.0}
{"id": "MONDO:0012419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 7", "equivalent_identifiers": ["MONDO:0012419", "DOID:0110019", "OMIM:610149", "UMLS:C1857813", "UMLS:C1857814", "UMLS:C1857815", "MESH:C565718", "medgen:347554"], "information_content": 100.0}
{"id": "MONDO:0033493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibromatosis, gingival, 5", "equivalent_identifiers": ["MONDO:0033493", "DOID:0080280", "OMIM:617626", "UMLS:C4539942", "medgen:1624392"], "information_content": 100.0}
{"id": "MONDO:0014683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "equivalent_identifiers": ["MONDO:0014683", "DOID:0111232", "OMIM:616538", "UMLS:C4225291", "medgen:902513"], "information_content": 100.0}
{"id": "MONDO:0009462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inosine phosphorylase deficiency, immune defect due to", "equivalent_identifiers": ["MONDO:0009462", "OMIM:243080", "UMLS:C1855737", "MESH:C565465", "medgen:344562"], "information_content": 100.0}
{"id": "MONDO:0010432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia, X-linked, due to factor 9 defect", "equivalent_identifiers": ["MONDO:0010432", "DOID:0111899", "OMIM:300807", "UMLS:C2749016", "UMLS:C3275410", "MESH:C567581", "medgen:411730"], "information_content": 100.0}
{"id": "HP:0033061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased factor IX activity", "equivalent_identifiers": ["HP:0033061", "UMLS:C5421578"], "information_content": 100.0}
{"id": "MONDO:0044792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "large congenital melanocytic nevus", "equivalent_identifiers": ["MONDO:0044792", "DOID:0111359", "OMIM:137550", "orphanet:626", "UMLS:C1318558", "UMLS:C1842036", "MESH:C536819", "MEDDRA:10072036", "MEDDRA:10072037", "NCIT:C3944", "NCIT:C4234", "SNOMEDCT:10291008", "SNOMEDCT:1260467009", "SNOMEDCT:254815002", "SNOMEDCT:398696001", "SNOMEDCT:398943008", "SNOMEDCT:400151006", "medgen:330752", "icd11.foundation:618273329", "HP:0005600"], "information_content": 85.5}
{"id": "HP:0025510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevus spilus", "equivalent_identifiers": ["HP:0025510", "NCIT:C204482", "NCIT:C4498", "UMLS:C0346099", "UMLS:C5886816", "MEDDRA:10087517", "MEDDRA:10087537", "SNOMEDCT:398660000", "SNOMEDCT:733523000"], "information_content": 100.0}
{"id": "MONDO:0005012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin melanoma", "equivalent_identifiers": ["MONDO:0005012", "DOID:10041", "DOID:8923", "OMIM:155600", "EFO:0000389", "EFO:0004199", "UMLS:C0013403", "UMLS:C0151779", "UMLS:C0153535", "UMLS:C0153536", "UMLS:C0205747", "UMLS:C1835047", "UMLS:C2314896", "MESH:D000096142", "MESH:D004416", "MEDDRA:10003931", "MEDDRA:10013960", "MEDDRA:10013962", "MEDDRA:10025655", "MEDDRA:10025665", "MEDDRA:10027152", "MEDDRA:10027155", "MEDDRA:10040891", "MEDDRA:10069425", "MEDDRA:10069426", "MEDDRA:10088049", "NCIT:C27264", "NCIT:C3510", "NCIT:C7584", "SNOMEDCT:254819008", "SNOMEDCT:93641007", "SNOMEDCT:93653006", "SNOMEDCT:93655004", "medgen:57486", "ICD10:C43.9", "ICD9:172.9", "HP:0012056"], "information_content": 68.1}
{"id": "MONDO:0007707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangiomas of small intestine", "equivalent_identifiers": ["MONDO:0007707", "OMIM:140900", "UMLS:C1841654", "MESH:C564201", "medgen:331098"], "information_content": 100.0}
{"id": "MONDO:0012214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid deficiency 3", "equivalent_identifiers": ["MONDO:0012214", "OMIM:609197", "UMLS:C1836621", "MESH:C563776", "NCIT:C131451", "medgen:332252"], "information_content": 100.0}
{"id": "HP:0040084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating renin concentration", "equivalent_identifiers": ["HP:0040084", "UMLS:C4021038"], "information_content": 81.7}
{"id": "MONDO:0013944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation", "equivalent_identifiers": ["MONDO:0013944", "DOID:0070615", "OMIM:614878", "orphanet:324530", "UMLS:C3553961", "SNOMEDCT:778004006", "medgen:766875"], "information_content": 100.0}
{"id": "HP:0002958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Immune dysregulation", "equivalent_identifiers": ["HP:0002958", "UMLS:C1844666"], "information_content": 100.0}
{"id": "MONDO:0010326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 46", "equivalent_identifiers": ["MONDO:0010326", "DOID:0112055", "OMIM:300436", "UMLS:C1845526", "MESH:C564513", "medgen:337255"], "information_content": 100.0}
{"id": "MONDO:0030064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia, type 9", "equivalent_identifiers": ["MONDO:0030064", "DOID:0060965", "OMIM:618924", "UMLS:C5394520", "medgen:1714171"], "information_content": 100.0}
{"id": "HP:0010532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal vertigo", "equivalent_identifiers": ["HP:0010532", "UMLS:C0522357", "SNOMEDCT:103290003"], "information_content": 100.0}
{"id": "MONDO:0859522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 81", "equivalent_identifiers": ["MONDO:0859522", "DOID:0070580", "OMIM:620277", "UMLS:C5830329", "medgen:1840965"], "information_content": 100.0}
{"id": "HP:0006321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple non-erupting secondary teeth", "equivalent_identifiers": ["HP:0006321", "UMLS:C1848904"], "information_content": 100.0}
{"id": "HP:0034913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrosomal hypoplasia", "equivalent_identifiers": ["HP:0034913", "UMLS:C5826763"], "information_content": 100.0}
{"id": "MONDO:0010318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FG syndrome 4", "equivalent_identifiers": ["MONDO:0010318", "OMIM:300422", "UMLS:C1845546", "UMLS:C3275356", "medgen:336965"], "information_content": 100.0}
{"id": "MONDO:0013471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 61", "equivalent_identifiers": ["MONDO:0013471", "DOID:0110513", "OMIM:613865", "UMLS:C3151230", "medgen:462580"], "information_content": 100.0}
{"id": "MONDO:0008770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1C", "equivalent_identifiers": ["MONDO:0008770", "DOID:0110056", "OMIM:204650", "UMLS:C2673923", "MESH:C567147", "medgen:388763"], "information_content": 100.0}
{"id": "HP:0006285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enamel hypomineralization", "equivalent_identifiers": ["HP:0006285", "UMLS:C3665628", "UMLS:C4280253", "UMLS:C4280460", "UMLS:C4280461", "UMLS:C5690820", "SNOMEDCT:109487003", "SNOMEDCT:1258914003", "SNOMEDCT:1258915002", "MESH:D000094603"], "information_content": 92.8}
{"id": "HP:0006286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yellow-brown discoloration of the teeth", "equivalent_identifiers": ["HP:0006286", "UMLS:C1863008"], "information_content": 100.0}
{"id": "MONDO:0957787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fliedner-Zweier syndrome", "equivalent_identifiers": ["MONDO:0957787", "OMIM:620511", "UMLS:C5882693", "medgen:1845438"], "information_content": 100.0}
{"id": "HP:0012304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic aortic arch", "equivalent_identifiers": ["HP:0012304", "NCIT:C103266", "UMLS:C0265881", "SNOMEDCT:60787001"], "information_content": 89.4}
{"id": "MONDO:0013916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 14", "equivalent_identifiers": ["MONDO:0013916", "DOID:0111122", "OMIM:614844", "UMLS:C3539071", "medgen:761313"], "information_content": 100.0}
{"id": "MONDO:0014262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rienhoff syndrome", "equivalent_identifiers": ["MONDO:0014262", "DOID:0070236", "OMIM:615582", "EFO:1000012", "UMLS:C3810012", "NCIT:C188143", "medgen:816342"], "information_content": 100.0}
{"id": "HP:0012771", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased arm span", "equivalent_identifiers": ["HP:0012771", "UMLS:C4022729"], "information_content": 100.0}
{"id": "MONDO:0018346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ferro-cerebro-cutaneous syndrome", "equivalent_identifiers": ["MONDO:0018346", "OMIM:301072", "orphanet:397922", "UMLS:C4751570", "SNOMEDCT:774151000", "medgen:1658844"], "information_content": 100.0}
{"id": "HP:0003452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating iron concentration", "equivalent_identifiers": ["HP:0003452", "UMLS:C0151900", "MEDDRA:10022987", "MEDDRA:10040310", "SNOMEDCT:165624002"], "information_content": 100.0}
{"id": "HP:0500200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF glutamate concentration", "equivalent_identifiers": ["HP:0500200", "UMLS:C5139585"], "information_content": 100.0}
{"id": "HP:0031876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating hepcidin concentration", "equivalent_identifiers": ["HP:0031876", "UMLS:C4703591"], "information_content": 100.0}
{"id": "MONDO:0054559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIq", "equivalent_identifiers": ["MONDO:0054559", "DOID:0070269", "OMIM:617395", "orphanet:435934", "UMLS:C4479353", "SNOMEDCT:1197753005", "medgen:1390458"], "information_content": 100.0}
{"id": "MONDO:0030061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular nodular heterotopia 9", "equivalent_identifiers": ["MONDO:0030061", "OMIM:618918", "UMLS:C5394503", "medgen:1718470"], "information_content": 100.0}
{"id": "HP:0010803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Everted upper lip vermilion", "equivalent_identifiers": ["HP:0010803", "UMLS:C3275452", "UMLS:C4023698", "UMLS:C4280363"], "information_content": 100.0}
{"id": "MONDO:0001552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyscalculia", "equivalent_identifiers": ["MONDO:0001552", "DOID:12568", "UMLS:C0869474", "UMLS:C1411876", "UMLS:C4280576", "MESH:D060705", "MEDDRA:10012555", "MEDDRA:10041425", "MEDDRA:10049669", "NCIT:C97165", "SNOMEDCT:47916000", "SNOMEDCT:55640002", "medgen:452779", "icd11.foundation:308101648", "HP:0002442"], "information_content": 100.0}
{"id": "HP:0030026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Squared superior portion of helix", "equivalent_identifiers": ["HP:0030026", "UMLS:C4022671"], "information_content": 100.0}
{"id": "MONDO:0008781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile amyotrophic lateral sclerosis with dementia", "equivalent_identifiers": ["MONDO:0008781", "DOID:0110067", "OMIM:205200", "UMLS:C1859806", "MESH:C565956", "medgen:395347"], "information_content": 100.0}
{"id": "MONDO:0009757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Niemann-Pick disease, type C1", "equivalent_identifiers": ["MONDO:0009757", "DOID:0070113", "OMIM:257220", "UMLS:C0268245", "UMLS:C0268247", "UMLS:C1850363", "UMLS:C3179455", "MESH:C564941", "NCIT:C126864", "SNOMEDCT:18927009", "SNOMEDCT:67855008", "medgen:465922"], "information_content": 100.0}
{"id": "HP:6000158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unesterified cholesterol accumulation in cultured fibroblasts", "equivalent_identifiers": ["HP:6000158", "UMLS:C5937001"], "information_content": 100.0}
{"id": "HP:0006583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatal liver failure in infancy", "equivalent_identifiers": ["HP:0006583", "UMLS:C4025017"], "information_content": 100.0}
{"id": "MONDO:0009552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mal de Meleda", "equivalent_identifiers": ["MONDO:0009552", "DOID:0060862", "OMIM:248300", "orphanet:87503", "UMLS:C0025221", "SNOMEDCT:239069005", "medgen:7522", "icd11.foundation:1850911834"], "information_content": 100.0}
{"id": "HP:0007553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital symmetrical palmoplantar keratosis", "equivalent_identifiers": ["HP:0007553", "UMLS:C1855459"], "information_content": 100.0}
{"id": "MONDO:0013372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 5", "equivalent_identifiers": ["MONDO:0013372", "DOID:0110647", "OMIM:613695", "UMLS:C1867904", "UMLS:C3150956", "MESH:C566766", "MEDDRA:10091020", "NCIT:C172094", "medgen:358092"], "information_content": 95.4}
{"id": "MONDO:0013363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 2q31.1 duplication syndrome", "equivalent_identifiers": ["MONDO:0013363", "DOID:0060458", "OMIM:613681", "orphanet:294026", "UMLS:C3150940", "medgen:462290"], "information_content": 100.0}
{"id": "MONDO:0044637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile-onset generalized dyskinesia with orofacial involvement", "equivalent_identifiers": ["MONDO:0044637", "OMIM:616921", "orphanet:494526", "UMLS:C5567464", "SNOMEDCT:1172603005", "medgen:1798887"], "information_content": 100.0}
{"id": "HP:0100248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemiballismus", "equivalent_identifiers": ["HP:0100248", "UMLS:C0221169", "UMLS:C0752196", "MEDDRA:10058504", "MEDDRA:10058510", "SNOMEDCT:426592006", "SNOMEDCT:66637005"], "information_content": 100.0}
{"id": "MONDO:0012618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 10", "equivalent_identifiers": ["MONDO:0012618", "DOID:0081185", "OMIM:611096", "UMLS:C1970194", "MESH:C567013", "medgen:410010"], "information_content": 100.0}
{"id": "MONDO:0100469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anosmia, isolated congenital, X-linked", "equivalent_identifiers": ["MONDO:0100469", "OMIM:301700", "UMLS:C5562112", "medgen:1794322"], "information_content": 100.0}
{"id": "MONDO:0859080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies", "equivalent_identifiers": ["MONDO:0859080", "OMIM:301066", "UMLS:C5561930", "medgen:1794140"], "information_content": 100.0}
{"id": "MONDO:0000110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bifid nose", "equivalent_identifiers": ["MONDO:0000110", "orphanet:2695", "UMLS:C0221363", "UMLS:C4280318", "UMLS:C4280319", "MESH:C535441", "SNOMEDCT:787413007", "medgen:66379", "icd11.foundation:1824850646", "HP:0011803"], "information_content": 89.4}
{"id": "HP:0012016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with occipital focal spikes", "equivalent_identifiers": ["HP:0012016", "UMLS:C4023075"], "information_content": 100.0}
{"id": "HP:0012017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with parietal focal spikes", "equivalent_identifiers": ["HP:0012017", "UMLS:C4023074"], "information_content": 100.0}
{"id": "HP:0012014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with central focal spikes", "equivalent_identifiers": ["HP:0012014", "UMLS:C4023077"], "information_content": 100.0}
{"id": "HP:0006371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad long bone diaphyses", "equivalent_identifiers": ["HP:0006371", "UMLS:C4025053"], "information_content": 100.0}
{"id": "MONDO:0007174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lown-Ganong-Levine syndrome", "equivalent_identifiers": ["MONDO:0007174", "DOID:13087", "OMIM:108950", "orphanet:844", "UMLS:C0024054", "UMLS:C1862387", "MESH:C566237", "MESH:D008151", "MEDDRA:10024984", "SNOMEDCT:55475008", "medgen:354734", "icd11.foundation:414532162", "ICD10:I45.6", "ICD9:426.81"], "information_content": 100.0}
{"id": "HP:0006671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal atrial tachycardia", "equivalent_identifiers": ["HP:0006671", "NCIT:C34900", "UMLS:C0030587", "MEDDRA:10034040", "MEDDRA:10043080", "SNOMEDCT:195069001"], "information_content": 100.0}
{"id": "MONDO:0013858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontine tegmental cap dysplasia", "equivalent_identifiers": ["MONDO:0013858", "OMIM:614688", "orphanet:269229", "UMLS:C3541340", "SNOMEDCT:782884005", "medgen:762040"], "information_content": 100.0}
{"id": "HP:0030975", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pontine tegmental cap", "equivalent_identifiers": ["HP:0030975", "UMLS:C4476888"], "information_content": 100.0}
{"id": "HP:0012155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased corneal sensation", "equivalent_identifiers": ["HP:0012155", "UMLS:C0271292", "UMLS:C0859996", "MEDDRA:10011046", "MEDDRA:10020938", "MEDDRA:10062817", "SNOMEDCT:373433005"], "information_content": 100.0}
{"id": "MONDO:0007561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia type 1", "equivalent_identifiers": ["MONDO:0007561", "DOID:0070303", "OMIM:132400", "orphanet:93308", "UMLS:C1838280", "UMLS:C1851538", "MESH:C535501", "SNOMEDCT:715673002", "medgen:325376", "icd11.foundation:2130489957"], "information_content": 100.0}
{"id": "MONDO:0013921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes simplex encephalitis, susceptibility to, 4", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0013921", "OMIM:614850", "UMLS:C3553869", "medgen:766783"], "information_content": 100.0}
{"id": "MONDO:0014270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "STT3A-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0014270", "DOID:0080572", "OMIM:615596", "orphanet:370921", "UMLS:C3810062", "UMLS:C5561935", "SNOMEDCT:733111000", "medgen:1794145"], "information_content": 100.0}
{"id": "MONDO:0007713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clonic hemifacial spasm", "equivalent_identifiers": ["MONDO:0007713", "OMIM:141405", "orphanet:221083", "UMLS:C1841639", "MESH:C564198", "medgen:374760", "icd11.foundation:353312397", "icd11.foundation:64352031"], "information_content": 100.0}
{"id": "MONDO:0013579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonate semialdehyde dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0013579", "OMIM:614105", "orphanet:289307", "UMLS:C3279840", "MESH:C566402", "SNOMEDCT:1293015005", "medgen:481470", "icd11.foundation:1700759193"], "information_content": 100.0}
{"id": "HP:0045034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 3-aminoisobutyric acid", "equivalent_identifiers": ["HP:0045034", "UMLS:C4022393"], "information_content": 100.0}
{"id": "HP:6000219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000219", "UMLS:C5937049"], "information_content": 100.0}
{"id": "HP:6000607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 3-hydroxyisobutyric acid level", "equivalent_identifiers": ["HP:6000607", "UMLS:C5937362"], "information_content": 100.0}
{"id": "HP:0020079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beta-alaninuria", "equivalent_identifiers": ["HP:0020079", "UMLS:C5139068"], "information_content": 100.0}
{"id": "MONDO:0013580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase E1-beta deficiency", "equivalent_identifiers": ["MONDO:0013580", "OMIM:614111", "orphanet:255138", "UMLS:C3279841", "MESH:C566729", "medgen:481471"], "information_content": 100.0}
{"id": "MONDO:0030331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ritscher-Schinzel syndrome 4", "equivalent_identifiers": ["MONDO:0030331", "OMIM:619435", "UMLS:C5561939", "medgen:1794149"], "information_content": 100.0}
{"id": "HP:0025101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysgenesis of the hippocampus", "equivalent_identifiers": ["HP:0025101", "UMLS:C4476591", "MEDDRA:10084984"], "information_content": 100.0}
{"id": "HP:0008491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature anterior fontanel closure", "equivalent_identifiers": ["HP:0008491", "UMLS:C4024668"], "information_content": 100.0}
{"id": "MONDO:0012481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mevalonic aciduria", "equivalent_identifiers": ["MONDO:0012481", "DOID:0050452", "OMIM:610377", "orphanet:29", "UMLS:C1959626", "MEDDRA:10072219", "NCIT:C84890", "SNOMEDCT:718558008", "medgen:368373", "icd11.foundation:572875152", "ICD10:M04.1"], "information_content": 100.0}
{"id": "HP:0032638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine mevalonic acid level", "equivalent_identifiers": ["HP:0032638", "UMLS:C5397655"], "information_content": 100.0}
{"id": "HP:6000606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary D-glyceric acid level", "equivalent_identifiers": ["HP:6000606", "UMLS:C5937361"], "information_content": 100.0}
{"id": "HP:0004819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Normocytic hypoplastic anemia", "equivalent_identifiers": ["HP:0004819", "UMLS:C1835875"], "information_content": 100.0}
{"id": "HP:0410246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgD concentration", "equivalent_identifiers": ["HP:0410246", "UMLS:C1835869"], "information_content": 95.4}
{"id": "HP:0012282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Morbilliform rash", "equivalent_identifiers": ["HP:0012282", "UMLS:C0234918", "MEDDRA:10027022", "MEDDRA:10027023", "MEDDRA:10027967", "MEDDRA:10027970", "MEDDRA:10037869", "MEDDRA:10037870", "SNOMEDCT:247470007", "SNOMEDCT:50495000"], "information_content": 100.0}
{"id": "HP:0006564", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fluctuating hepatomegaly", "equivalent_identifiers": ["HP:0006564", "UMLS:C1835881"], "information_content": 100.0}
{"id": "MONDO:0008166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovalocytosis, hereditary hemolytic, with defective erythropoiesis", "equivalent_identifiers": ["MONDO:0008166", "OMIM:166910", "UMLS:C1833689", "MESH:C563479", "medgen:322255"], "information_content": 100.0}
{"id": "MONDO:0007818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Job Syndrome", "equivalent_identifiers": ["MONDO:0007818", "DOID:3261", "OMIM:147060", "orphanet:2314", "UMLS:C1840265", "UMLS:C1968689", "UMLS:C2936739", "UMLS:C3489795", "MESH:C564135", "MESH:C567925", "MESH:D007589", "MEDDRA:10023196", "MEDDRA:10051040", "MEDDRA:10051063", "NCIT:C126342", "SNOMEDCT:1351326006", "SNOMEDCT:50926003", "medgen:445391"], "information_content": 100.0}
{"id": "HP:0031984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophageal food impaction", "equivalent_identifiers": ["HP:0031984", "UMLS:C1695984", "MEDDRA:10065567", "MEDDRA:10065575"], "information_content": 100.0}
{"id": "HP:0032043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Odynophagia", "equivalent_identifiers": ["HP:0032043", "NCIT:C129502", "UMLS:C0221150", "MEDDRA:10030094", "MEDDRA:10042648", "SNOMEDCT:30233002"], "information_content": 100.0}
{"id": "MONDO:0002840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic gastritis", "equivalent_identifiers": ["MONDO:0002840", "DOID:4030", "UMLS:C0267154", "MEDDRA:10083619", "NCIT:C27052", "SNOMEDCT:66329006", "medgen:120598", "icd11.foundation:1944772274", "ICD9:535.7", "HP:0410147"], "information_content": 100.0}
{"id": "MONDO:0001126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric ulcer", "equivalent_identifiers": ["MONDO:0001126", "DOID:10808", "EFO:0009454", "UMLS:C0038358", "MESH:D013276", "MEDDRA:10017822", "MEDDRA:10042116", "MEDDRA:10045304", "MEDDRA:10045336", "MEDDRA:10045374", "NCIT:C3388", "SNOMEDCT:397825006", "medgen:21330", "icd11.foundation:1437411258", "ICD10:K25", "ICD9:531", "HP:0002592"], "information_content": 92.8}
{"id": "MONDO:0001648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal candidiasis", "equivalent_identifiers": ["MONDO:0001648", "DOID:13146", "UMLS:C0239295", "MEDDRA:10007137", "MEDDRA:10007139", "MEDDRA:10007150", "MEDDRA:10007161", "MEDDRA:10015364", "MEDDRA:10015365", "MEDDRA:10030153", "MEDDRA:10030154", "MEDDRA:10056094", "MEDDRA:10065047", "MEDDRA:10065056", "MEDDRA:10072014", "MEDDRA:10072015", "MEDDRA:10072016", "NCIT:C27027", "SNOMEDCT:20639004", "medgen:66784", "ICD10:B37.81", "ICD9:112.84", "HP:0033351"], "information_content": 100.0}
{"id": "MONDO:0019620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital esophageal diverticulum", "equivalent_identifiers": ["MONDO:0019620", "orphanet:91358", "UMLS:C0014854", "UMLS:C0266133", "MESH:D004936", "MEDDRA:10013557", "MEDDRA:10013563", "MEDDRA:10013564", "MEDDRA:10072777", "SNOMEDCT:204667006", "SNOMEDCT:414133009", "medgen:539704", "icd11.foundation:42183618", "HP:0100628"], "information_content": 100.0}
{"id": "HP:0031858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophageal furrows", "equivalent_identifiers": ["HP:0031858", "UMLS:C4703578"], "information_content": 100.0}
{"id": "HP:0031141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased hepatic echogenicity", "equivalent_identifiers": ["HP:0031141", "UMLS:C4477000"], "information_content": 100.0}
{"id": "MONDO:0010313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 63", "equivalent_identifiers": ["MONDO:0010313", "DOID:0112050", "OMIM:300387", "UMLS:C1845672", "MESH:C564522", "medgen:337002"], "information_content": 100.0}
{"id": "MONDO:0859477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, X-linked, 5", "equivalent_identifiers": ["MONDO:0859477", "DOID:0070596", "OMIM:301099", "UMLS:C5829558", "medgen:1840194"], "information_content": 100.0}
{"id": "MONDO:0012199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polymorphous corneal dystrophy 2", "equivalent_identifiers": ["MONDO:0012199", "DOID:0110856", "OMIM:609140", "UMLS:C1852795", "MESH:C565176", "medgen:377757"], "information_content": 100.0}
{"id": "HP:0040226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of heparin co-factor II", "equivalent_identifiers": ["HP:0040226", "UMLS:C4280717"], "information_content": 100.0}
{"id": "MONDO:0020673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial occlusion", "equivalent_identifiers": ["MONDO:0020673", "UMLS:C0264995", "MEDDRA:10003166", "MEDDRA:10048818", "MEDDRA:10058475", "NCIT:C35318", "medgen:78117", "HP:0025324"], "information_content": 84.2}
{"id": "HP:0004419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent thrombophlebitis", "equivalent_identifiers": ["HP:0004419", "UMLS:C3550150"], "information_content": 100.0}
{"id": "MONDO:0054844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 1D", "equivalent_identifiers": ["MONDO:0054844", "DOID:0112323", "OMIM:618065", "UMLS:C4748058", "medgen:1648387"], "information_content": 100.0}
{"id": "MONDO:0013952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 13A (Zellweger)", "equivalent_identifiers": ["MONDO:0013952", "DOID:0080487", "OMIM:614887", "UMLS:C3554004", "MESH:C566624", "medgen:766918"], "information_content": 100.0}
{"id": "HP:0006571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced number of intrahepatic bile ducts", "equivalent_identifiers": ["HP:0006571", "UMLS:C1861621", "UMLS:C4021591"], "information_content": 100.0}
{"id": "MONDO:0014238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014238", "DOID:0081204", "OMIM:615541", "orphanet:391307", "UMLS:C3809853", "medgen:816183"], "information_content": 100.0}
{"id": "MONDO:0013344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine, with or without aura, susceptibility to, 13", "equivalent_identifiers": ["MONDO:0013344", "OMIM:613656", "UMLS:C4225479", "medgen:900808"], "information_content": 100.0}
{"id": "MONDO:0010207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome", "equivalent_identifiers": ["MONDO:0010207", "OMIM:278200", "UMLS:C0406718", "MESH:C536746", "SNOMEDCT:239023005", "medgen:98033"], "information_content": 100.0}
{"id": "MONDO:0013339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1GG", "equivalent_identifiers": ["MONDO:0013339", "DOID:0110435", "OMIM:613642", "UMLS:C3150898", "medgen:462248"], "information_content": 100.0}
{"id": "MONDO:0014093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 66", "equivalent_identifiers": ["MONDO:0014093", "DOID:0110393", "OMIM:615233", "UMLS:C3715216", "medgen:811638"], "information_content": 100.0}
{"id": "MONDO:0013957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency", "equivalent_identifiers": ["MONDO:0013957", "DOID:0111986", "OMIM:614893", "orphanet:319600", "UMLS:C3808589", "medgen:814919"], "information_content": 100.0}
{"id": "MONDO:0014250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hyperprolactinemia", "equivalent_identifiers": ["MONDO:0014250", "OMIM:615555", "orphanet:397685", "UMLS:C4706551", "SNOMEDCT:763715007", "medgen:1645317"], "information_content": 100.0}
{"id": "HP:0031109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agalactia", "equivalent_identifiers": ["HP:0031109", "NCIT:C114409", "UMLS:C0152158", "MEDDRA:10016125", "MEDDRA:10016154", "MEDDRA:10016157", "MEDDRA:10088879", "SNOMEDCT:6995000"], "information_content": 100.0}
{"id": "MONDO:0005804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperprolactinemia", "equivalent_identifiers": ["MONDO:0005804", "EFO:0007319", "UMLS:C0020514", "UMLS:C5200994", "MESH:D006966", "MEDDRA:10020737", "MEDDRA:10020739", "NCIT:C113168", "SNOMEDCT:237662005", "medgen:5698", "HP:0000870"], "information_content": 86.3}
{"id": "MONDO:0009256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactorrhea", "equivalent_identifiers": ["MONDO:0009256", "OMIM:230300", "UMLS:C0235660", "UMLS:C3665358", "MESH:D005687", "MEDDRA:10017592", "MEDDRA:10017594", "MEDDRA:10017595", "MEDDRA:10017600", "MEDDRA:10017603", "MEDDRA:10023668", "MEDDRA:10073888", "NCIT:C113343", "SNOMEDCT:198115002", "SNOMEDCT:78622004", "medgen:777088", "HP:0100829"], "information_content": 92.8}
{"id": "MONDO:0008524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syringomas, multiple", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008524", "OMIM:186600", "UMLS:C1861302", "MESH:C566085", "medgen:348321"], "information_content": 100.0}
{"id": "MONDO:0007057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acroosteolysis dominant type", "equivalent_identifiers": ["MONDO:0007057", "DOID:2736", "OMIM:102500", "orphanet:955", "UMLS:C0432286", "UMLS:C0917715", "UMLS:C1838257", "UMLS:C2930971", "MESH:C535663", "MESH:C537586", "MESH:D031845", "NCIT:C84745", "SNOMEDCT:254148004", "SNOMEDCT:63122002", "medgen:182961"], "information_content": 100.0}
{"id": "HP:0005463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elongated sella turcica", "equivalent_identifiers": ["HP:0005463", "UMLS:C1863311"], "information_content": 100.0}
{"id": "HP:0006180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crowded carpal bones", "equivalent_identifiers": ["HP:0006180", "UMLS:C1863317"], "information_content": 100.0}
{"id": "HP:0008421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tall lumbar vertebral bodies", "equivalent_identifiers": ["HP:0008421", "UMLS:C1863313"], "information_content": 100.0}
{"id": "HP:0005758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basilar impression", "equivalent_identifiers": ["HP:0005758", "UMLS:C4551802"], "information_content": 100.0}
{"id": "MONDO:0013149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features", "equivalent_identifiers": ["MONDO:0013149", "OMIM:613124", "UMLS:C2751073", "UMLS:C5193233", "MESH:C567731", "medgen:1677588"], "information_content": 100.0}
{"id": "MONDO:0011784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moyamoya disease 2", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0011784", "OMIM:607151", "UMLS:C1846689", "MESH:C536992", "NCIT:C183312", "medgen:339584"], "information_content": 100.0}
{"id": "MONDO:0044313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 60", "equivalent_identifiers": ["MONDO:0044313", "DOID:0081222", "OMIM:617432", "UMLS:C4479476", "medgen:1373351"], "information_content": 100.0}
{"id": "MONDO:0007875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Larsen syndrome", "equivalent_identifiers": ["MONDO:0007875", "DOID:14764", "OMIM:150250", "orphanet:503", "UMLS:C0175778", "MESH:C580241", "MEDDRA:10073856", "SNOMEDCT:63387002", "medgen:104500", "icd11.foundation:607849551"], "information_content": 100.0}
{"id": "HP:0003994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dislocated wrist", "equivalent_identifiers": ["HP:0003994", "UMLS:C0159941", "UMLS:C3278433", "MEDDRA:10013184", "SNOMEDCT:125618007", "SNOMEDCT:833335001"], "information_content": 100.0}
{"id": "HP:0001222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spatulate thumbs", "equivalent_identifiers": ["HP:0001222", "UMLS:C0241395"], "information_content": 100.0}
{"id": "HP:0003883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapered humerus", "equivalent_identifiers": ["HP:0003883", "UMLS:C4025531"], "information_content": 100.0}
{"id": "HP:0006067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple carpal ossification centers", "equivalent_identifiers": ["HP:0006067", "UMLS:C1835573"], "information_content": 95.4}
{"id": "HP:0008434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic cervical vertebrae", "equivalent_identifiers": ["HP:0008434", "UMLS:C1835570"], "information_content": 100.0}
{"id": "MONDO:0010694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus, myoclonic", "equivalent_identifiers": ["MONDO:0010694", "OMIM:310800", "UMLS:C1839579", "MESH:C564088", "medgen:326918"], "information_content": 100.0}
{"id": "MONDO:0014089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome", "equivalent_identifiers": ["MONDO:0014089", "OMIM:615225", "orphanet:352662", "UMLS:C3808876", "medgen:815206"], "information_content": 100.0}
{"id": "HP:0032347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous macular amyloidosis", "equivalent_identifiers": ["HP:0032347", "UMLS:C0546393", "SNOMEDCT:111032003"], "information_content": 100.0}
{"id": "MONDO:0025667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limbal stem cell deficiency", "equivalent_identifiers": ["MONDO:0025667", "orphanet:171673", "UMLS:C1561989", "MESH:D000092423", "MEDDRA:10072138", "SNOMEDCT:417089009", "medgen:295775", "HP:0032107"], "information_content": 100.0}
{"id": "MONDO:0019065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis", "equivalent_identifiers": ["MONDO:0019065", "DOID:9120", "orphanet:69", "EFO:1001875", "UMLS:C0002726", "MESH:D000686", "MEDDRA:10002021", "MEDDRA:10002022", "MEDDRA:10002023", "MEDDRA:10002024", "NCIT:C2868", "SNOMEDCT:17602002", "medgen:272", "icd11.foundation:2078467774", "ICD10:E85", "ICD9:277.3", "HP:0011034"], "information_content": 74.1}
{"id": "MONDO:0011592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 3", "equivalent_identifiers": ["MONDO:0011592", "DOID:0111409", "OMIM:605750", "UMLS:C1854002", "MESH:C565297", "medgen:344184"], "information_content": 100.0}
{"id": "HP:0008052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal fold", "equivalent_identifiers": ["HP:0008052", "NCIT:C124578", "UMLS:C0229197", "SNOMEDCT:37480005"], "information_content": 95.4}
{"id": "HP:0011530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal hole", "equivalent_identifiers": ["HP:0011530", "UMLS:C0392074", "UMLS:C4551442", "MEDDRA:10066423", "MEDDRA:10087979", "SNOMEDCT:302888003"], "information_content": 100.0}
{"id": "MONDO:0013950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 11B", "equivalent_identifiers": ["MONDO:0013950", "DOID:0081439", "OMIM:614885", "UMLS:C3554001", "medgen:766915"], "information_content": 100.0}
{"id": "MONDO:0024355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory tract infectious disorder", "equivalent_identifiers": ["MONDO:0024355", "UMLS:C0035243", "MESH:D012141", "MEDDRA:10021863", "MEDDRA:10024970", "MEDDRA:10038700", "MEDDRA:10039249", "MEDDRA:10046143", "MEDDRA:10049083", "MEDDRA:10062352", "SNOMEDCT:275498002", "HP:0011947"], "information_content": 71.7}
{"id": "MONDO:0023664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 54", "equivalent_identifiers": ["MONDO:0023664", "DOID:0112335", "OMIM:619379", "UMLS:C5543570", "medgen:1782493"], "information_content": 100.0}
{"id": "HP:0033524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sperm axoneme morphology", "equivalent_identifiers": ["HP:0033524", "UMLS:C5539895"], "information_content": 95.4}
{"id": "MONDO:0011099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "human HOXA1 syndromes", "equivalent_identifiers": ["MONDO:0011099", "DOID:0050682", "OMIM:601536", "orphanet:69739", "UMLS:C1832215", "MESH:C535397", "SNOMEDCT:720518006", "medgen:330410"], "information_content": 95.4}
{"id": "HP:0007110", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central hypoventilation", "equivalent_identifiers": ["HP:0007110", "UMLS:C3805839"], "information_content": 100.0}
{"id": "MONDO:0009463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "internal carotid arteries, hypoplasia of", "equivalent_identifiers": ["MONDO:0009463", "OMIM:243100", "UMLS:C1855736", "UMLS:C4280491", "UMLS:C4280492", "UMLS:C4280493", "medgen:383757", "HP:0005290"], "information_content": 100.0}
{"id": "MONDO:0007176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "helicoid peripapillary chorioretinal degeneration", "equivalent_identifiers": ["MONDO:0007176", "DOID:0111228", "OMIM:108985", "orphanet:86813", "UMLS:C1862382", "MESH:C566236", "SNOMEDCT:724384008", "medgen:354733", "icd11.foundation:896652469"], "information_content": 100.0}
{"id": "HP:0007950", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripapillary chorioretinal atrophy", "equivalent_identifiers": ["HP:0007950", "UMLS:C4024765"], "information_content": 100.0}
{"id": "MONDO:0054845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 66", "equivalent_identifiers": ["MONDO:0054845", "DOID:0080446", "OMIM:618067", "UMLS:C4748070", "NCIT:C198576", "medgen:1648486"], "information_content": 100.0}
{"id": "HP:0011167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal tonic seizure", "equivalent_identifiers": ["HP:0011167", "UMLS:C0752324", "SNOMEDCT:1269360002"], "information_content": 92.8}
{"id": "MONDO:0007341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleidorhizomelic syndrome", "equivalent_identifiers": ["MONDO:0007341", "OMIM:119650", "orphanet:1453", "UMLS:C1861515", "MESH:C536428", "SNOMEDCT:719471002", "medgen:350042"], "information_content": 100.0}
{"id": "HP:0000889", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal clavicle morphology", "equivalent_identifiers": ["HP:0000889", "UMLS:C4021792"], "information_content": 78.0}
{"id": "MONDO:0013955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency", "equivalent_identifiers": ["MONDO:0013955", "DOID:0111990", "OMIM:614891", "orphanet:319552", "UMLS:C4013949", "NCIT:C176800", "medgen:862386"], "information_content": 100.0}
{"id": "MONDO:0009971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory distress syndrome in premature infants", "equivalent_identifiers": ["MONDO:0009971", "OMIM:267450", "UMLS:C1968593", "MESH:C566881", "medgen:368840", "icd11.foundation:343716587"], "information_content": 100.0}
{"id": "MONDO:0013337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory and autonomic, type 1C", "equivalent_identifiers": ["MONDO:0013337", "DOID:0070157", "OMIM:613640", "UMLS:C3150896", "SNOMEDCT:860814001", "medgen:462246"], "information_content": 100.0}
{"id": "HP:0033660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand paresthesia", "equivalent_identifiers": ["HP:0033660", "UMLS:C0239836", "MEDDRA:10049230", "MEDDRA:10054530", "SNOMEDCT:309086004"], "information_content": 100.0}
{"id": "HP:0003409", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal sensory impairment of all modalities", "equivalent_identifiers": ["HP:0003409", "UMLS:C1836527"], "information_content": 100.0}
{"id": "HP:0200042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin ulcer", "equivalent_identifiers": ["HP:0200042", "NCIT:C54247", "UMLS:C0037299", "MEDDRA:10040943", "MEDDRA:10040945", "MEDDRA:10040947", "MEDDRA:10045334", "SNOMEDCT:46742003", "MESH:D012883"], "information_content": 83.6}
{"id": "MONDO:0014758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radioulnar synostosis with amegakaryocytic thrombocytopenia 2", "equivalent_identifiers": ["MONDO:0014758", "OMIM:616738", "UMLS:C4225221", "medgen:901732"], "information_content": 100.0}
{"id": "HP:0009295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short middle phalanx of the 4th finger", "equivalent_identifiers": ["HP:0009295", "UMLS:C4021497"], "information_content": 100.0}
{"id": "MONDO:0012944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17P13.3, telomeric, duplication syndrome", "equivalent_identifiers": ["MONDO:0012944", "OMIM:612576", "UMLS:C2675492", "MESH:C567245", "medgen:390813"], "information_content": 100.0}
{"id": "HP:0012165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oligodactyly", "equivalent_identifiers": ["HP:0012165", "UMLS:C3887496"], "information_content": 87.2}
{"id": "HP:0012386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent hallux", "equivalent_identifiers": ["HP:0012386", "UMLS:C1841686", "SNOMEDCT:1144703005"], "information_content": 100.0}
{"id": "HP:0009471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the proximal interphalangeal joint of the 3rd finger", "equivalent_identifiers": ["HP:0009471", "UMLS:C4021467"], "information_content": 100.0}
{"id": "HP:0009700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger symphalangism", "equivalent_identifiers": ["HP:0009700", "UMLS:C4021399"], "information_content": 76.5}
{"id": "MONDO:0014085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus, nonsyndromic, autosomal recessive 2", "equivalent_identifiers": ["MONDO:0014085", "OMIM:615219", "UMLS:C3554691", "medgen:767605"], "information_content": 100.0}
{"id": "MONDO:0011432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis - intellectual disability syndrome, Verloes type", "equivalent_identifiers": ["MONDO:0011432", "OMIM:604314", "orphanet:293725", "UMLS:C1858538", "MESH:C565797", "medgen:347661"], "information_content": 100.0}
{"id": "HP:0000996", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial capillary hemangioma", "equivalent_identifiers": ["HP:0000996", "UMLS:C1858545"], "information_content": 90.9}
{"id": "MONDO:0013351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", "equivalent_identifiers": ["MONDO:0013351", "DOID:0111262", "OMIM:613668", "orphanet:402364", "UMLS:C3150921", "medgen:462271"], "information_content": 100.0}
{"id": "HP:0012695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased thalamic volume", "equivalent_identifiers": ["HP:0012695", "UMLS:C4022771"], "information_content": 100.0}
{"id": "MONDO:0030378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 53", "equivalent_identifiers": ["MONDO:0030378", "DOID:0070426", "OMIM:619423", "UMLS:C5543631", "medgen:1779083"], "information_content": 100.0}
{"id": "MONDO:0014742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 22, autosomal dominant", "equivalent_identifiers": ["MONDO:0014742", "DOID:0080504", "OMIM:616710", "UMLS:C4225238", "medgen:907886"], "information_content": 100.0}
{"id": "MONDO:0012718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia with lactic acidemia and hyperammonemia", "equivalent_identifiers": ["MONDO:0012718", "DOID:0111473", "OMIM:611719", "orphanet:137908", "UMLS:C2673642", "MESH:C567126", "SNOMEDCT:724279004", "medgen:435972"], "information_content": 100.0}
{"id": "HP:0025672", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal skin edema", "equivalent_identifiers": ["HP:0025672", "UMLS:C5676611"], "information_content": 100.0}
{"id": "HP:0000091", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal tubule morphology", "equivalent_identifiers": ["HP:0000091", "UMLS:C4021826"], "information_content": 70.3}
{"id": "MONDO:0859156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysostosis multiplex, Ain-Naz type", "equivalent_identifiers": ["MONDO:0859156", "OMIM:619345", "UMLS:C5444223", "medgen:1780944"], "information_content": 100.0}
{"id": "HP:0033985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elongated femoral neck", "equivalent_identifiers": ["HP:0033985", "UMLS:C1840066"], "information_content": 100.0}
{"id": "HP:0006633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glenoid fossa hypoplasia", "equivalent_identifiers": ["HP:0006633", "UMLS:C1834384"], "information_content": 100.0}
{"id": "HP:0003886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide humerus", "equivalent_identifiers": ["HP:0003886", "UMLS:C4021715"], "information_content": 100.0}
{"id": "MONDO:0009877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laron syndrome", "equivalent_identifiers": ["MONDO:0009877", "DOID:9521", "OMIM:262500", "orphanet:633", "UMLS:C0271568", "MESH:D046150", "MEDDRA:10075492", "MEDDRA:10082851", "NCIT:C130994", "SNOMEDCT:38196001", "medgen:78776", "ICD10:E34.321"], "information_content": 100.0}
{"id": "MONDO:0009793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome III", "equivalent_identifiers": ["MONDO:0009793", "DOID:0060373", "OMIM:258850", "UMLS:C0406726", "MESH:C557817", "SNOMEDCT:239030004", "medgen:96069"], "information_content": 100.0}
{"id": "MONDO:0013851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant aplasia and myelodysplasia", "equivalent_identifiers": ["MONDO:0013851", "OMIM:614675", "orphanet:314399", "UMLS:C3808553", "medgen:814883"], "information_content": 100.0}
{"id": "MONDO:0025708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 2", "equivalent_identifiers": ["MONDO:0025708", "OMIM:619351", "UMLS:C5543476", "medgen:1788773"], "information_content": 100.0}
{"id": "MONDO:1010128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peritonitis", "equivalent_identifiers": ["MONDO:1010128", "UMLS:C0031154", "MESH:D010538", "MEDDRA:10034674", "MEDDRA:10034685", "MEDDRA:10046096", "SNOMEDCT:48661000", "medgen:14697", "icd11.foundation:775356003", "HP:0002586"], "information_content": 88.2}
{"id": "HP:0010956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal megacystis", "equivalent_identifiers": ["HP:0010956", "UMLS:C2931117", "MEDDRA:10073660", "MEDDRA:10073665"], "information_content": 100.0}
{"id": "HP:0011499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mydriasis", "equivalent_identifiers": ["HP:0011499", "NCIT:C193441", "UMLS:C0026961", "MEDDRA:10013007", "MEDDRA:10013014", "MEDDRA:10028521", "MEDDRA:10037535", "SNOMEDCT:37125009", "MESH:D015878"], "information_content": 95.4}
{"id": "HP:0011102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ileal atresia", "equivalent_identifiers": ["HP:0011102", "NCIT:C101026", "UMLS:C0266176", "MEDDRA:10021298", "SNOMEDCT:25896009"], "information_content": 92.8}
{"id": "HP:0012383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bidirectional shunt", "equivalent_identifiers": ["HP:0012383", "UMLS:C0428872", "SNOMEDCT:13352000"], "information_content": 100.0}
{"id": "MONDO:0002476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anuria", "equivalent_identifiers": ["MONDO:0002476", "DOID:2983", "EFO:0009530", "UMLS:C0003460", "MESH:D001002", "MEDDRA:10002847", "MEDDRA:10003113", "MEDDRA:10016160", "MEDDRA:10046550", "MEDDRA:10046641", "NCIT:C114699", "SNOMEDCT:2472002", "medgen:358", "icd11.foundation:248693056", "HP:0100519"], "information_content": 95.4}
{"id": "MONDO:0007900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic congenital nail disorder 3", "equivalent_identifiers": ["MONDO:0007900", "DOID:0080081", "OMIM:151600", "UMLS:C0263532", "UMLS:C0544855", "UMLS:C2931467", "MESH:C537289", "SNOMEDCT:74102009", "medgen:107463"], "information_content": 100.0}
{"id": "HP:0011121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal skin morphology", "equivalent_identifiers": ["HP:0011121", "UMLS:C4023528"], "information_content": 51.1}
{"id": "MONDO:0008455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, segmental", "equivalent_identifiers": ["MONDO:0008455", "OMIM:183020", "UMLS:C1866774", "MESH:C566670", "medgen:355801", "HP:0009037"], "information_content": 100.0}
{"id": "MONDO:0003182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior horn disorder", "equivalent_identifiers": ["MONDO:0003182", "DOID:4873", "UMLS:C0154681", "UMLS:C4020812", "MEDDRA:10002694", "MEDDRA:10002695", "MEDDRA:10002696", "MEDDRA:10045639", "SNOMEDCT:85672005", "medgen:102314", "ICD9:335", "HP:0006802"], "information_content": 68.4}
{"id": "MONDO:0032886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liang-Wang syndrome", "equivalent_identifiers": ["MONDO:0032886", "OMIM:618729", "orphanet:664438", "UMLS:C5231479", "medgen:1684847"], "information_content": 100.0}
{"id": "MONDO:0044350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperparathyroidism, primary, caused by water clear cell hyperplasia", "equivalent_identifiers": ["MONDO:0044350", "OMIM:600166", "UMLS:C1838501", "MESH:C563982", "medgen:325036"], "information_content": 100.0}
{"id": "MONDO:0030333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 84", "equivalent_identifiers": ["MONDO:0030333", "DOID:0061054", "OMIM:619437", "UMLS:C5561940", "medgen:1794150"], "information_content": 100.0}
{"id": "MONDO:0007307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1B", "equivalent_identifiers": ["MONDO:0007307", "DOID:0110152", "OMIM:118200", "orphanet:101082", "UMLS:C0270912", "NCIT:C118782", "SNOMEDCT:42986003", "medgen:124377", "icd11.foundation:1632280319"], "information_content": 100.0}
{"id": "HP:0001178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar claw", "equivalent_identifiers": ["HP:0001178", "UMLS:C4025799"], "information_content": 100.0}
{"id": "MONDO:0018690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adie syndrome", "equivalent_identifiers": ["MONDO:0018690", "DOID:11549", "OMIM:103100", "orphanet:454718", "EFO:0004126", "UMLS:C0001519", "UMLS:C0040416", "MESH:D000270", "MESH:D015845", "MEDDRA:10020352", "MEDDRA:10020353", "MEDDRA:10037512", "MEDDRA:10043995", "MEDDRA:10050003", "NCIT:C34357", "SNOMEDCT:24225004", "medgen:138", "HP:0012074"], "information_content": 100.0}
{"id": "HP:0003449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cold-induced muscle cramps", "equivalent_identifiers": ["HP:0003449", "UMLS:C1861675"], "information_content": 95.4}
{"id": "HP:0004336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelin outfoldings", "equivalent_identifiers": ["HP:0004336", "UMLS:C1843168"], "information_content": 100.0}
{"id": "MONDO:8000014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial antiphospholipid syndrome", "equivalent_identifiers": ["MONDO:8000014", "OMIM:107320", "UMLS:C2930802", "MESH:C531622", "medgen:419641"], "information_content": 100.0}
{"id": "MONDO:0001633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central retinal artery occlusion", "equivalent_identifiers": ["MONDO:0001633", "DOID:13098", "orphanet:648684", "UMLS:C0007688", "MEDDRA:10007971", "NCIT:C34456", "SNOMEDCT:38742007", "medgen:40177", "icd11.foundation:613330234", "ICD10:H34.1", "ICD9:362.31", "HP:0025342"], "information_content": 100.0}
{"id": "MONDO:0006950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal vasculitis", "equivalent_identifiers": ["MONDO:0006950", "DOID:11563", "EFO:1001156", "UMLS:C0152026", "MESH:D031300", "MEDDRA:10038905", "MEDDRA:10047131", "SNOMEDCT:77628002", "medgen:57503", "icd11.foundation:1863208483", "ICD10:H35.06", "ICD9:362.18", "HP:0025188"], "information_content": 95.4}
{"id": "HP:0025343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lupus anticoagulant", "equivalent_identifiers": ["HP:0025343", "UMLS:C4321325"], "information_content": 100.0}
{"id": "MONDO:0044138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyalitis", "equivalent_identifiers": ["MONDO:0044138", "EFO:0008628", "UMLS:C0235812", "MEDDRA:10047663", "MEDDRA:10054835", "MEDDRA:10054870", "MEDDRA:10054900", "MEDDRA:10054901", "NCIT:C50587", "SNOMEDCT:95802009", "medgen:68620", "HP:0011531"], "information_content": 90.9}
{"id": "MONDO:0001718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scleritis", "equivalent_identifiers": ["MONDO:0001718", "DOID:13452", "UMLS:C0036416", "MESH:D015423", "MEDDRA:10039705", "MEDDRA:10039707", "MEDDRA:10039709", "NCIT:C119046", "SNOMEDCT:78370002", "medgen:48585", "icd11.foundation:2097802831", "ICD10:H15.0", "ICD9:379.00", "HP:0100532"], "information_content": 83.6}
{"id": "MONDO:0008559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to thrombin defect", "equivalent_identifiers": ["MONDO:0008559", "DOID:0080701", "DOID:0111907", "OMIM:188050", "UMLS:C0042487", "UMLS:C3160733", "MESH:D020246", "MEDDRA:10034904", "MEDDRA:10043640", "MEDDRA:10047249", "MEDDRA:10047253", "NCIT:C99107", "SNOMEDCT:111293003", "medgen:463623", "HP:0004936"], "information_content": 81.7}
{"id": "MONDO:0009401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperprolinemia type 2", "equivalent_identifiers": ["MONDO:0009401", "DOID:0080543", "OMIM:239510", "orphanet:79101", "UMLS:C2931835", "MESH:C538385", "MEDDRA:10058512", "MEDDRA:10058514", "SNOMEDCT:124177001", "SNOMEDCT:717181004", "medgen:419175"], "information_content": 100.0}
{"id": "HP:6000620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary pyrroline hydroxycarboxylic acid level", "equivalent_identifiers": ["HP:6000620", "UMLS:C5937375"], "information_content": 100.0}
{"id": "HP:6000694", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 1-pyrroline-5-carboxylic acid concentration", "equivalent_identifiers": ["HP:6000694", "UMLS:C5937430"], "information_content": 100.0}
{"id": "HP:6000695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity", "equivalent_identifiers": ["HP:6000695", "UMLS:C5937431"], "information_content": 100.0}
{"id": "MONDO:0012938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 7", "equivalent_identifiers": ["MONDO:0012938", "DOID:0111878", "OMIM:612562", "UMLS:C2675512", "MESH:C567254", "NCIT:C176916", "medgen:436451"], "information_content": 100.0}
{"id": "MONDO:0011271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rigid spine muscular dystrophy 1", "equivalent_identifiers": ["MONDO:0011271", "DOID:0110633", "OMIM:602771", "UMLS:C0410180", "NCIT:C126691", "SNOMEDCT:240063002", "medgen:98047", "ICD10:G71.8"], "information_content": 95.4}
{"id": "HP:0005991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited neck flexion", "equivalent_identifiers": ["HP:0005991", "UMLS:C1864449"], "information_content": 100.0}
{"id": "MONDO:0009712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital multicore myopathy with external ophthalmoplegia", "equivalent_identifiers": ["MONDO:0009712", "OMIM:255320", "orphanet:98905", "UMLS:C1850674", "MESH:C564969", "NCIT:C150608", "medgen:340597", "HP:0003789"], "information_content": 95.4}
{"id": "HP:0003787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type 1 and type 2 muscle fiber minicore regions", "equivalent_identifiers": ["HP:0003787", "UMLS:C4025568"], "information_content": 100.0}
{"id": "MONDO:0013581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 2", "equivalent_identifiers": ["MONDO:0013581", "DOID:0070032", "OMIM:614113", "UMLS:C3279842", "medgen:481472"], "information_content": 100.0}
{"id": "MONDO:0013373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1V", "equivalent_identifiers": ["MONDO:0013373", "DOID:0110427", "OMIM:613697", "UMLS:C3150958", "MESH:C566856", "medgen:462308"], "information_content": 100.0}
{"id": "MONDO:0014837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 6", "equivalent_identifiers": ["MONDO:0014837", "OMIM:616937", "orphanet:480851", "UMLS:C4310789", "medgen:934756"], "information_content": 100.0}
{"id": "MONDO:0018828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudo-TORCH syndrome 2", "equivalent_identifiers": ["MONDO:0018828", "OMIM:617397", "orphanet:481665", "UMLS:C4479376", "SNOMEDCT:1251449006", "medgen:1373355"], "information_content": 100.0}
{"id": "MONDO:0006502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute respiratory distress syndrome", "equivalent_identifiers": ["MONDO:0006502", "EFO:1000637", "UMLS:C2887484", "NCIT:C3353", "medgen:1812214", "icd11.foundation:1189702844", "HP:0033677"], "information_content": 89.4}
{"id": "HP:0005932", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal corticomedullary differentiation", "equivalent_identifiers": ["HP:0005932", "UMLS:C4025102"], "information_content": 92.8}
{"id": "MONDO:0013918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TETRASOMY 15q26", "equivalent_identifiers": ["MONDO:0013918", "OMIM:614846", "orphanet:314588", "UMLS:C3553858", "medgen:766772"], "information_content": 100.0}
{"id": "MONDO:0009764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular motor apraxia, Cogan type", "equivalent_identifiers": ["MONDO:0009764", "DOID:0080849", "OMIM:257550", "orphanet:1125", "UMLS:C0543874", "MESH:C537423", "MEDDRA:10053877", "MEDDRA:10053941", "SNOMEDCT:405809000", "medgen:154254"], "information_content": 100.0}
{"id": "HP:0008026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal opticokinetic nystagmus", "equivalent_identifiers": ["HP:0008026", "UMLS:C4024754"], "information_content": 100.0}
{"id": "HP:0006961", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jerky head movements", "equivalent_identifiers": ["HP:0006961", "UMLS:C1855568"], "information_content": 100.0}
{"id": "MONDO:0009081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, congenital, with total albinism", "equivalent_identifiers": ["MONDO:0009081", "OMIM:220900", "UMLS:C1857343", "MESH:C565646", "medgen:387799"], "information_content": 100.0}
{"id": "MONDO:0013923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 9, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0013923", "DOID:0070292", "OMIM:614852", "UMLS:C3553886", "medgen:766800"], "information_content": 100.0}
{"id": "MONDO:0054551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "avascular necrosis of femoral head, primary, 2", "equivalent_identifiers": ["MONDO:0054551", "OMIM:617383", "UMLS:C4479260", "medgen:1386338"], "information_content": 100.0}
{"id": "MONDO:0008298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial tetramelic oligodactyly", "equivalent_identifiers": ["MONDO:0008298", "OMIM:176240", "orphanet:2730", "UMLS:C1867924", "MESH:C566767", "SNOMEDCT:770946000", "medgen:357380"], "information_content": 100.0}
{"id": "HP:0006209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial-complete absence of 5th phalanges", "equivalent_identifiers": ["HP:0006209", "UMLS:C1867928"], "information_content": 100.0}
{"id": "HP:0004251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lunate-triquetral fusion", "equivalent_identifiers": ["HP:0004251", "UMLS:C1867930"], "information_content": 100.0}
{"id": "HP:0006210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postaxial oligodactyly", "equivalent_identifiers": ["HP:0006210", "UMLS:C1867927"], "information_content": 100.0}
{"id": "HP:0010046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 5th metacarpal", "equivalent_identifiers": ["HP:0010046", "UMLS:C1867929"], "information_content": 100.0}
{"id": "MONDO:0007973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mental and growth retardation with amblyopia", "equivalent_identifiers": ["MONDO:0007973", "OMIM:156190", "UMLS:C1835028", "MESH:C563591", "medgen:331885"], "information_content": 100.0}
{"id": "MONDO:0011028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2F", "equivalent_identifiers": ["MONDO:0011028", "DOID:0110280", "OMIM:601287", "orphanet:219", "UMLS:C1832525", "MESH:C535896", "SNOMEDCT:718177001", "medgen:331308"], "information_content": 100.0}
{"id": "MONDO:0859515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 10b, mild variant", "equivalent_identifiers": ["MONDO:0859515", "DOID:0081345", "OMIM:620249", "UMLS:C3541476", "medgen:762102"], "information_content": 100.0}
{"id": "HP:0009055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized limb muscle atrophy", "equivalent_identifiers": ["HP:0009055", "UMLS:C1838114"], "information_content": 100.0}
{"id": "MONDO:0010325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Stocco dos Santos type", "equivalent_identifiers": ["MONDO:0010325", "DOID:0112126", "OMIM:300434", "orphanet:85288", "UMLS:C1845530", "UMLS:C4305076", "MESH:C537495", "SNOMEDCT:718910006", "medgen:335202"], "information_content": 100.0}
{"id": "MONDO:0009728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 1", "equivalent_identifiers": ["MONDO:0009728", "DOID:0111112", "OMIM:256100", "orphanet:93592", "UMLS:C1855681", "MESH:C537699", "NCIT:C74998", "SNOMEDCT:444830001", "medgen:343406"], "information_content": 95.4}
{"id": "HP:0005583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tubular basement membrane disintegration", "equivalent_identifiers": ["HP:0005583", "UMLS:C1968618"], "information_content": 100.0}
{"id": "MONDO:0007447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant vibratory urticaria", "equivalent_identifiers": ["MONDO:0007447", "OMIM:125630", "orphanet:493342", "UMLS:C1852146", "MESH:C536347", "SNOMEDCT:238694002"], "information_content": 100.0}
{"id": "MONDO:0013474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 17", "equivalent_identifiers": ["MONDO:0013474", "DOID:0110323", "OMIM:613873", "UMLS:C3151264", "NCIT:C172093", "medgen:462614"], "information_content": 100.0}
{"id": "MONDO:0020845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5", "equivalent_identifiers": ["MONDO:0020845", "DOID:0111524", "OMIM:618098", "UMLS:C4748184", "medgen:1648331"], "information_content": 100.0}
{"id": "HP:0011469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal regurgitation", "equivalent_identifiers": ["HP:0011469", "UMLS:C0232608", "SNOMEDCT:85023004"], "information_content": 100.0}
{"id": "MONDO:0957783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis with erythrokeratoderma", "equivalent_identifiers": ["MONDO:0957783", "OMIM:620507", "UMLS:C5882691", "medgen:1852819"], "information_content": 100.0}
{"id": "MONDO:0017666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tylosis", "equivalent_identifiers": ["MONDO:0017666", "orphanet:307141", "UMLS:C0022584", "UMLS:C4021575", "MESH:D015776", "MEDDRA:10045206", "NCIT:C3147", "SNOMEDCT:400123002", "medgen:7201", "icd11.foundation:1259583500", "HP:0007447"], "information_content": 74.9}
{"id": "MONDO:0010305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "creatine transporter deficiency", "equivalent_identifiers": ["MONDO:0010305", "DOID:0050800", "OMIM:300352", "orphanet:52503", "UMLS:C1845862", "MESH:C535598", "MEDDRA:10084842", "NCIT:C125665", "SNOMEDCT:698290008", "medgen:337451"], "information_content": 100.0}
{"id": "HP:6000127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary creatine/creatinine ratio", "equivalent_identifiers": ["HP:6000127", "UMLS:C5936982"], "information_content": 100.0}
{"id": "HP:0025051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced brain creatine level by MRS", "equivalent_identifiers": ["HP:0025051", "UMLS:C4476570"], "information_content": 100.0}
{"id": "HP:0008583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underfolded superior helices", "equivalent_identifiers": ["HP:0008583", "UMLS:C4024655"], "information_content": 100.0}
{"id": "HP:0007057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor hand-eye coordination", "equivalent_identifiers": ["HP:0007057", "UMLS:C1845864"], "information_content": 100.0}
{"id": "HP:0034291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating creatine concentration", "equivalent_identifiers": ["HP:0034291", "UMLS:C5706147"], "information_content": 95.4}
{"id": "MONDO:0012213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 26", "equivalent_identifiers": ["MONDO:0012213", "DOID:0110777", "OMIM:609195", "orphanet:101006", "UMLS:C1836632", "MESH:C536862", "SNOMEDCT:726607007", "medgen:373138"], "information_content": 100.0}
{"id": "HP:0100020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior capsular cataract", "equivalent_identifiers": ["HP:0100020", "UMLS:C4022388"], "information_content": 100.0}
{"id": "MONDO:0030311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 52", "equivalent_identifiers": ["MONDO:0030311", "DOID:0070425", "OMIM:619386", "UMLS:C5543592", "medgen:1780479"], "information_content": 100.0}
{"id": "MONDO:0006789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperamylasemia", "equivalent_identifiers": ["MONDO:0006789", "EFO:1000969", "UMLS:C0221773", "UMLS:C0476327", "MESH:D034321", "MEDDRA:10002018", "MEDDRA:10040139", "MEDDRA:10062770", "MEDDRA:10062777", "NCIT:C113755", "NCIT:C78608", "SNOMEDCT:275739007", "medgen:105401", "HP:0410288"], "information_content": 100.0}
{"id": "MONDO:0008069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "necrotizing encephalomyelopathy, subacute, of Leigh, adult", "equivalent_identifiers": ["MONDO:0008069", "OMIM:161700", "UMLS:C1834340", "MESH:C563530", "medgen:331718"], "information_content": 100.0}
{"id": "HP:0008074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metatarsal periosteal thickening", "equivalent_identifiers": ["HP:0008074", "UMLS:C1834349"], "information_content": 100.0}
{"id": "HP:0006051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpal periosteal thickening", "equivalent_identifiers": ["HP:0006051", "UMLS:C1834347"], "information_content": 100.0}
{"id": "HP:0006175", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal phalangeal periosteal thickening", "equivalent_identifiers": ["HP:0006175", "UMLS:C1834348", "UMLS:C4280463"], "information_content": 100.0}
{"id": "HP:0005207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastric hypertrophy", "equivalent_identifiers": ["HP:0005207", "UMLS:C1834341", "UMLS:C4280502"], "information_content": 95.4}
{"id": "MONDO:0007639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fundus albipunctatus", "equivalent_identifiers": ["MONDO:0007639", "DOID:11105", "OMIM:136880", "orphanet:227796", "UMLS:C0311338", "MESH:C562733", "SNOMEDCT:68222009", "SNOMEDCT:764939004", "medgen:86317", "icd11.foundation:1981512475", "HP:0030642"], "information_content": 95.4}
{"id": "HP:0012045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal flecks", "equivalent_identifiers": ["HP:0012045", "UMLS:C0423414", "SNOMEDCT:247138002"], "information_content": 95.4}
{"id": "MONDO:0025353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 90", "equivalent_identifiers": ["MONDO:0025353", "DOID:0070381", "OMIM:301058", "UMLS:C5542345", "medgen:1786502"], "information_content": 100.0}
{"id": "HP:0010945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyelectasis", "equivalent_identifiers": ["HP:0010945", "UMLS:C2317073", "SNOMEDCT:430035004", "MESH:D058536"], "information_content": 89.4}
{"id": "MONDO:0010571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otopalatodigital syndrome type 2", "equivalent_identifiers": ["MONDO:0010571", "DOID:0111784", "OMIM:304120", "orphanet:90652", "UMLS:C1844696", "MESH:C538089", "MEDDRA:10084420", "SNOMEDCT:42432003", "medgen:337064", "icd11.foundation:1897308206"], "information_content": 100.0}
{"id": "HP:0010559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertical clivus", "equivalent_identifiers": ["HP:0010559", "UMLS:C1844702"], "information_content": 100.0}
{"id": "MONDO:0015197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysm of sinus of Valsalva", "equivalent_identifiers": ["MONDO:0015197", "orphanet:1054", "EFO:0010163", "UMLS:C0265893", "UMLS:C2062868", "UMLS:C2239253", "UMLS:C4476551", "MEDDRA:10084035", "SNOMEDCT:54160000", "medgen:853730", "icd11.foundation:364348641", "HP:0011645"], "information_content": 100.0}
{"id": "HP:0006381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rudimentary fibula", "equivalent_identifiers": ["HP:0006381", "UMLS:C1844706"], "information_content": 100.0}
{"id": "HP:0008087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonossified fifth metatarsal", "equivalent_identifiers": ["HP:0008087", "UMLS:C1844712"], "information_content": 100.0}
{"id": "HP:0100857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat sella turcica", "equivalent_identifiers": ["HP:0100857", "UMLS:C4021952"], "information_content": 100.0}
{"id": "HP:0010560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undulate clavicles", "equivalent_identifiers": ["HP:0010560", "UMLS:C4021253"], "information_content": 100.0}
{"id": "HP:0002694", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerosis of skull base", "equivalent_identifiers": ["HP:0002694", "UMLS:C1851714", "UMLS:C4072847", "UMLS:C4072848"], "information_content": 95.4}
{"id": "HP:0006160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular metacarpals", "equivalent_identifiers": ["HP:0006160", "UMLS:C4025086"], "information_content": 100.0}
{"id": "MONDO:0011911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniolenticulosutural dysplasia", "equivalent_identifiers": ["MONDO:0011911", "DOID:0070307", "OMIM:607812", "orphanet:50814", "UMLS:C1843042", "MESH:C564332", "SNOMEDCT:725100001", "medgen:334671", "icd11.foundation:970423180"], "information_content": 100.0}
{"id": "HP:0005336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Forehead hyperpigmentation", "equivalent_identifiers": ["HP:0005336", "UMLS:C1969673"], "information_content": 95.4}
{"id": "HP:0008808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High iliac wing", "equivalent_identifiers": ["HP:0008808", "UMLS:C1969680"], "information_content": 100.0}
{"id": "HP:0007648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate cataract", "equivalent_identifiers": ["HP:0007648", "UMLS:C0271165", "UMLS:C1969675", "SNOMEDCT:40714009"], "information_content": 88.2}
{"id": "HP:0008444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior wedging of vertebral bodies", "equivalent_identifiers": ["HP:0008444", "UMLS:C1969679"], "information_content": 100.0}
{"id": "MONDO:0007498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ear exostoses", "equivalent_identifiers": ["MONDO:0007498", "OMIM:128300", "UMLS:C0155411", "MEDDRA:10015689", "SNOMEDCT:19560007", "medgen:56363", "HP:0004459"], "information_content": 100.0}
{"id": "HP:0030788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impacted cerumen", "equivalent_identifiers": ["HP:0030788", "UMLS:C0021092", "UMLS:C0259769", "MEDDRA:10021511", "MEDDRA:10021513", "MEDDRA:10050337", "SNOMEDCT:18070006"], "information_content": 100.0}
{"id": "MONDO:0002181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exostosis", "equivalent_identifiers": ["MONDO:0002181", "DOID:203", "UMLS:C0015302", "UMLS:C1442903", "UMLS:C1956089", "MESH:D005096", "MESH:D054850", "MEDDRA:10006012", "MEDDRA:10015688", "MEDDRA:10015692", "MEDDRA:10050016", "MEDDRA:10087696", "NCIT:C139151", "NCIT:C3029", "SNOMEDCT:235231000119100", "SNOMEDCT:416189003", "SNOMEDCT:80400009", "SNOMEDCT:88998003", "medgen:257035", "ICD10:M27.8", "ICD9:726.91", "HP:0100777"], "information_content": 82.6}
{"id": "MONDO:0859520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex IV deficiency, nuclear type 23", "equivalent_identifiers": ["MONDO:0859520", "DOID:0070485", "OMIM:620275", "UMLS:C5830322", "medgen:1840958"], "information_content": 100.0}
{"id": "MONDO:0032642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development", "equivalent_identifiers": ["MONDO:0032642", "OMIM:618265", "orphanet:565858", "UMLS:C4748872", "medgen:1648372"], "information_content": 100.0}
{"id": "MONDO:0014943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)", "equivalent_identifiers": ["MONDO:0014943", "DOID:0080337", "OMIM:617156", "UMLS:C4310690", "medgen:934657"], "information_content": 100.0}
{"id": "MONDO:0022330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "4-hydroxyphenylacetic aciduria", "equivalent_identifiers": ["MONDO:0022330", "UMLS:C1848680", "MESH:C535315", "medgen:376417", "HP:0003607"], "information_content": 100.0}
{"id": "MONDO:0014549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 6", "equivalent_identifiers": ["MONDO:0014549", "OMIM:616248", "UMLS:C4015686", "medgen:864123"], "information_content": 100.0}
{"id": "MONDO:0011565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metabolic syndrome X", "equivalent_identifiers": ["MONDO:0011565", "DOID:14221", "OMIM:605552", "EFO:0000195", "UMLS:C1854178", "UMLS:C1970051", "UMLS:C4552048", "MESH:D024821", "SNOMEDCT:237602007", "medgen:1640883", "ICD10:E88.81", "ICD9:277.7"], "information_content": 100.0}
{"id": "MONDO:0007718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic adenomas, familial", "equivalent_identifiers": ["MONDO:0007718", "DOID:0111366", "OMIM:142330", "UMLS:C1840646", "MESH:C564190", "medgen:374515"], "information_content": 100.0}
{"id": "MONDO:0008487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Androgen excess", "equivalent_identifiers": ["MONDO:0008487", "DOID:11612", "DOID:11613", "OMIM:184700", "EFO:0000660", "EFO:0009006", "UMLS:C0032460", "UMLS:C0206081", "UMLS:C0235461", "UMLS:C1136382", "UMLS:C1295651", "MESH:D011085", "MESH:D017588", "MEDDRA:10036049", "MEDDRA:10036050", "MEDDRA:10041971", "MEDDRA:10065161", "MEDDRA:10065597", "MEDDRA:10073188", "MEDDRA:10073199", "NCIT:C113215", "NCIT:C26862", "SNOMEDCT:131074001", "SNOMEDCT:237055002", "SNOMEDCT:237793004", "SNOMEDCT:69878008", "SNOMEDCT:781067001", "medgen:10836", "icd11.foundation:1213633323", "ICD10:E28.2", "ICD9:256.4", "HP:0000147"], "information_content": 90.9}
{"id": "MONDO:0018902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatocellular adenoma", "equivalent_identifiers": ["MONDO:0018902", "DOID:0050868", "orphanet:54272", "EFO:0000762", "UMLS:C0206669", "MESH:D018248", "MEDDRA:10001235", "MEDDRA:10019629", "MEDDRA:10019827", "NCIT:C3758", "SNOMEDCT:1156419009", "SNOMEDCT:424263008", "SNOMEDCT:78058005", "medgen:61655", "icd11.foundation:1481070735", "HP:0012028"], "information_content": 84.2}
{"id": "MONDO:0020603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked chondrodysplasia punctata 2", "equivalent_identifiers": ["MONDO:0020603", "DOID:0080352", "OMIM:302960", "orphanet:35173", "UMLS:C0282102", "MEDDRA:10084050", "SNOMEDCT:398719004", "SNOMEDCT:398958000", "medgen:79381"], "information_content": 100.0}
{"id": "HP:0004241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stippled calcification in carpal bones", "equivalent_identifiers": ["HP:0004241", "UMLS:C1844846"], "information_content": 100.0}
{"id": "HP:0008131", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tarsal stippling", "equivalent_identifiers": ["HP:0008131", "UMLS:C1844848"], "information_content": 100.0}
{"id": "HP:0002832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcific stippling", "equivalent_identifiers": ["HP:0002832", "UMLS:C1849993"], "information_content": 95.4}
{"id": "HP:0100556", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemiatrophy", "equivalent_identifiers": ["HP:0100556", "UMLS:C0333662", "SNOMEDCT:34087007"], "information_content": 90.9}
{"id": "HP:0008420", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate vertebral calcifications", "equivalent_identifiers": ["HP:0008420", "UMLS:C4024678"], "information_content": 100.0}
{"id": "MONDO:0014448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperthyroxinemia, familial dysalbuminemic", "equivalent_identifiers": ["MONDO:0014448", "OMIM:615999", "UMLS:C0342185", "UMLS:C5543652", "MESH:D050010", "NCIT:C131813", "SNOMEDCT:237547004", "medgen:90974"], "information_content": 100.0}
{"id": "HP:0033076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating free T4 concentration", "equivalent_identifiers": ["HP:0033076", "UMLS:C5421590"], "information_content": 92.8}
{"id": "HP:0033077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating free T4 concentration", "equivalent_identifiers": ["HP:0033077", "UMLS:C5421591"], "information_content": 100.0}
{"id": "MONDO:0013228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylo-megaepiphyseal-metaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0013228", "OMIM:613330", "orphanet:228387", "UMLS:C2750066", "MESH:C567639", "SNOMEDCT:773693005", "medgen:412869"], "information_content": 100.0}
{"id": "HP:0031096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed vertebral ossification", "equivalent_identifiers": ["HP:0031096", "UMLS:C4476967"], "information_content": 100.0}
{"id": "HP:0010580", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged epiphyses", "equivalent_identifiers": ["HP:0010580", "UMLS:C1833328"], "information_content": 73.1}
{"id": "MONDO:0013271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome", "equivalent_identifiers": ["MONDO:0013271", "DOID:0081047", "OMIM:613456", "orphanet:306542", "UMLS:C3150706", "medgen:462056"], "information_content": 100.0}
{"id": "MONDO:0019149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholesteryl ester storage disease", "equivalent_identifiers": ["MONDO:0019149", "DOID:14502", "OMIM:278000", "orphanet:75234", "UMLS:C0008384", "MESH:D015217", "MEDDRA:10077268", "SNOMEDCT:57218003", "medgen:40266", "icd11.foundation:894336362"], "information_content": 100.0}
{"id": "MONDO:0006795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypersplenism", "equivalent_identifiers": ["MONDO:0006795", "DOID:6376", "EFO:1000975", "UMLS:C0020532", "MESH:D006971", "MEDDRA:10020769", "NCIT:C34714", "SNOMEDCT:58381000", "medgen:9372", "icd11.foundation:2093549625", "ICD10:D73.1", "ICD9:289.4", "HP:0001971"], "information_content": 89.4}
{"id": "HP:0031205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced lysosomal acid lipase activity", "equivalent_identifiers": ["HP:0031205", "UMLS:C4531280"], "information_content": 100.0}
{"id": "HP:0034029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic foam cells", "equivalent_identifiers": ["HP:0034029", "UMLS:C5558397"], "information_content": 100.0}
{"id": "HP:0010512", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal calcification", "equivalent_identifiers": ["HP:0010512", "UMLS:C0271750", "MEDDRA:10073212", "SNOMEDCT:12286000"], "information_content": 100.0}
{"id": "MONDO:0012105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatosis with polyangiitis", "equivalent_identifiers": ["MONDO:0012105", "DOID:12132", "OMIM:608710", "orphanet:900", "EFO:0005297", "UMLS:C3495801", "UMLS:C4050407", "MESH:D014890", "MEDDRA:10047888", "MEDDRA:10047889", "MEDDRA:10072579", "MEDDRA:10072580", "NCIT:C123111", "NCIT:C3444", "SNOMEDCT:195353004", "medgen:811223", "icd11.foundation:1020056159", "ICD10:M31.3", "ICD9:446.4"], "information_content": 95.4}
{"id": "HP:0032979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemosiderin-laden macrophages in bronchoalveolar fluid", "equivalent_identifiers": ["HP:0032979", "UMLS:C5397971"], "information_content": 100.0}
{"id": "MONDO:0019540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse alveolar hemorrhage", "equivalent_identifiers": ["MONDO:0019540", "orphanet:90060", "UMLS:C4476767", "MEDDRA:10090404", "MEDDRA:10090406", "SNOMEDCT:829972004", "medgen:1381751", "HP:0025420"], "information_content": 100.0}
{"id": "MONDO:0002128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mononeuritis multiplex", "equivalent_identifiers": ["MONDO:0002128", "DOID:1835", "UMLS:C0151295", "MEDDRA:10027911", "NCIT:C70938", "SNOMEDCT:30292005", "medgen:101790", "icd11.foundation:1838368265", "ICD10:G58.7", "ICD9:354.5", "HP:0032018"], "information_content": 100.0}
{"id": "HP:0002955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Granulomatosis", "equivalent_identifiers": ["HP:0002955", "NCIT:C113754", "UMLS:C0521173", "SNOMEDCT:443138004", "SNOMEDCT:44328006"], "information_content": 85.5}
{"id": "HP:0034920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal mucosa vasculitis", "equivalent_identifiers": ["HP:0034920", "UMLS:C5826769"], "information_content": 100.0}
{"id": "HP:0032229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perinuclear antineutrophil antibody positivity", "equivalent_identifiers": ["HP:0032229", "UMLS:C5139209"], "information_content": 95.4}
{"id": "MONDO:0001439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episcleritis", "equivalent_identifiers": ["MONDO:0001439", "DOID:12124", "UMLS:C0014583", "UMLS:C0155351", "MEDDRA:10015084", "MEDDRA:10015085", "MEDDRA:10015086", "NCIT:C112189", "SNOMEDCT:31166000", "SNOMEDCT:815008", "medgen:509926", "icd11.foundation:2091821028", "ICD10:H15.11", "ICD9:379.01", "HP:0100534"], "information_content": 100.0}
{"id": "HP:0100758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gangrene", "equivalent_identifiers": ["HP:0100758", "EFO:0008574", "NCIT:C50573", "UMLS:C0017086", "MEDDRA:10017711", "MEDDRA:10017718", "SNOMEDCT:36024000", "SNOMEDCT:372070002", "MESH:D005734"], "information_content": 100.0}
{"id": "HP:0032230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cytoplasmic antineutrophil antibody positivity", "equivalent_identifiers": ["HP:0032230", "UMLS:C5139210"], "information_content": 92.8}
{"id": "HP:0032990", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Localized pulmonary hemorrhage", "equivalent_identifiers": ["HP:0032990", "UMLS:C5397981"], "information_content": 100.0}
{"id": "MONDO:0030476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 10", "equivalent_identifiers": ["MONDO:0030476", "OMIM:619609", "UMLS:C5562020", "medgen:1794230"], "information_content": 100.0}
{"id": "MONDO:0009609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylcobalamin deficiency type cblG", "equivalent_identifiers": ["MONDO:0009609", "DOID:0050733", "DOID:0112256", "OMIM:250940", "orphanet:2170", "EFO:0005597", "UMLS:C1855128", "UMLS:C4303500", "MESH:C565394", "SNOMEDCT:721187005", "medgen:344426"], "information_content": 100.0}
{"id": "HP:0040126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating vitamin B12 concentration", "equivalent_identifiers": ["HP:0040126", "UMLS:C4021032"], "information_content": 77.1}
{"id": "HP:0040087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood folate concentration", "equivalent_identifiers": ["HP:0040087", "UMLS:C4021037"], "information_content": 92.8}
{"id": "MONDO:0014018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 54", "equivalent_identifiers": ["MONDO:0014018", "DOID:0110806", "OMIM:615033", "orphanet:320380", "UMLS:C3539495", "SNOMEDCT:723824005", "medgen:761341"], "information_content": 100.0}
{"id": "MONDO:0008518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calcaneonavicular coalition", "equivalent_identifiers": ["MONDO:0008518", "DOID:14762", "OMIM:186400", "UMLS:C1876184", "MESH:C538156", "SNOMEDCT:62628008", "medgen:360296"], "information_content": 100.0}
{"id": "HP:0003048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial head subluxation", "equivalent_identifiers": ["HP:0003048", "UMLS:C0149977", "MEDDRA:10073750", "SNOMEDCT:417109008", "SNOMEDCT:95854004"], "information_content": 95.4}
{"id": "HP:0005880", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpophalangeal synostosis", "equivalent_identifiers": ["HP:0005880", "UMLS:C4025117"], "information_content": 88.2}
{"id": "MONDO:0007765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperostosis cranialis interna", "equivalent_identifiers": ["MONDO:0007765", "OMIM:144755", "orphanet:443098", "UMLS:C1840404", "UMLS:C4280468", "UMLS:C4280469", "UMLS:C4280470", "UMLS:C4280471", "UMLS:C4280472", "MESH:C564168", "SNOMEDCT:1217210001", "medgen:327093", "HP:0005890"], "information_content": 100.0}
{"id": "HP:0005746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteosclerosis of the base of the skull", "equivalent_identifiers": ["HP:0005746", "UMLS:C4021624"], "information_content": 92.8}
{"id": "MONDO:0007064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "equivalent_identifiers": ["MONDO:0007064", "DOID:5810", "OMIM:102700", "orphanet:277", "UMLS:C0268124", "UMLS:C0392607", "UMLS:C1863236", "UMLS:C1863239", "MESH:C531816", "MEDDRA:10066367", "MEDDRA:10066372", "NCIT:C3962", "SNOMEDCT:22406001", "SNOMEDCT:44940001", "medgen:354935", "ICD10:D81.30"], "information_content": 100.0}
{"id": "HP:0005424", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent specific antibody response", "equivalent_identifiers": ["HP:0005424", "UMLS:C1863246"], "information_content": 100.0}
{"id": "HP:0034829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal cortical sclerosis", "equivalent_identifiers": ["HP:0034829", "UMLS:C5826690"], "information_content": 100.0}
{"id": "HP:0031233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal inferior border of scapula", "equivalent_identifiers": ["HP:0031233", "UMLS:C3806511"], "information_content": 100.0}
{"id": "HP:0031164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Growth arrest lines", "equivalent_identifiers": ["HP:0031164", "UMLS:C1399128"], "information_content": 100.0}
{"id": "HP:0030273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced red cell adenosine deaminase level", "equivalent_identifiers": ["HP:0030273", "UMLS:C4022544"], "information_content": 100.0}
{"id": "MONDO:0014938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia 3", "equivalent_identifiers": ["MONDO:0014938", "OMIM:617142", "UMLS:C4310695", "medgen:934662"], "information_content": 100.0}
{"id": "MONDO:0011135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "superior transverse scapular ligament, calcification of, familial", "equivalent_identifiers": ["MONDO:0011135", "OMIM:601708", "UMLS:C1866424", "MESH:C566638", "medgen:355711"], "information_content": 100.0}
{"id": "HP:0011989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic ossification in ligament tissue", "equivalent_identifiers": ["HP:0011989", "UMLS:C4023094"], "information_content": 100.0}
{"id": "HP:0012216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Entrapment neuropathy of suprascapular nerve", "equivalent_identifiers": ["HP:0012216", "UMLS:C0393890", "SNOMEDCT:230635000"], "information_content": 100.0}
{"id": "MONDO:0030893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, progressive, infantile-onset, with or without deafness", "equivalent_identifiers": ["MONDO:0030893", "OMIM:619147", "UMLS:C5542996", "medgen:1779519"], "information_content": 100.0}
{"id": "HP:0012595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild proteinuria", "equivalent_identifiers": ["HP:0012595", "UMLS:C4022832"], "information_content": 100.0}
{"id": "HP:0040209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF biopterin level", "equivalent_identifiers": ["HP:0040209", "UMLS:C4073157"], "information_content": 100.0}
{"id": "MONDO:0012271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesoaxial synostotic syndactyly with phalangeal reduction", "equivalent_identifiers": ["MONDO:0012271", "OMIM:609432", "orphanet:157801", "UMLS:C1836206", "MESH:C563721", "SNOMEDCT:724170007", "medgen:324459"], "information_content": 100.0}
{"id": "HP:0009161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the middle phalanx of the 5th finger", "equivalent_identifiers": ["HP:0009161", "UMLS:C1834034"], "information_content": 92.8}
{"id": "HP:0009177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal/middle symphalangism of 5th finger", "equivalent_identifiers": ["HP:0009177", "UMLS:C1836212"], "information_content": 100.0}
{"id": "HP:0008362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the hallux", "equivalent_identifiers": ["HP:0008362", "UMLS:C1836213"], "information_content": 83.6}
{"id": "HP:0006097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-4 finger osseus syndactyly", "equivalent_identifiers": ["HP:0006097", "UMLS:C1856889"], "information_content": 88.2}
{"id": "HP:0010064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism affecting the phalanges of the hallux", "equivalent_identifiers": ["HP:0010064", "UMLS:C1836216"], "information_content": 90.9}
{"id": "HP:0009568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the middle phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009568", "UMLS:C1862144"], "information_content": 92.8}
{"id": "MONDO:0030482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 84, autosomal recessive", "equivalent_identifiers": ["MONDO:0030482", "DOID:0112347", "OMIM:619621", "orphanet:631079", "EFO:0020858", "UMLS:C5562025", "medgen:1794235"], "information_content": 100.0}
{"id": "HP:0008969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leg muscle stiffness", "equivalent_identifiers": ["HP:0008969", "UMLS:C4024610"], "information_content": 100.0}
{"id": "HP:0010873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical spinal cord atrophy", "equivalent_identifiers": ["HP:0010873", "UMLS:C0742191"], "information_content": 100.0}
{"id": "MONDO:0012426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 25", "equivalent_identifiers": ["MONDO:0012426", "DOID:0060007", "DOID:0111942", "OMIM:610163", "UMLS:C1857798", "MESH:C565712", "medgen:346666"], "information_content": 100.0}
{"id": "HP:0030167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antimitochondrial antibody positivity", "equivalent_identifiers": ["HP:0030167", "UMLS:C4021051"], "information_content": 100.0}
{"id": "HP:0004385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protracted diarrhea", "equivalent_identifiers": ["HP:0004385", "UMLS:C0473133", "SNOMEDCT:236077008"], "information_content": 100.0}
{"id": "MONDO:0011395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 3", "equivalent_identifiers": ["MONDO:0011395", "DOID:0111013", "OMIM:604116", "UMLS:C1858806", "MESH:C565827", "medgen:349030"], "information_content": 100.0}
{"id": "HP:0007994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral visual field loss", "equivalent_identifiers": ["HP:0007994", "UMLS:C0241688", "UMLS:C2937228", "MEDDRA:10045145", "MEDDRA:10045178", "MEDDRA:10047526", "SNOMEDCT:420990001"], "information_content": 100.0}
{"id": "HP:0007984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Electronegative electroretinogram", "equivalent_identifiers": ["HP:0007984", "UMLS:C4021561"], "information_content": 100.0}
{"id": "MONDO:0013679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sclerosteosis 2", "equivalent_identifiers": ["MONDO:0013679", "DOID:0060757", "OMIM:614305", "UMLS:C3280402", "medgen:482032"], "information_content": 100.0}
{"id": "MONDO:0017845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia", "equivalent_identifiers": ["MONDO:0017845", "DOID:0050952", "OMIM.PS:108600", "orphanet:316226", "UMLS:C1849156", "MESH:C564815", "MEDDRA:10073037", "medgen:376528", "HP:0002497"], "information_content": 81.7}
{"id": "HP:0001293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cranial nerve compression", "equivalent_identifiers": ["HP:0001293", "UMLS:C0521670", "SNOMEDCT:95664006"], "information_content": 88.2}
{"id": "MONDO:0010039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sonoda syndrome", "equivalent_identifiers": ["MONDO:0010039", "OMIM:270460", "orphanet:1355", "UMLS:C0796162", "MESH:C536680", "SNOMEDCT:715987000", "medgen:167108"], "information_content": 100.0}
{"id": "MONDO:0014553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tenorio syndrome", "equivalent_identifiers": ["MONDO:0014553", "OMIM:616260", "UMLS:C4015710", "medgen:864147"], "information_content": 100.0}
{"id": "MONDO:0000948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xerophthalmia", "equivalent_identifiers": ["MONDO:0000948", "DOID:10138", "UMLS:C0022575", "UMLS:C0043349", "UMLS:C2930821", "MESH:C531719", "MESH:D014985", "MEDDRA:10023350", "MEDDRA:10043166", "MEDDRA:10048221", "MEDDRA:10060861", "NCIT:C34503", "SNOMEDCT:302896008", "SNOMEDCT:363677007", "medgen:9620", "ICD10:E50.7", "ICD9:375.15", "HP:0001097"], "information_content": 95.4}
{"id": "MONDO:0010620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypouricemia, familial renal, due to tubular hypersecretion", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010620", "OMIM:307830", "UMLS:C1843972", "MESH:C564405", "medgen:334869"], "information_content": 100.0}
{"id": "MONDO:0012256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 28", "equivalent_identifiers": ["MONDO:0012256", "DOID:0110779", "OMIM:609340", "orphanet:101008", "UMLS:C1836295", "MESH:C563732", "SNOMEDCT:763376002", "medgen:332174"], "information_content": 100.0}
{"id": "MONDO:0009822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otoonychoperoneal syndrome", "equivalent_identifiers": ["MONDO:0009822", "OMIM:259780", "orphanet:2793", "UMLS:C1850105", "UMLS:C2711794", "MESH:C564912", "SNOMEDCT:441944007", "medgen:376704"], "information_content": 100.0}
{"id": "HP:0011247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent superior crus of antihelix", "equivalent_identifiers": ["HP:0011247", "UMLS:C4021188"], "information_content": 100.0}
{"id": "HP:0006492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the fibula", "equivalent_identifiers": ["HP:0006492", "UMLS:C1856732"], "information_content": 88.2}
{"id": "HP:0006587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Straight clavicles", "equivalent_identifiers": ["HP:0006587", "UMLS:C4025016"], "information_content": 100.0}
{"id": "MONDO:0010172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VACTERL with hydrocephalus", "equivalent_identifiers": ["MONDO:0010172", "OMIM:276950", "orphanet:3412", "UMLS:C1848599", "UMLS:C1848600", "UMLS:C2749240", "MESH:C564751", "MESH:C564752", "medgen:376400", "icd11.foundation:1646268729"], "information_content": 95.4}
{"id": "MONDO:0030805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 49", "equivalent_identifiers": ["MONDO:0030805", "OMIM:619806", "orphanet:631106", "UMLS:C5676950", "medgen:1805601"], "information_content": 100.0}
{"id": "MONDO:0008219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pemphigus vulgaris", "equivalent_identifiers": ["MONDO:0008219", "DOID:0060851", "OMIM:169610", "orphanet:704", "EFO:0004719", "UMLS:C0030809", "UMLS:C1868502", "MESH:C536645", "MEDDRA:10052802", "NCIT:C34910", "SNOMEDCT:49420001", "medgen:10621", "icd11.foundation:278358681", "ICD10:L10.0"], "information_content": 95.4}
{"id": "HP:0030057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autoimmune antibody positivity", "equivalent_identifiers": ["HP:0030057", "UMLS:C4022660"], "information_content": 62.6}
{"id": "MONDO:0056822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotonia congenita", "equivalent_identifiers": ["MONDO:0056822", "OMIM:205000", "UMLS:C0002735", "SNOMEDCT:63135006", "medgen:8042"], "information_content": 100.0}
{"id": "OMIM:613495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 5", "equivalent_identifiers": ["OMIM:613495", "UMLS:C3150740"]}
{"id": "MONDO:0013060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive Parkinson disease 14", "equivalent_identifiers": ["MONDO:0013060", "DOID:0060900", "OMIM:612953", "orphanet:199351", "UMLS:C2751842", "MESH:C567844", "NCIT:C201519", "SNOMEDCT:720466001", "medgen:414488"], "information_content": 100.0}
{"id": "HP:0025387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pill-rolling tremor", "equivalent_identifiers": ["HP:0025387", "UMLS:C0751564", "MEDDRA:10056445", "SNOMEDCT:112108005"], "information_content": 100.0}
{"id": "HP:0006892", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontotemporal cerebral atrophy", "equivalent_identifiers": ["HP:0006892", "UMLS:C4021584"], "information_content": 100.0}
{"id": "HP:0000658", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eyelid apraxia", "equivalent_identifiers": ["HP:0000658", "UMLS:C1142448", "MEDDRA:10058958", "SNOMEDCT:423142006"], "information_content": 95.4}
{"id": "HP:0002530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axial dystonia", "equivalent_identifiers": ["HP:0002530", "UMLS:C1836149"], "information_content": 100.0}
{"id": "HP:0031833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypometric upward saccades", "equivalent_identifiers": ["HP:0031833", "UMLS:C4703563"], "information_content": 100.0}
{"id": "HP:0007351", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb postural tremor", "equivalent_identifiers": ["HP:0007351", "UMLS:C1867138"], "information_content": 100.0}
{"id": "MONDO:0007624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flynn-Aird syndrome", "equivalent_identifiers": ["MONDO:0007624", "OMIM:136300", "orphanet:2047", "UMLS:C0343108", "MESH:C537066", "SNOMEDCT:239056006", "medgen:91009"], "information_content": 100.0}
{"id": "HP:0005700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased bone density with cystic changes", "equivalent_identifiers": ["HP:0005700", "UMLS:C4025151"], "information_content": 100.0}
{"id": "MONDO:0012432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 5", "equivalent_identifiers": ["MONDO:0012432", "DOID:0111000", "OMIM:610188", "UMLS:C1857780", "MESH:C537688", "medgen:347545"], "information_content": 100.0}
{"id": "HP:0006817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the cerebellar vermis", "equivalent_identifiers": ["HP:0006817", "UMLS:C1855676", "UMLS:C3280770"], "information_content": 85.5}
{"id": "HP:0000803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal cortical cysts", "equivalent_identifiers": ["HP:0000803", "UMLS:C1969144"], "information_content": 95.4}
{"id": "HP:0004727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired renal concentrating ability", "equivalent_identifiers": ["HP:0004727", "UMLS:C1859819"], "information_content": 100.0}
{"id": "MONDO:0010526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fabry disease", "equivalent_identifiers": ["MONDO:0010526", "DOID:14499", "OMIM:301500", "orphanet:324", "UMLS:C0002986", "UMLS:C1970820", "UMLS:C5960004", "MESH:C567062", "MESH:D000795", "MEDDRA:10002458", "MEDDRA:10016016", "MEDDRA:10071118", "NCIT:C84701", "SNOMEDCT:124464003", "SNOMEDCT:16652001", "medgen:8083", "icd11.foundation:66996647", "ICD10:E75.21", "HP:0001071"], "information_content": 100.0}
{"id": "MONDO:0003143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiokeratoma", "equivalent_identifiers": ["MONDO:0003143", "DOID:479", "UMLS:C0002985", "UMLS:C0346075", "MESH:D000794", "MEDDRA:10052166", "MEDDRA:10061639", "NCIT:C2874", "NCIT:C4488", "SNOMEDCT:254788004", "SNOMEDCT:26810009", "medgen:1542", "icd11.foundation:533651286", "HP:0001014"], "information_content": 88.2}
{"id": "HP:0012702", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tenesmus", "equivalent_identifiers": ["HP:0012702", "NCIT:C60661", "UMLS:C0232726", "MEDDRA:10012109", "MEDDRA:10021728", "MEDDRA:10038076", "MEDDRA:10057071", "SNOMEDCT:267053000", "SNOMEDCT:302770003", "SNOMEDCT:6548007"], "information_content": 84.2}
{"id": "HP:0033595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating globotriaosylceramide concentration", "equivalent_identifiers": ["HP:0033595", "UMLS:C5539707"], "information_content": 100.0}
{"id": "HP:0005144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular septal hypertrophy", "equivalent_identifiers": ["HP:0005144", "UMLS:C0344955", "UMLS:C1845019", "SNOMEDCT:111027004"], "information_content": 100.0}
{"id": "HP:0034864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased alpha-galactosidase A activity", "equivalent_identifiers": ["HP:0034864", "UMLS:C5826719"], "information_content": 100.0}
{"id": "HP:0032567", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lipiduria", "equivalent_identifiers": ["HP:0032567", "UMLS:C0392178", "MEDDRA:10024602", "SNOMEDCT:102849002"], "information_content": 100.0}
{"id": "HP:0032568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary mulberry cells", "equivalent_identifiers": ["HP:0032568", "UMLS:C5209287"], "information_content": 100.0}
{"id": "MONDO:0007564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pilomatrixoma", "equivalent_identifiers": ["MONDO:0007564", "DOID:5374", "OMIM:132600", "orphanet:91414", "EFO:0009082", "UMLS:C0206711", "MESH:D018296", "MEDDRA:10035040", "NCIT:C7368", "SNOMEDCT:274901004", "SNOMEDCT:44155009", "medgen:61666", "icd11.foundation:378820295", "HP:0030434"], "information_content": 89.4}
{"id": "OMIM:305000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-Linked Dyskeratosis Congenita", "equivalent_identifiers": ["OMIM:305000", "UMLS:C1148551", "UMLS:C1846142", "UMLS:C3806774", "MESH:C536068", "NCIT:C126352", "SNOMEDCT:707276009", "SNOMEDCT:708536001"], "information_content": 100.0}
{"id": "HP:0005212", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anal mucosal leukoplakia", "equivalent_identifiers": ["HP:0005212", "UMLS:C1844632"], "information_content": 100.0}
{"id": "HP:0001809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Split nail", "equivalent_identifiers": ["HP:0001809", "UMLS:C0263530", "MEDDRA:10056537", "MEDDRA:10056549", "SNOMEDCT:85136002"], "information_content": 100.0}
{"id": "MONDO:0044704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oropharynx squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0044704", "orphanet:500478", "UMLS:C0280313", "MEDDRA:10031112", "NCIT:C8181", "SNOMEDCT:423464009", "SNOMEDCT:707585008", "medgen:76094", "icd11.foundation:839740136", "HP:0012182"], "information_content": 74.7}
{"id": "HP:0007427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticulated skin pigmentation", "equivalent_identifiers": ["HP:0007427", "UMLS:C3279575", "UMLS:C3279601"], "information_content": 95.4}
{"id": "MONDO:0007664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 1, open angle, A", "equivalent_identifiers": ["MONDO:0007664", "OMIM:137750", "UMLS:C1842028", "MESH:C564234", "medgen:333974"], "information_content": 100.0}
{"id": "HP:0007905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal iris vasculature", "equivalent_identifiers": ["HP:0007905", "UMLS:C3275963"], "information_content": 90.9}
{"id": "MONDO:0030953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2", "equivalent_identifiers": ["MONDO:0030953", "DOID:0112358", "OMIM:619184", "UMLS:C5543057", "medgen:1782253"], "information_content": 100.0}
{"id": "HP:0011062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Misalignment of incisors", "equivalent_identifiers": ["HP:0011062", "UMLS:C4023556", "UMLS:C4280343"], "information_content": 86.3}
{"id": "MONDO:0011962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometrial cancer", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0011962", "DOID:1380", "OMIM:608089", "EFO:0004230", "UMLS:C0007103", "MEDDRA:10014742", "MEDDRA:10014760", "NCIT:C27815", "SNOMEDCT:188192002", "medgen:2840", "ICD10:C54.1", "KEGG.DISEASE:05213"], "information_content": 62.0}
{"id": "MONDO:0002447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometrial carcinoma", "equivalent_identifiers": ["MONDO:0002447", "DOID:2871", "EFO:1001512", "UMLS:C0476089", "MEDDRA:10007063", "MEDDRA:10007342", "MEDDRA:10014733", "MEDDRA:10014735", "MEDDRA:10014743", "NCIT:C7558", "SNOMEDCT:254878006", "medgen:96903", "icd11.foundation:1123821211", "HP:0012114"], "information_content": 62.5}
{"id": "MONDO:0014423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to DNA-PKcs deficiency", "equivalent_identifiers": ["MONDO:0014423", "DOID:0111961", "OMIM:615966", "orphanet:317425", "UMLS:C4014833", "UMLS:C4274221", "NCIT:C176795", "SNOMEDCT:716871006", "medgen:863270"], "information_content": 100.0}
{"id": "HP:0012176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal natural killer cell morphology", "equivalent_identifiers": ["HP:0012176", "UMLS:C4021098"], "information_content": 76.0}
{"id": "MONDO:0010386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 33", "equivalent_identifiers": ["MONDO:0010386", "DOID:0112003", "OMIM:300636", "orphanet:319612", "UMLS:C1845117", "UMLS:C1970879", "MESH:C536289", "medgen:370376"], "information_content": 100.0}
{"id": "HP:0032283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disseminated nontuberculous mycobacterial infection", "equivalent_identifiers": ["HP:0032283", "UMLS:C5139240"], "information_content": 100.0}
{"id": "HP:0020102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pneumocystis jirovecii pneumonia", "equivalent_identifiers": ["HP:0020102"], "information_content": 100.0}
{"id": "MONDO:0010381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tn Syndrome", "equivalent_identifiers": ["MONDO:0010381", "DOID:0080520", "OMIM:300622", "UMLS:C0272137", "MESH:C562719", "SNOMEDCT:40387008", "medgen:82896"], "information_content": 100.0}
{"id": "HP:0001877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal erythrocyte morphology", "equivalent_identifiers": ["HP:0001877", "UMLS:C0391870", "MEDDRA:10000202", "MEDDRA:10015253", "MEDDRA:10015268", "MEDDRA:10015269", "MEDDRA:10037921", "MEDDRA:10038146", "MEDDRA:10061548", "SNOMEDCT:12222001"], "information_content": 60.1}
{"id": "MONDO:0008695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorea-acanthocytosis", "equivalent_identifiers": ["MONDO:0008695", "DOID:0050766", "OMIM:200150", "orphanet:2388", "UMLS:C0393576", "MEDDRA:10081506", "SNOMEDCT:66881004", "medgen:98277"], "information_content": 100.0}
{"id": "MONDO:0002420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tic disorder", "equivalent_identifiers": ["MONDO:0002420", "DOID:2769", "UMLS:C0040188", "UMLS:C0278076", "UMLS:C2169806", "MESH:D013981", "MESH:D020323", "MEDDRA:10043833", "MEDDRA:10043834", "MEDDRA:10043835", "MEDDRA:10043849", "NCIT:C116758", "SNOMEDCT:386783003", "SNOMEDCT:402732001", "SNOMEDCT:568005", "medgen:853666", "ICD10:F95", "ICD9:307.20", "HP:0100033"], "information_content": 89.4}
{"id": "HP:0007326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive choreoathetosis", "equivalent_identifiers": ["HP:0007326", "UMLS:C1860216"], "information_content": 100.0}
{"id": "HP:0008767", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Self-mutilation of tongue and lips due to involuntary movements", "equivalent_identifiers": ["HP:0008767", "UMLS:C1860219"], "information_content": 100.0}
{"id": "MONDO:0800027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, diffuse hereditary, with spheroids 1", "equivalent_identifiers": ["MONDO:0800027", "DOID:0080523", "OMIM:221820", "orphanet:313808", "UMLS:C5561929", "MESH:C580150", "NCIT:C153289", "SNOMEDCT:702427005", "medgen:1794139"], "information_content": 100.0}
{"id": "HP:0033051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired executive functioning", "equivalent_identifiers": ["HP:0033051", "UMLS:C4544271", "SNOMEDCT:736317001"], "information_content": 88.2}
{"id": "HP:0034381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central nervous system axonal spheroid", "equivalent_identifiers": ["HP:0034381", "UMLS:C5706199"], "information_content": 100.0}
{"id": "MONDO:0014426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nanophthalmos 4", "equivalent_identifiers": ["MONDO:0014426", "OMIM:615972", "UMLS:C4014848", "medgen:863285"], "information_content": 100.0}
{"id": "MONDO:0958226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, porphyria-related", "equivalent_identifiers": ["MONDO:0958226", "OMIM:620711", "UMLS:C5935575", "medgen:1862491"], "information_content": 100.0}
{"id": "MONDO:0007848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant keratitis", "equivalent_identifiers": ["MONDO:0007848", "DOID:0111383", "OMIM:148190", "orphanet:2334", "UMLS:C1835698", "MESH:C537022", "SNOMEDCT:715339004", "medgen:332039", "icd11.foundation:682617640"], "information_content": 100.0}
{"id": "MONDO:0031332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thrombasthenia", "equivalent_identifiers": ["MONDO:0031332", "DOID:2219", "OMIM:273800", "MESH:D013915", "NCIT:C61249", "SNOMEDCT:32942005"], "information_content": 100.0}
{"id": "HP:0011873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal platelet count", "equivalent_identifiers": ["HP:0011873", "UMLS:C0580317", "MEDDRA:10035526", "MEDDRA:10035527", "MEDDRA:10043545", "SNOMEDCT:165558001"], "information_content": 74.6}
{"id": "MONDO:0100326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thrombasthenia", "equivalent_identifiers": ["MONDO:0100326", "OMIM.PS:273800", "orphanet:849", "UMLS:C0040015", "UMLS:C4021767", "MEDDRA:10018303", "MEDDRA:10019905", "MEDDRA:10043529", "MEDDRA:10043543", "medgen:52736", "icd11.foundation:1927726560", "HP:0001975"], "information_content": 92.8}
{"id": "MONDO:0014870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NEK9-related lethal skeletal dysplasia", "equivalent_identifiers": ["MONDO:0014870", "OMIM:617022", "orphanet:464366", "UMLS:C5568141", "SNOMEDCT:1179299005", "medgen:1799564"], "information_content": 100.0}
{"id": "MONDO:0009625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diencephalic-mesencephalic junction dysplasia syndrome 1", "equivalent_identifiers": ["MONDO:0009625", "OMIM:251280", "UMLS:C1855055", "UMLS:C4538630", "MESH:C537546", "medgen:1615973"], "information_content": 100.0}
{"id": "OMIM:613244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8", "equivalent_identifiers": ["OMIM:613244", "UMLS:C2750471", "MESH:C567685"]}
{"id": "HP:0006716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hereditary nonpolyposis colorectal carcinoma", "equivalent_identifiers": ["HP:0006716", "EFO:0009911", "UMLS:C4024989"], "information_content": 100.0}
{"id": "MONDO:0010056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, type IV", "equivalent_identifiers": ["MONDO:0010056", "DOID:0050529", "OMIM:271150", "orphanet:83420", "UMLS:C0270765", "UMLS:C1838230", "MESH:C563948", "MEDDRA:10068209", "MEDDRA:10079414", "SNOMEDCT:85505000", "medgen:325364", "icd11.foundation:443229384", "ICD10:G12.1"], "information_content": 100.0}
{"id": "HP:0009050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quadriceps muscle atrophy", "equivalent_identifiers": ["HP:0009050", "UMLS:C4024603", "SNOMEDCT:719183007"], "information_content": 95.4}
{"id": "HP:0034045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angulated muscle fibers", "equivalent_identifiers": ["HP:0034045", "UMLS:C5233187"], "information_content": 100.0}
{"id": "MONDO:0002422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adamantinoma", "equivalent_identifiers": ["MONDO:0002422", "DOID:2775", "DOID:2776", "OMIM:102660", "orphanet:55881", "UMLS:C0334556", "MESH:C562741", "MESH:D050398", "NCIT:C7644", "SNOMEDCT:307609003", "SNOMEDCT:56763007", "medgen:83163", "icd11.foundation:2013322169", "HP:0034525"], "information_content": 95.4}
{"id": "MONDO:0032773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uridine-cytidineuria", "equivalent_identifiers": ["MONDO:0032773", "OMIM:618477", "UMLS:C4760647", "medgen:1681582"], "information_content": 100.0}
{"id": "HP:0032573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary cytidine", "equivalent_identifiers": ["HP:0032573", "UMLS:C5397600"], "information_content": 100.0}
{"id": "HP:0032574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary uridine level", "equivalent_identifiers": ["HP:0032574", "UMLS:C5397601"], "information_content": 100.0}
{"id": "MONDO:0060591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency, developmental delay, and hypohomocysteinemia", "equivalent_identifiers": ["MONDO:0060591", "OMIM:617744", "UMLS:C4540293", "medgen:1616061"], "information_content": 100.0}
{"id": "HP:0020222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypohomocysteinemia", "equivalent_identifiers": ["HP:0020222", "UMLS:C4540295"], "information_content": 100.0}
{"id": "HP:0012101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum creatinine", "equivalent_identifiers": ["HP:0012101", "UMLS:C0428282", "MEDDRA:10038214", "MEDDRA:10040232", "SNOMEDCT:166715006"], "information_content": 95.4}
{"id": "HP:0500152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocystinemia", "equivalent_identifiers": ["HP:0500152", "UMLS:C4732906"], "information_content": 100.0}
{"id": "MONDO:0859231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin", "equivalent_identifiers": ["MONDO:0859231", "OMIM:619769", "UMLS:C5676928", "medgen:1802903"], "information_content": 100.0}
{"id": "MONDO:0000740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large adenoids", "equivalent_identifiers": ["MONDO:0000740", "DOID:0060311", "UMLS:C0149825", "UMLS:C0455938", "MEDDRA:10001229", "SNOMEDCT:111591002", "SNOMEDCT:276442006", "medgen:628857", "ICD10:J35.2", "ICD9:474.12", "HP:0040261"], "information_content": 100.0}
{"id": "MONDO:0012095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-brachydactyly-Pierre Robin syndrome", "equivalent_identifiers": ["MONDO:0012095", "OMIM:608670", "orphanet:364577", "UMLS:C1837564", "MESH:C563880", "medgen:325196"], "information_content": 100.0}
{"id": "HP:0010752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft mandible", "equivalent_identifiers": ["HP:0010752", "NCIT:C124512", "UMLS:C0685786", "SNOMEDCT:92822004"], "information_content": 100.0}
{"id": "HP:0009246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanx of the 5th finger", "equivalent_identifiers": ["HP:0009246", "UMLS:C4024501"], "information_content": 100.0}
{"id": "HP:0002711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exaggerated median tongue furrow", "equivalent_identifiers": ["HP:0002711", "UMLS:C1845109"], "information_content": 100.0}
{"id": "MONDO:0032766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoalphalipoproteinemia, primary, 2", "equivalent_identifiers": ["MONDO:0032766", "DOID:0080958", "OMIM:618463", "UMLS:C5551172", "medgen:1789263"], "information_content": 95.4}
{"id": "MONDO:0007812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis, lamellar, autosomal dominant", "equivalent_identifiers": ["MONDO:0007812", "OMIM:146750", "UMLS:C0432304", "MESH:C537263", "SNOMEDCT:254164007", "medgen:98486"], "information_content": 100.0}
{"id": "MONDO:0060711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jaberi-Elahi syndrome", "equivalent_identifiers": ["MONDO:0060711", "OMIM:617988", "UMLS:C4693848", "medgen:1647359"], "information_content": 100.0}
{"id": "MONDO:0010503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease type 5", "equivalent_identifiers": ["MONDO:0010503", "DOID:0110147", "OMIM:300971", "orphanet:570371", "UMLS:C4310820", "medgen:934787"], "information_content": 100.0}
{"id": "MONDO:0014060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive retinal dystrophy due to retinol transport defect", "equivalent_identifiers": ["MONDO:0014060", "OMIM:615147", "orphanet:352718", "UMLS:C3554593", "medgen:767507"], "information_content": 100.0}
{"id": "HP:0040137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Comedonal acne", "equivalent_identifiers": ["HP:0040137", "UMLS:C0406481", "UMLS:C4022418", "UMLS:C4477027", "MEDDRA:10000500", "SNOMEDCT:238744006"], "information_content": 100.0}
{"id": "HP:0031032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased retinol-binding protein level", "equivalent_identifiers": ["HP:0031032", "UMLS:C4476920"], "information_content": 100.0}
{"id": "MONDO:0010549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "equivalent_identifiers": ["MONDO:0010549", "DOID:0110209", "OMIM:302800", "orphanet:101075", "UMLS:C0393808", "MESH:C535919", "NCIT:C129068", "SNOMEDCT:763455008", "medgen:98290"], "information_content": 100.0}
{"id": "HP:0002427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broca's Aphasia", "equivalent_identifiers": ["HP:0002427", "NCIT:C34394", "UMLS:C0003550", "UMLS:C0917814", "MEDDRA:10002949", "MEDDRA:10006378", "MEDDRA:10015713", "MEDDRA:10015714", "SNOMEDCT:229654003", "SNOMEDCT:229665008", "SNOMEDCT:328681008", "MESH:D001039"], "information_content": 100.0}
{"id": "MONDO:0008379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 10", "equivalent_identifiers": ["MONDO:0008379", "DOID:0110388", "OMIM:180105", "UMLS:C1867299", "MESH:C566715", "medgen:357247"], "information_content": 100.0}
{"id": "HP:0031609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Geographic atrophy", "equivalent_identifiers": ["HP:0031609", "EFO:1001492", "UMLS:C1536085", "MEDDRA:10063947", "MEDDRA:10067792", "MESH:D057092"], "information_content": 100.0}
{"id": "MONDO:0024558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radioulnar synostosis with amegakaryocytic thrombocytopenia 1", "equivalent_identifiers": ["MONDO:0024558", "OMIM:605432", "UMLS:C4551975", "medgen:1637913"], "information_content": 100.0}
{"id": "HP:0005037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal radio-ulnar synostosis", "equivalent_identifiers": ["HP:0005037", "UMLS:C2676443"], "information_content": 100.0}
{"id": "HP:0004859", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amegakaryocytic thrombocytopenia", "equivalent_identifiers": ["HP:0004859", "UMLS:C0398639", "MEDDRA:10076744", "SNOMEDCT:234482009"], "information_content": 100.0}
{"id": "MONDO:0012555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 3", "equivalent_identifiers": ["MONDO:0012555", "DOID:0080507", "OMIM:610759", "UMLS:C1853099", "medgen:339902"], "information_content": 100.0}
{"id": "HP:0030820", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hooded eyelid", "equivalent_identifiers": ["HP:0030820", "UMLS:C3277348"], "information_content": 92.8}
{"id": "HP:0010750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermatochalasis", "equivalent_identifiers": ["HP:0010750", "UMLS:C0423124", "UMLS:C2674149", "MEDDRA:10012493", "SNOMEDCT:246815009"], "information_content": 100.0}
{"id": "MONDO:0011797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile-onset ascending hereditary spastic paralysis", "equivalent_identifiers": ["MONDO:0011797", "OMIM:607225", "orphanet:293168", "UMLS:C2931441", "MESH:C537217", "SNOMEDCT:703543005", "medgen:419413"], "information_content": 100.0}
{"id": "HP:0002492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal corticospinal tract morphology", "equivalent_identifiers": ["HP:0002492", "UMLS:C4020852", "UMLS:C4025704"], "information_content": 83.1}
{"id": "HP:0002425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anarthria", "equivalent_identifiers": ["HP:0002425", "UMLS:C0234517", "MEDDRA:10086957", "SNOMEDCT:48257004"], "information_content": 100.0}
{"id": "MONDO:0012217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bruck syndrome 2", "equivalent_identifiers": ["MONDO:0012217", "OMIM:609220", "UMLS:C1836602", "MESH:C537407", "medgen:373129"], "information_content": 100.0}
{"id": "HP:6001098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal undermodelling", "equivalent_identifiers": ["HP:6001098", "UMLS:C5970416"], "information_content": 100.0}
{"id": "HP:6000807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical C6/C7 vertebrae fusion", "equivalent_identifiers": ["HP:6000807", "UMLS:C5937533"], "information_content": 100.0}
{"id": "MONDO:0014577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 13 with or without polydactyly", "equivalent_identifiers": ["MONDO:0014577", "DOID:0110093", "OMIM:616300", "UMLS:C4225378", "medgen:898712"], "information_content": 100.0}
{"id": "HP:0011315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unicoronal synostosis", "equivalent_identifiers": ["HP:0011315", "UMLS:C4020756", "UMLS:C4023418"], "information_content": 92.8}
{"id": "HP:0011340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incomplete cleft of the upper lip", "equivalent_identifiers": ["HP:0011340", "UMLS:C4021158"], "information_content": 95.4}
{"id": "MONDO:0033618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vissers-Bodmer syndrome", "equivalent_identifiers": ["MONDO:0033618", "DOID:0081397", "OMIM:619033", "UMLS:C5436647", "medgen:1776566"], "information_content": 100.0}
{"id": "HP:0040195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small head", "equivalent_identifiers": ["HP:0040195", "UMLS:C0424688", "SNOMEDCT:271611007"], "information_content": 82.1}
{"id": "MONDO:0012394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple synostoses syndrome 2", "equivalent_identifiers": ["MONDO:0012394", "DOID:0081318", "OMIM:610017", "UMLS:C1832708", "MESH:C537380", "medgen:331348"], "information_content": 100.0}
{"id": "MONDO:0008511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal symphalangism", "equivalent_identifiers": ["MONDO:0008511", "DOID:0050788", "OMIM.PS:185800", "orphanet:3250", "UMLS:C1861385", "MESH:C536223", "SNOMEDCT:1162837001", "medgen:348856", "icd11.foundation:49802338", "KEGG.DISEASE:H00484", "HP:0100264"], "information_content": 83.1}
{"id": "MONDO:0010844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia, multiple, 2", "equivalent_identifiers": ["MONDO:0010844", "DOID:0070298", "OMIM:600204", "UMLS:C1838429", "MESH:C535502", "medgen:333092"], "information_content": 100.0}
{"id": "HP:0009804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tooth agenesis", "equivalent_identifiers": ["HP:0009804", "NCIT:C172328", "UMLS:C4024202", "UMLS:C4083050", "MEDDRA:10089767"], "information_content": 75.3}
{"id": "HP:0100694", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial torsion", "equivalent_identifiers": ["HP:0100694", "UMLS:C0426900", "MEDDRA:10064515", "SNOMEDCT:249785006"], "information_content": 92.8}
{"id": "HP:0025238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot pain", "equivalent_identifiers": ["HP:0025238", "NCIT:C34618", "UMLS:C0016512", "MEDDRA:10016974", "MEDDRA:10033400", "MEDDRA:10033429", "SNOMEDCT:47933007"], "information_content": 95.4}
{"id": "HP:0005715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened knee epiphyses", "equivalent_identifiers": ["HP:0005715", "UMLS:C4025150"], "information_content": 100.0}
{"id": "MONDO:0030684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 27 without anosmia", "equivalent_identifiers": ["MONDO:0030684", "OMIM:619755", "UMLS:C5676921", "medgen:1810165"], "information_content": 100.0}
{"id": "HP:0020159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced response to gonadotropin-releasing hormone stimulation test", "equivalent_identifiers": ["HP:0020159", "UMLS:C5209252"], "information_content": 100.0}
{"id": "HP:0005348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inspiratory stridor", "equivalent_identifiers": ["HP:0005348", "UMLS:C0677600", "MEDDRA:10042242", "SNOMEDCT:58596002"], "information_content": 90.9}
{"id": "HP:0012318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Occipital neuralgia", "equivalent_identifiers": ["HP:0012318", "UMLS:C0007863", "MEDDRA:10068106", "SNOMEDCT:71760005"], "information_content": 100.0}
{"id": "MONDO:0013661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined malonic and methylmalonic acidemia", "equivalent_identifiers": ["MONDO:0013661", "DOID:0111263", "OMIM:614265", "orphanet:289504", "UMLS:C3280314", "MESH:C580002", "SNOMEDCT:702365002", "medgen:481944"], "information_content": 100.0}
{"id": "MONDO:0012391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "equivalent_identifiers": ["MONDO:0012391", "DOID:0110724", "OMIM:610003", "orphanet:1947", "orphanet:530298", "UMLS:C1864923", "medgen:355328"], "information_content": 100.0}
{"id": "MONDO:0007895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platyspondylic dysplasia, Torrance type", "equivalent_identifiers": ["MONDO:0007895", "DOID:0111508", "OMIM:151210", "orphanet:85166", "UMLS:C1835437", "MESH:C563627", "medgen:331974", "icd11.foundation:263213426"], "information_content": 100.0}
{"id": "HP:0005451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased cranial base ossification", "equivalent_identifiers": ["HP:0005451", "UMLS:C1835442"], "information_content": 100.0}
{"id": "HP:0200083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe limb shortening", "equivalent_identifiers": ["HP:0200083", "UMLS:C1835446"], "information_content": 100.0}
{"id": "HP:0008452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wafer-thin platyspondyly", "equivalent_identifiers": ["HP:0008452", "UMLS:C1865124"], "information_content": 100.0}
{"id": "HP:0004591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disc-like vertebral bodies", "equivalent_identifiers": ["HP:0004591", "UMLS:C1835444"], "information_content": 100.0}
{"id": "HP:0005716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lethal skeletal dysplasia", "equivalent_identifiers": ["HP:0005716", "UMLS:C4021626"], "information_content": 100.0}
{"id": "HP:0008921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal short-limb short stature", "equivalent_identifiers": ["HP:0008921", "UMLS:C1850171"], "information_content": 100.0}
{"id": "OMIM:606661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2", "equivalent_identifiers": ["OMIM:606661", "UMLS:C1847723"]}
{"id": "MONDO:0014582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 2C", "equivalent_identifiers": ["MONDO:0014582", "DOID:0110680", "OMIM:616314", "UMLS:C4225373", "medgen:903254"], "information_content": 100.0}
{"id": "MONDO:0010121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia-absent radius syndrome", "equivalent_identifiers": ["MONDO:0010121", "DOID:14699", "OMIM:274000", "orphanet:3320", "UMLS:C0175703", "MESH:C536940", "MEDDRA:10071719", "MEDDRA:10071720", "NCIT:C99038", "SNOMEDCT:85589009", "medgen:61235"], "information_content": 100.0}
{"id": "HP:0030137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged bleeding following circumcision", "equivalent_identifiers": ["HP:0030137", "UMLS:C4022611"], "information_content": 100.0}
{"id": "HP:0006507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia of the humerus", "equivalent_identifiers": ["HP:0006507", "UMLS:C4025031"], "information_content": 89.4}
{"id": "HP:0100327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cow milk allergy", "equivalent_identifiers": ["HP:0100327", "UMLS:C0266815", "UMLS:C4758639", "UMLS:C5139416", "MEDDRA:10001745", "MEDDRA:10011240", "MEDDRA:10085306", "SNOMEDCT:15911003", "SNOMEDCT:782555009"], "information_content": 100.0}
{"id": "HP:0004717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axial malrotation of the kidney", "equivalent_identifiers": ["HP:0004717", "UMLS:C4025300"], "information_content": 100.0}
{"id": "HP:0004712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal malrotation", "equivalent_identifiers": ["HP:0004712", "UMLS:C0238210", "MEDDRA:10067877", "SNOMEDCT:49008000"], "information_content": 95.4}
{"id": "HP:0003043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal shoulder morphology", "equivalent_identifiers": ["HP:0003043", "UMLS:C4025659"], "information_content": 76.4}
{"id": "HP:0007514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Edema of hand", "equivalent_identifiers": ["HP:0007514", "UMLS:C0239819", "UMLS:C2732374", "UMLS:C2751873", "MEDDRA:10050065", "MEDDRA:10058204", "SNOMEDCT:102564009", "SNOMEDCT:443710002"], "information_content": 100.0}
{"id": "MONDO:0007955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel diverticulum", "equivalent_identifiers": ["MONDO:0007955", "DOID:9487", "OMIM:155140", "EFO:1001036", "UMLS:C0025037", "MESH:D008467", "MEDDRA:10013561", "MEDDRA:10027055", "NCIT:C12264", "SNOMEDCT:127962001", "SNOMEDCT:37373007", "medgen:9917", "icd11.foundation:216192536", "ICD10:Q43.0", "ICD9:751.0", "HP:0002245"], "information_content": 75.2}
{"id": "HP:0012098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Edema of the dorsum of feet", "equivalent_identifiers": ["HP:0012098", "UMLS:C2919341", "SNOMEDCT:445124008"], "information_content": 100.0}
{"id": "HP:0004977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral radial aplasia", "equivalent_identifiers": ["HP:0004977", "UMLS:C1848840"], "information_content": 100.0}
{"id": "MONDO:0033614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 83, autosomal recessive", "equivalent_identifiers": ["MONDO:0033614", "DOID:0112346", "OMIM:619027", "orphanet:631076", "UMLS:C5436637", "medgen:1759445"], "information_content": 100.0}
{"id": "MONDO:0032685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CASGID SYNDROME", "equivalent_identifiers": ["MONDO:0032685", "OMIM:618339", "UMLS:C5193037", "medgen:1673640"], "information_content": 100.0}
{"id": "MONDO:0011215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteocraniostenosis", "equivalent_identifiers": ["MONDO:0011215", "OMIM:602361", "orphanet:2763", "UMLS:C1865639", "MESH:C537291", "SNOMEDCT:722109008", "medgen:356331", "icd11.foundation:539409723"], "information_content": 100.0}
{"id": "HP:0006270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic spleen", "equivalent_identifiers": ["HP:0006270", "UMLS:C1970617"], "information_content": 95.4}
{"id": "MONDO:0009395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperostosis corticalis generalisata", "equivalent_identifiers": ["MONDO:0009395", "DOID:0080036", "OMIM:239100", "orphanet:3416", "UMLS:C0432272", "NCIT:C131812", "SNOMEDCT:59763006", "medgen:98484", "icd11.foundation:241514592"], "information_content": 100.0}
{"id": "HP:0007958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic atrophy from cranial nerve compression", "equivalent_identifiers": ["HP:0007958", "UMLS:C4024763"], "information_content": 100.0}
{"id": "HP:6000749", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating type I procollagen aminoterminal propeptide concentration", "equivalent_identifiers": ["HP:6000749", "UMLS:C5937477"], "information_content": 100.0}
{"id": "HP:0004437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cranial hyperostosis", "equivalent_identifiers": ["HP:0004437", "UMLS:C1832451", "UMLS:C4280528", "UMLS:C4280529", "UMLS:C4280530", "UMLS:C4280531"], "information_content": 84.2}
{"id": "MONDO:0009787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 3", "equivalent_identifiers": ["MONDO:0009787", "DOID:0110004", "OMIM:258501", "orphanet:67047", "UMLS:C0574084", "MESH:C535311", "SNOMEDCT:297232009", "medgen:108273", "icd11.foundation:535412248"], "information_content": 100.0}
{"id": "MONDO:0024564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebroretinal microangiopathy with calcifications and cysts 1", "equivalent_identifiers": ["MONDO:0024564", "OMIM:612199", "UMLS:C4552029", "medgen:1636142"], "information_content": 100.0}
{"id": "MONDO:0013212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2N", "equivalent_identifiers": ["MONDO:0013212", "DOID:0110177", "OMIM:613287", "orphanet:228174", "UMLS:C2750090", "MESH:C567653", "SNOMEDCT:719515001", "medgen:413754"], "information_content": 100.0}
{"id": "MONDO:0010226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 2", "equivalent_identifiers": ["MONDO:0010226", "DOID:0111777", "OMIM:300018", "UMLS:C1848296", "MESH:C535601", "NCIT:C202543", "medgen:341190"], "information_content": 100.0}
{"id": "MONDO:0012676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 4", "equivalent_identifiers": ["MONDO:0012676", "DOID:0110944", "OMIM:611490", "UMLS:C1969106", "MESH:C566933", "medgen:370598"], "information_content": 100.0}
{"id": "HP:0004576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic vertebral endplates", "equivalent_identifiers": ["HP:0004576", "UMLS:C4551970"], "information_content": 95.4}
{"id": "MONDO:0009507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lambert syndrome", "equivalent_identifiers": ["MONDO:0009507", "OMIM:245550", "orphanet:1296", "UMLS:C1855551", "MESH:C538396", "SNOMEDCT:732961003", "medgen:343381"], "information_content": 100.0}
{"id": "MONDO:0859266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy", "equivalent_identifiers": ["MONDO:0859266", "OMIM:619972", "UMLS:C5774185", "NCIT:C192636", "medgen:1823958"], "information_content": 100.0}
{"id": "HP:0002191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive spasticity", "equivalent_identifiers": ["HP:0002191", "UMLS:C1859520"], "information_content": 95.4}
{"id": "HP:0040010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small posterior fossa", "equivalent_identifiers": ["HP:0040010", "UMLS:C4022496"], "information_content": 95.4}
{"id": "HP:0200012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short corpus callosum", "equivalent_identifiers": ["HP:0200012", "UMLS:C4021902"], "information_content": 100.0}
{"id": "MONDO:0009296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycoprotein storage disease", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009296", "OMIM:232900", "UMLS:C0268220", "UMLS:C1856275", "MESH:C565538", "SNOMEDCT:7810004", "medgen:343516"], "information_content": 100.0}
{"id": "MONDO:0015517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common variable immunodeficiency", "equivalent_identifiers": ["MONDO:0015517", "DOID:12177", "OMIM:607594", "UMLS:C0009447", "UMLS:C3149378", "MESH:D017074", "MEDDRA:10010112", "MEDDRA:10021449", "MEDDRA:10036670", "MEDDRA:10036671", "SNOMEDCT:191010004", "ICD10:D83", "ICD9:279.06"], "information_content": 80.9}
{"id": "MONDO:0030916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 50", "equivalent_identifiers": ["MONDO:0030916", "DOID:0080233", "OMIM:617787", "UMLS:C4540470", "medgen:1616989"], "information_content": 100.0}
{"id": "MONDO:0009849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperimmunoglobulinemia D with periodic fever", "equivalent_identifiers": ["MONDO:0009849", "DOID:0081450", "OMIM:260920", "orphanet:343", "UMLS:C0398691", "MEDDRA:10072010", "MEDDRA:10072011", "SNOMEDCT:403834003", "medgen:140768"], "information_content": 100.0}
{"id": "HP:0025143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chills", "equivalent_identifiers": ["HP:0025143", "NCIT:C35143", "UMLS:C0085593", "MEDDRA:10008531", "MESH:D023341"], "information_content": 76.5}
{"id": "MONDO:0043786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "serositis", "equivalent_identifiers": ["MONDO:0043786", "UMLS:C0036749", "MESH:D012700", "MEDDRA:10058556", "NCIT:C70428", "SNOMEDCT:370469003", "medgen:20711", "HP:0045073"], "information_content": 82.1}
{"id": "OMIM:615190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5", "equivalent_identifiers": ["OMIM:615190", "UMLS:C3554656", "UMLS:C3808802", "NCIT:C176928"], "information_content": 100.0}
{"id": "MONDO:0014073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1II", "equivalent_identifiers": ["MONDO:0014073", "DOID:0110450", "OMIM:615184", "UMLS:C3554649", "medgen:767563"], "information_content": 100.0}
{"id": "HP:0012665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderately reduced left ventricular ejection fraction", "equivalent_identifiers": ["HP:0012665", "UMLS:C4022791"], "information_content": 100.0}
{"id": "MONDO:0031019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 87, autosomal recessive", "equivalent_identifiers": ["MONDO:0031019", "DOID:0070456", "OMIM:619966", "orphanet:631088", "UMLS:C5774182", "medgen:1813069"], "information_content": 100.0}
{"id": "MONDO:0008512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly type 1", "equivalent_identifiers": ["MONDO:0008512", "DOID:0111816", "OMIM:185900", "orphanet:93402", "UMLS:C1861380", "MESH:C566096", "MEDDRA:10086571", "SNOMEDCT:715723008", "medgen:348343", "icd11.foundation:1841508645"], "information_content": 89.4}
{"id": "MONDO:0971010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, hereditary systemic 6", "equivalent_identifiers": ["MONDO:0971010", "OMIM:620659", "UMLS:C5935573", "medgen:1860723"], "information_content": 100.0}
{"id": "HP:0100292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amyloidosis of peripheral nerves", "equivalent_identifiers": ["HP:0100292", "UMLS:C4022162"], "information_content": 100.0}
{"id": "MONDO:0020607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liddle syndrome 1", "equivalent_identifiers": ["MONDO:0020607", "OMIM:177200"], "information_content": 100.0}
{"id": "MONDO:0014352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abdominal obesity-metabolic syndrome 3", "equivalent_identifiers": ["MONDO:0014352", "DOID:0060612", "OMIM:615812", "UMLS:C4014361", "medgen:862798"], "information_content": 100.0}
{"id": "MONDO:0006715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary stenosis", "equivalent_identifiers": ["MONDO:0006715", "DOID:4248", "UMLS:C0242231", "MESH:D023921", "MEDDRA:10011089", "NCIT:C80427", "SNOMEDCT:233970002", "medgen:66859", "HP:0005145"], "information_content": 90.9}
{"id": "MONDO:0008261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sclerosing poikiloderma, Weary type", "equivalent_identifiers": ["MONDO:0008261", "OMIM:173700", "orphanet:221039", "UMLS:C0343094", "MESH:C562824", "SNOMEDCT:238834002", "medgen:91006", "icd11.foundation:1538273632"], "information_content": 100.0}
{"id": "HP:0001029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poikiloderma", "equivalent_identifiers": ["HP:0001029", "NCIT:C53975", "UMLS:C0392777", "MEDDRA:10057041", "SNOMEDCT:402685001", "SNOMEDCT:70114006"], "information_content": 90.9}
{"id": "MONDO:0010645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocerebrorenal syndrome", "equivalent_identifiers": ["MONDO:0010645", "DOID:1056", "OMIM:309000", "orphanet:534", "UMLS:C0028860", "UMLS:C2713392", "MESH:D009800", "MEDDRA:10051707", "MEDDRA:10051754", "NCIT:C84940", "SNOMEDCT:79385002", "medgen:18145", "icd11.foundation:1392767390", "ICD10:E72.03"], "information_content": 100.0}
{"id": "HP:0004639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated amniotic fluid alpha-fetoprotein", "equivalent_identifiers": ["HP:0004639", "UMLS:C1839860"], "information_content": 100.0}
{"id": "HP:0025131", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger swelling", "equivalent_identifiers": ["HP:0025131", "UMLS:C0239598", "MEDDRA:10042694", "SNOMEDCT:299060006"], "information_content": 100.0}
{"id": "HP:0007948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dense posterior cortical cataract", "equivalent_identifiers": ["HP:0007948", "UMLS:C4024767"], "information_content": 100.0}
{"id": "MONDO:0005348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keloid", "equivalent_identifiers": ["MONDO:0005348", "EFO:0004212", "UMLS:C0022548", "MESH:D007627", "MEDDRA:10023329", "MEDDRA:10023330", "NCIT:C3145", "SNOMEDCT:33659008", "SNOMEDCT:58405006", "medgen:7197", "icd11.foundation:2057714006", "HP:0010562"], "information_content": 95.4}
{"id": "HP:6000615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000615", "UMLS:C5937370"], "information_content": 100.0}
{"id": "HP:0003646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bicarbonaturia", "equivalent_identifiers": ["HP:0003646", "UMLS:C1839865"], "information_content": 95.4}
{"id": "HP:0001225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wrist swelling", "equivalent_identifiers": ["HP:0001225", "UMLS:C0241760", "MEDDRA:10042707", "MEDDRA:10042728"], "information_content": 100.0}
{"id": "HP:0003148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated serum acid phosphatase", "equivalent_identifiers": ["HP:0003148", "UMLS:C1839866", "MEDDRA:10000478", "MEDDRA:10040119"], "information_content": 100.0}
{"id": "MONDO:0100224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex I deficiency, nuclear type 1", "equivalent_identifiers": ["MONDO:0100224", "DOID:0112074", "OMIM:252010"], "information_content": 100.0}
{"id": "HP:0007965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undetectable visual evoked potentials", "equivalent_identifiers": ["HP:0007965", "UMLS:C1850069"], "information_content": 100.0}
{"id": "HP:0007183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal T2 hyperintense basal ganglia lesion", "equivalent_identifiers": ["HP:0007183", "UMLS:C1865351", "UMLS:C4024926"], "information_content": 95.4}
{"id": "HP:0012752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal T2 hypointense basal ganglia lesion", "equivalent_identifiers": ["HP:0012752", "UMLS:C4022744"], "information_content": 100.0}
{"id": "HP:0006965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute necrotizing encephalopathy", "equivalent_identifiers": ["HP:0006965", "UMLS:C1855020"], "information_content": 100.0}
{"id": "MONDO:0060704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures", "equivalent_identifiers": ["MONDO:0060704", "OMIM:617977", "UMLS:C4693816", "medgen:1633724"], "information_content": 100.0}
{"id": "MONDO:0031083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 77", "equivalent_identifiers": ["MONDO:0031083", "DOID:0070576", "OMIM:620103", "UMLS:C5774245", "medgen:1824018"], "information_content": 100.0}
{"id": "HP:0030087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating testosterone concentration", "equivalent_identifiers": ["HP:0030087", "UMLS:C0580454", "UMLS:C4022654", "SNOMEDCT:166458009"], "information_content": 88.2}
{"id": "MONDO:0011381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dominant beta-thalassemia", "equivalent_identifiers": ["MONDO:0011381", "DOID:0080770", "OMIM:603902", "orphanet:231226", "UMLS:C1858990", "MESH:C565834", "SNOMEDCT:716682000", "medgen:347036"], "information_content": 100.0}
{"id": "HP:0045048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased HbA2 hemoglobin", "equivalent_identifiers": ["HP:0045048", "UMLS:C4073172"], "information_content": 100.0}
{"id": "HP:0025547", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased mean corpuscular hemoglobin concentration", "equivalent_identifiers": ["HP:0025547", "UMLS:C0427437", "MEDDRA:10026972", "MEDDRA:10026995", "MEDDRA:10026998", "MEDDRA:10055621", "MEDDRA:10056188", "SNOMEDCT:165439008"], "information_content": 100.0}
{"id": "HP:0020080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythrocyte inclusion bodies", "equivalent_identifiers": ["HP:0020080"], "information_content": 90.9}
{"id": "MONDO:0009412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scurvy", "equivalent_identifiers": ["MONDO:0009412", "DOID:13577", "DOID:13724", "OMIM:240400", "EFO:1000822", "EFO:1001169", "UMLS:C0003969", "UMLS:C0036474", "UMLS:C1855867", "UMLS:C5574898", "UMLS:C5887116", "MESH:C565486", "MESH:D001206", "MESH:D012614", "MEDDRA:10003454", "MEDDRA:10039768", "MEDDRA:10047623", "NCIT:C35010", "SNOMEDCT:76169001", "medgen:20684", "icd11.foundation:708602629", "ICD10:E54", "HP:0100510"], "information_content": 100.0}
{"id": "MONDO:0007569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema nodosum, familial", "equivalent_identifiers": ["MONDO:0007569", "OMIM:132990", "UMLS:C1851503", "MESH:C535510", "medgen:377045"], "information_content": 100.0}
{"id": "MONDO:0010228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 3", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010228", "DOID:0111736", "OMIM:300030", "UMLS:C3888089", "MESH:C564727", "medgen:854758"], "information_content": 100.0}
{"id": "MONDO:0007502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ear pits, posterior helical", "equivalent_identifiers": ["MONDO:0007502", "OMIM:128710", "UMLS:C1851900", "UMLS:C3276675", "medgen:342119"], "information_content": 100.0}
{"id": "MONDO:0009481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jumping Frenchmen of Maine", "equivalent_identifiers": ["MONDO:0009481", "OMIM:244100", "UMLS:C1280764", "SNOMEDCT:267414004", "medgen:224824"], "information_content": 100.0}
{"id": "MONDO:0013387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 7", "equivalent_identifiers": ["MONDO:0013387", "DOID:0080462", "OMIM:613720", "orphanet:439218", "UMLS:C3150986", "NCIT:C192087", "medgen:462336"], "information_content": 100.0}
{"id": "MONDO:0014141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14", "equivalent_identifiers": ["MONDO:0014141", "DOID:0112377", "OMIM:615351", "UMLS:C3809221", "medgen:815551"], "information_content": 100.0}
{"id": "MONDO:0008588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GENIOSPASM 1", "equivalent_identifiers": ["MONDO:0008588", "OMIM:190100", "orphanet:53372", "UMLS:C1860972", "UMLS:C2931589", "MESH:C537682", "MEDDRA:10086622", "SNOMEDCT:718103001", "medgen:348757", "HP:0012462"], "information_content": 100.0}
{"id": "MONDO:0020853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalitis/encephalopathy, mild, with reversible myelin vacuolization", "equivalent_identifiers": ["MONDO:0020853", "OMIM:618113", "UMLS:C4722446", "medgen:1648328"], "information_content": 100.0}
{"id": "MONDO:0009337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hennekam lymphangiectasia-lymphedema syndrome 1", "equivalent_identifiers": ["MONDO:0009337", "OMIM:235510", "UMLS:C4012050", "medgen:860487"], "information_content": 100.0}
{"id": "MONDO:0018178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal lymphangiectasia", "equivalent_identifiers": ["MONDO:0018178", "orphanet:36204", "UMLS:C0024215", "MESH:D008201", "MEDDRA:10025213", "SNOMEDCT:197260007", "medgen:9828", "icd11.foundation:1255239964", "HP:0002593"], "information_content": 92.8}
{"id": "HP:0005183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pericardial lymphangiectasia", "equivalent_identifiers": ["HP:0005183", "UMLS:C1856140"], "information_content": 100.0}
{"id": "HP:0006531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pleural lymphangiectasia", "equivalent_identifiers": ["HP:0006531", "UMLS:C1856139"], "information_content": 100.0}
{"id": "HP:0006521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary lymphangiectasia", "equivalent_identifiers": ["HP:0006521", "UMLS:C1855480", "MEDDRA:10073661"], "information_content": 100.0}
{"id": "HP:0008229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyroid lymphangiectasia", "equivalent_identifiers": ["HP:0008229", "UMLS:C1856129"], "information_content": 100.0}
{"id": "OMIM:617234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16", "equivalent_identifiers": ["OMIM:617234", "UMLS:C4310659"]}
{"id": "HP:0032479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Preimplantation lethality", "equivalent_identifiers": ["HP:0032479", "UMLS:C5139371"], "information_content": 100.0}
{"id": "MONDO:0010140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated thyrotropin-releasing hormone deficiency", "equivalent_identifiers": ["MONDO:0010140", "OMIM:275120", "orphanet:238670", "UMLS:C0220998", "UMLS:C0271585", "UMLS:C3887992", "MEDDRA:10090557", "NCIT:C121741", "SNOMEDCT:10736002", "SNOMEDCT:37429009", "medgen:113137", "HP:0008237"], "information_content": 100.0}
{"id": "MONDO:0020848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopetrosis, autosomal dominant 3", "equivalent_identifiers": ["MONDO:0020848", "OMIM:618107", "UMLS:C4748197", "medgen:1648454"], "information_content": 100.0}
{"id": "MONDO:0014819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Robinow syndrome 3", "equivalent_identifiers": ["MONDO:0014819", "DOID:0060767", "OMIM:616894", "UMLS:C4225164", "medgen:907878"], "information_content": 100.0}
{"id": "MONDO:0020291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplastic right heart syndrome", "equivalent_identifiers": ["MONDO:0020291", "DOID:0070315", "orphanet:98723", "UMLS:C0265856", "UMLS:C0344963", "MEDDRA:10050053", "MEDDRA:10064962", "NCIT:C99053", "SNOMEDCT:268180007", "SNOMEDCT:39589002", "medgen:83376", "ICD10:Q22.6", "HP:0010954"], "information_content": 90.9}
{"id": "MONDO:0013556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 4", "equivalent_identifiers": ["MONDO:0013556", "DOID:0060542", "OMIM:614073", "UMLS:C3484357", "medgen:483344"], "information_content": 100.0}
{"id": "MONDO:0020714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy", "equivalent_identifiers": ["MONDO:0020714", "OMIM:251900", "UMLS:C5193007", "UMLS:C5193223", "medgen:1679560"], "information_content": 100.0}
{"id": "MONDO:0030047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, developmental delay, and brittle hair syndrome", "equivalent_identifiers": ["MONDO:0030047", "OMIM:618891", "UMLS:C5394425", "medgen:1718781"], "information_content": 100.0}
{"id": "HP:0004684", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talipes valgus", "equivalent_identifiers": ["HP:0004684", "UMLS:C0152236", "MEDDRA:10043108", "SNOMEDCT:79807003"], "information_content": 100.0}
{"id": "MONDO:0859198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies", "equivalent_identifiers": ["MONDO:0859198", "OMIM:619557", "UMLS:C5561998", "medgen:1794208"], "information_content": 100.0}
{"id": "HP:0000387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent earlobe", "equivalent_identifiers": ["HP:0000387", "UMLS:C1849364"], "information_content": 100.0}
{"id": "MONDO:0010535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bazex-Dupre-Christol syndrome", "equivalent_identifiers": ["MONDO:0010535", "OMIM:301845", "orphanet:113", "orphanet:166113", "UMLS:C0346104", "UMLS:C0406355", "MESH:C537663", "MEDDRA:10065247", "SNOMEDCT:238640007", "SNOMEDCT:254820002", "medgen:87539"], "information_content": 95.4}
{"id": "MONDO:0020593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichoblastoma", "equivalent_identifiers": ["MONDO:0020593", "UMLS:C0349658", "MEDDRA:10015106", "MEDDRA:10044610", "MEDDRA:10063951", "NCIT:C27132", "SNOMEDCT:274898000", "SNOMEDCT:277942005", "SNOMEDCT:59186007", "SNOMEDCT:878881002", "medgen:138112", "icd11.foundation:1414797713", "HP:0025367"], "information_content": 84.8}
{"id": "MONDO:0021013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clastothrix", "equivalent_identifiers": ["MONDO:0021013", "DOID:0050528", "OMIM:234050", "UMLS:C0263485", "UMLS:C0702164", "UMLS:C1313961", "UMLS:C3495483", "UMLS:C4083251", "MESH:C536556", "MEDDRA:10044626", "NCIT:C146899", "SNOMEDCT:22486004", "SNOMEDCT:238736006", "SNOMEDCT:403796005", "medgen:272036", "HP:0009886"], "information_content": 100.0}
{"id": "MONDO:0012880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 5 with or without anosmia", "equivalent_identifiers": ["MONDO:0012880", "DOID:0090084", "OMIM:612370", "UMLS:C2675302", "UMLS:C3552553", "MESH:C567220", "medgen:765467"], "information_content": 100.0}
{"id": "MONDO:0007787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ambras syndrome", "equivalent_identifiers": ["MONDO:0007787", "DOID:0111060", "OMIM:145701", "orphanet:1023", "UMLS:C1840362", "MESH:C536605", "medgen:333542", "ICD10:Q84.2"], "information_content": 100.0}
{"id": "MONDO:0013864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 4", "equivalent_identifiers": ["MONDO:0013864", "DOID:0080508", "OMIM:614701", "UMLS:C3553517", "medgen:766431"], "information_content": 100.0}
{"id": "HP:0000381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stapes ankylosis", "equivalent_identifiers": ["HP:0000381", "UMLS:C1861326"], "information_content": 95.4}
{"id": "HP:0033785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enamel agenesis", "equivalent_identifiers": ["HP:0033785", "UMLS:C5442008"], "information_content": 100.0}
{"id": "HP:0002678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skull asymmetry", "equivalent_identifiers": ["HP:0002678", "UMLS:C0424690", "UMLS:C4280562", "UMLS:C4280563", "SNOMEDCT:248372000"], "information_content": 100.0}
{"id": "MONDO:0012013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GEMSS syndrome", "equivalent_identifiers": ["MONDO:0012013", "OMIM:608328", "orphanet:2084", "UMLS:C1869115", "UMLS:C2931588", "MESH:C537679", "SNOMEDCT:722450007", "medgen:358388"], "information_content": 100.0}
{"id": "HP:0100693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iridodonesis", "equivalent_identifiers": ["HP:0100693", "UMLS:C0423320", "MEDDRA:10058357", "SNOMEDCT:118166004"], "information_content": 100.0}
{"id": "HP:0011222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depressed glabella", "equivalent_identifiers": ["HP:0011222", "UMLS:C4023455"], "information_content": 100.0}
{"id": "HP:0009768", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad phalanges of the hand", "equivalent_identifiers": ["HP:0009768", "UMLS:C4021391"], "information_content": 78.0}
{"id": "HP:0000594", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shallow anterior chamber", "equivalent_identifiers": ["HP:0000594", "UMLS:C0423276", "MEDDRA:10040532", "SNOMEDCT:246986004"], "information_content": 100.0}
{"id": "HP:0030961", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microspherophakia", "equivalent_identifiers": ["HP:0030961", "UMLS:C1562061", "SNOMEDCT:416671000", "MESH:C563255"], "information_content": 100.0}
{"id": "MONDO:0014499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 46", "equivalent_identifiers": ["MONDO:0014499", "DOID:0081210", "OMIM:616116", "UMLS:C4015283", "medgen:863720"], "information_content": 100.0}
{"id": "MONDO:0030043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type iit", "equivalent_identifiers": ["MONDO:0030043", "DOID:0051049", "OMIM:618885", "UMLS:C5394387", "medgen:1709627"], "information_content": 100.0}
{"id": "MONDO:0001281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating exotropia", "equivalent_identifiers": ["MONDO:0001281", "DOID:1142", "UMLS:C0152207", "MEDDRA:10001859", "MEDDRA:10078353", "SNOMEDCT:37214009", "medgen:101825", "icd11.foundation:1611093587", "ICD10:H50.15", "ICD9:378.15", "HP:0031717"], "information_content": 100.0}
{"id": "MONDO:0859194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Boudin-Mortier syndrome", "equivalent_identifiers": ["MONDO:0859194", "OMIM:619543", "UMLS:C5561992", "medgen:1794202"], "information_content": 100.0}
{"id": "HP:0010639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated alkaline phosphatase of bone origin", "equivalent_identifiers": ["HP:0010639", "UMLS:C1833667"], "information_content": 100.0}
{"id": "HP:0030771", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mallet finger", "equivalent_identifiers": ["HP:0030771", "UMLS:C0158473", "MEDDRA:10026710", "SNOMEDCT:64298006"], "information_content": 100.0}
{"id": "HP:0010264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphyses of the middle phalanges of the hand", "equivalent_identifiers": ["HP:0010264", "UMLS:C4023937"], "information_content": 88.2}
{"id": "HP:0010275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphyses of the proximal phalanges of the hand", "equivalent_identifiers": ["HP:0010275", "UMLS:C4023926"], "information_content": 87.2}
{"id": "HP:0010022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphysis of the 1st metacarpal", "equivalent_identifiers": ["HP:0010022", "UMLS:C4024101"], "information_content": 100.0}
{"id": "MONDO:0008957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical vertebrae, agenesis of", "equivalent_identifiers": ["MONDO:0008957", "OMIM:214290", "UMLS:C0432160", "MESH:C562952", "SNOMEDCT:1163556006", "SNOMEDCT:91880006", "medgen:140922", "HP:0008459"], "information_content": 100.0}
{"id": "HP:0000464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the neck", "equivalent_identifiers": ["HP:0000464", "UMLS:C0266623", "UMLS:C0575167", "UMLS:C4280628", "MEDDRA:10028830", "MEDDRA:10061307", "SNOMEDCT:298390003", "SNOMEDCT:40052002"], "information_content": 66.8}
{"id": "MONDO:0013381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory, type 1D", "equivalent_identifiers": ["MONDO:0013381", "DOID:0070156", "OMIM:613708", "UMLS:C3150972", "medgen:462322"], "information_content": 100.0}
{"id": "MONDO:0013552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 52", "equivalent_identifiers": ["MONDO:0013552", "DOID:0110804", "OMIM:614067", "UMLS:C3279743", "medgen:481373"], "information_content": 100.0}
{"id": "MONDO:0007278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 32 multiple types", "equivalent_identifiers": ["MONDO:0007278", "DOID:0110227", "OMIM:115650", "UMLS:C1857718", "UMLS:C3887926", "MESH:C535340", "medgen:854634", "ICD10:Q12.0"], "information_content": 100.0}
{"id": "MONDO:0006761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibromuscular dysplasia", "equivalent_identifiers": ["MONDO:0006761", "OMIM:135580", "EFO:1000938", "UMLS:C0016052", "MESH:C537929", "MESH:D005352", "MEDDRA:10054794", "NCIT:C84714", "SNOMEDCT:31653004", "SNOMEDCT:359553002", "SNOMEDCT:783729004", "medgen:4700", "HP:0005313"], "information_content": 100.0}
{"id": "MONDO:0006947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renovascular hypertension", "equivalent_identifiers": ["MONDO:0006947", "DOID:1591", "EFO:1001153", "UMLS:C0020545", "MESH:D006978", "MEDDRA:10038562", "NCIT:C85044", "SNOMEDCT:123799005", "medgen:43786", "ICD10:I15.0", "HP:0100817"], "information_content": 95.4}
{"id": "MONDO:0005295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intermittent vascular claudication", "equivalent_identifiers": ["MONDO:0005295", "DOID:3669", "EFO:0003876", "UMLS:C0021775", "MESH:D007383", "MEDDRA:10008411", "MEDDRA:10009241", "MEDDRA:10022562", "MEDDRA:10056868", "SNOMEDCT:63491006", "medgen:7115", "ICD10:I73.9", "HP:0004417"], "information_content": 100.0}
{"id": "MONDO:0008626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureter, bifid or double", "equivalent_identifiers": ["MONDO:0008626", "OMIM:191550", "UMLS:C1860586", "MESH:C566012", "medgen:348142"], "information_content": 100.0}
{"id": "MONDO:0054696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 53", "equivalent_identifiers": ["MONDO:0054696", "DOID:0111992", "OMIM:617585", "orphanet:688594", "UMLS:C4539811", "medgen:1612104"], "information_content": 100.0}
{"id": "HP:0034315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic cough", "equivalent_identifiers": ["HP:0034315", "UMLS:C0010201", "MEDDRA:10066656", "SNOMEDCT:68154008", "MESH:D000096822"], "information_content": 100.0}
{"id": "MONDO:0014797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 6", "equivalent_identifiers": ["MONDO:0014797", "OMIM:616843", "orphanet:568062", "EFO:0009153", "UMLS:C4225184", "SNOMEDCT:1222667006", "medgen:908120"], "information_content": 100.0}
{"id": "HP:0000282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial edema", "equivalent_identifiers": ["HP:0000282", "NCIT:C78289", "UMLS:C0542571", "MEDDRA:10014222", "MEDDRA:10016025", "MEDDRA:10016029", "MEDDRA:10016030", "MEDDRA:10030101", "SNOMEDCT:445088006"], "information_content": 86.3}
{"id": "HP:0031188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genital edema", "equivalent_identifiers": ["HP:0031188", "NCIT:C78324", "UMLS:C0151604", "MEDDRA:10014224", "MEDDRA:10018146", "MEDDRA:10018164", "MEDDRA:10030104", "MEDDRA:10073899", "SNOMEDCT:300891008"], "information_content": 100.0}
{"id": "MONDO:0008335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-craniofacial anomalies-genital hypoplasia syndrome", "equivalent_identifiers": ["MONDO:0008335", "OMIM:177980", "orphanet:2994", "UMLS:C1867443", "MESH:C535844", "SNOMEDCT:716090004", "medgen:357988"], "information_content": 100.0}
{"id": "HP:0012815", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic female external genitalia", "equivalent_identifiers": ["HP:0012815", "UMLS:C4022715"], "information_content": 88.2}
{"id": "HP:0001040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple pterygia", "equivalent_identifiers": ["HP:0001040", "UMLS:C1867448"], "information_content": 100.0}
{"id": "MONDO:0008212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pechet factor deficiency", "equivalent_identifiers": ["MONDO:0008212", "OMIM:169200", "UMLS:C1868545", "MESH:C566814", "medgen:358349"], "information_content": 100.0}
{"id": "MONDO:0010741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, X-linked, 1", "equivalent_identifiers": ["MONDO:0010741", "OMIM:313500", "UMLS:C1970757", "MESH:C567060", "medgen:410143"], "information_content": 100.0}
{"id": "HP:0011051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of premolar", "equivalent_identifiers": ["HP:0011051", "UMLS:C4023566", "UMLS:C4280351"], "information_content": 92.8}
{"id": "HP:0002046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heat intolerance", "equivalent_identifiers": ["HP:0002046", "UMLS:C0231274", "MEDDRA:10019339", "MEDDRA:10056596", "SNOMEDCT:69215007"], "information_content": 100.0}
{"id": "HP:0011054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of molar", "equivalent_identifiers": ["HP:0011054", "UMLS:C4021203", "UMLS:C4280348"], "information_content": 90.9}
{"id": "HP:0200153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of lateral incisor", "equivalent_identifiers": ["HP:0200153", "UMLS:C4021881", "UMLS:C4227831"], "information_content": 87.2}
{"id": "HP:0010667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the maxilla", "equivalent_identifiers": ["HP:0010667", "UMLS:C4023750", "UMLS:C4280371", "UMLS:C5967336", "SNOMEDCT:1145462006"], "information_content": 100.0}
{"id": "MONDO:0007418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DARWINIAN NOTCH", "equivalent_identifiers": ["MONDO:0007418", "OMIM:124300", "UMLS:C1852294", "UMLS:C2751189", "medgen:343772"], "information_content": 100.0}
{"id": "MONDO:0009562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-mannosidosis", "equivalent_identifiers": ["MONDO:0009562", "DOID:3633", "OMIM:248510", "orphanet:118", "UMLS:C4048196", "MESH:D044905", "NCIT:C84596", "SNOMEDCT:238047006", "medgen:888408", "icd11.foundation:1578707401"], "information_content": 100.0}
{"id": "HP:0034367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating beta-mannosidase activity", "equivalent_identifiers": ["HP:0034367", "UMLS:C5872910"], "information_content": 100.0}
{"id": "HP:0000503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tortuosity of conjunctival vessels", "equivalent_identifiers": ["HP:0000503", "UMLS:C1855391"], "information_content": 100.0}
{"id": "HP:4000205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue beta-mannosidase activity", "equivalent_identifiers": ["HP:4000205", "UMLS:C5872954", "UMLS:C5936897"], "information_content": 100.0}
{"id": "MONDO:0013977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 13", "equivalent_identifiers": ["MONDO:0013977", "DOID:0111467", "OMIM:614932", "orphanet:319514", "UMLS:C4706283", "SNOMEDCT:763110007", "medgen:1631854"], "information_content": 100.0}
{"id": "HP:0006558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased mitochondrial complex III activity in liver tissue", "equivalent_identifiers": ["HP:0006558", "UMLS:C4025022"], "information_content": 100.0}
{"id": "MONDO:0013127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 3", "equivalent_identifiers": ["MONDO:0013127", "DOID:0110087", "OMIM:613091", "orphanet:93270", "orphanet:93271", "UMLS:C0036069", "UMLS:C0432197", "MESH:C537602", "NCIT:C163755", "SNOMEDCT:254051008", "SNOMEDCT:726032008", "medgen:19860"], "information_content": 100.0}
{"id": "HP:0010454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acetabular spurs", "equivalent_identifiers": ["HP:0010454", "UMLS:C3808270"], "information_content": 95.4}
{"id": "MONDO:0009006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C2 Deficiency", "equivalent_identifiers": ["MONDO:0009006", "DOID:0060295", "OMIM:217000", "UMLS:C3150275", "NCIT:C119992", "medgen:461625", "ICD10:D84.1"], "information_content": 95.4}
{"id": "MONDO:0013972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome 2", "equivalent_identifiers": ["MONDO:0013972", "DOID:0061117", "OMIM:614926", "orphanet:642976", "UMLS:C3554105", "medgen:767019"], "information_content": 100.0}
{"id": "MONDO:0957495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature", "equivalent_identifiers": ["MONDO:0957495", "OMIM:301110", "UMLS:C5829585", "medgen:1840221"], "information_content": 100.0}
{"id": "HP:0012596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate proteinuria", "equivalent_identifiers": ["HP:0012596", "UMLS:C4022831"], "information_content": 100.0}
{"id": "HP:0001981", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schistocytosis", "equivalent_identifiers": ["HP:0001981", "UMLS:C0344386", "MEDDRA:10051835", "MEDDRA:10076534", "SNOMEDCT:385472000"], "information_content": 100.0}
{"id": "MONDO:0020729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive agammaglobulinemia 1", "equivalent_identifiers": ["MONDO:0020729", "DOID:0081136", "OMIM:601495", "UMLS:C3152144", "medgen:463494"], "information_content": 100.0}
{"id": "HP:0005224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectal abscess", "equivalent_identifiers": ["HP:0005224", "UMLS:C0149770", "UMLS:C0267566", "MEDDRA:10048947", "MEDDRA:10052814", "SNOMEDCT:197166005", "SNOMEDCT:91669008"], "information_content": 95.4}
{"id": "MONDO:0054699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 3", "equivalent_identifiers": ["MONDO:0054699", "DOID:0060916", "OMIM:617591", "UMLS:C4747850", "UMLS:C4749149", "medgen:1648456"], "information_content": 100.0}
{"id": "MONDO:0008946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral angiopathy, dysphoric", "equivalent_identifiers": ["MONDO:0008946", "OMIM:213500", "UMLS:C1859283", "MESH:C565864", "medgen:349128"], "information_content": 100.0}
{"id": "MONDO:0014159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 14", "equivalent_identifiers": ["MONDO:0014159", "DOID:0080058", "OMIM:615386", "orphanet:352403", "UMLS:C4706415", "SNOMEDCT:763351003", "medgen:1636182"], "information_content": 100.0}
{"id": "HP:0008003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jerky ocular pursuit movements", "equivalent_identifiers": ["HP:0008003", "UMLS:C1853558"], "information_content": 100.0}
{"id": "MONDO:0009253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fryns syndrome", "equivalent_identifiers": ["MONDO:0009253", "OMIM:229850", "orphanet:2059", "UMLS:C0220730", "MESH:C538070", "MEDDRA:10075223", "NCIT:C98932", "SNOMEDCT:702432006", "medgen:65088", "icd11.foundation:1327847749"], "information_content": 100.0}
{"id": "HP:0006278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic pancreatic tissue", "equivalent_identifiers": ["HP:0006278", "UMLS:C0994638", "SNOMEDCT:264304000"], "information_content": 100.0}
{"id": "HP:0007036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of olfactory tract", "equivalent_identifiers": ["HP:0007036", "UMLS:C1856655"], "information_content": 100.0}
{"id": "HP:0011039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal helix morphology", "equivalent_identifiers": ["HP:0011039", "UMLS:C1856660"], "information_content": 75.8}
{"id": "HP:0007096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the optic tract", "equivalent_identifiers": ["HP:0007096", "UMLS:C1856654"], "information_content": 100.0}
{"id": "MONDO:0009430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic rickets, autosomal recessive, 1", "equivalent_identifiers": ["MONDO:0009430", "OMIM:241520", "UMLS:C4551495", "MESH:C562792", "medgen:1632314"], "information_content": 100.0}
{"id": "MONDO:0013572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keppen-Lubinsky syndrome", "equivalent_identifiers": ["MONDO:0013572", "OMIM:614098", "orphanet:435628", "UMLS:C3279800", "SNOMEDCT:1220589007", "medgen:481430"], "information_content": 100.0}
{"id": "HP:0003292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum leptin", "equivalent_identifiers": ["HP:0003292", "UMLS:C1837802"], "information_content": 95.4}
{"id": "HP:0007485", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of subcutaneous fat", "equivalent_identifiers": ["HP:0007485", "UMLS:C0241267", "UMLS:C4024855"], "information_content": 92.8}
{"id": "HP:0009933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow naris", "equivalent_identifiers": ["HP:0009933", "UMLS:C0426436", "UMLS:C0426439", "UMLS:C1849366", "UMLS:C4280390", "SNOMEDCT:249336003", "SNOMEDCT:249339005"], "information_content": 100.0}
{"id": "MONDO:0957873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with vanishing white matter 5", "equivalent_identifiers": ["MONDO:0957873", "DOID:0070367", "OMIM:620315", "UMLS:C5779973", "medgen:1830483"], "information_content": 100.0}
{"id": "HP:6000447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF asialotransferrin to transferrin ratio", "equivalent_identifiers": ["HP:6000447", "UMLS:C5937225"], "information_content": 100.0}
{"id": "MONDO:0030018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CRIA syndrome", "equivalent_identifiers": ["MONDO:0030018", "OMIM:618852", "EFO:0010737", "UMLS:C5394286", "MEDDRA:10086727", "MEDDRA:10086729", "medgen:1719052"], "information_content": 100.0}
{"id": "MONDO:0030527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 2C, localized", "equivalent_identifiers": ["MONDO:0030527", "OMIM:619594", "UMLS:C5562011", "medgen:1794221"], "information_content": 100.0}
{"id": "HP:0025088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychomadesis", "equivalent_identifiers": ["HP:0025088", "NCIT:C78494", "UMLS:C0263540", "MEDDRA:10049274", "MEDDRA:10049281", "MEDDRA:10091272", "SNOMEDCT:22743000"], "information_content": 95.4}
{"id": "MONDO:0012743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 4", "equivalent_identifiers": ["MONDO:0012743", "DOID:0110221", "OMIM:611876", "UMLS:C2678477", "MESH:C567508", "medgen:395632"], "information_content": 100.0}
{"id": "MONDO:0010275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Bieganski type", "equivalent_identifiers": ["MONDO:0010275", "OMIM:300232", "orphanet:83629", "UMLS:C1846148", "MESH:C536671", "MESH:C567065", "medgen:335350", "icd11.foundation:1073330593"], "information_content": 100.0}
{"id": "HP:0006423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peg-like central prominence of distal tibial metaphyses", "equivalent_identifiers": ["HP:0006423", "UMLS:C1846160"], "information_content": 100.0}
{"id": "HP:0006028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal cupping of metacarpals", "equivalent_identifiers": ["HP:0006028", "UMLS:C1855171"], "information_content": 100.0}
{"id": "MONDO:0013488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis", "equivalent_identifiers": ["MONDO:0013488", "OMIM:613913", "UMLS:C3151347", "medgen:462697"], "information_content": 100.0}
{"id": "HP:0009056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of subcutaneous adipose tissue from upper limbs", "equivalent_identifiers": ["HP:0009056", "UMLS:C4024602"], "information_content": 100.0}
{"id": "HP:0000292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of facial adipose tissue", "equivalent_identifiers": ["HP:0000292", "UMLS:C1837767"], "information_content": 95.4}
{"id": "HP:0009019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive loss of facial adipose tissue", "equivalent_identifiers": ["HP:0009019", "UMLS:C1837510"], "information_content": 100.0}
{"id": "MONDO:0010716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked lethal multiple pterygium syndrome", "equivalent_identifiers": ["MONDO:0010716", "OMIM:312150", "orphanet:79447", "UMLS:C1839440", "UMLS:C4706472", "MESH:C564072", "SNOMEDCT:763462004", "medgen:374225"], "information_content": 100.0}
{"id": "HP:0005905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cervical curvature", "equivalent_identifiers": ["HP:0005905", "UMLS:C3151523"], "information_content": 92.8}
{"id": "HP:0001961", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic heart", "equivalent_identifiers": ["HP:0001961", "UMLS:C3151525"], "information_content": 80.2}
{"id": "HP:0003634", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amyoplasia", "equivalent_identifiers": ["HP:0003634", "UMLS:C0432185", "MEDDRA:10010550", "SNOMEDCT:205532005"], "information_content": 95.4}
{"id": "MONDO:0010358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic rickets, X-linked recessive", "equivalent_identifiers": ["MONDO:0010358", "DOID:0080353", "OMIM:300554", "UMLS:C1845168", "medgen:335115"], "information_content": 100.0}
{"id": "MONDO:0030012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diets-Jongmans syndrome", "equivalent_identifiers": ["MONDO:0030012", "OMIM:618846", "EFO:0010740", "UMLS:C5394263", "SNOMEDCT:1351843001", "medgen:1714920"], "information_content": 100.0}
{"id": "MONDO:0859201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with impaired language and ataxia and with or without seizures", "equivalent_identifiers": ["MONDO:0859201", "OMIM:619580", "UMLS:C5562006", "medgen:1794216"], "information_content": 100.0}
{"id": "HP:0007859", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital horizontal nystagmus", "equivalent_identifiers": ["HP:0007859", "UMLS:C4551997"], "information_content": 100.0}
{"id": "HP:0000749", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal bursts of laughter", "equivalent_identifiers": ["HP:0000749", "UMLS:C1839749"], "information_content": 100.0}
{"id": "MONDO:0012739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome", "equivalent_identifiers": ["MONDO:0012739", "OMIM:611863", "orphanet:139450", "UMLS:C2678482", "MESH:C567512", "medgen:394835"], "information_content": 100.0}
{"id": "MONDO:0009683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2H", "equivalent_identifiers": ["MONDO:0009683", "DOID:0110282", "OMIM:254110", "orphanet:1878", "UMLS:C0270968", "MESH:C535897", "SNOMEDCT:240064008", "SNOMEDCT:43226001", "medgen:78750"], "information_content": 100.0}
{"id": "HP:0008988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelvic girdle muscle atrophy", "equivalent_identifiers": ["HP:0008988", "UMLS:C0240679"], "information_content": 92.8}
{"id": "HP:0003574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive regitine blocking test", "equivalent_identifiers": ["HP:0003574", "UMLS:C4025594"], "information_content": 100.0}
{"id": "MONDO:0006797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertensive retinopathy", "equivalent_identifiers": ["MONDO:0006797", "DOID:11561", "EFO:1000977", "UMLS:C0152132", "MESH:D058437", "MEDDRA:10020839", "MEDDRA:10038926", "NCIT:C3514", "SNOMEDCT:6962006", "medgen:101819", "icd11.foundation:218513628", "ICD10:H35.03", "ICD9:362.11", "HP:0001095"], "information_content": 100.0}
{"id": "HP:0000875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic hypertension", "equivalent_identifiers": ["HP:0000875", "UMLS:C1857175"], "information_content": 100.0}
{"id": "MONDO:0030013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 66", "equivalent_identifiers": ["MONDO:0030013", "DOID:0111998", "OMIM:618847", "UMLS:C5394265", "NCIT:C203465", "medgen:1717128"], "information_content": 92.8}
{"id": "HP:0031379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal T cell proliferation", "equivalent_identifiers": ["HP:0031379", "UMLS:C4531168"], "information_content": 87.2}
{"id": "MONDO:0958185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial trifunctional protein deficiency 2", "equivalent_identifiers": ["MONDO:0958185", "DOID:0060999", "OMIM:620300", "UMLS:C5830374", "UMLS:C5830693", "medgen:1841010"], "information_content": 100.0}
{"id": "HP:4000141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left ventricular dilatation", "equivalent_identifiers": ["HP:4000141", "UMLS:C0344911", "MEDDRA:10050043", "SNOMEDCT:253541009"], "information_content": 100.0}
{"id": "HP:0031185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating NT-proBNP concentration", "equivalent_identifiers": ["HP:0031185", "UMLS:C4477024"], "information_content": 100.0}
{"id": "MONDO:0010359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dent disease 2", "equivalent_identifiers": ["MONDO:0010359", "DOID:0081454", "OMIM:300555", "orphanet:93623", "UMLS:C1845167", "MESH:C564487", "SNOMEDCT:717790004", "medgen:336867", "icd11.foundation:2053330521"], "information_content": 100.0}
{"id": "MONDO:0009371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxyisobutyric aciduria", "equivalent_identifiers": ["MONDO:0009371", "OMIM:236795", "orphanet:939", "UMLS:C0342737", "MESH:C535312", "SNOMEDCT:237957007", "medgen:90996", "icd11.foundation:1293648631"], "information_content": 100.0}
{"id": "HP:0005974", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic ketoacidosis", "equivalent_identifiers": ["HP:0005974", "UMLS:C1859860"], "information_content": 100.0}
{"id": "HP:0006906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital intracerebral calcification", "equivalent_identifiers": ["HP:0006906", "UMLS:C4024966"], "information_content": 100.0}
{"id": "MONDO:0009598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome", "equivalent_identifiers": ["MONDO:0009598", "OMIM:250410", "orphanet:166035", "UMLS:C1855188", "MESH:C565398", "medgen:381579"], "information_content": 100.0}
{"id": "HP:0033379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral superior vena cava", "equivalent_identifiers": ["HP:0033379", "UMLS:C0344659", "SNOMEDCT:253311006"], "information_content": 89.4}
{"id": "HP:6000460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic testis", "equivalent_identifiers": ["HP:6000460", "UMLS:C0302889", "MEDDRA:10059170", "SNOMEDCT:50911000"], "information_content": 100.0}
{"id": "HP:0025159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoautofluorescent retinal lesion", "equivalent_identifiers": ["HP:0025159", "UMLS:C4476624"], "information_content": 92.8}
{"id": "MONDO:0013487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recurrent Neisseria infections due to factor D deficiency", "equivalent_identifiers": ["MONDO:0013487", "OMIM:613912", "orphanet:169467", "UMLS:C0398764", "MESH:C565027", "SNOMEDCT:234607008", "medgen:97989", "icd11.foundation:528757185"], "information_content": 100.0}
{"id": "HP:0008338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial functional complement factor D deficiency", "equivalent_identifiers": ["HP:0008338", "UMLS:C4024699"], "information_content": 100.0}
{"id": "HP:0004303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal muscle fiber morphology", "equivalent_identifiers": ["HP:0004303", "UMLS:C4021663"], "information_content": 68.3}
{"id": "HP:0003750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle Fatigue", "equivalent_identifiers": ["HP:0003750", "UMLS:C0242979", "UMLS:C4025573", "MEDDRA:10049565", "SNOMEDCT:80449002", "MESH:D018763"], "information_content": 92.8}
{"id": "HP:0009071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inflammatory myopathy", "equivalent_identifiers": ["HP:0009071"], "information_content": 100.0}
{"id": "MONDO:0859202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859202", "OMIM:619595", "UMLS:C5562012", "medgen:1794222"], "information_content": 100.0}
{"id": "MONDO:0030019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anauxetic dysplasia 3", "equivalent_identifiers": ["MONDO:0030019", "DOID:0080963", "OMIM:618853", "UMLS:C5394289", "medgen:1718444"], "information_content": 100.0}
{"id": "HP:0009844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad middle phalanx of finger", "equivalent_identifiers": ["HP:0009844", "UMLS:C4021383"], "information_content": 88.2}
{"id": "HP:0003423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracolumbar kyphoscoliosis", "equivalent_identifiers": ["HP:0003423", "UMLS:C1859335"], "information_content": 100.0}
{"id": "MONDO:0957872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with vanishing white matter 4", "equivalent_identifiers": ["MONDO:0957872", "DOID:0070371", "OMIM:620314", "UMLS:C5830406", "medgen:1841042"], "information_content": 100.0}
{"id": "MONDO:0008174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachyonychia congenita 2", "equivalent_identifiers": ["MONDO:0008174", "OMIM:167210", "UMLS:C1721007", "medgen:314107"], "information_content": 100.0}
{"id": "MONDO:0000741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angular cheilitis", "equivalent_identifiers": ["MONDO:0000741", "DOID:0060312", "UMLS:C0221237", "MEDDRA:10002509", "MEDDRA:10002510", "MEDDRA:10058162", "MEDDRA:10058164", "NCIT:C112198", "SNOMEDCT:266429005", "medgen:526202", "icd11.foundation:591060439", "ICD10:K13.0", "HP:0030318"], "information_content": 100.0}
{"id": "HP:0008392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subungual hyperkeratosis", "equivalent_identifiers": ["HP:0008392", "UMLS:C0038605", "SNOMEDCT:10165000"], "information_content": 100.0}
{"id": "MONDO:0008485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sebocystomatosis", "equivalent_identifiers": ["MONDO:0008485", "DOID:0111556", "OMIM:184500", "orphanet:841", "UMLS:C0259771", "MESH:D062685", "MEDDRA:10048905", "SNOMEDCT:109433009", "medgen:75476", "HP:0012035"], "information_content": 100.0}
{"id": "MONDO:0008341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ptosis-strabismus-ectopic pupils syndrome", "equivalent_identifiers": ["MONDO:0008341", "OMIM:178330", "orphanet:2999", "UMLS:C1867437", "MESH:C566736", "medgen:356778"], "information_content": 100.0}
{"id": "MONDO:0009285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glutathionuria", "equivalent_identifiers": ["MONDO:0009285", "DOID:0111257", "OMIM:231950", "orphanet:33573", "UMLS:C0268524", "MESH:C536836", "SNOMEDCT:78586005", "medgen:82813", "icd11.foundation:2074850874"], "information_content": 100.0}
{"id": "HP:0034445", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced gamma-glutamyltransferase level", "equivalent_identifiers": ["HP:0034445", "UMLS:C5826398"], "information_content": 100.0}
{"id": "HP:6000578", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue gamma-glutamyltransferase activity", "equivalent_identifiers": ["HP:6000578", "UMLS:C5937340"], "information_content": 100.0}
{"id": "HP:0034586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glutathionuria", "equivalent_identifiers": ["HP:0034586", "UMLS:C5779509"], "information_content": 100.0}
{"id": "MONDO:0009804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 3", "equivalent_identifiers": ["MONDO:0009804", "DOID:0110339", "OMIM:259420", "orphanet:216812", "UMLS:C0268362", "MESH:C536044", "NCIT:C99002", "SNOMEDCT:385483009", "medgen:78664", "icd11.foundation:629873920"], "information_content": 100.0}
{"id": "HP:0005897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe generalized osteoporosis", "equivalent_identifiers": ["HP:0005897", "UMLS:C1859443"], "information_content": 100.0}
{"id": "HP:6000871", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Popcorn calcification", "equivalent_identifiers": ["HP:6000871", "UMLS:C1850181"], "information_content": 100.0}
{"id": "MONDO:0012523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 36", "equivalent_identifiers": ["MONDO:0012523", "DOID:0110405", "OMIM:610599", "UMLS:C1864621", "MESH:C566431", "medgen:351175"], "information_content": 100.0}
{"id": "MONDO:0011095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1D", "equivalent_identifiers": ["MONDO:0011095", "DOID:0110426", "OMIM:601494", "UMLS:C1832243", "MESH:C563306", "NCIT:C198599", "medgen:316943"], "information_content": 100.0}
{"id": "HP:6000313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incomplete right bundle branch block", "equivalent_identifiers": ["HP:6000313", "UMLS:C0262525", "MEDDRA:10051862", "SNOMEDCT:251124007"], "information_content": 100.0}
{"id": "MONDO:0009474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isovaleric acid, inability to smell", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009474", "OMIM:243450", "UMLS:C1855714", "medgen:383751"], "information_content": 100.0}
{"id": "MONDO:0957496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked 112", "equivalent_identifiers": ["MONDO:0957496", "OMIM:301111", "UMLS:C5829589", "medgen:1840225"], "information_content": 100.0}
{"id": "MONDO:0013973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 5, hair/nail type", "equivalent_identifiers": ["MONDO:0013973", "DOID:0111657", "OMIM:614927", "UMLS:C3554108", "medgen:767022"], "information_content": 100.0}
{"id": "MONDO:0000909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease type 4B", "equivalent_identifiers": ["MONDO:0000909", "DOID:0110146", "OMIM:613090", "UMLS:C4310805", "medgen:934772"], "information_content": 100.0}
{"id": "HP:0012605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypernatriuria", "equivalent_identifiers": ["HP:0012605", "UMLS:C3671887", "MEDDRA:10041280", "MEDDRA:10041281", "MEDDRA:10046556", "MEDDRA:10046672", "MEDDRA:10076507"], "information_content": 100.0}
{"id": "HP:0004909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypokalemic hypochloremic metabolic alkalosis", "equivalent_identifiers": ["HP:0004909", "UMLS:C0740896"], "information_content": 100.0}
{"id": "MONDO:0013573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia 3", "equivalent_identifiers": ["MONDO:0013573", "DOID:0080805", "OMIM:614099", "UMLS:C3279807", "medgen:481437"], "information_content": 100.0}
{"id": "HP:0010714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-4 toe syndactyly", "equivalent_identifiers": ["HP:0010714", "UMLS:C4021234"], "information_content": 90.9}
{"id": "MONDO:0014160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TCR-alpha-beta-positive T-cell deficiency", "equivalent_identifiers": ["MONDO:0014160", "DOID:0111977", "OMIM:615387", "orphanet:397959", "UMLS:C3809332", "medgen:815662"], "information_content": 100.0}
{"id": "MONDO:0008661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitiligo", "equivalent_identifiers": ["MONDO:0008661", "DOID:12306", "EFO:0004208", "UMLS:C0042900", "MESH:D014820", "MEDDRA:10047642", "MEDDRA:10047643", "NCIT:C26915", "SNOMEDCT:56727007", "medgen:22677", "icd11.foundation:1894744640", "ICD10:L80", "ICD9:709.01", "HP:0001045"], "information_content": 90.9}
{"id": "MONDO:0007808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis hystrix of Curth-Macklin", "equivalent_identifiers": ["MONDO:0007808", "OMIM:146590", "orphanet:79503", "UMLS:C1840296", "MESH:C536088", "SNOMEDCT:254170001", "medgen:326700"], "information_content": 100.0}
{"id": "HP:0045059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperkeratotic papule", "equivalent_identifiers": ["HP:0045059", "UMLS:C2047516"], "information_content": 100.0}
{"id": "MONDO:0033115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 25", "equivalent_identifiers": ["MONDO:0033115", "DOID:0080259", "OMIM:617584", "UMLS:C4539808", "medgen:1618081"], "information_content": 100.0}
{"id": "MONDO:0008466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Karsch-Neugebauer syndrome", "equivalent_identifiers": ["MONDO:0008466", "OMIM:183800", "orphanet:2329", "UMLS:C1866740", "MESH:C537319", "MEDDRA:10084376", "MEDDRA:10084379", "SNOMEDCT:722032005", "medgen:401072"], "information_content": 100.0}
{"id": "MONDO:0007164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 1", "equivalent_identifiers": ["MONDO:0007164", "DOID:0050772", "OMIM:108600", "orphanet:251282", "UMLS:C1970107", "MESH:C566993", "SNOMEDCT:784380009", "medgen:409988"], "information_content": 100.0}
{"id": "MONDO:0014500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial conduction disease", "equivalent_identifiers": ["MONDO:0014500", "OMIM:616117", "orphanet:436242", "EFO:0005304", "UMLS:C4015285", "medgen:863722"], "information_content": 100.0}
{"id": "HP:0004763", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal supraventricular tachycardia", "equivalent_identifiers": ["HP:0004763", "UMLS:C0030590", "UMLS:C4280507", "MEDDRA:10034044", "MEDDRA:10034046", "MEDDRA:10088149", "SNOMEDCT:67198005"], "information_content": 95.4}
{"id": "MONDO:0030974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 2 deficiency, nuclear type 4", "equivalent_identifiers": ["MONDO:0030974", "OMIM:619224", "UMLS:C5543176", "medgen:1782861"], "information_content": 100.0}
{"id": "HP:0011325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pansynostosis", "equivalent_identifiers": ["HP:0011325", "UMLS:C4021827"], "information_content": 100.0}
{"id": "OMIM:614700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY", "equivalent_identifiers": ["OMIM:614700", "UMLS:C3553512", "NCIT:C176809", "SNOMEDCT:1197477000"], "information_content": 100.0}
{"id": "HP:0410252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistently decreased total neutrophil count", "equivalent_identifiers": ["HP:0410252", "UMLS:C0746882", "MEDDRA:10066702"], "information_content": 100.0}
{"id": "HP:0032140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased specific antibody response to vaccination", "equivalent_identifiers": ["HP:0032140", "UMLS:C5139158"], "information_content": 82.6}
{"id": "HP:0008940", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized lymphadenopathy", "equivalent_identifiers": ["HP:0008940", "UMLS:C0476486", "MEDDRA:10069548", "MEDDRA:10069549", "SNOMEDCT:274741002"], "information_content": 100.0}
{"id": "MONDO:0016381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrichosis lanuginosa congenita", "equivalent_identifiers": ["MONDO:0016381", "OMIM:145700", "orphanet:2222", "UMLS:C0235864", "MESH:C538389", "SNOMEDCT:201163007", "SNOMEDCT:403799003", "medgen:66727", "icd11.foundation:199539869"], "information_content": 92.8}
{"id": "HP:0010730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double eyebrow", "equivalent_identifiers": ["HP:0010730", "UMLS:C0431449", "SNOMEDCT:253209004"], "information_content": 95.4}
{"id": "MONDO:0014156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 14", "equivalent_identifiers": ["MONDO:0014156", "OMIM:615378", "UMLS:C3809312", "medgen:815642"], "information_content": 100.0}
{"id": "HP:0012248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged PR interval", "equivalent_identifiers": ["HP:0012248", "EFO:0020929", "NCIT:C62247", "UMLS:C0600125", "MEDDRA:10036471", "MEDDRA:10036473", "MEDDRA:10053655", "MEDDRA:10053657", "SNOMEDCT:164947007"], "information_content": 100.0}
{"id": "MONDO:0008555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 2", "equivalent_identifiers": ["MONDO:0008555", "OMIM:188000", "UMLS:C1861185", "MESH:C536519", "NCIT:C129035", "medgen:349976"], "information_content": 95.4}
{"id": "HP:0034010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased megakaryocyte colony forming unit count", "equivalent_identifiers": ["HP:0034010", "UMLS:C5558381"], "information_content": 100.0}
{"id": "HP:0012524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal platelet shape", "equivalent_identifiers": ["HP:0012524", "UMLS:C4022866"], "information_content": 95.4}
{"id": "MONDO:0013551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 47", "equivalent_identifiers": ["MONDO:0013551", "DOID:0110799", "OMIM:614066", "UMLS:C3279738", "NCIT:C164224", "medgen:481368"], "information_content": 100.0}
{"id": "MONDO:0020485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "King-Denborough syndrome", "equivalent_identifiers": ["MONDO:0020485", "OMIM:619542", "orphanet:99741", "UMLS:C1840365", "UMLS:C2931510", "MESH:C536883", "MESH:C537504", "SNOMEDCT:764957003", "medgen:327082"], "information_content": 100.0}
{"id": "MONDO:0007709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hematuria, benign familial, 1", "equivalent_identifiers": ["MONDO:0007709", "OMIM:141200"], "information_content": 100.0}
{"id": "HP:0012577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin glomerular basement membrane", "equivalent_identifiers": ["HP:0012577", "UMLS:C3276821"], "information_content": 100.0}
{"id": "MONDO:0030042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteinuria, chronic benign", "equivalent_identifiers": ["MONDO:0030042", "OMIM:618884", "UMLS:C5394384", "medgen:1714078"], "information_content": 100.0}
{"id": "HP:0012592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Albuminuria", "equivalent_identifiers": ["HP:0012592", "EFO:0004285", "UMLS:C0001925", "MEDDRA:10001580", "SNOMEDCT:274769005", "MESH:D000419"], "information_content": 90.9}
{"id": "MONDO:0010367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SHOX-related short stature", "equivalent_identifiers": ["MONDO:0010367", "DOID:0112120", "OMIM:300582", "orphanet:314795", "UMLS:C1845118", "UMLS:C4706613", "MESH:C564479", "SNOMEDCT:763868006", "medgen:375584"], "information_content": 100.0}
{"id": "MONDO:0032848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 65, susceptibility to viral infections", "equivalent_identifiers": ["MONDO:0032848", "DOID:0111978", "OMIM:618648", "UMLS:C5231441", "medgen:1684865"], "information_content": 100.0}
{"id": "HP:0031123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent gastroenteritis", "equivalent_identifiers": ["HP:0031123", "UMLS:C3808828"], "information_content": 100.0}
{"id": "MONDO:0011034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontomicronychial dysplasia", "equivalent_identifiers": ["MONDO:0011034", "OMIM:601319", "orphanet:1811", "UMLS:C1832473", "MESH:C537741", "medgen:371336"], "information_content": 100.0}
{"id": "HP:0008383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slow-growing nails", "equivalent_identifiers": ["HP:0008383", "UMLS:C1835238"], "information_content": 100.0}
{"id": "HP:0006337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature eruption of permanent teeth", "equivalent_identifiers": ["HP:0006337", "UMLS:C4021601"], "information_content": 100.0}
{"id": "MONDO:0859197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0859197", "DOID:0081262", "OMIM:619556", "UMLS:C5561997", "medgen:1794207", "KEGG.DISEASE:H02463"], "information_content": 100.0}
{"id": "MONDO:0030046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity", "equivalent_identifiers": ["MONDO:0030046", "OMIM:618890", "UMLS:C5394423", "medgen:1711516"], "information_content": 100.0}
{"id": "HP:0025404", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal visual fixation", "equivalent_identifiers": ["HP:0025404", "UMLS:C4477094"], "information_content": 88.2}
{"id": "MONDO:0013555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 3", "equivalent_identifiers": ["MONDO:0013555", "DOID:0060541", "OMIM:614072", "UMLS:C3888001", "medgen:854708"], "information_content": 100.0}
{"id": "HP:0012530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal number of dense granules", "equivalent_identifiers": ["HP:0012530", "UMLS:C4022861"], "information_content": 92.8}
{"id": "MONDO:0009070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D-glyceric aciduria", "equivalent_identifiers": ["MONDO:0009070", "DOID:0111626", "OMIM:220120", "orphanet:941", "UMLS:C0342765", "UMLS:C1291386", "UMLS:C3887877", "MESH:C535767", "NCIT:C128804", "SNOMEDCT:124323007", "SNOMEDCT:237980004", "medgen:452447", "ICD10:E72.59"], "information_content": 100.0}
{"id": "HP:6000371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating D-glyceric acid concentration", "equivalent_identifiers": ["HP:6000371", "UMLS:C5937163"], "information_content": 100.0}
{"id": "HP:6000372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF D-glyceric acid concentration", "equivalent_identifiers": ["HP:6000372", "UMLS:C5937164"], "information_content": 100.0}
{"id": "HP:0034706", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic D-glycerate kinase activity", "equivalent_identifiers": ["HP:0034706", "UMLS:C5826599"], "information_content": 100.0}
{"id": "MONDO:0011612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycine encephalopathy", "equivalent_identifiers": ["MONDO:0011612", "DOID:9268", "OMIM.PS:605899", "orphanet:407", "UMLS:C0751748", "MESH:D020158", "MEDDRA:10070639", "MEDDRA:10070641", "MEDDRA:10080889", "NCIT:C84937", "SNOMEDCT:237939006", "medgen:155625", "icd11.foundation:1491869639", "ICD10:E72.51", "HP:0008288"], "information_content": 88.2}
{"id": "MONDO:0013868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis 7, multiple types", "equivalent_identifiers": ["MONDO:0013868", "OMIM:614714", "UMLS:C3553549", "medgen:766463"], "information_content": 100.0}
{"id": "MONDO:0006602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis", "equivalent_identifiers": ["MONDO:0006602", "DOID:3805", "OMIM.PS:175800", "orphanet:79358", "EFO:1000757", "UMLS:C0162839", "MESH:D017499", "MEDDRA:10036175", "NCIT:C85019", "SNOMEDCT:400080004", "medgen:56518", "icd11.foundation:29524620", "ICD10:L56.5", "ICD9:692.75", "HP:0200044"], "information_content": 83.1}
{"id": "MONDO:0008401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleomorphic adenoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0008401", "DOID:452", "OMIM:181030", "EFO:1000518", "UMLS:C0026277", "UMLS:C1519176", "MESH:C563250", "MESH:D008949", "MEDDRA:10073372", "NCIT:C35691", "NCIT:C40409", "NCIT:C8602", "SNOMEDCT:447888006", "SNOMEDCT:8360001", "medgen:275400"], "information_content": 77.3}
{"id": "MONDO:0004669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "salivary gland cancer", "equivalent_identifiers": ["MONDO:0004669", "DOID:8850", "EFO:0003826", "UMLS:C0036095", "UMLS:C0153362", "UMLS:C0220636", "MESH:D012468", "MEDDRA:10026445", "MEDDRA:10026677", "MEDDRA:10026684", "MEDDRA:10039396", "MEDDRA:10039397", "MEDDRA:10039418", "MEDDRA:10061497", "MEDDRA:10061934", "NCIT:C3811", "SNOMEDCT:255072001", "medgen:65079", "ICD10:C08", "ICD10:D11", "ICD9:142.8", "HP:0100684"], "information_content": 65.1}
{"id": "MONDO:0014178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2", "equivalent_identifiers": ["MONDO:0014178", "DOID:0111384", "OMIM:615422", "UMLS:C3809468", "medgen:815798"], "information_content": 100.0}
{"id": "MONDO:0005382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone Paget disease", "equivalent_identifiers": ["MONDO:0005382", "DOID:5408", "OMIM.PS:167250", "EFO:0004261", "UMLS:C0029401", "MESH:D010001", "MEDDRA:10031151", "MEDDRA:10033362", "MEDDRA:10033363", "NCIT:C3292", "SNOMEDCT:2089002", "medgen:10493", "ICD10:M88", "HP:0034159"], "information_content": 87.2}
{"id": "MONDO:0008778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, cutaneous bullous", "equivalent_identifiers": ["MONDO:0008778", "OMIM:204900", "UMLS:C0268399", "MESH:C562644", "SNOMEDCT:38606009", "medgen:78672"], "information_content": 100.0}
{"id": "MONDO:0030979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ENDOVE syndrome, limb-brain type", "equivalent_identifiers": ["MONDO:0030979", "OMIM:619218", "UMLS:C5543142", "medgen:1782954"], "information_content": 100.0}
{"id": "HP:0030884", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrojejunal tube feeding in infancy", "equivalent_identifiers": ["HP:0030884", "UMLS:C4280681"], "information_content": 100.0}
{"id": "HP:0033977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talar aplasia", "equivalent_identifiers": ["HP:0033977", "UMLS:C5553008"], "information_content": 100.0}
{"id": "HP:0031260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular tibia", "equivalent_identifiers": ["HP:0031260", "UMLS:C4531241"], "information_content": 100.0}
{"id": "MONDO:0011086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "equivalent_identifiers": ["MONDO:0011086", "DOID:0090013", "OMIM:601457", "orphanet:331206", "UMLS:C1832322", "MESH:C563311", "medgen:321935"], "information_content": 100.0}
{"id": "HP:0005390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent opportunistic infections", "equivalent_identifiers": ["HP:0005390", "UMLS:C1832324"], "information_content": 100.0}
{"id": "HP:0040334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Purulent rhinitis", "equivalent_identifiers": ["HP:0040334", "UMLS:C0264272", "MEDDRA:10050088", "MEDDRA:10056749", "MEDDRA:10056752", "MEDDRA:10056753", "SNOMEDCT:14310000", "SNOMEDCT:8442000"], "information_content": 100.0}
{"id": "HP:0008866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Failure to thrive secondary to recurrent infections", "equivalent_identifiers": ["HP:0008866", "UMLS:C1832323"], "information_content": 100.0}
{"id": "MONDO:0020847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 58", "equivalent_identifiers": ["MONDO:0020847", "DOID:0061032", "OMIM:618106", "UMLS:C4748195", "medgen:1648488"], "information_content": 100.0}
{"id": "HP:0007429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Few cafe-au-lait spots", "equivalent_identifiers": ["HP:0007429", "UMLS:C4024881"], "information_content": 100.0}
{"id": "MONDO:0014979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonus, intractable, neonatal", "equivalent_identifiers": ["MONDO:0014979", "OMIM:617235", "UMLS:C4310658", "medgen:934625"], "information_content": 100.0}
{"id": "HP:0031146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired oral bolus formation", "equivalent_identifiers": ["HP:0031146", "UMLS:C4477005"], "information_content": 100.0}
{"id": "HP:0006980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive leukoencephalopathy", "equivalent_identifiers": ["HP:0006980", "UMLS:C1855010"], "information_content": 100.0}
{"id": "MONDO:0957593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 86", "equivalent_identifiers": ["MONDO:0957593", "DOID:0070585", "OMIM:620499", "UMLS:C5882755", "medgen:1847370"], "information_content": 100.0}
{"id": "HP:0012865", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sperm head morphology", "equivalent_identifiers": ["HP:0012865", "UMLS:C4022702"], "information_content": 82.1}
{"id": "MONDO:0019531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia due to glutathione reductase deficiency", "equivalent_identifiers": ["MONDO:0019531", "DOID:0051009", "OMIM:618660", "orphanet:90030", "UMLS:C5231513", "medgen:1684855"], "information_content": 100.0}
{"id": "HP:6000525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte glutathione reductase activity", "equivalent_identifiers": ["HP:6000525", "UMLS:C5937288"], "information_content": 100.0}
{"id": "HP:0004814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fava bean-induced hemolytic anemia", "equivalent_identifiers": ["HP:0004814", "UMLS:C4021648"], "information_content": 100.0}
{"id": "MONDO:0011037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal dysplasia, cystic, susceptibility to", "equivalent_identifiers": ["MONDO:0011037", "DOID:0111682", "OMIM:601331", "UMLS:C1832471", "UMLS:C3275898", "MESH:C537755", "medgen:477529"], "information_content": 100.0}
{"id": "MONDO:0009268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "equivalent_identifiers": ["MONDO:0009268", "DOID:0112250", "OMIM:231005", "orphanet:2072", "UMLS:C1856476", "UMLS:C2931585", "MESH:C537675", "MESH:C565553", "SNOMEDCT:1156813002", "medgen:341563"], "information_content": 100.0}
{"id": "HP:0004963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcification of the aorta", "equivalent_identifiers": ["HP:0004963", "UMLS:C1096249", "MEDDRA:10054208"], "information_content": 87.2}
{"id": "HP:0000623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supranuclear ophthalmoplegia", "equivalent_identifiers": ["HP:0000623", "UMLS:C1408507"], "information_content": 100.0}
{"id": "HP:0007885", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slowed horizontal saccades", "equivalent_identifiers": ["HP:0007885", "UMLS:C1856477"], "information_content": 100.0}
{"id": "HP:0007975", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypometric horizontal saccades", "equivalent_identifiers": ["HP:0007975", "UMLS:C1856478"], "information_content": 100.0}
{"id": "MONDO:0014136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension, primary, 4", "equivalent_identifiers": ["MONDO:0014136", "OMIM:615344", "UMLS:C3809198", "medgen:815528"], "information_content": 100.0}
{"id": "HP:0033424", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary arterial hypertension with lack of acute response to NO challenge", "equivalent_identifiers": ["HP:0033424", "UMLS:C5539584"], "information_content": 100.0}
{"id": "HP:0001907", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thromboembolism", "equivalent_identifiers": ["HP:0001907", "NCIT:C28195", "UMLS:C0040038", "UMLS:C0085307", "MEDDRA:10014523", "MEDDRA:10043565", "MEDDRA:10043566", "MEDDRA:10043567", "SNOMEDCT:13713005", "SNOMEDCT:371039008", "MESH:D013923", "MESH:D016769"], "information_content": 86.3}
{"id": "MONDO:0100478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain malformations with or without urinary tract defects", "equivalent_identifiers": ["MONDO:0100478", "OMIM:613735", "UMLS:C4478940", "medgen:1392440"], "information_content": 100.0}
{"id": "MONDO:0014140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", "equivalent_identifiers": ["MONDO:0014140", "DOID:0111233", "OMIM:615350", "UMLS:C3809216", "medgen:815546"], "information_content": 100.0}
{"id": "MONDO:0013388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 11", "equivalent_identifiers": ["MONDO:0013388", "DOID:0080421", "OMIM:613721", "UMLS:C3150987", "NCIT:C172096", "medgen:462337"], "information_content": 100.0}
{"id": "MONDO:0014813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 13", "equivalent_identifiers": ["MONDO:0014813", "DOID:0060795", "OMIM:616881", "UMLS:C4225170", "medgen:896545"], "information_content": 100.0}
{"id": "HP:0004466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed brainstem auditory evoked response conduction time", "equivalent_identifiers": ["HP:0004466", "UMLS:C4025322"], "information_content": 100.0}
{"id": "MONDO:0032865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure, telomere-related, 5", "equivalent_identifiers": ["MONDO:0032865", "OMIM:618674", "EFO:0010664", "UMLS:C5231457", "medgen:1684878"], "information_content": 100.0}
{"id": "HP:0031413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short telomere length", "equivalent_identifiers": ["HP:0031413", "UMLS:C4531138"], "information_content": 100.0}
{"id": "MONDO:0060507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal dystrophy with or without macular staphyloma", "equivalent_identifiers": ["MONDO:0060507", "OMIM:617547", "orphanet:653709", "UMLS:C4479651", "medgen:1381980"], "information_content": 100.0}
{"id": "MONDO:0007691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Guillain-Barre syndrome, familial", "equivalent_identifiers": ["MONDO:0007691", "OMIM:139393", "EFO:0009538", "UMLS:C4083008", "SNOMEDCT:716723000", "medgen:901636"], "information_content": 100.0}
{"id": "HP:0007131", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute demyelinating polyneuropathy", "equivalent_identifiers": ["HP:0007131", "UMLS:C4024933"], "information_content": 100.0}
{"id": "MONDO:0020852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 31", "equivalent_identifiers": ["MONDO:0020852", "DOID:0111922", "OMIM:618112", "UMLS:C4748234", "medgen:1648419"], "information_content": 100.0}
{"id": "MONDO:0013871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 6", "equivalent_identifiers": ["MONDO:0013871", "DOID:0070006", "OMIM:614728", "UMLS:C3553582", "medgen:766496"], "information_content": 100.0}
{"id": "MONDO:0014187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 8", "equivalent_identifiers": ["MONDO:0014187", "OMIM:615436", "UMLS:C3809513", "medgen:815843"], "information_content": 100.0}
{"id": "MONDO:0007385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic spontaneous coronary artery dissection", "equivalent_identifiers": ["MONDO:0007385", "OMIM:122455", "orphanet:458718", "EFO:0010820", "UMLS:C0340648", "UMLS:C1852540", "MESH:C565153", "MEDDRA:10048631", "NCIT:C165532", "SNOMEDCT:732230001", "medgen:377701", "HP:0006702"], "information_content": 100.0}
{"id": "MONDO:0006714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary aneurysm", "equivalent_identifiers": ["MONDO:0006714", "DOID:3362", "EFO:1000881", "UMLS:C0010051", "UMLS:C4255100", "MESH:D003323", "MEDDRA:10002348", "MEDDRA:10011071", "NCIT:C168176", "SNOMEDCT:50570003", "medgen:3622", "ICD10:I25.41", "ICD9:414.11", "HP:0030882"], "information_content": 95.4}
{"id": "HP:0012499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Descending aortic dissection", "equivalent_identifiers": ["HP:0012499", "UMLS:C0340647", "UMLS:C4022878", "MEDDRA:10077125", "MEDDRA:10080070"], "information_content": 100.0}
{"id": "MONDO:0011382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sickle cell disease", "equivalent_identifiers": ["MONDO:0011382", "DOID:0081445", "DOID:10923", "OMIM:603903", "orphanet:232", "UMLS:C0002895", "MESH:D000755", "MEDDRA:10002077", "MEDDRA:10040641", "MEDDRA:10040644", "MEDDRA:10040645", "MEDDRA:10040646", "MEDDRA:10040652", "MEDDRA:10040653", "MEDDRA:10040654", "MEDDRA:10054629", "MEDDRA:10055200", "MEDDRA:10055741", "NCIT:C34383", "SNOMEDCT:127040003", "SNOMEDCT:417357006", "medgen:287", "ICD10:D57", "ICD9:282.6"], "information_content": 88.2}
{"id": "MONDO:0006978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic infarction", "equivalent_identifiers": ["MONDO:0006978", "DOID:2533", "EFO:1001190", "UMLS:C0037998", "MESH:D013159", "MEDDRA:10041648", "SNOMEDCT:22996003", "medgen:52468", "ICD10:D73.5", "HP:0034336"], "information_content": 100.0}
{"id": "HP:0008346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased red cell sickling tendency", "equivalent_identifiers": ["HP:0008346", "UMLS:C4024695"], "information_content": 100.0}
{"id": "MONDO:0004745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "priapism", "equivalent_identifiers": ["MONDO:0004745", "DOID:9286", "orphanet:140949", "UMLS:C0033117", "MESH:D011317", "MEDDRA:10036661", "NCIT:C85022", "SNOMEDCT:6273006", "medgen:19462", "icd11.foundation:1983776037", "ICD10:N48.3", "ICD9:607.3", "HP:0200023"], "information_content": 95.4}
{"id": "MONDO:0859308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 95", "equivalent_identifiers": ["MONDO:0859308", "DOID:0061112", "OMIM:620102", "UMLS:C5774244", "medgen:1824017"], "information_content": 100.0}
{"id": "MONDO:0008025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 2A", "equivalent_identifiers": ["MONDO:0008025", "OMIM:158590", "UMLS:C1834692", "MESH:C563561", "medgen:322471"], "information_content": 100.0}
{"id": "HP:0002601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paresis of extensor muscles of the big toe", "equivalent_identifiers": ["HP:0002601", "UMLS:C4025696"], "information_content": 100.0}
{"id": "MONDO:0033372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 63", "equivalent_identifiers": ["MONDO:0033372", "DOID:0080426", "OMIM:617976", "UMLS:C4693810", "medgen:1646846"], "information_content": 100.0}
{"id": "HP:0033258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sudden unexpected death in epilepsy", "equivalent_identifiers": ["HP:0033258", "UMLS:C4304727", "MEDDRA:10063894", "MEDDRA:10063895", "SNOMEDCT:719425009", "MESH:D000080485"], "information_content": 100.0}
{"id": "HP:0011198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with generalized epileptiform discharges", "equivalent_identifiers": ["HP:0011198", "UMLS:C4023476"], "information_content": 82.1}
{"id": "MONDO:0030746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 2A, intermediate", "equivalent_identifiers": ["MONDO:0030746", "OMIM:619783", "UMLS:C5676936", "medgen:1807376"], "information_content": 100.0}
{"id": "HP:0033804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subepidermal blistering", "equivalent_identifiers": ["HP:0033804", "UMLS:C1856956"], "information_content": 92.8}
{"id": "MONDO:0009980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal telangiectasia and hypogammaglobulinemia", "equivalent_identifiers": ["MONDO:0009980", "OMIM:267900", "UMLS:C2930961", "MESH:C535638", "medgen:419680"], "information_content": 100.0}
{"id": "MONDO:0014350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 8", "equivalent_identifiers": ["MONDO:0014350", "DOID:0070009", "OMIM:615807", "UMLS:C3891452", "medgen:856014"], "information_content": 100.0}
{"id": "MONDO:0010745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-thalassemia-X-linked thrombocytopenia syndrome", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010745", "DOID:0111767", "OMIM:314050", "orphanet:231393", "UMLS:C1839161", "MESH:C564050", "NCIT:C134941", "SNOMEDCT:718196002", "medgen:326415", "icd11.foundation:905057212"], "information_content": 100.0}
{"id": "HP:0033536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced platelet alpha granules", "equivalent_identifiers": ["HP:0033536", "UMLS:C5539664"], "information_content": 100.0}
{"id": "MONDO:0007078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoparathyroidism type 1A", "equivalent_identifiers": ["MONDO:0007078", "DOID:0080053", "OMIM:103580", "orphanet:79443", "UMLS:C2931404", "UMLS:C3494506", "MESH:C537045", "NCIT:C118434", "NCIT:C129721", "SNOMEDCT:58833000", "medgen:488447", "icd11.foundation:1513156369"], "information_content": 92.8}
{"id": "HP:0003456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low urinary cyclic AMP response to PTH administration", "equivalent_identifiers": ["HP:0003456", "UMLS:C1864105"], "information_content": 100.0}
{"id": "HP:0003472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocalcemic tetany", "equivalent_identifiers": ["HP:0003472", "UMLS:C0151940", "MEDDRA:10020951", "MEDDRA:10043381", "MEDDRA:10060381", "MEDDRA:10060425", "SNOMEDCT:190869004"], "information_content": 100.0}
{"id": "HP:0034282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcutaneous ossification", "equivalent_identifiers": ["HP:0034282", "UMLS:C3805337"], "information_content": 100.0}
{"id": "MONDO:0019992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoparathyroidism", "equivalent_identifiers": ["MONDO:0019992", "DOID:4184", "orphanet:97593", "UMLS:C0033806", "MESH:D011547", "MEDDRA:10037126", "NCIT:C99027", "SNOMEDCT:58976002", "medgen:46178", "icd11.foundation:1225154856", "ICD10:E20.1", "HP:0000852"], "information_content": 88.2}
{"id": "HP:0006960", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Choroid plexus calcification", "equivalent_identifiers": ["HP:0006960", "UMLS:C1863184"], "information_content": 100.0}
{"id": "OMIM:620670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 15", "equivalent_identifiers": ["OMIM:620670", "UMLS:C5882741"]}
{"id": "HP:0410302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased specific antibody response to protein-conjugated polysaccharide vaccine", "equivalent_identifiers": ["HP:0410302", "UMLS:C5139465"], "information_content": 89.4}
{"id": "HP:0005215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frequent Giardia lamblia infestation", "equivalent_identifiers": ["HP:0005215", "UMLS:C4025235"], "information_content": 100.0}
{"id": "HP:0410299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased specific antibody response to polysaccharide vaccine", "equivalent_identifiers": ["HP:0410299", "UMLS:C5139462"], "information_content": 92.8}
{"id": "HP:0004897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stress/infection-induced lactic acidosis", "equivalent_identifiers": ["HP:0004897", "UMLS:C4025278", "UMLS:C5539402"], "information_content": 100.0}
{"id": "MONDO:0859232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with central hypotonia and dysmorphic facies", "equivalent_identifiers": ["MONDO:0859232", "OMIM:619797", "UMLS:C5676944", "medgen:1807420"], "information_content": 95.4}
{"id": "MONDO:0859264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 11", "equivalent_identifiers": ["MONDO:0859264", "OMIM:619967", "UMLS:C3151531", "medgen:462881"], "information_content": 100.0}
{"id": "MONDO:0014074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease dominant intermediate F", "equivalent_identifiers": ["MONDO:0014074", "DOID:0110206", "OMIM:615185", "orphanet:352670", "UMLS:C4749463", "SNOMEDCT:770759001", "medgen:1666273"], "information_content": 100.0}
{"id": "HP:0003450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axonal regeneration", "equivalent_identifiers": ["HP:0003450", "UMLS:C1854454"], "information_content": 95.4}
{"id": "MONDO:0009191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lowry-Wood syndrome", "equivalent_identifiers": ["MONDO:0009191", "OMIM:226960", "orphanet:1824", "UMLS:C0796021", "MESH:C537038", "MEDDRA:10062600", "SNOMEDCT:721975004", "medgen:162899", "icd11.foundation:1713071905"], "information_content": 100.0}
{"id": "HP:0012095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple joint dislocation", "equivalent_identifiers": ["HP:0012095", "NCIT:C34883", "UMLS:C0332792", "SNOMEDCT:287096003", "SNOMEDCT:34277002"], "information_content": 100.0}
{"id": "MONDO:0016648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia", "equivalent_identifiers": ["MONDO:0016648", "DOID:12721", "OMIM.PS:132400", "orphanet:251", "UMLS:C0026760", "MEDDRA:10013956", "MEDDRA:10028197", "SNOMEDCT:59708000", "medgen:6461", "icd11.foundation:2009123831", "ICD9:756.56", "HP:0002654"], "information_content": 82.6}
{"id": "MONDO:0007380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lattice corneal dystrophy type I", "equivalent_identifiers": ["MONDO:0007380", "OMIM:122200", "orphanet:98964", "UMLS:C1690006", "MESH:C537881", "SNOMEDCT:419197009", "medgen:305533"], "information_content": 100.0}
{"id": "MONDO:0009405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical hypertrichosis-peripheral neuropathy syndrome", "equivalent_identifiers": ["MONDO:0009405", "OMIM:239840", "orphanet:2218", "UMLS:C1855902", "MESH:C565492", "medgen:341004"], "information_content": 100.0}
{"id": "MONDO:0010887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated anterior cervical hypertrichosis", "equivalent_identifiers": ["MONDO:0010887", "OMIM:600457", "orphanet:3387", "UMLS:C1838123", "MESH:C538390", "SNOMEDCT:717963001", "medgen:325346", "HP:0004535"], "information_content": 100.0}
{"id": "MONDO:0010700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy--spastic paraplegia syndrome", "equivalent_identifiers": ["MONDO:0010700", "OMIM:311100", "UMLS:C1839565", "MESH:C564084", "medgen:326914"], "information_content": 100.0}
{"id": "HP:0004924", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal oral glucose tolerance", "equivalent_identifiers": ["HP:0004924", "UMLS:C1847425"], "information_content": 100.0}
{"id": "MONDO:0971173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation with arthritis and vasculitis", "equivalent_identifiers": ["MONDO:0971173", "OMIM:620880", "UMLS:C5935634", "medgen:1855512"], "information_content": 100.0}
{"id": "HP:0003271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visceromegaly", "equivalent_identifiers": ["HP:0003271", "UMLS:C0042782", "SNOMEDCT:28543008"], "information_content": 74.2}
{"id": "MONDO:0006794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypersensitivity vasculitis", "equivalent_identifiers": ["MONDO:0006794", "DOID:9809", "EFO:1000974", "UMLS:C2973529", "MEDDRA:10024278", "MEDDRA:10024377", "NCIT:C82863", "SNOMEDCT:60555002", "ICD9:446.2", "HP:0034786"], "information_content": 92.8}
{"id": "HP:4000054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exanthem", "equivalent_identifiers": ["HP:4000054"], "information_content": 92.8}
{"id": "MONDO:0007472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal laminar drusen", "equivalent_identifiers": ["MONDO:0007472", "DOID:0060746", "OMIM:126700", "UMLS:C0730295", "MESH:C563034", "SNOMEDCT:312926005", "medgen:152676"], "information_content": 100.0}
{"id": "HP:0011510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Drusen", "equivalent_identifiers": ["HP:0011510", "NCIT:C161546", "UMLS:C0333440", "UMLS:C1260959", "SNOMEDCT:18695008"], "information_content": 92.8}
{"id": "MONDO:0971009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, hereditary systemic 5", "equivalent_identifiers": ["MONDO:0971009", "OMIM:620658", "UMLS:C5935572", "medgen:1859086"], "information_content": 100.0}
{"id": "HP:0010637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjunctival amyloidosis", "equivalent_identifiers": ["HP:0010637", "UMLS:C0268402", "SNOMEDCT:59017008"], "information_content": 100.0}
{"id": "HP:0001917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal amyloidosis", "equivalent_identifiers": ["HP:0001917", "UMLS:C0268382", "MEDDRA:10038357", "SNOMEDCT:48713002"], "information_content": 92.8}
{"id": "MONDO:0011129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma type 1C", "equivalent_identifiers": ["MONDO:0011129", "OMIM:601682", "UMLS:C1866483", "MESH:C566641", "medgen:356544"], "information_content": 100.0}
{"id": "MONDO:0971175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2K", "equivalent_identifiers": ["MONDO:0971175", "OMIM:620894", "UMLS:C5935636", "medgen:1861075"], "information_content": 100.0}
{"id": "MONDO:0009883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-2-plasmin inhibitor deficiency", "equivalent_identifiers": ["MONDO:0009883", "DOID:0060601", "OMIM:262850", "orphanet:79", "UMLS:C2752081", "UMLS:C3489734", "UMLS:C4274304", "MESH:C537777", "SNOMEDCT:716746003", "medgen:414178", "icd11.foundation:688627594", "ICD10:D68.8"], "information_content": 100.0}
{"id": "HP:0012151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemothorax", "equivalent_identifiers": ["HP:0012151", "NCIT:C50582", "UMLS:C0019123", "MEDDRA:10019027", "MEDDRA:10019578", "MEDDRA:10019614", "MEDDRA:10035601", "MEDDRA:10055319", "MEDDRA:10055837", "MEDDRA:10071865", "SNOMEDCT:31892009", "MESH:D006491"], "information_content": 100.0}
{"id": "MONDO:0013211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1FF", "equivalent_identifiers": ["MONDO:0013211", "DOID:0110459", "OMIM:613286", "UMLS:C2750091", "MESH:C567654", "medgen:412876"], "information_content": 100.0}
{"id": "MONDO:0012814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diastasis recti and weakness of the linea alba", "equivalent_identifiers": ["MONDO:0012814", "OMIM:612198", "UMLS:C2677303", "MESH:C567402", "medgen:394255"], "information_content": 100.0}
{"id": "MONDO:0008723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "very long chain acyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0008723", "DOID:0080155", "OMIM:201475", "orphanet:26793", "UMLS:C3887523", "MESH:C536353", "MEDDRA:10072277", "MEDDRA:10072656", "NCIT:C98647", "SNOMEDCT:237997005", "medgen:854382", "icd11.foundation:907810567"], "information_content": 100.0}
{"id": "HP:0009045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced rhabdomyolysis", "equivalent_identifiers": ["HP:0009045", "UMLS:C4021526"], "information_content": 100.0}
{"id": "HP:0001404", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatocellular necrosis", "equivalent_identifiers": ["HP:0001404", "UMLS:C1855038", "MEDDRA:10028859"], "information_content": 100.0}
{"id": "HP:0005943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory arrest", "equivalent_identifiers": ["HP:0005943", "NCIT:C101772", "UMLS:C0162297", "MEDDRA:10003114", "MEDDRA:10003115", "MEDDRA:10006337", "MEDDRA:10037323", "MEDDRA:10038669", "SNOMEDCT:87317003"], "information_content": 95.4}
{"id": "HP:6000860", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished tissue very long-chain acyl-CoA dehydrogenase activity", "equivalent_identifiers": ["HP:6000860", "UMLS:C5937574"], "information_content": 100.0}
{"id": "HP:0001958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonketotic hypoglycemia", "equivalent_identifiers": ["HP:0001958", "UMLS:C1865292"], "information_content": 100.0}
{"id": "MONDO:0009786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 6", "equivalent_identifiers": ["MONDO:0009786", "DOID:0111435", "OMIM:258500", "UMLS:C1850281", "MESH:C537127", "medgen:338012"], "information_content": 100.0}
{"id": "MONDO:0014077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 5", "equivalent_identifiers": ["MONDO:0014077", "DOID:0112230", "OMIM:615191", "orphanet:352682", "UMLS:C3554657", "medgen:767571"], "information_content": 100.0}
{"id": "HP:0100307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar hemisphere hypoplasia", "equivalent_identifiers": ["HP:0100307", "UMLS:C4022154"], "information_content": 100.0}
{"id": "OMIM:606660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1", "equivalent_identifiers": ["OMIM:606660", "UMLS:C1847724"]}
{"id": "MONDO:0012145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular degeneration, age-related, 3", "equivalent_identifiers": ["MONDO:0012145", "OMIM:608895", "UMLS:C1837187", "MESH:C563838", "medgen:373276"], "information_content": 100.0}
{"id": "HP:0011808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased patellar reflex", "equivalent_identifiers": ["HP:0011808", "UMLS:C3277184"], "information_content": 100.0}
{"id": "MONDO:0009767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cross syndrome", "equivalent_identifiers": ["MONDO:0009767", "OMIM:257800", "orphanet:2719", "UMLS:C2936910", "SNOMEDCT:17827007", "medgen:423639"], "information_content": 100.0}
{"id": "MONDO:0033613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities", "equivalent_identifiers": ["MONDO:0033613", "OMIM:619026", "orphanet:641353", "UMLS:C2751938", "UMLS:C5436628", "MESH:C567853", "medgen:1736667"], "information_content": 100.0}
{"id": "MONDO:0018264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 6", "equivalent_identifiers": ["MONDO:0018264", "DOID:0080614", "OMIM:113750", "orphanet:370097", "UMLS:C2676042", "UMLS:C3805375", "MESH:C567300", "SNOMEDCT:722058005", "medgen:811705"], "information_content": 100.0}
{"id": "HP:0002286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fair hair", "equivalent_identifiers": ["HP:0002286", "UMLS:C0239801", "UMLS:C1849221", "SNOMEDCT:297995004"], "information_content": 100.0}
{"id": "MONDO:0008569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone resistance, generalized, autosomal dominant", "equivalent_identifiers": ["MONDO:0008569", "OMIM:188570", "UMLS:C2937288", "MESH:C567934", "medgen:424846"], "information_content": 100.0}
{"id": "MONDO:0001328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone resistance syndrome", "equivalent_identifiers": ["MONDO:0001328", "DOID:11633", "UMLS:C2940786", "UMLS:C5779944", "MESH:D018382", "MEDDRA:10090554", "SNOMEDCT:111567006", "SNOMEDCT:237559000", "SNOMEDCT:237560005", "SNOMEDCT:50375007", "medgen:424854", "HP:0002930"], "information_content": 84.2}
{"id": "MONDO:0010497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 102", "equivalent_identifiers": ["MONDO:0010497", "OMIM:300958", "UMLS:C4085582", "UMLS:C5393299", "NCIT:C129931", "medgen:1715418"], "information_content": 100.0}
{"id": "HP:0005164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic pulmonary valve", "equivalent_identifiers": ["HP:0005164", "UMLS:C0344974", "UMLS:C1866206", "SNOMEDCT:253588008"], "information_content": 100.0}
{"id": "MONDO:0011539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 5", "equivalent_identifiers": ["MONDO:0011539", "DOID:0110936", "OMIM:605355", "orphanet:98902", "UMLS:C1854380", "MESH:C538397", "SNOMEDCT:1197155007", "medgen:344273"], "information_content": 100.0}
{"id": "MONDO:0030913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 48", "equivalent_identifiers": ["MONDO:0030913", "DOID:0080235", "OMIM:617751", "orphanet:500159", "EFO:0009156", "UMLS:C4540321", "medgen:1619532"], "information_content": 100.0}
{"id": "MONDO:0032765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bleeding disorder, platelet-type, 22", "equivalent_identifiers": ["MONDO:0032765", "OMIM:618462", "UMLS:C5193111", "medgen:1673822"], "information_content": 100.0}
{"id": "HP:0001933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcutaneous hemorrhage", "equivalent_identifiers": ["HP:0001933", "UMLS:C0854107", "MEDDRA:10018999", "MEDDRA:10055274"], "information_content": 83.6}
{"id": "HP:0011889", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Easy Bleeding", "equivalent_identifiers": ["HP:0011889", "NCIT:C95552", "UMLS:C2199604", "UMLS:C4023143"], "information_content": 100.0}
{"id": "MONDO:0012554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrooculofacioskeletal syndrome 4", "equivalent_identifiers": ["MONDO:0012554", "DOID:0080914", "OMIM:610758", "UMLS:C1853100", "MESH:C565184", "NCIT:C173104", "medgen:342798"], "information_content": 100.0}
{"id": "HP:0005458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature closure of fontanelles", "equivalent_identifiers": ["HP:0005458", "UMLS:C0277827", "UMLS:C4072853", "SNOMEDCT:1667003"], "information_content": 95.4}
{"id": "MONDO:0005283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal disease", "equivalent_identifiers": ["MONDO:0005283", "DOID:5679", "EFO:0003839", "UMLS:C0035300", "UMLS:C0035309", "MESH:D012164", "MEDDRA:10013265", "MEDDRA:10038853", "MEDDRA:10038854", "MEDDRA:10038923", "MEDDRA:10046146", "MEDDRA:10048487", "NCIT:C26875", "NCIT:C62601", "SNOMEDCT:29555009", "medgen:11209", "ICD10:H35.9", "ICD9:362.9", "HP:0000479"], "information_content": 56.1}
{"id": "HP:0000078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the genital system", "equivalent_identifiers": ["HP:0000078", "UMLS:C0281966", "UMLS:C0744356"], "information_content": 49.5}
{"id": "HP:0010455", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Steep acetabular roof", "equivalent_identifiers": ["HP:0010455", "UMLS:C3150931"], "information_content": 100.0}
{"id": "MONDO:0007193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis 1", "equivalent_identifiers": ["MONDO:0007193", "DOID:0070358", "OMIM:109720", "UMLS:C4551595", "medgen:1642459"], "information_content": 100.0}
{"id": "MONDO:0007288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 6 multiple types", "equivalent_identifiers": ["MONDO:0007288", "DOID:0110229", "OMIM:116600", "UMLS:C1861825", "MESH:C535339", "medgen:396229"], "information_content": 100.0}
{"id": "MONDO:0014589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 13", "equivalent_identifiers": ["MONDO:0014589", "DOID:0111110", "OMIM:616329", "UMLS:C4225365", "medgen:897640"], "information_content": 100.0}
{"id": "HP:0045081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of body mass index", "equivalent_identifiers": ["HP:0045081", "UMLS:C3805014", "MEDDRA:10074506"], "information_content": 92.8}
{"id": "HP:0025329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-glutamic acid decarboxylase antibody positivity", "equivalent_identifiers": ["HP:0025329", "UMLS:C4476703"], "information_content": 100.0}
{"id": "MONDO:0100316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 1", "equivalent_identifiers": ["MONDO:0100316", "DOID:0110644", "OMIM:192500", "UMLS:C1843738", "UMLS:C3277700", "UMLS:C4551647", "MESH:D029597", "MEDDRA:10039211", "NCIT:C85049", "SNOMEDCT:20852007", "medgen:1641146", "ICD10:I45.8"], "information_content": 100.0}
{"id": "MONDO:0008522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synovial chondromatosis, familial, with dwarfism", "equivalent_identifiers": ["MONDO:0008522", "OMIM:186575", "UMLS:C1861304", "MESH:C566087", "medgen:348836"], "information_content": 100.0}
{"id": "MONDO:0008378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 9", "equivalent_identifiers": ["MONDO:0008378", "DOID:0110387", "OMIM:180104", "UMLS:C1867300", "MESH:C566716", "medgen:356743"], "information_content": 100.0}
{"id": "MONDO:0013197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 14", "equivalent_identifiers": ["MONDO:0013197", "DOID:0110320", "OMIM:613251", "UMLS:C2750467", "MESH:C567684", "NCIT:C176899", "medgen:442484"], "information_content": 100.0}
{"id": "MONDO:0010550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked recessive 2", "equivalent_identifiers": ["MONDO:0010550", "DOID:0110208", "OMIM:302801", "orphanet:101076", "UMLS:C1844873", "MESH:C535302", "SNOMEDCT:763457000", "medgen:336803"], "information_content": 100.0}
{"id": "HP:0006368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Forearm reduction defects", "equivalent_identifiers": ["HP:0006368", "UMLS:C1849327"], "information_content": 100.0}
{"id": "MONDO:0008706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ackerman syndrome", "equivalent_identifiers": ["MONDO:0008706", "OMIM:200970", "orphanet:2561", "UMLS:C1860167", "MESH:C538170", "SNOMEDCT:722280000", "medgen:395426", "icd11.foundation:1946127088"], "information_content": 100.0}
{"id": "MONDO:0014871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 75", "equivalent_identifiers": ["MONDO:0014871", "DOID:0110361", "OMIM:617023", "UMLS:C4310759", "medgen:934726"], "information_content": 100.0}
{"id": "HP:0031790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mixed astigmatism", "equivalent_identifiers": ["HP:0031790", "UMLS:C3266021", "SNOMEDCT:449725006"], "information_content": 100.0}
{"id": "MONDO:0032668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 18", "equivalent_identifiers": ["MONDO:0032668", "DOID:0111896", "OMIM:618310", "UMLS:C5193020", "medgen:1681154"], "information_content": 100.0}
{"id": "HP:0012139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Granulocytic hypoplasia", "equivalent_identifiers": ["HP:0012139", "UMLS:C1534864", "SNOMEDCT:416627004"], "information_content": 100.0}
{"id": "MONDO:0009162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ellis-van Creveld syndrome", "equivalent_identifiers": ["MONDO:0009162", "DOID:12714", "OMIM:225500", "orphanet:289", "UMLS:C0013903", "MESH:D004613", "MEDDRA:10008724", "MEDDRA:10076418", "NCIT:C84684", "SNOMEDCT:62501005", "medgen:8584", "ICD10:Q77.6", "ICD9:756.55"], "information_content": 95.4}
{"id": "HP:0006035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of phalanges 2 to 5", "equivalent_identifiers": ["HP:0006035", "UMLS:C1857005"], "information_content": 100.0}
{"id": "HP:0006477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal alveolar ridge morphology", "equivalent_identifiers": ["HP:0006477", "UMLS:C0341007", "UMLS:C4280445", "SNOMEDCT:235013007"], "information_content": 79.6}
{"id": "MONDO:0010999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fallot complex-intellectual disability-growth delay syndrome", "equivalent_identifiers": ["MONDO:0010999", "OMIM:601127", "orphanet:3304", "UMLS:C1832735", "MESH:C536608", "SNOMEDCT:723336008", "medgen:322025"], "information_content": 100.0}
{"id": "MONDO:0032772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain abnormalities, neurodegeneration, and dysosteosclerosis", "equivalent_identifiers": ["MONDO:0032772", "OMIM:618476", "EFO:0010268", "UMLS:C5193117", "medgen:1678789"], "information_content": 100.0}
{"id": "HP:0003034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diaphyseal sclerosis", "equivalent_identifiers": ["HP:0003034", "UMLS:C4551853"], "information_content": 88.2}
{"id": "HP:0005464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Craniofacial osteosclerosis", "equivalent_identifiers": ["HP:0005464", "UMLS:C1845805", "UMLS:C4025193"], "information_content": 86.3}
{"id": "HP:0004330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased skull ossification", "equivalent_identifiers": ["HP:0004330", "NCIT:C34713", "UMLS:C0020496", "UMLS:C4072850", "UMLS:C4072851", "MEDDRA:10020699", "SNOMEDCT:17401000119104", "SNOMEDCT:788954009"], "information_content": 92.8}
{"id": "MONDO:0009693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plasma cell myeloma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0009693", "DOID:9538", "OMIM:254500", "orphanet:29073", "EFO:0001378", "UMLS:C0026764", "MESH:D009101", "MEDDRA:10028228", "MEDDRA:10028566", "MEDDRA:10028568", "MEDDRA:10028569", "MEDDRA:10034613", "MEDDRA:10035226", "MEDDRA:10074470", "NCIT:C3242", "SNOMEDCT:109989006", "SNOMEDCT:1162576007", "SNOMEDCT:55921005", "medgen:10122", "icd11.foundation:1582389689", "icd11.foundation:526287100", "ICD10:C90.0", "ICD9:203.0", "HP:0006775"], "information_content": 67.7}
{"id": "MONDO:0004960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paraproteinemia", "equivalent_identifiers": ["MONDO:0004960", "EFO:0000203", "UMLS:C0030489", "UMLS:C1136085", "MESH:D010265", "MEDDRA:10033896", "MEDDRA:10033897", "MEDDRA:10060880", "MEDDRA:10061333", "NCIT:C27468", "NCIT:C35548", "SNOMEDCT:109983007", "medgen:210153", "HP:0031047"], "information_content": 75.0}
{"id": "MONDO:0060621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "equivalent_identifiers": ["MONDO:0060621", "OMIM:617802", "EFO:0009644", "UMLS:C4540493", "medgen:1615361"], "information_content": 100.0}
{"id": "HP:0008513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral conductive hearing impairment", "equivalent_identifiers": ["HP:0008513", "UMLS:C0452136", "SNOMEDCT:194417009"], "information_content": 100.0}
{"id": "MONDO:0859573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bent bone dysplasia syndrome 2", "equivalent_identifiers": ["MONDO:0859573", "DOID:0060993", "OMIM:620076", "UMLS:C5774233", "medgen:1824006"], "information_content": 100.0}
{"id": "MONDO:0010382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fragile X-associated tremor/ataxia syndrome", "equivalent_identifiers": ["MONDO:0010382", "DOID:0050879", "OMIM:300623", "orphanet:93256", "UMLS:C1839780", "MESH:C564105", "NCIT:C126566", "SNOMEDCT:448045004", "medgen:333403"], "information_content": 100.0}
{"id": "MONDO:0030936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, progressive myoclonic, 12", "equivalent_identifiers": ["MONDO:0030936", "OMIM:619191", "UMLS:C5543069", "medgen:1778162"], "information_content": 100.0}
{"id": "MONDO:0014427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 20", "equivalent_identifiers": ["MONDO:0014427", "DOID:0111026", "OMIM:615973", "UMLS:C4014856", "medgen:863293"], "information_content": 100.0}
{"id": "MONDO:0958224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, porphyria-related", "equivalent_identifiers": ["MONDO:0958224", "OMIM:620704", "UMLS:C5935574", "medgen:1859316"], "information_content": 100.0}
{"id": "HP:6000536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary coproporphyrin level", "equivalent_identifiers": ["HP:6000536", "UMLS:C5937299"], "information_content": 100.0}
{"id": "HP:0031890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urine urobilinogen", "equivalent_identifiers": ["HP:0031890", "UMLS:C2938867", "MEDDRA:10070479"], "information_content": 100.0}
{"id": "HP:0002951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of cerebellar vermis", "equivalent_identifiers": ["HP:0002951", "UMLS:C4025667"], "information_content": 100.0}
{"id": "HP:0032002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orange urine", "equivalent_identifiers": ["HP:0032002", "UMLS:C0427825", "SNOMEDCT:167233008"], "information_content": 100.0}
{"id": "HP:4000199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte porphobilinogen deaminase activity", "equivalent_identifiers": ["HP:4000199", "UMLS:C5872948"], "information_content": 100.0}
{"id": "MONDO:0011961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 1B", "equivalent_identifiers": ["MONDO:0011961", "DOID:0070148", "OMIM:608088", "orphanet:139564", "UMLS:C1842586", "MESH:C564296", "SNOMEDCT:717825008", "medgen:330880"], "information_content": 100.0}
{"id": "MONDO:0030933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 37", "equivalent_identifiers": ["MONDO:0030933", "OMIM:619185", "UMLS:C5543064", "medgen:1786742"], "information_content": 100.0}
{"id": "MONDO:0007946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "jaw-winking syndrome", "equivalent_identifiers": ["MONDO:0007946", "DOID:560", "OMIM:154600", "orphanet:91412", "UMLS:C0266521", "MESH:C535908", "MEDDRA:10000150", "MEDDRA:10064583", "SNOMEDCT:5127009", "medgen:120582", "icd11.foundation:590216180", "ICD10:Q07.8", "ICD9:374.43", "HP:0025186"], "information_content": 92.8}
{"id": "MONDO:0040500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycosylphosphatidylinositol biosynthesis defect 16", "equivalent_identifiers": ["MONDO:0040500", "DOID:0081223", "OMIM:617816", "UMLS:C4540521", "medgen:1628197"], "information_content": 100.0}
{"id": "MONDO:0008181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmaris longus muscle, absence of", "equivalent_identifiers": ["MONDO:0008181", "OMIM:167600", "UMLS:C1868661", "medgen:357025"], "information_content": 100.0}
{"id": "MONDO:0100217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2", "equivalent_identifiers": ["MONDO:0100217", "DOID:0070478", "OMIM:620062", "UMLS:C5774223", "medgen:1823996"], "information_content": 100.0}
{"id": "HP:0012413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hutchinson sign", "equivalent_identifiers": ["HP:0012413", "UMLS:C0020186", "UMLS:C1444627", "UMLS:C4022912", "MEDDRA:10020475", "SNOMEDCT:410500004", "SNOMEDCT:86443005"], "information_content": 100.0}
{"id": "MONDO:0012433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome 6", "equivalent_identifiers": ["MONDO:0012433", "OMIM:610189", "UMLS:C1857779", "MESH:C565708", "medgen:387907"], "information_content": 100.0}
{"id": "MONDO:0030726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 9, autosomal dominant", "equivalent_identifiers": ["MONDO:0030726", "OMIM:619813", "UMLS:C5676954", "medgen:1802793"], "information_content": 100.0}
{"id": "HP:0410253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myeloid maturation arrest", "equivalent_identifiers": ["HP:0410253", "UMLS:C0151787", "MEDDRA:10003111", "MEDDRA:10026942", "MEDDRA:10028560"], "information_content": 100.0}
{"id": "MONDO:0013053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type", "equivalent_identifiers": ["MONDO:0013053", "OMIM:612946", "orphanet:217026", "UMLS:C2751878", "MESH:C567850", "SNOMEDCT:719395001", "medgen:414129"], "information_content": 100.0}
{"id": "MONDO:0008630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary bladder, atony of", "equivalent_identifiers": ["MONDO:0008630", "OMIM:191800", "UMLS:C5231389", "medgen:1684829"], "information_content": 100.0}
{"id": "MONDO:0013278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 3", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0013278", "DOID:0070208", "OMIM:613480", "UMLS:C4747646", "medgen:1652857"], "information_content": 100.0}
{"id": "MONDO:0014956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chitayat syndrome", "equivalent_identifiers": ["MONDO:0014956", "OMIM:617180", "UMLS:C4310679", "medgen:934646"], "information_content": 100.0}
{"id": "HP:0030367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger hyperphalangy", "equivalent_identifiers": ["HP:0030367", "UMLS:C4072906"], "information_content": 90.9}
{"id": "HP:0032965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interstitial emphysema", "equivalent_identifiers": ["HP:0032965"], "information_content": 100.0}
{"id": "MONDO:0008150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoglophonic dwarfism", "equivalent_identifiers": ["MONDO:0008150", "DOID:0111532", "OMIM:166250", "orphanet:2645", "UMLS:C0432283", "MESH:C536050", "SNOMEDCT:254144002", "medgen:96592"], "information_content": 100.0}
{"id": "MONDO:0014965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 11", "equivalent_identifiers": ["MONDO:0014965", "OMIM:617194", "UMLS:C4310670", "medgen:934637"], "information_content": 100.0}
{"id": "MONDO:0009027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cramps, familial adolescent", "equivalent_identifiers": ["MONDO:0009027", "OMIM:218050", "UMLS:C1857533", "medgen:347475"], "information_content": 100.0}
{"id": "MONDO:0013059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 5", "equivalent_identifiers": ["MONDO:0013059", "OMIM:612952", "UMLS:C2749659", "MESH:C535608", "NCIT:C168564", "medgen:413116"], "information_content": 100.0}
{"id": "HP:0030356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating interferon-gamma concentration", "equivalent_identifiers": ["HP:0030356", "UMLS:C4072900"], "information_content": 100.0}
{"id": "HP:0007321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep white matter hypodensities", "equivalent_identifiers": ["HP:0007321", "UMLS:C1856979"], "information_content": 100.0}
{"id": "HP:0200149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CSF lymphocytic pleiocytosis", "equivalent_identifiers": ["HP:0200149", "UMLS:C0427877", "SNOMEDCT:167719009"], "information_content": 95.4}
{"id": "HP:0009710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chilblains", "equivalent_identifiers": ["HP:0009710", "NCIT:C84631", "UMLS:C0008058", "UMLS:C4024224", "MEDDRA:10008508", "MEDDRA:10008528", "MEDDRA:10034698", "MEDDRA:10079820", "SNOMEDCT:37869000", "MESH:D002647"], "information_content": 100.0}
{"id": "OMIM:613494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 4", "equivalent_identifiers": ["OMIM:613494", "UMLS:C3150739"]}
{"id": "MONDO:0009629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Desbuquois dysplasia 1", "equivalent_identifiers": ["MONDO:0009629", "OMIM:251450", "UMLS:C4012146", "medgen:860583"], "information_content": 100.0}
{"id": "HP:0010097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial duplication of the distal phalanx of the hallux", "equivalent_identifiers": ["HP:0010097", "UMLS:C4021337"], "information_content": 100.0}
{"id": "HP:0005067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal fibular overgrowth", "equivalent_identifiers": ["HP:0005067", "UMLS:C2673395"], "information_content": 100.0}
{"id": "HP:0008082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medial deviation of the foot", "equivalent_identifiers": ["HP:0008082", "UMLS:C2673401"], "information_content": 100.0}
{"id": "HP:0009774", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped phalanges of the hand", "equivalent_identifiers": ["HP:0009774", "UMLS:C2673397"], "information_content": 78.8}
{"id": "HP:0033102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monkey wrench femoral neck", "equivalent_identifiers": ["HP:0033102", "UMLS:C4014299"], "information_content": 100.0}
{"id": "HP:6000868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toe hyperphalangy", "equivalent_identifiers": ["HP:6000868", "UMLS:C5937581"], "information_content": 100.0}
{"id": "HP:0006243", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phalangeal dislocation", "equivalent_identifiers": ["HP:0006243", "UMLS:C2673396"], "information_content": 100.0}
{"id": "MONDO:0012648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isobutyryl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0012648", "OMIM:611283", "orphanet:79159", "UMLS:C1969809", "MESH:C535541", "NCIT:C129975", "SNOMEDCT:1306747001", "SNOMEDCT:445274004", "medgen:370754"], "information_content": 100.0}
{"id": "MONDO:0014672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 17", "equivalent_identifiers": ["MONDO:0014672", "DOID:0110338", "OMIM:616507", "UMLS:C4225301", "medgen:903845"], "information_content": 100.0}
{"id": "HP:0006470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin long bone diaphyses", "equivalent_identifiers": ["HP:0006470", "UMLS:C1859449"], "information_content": 100.0}
{"id": "HP:0030746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intraventricular hemorrhage", "equivalent_identifiers": ["HP:0030746", "NCIT:C50896", "UMLS:C0240059", "MEDDRA:10022840", "MEDDRA:10022842", "MEDDRA:10055299", "MEDDRA:10071830", "SNOMEDCT:23276006"], "information_content": 85.5}
{"id": "HP:0006086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin metacarpal cortices", "equivalent_identifiers": ["HP:0006086", "UMLS:C1850160"], "information_content": 100.0}
{"id": "MONDO:0009248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fructose and galactose intolerance", "equivalent_identifiers": ["MONDO:0009248", "OMIM:229500", "UMLS:C1856686", "MESH:C565558", "medgen:341598"], "information_content": 100.0}
{"id": "MONDO:0009249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary fructose intolerance", "equivalent_identifiers": ["MONDO:0009249", "DOID:9869", "OMIM:229600", "orphanet:469", "UMLS:C0016751", "MESH:D005633", "MEDDRA:10017397", "MEDDRA:10019878", "MEDDRA:10072104", "NCIT:C84720", "SNOMEDCT:20052008", "medgen:42105", "icd11.foundation:1925240365", "ICD10:E74.12", "ICD9:271.2", "HP:0005973"], "information_content": 100.0}
{"id": "HP:0004919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galactose intolerance", "equivalent_identifiers": ["HP:0004919"], "information_content": 100.0}
{"id": "MONDO:0013222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miyoshi muscular dystrophy 3", "equivalent_identifiers": ["MONDO:0013222", "DOID:0070201", "OMIM:613319", "orphanet:399096", "UMLS:C2750076", "MESH:C567645", "SNOMEDCT:783166000", "medgen:413750"], "information_content": 100.0}
{"id": "MONDO:0014339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 16", "equivalent_identifiers": ["MONDO:0014339", "DOID:0080029", "OMIM:615768", "orphanet:412057", "UMLS:C5190574", "SNOMEDCT:782719004", "medgen:1674542"], "information_content": 100.0}
{"id": "MONDO:0009826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xh antigen", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009826", "OMIM:260100", "UMLS:C1850104", "MESH:C009691", "medgen:342415"], "information_content": 100.0}
{"id": "HP:0010701", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating immunoglobulin concentration", "equivalent_identifiers": ["HP:0010701", "UMLS:C1855755"], "information_content": 65.3}
{"id": "MONDO:0019947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rippling muscle disease 2", "equivalent_identifiers": ["MONDO:0019947", "DOID:0060255", "OMIM:606072", "orphanet:97238", "UMLS:C1832560", "NCIT:C148325", "medgen:371357"], "information_content": 100.0}
{"id": "HP:0003760", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Percussion-induced rapid rolling muscle contractions", "equivalent_identifiers": ["HP:0003760", "UMLS:C4280804"], "information_content": 100.0}
{"id": "HP:0003559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle hyperirritability", "equivalent_identifiers": ["HP:0003559", "UMLS:C1853701"], "information_content": 100.0}
{"id": "MONDO:0011136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quebec platelet disorder", "equivalent_identifiers": ["MONDO:0011136", "DOID:0111050", "OMIM:601709", "orphanet:220436", "UMLS:C1866423", "MESH:C536260", "medgen:356528", "icd11.foundation:1618741944"], "information_content": 100.0}
{"id": "MONDO:0030870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 17", "equivalent_identifiers": ["MONDO:0030870", "DOID:0080874", "OMIM:619146", "UMLS:C5436889", "medgen:1748767"], "information_content": 100.0}
{"id": "HP:0031100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating inhibin B concentration", "equivalent_identifiers": ["HP:0031100", "UMLS:C4476969"], "information_content": 100.0}
{"id": "MONDO:0013762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoic acid synthetase deficiency", "equivalent_identifiers": ["MONDO:0013762", "OMIM:614462", "orphanet:401859", "UMLS:C3280887", "medgen:482517"], "information_content": 100.0}
{"id": "MONDO:0007920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 5", "equivalent_identifiers": ["MONDO:0007920", "DOID:0070213", "OMIM:153200", "orphanet:90186", "UMLS:C0238261", "UMLS:C1704424", "UMLS:C4746631", "MESH:C562467", "MEDDRA:10025285", "MEDDRA:10054461", "SNOMEDCT:400040008", "SNOMEDCT:77123007", "medgen:1648463", "ICD10:I89.0"], "information_content": 100.0}
{"id": "HP:0003759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of lymphatic vessels", "equivalent_identifiers": ["HP:0003759", "UMLS:C4025570"], "information_content": 95.4}
{"id": "MONDO:0010742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pentalogy of Cantrell", "equivalent_identifiers": ["MONDO:0010742", "OMIM:313850", "orphanet:1335", "UMLS:C0559483", "UMLS:C1839173", "MESH:C564054", "MESH:D058502", "NCIT:C99011", "SNOMEDCT:281587000", "medgen:107540"], "information_content": 100.0}
{"id": "MONDO:0018664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopia cordis", "equivalent_identifiers": ["MONDO:0018664", "orphanet:448270", "UMLS:C0013580", "MESH:D054083", "MEDDRA:10014144", "NCIT:C111643", "SNOMEDCT:78250005", "medgen:41703", "icd11.foundation:285576893", "HP:0001683"], "information_content": 88.2}
{"id": "MONDO:0011206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventriculomegaly with defects of the radius and kidney", "equivalent_identifiers": ["MONDO:0011206", "OMIM:602200", "UMLS:C1865780", "MESH:C566565", "medgen:400843"], "information_content": 100.0}
{"id": "HP:0003956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowed forearm bones", "equivalent_identifiers": ["HP:0003956", "UMLS:C4025481"], "information_content": 88.2}
{"id": "HP:0009821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Forearm undergrowth", "equivalent_identifiers": ["HP:0009821", "UMLS:C1855299"], "information_content": 84.2}
{"id": "MONDO:0013002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 9", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013002", "DOID:0111020", "OMIM:612775", "UMLS:C1423873", "medgen:244692"], "information_content": 100.0}
{"id": "MONDO:0011360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 14", "equivalent_identifiers": ["MONDO:0011360", "DOID:0110469", "OMIM:603678", "UMLS:C1863613", "MESH:C566344", "medgen:350931"], "information_content": 100.0}
{"id": "MONDO:0011396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "loricrin keratoderma", "equivalent_identifiers": ["MONDO:0011396", "OMIM:604117", "orphanet:79395", "UMLS:C1858805", "MESH:C565826", "SNOMEDCT:717183001", "medgen:395099"], "information_content": 100.0}
{"id": "MONDO:0024529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MVP1", "equivalent_identifiers": ["MONDO:0024529", "OMIM:157700", "UMLS:C1834819", "MESH:C563573", "medgen:320443"], "information_content": 100.0}
{"id": "HP:0008433", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reversed usual vertebral column curves", "equivalent_identifiers": ["HP:0008433", "UMLS:C4024676"], "information_content": 100.0}
{"id": "MONDO:0014017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with autism and macrocephaly", "equivalent_identifiers": ["MONDO:0014017", "OMIM:615032", "orphanet:642675", "UMLS:C3554373", "medgen:767287"], "information_content": 100.0}
{"id": "HP:0031874", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late chronotype", "equivalent_identifiers": ["HP:0031874", "UMLS:C1303139", "SNOMEDCT:401161007"], "information_content": 100.0}
{"id": "HP:4000081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced production of gestures", "equivalent_identifiers": ["HP:4000081", "UMLS:C5826844"], "information_content": 90.9}
{"id": "HP:0032012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heterotropia", "equivalent_identifiers": ["HP:0032012"], "information_content": 76.2}
{"id": "HP:0006889", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intellectual disability, borderline", "equivalent_identifiers": ["HP:0006889", "UMLS:C0006009", "SNOMEDCT:77287004"], "information_content": 100.0}
{"id": "HP:5200018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stereotypic upper-extremity movements", "equivalent_identifiers": ["HP:5200018"], "information_content": 90.9}
{"id": "HP:4000073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pronoun reversal", "equivalent_identifiers": ["HP:4000073", "UMLS:C5676854"], "information_content": 100.0}
{"id": "HP:0400000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tall chin", "equivalent_identifiers": ["HP:0400000", "UMLS:C3532221", "UMLS:C4021875", "SNOMEDCT:471397004"], "information_content": 100.0}
{"id": "MONDO:0013266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 20", "equivalent_identifiers": ["MONDO:0013266", "DOID:0070050", "OMIM:613443", "orphanet:664410", "UMLS:C3150700", "UMLS:C4225434", "medgen:462050"], "information_content": 100.0}
{"id": "MONDO:0859304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction", "equivalent_identifiers": ["MONDO:0859304", "OMIM:620089", "UMLS:C5774240", "medgen:1824013"], "information_content": 100.0}
{"id": "HP:0410309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alpha-aminoadipic aciduria", "equivalent_identifiers": ["HP:0410309", "UMLS:C4011937"], "information_content": 100.0}
{"id": "HP:0034008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opto-chiasmatic atrophy", "equivalent_identifiers": ["HP:0034008", "UMLS:C5558380"], "information_content": 100.0}
{"id": "MONDO:0030475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 11, autosomal, with male infertility", "equivalent_identifiers": ["MONDO:0030475", "DOID:0051025", "OMIM:619608", "UMLS:C5562019", "medgen:1794229"], "information_content": 100.0}
{"id": "MONDO:0020437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect, ostium primum type", "equivalent_identifiers": ["MONDO:0020437", "orphanet:99106", "UMLS:C0031192", "UMLS:C0344735", "UMLS:C0741296", "UMLS:C5680294", "MEDDRA:10031301", "NCIT:C34921", "SNOMEDCT:17718000", "SNOMEDCT:253373002", "medgen:1825952", "icd11.foundation:1159570489", "HP:0010445"], "information_content": 100.0}
{"id": "MONDO:0000950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asthenopia", "equivalent_identifiers": ["MONDO:0000950", "UMLS:C0004095", "MESH:D001248", "MEDDRA:10003552", "MEDDRA:10015969", "MEDDRA:10043887", "MEDDRA:10043888", "MEDDRA:10049755", "MEDDRA:10088356", "SNOMEDCT:46640001", "SNOMEDCT:70323002", "medgen:2108", "HP:0031590"], "information_content": 100.0}
{"id": "MONDO:0010431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 10", "equivalent_identifiers": ["MONDO:0010431", "DOID:0110981", "OMIM:300804", "UMLS:C2749019", "MESH:C567582", "medgen:440688"], "information_content": 100.0}
{"id": "HP:0025161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frequent temper tantrums", "equivalent_identifiers": ["HP:0025161", "UMLS:C4476626"], "information_content": 100.0}
{"id": "MONDO:0009668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal multiple pterygium syndrome", "equivalent_identifiers": ["MONDO:0009668", "OMIM:253290", "orphanet:33108", "UMLS:C1854678", "NCIT:C101038", "SNOMEDCT:60192008", "medgen:381473"], "information_content": 95.4}
{"id": "MONDO:0014939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 20", "equivalent_identifiers": ["MONDO:0014939", "DOID:0110661", "OMIM:617143", "UMLS:C4310694", "medgen:934661"], "information_content": 100.0}
{"id": "MONDO:0032646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital anomalies of kidney and urinary tract 3", "equivalent_identifiers": ["MONDO:0032646", "OMIM:618270", "UMLS:C4748921", "medgen:1648427"], "information_content": 100.0}
{"id": "OMIM:613325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhabdoid Tumor Predisposition Syndrome 2", "equivalent_identifiers": ["OMIM:613325", "UMLS:C2750074", "MESH:C567643", "NCIT:C178394"], "information_content": 92.8}
{"id": "MONDO:0020560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical teratoid rhabdoid tumor", "equivalent_identifiers": ["MONDO:0020560", "DOID:2129", "orphanet:99966", "EFO:1002008", "UMLS:C1266184", "UMLS:CN207484", "NCIT:C6906", "SNOMEDCT:128792003", "medgen:226853", "HP:0034401"], "information_content": 80.9}
{"id": "MONDO:0002729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdoid tumor of the kidney", "equivalent_identifiers": ["MONDO:0002729", "DOID:3674", "EFO:1000512", "UMLS:C0854917", "MEDDRA:10039019", "MEDDRA:10074121", "NCIT:C8715", "medgen:208930", "HP:0034402"], "information_content": 89.4}
{"id": "MONDO:0010186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D-dependent rickets, type 2A", "equivalent_identifiers": ["MONDO:0010186", "DOID:0080884", "OMIM:277440", "UMLS:C0342646", "MESH:C562794", "NCIT:C131075", "SNOMEDCT:237894002", "medgen:90989"], "information_content": 100.0}
{"id": "HP:0003106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subperiosteal bone resorption", "equivalent_identifiers": ["HP:0003106", "UMLS:C1848541", "UMLS:C4476534"], "information_content": 100.0}
{"id": "MONDO:0006964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary hyperparathyroidism", "equivalent_identifiers": ["MONDO:0006964", "DOID:12466", "EFO:1001173", "UMLS:C0020503", "MESH:D006962", "MEDDRA:10020708", "NCIT:C113335", "SNOMEDCT:91478007", "medgen:9368", "icd11.foundation:1442752937", "HP:0000867"], "information_content": 88.2}
{"id": "MONDO:0014550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 15", "equivalent_identifiers": ["MONDO:0014550", "DOID:0110656", "OMIM:616249", "UMLS:C4015695", "medgen:864132"], "information_content": 100.0}
{"id": "HP:0034306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular bigeminy", "equivalent_identifiers": ["HP:0034306", "UMLS:C0262662", "MEDDRA:10050779", "SNOMEDCT:11157007"], "information_content": 100.0}
{"id": "HP:0034305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2:1 atrioventricular block", "equivalent_identifiers": ["HP:0034305", "UMLS:C5240044"], "information_content": 100.0}
{"id": "MONDO:0014944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-brachydactyly-obesity-global developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014944", "OMIM:617157", "orphanet:464288", "UMLS:C4310689", "medgen:934656"], "information_content": 100.0}
{"id": "MONDO:0032641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mirror movements 4", "equivalent_identifiers": ["MONDO:0032641", "OMIM:618264", "UMLS:C4748869", "medgen:1648342"], "information_content": 100.0}
{"id": "MONDO:0009927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3MC syndrome 2", "equivalent_identifiers": ["MONDO:0009927", "DOID:0060576", "OMIM:265050", "EFO:1001977", "UMLS:C0796279", "MESH:C535586", "medgen:167115"], "information_content": 100.0}
{"id": "HP:0005243", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial abdominal muscle agenesis", "equivalent_identifiers": ["HP:0005243", "UMLS:C4025228"], "information_content": 100.0}
{"id": "HP:0002825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caudal appendage", "equivalent_identifiers": ["HP:0002825", "UMLS:C3277117"], "information_content": 100.0}
{"id": "MONDO:0004573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ariboflavinosis", "equivalent_identifiers": ["MONDO:0004573", "DOID:8454", "OMIM:615026", "UMLS:C0035528", "UMLS:C5779638", "UMLS:C5886861", "MESH:D012257", "MEDDRA:10003095", "MEDDRA:10039118", "MEDDRA:10047612", "SNOMEDCT:20307000", "medgen:1830329", "ICD10:E53.0", "ICD9:266.0", "HP:0100504"], "information_content": 95.4}
{"id": "MONDO:0009857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent Mullerian duct syndrome", "equivalent_identifiers": ["MONDO:0009857", "DOID:0050791", "OMIM:261550", "orphanet:2856", "UMLS:C1849930", "MESH:C536665", "MEDDRA:10081352", "NCIT:C120188", "SNOMEDCT:702358005", "medgen:342367", "icd11.foundation:697796373"], "information_content": 92.8}
{"id": "MONDO:0013700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic triacylglycerol lipase deficiency", "equivalent_identifiers": ["MONDO:0013700", "OMIM:614338", "orphanet:309031", "UMLS:C0268240", "UMLS:C3280527", "UMLS:C3280528", "UMLS:C3280529", "UMLS:C3280530", "NCIT:C129030", "SNOMEDCT:78960005", "medgen:482157", "icd11.foundation:349070670"], "information_content": 92.8}
{"id": "HP:0012236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated sweat chloride", "equivalent_identifiers": ["HP:0012236", "UMLS:C1856646"], "information_content": 100.0}
{"id": "HP:0034362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dull foveal reflex", "equivalent_identifiers": ["HP:0034362", "UMLS:C5706191"], "information_content": 100.0}
{"id": "MONDO:0013272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 14q11-q22 deletion syndrome", "equivalent_identifiers": ["MONDO:0013272", "DOID:0060392", "OMIM:613457", "orphanet:261120", "UMLS:C3150707", "UMLS:C4304999", "SNOMEDCT:719047001", "medgen:462057"], "information_content": 100.0}
{"id": "HP:0100960", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lateral ventricular asymmetry", "equivalent_identifiers": ["HP:0100960", "UMLS:C4021909"], "information_content": 100.0}
{"id": "MONDO:0025354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, X-linked, 3", "equivalent_identifiers": ["MONDO:0025354", "DOID:0112274", "OMIM:301059", "UMLS:C5542347", "medgen:1784059"], "information_content": 100.0}
{"id": "MONDO:0012211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MPDU1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012211", "DOID:0080558", "OMIM:609180", "orphanet:79323", "UMLS:C1836669", "MESH:C535744", "NCIT:C126872", "SNOMEDCT:724096007", "medgen:322968"], "information_content": 100.0}
{"id": "MONDO:0957788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 18a, autosomal dominant", "equivalent_identifiers": ["MONDO:0957788", "OMIM:620512", "UMLS:C5882694", "medgen:1844217"], "information_content": 100.0}
{"id": "MONDO:0010156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Troyer syndrome", "equivalent_identifiers": ["MONDO:0010156", "DOID:0050886", "OMIM:275900", "orphanet:101000", "UMLS:C0393559", "MESH:C536858", "SNOMEDCT:230264003", "medgen:97950", "ICD10:G11.4"], "information_content": 100.0}
{"id": "HP:0006938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired vibration sensation at ankles", "equivalent_identifiers": ["HP:0006938", "UMLS:C1854372"], "information_content": 100.0}
{"id": "HP:0005639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperextensible hand joints", "equivalent_identifiers": ["HP:0005639", "UMLS:C1856877"], "information_content": 95.4}
{"id": "MONDO:0008738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aganglionosis, total intestinal", "equivalent_identifiers": ["MONDO:0008738", "OMIM:202550", "UMLS:C0345240", "MESH:C538058", "NCIT:C101074", "SNOMEDCT:204745000", "medgen:83378", "HP:0005241"], "information_content": 95.4}
{"id": "MONDO:0008745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 1A", "equivalent_identifiers": ["MONDO:0008745", "DOID:0070094", "OMIM:203100", "orphanet:79431", "UMLS:C4551504", "NCIT:C168731", "SNOMEDCT:6483008", "medgen:1643910", "icd11.foundation:1168847652"], "information_content": 95.4}
{"id": "HP:0011364", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White hair", "equivalent_identifiers": ["HP:0011364", "UMLS:C0239804", "SNOMEDCT:297993006"], "information_content": 100.0}
{"id": "HP:0000539", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of refraction", "equivalent_identifiers": ["HP:0000539", "UMLS:C4025843"], "information_content": 79.3}
{"id": "HP:0200098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent skin pigmentation", "equivalent_identifiers": ["HP:0200098", "UMLS:C2673954"], "information_content": 88.2}
{"id": "MONDO:0009615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "equivalent_identifiers": ["MONDO:0009615", "OMIM:251120", "orphanet:308425", "UMLS:C1855100", "UMLS:C1855101", "UMLS:C4707328", "MESH:C565386", "MESH:C565387", "SNOMEDCT:1293018007", "SNOMEDCT:765137006", "medgen:344419"], "information_content": 100.0}
{"id": "HP:0031544", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating palmitoleylcarnitine concentration", "equivalent_identifiers": ["HP:0031544", "UMLS:C4531053"], "information_content": 100.0}
{"id": "MONDO:0800452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital amegakaryocytic thrombocytopenia 1", "equivalent_identifiers": ["MONDO:0800452", "DOID:0061005", "DOID:0090118", "OMIM:604498", "orphanet:3319", "UMLS:C5882667", "MESH:C535982", "NCIT:C115207", "SNOMEDCT:716336002", "medgen:1845022"], "information_content": 100.0}
{"id": "MONDO:0014269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 19", "equivalent_identifiers": ["MONDO:0014269", "DOID:0111476", "OMIM:615595", "orphanet:397593", "UMLS:C3810055", "medgen:816385"], "information_content": 100.0}
{"id": "HP:0030774", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitochondrial swelling", "equivalent_identifiers": ["HP:0030774", "UMLS:C0026244", "SNOMEDCT:125429001", "MESH:D008933"], "information_content": 100.0}
{"id": "MONDO:0014835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "striatal degeneration, autosomal dominant 2", "equivalent_identifiers": ["MONDO:0014835", "DOID:0060998", "OMIM:616922", "UMLS:C4310791", "medgen:934758"], "information_content": 100.0}
{"id": "HP:0010994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal corpus striatum morphology", "equivalent_identifiers": ["HP:0010994", "UMLS:C4023607"], "information_content": 81.3}
{"id": "MONDO:0012617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 9", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012617", "DOID:0081184", "OMIM:611095", "UMLS:C1970195", "MESH:C567014", "medgen:369678"], "information_content": 100.0}
{"id": "MONDO:0010709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset parkinsonism-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010709", "DOID:0111781", "OMIM:311510", "orphanet:2379", "UMLS:C0796195", "MESH:C537179", "NCIT:C184991", "SNOMEDCT:716107009", "medgen:208674", "icd11.foundation:937544163"], "information_content": 100.0}
{"id": "MONDO:0060764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetraamelia syndrome 1", "equivalent_identifiers": ["MONDO:0060764", "DOID:0112192", "OMIM:273395", "UMLS:C4012268", "medgen:860705"], "information_content": 100.0}
{"id": "MONDO:0015195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atresia of urethra", "equivalent_identifiers": ["MONDO:0015195", "orphanet:105", "UMLS:C0345345", "UMLS:C1610065", "MEDDRA:10064895", "SNOMEDCT:253902002", "medgen:576882", "HP:0000068"], "information_content": 90.9}
{"id": "HP:0000782", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal scapula morphology", "equivalent_identifiers": ["HP:0000782", "UMLS:C4025828"], "information_content": 78.3}
{"id": "HP:0000042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent external genitalia", "equivalent_identifiers": ["HP:0000042", "UMLS:C1848869"], "information_content": 92.8}
{"id": "MONDO:0009264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastroschisis", "equivalent_identifiers": ["MONDO:0009264", "DOID:11044", "OMIM:230750", "orphanet:2368", "EFO:1000949", "UMLS:C0265706", "MESH:D020139", "MEDDRA:10018046", "NCIT:C84725", "SNOMEDCT:72951007", "medgen:82721", "icd11.foundation:551758329", "ICD10:Q79.3", "ICD9:756.73", "HP:0001543"], "information_content": 95.4}
{"id": "HP:0011743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal gland agenesis", "equivalent_identifiers": ["HP:0011743", "UMLS:C0266273", "SNOMEDCT:702615004", "SNOMEDCT:83190008"], "information_content": 95.4}
{"id": "HP:0005316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral pulmonary vessel aplasia", "equivalent_identifiers": ["HP:0005316", "UMLS:C1848877"], "information_content": 100.0}
{"id": "HP:0030505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nummular pigmentation of the fundus", "equivalent_identifiers": ["HP:0030505", "UMLS:C4072990"], "information_content": 100.0}
{"id": "HP:0007793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Granular macular appearance", "equivalent_identifiers": ["HP:0007793", "UMLS:C4024799"], "information_content": 100.0}
{"id": "MONDO:0013919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 12", "equivalent_identifiers": ["MONDO:0013919", "OMIM:614847", "UMLS:C3553859", "medgen:766773"], "information_content": 100.0}
{"id": "MONDO:0859082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia, X-linked, due to factor 8 defect", "equivalent_identifiers": ["MONDO:0859082", "OMIM:301071", "UMLS:C5676879", "medgen:1805414"], "information_content": 100.0}
{"id": "HP:0030977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased factor VIII activity", "equivalent_identifiers": ["HP:0030977", "UMLS:C4476890", "MEDDRA:10087445"], "information_content": 100.0}
{"id": "MONDO:0007530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon", "equivalent_identifiers": ["MONDO:0007530", "OMIM:130200", "UMLS:C1851757", "medgen:377516"], "information_content": 100.0}
{"id": "MONDO:0054561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anauxetic dysplasia 2", "equivalent_identifiers": ["MONDO:0054561", "DOID:0080962", "OMIM:617396", "UMLS:C4479357", "medgen:1384439"], "information_content": 100.0}
{"id": "MONDO:0008771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1G", "equivalent_identifiers": ["MONDO:0008771", "DOID:0110066", "OMIM:204690", "orphanet:1031", "UMLS:C2931783", "MESH:C538241", "SNOMEDCT:109477002", "medgen:419162"], "information_content": 100.0}
{"id": "HP:0006302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dagger-shaped pulp calcifications", "equivalent_identifiers": ["HP:0006302", "UMLS:C4025067"], "information_content": 100.0}
{"id": "MONDO:0007852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma-deafness syndrome", "equivalent_identifiers": ["MONDO:0007852", "DOID:0111505", "OMIM:148350", "orphanet:2202", "UMLS:C1835672", "MESH:C536152", "SNOMEDCT:722203001", "medgen:332030"], "information_content": 100.0}
{"id": "MONDO:0014479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis 8, disseminated superficial actinic type", "equivalent_identifiers": ["MONDO:0014479", "OMIM:616063", "UMLS:C4015128", "medgen:863565"], "information_content": 100.0}
{"id": "MONDO:0859157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visceral myopathy 2", "equivalent_identifiers": ["MONDO:0859157", "OMIM:619350", "UMLS:C5543466", "medgen:1783630"], "information_content": 100.0}
{"id": "HP:0031857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ineffective esophageal peristalsis", "equivalent_identifiers": ["HP:0031857", "UMLS:C4703577"], "information_content": 95.4}
{"id": "MONDO:0011595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic congenital nail disorder 7", "equivalent_identifiers": ["MONDO:0011595", "DOID:0080085", "OMIM:605779", "orphanet:79144", "UMLS:C1274658", "UMLS:C1853984", "UMLS:C5574953", "MESH:C538333", "SNOMEDCT:1254893000", "SNOMEDCT:403281007", "medgen:1803839"], "information_content": 100.0}
{"id": "HP:0030803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Platonychia", "equivalent_identifiers": ["HP:0030803", "UMLS:C1853986", "MEDDRA:10072590"], "information_content": 100.0}
{"id": "MONDO:0044660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "menstrual cycle-dependent periodic fever", "equivalent_identifiers": ["MONDO:0044660", "OMIM:614674", "orphanet:498251", "UMLS:C3553418", "SNOMEDCT:1169366007", "medgen:766332"], "information_content": 100.0}
{"id": "MONDO:0024522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, primary localized cutaneous, 1", "equivalent_identifiers": ["MONDO:0024522", "DOID:0080930", "OMIM:105250", "UMLS:C0268398", "UMLS:C4551501", "NCIT:C189282", "SNOMEDCT:111390002", "SNOMEDCT:237870002", "medgen:1639046"], "information_content": 92.8}
{"id": "HP:0100725", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lichenification", "equivalent_identifiers": ["HP:0100725", "NCIT:C111974", "UMLS:C0023653", "MEDDRA:10024438", "SNOMEDCT:19940005", "SNOMEDCT:402237006"], "information_content": 95.4}
{"id": "HP:0012309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous amyloidosis", "equivalent_identifiers": ["HP:0012309", "UMLS:C5779562", "SNOMEDCT:201337008", "SNOMEDCT:281882003"], "information_content": 90.9}
{"id": "MONDO:0012939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 8", "equivalent_identifiers": ["MONDO:0012939", "DOID:0111881", "OMIM:612563", "UMLS:C2675511", "MESH:C567253", "NCIT:C176917", "medgen:390817"], "information_content": 100.0}
{"id": "MONDO:0012315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 10q deletion syndrome", "equivalent_identifiers": ["MONDO:0012315", "DOID:0060390", "OMIM:609625", "orphanet:96148", "UMLS:C2674937", "UMLS:C4305277", "MESH:C567182", "SNOMEDCT:718687003", "medgen:436306", "ICD10:Q93.5"], "information_content": 100.0}
{"id": "MONDO:0014739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 97", "equivalent_identifiers": ["MONDO:0014739", "DOID:0110539", "OMIM:616705", "UMLS:C4084709", "medgen:899875"], "information_content": 100.0}
{"id": "MONDO:0030332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 46", "equivalent_identifiers": ["MONDO:0030332", "OMIM:619436", "UMLS:C5543646", "medgen:1780196"], "information_content": 100.0}
{"id": "MONDO:0032885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Isidor-Toutain type", "equivalent_identifiers": ["MONDO:0032885", "OMIM:618728", "UMLS:C5231478", "medgen:1684771"], "information_content": 100.0}
{"id": "HP:0003850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper-limb metaphyseal irregularity", "equivalent_identifiers": ["HP:0003850", "UMLS:C4021720"], "information_content": 88.2}
{"id": "HP:0003051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged metaphyses", "equivalent_identifiers": ["HP:0003051", "UMLS:C1855544"], "information_content": 79.0}
{"id": "HP:0030291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower-limb metaphyseal irregularity", "equivalent_identifiers": ["HP:0030291", "UMLS:C4022534"], "information_content": 89.4}
{"id": "MONDO:0012480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus, transient neonatal, 2", "equivalent_identifiers": ["MONDO:0012480", "OMIM:610374", "UMLS:C1835887", "MESH:C563672", "SNOMEDCT:609580007", "medgen:372150"], "information_content": 100.0}
{"id": "MONDO:0020525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient neonatal diabetes mellitus", "equivalent_identifiers": ["MONDO:0020525", "DOID:0060334", "UMLS:C0342273", "NCIT:C114899", "SNOMEDCT:237603002", "medgen:449530", "icd11.foundation:1596856936", "ICD10:P70.2", "HP:0008255"], "information_content": 90.9}
{"id": "MONDO:0030323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 31", "equivalent_identifiers": ["MONDO:0030323", "DOID:0070412", "OMIM:619422", "UMLS:C5543627", "medgen:1786855"], "information_content": 100.0}
{"id": "HP:0034007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior atrophy of corpus callosum", "equivalent_identifiers": ["HP:0034007", "UMLS:C5543630"], "information_content": 100.0}
{"id": "MONDO:0008931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cenani-Lenz syndactyly syndrome", "equivalent_identifiers": ["MONDO:0008931", "DOID:0060221", "DOID:0090015", "OMIM:212780", "orphanet:3258", "UMLS:C1859309", "MESH:C538150", "SNOMEDCT:720633009", "medgen:395226", "ICD10:Q78.4"], "information_content": 100.0}
{"id": "HP:0009701", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpal synostosis", "equivalent_identifiers": ["HP:0009701", "UMLS:C4021398"], "information_content": 81.3}
{"id": "MONDO:0009514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laurence-Moon syndrome", "equivalent_identifiers": ["MONDO:0009514", "DOID:1930", "OMIM:245800", "orphanet:2377", "UMLS:C0023138", "MESH:D007849", "MEDDRA:10056710", "NCIT:C34760", "SNOMEDCT:232059000", "medgen:44078", "icd11.foundation:458834940"], "information_content": 100.0}
{"id": "MONDO:0009835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subacute sclerosing panencephalitis", "equivalent_identifiers": ["MONDO:0009835", "DOID:8970", "OMIM:260470", "orphanet:2806", "EFO:0007502", "UMLS:C0038522", "MESH:D013344", "MEDDRA:10042297", "MEDDRA:10080799", "NCIT:C85171", "SNOMEDCT:192685000", "SNOMEDCT:359686005", "SNOMEDCT:416154000", "medgen:52527", "icd11.foundation:1098683540", "ICD10:A81.1", "ICD9:046.2"], "information_content": 100.0}
{"id": "MONDO:0012945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 11", "equivalent_identifiers": ["MONDO:0012945", "DOID:0060202", "OMIM:612577", "UMLS:C2675491", "MESH:C567244", "NCIT:C168753", "medgen:393399"], "information_content": 100.0}
{"id": "HP:0002493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper motor neuron dysfunction", "equivalent_identifiers": ["HP:0002493", "NCIT:C43245", "UMLS:C1504405", "UMLS:C1839042", "MEDDRA:10063636"], "information_content": 65.8}
{"id": "MONDO:0008840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia telangiectasia", "equivalent_identifiers": ["MONDO:0008840", "DOID:12704", "OMIM:208900", "orphanet:100", "UMLS:C0004135", "MESH:D001260", "MEDDRA:10003594", "NCIT:C2887", "SNOMEDCT:68504005", "medgen:439"], "information_content": 90.9}
{"id": "HP:0000134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Female hypogonadism", "equivalent_identifiers": ["HP:0000134", "UMLS:C0271578", "MEDDRA:10021010", "SNOMEDCT:16041008"], "information_content": 100.0}
{"id": "MONDO:0018908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-Hodgkin lymphoma", "equivalent_identifiers": ["MONDO:0018908", "DOID:0060060", "orphanet:547", "EFO:0005952", "UMLS:C0024305", "UMLS:C1622254", "UMLS:C1622813", "MESH:D008228", "MEDDRA:10025311", "MEDDRA:10029547", "MEDDRA:10029593", "NCIT:C3211", "SNOMEDCT:1172592001", "SNOMEDCT:128929007", "SNOMEDCT:188675007", "medgen:6160", "HP:0012539"], "information_content": 54.0}
{"id": "HP:0005357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Defective B cell differentiation", "equivalent_identifiers": ["HP:0005357", "UMLS:C1859624"], "information_content": 100.0}
{"id": "HP:0008669", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal spermatogenesis", "equivalent_identifiers": ["HP:0008669", "UMLS:C0520933", "UMLS:C4020789", "MEDDRA:10041486", "MEDDRA:10041493", "SNOMEDCT:4529005"], "information_content": 80.6}
{"id": "MONDO:0007726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hip dysplasia, Beukes type", "equivalent_identifiers": ["MONDO:0007726", "DOID:0111367", "OMIM:142669", "orphanet:2114", "UMLS:C1840572", "MESH:C564185", "SNOMEDCT:721148005", "medgen:333593"], "information_content": 100.0}
{"id": "HP:0008783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide proximal femoral metaphysis", "equivalent_identifiers": ["HP:0008783", "UMLS:C4024623"], "information_content": 100.0}
{"id": "MONDO:0009239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 24 without anosmia", "equivalent_identifiers": ["MONDO:0009239", "DOID:0090088", "OMIM:229070", "orphanet:52901", "UMLS:C1856716", "UMLS:C5574957", "MESH:C537070", "NCIT:C121142", "SNOMEDCT:758664007", "medgen:1806136", "ICD10:E23.6"], "information_content": 100.0}
{"id": "MONDO:0007134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cooks syndrome", "equivalent_identifiers": ["MONDO:0007134", "OMIM:106995", "orphanet:1487", "UMLS:C1862841", "MESH:C537766", "SNOMEDCT:720747002", "medgen:354848"], "information_content": 100.0}
{"id": "HP:0005793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all distal phalanges of the toes", "equivalent_identifiers": ["HP:0005793", "UMLS:C4025132"], "information_content": 100.0}
{"id": "MONDO:0012717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypomagnesemia 4", "equivalent_identifiers": ["MONDO:0012717", "DOID:0060882", "OMIM:611718", "UMLS:C2673648", "MESH:C567127", "medgen:388692"], "information_content": 100.0}
{"id": "MONDO:0007170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atresia of external auditory canal and conductive deafness", "equivalent_identifiers": ["MONDO:0007170", "OMIM:108760", "UMLS:C3502361", "medgen:502760"], "information_content": 100.0}
{"id": "HP:0005906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed pneumatization of the mastoid process", "equivalent_identifiers": ["HP:0005906", "UMLS:C4021617"], "information_content": 100.0}
{"id": "HP:0008773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the middle ear", "equivalent_identifiers": ["HP:0008773", "UMLS:C4021529"], "information_content": 100.0}
{"id": "MONDO:0013954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency", "equivalent_identifiers": ["MONDO:0013954", "DOID:0111950", "OMIM:614890", "orphanet:319558", "UMLS:C4013948", "medgen:862385"], "information_content": 100.0}
{"id": "MONDO:0011785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 19", "equivalent_identifiers": ["MONDO:0011785", "DOID:0110772", "OMIM:607152", "orphanet:100999", "UMLS:C1846685", "MESH:C536856", "SNOMEDCT:763375003", "medgen:335494"], "information_content": 100.0}
{"id": "MONDO:0015026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebroretinal microangiopathy with calcifications and cysts 2", "equivalent_identifiers": ["MONDO:0015026", "OMIM:617341", "UMLS:C4479220", "medgen:1390862"], "information_content": 100.0}
{"id": "MONDO:0014759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 51", "equivalent_identifiers": ["MONDO:0014759", "DOID:0081214", "OMIM:616739", "UMLS:C4225220", "medgen:903243"], "information_content": 100.0}
{"id": "MONDO:0011877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant osteopetrosis 1", "equivalent_identifiers": ["MONDO:0011877", "DOID:0110937", "OMIM:607634", "orphanet:2783", "UMLS:C1843330", "MESH:C536056", "SNOMEDCT:1264041000", "medgen:335932"], "information_content": 100.0}
{"id": "MONDO:0009417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypergonadotropic hypogonadism-cataract syndrome", "equivalent_identifiers": ["MONDO:0009417", "OMIM:240950", "orphanet:2410", "UMLS:C1855859", "MESH:C543092", "SNOMEDCT:721233005", "medgen:344596"], "information_content": 100.0}
{"id": "MONDO:0013338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease recessive intermediate B", "equivalent_identifiers": ["MONDO:0013338", "DOID:0110204", "OMIM:613641", "orphanet:254334", "UMLS:C3150897", "medgen:462247"], "information_content": 100.0}
{"id": "MONDO:0009380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dubin-Johnson syndrome", "equivalent_identifiers": ["MONDO:0009380", "DOID:12308", "OMIM:237500", "orphanet:234", "UMLS:C0022350", "MESH:D007566", "MEDDRA:10013800", "NCIT:C34741", "SNOMEDCT:44553005", "medgen:7181", "icd11.foundation:1691610999", "ICD10:E80.6"], "information_content": 100.0}
{"id": "MONDO:0008386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axenfeld-Rieger syndrome type 1", "equivalent_identifiers": ["MONDO:0008386", "DOID:0110120", "OMIM:180500", "UMLS:C3714873", "NCIT:C75015", "medgen:811487"], "information_content": 92.8}
{"id": "HP:0011500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polycoria", "equivalent_identifiers": ["HP:0011500", "UMLS:C0344544", "SNOMEDCT:204159004"], "information_content": 100.0}
{"id": "MONDO:0014088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "advanced sleep phase syndrome 2", "equivalent_identifiers": ["MONDO:0014088", "DOID:0110012", "OMIM:615224", "UMLS:C3808874", "medgen:815204"], "information_content": 100.0}
{"id": "MONDO:0004927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dacryocystocele", "equivalent_identifiers": ["MONDO:0004927", "DOID:9939", "UMLS:C0155241", "MEDDRA:10023634", "MEDDRA:10060869", "MEDDRA:10082947", "MEDDRA:10083192", "NCIT:C98968", "SNOMEDCT:42758002", "medgen:472901", "ICD9:375.43", "HP:0030752"], "information_content": 100.0}
{"id": "MONDO:0004926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dacryocystitis", "equivalent_identifiers": ["MONDO:0004926", "DOID:9938", "UMLS:C0010930", "MESH:D003607", "MEDDRA:10011844", "MEDDRA:10011845", "MEDDRA:10011846", "NCIT:C34521", "SNOMEDCT:85777005", "medgen:3686", "icd11.foundation:1034960983", "ICD10:H04.30", "ICD9:375.30", "HP:0000620"], "information_content": 89.4}
{"id": "MONDO:0044314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 78", "equivalent_identifiers": ["MONDO:0044314", "DOID:0061113", "OMIM:617433", "UMLS:C4479481", "medgen:1378790"], "information_content": 100.0}
{"id": "HP:0030786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Photopsia", "equivalent_identifiers": ["HP:0030786", "UMLS:C0085635", "MEDDRA:10016757", "MEDDRA:10034962", "MEDDRA:10047569", "SNOMEDCT:56170001", "MESH:C000726607"], "information_content": 100.0}
{"id": "MONDO:0024506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome 1", "equivalent_identifiers": ["MONDO:0024506", "OMIM:100300", "UMLS:C1970140", "UMLS:C4551482", "MESH:C566997", "medgen:1635567"], "information_content": 100.0}
{"id": "MONDO:0009375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hymen, imperforate", "equivalent_identifiers": ["MONDO:0009375", "OMIM:237100", "UMLS:C0152436", "MESH:C562397", "MEDDRA:10021529", "SNOMEDCT:65937002", "medgen:57775", "HP:0030011"], "information_content": 100.0}
{"id": "HP:6000946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transverse terminal lower limb defect", "equivalent_identifiers": ["HP:6000946", "UMLS:C5970293"], "information_content": 90.9}
{"id": "HP:0007590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia cutis congenita over posterior parietal area", "equivalent_identifiers": ["HP:0007590", "UMLS:C1863495"], "information_content": 100.0}
{"id": "MONDO:0011593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures, benign familial infantile, 2", "equivalent_identifiers": ["MONDO:0011593", "DOID:0081115", "OMIM:605751", "UMLS:C1853995", "MESH:C565296", "medgen:381313"], "information_content": 100.0}
{"id": "MONDO:0009748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy with spastic paraplegia", "equivalent_identifiers": ["MONDO:0009748", "OMIM:256840", "orphanet:139578", "UMLS:C1850395", "UMLS:C4303565", "MESH:C564948", "SNOMEDCT:717827000", "medgen:342492", "icd11.foundation:813709854"], "information_content": 100.0}
{"id": "HP:0006827", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy of the spinal cord", "equivalent_identifiers": ["HP:0006827", "UMLS:C1389102"], "information_content": 95.4}
{"id": "HP:0034075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating apolipoprotein B concentration", "equivalent_identifiers": ["HP:0034075", "UMLS:C5676671"], "information_content": 100.0}
{"id": "HP:0001886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot osteomyelitis", "equivalent_identifiers": ["HP:0001886", "UMLS:C4025737", "UMLS:C4049342", "MEDDRA:10076514", "SNOMEDCT:294981000119103"], "information_content": 100.0}
{"id": "MONDO:0014239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular anomalies with or without congenital heart disease", "equivalent_identifiers": ["MONDO:0014239", "OMIM:615542", "UMLS:C3809858", "medgen:816188"], "information_content": 100.0}
{"id": "HP:0002926", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of thyroid physiology", "equivalent_identifiers": ["HP:0002926", "UMLS:C0857576", "MEDDRA:10043726"], "information_content": 73.4}
{"id": "HP:4000094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corpus cavernosum hypoplasia", "equivalent_identifiers": ["HP:4000094", "UMLS:C3809860"], "information_content": 100.0}
{"id": "MONDO:0010339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, X-linked 1, with variable learning disabilities and behavior disorders", "equivalent_identifiers": ["MONDO:0010339", "DOID:0112122", "OMIM:300491", "orphanet:85294", "UMLS:C1845343", "UMLS:C5774177", "MESH:C564505", "medgen:1823951"], "information_content": 100.0}
{"id": "MONDO:0060486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 1, neurogenic, with myelin defect", "equivalent_identifiers": ["MONDO:0060486", "DOID:0080978", "OMIM:617468", "UMLS:C4479539", "medgen:1373185"], "information_content": 100.0}
{"id": "HP:0006659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Internally rotated shoulders", "equivalent_identifiers": ["HP:0006659", "UMLS:C1862491"], "information_content": 100.0}
{"id": "MONDO:0030335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea 12, with microvillus atrophy", "equivalent_identifiers": ["MONDO:0030335", "OMIM:619445", "UMLS:C5561942", "medgen:1794152"], "information_content": 100.0}
{"id": "HP:0033996", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microvillar PAS-positive secretory granules", "equivalent_identifiers": ["HP:0033996", "UMLS:C5558372"], "information_content": 100.0}
{"id": "HP:0033995", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microvillus inclusions", "equivalent_identifiers": ["HP:0033995", "UMLS:C5558371"], "information_content": 100.0}
{"id": "MONDO:0013819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 14", "equivalent_identifiers": ["MONDO:0013819", "DOID:0070044", "OMIM:614607", "UMLS:C3553247", "UMLS:C4749148", "medgen:766161"], "information_content": 100.0}
{"id": "HP:0200104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent fifth fingernail", "equivalent_identifiers": ["HP:0200104", "UMLS:C4020917"], "information_content": 100.0}
{"id": "MONDO:0859148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures and gingival overgrowth", "equivalent_identifiers": ["MONDO:0859148", "OMIM:619323", "UMLS:C5543395", "medgen:1784299"], "information_content": 100.0}
{"id": "HP:0033720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with occipital epileptiform discharges", "equivalent_identifiers": ["HP:0033720", "UMLS:C5539779"], "information_content": 89.4}
{"id": "MONDO:0011650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrioventricular septal defect, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0011650", "OMIM:606217", "UMLS:C1853508", "UMLS:C1853509", "MESH:C565249", "medgen:381193"], "information_content": 100.0}
{"id": "MONDO:0012505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigmented nodular adrenocortical disease, primary, 2", "equivalent_identifiers": ["MONDO:0012505", "DOID:0070547", "OMIM:610475", "UMLS:C1864851", "MESH:C566472", "medgen:355843"], "information_content": 100.0}
{"id": "HP:0003466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paradoxical increased cortisol secretion on dexamethasone suppression test", "equivalent_identifiers": ["HP:0003466", "UMLS:C1968855"], "information_content": 100.0}
{"id": "HP:0001580", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigmented micronodular adrenocortical disease", "equivalent_identifiers": ["HP:0001580", "UMLS:C1968851"], "information_content": 100.0}
{"id": "HP:0001579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primary hypercortisolism", "equivalent_identifiers": ["HP:0001579", "UMLS:C1968852", "UMLS:C4025760"], "information_content": 100.0}
{"id": "MONDO:0010916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 3 with or without polycystic liver disease", "equivalent_identifiers": ["MONDO:0010916", "DOID:0110860", "OMIM:600666", "UMLS:C3887964", "medgen:854672"], "information_content": 100.0}
{"id": "MONDO:0013822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrodysostosis 2 with or without hormone resistance", "equivalent_identifiers": ["MONDO:0013822", "OMIM:614613", "UMLS:C3553250", "medgen:766164"], "information_content": 100.0}
{"id": "HP:0002297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Red hair", "equivalent_identifiers": ["HP:0002297", "UMLS:C0239803", "SNOMEDCT:297997007"], "information_content": 100.0}
{"id": "MONDO:0011459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 5", "equivalent_identifiers": ["MONDO:0011459", "DOID:0110074", "OMIM:604400", "UMLS:C1858379", "MESH:C565776", "NCIT:C173470", "medgen:346805"], "information_content": 100.0}
{"id": "MONDO:0007393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioacrofacial syndrome", "equivalent_identifiers": ["MONDO:0007393", "OMIM:122850", "UMLS:C1852512", "MESH:C565147", "medgen:338947"], "information_content": 100.0}
{"id": "HP:0005922", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hand morphology", "equivalent_identifiers": ["HP:0005922", "UMLS:C4025109"], "information_content": 53.1}
{"id": "MONDO:0007476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial Dupuytren contracture", "equivalent_identifiers": ["MONDO:0007476", "OMIM:126900", "EFO:0004229", "UMLS:C0013312", "UMLS:C0410062", "UMLS:C1851997", "UMLS:C1851998", "MESH:C565083", "MESH:C565084", "MEDDRA:10010829", "MEDDRA:10013872", "MEDDRA:10049457", "SNOMEDCT:203047009", "SNOMEDCT:274142002", "SNOMEDCT:410812005", "SNOMEDCT:410813000", "medgen:41672", "HP:0005679"], "information_content": 100.0}
{"id": "MONDO:0011180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "broad terminal phalanges, familial", "equivalent_identifiers": ["MONDO:0011180", "OMIM:602071", "UMLS:C1865923", "MESH:C566588", "medgen:400879"], "information_content": 100.0}
{"id": "MONDO:0013609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 10", "equivalent_identifiers": ["MONDO:0013609", "OMIM:614175", "UMLS:C3280036", "medgen:481666"], "information_content": 100.0}
{"id": "MONDO:0012467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cold-induced sweating syndrome 2", "equivalent_identifiers": ["MONDO:0012467", "DOID:0080330", "OMIM:610313", "UMLS:C1853198", "MESH:C564791", "NCIT:C173148", "medgen:342816"], "information_content": 100.0}
{"id": "HP:0025278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cold-induced sweating", "equivalent_identifiers": ["HP:0025278", "UMLS:C4476686"], "information_content": 89.4}
{"id": "MONDO:0100082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LEOPARD syndrome 1", "equivalent_identifiers": ["MONDO:0100082", "DOID:0080548", "OMIM:151100", "UMLS:C4551484", "medgen:1631694"], "information_content": 100.0}
{"id": "MONDO:0007240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial heart block, type 1A", "equivalent_identifiers": ["MONDO:0007240", "DOID:0111074", "OMIM:113900", "EFO:0004138", "UMLS:C0006384", "UMLS:C0015643", "UMLS:C1861983", "UMLS:C1861984", "UMLS:C1879286", "MESH:C566185", "MESH:C566186", "MESH:C566873", "MESH:D002037", "MEDDRA:10005268", "MEDDRA:10006578", "MEDDRA:10006581", "MEDDRA:10006583", "MEDDRA:10006584", "MEDDRA:10019261", "MEDDRA:10086740", "NCIT:C126651", "NCIT:C84603", "SNOMEDCT:283645003", "SNOMEDCT:6374002", "medgen:406301", "ICD10:I44", "HP:0011710"], "information_content": 87.2}
{"id": "HP:0001003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Solar Lentigo", "equivalent_identifiers": ["HP:0001003", "NCIT:C26881", "UMLS:C0036651", "UMLS:C0391924", "UMLS:C1328931", "MEDDRA:10000615", "MEDDRA:10039981", "MEDDRA:10064127", "MEDDRA:10064129", "MEDDRA:10084018", "MEDDRA:10087527", "SNOMEDCT:1295259008", "SNOMEDCT:72100002"], "information_content": 100.0}
{"id": "MONDO:0030337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa, autosomal recessive, type 2E", "equivalent_identifiers": ["MONDO:0030337", "OMIM:619451", "UMLS:C5561944", "medgen:1794154"], "information_content": 100.0}
{"id": "HP:0034271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Copper beaten skull", "equivalent_identifiers": ["HP:0034271", "UMLS:C1969406"], "information_content": 100.0}
{"id": "MONDO:0032904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, Meesmann, 2", "equivalent_identifiers": ["MONDO:0032904", "DOID:0080671", "OMIM:618767", "UMLS:C5231495", "medgen:1684798"], "information_content": 100.0}
{"id": "MONDO:0007116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary neurocutaneous angioma", "equivalent_identifiers": ["MONDO:0007116", "OMIM:106070", "orphanet:1062", "UMLS:C1275084", "UMLS:C1862897", "UMLS:C1862898", "MESH:C536364", "MESH:C566282", "MESH:C566283", "SNOMEDCT:403775003", "medgen:226898", "icd11.foundation:182579434"], "information_content": 100.0}
{"id": "MONDO:0030356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 21 without polydactyly", "equivalent_identifiers": ["MONDO:0030356", "OMIM:619479", "UMLS:C5561961", "medgen:1794171"], "information_content": 100.0}
{"id": "HP:0034044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trident pelvis", "equivalent_identifiers": ["HP:0034044", "UMLS:C5563366"], "information_content": 100.0}
{"id": "MONDO:0008648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular tachycardia, familial", "equivalent_identifiers": ["MONDO:0008648", "OMIM:192605", "UMLS:C0340485", "SNOMEDCT:233906007", "medgen:83309"], "information_content": 85.5}
{"id": "HP:0004751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal ventricular tachycardia", "equivalent_identifiers": ["HP:0004751", "NCIT:C34902", "UMLS:C0030591", "MEDDRA:10034049", "MEDDRA:10034050", "MEDDRA:10043082", "SNOMEDCT:66657009"], "information_content": 100.0}
{"id": "MONDO:0007883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodic fever, immunodeficiency, and thrombocytopenia syndrome", "equivalent_identifiers": ["MONDO:0007883", "OMIM:150550", "orphanet:652522", "UMLS:C0272174", "MESH:C562721", "SNOMEDCT:71436005", "medgen:78795"], "information_content": 100.0}
{"id": "MONDO:0018824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyoderma gangrenosum", "equivalent_identifiers": ["MONDO:0018824", "DOID:8553", "orphanet:48104", "EFO:0006835", "UMLS:C0085652", "MESH:D017511", "MEDDRA:10037634", "MEDDRA:10037635", "MEDDRA:10037636", "SNOMEDCT:74578003", "medgen:43224", "icd11.foundation:2120746218", "ICD10:L88", "ICD9:686.01", "HP:0025452"], "information_content": 89.4}
{"id": "HP:0031394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal CD4:CD8 ratio", "equivalent_identifiers": ["HP:0031394", "UMLS:C4531154"], "information_content": 92.8}
{"id": "MONDO:0013158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6", "equivalent_identifiers": ["MONDO:0013158", "DOID:0111242", "OMIM:613154", "UMLS:C3150414", "NCIT:C126743", "medgen:461764"], "information_content": 100.0}
{"id": "HP:0007063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the inferior half of the cerebellar vermis", "equivalent_identifiers": ["HP:0007063", "UMLS:C1857787"], "information_content": 100.0}
{"id": "HP:0011484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior synechiae of the anterior chamber", "equivalent_identifiers": ["HP:0011484", "UMLS:C0152253", "MEDDRA:10036367", "MEDDRA:10062785", "SNOMEDCT:111512005"], "information_content": 100.0}
{"id": "MONDO:0009281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutaryl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0009281", "DOID:0111254", "OMIM:231670", "orphanet:25", "UMLS:C0268595", "MESH:C536833", "MEDDRA:10088192", "MEDDRA:10088195", "NCIT:C99101", "SNOMEDCT:360416003", "SNOMEDCT:76175005", "medgen:124337"], "information_content": 100.0}
{"id": "HP:0003530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating glutaric acid concentration", "equivalent_identifiers": ["HP:0003530", "UMLS:C4025603"], "information_content": 100.0}
{"id": "MONDO:0000129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutaric aciduria", "equivalent_identifiers": ["MONDO:0000129", "UMLS:C0268594", "SNOMEDCT:28987007", "medgen:75695", "HP:0003150"], "information_content": 85.5}
{"id": "HP:0034656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine 3-hydroxyglutaric level", "equivalent_identifiers": ["HP:0034656", "UMLS:C5826565"], "information_content": 100.0}
{"id": "HP:0006873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symmetrical progressive peripheral demyelination", "equivalent_identifiers": ["HP:0006873", "UMLS:C4024972"], "information_content": 100.0}
{"id": "HP:0034688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced peroxisomal glutaryl-CoA oxidase activity", "equivalent_identifiers": ["HP:0034688", "UMLS:C5826590"], "information_content": 100.0}
{"id": "HP:0033442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating glutarylcarnitine concentration", "equivalent_identifiers": ["HP:0033442", "UMLS:C5539595"], "information_content": 100.0}
{"id": "MONDO:0011103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 3A", "equivalent_identifiers": ["MONDO:0011103", "DOID:0110564", "OMIM:601544", "UMLS:C2675750", "MESH:C567277", "medgen:436512"], "information_content": 100.0}
{"id": "MONDO:0009901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartsocas-Papas syndrome 1", "equivalent_identifiers": ["MONDO:0009901", "OMIM:263650", "orphanet:1234", "UMLS:C1849718", "MESH:C564874", "NCIT:C168990", "SNOMEDCT:722376008", "medgen:337894"], "information_content": 100.0}
{"id": "HP:0010489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent palmar crease", "equivalent_identifiers": ["HP:0010489", "UMLS:C4021262", "SNOMEDCT:1144444005"], "information_content": 100.0}
{"id": "HP:0032527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inferiorly positioned umbilicus", "equivalent_identifiers": ["HP:0032527", "UMLS:C5139402"], "information_content": 100.0}
{"id": "HP:0010285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral synechia", "equivalent_identifiers": ["HP:0010285", "UMLS:C4023921"], "information_content": 100.0}
{"id": "MONDO:0001623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cicatricial lagophthalmos", "equivalent_identifiers": ["MONDO:0001623", "DOID:13038", "UMLS:C0155199", "MEDDRA:10009175", "SNOMEDCT:9042000", "medgen:509846", "icd11.foundation:1868697470", "ICD10:H02.21", "ICD9:374.23", "HP:0030004"], "information_content": 100.0}
{"id": "MONDO:0007123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankyloblepharon", "equivalent_identifiers": ["MONDO:0007123", "OMIM:106250", "orphanet:1072", "UMLS:C0339182", "UMLS:C1302999", "UMLS:C1862866", "MESH:C536373", "SNOMEDCT:193953008", "SNOMEDCT:400952003", "SNOMEDCT:783204009", "medgen:400148", "HP:0009755"], "information_content": 100.0}
{"id": "MONDO:0014466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neu-Laxova syndrome 2", "equivalent_identifiers": ["MONDO:0014466", "DOID:0080075", "OMIM:616038", "orphanet:583602", "UMLS:C4015019", "medgen:863456"], "information_content": 100.0}
{"id": "MONDO:0010949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2B", "equivalent_identifiers": ["MONDO:0010949", "DOID:0110159", "OMIM:600882", "orphanet:99936", "UMLS:C1833219", "MESH:C537989", "SNOMEDCT:717008005", "medgen:371512", "icd11.foundation:1425224652"], "information_content": 100.0}
{"id": "HP:0001868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autoamputation of foot", "equivalent_identifiers": ["HP:0001868", "UMLS:C4025740"], "information_content": 100.0}
{"id": "HP:0001218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autoamputation", "equivalent_identifiers": ["HP:0001218", "UMLS:C1833222"], "information_content": 92.8}
{"id": "MONDO:0060729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "protoporphyria, erythropoietic, 2", "equivalent_identifiers": ["MONDO:0060729", "OMIM:618015", "UMLS:C4693947", "medgen:1645733"], "information_content": 100.0}
{"id": "MONDO:0032907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 8", "equivalent_identifiers": ["MONDO:0032907", "OMIM:618773", "UMLS:C5231496", "medgen:1684767"], "information_content": 100.0}
{"id": "MONDO:0012603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic kinesigenic dyskinesia 2", "equivalent_identifiers": ["MONDO:0012603", "DOID:0090054", "OMIM:611031", "UMLS:C1970238", "MESH:C567026", "medgen:410022"], "information_content": 100.0}
{"id": "MONDO:0009334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia with thermal sensitivity of red cells", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009334", "OMIM:235370", "UMLS:C1856158", "MESH:C565522", "medgen:343488"], "information_content": 100.0}
{"id": "MONDO:0003689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemolytic anemia", "equivalent_identifiers": ["MONDO:0003689", "DOID:589", "UMLS:C0002881", "UMLS:C4020827", "MESH:D000745", "MEDDRA:10010489", "MEDDRA:10019880", "MEDDRA:10019881", "MEDDRA:10019882", "MEDDRA:10019885", "MEDDRA:10019886", "MEDDRA:10054399", "MEDDRA:10055202", "MEDDRA:10060893", "MEDDRA:10073793", "NCIT:C34379", "SNOMEDCT:38911009", "SNOMEDCT:42601008", "medgen:1919", "ICD10:D58.9", "ICD9:282", "HP:0004804"], "information_content": 73.8}
{"id": "MONDO:0030134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngodistal myopathy 2", "equivalent_identifiers": ["MONDO:0030134", "DOID:0081298", "OMIM:618940", "UMLS:C5394548", "NCIT:C190873", "medgen:1718769"], "information_content": 100.0}
{"id": "MONDO:0030361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 8", "equivalent_identifiers": ["MONDO:0030361", "OMIM:619486", "UMLS:C5551352", "medgen:1790409"], "information_content": 100.0}
{"id": "MONDO:0032922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beck-Fahrner syndrome", "equivalent_identifiers": ["MONDO:0032922", "OMIM:618798", "orphanet:684216", "UMLS:C5394097", "medgen:1711894"], "information_content": 100.0}
{"id": "MONDO:0009647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Morquio syndrome C", "equivalent_identifiers": ["MONDO:0009647", "OMIM:252300", "UMLS:C2931140", "MESH:C536247", "medgen:443986"], "information_content": 100.0}
{"id": "MONDO:0007980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachromasia of fibroblasts", "equivalent_identifiers": ["MONDO:0007980", "OMIM:156300", "UMLS:C1835008", "medgen:322549", "HP:0003610"], "information_content": 100.0}
{"id": "HP:0005723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoe-shaped sella turcica", "equivalent_identifiers": ["HP:0005723", "UMLS:C4025147"], "information_content": 100.0}
{"id": "MONDO:0024457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 2A", "equivalent_identifiers": ["MONDO:0024457", "DOID:0110735", "OMIM:256600", "orphanet:35069", "UMLS:C0270724", "UMLS:C2931102", "MESH:C536071", "MEDDRA:10088200", "NCIT:C202073", "NCIT:C84927", "SNOMEDCT:52713000", "medgen:82852", "ICD10:G23.0"], "information_content": 100.0}
{"id": "HP:0012675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iron accumulation in brain", "equivalent_identifiers": ["HP:0012675", "UMLS:C4021076"], "information_content": 90.9}
{"id": "MONDO:0011614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "equivalent_identifiers": ["MONDO:0011614", "DOID:0081168", "OMIM:605911", "orphanet:35701", "UMLS:C2751532", "UMLS:C4510940", "MESH:C567784", "SNOMEDCT:725286002", "medgen:414399"], "information_content": 100.0}
{"id": "HP:0030781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating free fatty acid level", "equivalent_identifiers": ["HP:0030781", "UMLS:C4280773"], "information_content": 100.0}
{"id": "MONDO:0013891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 18", "equivalent_identifiers": ["MONDO:0013891", "DOID:0060209", "OMIM:614808", "UMLS:C3553719", "medgen:766633"], "information_content": 100.0}
{"id": "MONDO:0008134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 1", "equivalent_identifiers": ["MONDO:0008134", "DOID:0111441", "OMIM:165500", "orphanet:98673", "UMLS:C0338508", "NCIT:C169000", "SNOMEDCT:717336005", "medgen:137902"], "information_content": 100.0}
{"id": "HP:0000650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal amplitude of pattern reversal visual evoked potentials", "equivalent_identifiers": ["HP:0000650", "UMLS:C4025834"], "information_content": 100.0}
{"id": "MONDO:0008059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Naegeli-Franceschetti-Jadassohn syndrome", "equivalent_identifiers": ["MONDO:0008059", "DOID:0111528", "OMIM:161000", "orphanet:69087", "UMLS:C0343111", "MESH:C538331", "SNOMEDCT:239084001", "medgen:91010", "icd11.foundation:352035640"], "information_content": 100.0}
{"id": "MONDO:0030366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2E", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0030366", "DOID:0081161", "OMIM:619492", "UMLS:C5561970", "medgen:1794180"], "information_content": 100.0}
{"id": "HP:0006673", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced systolic function", "equivalent_identifiers": ["HP:0006673", "UMLS:C4025008"], "information_content": 92.8}
{"id": "MONDO:0009144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ebstein anomaly", "equivalent_identifiers": ["MONDO:0009144", "DOID:14289", "OMIM:224700", "orphanet:1880", "EFO:0007244", "UMLS:C0013481", "MESH:D004437", "MEDDRA:10014075", "NCIT:C84681", "SNOMEDCT:204357006", "medgen:4435", "icd11.foundation:307157712", "ICD10:Q22.5", "ICD9:746.2", "HP:0010316"], "information_content": 95.4}
{"id": "MONDO:0013429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 40", "equivalent_identifiers": ["MONDO:0013429", "DOID:0110375", "OMIM:613801", "UMLS:C3151107", "medgen:462457"], "information_content": 100.0}
{"id": "MONDO:0007571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary erythermalgia", "equivalent_identifiers": ["MONDO:0007571", "OMIM:133020", "orphanet:90026", "UMLS:C0014805", "NCIT:C125383", "SNOMEDCT:403390002", "SNOMEDCT:709489006", "medgen:8688"], "information_content": 100.0}
{"id": "MONDO:0016028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythromelalgia", "equivalent_identifiers": ["MONDO:0016028", "DOID:9240", "UMLS:C0014804", "MESH:D004916", "MEDDRA:10015247", "MEDDRA:10015284", "MEDDRA:10077100", "NCIT:C34593", "SNOMEDCT:37151006", "medgen:8687", "icd11.foundation:838760425", "ICD10:I73.81", "ICD9:443.82", "HP:0032147"], "information_content": 92.8}
{"id": "HP:0040264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jaw pain", "equivalent_identifiers": ["HP:0040264", "UMLS:C0236000", "MEDDRA:10023143", "MEDDRA:10023157", "MEDDRA:10033433", "MEDDRA:10033455", "MEDDRA:10072238", "SNOMEDCT:274667000"], "information_content": 100.0}
{"id": "MONDO:0014773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014773", "OMIM:616789", "orphanet:369891", "UMLS:C4225208", "medgen:900924"], "information_content": 100.0}
{"id": "MONDO:0100607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 54", "equivalent_identifiers": ["MONDO:0100607", "OMIM:621125"], "information_content": 100.0}
{"id": "MONDO:0011894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2E", "equivalent_identifiers": ["MONDO:0011894", "DOID:0110165", "OMIM:607684", "orphanet:99939", "UMLS:C1843225", "MESH:C537994", "NCIT:C134953", "SNOMEDCT:717012004", "medgen:375127", "icd11.foundation:1476045360"], "information_content": 100.0}
{"id": "MONDO:0008107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus, hereditary vertical", "equivalent_identifiers": ["MONDO:0008107", "OMIM:164150", "UMLS:C1834078", "MESH:C537857", "medgen:322336"], "information_content": 100.0}
{"id": "HP:0007670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vestibulo-ocular reflex", "equivalent_identifiers": ["HP:0007670", "UMLS:C4021571"], "information_content": 78.5}
{"id": "MONDO:0014114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome 4", "equivalent_identifiers": ["MONDO:0014114", "DOID:0111463", "OMIM:615280", "UMLS:C3809007", "medgen:815337"], "information_content": 100.0}
{"id": "HP:0001646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal aortic valve morphology", "equivalent_identifiers": ["HP:0001646", "UMLS:C3164445", "SNOMEDCT:448743001"], "information_content": 74.1}
{"id": "MONDO:0013449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 7", "equivalent_identifiers": ["MONDO:0013449", "DOID:0110333", "OMIM:613829", "UMLS:C3151192", "medgen:462542"], "information_content": 100.0}
{"id": "MONDO:0013900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating hemiplegia of childhood 2", "equivalent_identifiers": ["MONDO:0013900", "OMIM:614820", "UMLS:C3553788", "medgen:766702"], "information_content": 100.0}
{"id": "HP:0200072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic quadriplegia", "equivalent_identifiers": ["HP:0200072", "UMLS:C1863062"], "information_content": 100.0}
{"id": "MONDO:0012853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fontaine progeroid syndrome", "equivalent_identifiers": ["MONDO:0012853", "OMIM:612289", "orphanet:2095", "orphanet:2963", "UMLS:C2676780", "UMLS:C5848089", "MESH:C537290", "MESH:C567360", "SNOMEDCT:205800003", "SNOMEDCT:770567006", "medgen:394125"], "information_content": 100.0}
{"id": "HP:0008038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplastic/hypoplastic lacrimal glands", "equivalent_identifiers": ["HP:0008038", "UMLS:C1835602"], "information_content": 90.9}
{"id": "HP:0005247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the abdominal wall musculature", "equivalent_identifiers": ["HP:0005247", "UMLS:C3279407"], "information_content": 100.0}
{"id": "HP:0100678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin Wrinkling", "equivalent_identifiers": ["HP:0100678", "NCIT:C50435", "UMLS:C0037301", "MEDDRA:10040954", "MEDDRA:10048042", "MEDDRA:10048043", "MEDDRA:10085737", "SNOMEDCT:247434009"], "information_content": 85.5}
{"id": "HP:0007495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prematurely aged appearance", "equivalent_identifiers": ["HP:0007495", "UMLS:C1857656"], "information_content": 82.6}
{"id": "MONDO:0014123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 21", "equivalent_identifiers": ["MONDO:0014123", "DOID:0110596", "OMIM:615294", "UMLS:C3809087", "medgen:815417"], "information_content": 100.0}
{"id": "MONDO:0010178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bilateral aplasia of vas deferens from CFTR mutation", "equivalent_identifiers": ["MONDO:0010178", "DOID:0111864", "OMIM:277180", "UMLS:C0403814", "MESH:C535984", "NCIT:C129303", "medgen:98021"], "information_content": 100.0}
{"id": "HP:0012873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent vas deferens", "equivalent_identifiers": ["HP:0012873", "UMLS:C0266444", "MEDDRA:10010670", "SNOMEDCT:300506000", "SNOMEDCT:5286009", "SNOMEDCT:702610009"], "information_content": 100.0}
{"id": "MONDO:0009557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibuloacral dysplasia with type A lipodystrophy", "equivalent_identifiers": ["MONDO:0009557", "DOID:0081128", "OMIM:248370", "orphanet:90153", "UMLS:C5399785", "MESH:C535705", "NCIT:C123417", "SNOMEDCT:1003431005", "SNOMEDCT:109419009", "medgen:1757618", "icd11.foundation:1756335062"], "information_content": 100.0}
{"id": "HP:0000287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased facial adipose tissue", "equivalent_identifiers": ["HP:0000287", "UMLS:C4025868", "UMLS:C4280649", "UMLS:C4280650"], "information_content": 100.0}
{"id": "HP:0001870", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acroosteolysis of distal phalanges (feet)", "equivalent_identifiers": ["HP:0001870", "UMLS:C4025739"], "information_content": 100.0}
{"id": "HP:0009839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolytic defects of the distal phalanges of the hand", "equivalent_identifiers": ["HP:0009839", "UMLS:C1849547"], "information_content": 88.2}
{"id": "HP:0001070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mottled pigmentation", "equivalent_identifiers": ["HP:0001070", "UMLS:C0860439", "UMLS:C4020879", "MEDDRA:10028009"], "information_content": 92.8}
{"id": "HP:0000905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive clavicular acroosteolysis", "equivalent_identifiers": ["HP:0000905", "UMLS:C1837757"], "information_content": 100.0}
{"id": "HP:0000468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased adipose tissue around the neck", "equivalent_identifiers": ["HP:0000468", "UMLS:C4025850"], "information_content": 100.0}
{"id": "MONDO:0030866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities", "equivalent_identifiers": ["MONDO:0030866", "DOID:0070543", "OMIM:619121", "UMLS:C5436848", "medgen:1750805"], "information_content": 100.0}
{"id": "MONDO:0014534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 6", "equivalent_identifiers": ["MONDO:0014534", "DOID:0112236", "OMIM:616212", "UMLS:C4015525", "medgen:863962"], "information_content": 100.0}
{"id": "MONDO:0015204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microlissencephaly", "equivalent_identifiers": ["MONDO:0015204", "DOID:0112234", "orphanet:1083", "UMLS:C1956147", "UMLS:C4021030", "SNOMEDCT:1003374009", "medgen:365439", "icd11.foundation:169315445", "HP:0045028"], "information_content": 90.9}
{"id": "MONDO:0018919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "McCune-Albright syndrome", "equivalent_identifiers": ["MONDO:0018919", "DOID:1858", "OMIM:174800", "orphanet:562", "UMLS:C0242292", "MEDDRA:10051698", "MEDDRA:10052032", "NCIT:C48627", "SNOMEDCT:726029005", "medgen:69164", "icd11.foundation:132749439", "ICD10:Q78.1", "ICD9:756.54"], "information_content": 92.8}
{"id": "MONDO:0024292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastrointestinal polyp", "equivalent_identifiers": ["MONDO:0024292", "UMLS:C0744333", "UMLS:C1257915", "UMLS:C5139418", "MESH:D044483", "MEDDRA:10057018", "MEDDRA:10079055", "NCIT:C35516", "medgen:219797", "HP:0200008"], "information_content": 71.0}
{"id": "HP:0004493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Craniofacial hyperostosis", "equivalent_identifiers": ["HP:0004493", "UMLS:C1868085", "UMLS:C4280516", "UMLS:C4280517", "UMLS:C4280518"], "information_content": 90.9}
{"id": "MONDO:0004286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic intraductal papillary-mucinous neoplasm", "equivalent_identifiers": ["MONDO:0004286", "DOID:7575", "UMLS:C1266071", "UMLS:C4511687", "MEDDRA:10090891", "NCIT:C38342", "SNOMEDCT:128689007", "SNOMEDCT:690771000119106", "medgen:1373306", "HP:6000657"], "information_content": 83.1}
{"id": "HP:0040085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating aldosterone concentration", "equivalent_identifiers": ["HP:0040085", "UMLS:C0857898", "MEDDRA:10035172"], "information_content": 81.7}
{"id": "MONDO:0008274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyostotic fibrous dysplasia", "equivalent_identifiers": ["MONDO:0008274", "orphanet:93276", "UMLS:C0016065", "MESH:D005359", "MEDDRA:10036120", "NCIT:C34610", "SNOMEDCT:36517007", "medgen:5180", "icd11.foundation:771587091", "HP:0010735"], "information_content": 100.0}
{"id": "HP:6000869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic ilium", "equivalent_identifiers": ["HP:6000869", "UMLS:C5937582"], "information_content": 100.0}
{"id": "MONDO:0019933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromegaly", "equivalent_identifiers": ["MONDO:0019933", "DOID:2449", "orphanet:963", "EFO:1001485", "UMLS:C0001206", "UMLS:C0235986", "MESH:C531600", "MESH:D000172", "MEDDRA:10000599", "MEDDRA:10018227", "MEDDRA:10018750", "MEDDRA:10018752", "MEDDRA:10041334", "MEDDRA:10041339", "MEDDRA:10041340", "NCIT:C112834", "NCIT:C84533", "SNOMEDCT:74107003", "medgen:1304", "HP:0000845"], "information_content": 95.4}
{"id": "HP:0005605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large cafe-au-lait macules with irregular margins", "equivalent_identifiers": ["HP:0005605", "UMLS:C4025174"], "information_content": 100.0}
{"id": "MONDO:0008549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracic dysostosis, isolated", "equivalent_identifiers": ["MONDO:0008549", "OMIM:187750", "UMLS:C1861204", "MESH:C566063", "medgen:396080"], "information_content": 100.0}
{"id": "MONDO:0012990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 13", "equivalent_identifiers": ["MONDO:0012990", "DOID:0110330", "OMIM:612712", "UMLS:C2675186", "MESH:C567197", "medgen:382544"], "information_content": 100.0}
{"id": "MONDO:0011240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly-capillary malformation-polymicrogyria syndrome", "equivalent_identifiers": ["MONDO:0011240", "OMIM:602501", "orphanet:60040", "UMLS:C1865285", "MESH:C536142", "MEDDRA:10085516", "SNOMEDCT:700063005", "SNOMEDCT:703370002", "medgen:355421"], "information_content": 100.0}
{"id": "MONDO:0030625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyskinesia with orofacial involvement, autosomal recessive", "equivalent_identifiers": ["MONDO:0030625", "OMIM:619647", "UMLS:C5562036", "medgen:1794246"], "information_content": 100.0}
{"id": "MONDO:0012278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supranuclear palsy, progressive, 2", "equivalent_identifiers": ["MONDO:0012278", "OMIM:609454", "UMLS:C1836148", "MESH:C563717", "medgen:324446"], "information_content": 100.0}
{"id": "HP:0002439", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontolimbic dementia", "equivalent_identifiers": ["HP:0002439", "UMLS:C1836151"], "information_content": 100.0}
{"id": "HP:0002528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Granulovacuolar degeneration", "equivalent_identifiers": ["HP:0002528", "UMLS:C0333454", "SNOMEDCT:90506004"], "information_content": 100.0}
{"id": "HP:0000743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal release signs", "equivalent_identifiers": ["HP:0000743", "UMLS:C1833297"], "information_content": 100.0}
{"id": "HP:0002544", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retrocollis", "equivalent_identifiers": ["HP:0002544", "UMLS:C3887667", "MEDDRA:10058980"], "information_content": 100.0}
{"id": "MONDO:0032813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 79", "equivalent_identifiers": ["MONDO:0032813", "DOID:0112215", "OMIM:618559", "UMLS:C5231410", "medgen:1684738"], "information_content": 100.0}
{"id": "HP:0032786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Migrating focal seizure", "equivalent_identifiers": ["HP:0032786", "UMLS:C4013260"], "information_content": 100.0}
{"id": "MONDO:0010860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 3", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0010860", "DOID:0110488", "OMIM:600316", "UMLS:C1838263", "MESH:C563961", "medgen:325373"], "information_content": 100.0}
{"id": "MONDO:0859212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus", "equivalent_identifiers": ["MONDO:0859212", "OMIM:619653", "UMLS:C5562040", "medgen:1794250"], "information_content": 100.0}
{"id": "MONDO:0011723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemifacial myohyperplasia", "equivalent_identifiers": ["MONDO:0011723", "OMIM:606773", "orphanet:141148", "UMLS:C1847521", "MESH:C535862", "SNOMEDCT:699420006", "medgen:339781", "icd11.foundation:1338941880"], "information_content": 100.0}
{"id": "MONDO:0009320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hall-Riggs syndrome", "equivalent_identifiers": ["MONDO:0009320", "OMIM:234250", "orphanet:2107", "UMLS:C1856198", "MESH:C535623", "SNOMEDCT:721008000", "medgen:341089"], "information_content": 100.0}
{"id": "HP:0006334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the primary teeth", "equivalent_identifiers": ["HP:0006334", "UMLS:C1855694"], "information_content": 100.0}
{"id": "HP:0006347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microdontia of primary teeth", "equivalent_identifiers": ["HP:0006347", "UMLS:C1856203"], "information_content": 100.0}
{"id": "MONDO:0013718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 13", "equivalent_identifiers": ["MONDO:0013718", "DOID:0111121", "OMIM:614377", "UMLS:C3280612", "medgen:482242"], "information_content": 100.0}
{"id": "HP:0032948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal interstitial fibrosis", "equivalent_identifiers": ["HP:0032948", "UMLS:C0235989", "MEDDRA:10038475", "SNOMEDCT:95577005"], "information_content": 100.0}
{"id": "HP:0033867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multilamellation of medullary peritubular capillary basement membranes", "equivalent_identifiers": ["HP:0033867", "UMLS:C5558257"], "information_content": 100.0}
{"id": "MONDO:0009954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ramon syndrome", "equivalent_identifiers": ["MONDO:0009954", "DOID:0070650", "OMIM:266270", "orphanet:3019", "UMLS:C0796133", "MESH:C535285", "medgen:208669", "icd11.foundation:122538435"], "information_content": 100.0}
{"id": "MONDO:0011429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile idiopathic arthritis", "equivalent_identifiers": ["MONDO:0011429", "DOID:676", "OMIM:604302", "orphanet:92", "EFO:0002609", "UMLS:C0157916", "UMLS:C0157917", "UMLS:C0157918", "UMLS:C3495559", "UMLS:C3714757", "MESH:D001171", "MEDDRA:10023266", "MEDDRA:10023267", "MEDDRA:10027842", "MEDDRA:10034164", "MEDDRA:10034165", "MEDDRA:10034166", "MEDDRA:10036038", "MEDDRA:10059176", "MEDDRA:10059177", "NCIT:C114357", "NCIT:C61279", "SNOMEDCT:16024431000119108", "SNOMEDCT:410502007", "SNOMEDCT:410795001", "medgen:760659", "icd11.foundation:1322678686", "ICD10:M08.4", "ICD9:714.3", "ICD9:714.31", "ICD9:714.32", "ICD9:714.33", "HP:0005681"], "information_content": 83.1}
{"id": "HP:0008683", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged labia minora", "equivalent_identifiers": ["HP:0008683", "UMLS:C1849358"], "information_content": 95.4}
{"id": "HP:0010866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal wall defect", "equivalent_identifiers": ["HP:0010866", "UMLS:C0238577"], "information_content": 78.5}
{"id": "MONDO:0014925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial focal, with variable foci 3", "equivalent_identifiers": ["MONDO:0014925", "DOID:0081423", "OMIM:617118", "UMLS:C4310708", "medgen:934675"], "information_content": 100.0}
{"id": "HP:0032052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal cortical dysplasia type IIa", "equivalent_identifiers": ["HP:0032052", "UMLS:C4478700", "SNOMEDCT:1003429001"], "information_content": 100.0}
{"id": "HP:0032046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal cortical dysplasia", "equivalent_identifiers": ["HP:0032046", "NCIT:C201592", "UMLS:C2938983", "MEDDRA:10070672", "MESH:D000092222"], "information_content": 83.1}
{"id": "MONDO:0030864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ritscher-Schinzel syndrome 3", "equivalent_identifiers": ["MONDO:0030864", "OMIM:619135", "UMLS:C5436883", "medgen:1744611"], "information_content": 100.0}
{"id": "HP:0100856", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poorly ossified vertebrae", "equivalent_identifiers": ["HP:0100856", "UMLS:C4021953"], "information_content": 95.4}
{"id": "MONDO:0010210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group A", "equivalent_identifiers": ["MONDO:0010210", "DOID:0110843", "OMIM:278700", "UMLS:C0268135", "NCIT:C3965", "SNOMEDCT:43477006", "medgen:82775"], "information_content": 89.4}
{"id": "MONDO:0005105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanoma", "equivalent_identifiers": ["MONDO:0005105", "DOID:1909", "EFO:0000756", "UMLS:C0025202", "UMLS:CN971653", "MESH:D008545", "MEDDRA:10025650", "MEDDRA:10027150", "MEDDRA:10053571", "NCIT:C3224", "SNOMEDCT:1162635006", "SNOMEDCT:372244006", "medgen:9944", "KEGG.DISEASE:05218", "HP:0002861"], "information_content": 61.5}
{"id": "MONDO:0019319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "verrucous nevus", "equivalent_identifiers": ["MONDO:0019319", "orphanet:79467", "UMLS:C0362030", "NCIT:C4674", "SNOMEDCT:398723007", "medgen:83927", "HP:0034275"], "information_content": 100.0}
{"id": "HP:0030350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Red-blue papule", "equivalent_identifiers": ["HP:0030350", "UMLS:C0747241", "UMLS:C4476842"], "information_content": 100.0}
{"id": "MONDO:0001519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "entropion", "equivalent_identifiers": ["MONDO:0001519", "DOID:12397", "UMLS:C0014390", "MESH:D004774", "MEDDRA:10014924", "MEDDRA:10014926", "MEDDRA:10061842", "SNOMEDCT:33168009", "medgen:41813", "ICD9:374.00", "HP:0000621"], "information_content": 85.5}
{"id": "MONDO:0011812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duane-radial ray syndrome", "equivalent_identifiers": ["MONDO:0011812", "DOID:0060747", "OMIM:607323", "orphanet:93293", "orphanet:959", "UMLS:C0751084", "UMLS:C1623209", "UMLS:C5848304", "SNOMEDCT:699867001", "SNOMEDCT:720415006", "medgen:301647"], "information_content": 92.8}
{"id": "HP:0010048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of metacarpal bones", "equivalent_identifiers": ["HP:0010048", "UMLS:C1846473", "SNOMEDCT:1145520001"], "information_content": 87.2}
{"id": "HP:0000634", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired ocular abduction", "equivalent_identifiers": ["HP:0000634", "UMLS:C1846462"], "information_content": 100.0}
{"id": "HP:0007766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic disc hypoplasia", "equivalent_identifiers": ["HP:0007766", "UMLS:C1298695", "SNOMEDCT:373650004"], "information_content": 100.0}
{"id": "HP:0001739", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasopharynx morphology", "equivalent_identifiers": ["HP:0001739", "UMLS:C4025750"], "information_content": 79.3}
{"id": "HP:0009016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb muscle hypoplasia", "equivalent_identifiers": ["HP:0009016", "UMLS:C1846478"], "information_content": 90.9}
{"id": "HP:0000661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palpebral fissure narrowing on adduction", "equivalent_identifiers": ["HP:0000661", "UMLS:C1846465"], "information_content": 100.0}
{"id": "HP:0000619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired convergence", "equivalent_identifiers": ["HP:0000619", "UMLS:C0271379", "MEDDRA:10048933", "SNOMEDCT:194131002"], "information_content": 100.0}
{"id": "HP:0008998", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pectoralis hypoplasia", "equivalent_identifiers": ["HP:0008998", "UMLS:C1846477"], "information_content": 95.4}
{"id": "HP:0008588", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slit-like opening of the exterior auditory meatus", "equivalent_identifiers": ["HP:0008588", "UMLS:C1846459"], "information_content": 100.0}
{"id": "HP:0000542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired ocular adduction", "equivalent_identifiers": ["HP:0000542", "UMLS:C1846463"], "information_content": 100.0}
{"id": "MONDO:0012117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG9-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012117", "DOID:0080564", "OMIM:608776", "orphanet:79328", "UMLS:C2931006", "MESH:C535750", "SNOMEDCT:720978005", "medgen:443955"], "information_content": 95.4}
{"id": "MONDO:0014022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10", "equivalent_identifiers": ["MONDO:0014022", "DOID:0111239", "OMIM:615041", "UMLS:C3554381", "medgen:767295"], "information_content": 100.0}
{"id": "HP:0008041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late onset congenital glaucoma", "equivalent_identifiers": ["HP:0008041", "UMLS:C1856441"], "information_content": 100.0}
{"id": "MONDO:0007049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acroleukopathy, symmetric", "equivalent_identifiers": ["MONDO:0007049", "OMIM:102000", "UMLS:C1863342", "MESH:C566322", "medgen:350143"], "information_content": 100.0}
{"id": "HP:0200015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symmetric great toe depigmentation", "equivalent_identifiers": ["HP:0200015", "UMLS:C4021900"], "information_content": 100.0}
{"id": "MONDO:0013261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1R", "equivalent_identifiers": ["MONDO:0013261", "DOID:0110456", "OMIM:613424", "UMLS:C3150681", "medgen:462031"], "information_content": 100.0}
{"id": "MONDO:0008516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly type 5", "equivalent_identifiers": ["MONDO:0008516", "DOID:0111819", "OMIM:186300", "orphanet:93406", "UMLS:C1861348", "MESH:C538155", "SNOMEDCT:719159004", "medgen:350010", "icd11.foundation:283224140"], "information_content": 100.0}
{"id": "HP:0006185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged proximal interphalangeal joints", "equivalent_identifiers": ["HP:0006185", "UMLS:C1861350"], "information_content": 100.0}
{"id": "HP:0005867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "4-5 metacarpal synostosis", "equivalent_identifiers": ["HP:0005867", "UMLS:C1859768"], "information_content": 100.0}
{"id": "MONDO:0010463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type", "equivalent_identifiers": ["MONDO:0010463", "DOID:0112106", "OMIM:300863", "orphanet:163966", "UMLS:C3275476", "UMLS:C4304401", "SNOMEDCT:719837003", "medgen:477107"], "information_content": 100.0}
{"id": "HP:0006208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal cupping of proximal phalanges", "equivalent_identifiers": ["HP:0006208", "UMLS:C1834980"], "information_content": 100.0}
{"id": "HP:0012789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the calcaneus", "equivalent_identifiers": ["HP:0012789", "UMLS:C3550873"], "information_content": 100.0}
{"id": "HP:0006402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal shortening of limbs", "equivalent_identifiers": ["HP:0006402", "UMLS:C1840307"], "information_content": 100.0}
{"id": "MONDO:0012113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0012113", "OMIM:608762", "UMLS:C1837468", "medgen:373335"], "information_content": 100.0}
{"id": "MONDO:0060550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type a7", "equivalent_identifiers": ["MONDO:0060550", "OMIM:617642", "UMLS:C4539976", "medgen:1627079"], "information_content": 100.0}
{"id": "MONDO:0032817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0032817", "DOID:0070346", "OMIM:618571", "EFO:0010561", "UMLS:C5231414", "medgen:1684661"], "information_content": 100.0}
{"id": "MONDO:0007128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "annular erythema", "equivalent_identifiers": ["MONDO:0007128", "OMIM:106500", "UMLS:C0234906", "MESH:C562461", "MEDDRA:10015153", "SNOMEDCT:200920000", "medgen:68608", "icd11.foundation:958930318"], "information_content": 100.0}
{"id": "MONDO:0012692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies", "equivalent_identifiers": ["MONDO:0012692", "OMIM:611555", "UMLS:C1969055", "MESH:C566918", "medgen:370587"], "information_content": 100.0}
{"id": "HP:0025466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beta 2-microglobulinuria", "equivalent_identifiers": ["HP:0025466", "UMLS:C4476798"], "information_content": 100.0}
{"id": "MONDO:0008437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 3A", "equivalent_identifiers": ["MONDO:0008437", "DOID:0110791", "OMIM:182600", "orphanet:100984", "UMLS:C2931355", "MESH:C536864", "MEDDRA:10052491", "NCIT:C142893", "SNOMEDCT:782670003", "medgen:419393"], "information_content": 100.0}
{"id": "MONDO:0013232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactylous dwarfism, Mseleni type", "equivalent_identifiers": ["MONDO:0013232", "OMIM:613342", "orphanet:2619", "UMLS:C2931420", "MESH:C537086", "SNOMEDCT:715470008", "medgen:419408", "icd11.foundation:419953164"], "information_content": 100.0}
{"id": "HP:0004295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal gastric mucosa morphology", "equivalent_identifiers": ["HP:0004295", "UMLS:C4025362"], "information_content": 77.1}
{"id": "MONDO:0007293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte adhesion deficiency 1", "equivalent_identifiers": ["MONDO:0007293", "DOID:0110910", "OMIM:116920", "orphanet:99842", "UMLS:C0398738", "MESH:C535887", "MEDDRA:10083936", "NCIT:C4689", "SNOMEDCT:234582006", "medgen:98310"], "information_content": 86.3}
{"id": "HP:0005420", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent gram-negative bacterial infections", "equivalent_identifiers": ["HP:0005420", "UMLS:C4025198"], "information_content": 86.3}
{"id": "HP:0011899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperfibrinogenemia", "equivalent_identifiers": ["HP:0011899", "NCIT:C113740", "UMLS:C0919890", "MEDDRA:10051124", "MEDDRA:10054407", "SNOMEDCT:439000005"], "information_content": 100.0}
{"id": "MONDO:0005076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodontitis", "equivalent_identifiers": ["MONDO:0005076", "DOID:824", "DOID:9893", "EFO:0000649", "UMLS:C0031099", "UMLS:C0600298", "MESH:D010518", "MEDDRA:10034539", "MEDDRA:10034540", "NCIT:C34918", "SNOMEDCT:41565005", "medgen:45815", "ICD10:K05.3", "ICD10:K05.4", "ICD9:523.5", "HP:0000704"], "information_content": 83.1}
{"id": "MONDO:0001187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary bladder cancer", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0001187", "DOID:11054", "OMIM:109800", "UMLS:C0005684", "MEDDRA:10005003", "MEDDRA:10005004", "MEDDRA:10005013", "MEDDRA:10025735", "MEDDRA:10025753", "NCIT:C9334", "SNOMEDCT:399326009", "medgen:14150", "ICD10:C67", "ICD9:188", "KEGG.DISEASE:05219"], "information_content": 65.4}
{"id": "MONDO:0004987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder tumor", "equivalent_identifiers": ["MONDO:0004987", "EFO:0000294", "UMLS:C0005695", "MESH:D001749", "MEDDRA:10005056", "MEDDRA:10005057", "MEDDRA:10005058", "MEDDRA:10028983", "MEDDRA:10029100", "NCIT:C2901", "SNOMEDCT:126885006", "medgen:594", "HP:0009725"], "information_content": 64.4}
{"id": "MONDO:0012573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesicoureteral reflux 2", "equivalent_identifiers": ["MONDO:0012573", "OMIM:610878", "UMLS:C1970483", "MESH:C567053", "medgen:370270"], "information_content": 100.0}
{"id": "MONDO:0010425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lisch epithelial corneal dystrophy", "equivalent_identifiers": ["MONDO:0010425", "DOID:0060450", "OMIM:620763", "orphanet:98955", "UMLS:C2749050", "MESH:C567588", "SNOMEDCT:724175002", "medgen:411737", "icd11.foundation:1571503165"], "information_content": 100.0}
{"id": "MONDO:0009016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "band keratopathy", "equivalent_identifiers": ["MONDO:0009016", "DOID:11164", "OMIM:217500", "UMLS:C0155120", "MESH:C562399", "MEDDRA:10004086", "MEDDRA:10004088", "MEDDRA:10023366", "NCIT:C118765", "SNOMEDCT:35055000", "medgen:56354", "icd11.foundation:184627034", "ICD10:H18.42", "ICD9:371.43", "HP:0007709"], "information_content": 100.0}
{"id": "MONDO:0010390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular albinism with late-onset sensorineural deafness", "equivalent_identifiers": ["MONDO:0010390", "OMIM:300650", "orphanet:1000", "UMLS:C1845069", "MESH:C537043", "SNOMEDCT:722054007", "medgen:337149"], "information_content": 100.0}
{"id": "HP:0007680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depigmented fundus", "equivalent_identifiers": ["HP:0007680", "UMLS:C4024816"], "information_content": 100.0}
{"id": "HP:0001361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nystagmus-induced head nodding", "equivalent_identifiers": ["HP:0001361", "UMLS:C4025788"], "information_content": 100.0}
{"id": "HP:0005592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giant melanosomes in melanocytes", "equivalent_identifiers": ["HP:0005592", "UMLS:C3806221"], "information_content": 100.0}
{"id": "HP:0008615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adult onset sensorineural hearing impairment", "equivalent_identifiers": ["HP:0008615", "UMLS:C4021534"], "information_content": 100.0}
{"id": "MONDO:0859276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primordial dwarfism-immunodeficiency-lipodystrophy syndrome", "equivalent_identifiers": ["MONDO:0859276", "OMIM:620005", "UMLS:C5774198", "medgen:1823971"], "information_content": 100.0}
{"id": "MONDO:0007643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gamma-A-globulin, defect in assembly of", "equivalent_identifiers": ["MONDO:0007643", "OMIM:137050", "UMLS:C1850934", "MESH:C564991", "medgen:342627"], "information_content": 100.0}
{"id": "MONDO:0036482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 81", "equivalent_identifiers": ["MONDO:0036482", "DOID:0080292", "OMIM:617871", "UMLS:C4693443", "medgen:1637738"], "information_content": 100.0}
{"id": "MONDO:0010475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "equivalent_identifiers": ["MONDO:0010475", "DOID:0111140", "OMIM:300888", "orphanet:329235", "UMLS:C3550963", "NCIT:C130989", "medgen:763877"], "information_content": 100.0}
{"id": "HP:0033075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inappropriately normal thyroid-stimulating hormone level", "equivalent_identifiers": ["HP:0033075", "UMLS:C5232538"], "information_content": 100.0}
{"id": "HP:0033082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced TSH response to thyrotrophin-releasing hormone stimulation test", "equivalent_identifiers": ["HP:0033082", "UMLS:C5421596"], "information_content": 100.0}
{"id": "MONDO:0007438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentin dysplasia-sclerotic bones syndrome", "equivalent_identifiers": ["MONDO:0007438", "OMIM:125440", "orphanet:99792", "UMLS:C1852201", "MESH:C538213", "medgen:377618"], "information_content": 100.0}
{"id": "HP:0005652", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical sclerosis", "equivalent_identifiers": ["HP:0005652", "UMLS:C4025164"], "information_content": 95.4}
{"id": "MONDO:0859279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, distal, autosomal recessive, 6", "equivalent_identifiers": ["MONDO:0859279", "DOID:0081425", "OMIM:620011", "UMLS:C5774201", "medgen:1823974"], "information_content": 100.0}
{"id": "HP:0008112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plantar flexion contracture", "equivalent_identifiers": ["HP:0008112", "UMLS:C1861239"], "information_content": 100.0}
{"id": "HP:0011948", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent acute respiratory tract infection", "equivalent_identifiers": ["HP:0011948", "UMLS:C1442786"], "information_content": 95.4}
{"id": "HP:0030207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flail Chest", "equivalent_identifiers": ["HP:0030207", "UMLS:C0016196", "UMLS:C0231852", "MEDDRA:10016747", "SNOMEDCT:12025005", "SNOMEDCT:78011002", "MESH:D005409"], "information_content": 100.0}
{"id": "MONDO:0859217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brunet-Wagner neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859217", "DOID:0061126", "OMIM:619690", "UMLS:C5562056", "medgen:1794266"], "information_content": 100.0}
{"id": "MONDO:0060642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features", "equivalent_identifiers": ["MONDO:0060642", "OMIM:617865", "UMLS:C4693405", "medgen:1647077"], "information_content": 100.0}
{"id": "HP:0006288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Advanced eruption of teeth", "equivalent_identifiers": ["HP:0006288", "UMLS:C0266054", "SNOMEDCT:16000003"], "information_content": 92.8}
{"id": "MONDO:0958334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension, primary, 6", "equivalent_identifiers": ["MONDO:0958334", "OMIM:620777", "UMLS:C5935600", "medgen:1863339"], "information_content": 100.0}
{"id": "HP:0001708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right ventricular failure", "equivalent_identifiers": ["HP:0001708", "NCIT:C197961", "NCIT:C50846", "UMLS:C0235527", "UMLS:C2939447", "MEDDRA:10007563", "MEDDRA:10016163", "MEDDRA:10039152", "MEDDRA:10039163", "MEDDRA:10039164", "MEDDRA:10039340", "MEDDRA:10060947", "SNOMEDCT:128404006", "SNOMEDCT:367363000"], "information_content": 92.8}
{"id": "HP:0033376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alveolar septal thickening", "equivalent_identifiers": ["HP:0033376", "UMLS:C5539545"], "information_content": 100.0}
{"id": "MONDO:0023691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maple syrup urine disease type 1A", "equivalent_identifiers": ["MONDO:0023691", "OMIM:248600", "UMLS:C1855369", "medgen:383668"], "information_content": 100.0}
{"id": "HP:0410066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of hippuric acid in urine", "equivalent_identifiers": ["HP:0410066", "UMLS:C4703632"], "information_content": 100.0}
{"id": "HP:6000124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive 2,4-dinitrophenylhydrazine urine test", "equivalent_identifiers": ["HP:6000124", "UMLS:C5936979"], "information_content": 100.0}
{"id": "HP:0033155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating L-alloisoleucine concentration", "equivalent_identifiers": ["HP:0033155", "UMLS:C5421646"], "information_content": 100.0}
{"id": "HP:0008344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating branched chain amino acid concentration", "equivalent_identifiers": ["HP:0008344", "UMLS:C4024697", "UMLS:C5826347"], "information_content": 100.0}
{"id": "HP:4000207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000207", "UMLS:C5872956"], "information_content": 100.0}
{"id": "MONDO:0010626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome type 1", "equivalent_identifiers": ["MONDO:0010626", "DOID:0060022", "DOID:6620", "OMIM:308230", "orphanet:101088", "UMLS:C0398689", "UMLS:C2348037", "MESH:D053307", "NCIT:C158531", "NCIT:C61244", "SNOMEDCT:403835002", "medgen:96019"], "information_content": 100.0}
{"id": "HP:0030812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged tonsils", "equivalent_identifiers": ["HP:0030812", "UMLS:C0272386", "MEDDRA:10044003", "SNOMEDCT:46689006"], "information_content": 95.4}
{"id": "HP:0034285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enteroviral encephalitis", "equivalent_identifiers": ["HP:0034285", "UMLS:C0338401", "MEDDRA:10063946", "SNOMEDCT:230162007"], "information_content": 100.0}
{"id": "HP:0005419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased T cell activation", "equivalent_identifiers": ["HP:0005419", "UMLS:C1846550"], "information_content": 95.4}
{"id": "MONDO:0054669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 11", "equivalent_identifiers": ["MONDO:0054669", "DOID:0112324", "OMIM:617695", "orphanet:611247", "UMLS:C4540164", "medgen:1627627"], "information_content": 100.0}
{"id": "MONDO:0100532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharospasm, benign essential, susceptibility to", "inheritance": "Sporadic", "equivalent_identifiers": ["MONDO:0100532", "OMIM:606798", "UMLS:C4692845", "medgen:1640286"], "information_content": 100.0}
{"id": "MONDO:0009662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sly Syndrome", "equivalent_identifiers": ["MONDO:0009662", "DOID:12803", "OMIM:253220", "orphanet:584", "UMLS:C0085132", "MESH:D016538", "MEDDRA:10056893", "MEDDRA:10056921", "NCIT:C84903", "SNOMEDCT:124470009", "SNOMEDCT:43916004", "medgen:43108", "icd11.foundation:1563668250", "ICD10:E76.29"], "information_content": 92.8}
{"id": "HP:0034859", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue beta-glucuronidase activity", "equivalent_identifiers": ["HP:0034859", "UMLS:C5826714"], "information_content": 100.0}
{"id": "HP:0025372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loud snoring", "equivalent_identifiers": ["HP:0025372", "UMLS:C2219850"], "information_content": 100.0}
{"id": "HP:0004607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior beaking of lower thoracic vertebrae", "equivalent_identifiers": ["HP:0004607", "UMLS:C4025306"], "information_content": 100.0}
{"id": "MONDO:0002869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart valve disorder", "equivalent_identifiers": ["MONDO:0002869", "DOID:4079", "EFO:0009551", "UMLS:C0018824", "UMLS:C0079485", "UMLS:C0241654", "MESH:D006349", "MESH:D016127", "MEDDRA:10019316", "MEDDRA:10046972", "MEDDRA:10046973", "MEDDRA:10057103", "MEDDRA:10061406", "NCIT:C45525", "SNOMEDCT:368009", "SNOMEDCT:398995000", "medgen:5463", "HP:0001654"], "information_content": 64.4}
{"id": "HP:0006119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal tapering of metacarpals", "equivalent_identifiers": ["HP:0006119", "UMLS:C1854749"], "information_content": 95.4}
{"id": "HP:0003541", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary glycosaminoglycan excretion", "equivalent_identifiers": ["HP:0003541", "UMLS:C4025598"], "information_content": 86.3}
{"id": "HP:0008818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large iliac wing", "equivalent_identifiers": ["HP:0008818", "UMLS:C4024618"], "information_content": 95.4}
{"id": "HP:0008301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermatan sulfate excretion in urine", "equivalent_identifiers": ["HP:0008301", "UMLS:C1854774"], "information_content": 100.0}
{"id": "MONDO:0008047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myokymia 1", "equivalent_identifiers": ["MONDO:0008047", "DOID:0050989", "OMIM:160120", "orphanet:37612", "UMLS:C1719788", "UMLS:C2674766", "MESH:C563278", "MESH:C567174", "SNOMEDCT:421182009", "medgen:318554"], "information_content": 100.0}
{"id": "MONDO:0030815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 11", "equivalent_identifiers": ["MONDO:0030815", "OMIM:619874", "UMLS:C5676985", "medgen:1807308"], "information_content": 100.0}
{"id": "HP:0033479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating bilirubin concentration", "equivalent_identifiers": ["HP:0033479", "UMLS:C5539629"], "information_content": 79.3}
{"id": "MONDO:0040503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharocheilodontic syndrome 2", "equivalent_identifiers": ["MONDO:0040503", "DOID:0080346", "OMIM:617681", "UMLS:C4540127", "medgen:1623594"], "information_content": 100.0}
{"id": "MONDO:0020464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "euryblepharon", "equivalent_identifiers": ["MONDO:0020464", "orphanet:99172", "UMLS:C1303001", "UMLS:C4280305", "SNOMEDCT:400954002", "medgen:724511", "icd11.foundation:2086603843", "HP:0012905"], "information_content": 100.0}
{"id": "MONDO:0001604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lagophthalmos", "equivalent_identifiers": ["MONDO:0001604", "DOID:12959", "UMLS:C0152226", "UMLS:C4022680", "MESH:D000092164", "MEDDRA:10023683", "MEDDRA:10023684", "SNOMEDCT:60735000", "medgen:57517", "icd11.foundation:1200365909", "ICD10:H02.2", "ICD9:374.2", "HP:0030001"], "information_content": 90.9}
{"id": "MONDO:0056795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked spermatogenic failure 1", "equivalent_identifiers": ["MONDO:0056795", "DOID:0050457", "DOID:0070189", "OMIM:305700", "EFO:1001422", "UMLS:C1384583", "MESH:D054331", "MEDDRA:10066833", "MEDDRA:10066836", "NCIT:C168988", "SNOMEDCT:73465006"], "information_content": 100.0}
{"id": "MONDO:0011534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4G", "equivalent_identifiers": ["MONDO:0011534", "DOID:0110196", "OMIM:605285", "orphanet:99953", "UMLS:C1854449", "MESH:C535813", "SNOMEDCT:715799004", "medgen:343122", "icd11.foundation:995395080"], "information_content": 100.0}
{"id": "HP:0007182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral hypomyelination", "equivalent_identifiers": ["HP:0007182", "UMLS:C4024927"], "information_content": 100.0}
{"id": "MONDO:0013039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3M syndrome 2", "equivalent_identifiers": ["MONDO:0013039", "OMIM:612921", "UMLS:C2752041", "MESH:C567862", "medgen:414168"], "information_content": 100.0}
{"id": "MONDO:0013726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1", "equivalent_identifiers": ["MONDO:0013726", "DOID:0070347", "OMIM:614388", "orphanet:330050", "UMLS:C3280660", "medgen:482290"], "information_content": 100.0}
{"id": "HP:0034298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating hexacosanoic acid concentration", "equivalent_identifiers": ["HP:0034298", "UMLS:C5706154"], "information_content": 100.0}
{"id": "MONDO:0007559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "photoparoxysmal response 1", "equivalent_identifiers": ["MONDO:0007559", "OMIM:132100", "UMLS:C1868677", "medgen:358382"], "information_content": 100.0}
{"id": "MONDO:0008827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive pseudorheumatoid arthropathy of childhood", "equivalent_identifiers": ["MONDO:0008827", "DOID:0090004", "OMIM:208230", "orphanet:1159", "UMLS:C0432215", "MESH:C535387", "NCIT:C202612", "SNOMEDCT:254065005", "medgen:96581", "icd11.foundation:280808713", "ICD10:Q77.7"], "information_content": 100.0}
{"id": "HP:0003371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlargement of the proximal femoral epiphysis", "equivalent_identifiers": ["HP:0003371", "UMLS:C1859697"], "information_content": 95.4}
{"id": "HP:0006163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged metacarpophalangeal joints", "equivalent_identifiers": ["HP:0006163", "UMLS:C1859700"], "information_content": 100.0}
{"id": "HP:0004637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased cervical spine mobility", "equivalent_identifiers": ["HP:0004637", "UMLS:C1859692"], "information_content": 100.0}
{"id": "MONDO:0010521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1E", "equivalent_identifiers": ["MONDO:0010521", "DOID:0110058", "OMIM:301200", "UMLS:C1845052", "UMLS:C1845053", "MESH:C538243", "MESH:C564463", "medgen:336847"], "information_content": 100.0}
{"id": "HP:0010299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dentin morphology", "equivalent_identifiers": ["HP:0010299", "UMLS:C4021299"], "information_content": 82.6}
{"id": "MONDO:0012539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 6", "equivalent_identifiers": ["MONDO:0012539", "DOID:0111001", "OMIM:610688", "UMLS:C1853153", "MESH:C537689", "medgen:342805"], "information_content": 100.0}
{"id": "HP:0005957", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Breathing dysregulation", "equivalent_identifiers": ["HP:0005957", "UMLS:C3808046"], "information_content": 92.8}
{"id": "MONDO:0033646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 12", "equivalent_identifiers": ["MONDO:0033646", "DOID:0070498", "OMIM:619055", "UMLS:C5436695", "medgen:1745691"], "information_content": 100.0}
{"id": "HP:0025405", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual fixation instability", "equivalent_identifiers": ["HP:0025405", "UMLS:C4476760"], "information_content": 100.0}
{"id": "MONDO:0014607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 32", "equivalent_identifiers": ["MONDO:0014607", "DOID:0080416", "OMIM:616366", "UMLS:C4225350", "NCIT:C155998", "medgen:909501"], "information_content": 100.0}
{"id": "HP:0010848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with spike-wave complexes (2.5-3.5 Hz)", "equivalent_identifiers": ["HP:0010848", "UMLS:C4023685"], "information_content": 100.0}
{"id": "MONDO:0012545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutral lipid storage myopathy", "equivalent_identifiers": ["MONDO:0012545", "OMIM:610717", "orphanet:98908", "UMLS:C1853136", "MESH:C565192", "SNOMEDCT:699315005", "medgen:339913", "icd11.foundation:1512138529"], "information_content": 100.0}
{"id": "HP:0009058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased muscle lipid content", "equivalent_identifiers": ["HP:0009058", "UMLS:C1837262"], "information_content": 92.8}
{"id": "MONDO:0007739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huntington disease", "equivalent_identifiers": ["MONDO:0007739", "DOID:12858", "OMIM:143100", "orphanet:399", "UMLS:C0020179", "MESH:D006816", "MEDDRA:10020469", "MEDDRA:10070668", "NCIT:C82342", "SNOMEDCT:58756001", "medgen:5654", "icd11.foundation:2132180242", "ICD9:333.4", "KEGG.DISEASE:05016"], "information_content": 89.4}
{"id": "MONDO:0014048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 6", "equivalent_identifiers": ["MONDO:0014048", "DOID:0081002", "OMIM:615109", "UMLS:C3554519", "medgen:767433"], "information_content": 100.0}
{"id": "MONDO:0002363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papilloma", "equivalent_identifiers": ["MONDO:0002363", "DOID:2615", "UMLS:C0030354", "MESH:D010212", "MEDDRA:10033713", "MEDDRA:10033715", "MEDDRA:10033725", "NCIT:C7440", "SNOMEDCT:23730008", "SNOMEDCT:711329002", "medgen:10566", "HP:0012740"], "information_content": 70.2}
{"id": "HP:0025388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyroid nodule", "equivalent_identifiers": ["HP:0025388", "EFO:1001436", "NCIT:C3415", "UMLS:C0040137", "MEDDRA:10043751", "SNOMEDCT:237495005", "MESH:D016606"], "information_content": 80.9}
{"id": "MONDO:0011230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ossification of the posterior longitudinal ligament of the spine", "equivalent_identifiers": ["MONDO:0011230", "DOID:0060887", "OMIM:602475", "EFO:0005895", "UMLS:C0206366", "UMLS:C1865343", "MESH:C537143", "MESH:D017887", "MEDDRA:10058663", "NCIT:C84975", "SNOMEDCT:90448008", "medgen:355447"], "information_content": 100.0}
{"id": "HP:0011986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic ossification", "equivalent_identifiers": ["HP:0011986", "UMLS:C0029396", "MEDDRA:10065453", "MEDDRA:10085883", "SNOMEDCT:128491006", "MESH:D009999"], "information_content": 88.2}
{"id": "MONDO:0024555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts 1", "equivalent_identifiers": ["MONDO:0024555", "DOID:0080316", "OMIM:604004", "UMLS:C5779875", "medgen:1826136"], "information_content": 100.0}
{"id": "HP:0007341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse swelling of cerebral white matter", "equivalent_identifiers": ["HP:0007341", "UMLS:C1858855"], "information_content": 100.0}
{"id": "HP:0006943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse spongiform leukoencephalopathy", "equivalent_identifiers": ["HP:0006943", "UMLS:C1858857"], "information_content": 100.0}
{"id": "MONDO:0007826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "incisors, shovel-shaped", "inheritance": "Polygenic inheritance", "equivalent_identifiers": ["MONDO:0007826", "OMIM:147400", "UMLS:C1409763", "SNOMEDCT:699418008", "medgen:278058"], "information_content": 100.0}
{"id": "HP:0006358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shovel-shaped maxillary central incisors", "equivalent_identifiers": ["HP:0006358", "UMLS:C1833168"], "information_content": 100.0}
{"id": "MONDO:0850514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myopathy and brain white matter abnormalities", "equivalent_identifiers": ["MONDO:0850514", "DOID:0081121", "OMIM:619733", "UMLS:C5676909", "medgen:1812978"], "information_content": 100.0}
{"id": "MONDO:0014622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated focal non-epidermolytic palmoplantar keratoderma", "equivalent_identifiers": ["MONDO:0014622", "DOID:0111708", "DOID:0111711", "OMIM:616400", "orphanet:448264", "UMLS:C4225339", "medgen:895056"], "information_content": 100.0}
{"id": "HP:0005588", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy palmoplantar hyperkeratosis", "equivalent_identifiers": ["HP:0005588", "UMLS:C4021633"], "information_content": 100.0}
{"id": "MONDO:0859226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniotubular dysplasia, Ikegawa type", "equivalent_identifiers": ["MONDO:0859226", "DOID:0112340", "OMIM:619727", "UMLS:C5575335", "medgen:1806238"], "information_content": 100.0}
{"id": "MONDO:0007542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camurati-Engelmann disease", "equivalent_identifiers": ["MONDO:0007542", "DOID:4997", "OMIM:131300", "orphanet:1328", "UMLS:C0011989", "MESH:D003966", "MEDDRA:10087147", "MEDDRA:10087161", "MEDDRA:10088278", "NCIT:C84610", "SNOMEDCT:318761000119105", "SNOMEDCT:34643004", "medgen:4268", "ICD10:Q78.3", "HP:0100252"], "information_content": 95.4}
{"id": "HP:0007807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic nerve compression", "equivalent_identifiers": ["HP:0007807", "UMLS:C0271344", "MEDDRA:10076302", "SNOMEDCT:72983001"], "information_content": 100.0}
{"id": "HP:0000667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phthisis bulbi", "equivalent_identifiers": ["HP:0000667", "UMLS:C0271007", "MEDDRA:10065684", "MEDDRA:10067488", "SNOMEDCT:111510002", "SNOMEDCT:4229009"], "information_content": 95.4}
{"id": "MONDO:0014629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune interstitial lung disease-arthritis syndrome", "equivalent_identifiers": ["MONDO:0014629", "DOID:0081242", "OMIM:616414", "orphanet:444092", "UMLS:C5243948", "UMLS:C5975714", "MEDDRA:10083948", "SNOMEDCT:1222679006", "medgen:1800821"], "information_content": 100.0}
{"id": "HP:0040223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary hemorrhage", "equivalent_identifiers": ["HP:0040223", "NCIT:C78578", "UMLS:C0151701", "UMLS:C0392459", "UMLS:C4280720", "MEDDRA:10019558", "MEDDRA:10019582", "MEDDRA:10025100", "MEDDRA:10037394", "MEDDRA:10037397", "MEDDRA:10055822", "MEDDRA:10055841", "MEDDRA:10055862", "MEDDRA:10071870", "SNOMEDCT:78144005"], "information_content": 90.9}
{"id": "HP:0012574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesangial hypercellularity", "equivalent_identifiers": ["HP:0012574", "UMLS:C0545017", "UMLS:C4281741", "SNOMEDCT:125510009"], "information_content": 100.0}
{"id": "MONDO:0001645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "crescentic glomerulonephritis", "equivalent_identifiers": ["MONDO:0001645", "DOID:13139", "UMLS:C0403416", "MEDDRA:10011379", "NCIT:C128143", "NCIT:C35444", "SNOMEDCT:236398000", "medgen:96040", "HP:0008653"], "information_content": 95.4}
{"id": "MONDO:0010135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 3", "equivalent_identifiers": ["MONDO:0010135", "DOID:0112187", "OMIM:274700", "UMLS:C0342194", "MESH:C562769", "SNOMEDCT:23536000", "medgen:90976"], "information_content": 100.0}
{"id": "HP:0012559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased T3/T4 ratio", "equivalent_identifiers": ["HP:0012559", "UMLS:C4022846"], "information_content": 100.0}
{"id": "MONDO:0013625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 17", "equivalent_identifiers": ["MONDO:0013625", "DOID:0060897", "OMIM:614203", "UMLS:C3280133", "NCIT:C201520", "medgen:481763"], "information_content": 100.0}
{"id": "MONDO:0013807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1E", "equivalent_identifiers": ["MONDO:0013807", "DOID:0110869", "OMIM:614565", "UMLS:C3281215", "medgen:482845"], "information_content": 100.0}
{"id": "MONDO:0010031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sjogren-Larsson syndrome", "equivalent_identifiers": ["MONDO:0010031", "DOID:14501", "OMIM:270200", "orphanet:816", "UMLS:C0037231", "MESH:D016111", "MEDDRA:10048676", "MEDDRA:10059143", "NCIT:C85070", "SNOMEDCT:111303009", "medgen:11443", "icd11.foundation:418359090"], "information_content": 95.4}
{"id": "HP:0030501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular crystals", "equivalent_identifiers": ["HP:0030501", "UMLS:C4072988"], "information_content": 100.0}
{"id": "HP:0007727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opacification of the corneal epithelium", "equivalent_identifiers": ["HP:0007727", "UMLS:C1849198"], "information_content": 95.4}
{"id": "HP:6000720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue fatty aldehyde dehydrogenase activity", "equivalent_identifiers": ["HP:6000720", "UMLS:C5937453"], "information_content": 100.0}
{"id": "HP:0032028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular dots", "equivalent_identifiers": ["HP:0032028", "UMLS:C4732810"], "information_content": 100.0}
{"id": "MONDO:0030801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosomy 7 myelodysplasia and leukemia syndrome 2", "equivalent_identifiers": ["MONDO:0030801", "OMIM:619041", "UMLS:C5436668", "medgen:1762901"], "information_content": 95.4}
{"id": "MONDO:0971016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class II deficiency 5", "equivalent_identifiers": ["MONDO:0971016", "OMIM:620818", "UMLS:C1859538", "medgen:349183"], "information_content": 100.0}
{"id": "HP:0031390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced MHC II cell surface expression", "equivalent_identifiers": ["HP:0031390", "UMLS:C4531158"], "information_content": 100.0}
{"id": "MONDO:0008454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal intradural arachnoid cysts", "equivalent_identifiers": ["MONDO:0008454", "OMIM:182990", "UMLS:C0344485", "MESH:C536878", "SNOMEDCT:253164002", "medgen:83372"], "information_content": 100.0}
{"id": "MONDO:0010896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigment dispersion syndrome", "equivalent_identifiers": ["MONDO:0010896", "DOID:0060680", "OMIM:600510", "UMLS:C1271398", "MESH:C563184", "MEDDRA:10052134", "NCIT:C187288", "SNOMEDCT:392133001", "medgen:220866"], "information_content": 100.0}
{"id": "MONDO:0970998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auroneurodental syndrome", "equivalent_identifiers": ["MONDO:0970998", "OMIM:620830", "UMLS:C5889721", "medgen:1861965"], "information_content": 100.0}
{"id": "HP:0006342", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peg-shaped maxillary lateral incisors", "equivalent_identifiers": ["HP:0006342", "UMLS:C4025060"], "information_content": 100.0}
{"id": "MONDO:0014881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transketolase deficiency", "equivalent_identifiers": ["MONDO:0014881", "OMIM:617044", "orphanet:488618", "UMLS:C5700245", "SNOMEDCT:1237512003", "medgen:1814561"], "information_content": 100.0}
{"id": "MONDO:0010149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transcobalamin II deficiency", "equivalent_identifiers": ["MONDO:0010149", "DOID:0050818", "OMIM:275350", "orphanet:859", "UMLS:C0342701", "NCIT:C142806", "SNOMEDCT:237934001", "medgen:137976"], "information_content": 100.0}
{"id": "HP:0001980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megaloblastic bone marrow", "equivalent_identifiers": ["HP:0001980", "UMLS:C0238801", "SNOMEDCT:167921008"], "information_content": 100.0}
{"id": "MONDO:0007336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated cleft palate", "equivalent_identifiers": ["MONDO:0007336", "DOID:0110213", "OMIM:119540", "UMLS:C1837218", "medgen:332392", "ICD10:Q35.1", "ICD10:Q35.3", "ICD10:Q35.5", "ICD10:Q35.7", "ICD10:Q35.9"], "information_content": 95.4}
{"id": "MONDO:0014057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maple syrup urine disease, mild variant", "equivalent_identifiers": ["MONDO:0014057", "OMIM:615135", "UMLS:C3554575", "medgen:767489"], "information_content": 100.0}
{"id": "MONDO:0013299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 6q11-q14 deletion syndrome", "equivalent_identifiers": ["MONDO:0013299", "DOID:0060423", "OMIM:613544", "UMLS:C3150790", "UMLS:C3150791", "medgen:462140"], "information_content": 100.0}
{"id": "MONDO:0010076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Irapa type", "equivalent_identifiers": ["MONDO:0010076", "OMIM:271650", "orphanet:93351", "UMLS:C0432213", "MESH:C562958", "SNOMEDCT:717330004", "medgen:98476", "icd11.foundation:1355637988"], "information_content": 100.0}
{"id": "HP:0004590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic sacrum", "equivalent_identifiers": ["HP:0004590", "UMLS:C1970816"], "information_content": 95.4}
{"id": "MONDO:0010000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction", "equivalent_identifiers": ["MONDO:0010000", "OMIM:268315", "UMLS:C1849333", "MESH:C564829", "medgen:376565"], "information_content": 100.0}
{"id": "MONDO:0007617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 1", "equivalent_identifiers": ["MONDO:0007617", "DOID:0070042", "OMIM:135900", "UMLS:C3281201", "MESH:C538391", "medgen:482831"], "information_content": 100.0}
{"id": "HP:0006237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent interphalangeal joints", "equivalent_identifiers": ["HP:0006237", "UMLS:C1859115"], "information_content": 95.4}
{"id": "HP:0009747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbosacral hirsutism", "equivalent_identifiers": ["HP:0009747", "UMLS:C1851095"], "information_content": 100.0}
{"id": "HP:0006863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe expressive language delay", "equivalent_identifiers": ["HP:0006863", "UMLS:C1851085", "SNOMEDCT:62221000119105"], "information_content": 100.0}
{"id": "HP:0100391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of the 5th toe", "equivalent_identifiers": ["HP:0100391", "UMLS:C4021006"], "information_content": 100.0}
{"id": "HP:0010185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the distal phalanges of the toes", "equivalent_identifiers": ["HP:0010185", "UMLS:C4020773", "UMLS:C4021326"], "information_content": 80.6}
{"id": "MONDO:0013302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 11", "equivalent_identifiers": ["MONDO:0013302", "DOID:0111118", "OMIM:613550", "UMLS:C3150796", "medgen:462146"], "information_content": 100.0}
{"id": "MONDO:0012287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome, type I, nonsyndromic ocular", "equivalent_identifiers": ["MONDO:0012287", "OMIM:609508", "UMLS:C1836080", "MESH:C563709", "medgen:322820"], "information_content": 100.0}
{"id": "MONDO:0005464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhegmatogenous retinal detachment", "equivalent_identifiers": ["MONDO:0005464", "EFO:0005240", "UMLS:C0271055", "MEDDRA:10065569", "NCIT:C118755", "SNOMEDCT:19620000", "medgen:489829", "HP:0012230"], "information_content": 95.4}
{"id": "MONDO:0014635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with coloboma 10", "equivalent_identifiers": ["MONDO:0014635", "OMIM:616428", "UMLS:C4225330", "medgen:909133"], "information_content": 100.0}
{"id": "HP:0034567", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic pit", "equivalent_identifiers": ["HP:0034567", "UMLS:C0338504", "MEDDRA:10079967", "MEDDRA:10079968"], "information_content": 100.0}
{"id": "HP:0025492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microcoria", "equivalent_identifiers": ["HP:0025492", "UMLS:C4476808"], "information_content": 100.0}
{"id": "MONDO:0011003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1E", "equivalent_identifiers": ["MONDO:0011003", "DOID:0110433", "OMIM:601154", "UMLS:C1832680", "MESH:C563384", "medgen:331341"], "information_content": 100.0}
{"id": "MONDO:0009344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0009344", "OMIM:235760", "orphanet:2153", "UMLS:C1856110", "MESH:C535615", "SNOMEDCT:721223002", "medgen:344653"], "information_content": 100.0}
{"id": "MONDO:0014885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 10", "equivalent_identifiers": ["MONDO:0014885", "OMIM:617050", "orphanet:664511", "UMLS:C4310746", "medgen:934713"], "information_content": 100.0}
{"id": "MONDO:0032703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis", "equivalent_identifiers": ["MONDO:0032703", "OMIM:618363", "UMLS:C5193055", "medgen:1676818"], "information_content": 100.0}
{"id": "MONDO:0013802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile cerebellar-retinal degeneration", "equivalent_identifiers": ["MONDO:0013802", "DOID:0050883", "OMIM:614559", "orphanet:313850", "UMLS:C3281192", "SNOMEDCT:782822006", "medgen:482822"], "information_content": 100.0}
{"id": "MONDO:0009976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal degeneration and epilepsy", "equivalent_identifiers": ["MONDO:0009976", "OMIM:267740", "UMLS:C1849416", "MESH:C564847", "medgen:341450"], "information_content": 100.0}
{"id": "MONDO:0100102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal akinesia deformation sequence 2", "equivalent_identifiers": ["MONDO:0100102", "DOID:0111378", "OMIM:618388", "UMLS:C4760576", "medgen:1678048"], "information_content": 100.0}
{"id": "MONDO:0030840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mismatch repair cancer syndrome 2", "equivalent_identifiers": ["MONDO:0030840", "OMIM:619096", "UMLS:C5436806", "medgen:1750327"], "information_content": 100.0}
{"id": "MONDO:0004963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pre T-ALL", "equivalent_identifiers": ["MONDO:0004963", "DOID:5603", "EFO:0000209", "UMLS:C1961099", "MESH:D054218", "MEDDRA:10042987", "MEDDRA:10054655", "MEDDRA:10066105", "MEDDRA:10066110", "NCIT:C27261", "NCIT:C3183", "SNOMEDCT:128824003", "SNOMEDCT:277575008", "medgen:368378", "HP:0006727"], "information_content": 73.1}
{"id": "MONDO:0012240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 23", "equivalent_identifiers": ["MONDO:0012240", "DOID:0110932", "OMIM:609285", "UMLS:C1836447", "MESH:C538351", "NCIT:C164225", "medgen:324513"], "information_content": 100.0}
{"id": "HP:0030230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central core regions in muscle fibers", "equivalent_identifiers": ["HP:0030230", "UMLS:C4022568"], "information_content": 100.0}
{"id": "MONDO:0007443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital unilateral hypoplasia of depressor anguli oris", "equivalent_identifiers": ["MONDO:0007443", "OMIM:125520", "orphanet:1166", "UMLS:C0431406", "UMLS:C4280327", "MESH:C535349", "MEDDRA:10084253", "MEDDRA:10085379", "SNOMEDCT:1345055005", "SNOMEDCT:51409009", "medgen:140911", "HP:0011333"], "information_content": 100.0}
{"id": "MONDO:0008849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrophoderma vermiculata", "equivalent_identifiers": ["MONDO:0008849", "DOID:0080756", "OMIM:209700", "orphanet:79100", "UMLS:C0263429", "MEDDRA:10083837", "MEDDRA:10083839", "SNOMEDCT:2736005", "medgen:82666"], "information_content": 100.0}
{"id": "MONDO:0018855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis pilaris atrophicans", "equivalent_identifiers": ["MONDO:0018855", "DOID:0080751", "OMIM:604093", "orphanet:498", "UMLS:C0263428", "MESH:C537412", "MEDDRA:10083835", "SNOMEDCT:400059005", "SNOMEDCT:400126005", "medgen:75520", "icd11.foundation:273325594", "HP:0100837"], "information_content": 87.2}
{"id": "MONDO:0011389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 16", "equivalent_identifiers": ["MONDO:0011389", "DOID:0110547", "OMIM:603964", "UMLS:C1858916", "MESH:C565832", "medgen:349054"], "information_content": 100.0}
{"id": "MONDO:0009488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus posticus circumscriptus", "equivalent_identifiers": ["MONDO:0009488", "OMIM:244600", "UMLS:C1855645", "UMLS:C1855646", "MESH:C536151", "MESH:C565455", "medgen:340922"], "information_content": 100.0}
{"id": "HP:0005640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vertebral segmentation and fusion", "equivalent_identifiers": ["HP:0005640", "UMLS:C4025167"], "information_content": 100.0}
{"id": "HP:0008511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central posterior corneal opacity", "equivalent_identifiers": ["HP:0008511", "UMLS:C0423260", "SNOMEDCT:246967007"], "information_content": 100.0}
{"id": "MONDO:0800436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1", "equivalent_identifiers": ["MONDO:0800436", "DOID:0081124", "OMIM:213980", "orphanet:1394", "UMLS:C1859252", "UMLS:C5677021", "MESH:C565862", "SNOMEDCT:720635002", "medgen:1808104"], "information_content": 100.0}
{"id": "HP:0002290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poliosis", "equivalent_identifiers": ["HP:0002290", "UMLS:C0221262", "MEDDRA:10065628", "SNOMEDCT:14240001"], "information_content": 100.0}
{"id": "MONDO:0060662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia-like", "equivalent_identifiers": ["MONDO:0060662", "OMIM:617911", "UMLS:C4693556", "medgen:1633207"], "information_content": 100.0}
{"id": "MONDO:0001705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pure red-cell aplasia", "equivalent_identifiers": ["MONDO:0001705", "DOID:1340", "UMLS:C0034902", "MESH:D012010", "MEDDRA:10002965", "MEDDRA:10002966", "MEDDRA:10038184", "NCIT:C34974", "SNOMEDCT:50715003", "medgen:11154", "HP:0012410"], "information_content": 78.8}
{"id": "MONDO:0011152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PHGDH deficiency", "equivalent_identifiers": ["MONDO:0011152", "DOID:0050722", "OMIM:601815", "orphanet:79351", "UMLS:C1866174", "MESH:C566618", "medgen:400935"], "information_content": 100.0}
{"id": "HP:0034691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced 3-phosphoglycerate dehydrogenase activity", "equivalent_identifiers": ["HP:0034691", "UMLS:C5826593"], "information_content": 100.0}
{"id": "MONDO:0957955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 114, folate-responsive", "equivalent_identifiers": ["MONDO:0957955", "DOID:0061080", "OMIM:620603", "UMLS:C5882719", "medgen:1848890"], "information_content": 100.0}
{"id": "HP:0031250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lip fissure", "equivalent_identifiers": ["HP:0031250", "UMLS:C0240200", "SNOMEDCT:403440002"], "information_content": 100.0}
{"id": "MONDO:0033644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1", "equivalent_identifiers": ["MONDO:0033644", "OMIM:619082", "UMLS:C5436769", "medgen:1755099"], "information_content": 100.0}
{"id": "MONDO:0009411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune polyendocrine syndrome type 1", "equivalent_identifiers": ["MONDO:0009411", "DOID:0050167", "OMIM:240300", "orphanet:3453", "UMLS:C0085859", "UMLS:C1855868", "UMLS:C1855869", "MEDDRA:10036072", "NCIT:C129727", "SNOMEDCT:11244009", "medgen:39125"], "information_content": 100.0}
{"id": "MONDO:0004768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconjunctivitis", "equivalent_identifiers": ["MONDO:0004768", "DOID:9368", "UMLS:C0022573", "MESH:D007637", "MEDDRA:10023348", "MEDDRA:10023352", "NCIT:C34744", "SNOMEDCT:88151007", "medgen:44014", "ICD10:H16.2", "ICD9:370.40", "HP:0001096"], "information_content": 86.3}
{"id": "HP:0034189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-thyroid-stimulating hormone receptor antibody positivity", "equivalent_identifiers": ["HP:0034189", "UMLS:C5676780"], "information_content": 100.0}
{"id": "MONDO:0005364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Graves disease", "equivalent_identifiers": ["MONDO:0005364", "DOID:12361", "EFO:0004237", "UMLS:C0018213", "UMLS:C5546093", "MESH:D006111", "MEDDRA:10004161", "MEDDRA:10015679", "MEDDRA:10015680", "MEDDRA:10018494", "MEDDRA:10018706", "MEDDRA:10065624", "MEDDRA:10068004", "MEDDRA:10074037", "NCIT:C3071", "SNOMEDCT:353295004", "SNOMEDCT:55807009", "medgen:6677", "ICD10:E05.0", "HP:0100647"], "information_content": 86.3}
{"id": "MONDO:0001443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tympanosclerosis", "equivalent_identifiers": ["MONDO:0001443", "DOID:1214", "EFO:1001812", "UMLS:C0155477", "UMLS:C0395887", "UMLS:C3494473", "MESH:D000092163", "MESH:D063371", "MEDDRA:10045218", "MEDDRA:10087692", "SNOMEDCT:23606001", "medgen:473094", "icd11.foundation:28175464", "ICD9:385.09", "HP:0020123"], "information_content": 100.0}
{"id": "HP:5000011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-GAD65 antibody", "equivalent_identifiers": ["HP:5000011", "UMLS:C5558409"], "information_content": 100.0}
{"id": "HP:0034071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-21-hydroxylase antibody positivity", "equivalent_identifiers": ["HP:0034071", "UMLS:C5676668"], "information_content": 100.0}
{"id": "HP:4000030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-reticulin antibody positivity", "equivalent_identifiers": ["HP:4000030", "UMLS:C5539879"], "information_content": 100.0}
{"id": "MONDO:0005543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune hepatitis type 1", "equivalent_identifiers": ["MONDO:0005543", "orphanet:563576", "UMLS:C0520463", "UMLS:C4303164", "MEDDRA:10008827", "MEDDRA:10019755", "NCIT:C176731", "SNOMEDCT:197284004", "SNOMEDCT:721711009", "medgen:928833", "icd11.foundation:260422751", "HP:0200120"], "information_content": 100.0}
{"id": "HP:6000343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antiparietal cell antibody positivity", "equivalent_identifiers": ["HP:6000343", "UMLS:C5937138"], "information_content": 100.0}
{"id": "HP:0033637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-endomysial antibody positivity", "equivalent_identifiers": ["HP:0033637", "UMLS:C5539735"], "information_content": 100.0}
{"id": "HP:0034055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-side-chain cleavage enzyme antibody positivity", "equivalent_identifiers": ["HP:0034055", "UMLS:C5676655"], "information_content": 100.0}
{"id": "MONDO:0014372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 19", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014372", "DOID:0111025", "OMIM:615860", "UMLS:C4014501", "medgen:862938"], "information_content": 100.0}
{"id": "HP:0030844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undetectable pattern electroretinogram", "equivalent_identifiers": ["HP:0030844", "UMLS:C4280746"], "information_content": 100.0}
{"id": "MONDO:0014906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;", "equivalent_identifiers": ["MONDO:0014906", "DOID:0111557", "OMIM:617087", "UMLS:C4310725", "NCIT:C150647", "medgen:934692"], "information_content": 100.0}
{"id": "MONDO:0014621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 9", "equivalent_identifiers": ["MONDO:0014621", "DOID:0110226", "OMIM:616399", "UMLS:C4225340", "medgen:903155"], "information_content": 100.0}
{"id": "OMIM:615848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10", "equivalent_identifiers": ["OMIM:615848", "UMLS:C4014476"]}
{"id": "MONDO:0005031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibromatosis", "equivalent_identifiers": ["MONDO:0005031", "EFO:0000497", "UMLS:C0016048", "UMLS:C0079218", "UMLS:C5970494", "MEDDRA:10049444", "MEDDRA:10059352", "MEDDRA:10059353", "NCIT:C3042", "SNOMEDCT:19928005", "SNOMEDCT:399994005", "SNOMEDCT:400055004", "SNOMEDCT:47284001", "SNOMEDCT:723976005", "SNOMEDCT:725049005", "medgen:8836", "HP:0100245"], "information_content": 79.0}
{"id": "MONDO:0013316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "occult macular dystrophy", "equivalent_identifiers": ["MONDO:0013316", "DOID:0050578", "OMIM:613587", "orphanet:247834", "UMLS:C3150833", "SNOMEDCT:770667002", "medgen:462183", "icd11.foundation:863463706", "HP:0030636"], "information_content": 100.0}
{"id": "HP:0007924", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slow decrease in visual acuity", "equivalent_identifiers": ["HP:0007924", "UMLS:C1853141", "UMLS:C3278981"], "information_content": 100.0}
{"id": "HP:0030468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal multifocal electroretinogram", "equivalent_identifiers": ["HP:0030468", "UMLS:C4072958"], "information_content": 92.8}
{"id": "HP:0030466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal full-field electroretinogram", "equivalent_identifiers": ["HP:0030466", "UMLS:C4072956"], "information_content": 79.3}
{"id": "HP:0030604", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fundus fluorescein angiography", "equivalent_identifiers": ["HP:0030604", "UMLS:C4073074"], "information_content": 95.4}
{"id": "MONDO:0013017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 5", "equivalent_identifiers": ["MONDO:0013017", "DOID:0110702", "OMIM:612841", "UMLS:C2748535", "MESH:C567554", "medgen:440568"], "information_content": 100.0}
{"id": "MONDO:0012664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 3", "equivalent_identifiers": ["MONDO:0012664", "DOID:0050942", "OMIM:611390", "orphanet:314603", "UMLS:C1969645", "MESH:C566956", "SNOMEDCT:784343003", "medgen:370715"], "information_content": 100.0}
{"id": "MONDO:0010415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, reducing body, X-linked, childhood-onset", "equivalent_identifiers": ["MONDO:0010415", "DOID:0080687", "OMIM:300718", "UMLS:C2678015", "UMLS:C4225159", "MESH:C567468", "medgen:904593"], "information_content": 100.0}
{"id": "HP:0034320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber intracytoplasmic reducing inclusion bodies", "equivalent_identifiers": ["HP:0034320", "UMLS:C5706166"], "information_content": 100.0}
{"id": "MONDO:0010632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 1", "equivalent_identifiers": ["MONDO:0010632", "DOID:0080468", "OMIM:308350", "UMLS:C3463992", "NCIT:C179866", "medgen:483052"], "information_content": 100.0}
{"id": "MONDO:0007111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysm, intracranial berry type 1", "equivalent_identifiers": ["MONDO:0007111", "DOID:0080964", "OMIM:105800", "UMLS:C1862932", "MESH:C566284", "medgen:354864"], "information_content": 100.0}
{"id": "MONDO:0009396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria", "equivalent_identifiers": ["MONDO:0009396", "OMIM:239199", "UMLS:C1855924", "MESH:C565496", "medgen:344611"], "information_content": 100.0}
{"id": "MONDO:0010193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weaver syndrome", "equivalent_identifiers": ["MONDO:0010193", "DOID:14731", "OMIM:277590", "orphanet:3447", "UMLS:C0220765", "UMLS:C0265210", "MESH:C536687", "MESH:C562443", "MEDDRA:10083271", "NCIT:C125599", "SNOMEDCT:63119004", "medgen:120511", "icd11.foundation:2042913723"], "information_content": 100.0}
{"id": "HP:0001615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hoarse cry", "equivalent_identifiers": ["HP:0001615", "UMLS:C2678303"], "information_content": 100.0}
{"id": "HP:0003911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared humerus", "equivalent_identifiers": ["HP:0003911", "UMLS:C4020835", "UMLS:C4020912"], "information_content": 100.0}
{"id": "HP:0010300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally low-pitched voice", "equivalent_identifiers": ["HP:0010300", "UMLS:C4023915"], "information_content": 100.0}
{"id": "HP:0200000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysharmonic skeletal maturation", "equivalent_identifiers": ["HP:0200000", "UMLS:C4020918"], "information_content": 89.4}
{"id": "HP:0001863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toe curvature", "equivalent_identifiers": ["HP:0001863", "UMLS:C4021770", "UMLS:C4280587", "SNOMEDCT:723888006"], "information_content": 88.2}
{"id": "MONDO:0014911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy", "equivalent_identifiers": ["MONDO:0014911", "OMIM:617093", "orphanet:541423", "EFO:0009155", "UMLS:C4310720", "medgen:934687"], "information_content": 100.0}
{"id": "MONDO:0014705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis 6", "equivalent_identifiers": ["MONDO:0014705", "DOID:0061008", "OMIM:616602", "orphanet:672985", "UMLS:C4225269", "medgen:904675"], "information_content": 100.0}
{"id": "HP:0011322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right unilambdoid synostosis", "equivalent_identifiers": ["HP:0011322", "UMLS:C4023414"], "information_content": 100.0}
{"id": "MONDO:0030440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 22", "equivalent_identifiers": ["MONDO:0030440", "DOID:0081448", "OMIM:619531", "UMLS:C5561989", "medgen:1794199"], "information_content": 100.0}
{"id": "MONDO:0010807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 2", "equivalent_identifiers": ["MONDO:0010807", "DOID:0110477", "OMIM:600060", "UMLS:C1838701", "MESH:C564007", "medgen:325485"], "information_content": 100.0}
{"id": "MONDO:0011198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Missouri type", "equivalent_identifiers": ["MONDO:0011198", "DOID:0080030", "OMIM:602111", "orphanet:93356", "UMLS:C1865832", "UMLS:C2748495", "MESH:C566574", "MESH:C567545", "SNOMEDCT:719171005", "medgen:355563", "icd11.foundation:1593289281"], "information_content": 100.0}
{"id": "HP:0006603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared, irregular rib ends", "equivalent_identifiers": ["HP:0006603", "UMLS:C1865833"], "information_content": 100.0}
{"id": "HP:0008476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular sclerotic endplates", "equivalent_identifiers": ["HP:0008476", "UMLS:C1868554"], "information_content": 100.0}
{"id": "MONDO:0010923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal myopathy with focal depletion of mitochondria", "equivalent_identifiers": ["MONDO:0010923", "OMIM:600706", "orphanet:521305", "UMLS:C1833453", "MESH:C563453", "SNOMEDCT:1197756002", "medgen:318881"], "information_content": 100.0}
{"id": "MONDO:0010130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dihydropyrimidine dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0010130", "DOID:14218", "OMIM:274270", "orphanet:1675", "UMLS:C0274576", "UMLS:C1959620", "UMLS:C4025582", "MESH:D054067", "MEDDRA:10052622", "MEDDRA:10075669", "NCIT:C84672", "SNOMEDCT:32393008", "SNOMEDCT:77365006", "medgen:409522", "icd11.foundation:701689290", "HP:0003654"], "information_content": 92.8}
{"id": "HP:0012127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uraciluria", "equivalent_identifiers": ["HP:0012127", "UMLS:C4021833"], "information_content": 100.0}
{"id": "HP:6000119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary dihydrothymine level", "equivalent_identifiers": ["HP:6000119", "UMLS:C5936974"], "information_content": 100.0}
{"id": "MONDO:0014515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy with central cone involvement", "equivalent_identifiers": ["MONDO:0014515", "OMIM:616170", "UMLS:C4015371", "medgen:863808"], "information_content": 100.0}
{"id": "MONDO:0030995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "global developmental delay with speech and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0030995", "OMIM:619243", "UMLS:C5543226", "medgen:1787991"], "information_content": 100.0}
{"id": "MONDO:0007265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome 1", "equivalent_identifiers": ["MONDO:0007265", "DOID:0111460", "OMIM:115150"], "information_content": 100.0}
{"id": "HP:0008113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple plantar creases", "equivalent_identifiers": ["HP:0008113", "UMLS:C1861873"], "information_content": 100.0}
{"id": "HP:0010807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Open bite", "equivalent_identifiers": ["HP:0010807", "UMLS:C0266061", "MEDDRA:10088849", "SNOMEDCT:35580009", "MESH:D024343"], "information_content": 92.8}
{"id": "HP:0030939", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palpebral thickening", "equivalent_identifiers": ["HP:0030939", "UMLS:C4476868", "MEDDRA:10072719"], "information_content": 100.0}
{"id": "HP:0001093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic nerve dysplasia", "equivalent_identifiers": ["HP:0001093", "UMLS:C2676026"], "information_content": 100.0}
{"id": "HP:0007481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpigmented nevi", "equivalent_identifiers": ["HP:0007481", "UMLS:C0746889"], "information_content": 100.0}
{"id": "HP:0009908", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior creases of earlobe", "equivalent_identifiers": ["HP:0009908", "UMLS:C1851897"], "information_content": 100.0}
{"id": "MONDO:0007744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholesterol-ester transfer protein deficiency", "equivalent_identifiers": ["MONDO:0007744", "DOID:0111369", "OMIM:143470", "UMLS:C3149462", "UMLS:C3149463", "UMLS:C3875011", "SNOMEDCT:15771000119109", "medgen:840020"], "information_content": 100.0}
{"id": "MONDO:0015903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperalphalipoproteinemia", "equivalent_identifiers": ["MONDO:0015903", "orphanet:181428", "UMLS:C0342883", "UMLS:C4551591", "MESH:C564591", "NCIT:C128806", "SNOMEDCT:238080004", "medgen:87465", "icd11.foundation:1599779547", "HP:0012184"], "information_content": 92.8}
{"id": "OMIM:145001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperparathyroidism-Jaw Tumor Syndrome", "equivalent_identifiers": ["OMIM:145001", "UMLS:C1704981", "UMLS:C1840394", "MESH:C563273", "MESH:C564165", "MEDDRA:10090585", "MEDDRA:10090586", "NCIT:C48287", "SNOMEDCT:702378002"], "information_content": 92.8}
{"id": "HP:0006735", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal cortical adenoma", "equivalent_identifiers": ["HP:0006735", "UMLS:C0346253", "SNOMEDCT:254919009"], "information_content": 100.0}
{"id": "MONDO:0004483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid gland oncocytic adenoma", "equivalent_identifiers": ["MONDO:0004483", "DOID:8162", "UMLS:C1336750", "NCIT:C6042", "medgen:237009", "HP:0006781"], "information_content": 100.0}
{"id": "MONDO:0017884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary renal cell carcinoma", "equivalent_identifiers": ["MONDO:0017884", "DOID:4465", "orphanet:319298", "EFO:0000640", "UMLS:C1306837", "UMLS:C1336078", "UMLS:C2931899", "UMLS:CN205129", "MESH:C538614", "MEDDRA:10078493", "NCIT:C27890", "NCIT:C6975", "SNOMEDCT:733607005", "SNOMEDCT:733608000", "medgen:266300", "HP:0006766"], "information_content": 82.6}
{"id": "MONDO:0006890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parathyroid gland adenoma", "equivalent_identifiers": ["MONDO:0006890", "DOID:7608", "EFO:1001087", "UMLS:C0262587", "MEDDRA:10033940", "NCIT:C156757", "NCIT:C3916", "SNOMEDCT:128474007", "medgen:75502", "ICD10:D35.1", "HP:0002897"], "information_content": 81.7}
{"id": "MONDO:0030437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIw", "equivalent_identifiers": ["MONDO:0030437", "DOID:0051051", "OMIM:619525", "UMLS:C5561986", "medgen:1794196"], "information_content": 100.0}
{"id": "MONDO:0009315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor XII deficiency", "equivalent_identifiers": ["MONDO:0009315", "DOID:2231", "OMIM:234000", "orphanet:330", "UMLS:C0015526", "MESH:D005175", "MEDDRA:10051806", "NCIT:C131740", "SNOMEDCT:46981006", "medgen:8772", "HP:0004841"], "information_content": 90.9}
{"id": "HP:0008357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced factor XIII activity", "equivalent_identifiers": ["HP:0008357", "UMLS:C4024692"], "information_content": 92.8}
{"id": "MONDO:0008164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 1", "equivalent_identifiers": ["MONDO:0008164", "DOID:0060920", "OMIM:166800", "UMLS:C4551901", "medgen:1639517"], "information_content": 100.0}
{"id": "MONDO:0005349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis", "equivalent_identifiers": ["MONDO:0005349", "DOID:12185", "OMIM.PS:166800", "EFO:0004213", "UMLS:C0029696", "UMLS:C0029899", "MESH:D010040", "MEDDRA:10033103", "MEDDRA:10033107", "MEDDRA:10033108", "MEDDRA:10060807", "NCIT:C185242", "SNOMEDCT:11543004", "medgen:10508", "icd11.foundation:1242649410", "ICD10:H80.80", "ICD9:387.8", "HP:0000362"], "information_content": 83.6}
{"id": "MONDO:0008605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triphalangeal thumb, Nonopposable", "equivalent_identifiers": ["MONDO:0008605", "OMIM:190600", "UMLS:C2931238", "MESH:C536562", "medgen:444008", "HP:0005725"], "information_content": 100.0}
{"id": "MONDO:0005575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colorectal cancer", "equivalent_identifiers": ["MONDO:0005575", "DOID:5672", "DOID:9256", "OMIM:114500", "UMLS:C0346629", "MEDDRA:10010023", "MEDDRA:10025615", "NCIT:C4978", "SNOMEDCT:363510005", "medgen:83428", "ICD10:C18.9", "KEGG.DISEASE:05210"], "information_content": 59.5}
{"id": "MONDO:0016262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leiomyosarcoma of the corpus uteri", "equivalent_identifiers": ["MONDO:0016262", "DOID:5289", "orphanet:213625", "EFO:1001974", "UMLS:C0280631", "MEDDRA:10046799", "NCIT:C6340", "SNOMEDCT:447389009", "SNOMEDCT:770559003", "medgen:83679", "HP:0002891"], "information_content": 80.2}
{"id": "MONDO:0008104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 1", "equivalent_identifiers": ["MONDO:0008104", "DOID:0060578", "OMIM:163950", "UMLS:C0041409", "UMLS:C1527404", "UMLS:C4551602", "NCIT:C75459", "medgen:1638960"], "information_content": 100.0}
{"id": "MONDO:0017827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant peripheral nerve sheath tumor", "equivalent_identifiers": ["MONDO:0017827", "DOID:5940", "orphanet:3148", "EFO:0000760", "UMLS:C0206729", "UMLS:C0751690", "UMLS:C1321708", "MEDDRA:10026667", "MEDDRA:10029236", "MEDDRA:10029239", "MEDDRA:10029273", "MEDDRA:10029276", "MEDDRA:10034589", "MEDDRA:10034590", "MEDDRA:10058387", "MEDDRA:10061527", "MEDDRA:10073836", "MEDDRA:10081318", "NCIT:C3798", "SNOMEDCT:19897006", "SNOMEDCT:404037002", "SNOMEDCT:77418004", "medgen:155614", "icd11.foundation:71413945", "HP:0100697"], "information_content": 74.7}
{"id": "MONDO:0007805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 2", "equivalent_identifiers": ["MONDO:0007805", "DOID:0110699", "OMIM:146520", "UMLS:C1840299", "MESH:C564143", "medgen:374435"], "information_content": 100.0}
{"id": "MONDO:0008036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenia, limb-girdle, autoimmune", "equivalent_identifiers": ["MONDO:0008036", "OMIM:159400", "UMLS:C1834635", "MESH:C563552", "medgen:331795"], "information_content": 100.0}
{"id": "MONDO:0006456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymoma", "equivalent_identifiers": ["MONDO:0006456", "DOID:3275", "orphanet:99867", "EFO:1000581", "UMLS:C0040100", "MESH:D013945", "MEDDRA:10043670", "MEDDRA:10043675", "NCIT:C3411", "SNOMEDCT:1187428006", "SNOMEDCT:128856005", "SNOMEDCT:444231005", "medgen:52743", "icd11.foundation:33869057", "HP:0100522"], "information_content": 74.5}
{"id": "MONDO:0007699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hashimoto thyroiditis", "equivalent_identifiers": ["MONDO:0007699", "DOID:7188", "OMIM:140300", "EFO:0003779", "UMLS:C0677607", "UMLS:C3887534", "MESH:D050031", "MEDDRA:10008992", "MEDDRA:10019166", "MEDDRA:10019167", "MEDDRA:10025276", "NCIT:C27191", "SNOMEDCT:21983002", "medgen:151769", "icd11.foundation:972507934", "ICD10:E06.3", "HP:0000872"], "information_content": 84.8}
{"id": "MONDO:0032834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 86", "equivalent_identifiers": ["MONDO:0032834", "DOID:0112143", "OMIM:618613", "UMLS:C5231428", "medgen:1684789"], "information_content": 100.0}
{"id": "HP:0025158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperautofluorescent retinal lesion", "equivalent_identifiers": ["HP:0025158", "UMLS:C4476623", "UMLS:C5936774"], "information_content": 95.4}
{"id": "MONDO:0045051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical cataract", "equivalent_identifiers": ["MONDO:0045051", "UMLS:C0271160", "MEDDRA:10007748", "MEDDRA:10011167", "NCIT:C135177", "SNOMEDCT:193576003", "medgen:82868", "icd11.foundation:1118806999", "HP:0100019"], "information_content": 89.4}
{"id": "MONDO:0054593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 18, primary, autosomal dominant", "equivalent_identifiers": ["MONDO:0054593", "DOID:0070295", "OMIM:617520", "UMLS:C4479608", "medgen:1391110"], "information_content": 100.0}
{"id": "MONDO:0032579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "warburg-cinotti syndrome", "equivalent_identifiers": ["MONDO:0032579", "OMIM:618175", "EFO:0010166", "UMLS:C5193019", "medgen:1677486"], "information_content": 100.0}
{"id": "HP:0100689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased corneal thickness", "equivalent_identifiers": ["HP:0100689", "NCIT:C187287", "UMLS:C1096274", "MEDDRA:10054760", "SNOMEDCT:423459005"], "information_content": 88.2}
{"id": "HP:0100720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the ear cartilage", "equivalent_identifiers": ["HP:0100720", "UMLS:C4021986"], "information_content": 100.0}
{"id": "HP:0025616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sterile abscess", "equivalent_identifiers": ["HP:0025616", "UMLS:C0541754", "MEDDRA:10000317", "SNOMEDCT:129124008"], "information_content": 100.0}
{"id": "MONDO:0020717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant wooly hair", "equivalent_identifiers": ["MONDO:0020717", "DOID:0111573", "OMIM:194300", "UMLS:C1860238", "medgen:348571"], "information_content": 100.0}
{"id": "HP:0000499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eyelash morphology", "equivalent_identifiers": ["HP:0000499", "UMLS:C2675111"], "information_content": 73.0}
{"id": "HP:0000534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eyebrow morphology", "equivalent_identifiers": ["HP:0000534", "UMLS:C4011556"], "information_content": 75.3}
{"id": "MONDO:0012708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary lateral sclerosis, adult, 1", "equivalent_identifiers": ["MONDO:0012708", "OMIM:611637", "UMLS:C1968845", "MESH:C566900", "medgen:369357"], "information_content": 100.0}
{"id": "HP:0002464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spastic dysarthria", "equivalent_identifiers": ["HP:0002464", "UMLS:C0454596", "SNOMEDCT:229684006"], "information_content": 100.0}
{"id": "MONDO:0007199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharochalasis, superior", "equivalent_identifiers": ["MONDO:0007199", "OMIM:110000", "UMLS:C1862275", "MESH:C566223", "medgen:349465"], "information_content": 100.0}
{"id": "MONDO:0014512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation", "equivalent_identifiers": ["MONDO:0014512", "DOID:0070061", "OMIM:616158", "orphanet:438216", "UMLS:C4015357"], "information_content": 100.0}
{"id": "MONDO:0014193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 23", "equivalent_identifiers": ["MONDO:0014193", "DOID:0110609", "OMIM:615451", "UMLS:C3809548", "medgen:815878"], "information_content": 100.0}
{"id": "MONDO:0010730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency, X-linked", "equivalent_identifiers": ["MONDO:0010730", "OMIM:312863", "EFO:1001451"], "information_content": 100.0}
{"id": "MONDO:0011301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoparathyroidism type 1B", "equivalent_identifiers": ["MONDO:0011301", "DOID:0080222", "OMIM:603233", "orphanet:94089", "UMLS:C1864100", "MESH:C548075", "medgen:350343", "icd11.foundation:440485628"], "information_content": 100.0}
{"id": "MONDO:0010064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia-corneal dystrophy syndrome", "equivalent_identifiers": ["MONDO:0010064", "OMIM:271320", "orphanet:2572", "UMLS:C1849085", "MESH:C536989", "SNOMEDCT:715465001", "medgen:336493"], "information_content": 100.0}
{"id": "HP:0002503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinocerebellar tract degeneration", "equivalent_identifiers": ["HP:0002503", "UMLS:C1866751"], "information_content": 72.3}
{"id": "MONDO:0032570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 35", "equivalent_identifiers": ["MONDO:0032570", "OMIM:618161", "UMLS:C4748442", "medgen:1648453"], "information_content": 100.0}
{"id": "MONDO:0000494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal fibrosis", "equivalent_identifiers": ["MONDO:0000494", "DOID:0050855", "EFO:1001517", "UMLS:C0151650", "MEDDRA:10016647", "MEDDRA:10023421", "NCIT:C201689", "SNOMEDCT:197660000", "medgen:508798", "HP:0030760"], "information_content": 95.4}
{"id": "HP:0004370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of temperature regulation", "equivalent_identifiers": ["HP:0004370", "UMLS:C0005904", "UMLS:C1832160", "MEDDRA:10005907", "MESH:D001832"], "information_content": 79.6}
{"id": "MONDO:0014990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uncombable hair syndrome 3", "equivalent_identifiers": ["MONDO:0014990", "OMIM:617252", "UMLS:C4310648", "medgen:934615"], "information_content": 100.0}
{"id": "HP:0002235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pili canaliculi", "equivalent_identifiers": ["HP:0002235", "UMLS:C1860608"], "information_content": 100.0}
{"id": "MONDO:0012023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 49", "equivalent_identifiers": ["MONDO:0012023", "DOID:0110572", "OMIM:608372", "UMLS:C1842136", "MESH:C564250", "medgen:331222"], "information_content": 100.0}
{"id": "MONDO:0030433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, type 2FF", "equivalent_identifiers": ["MONDO:0030433", "OMIM:619519", "UMLS:C5561981", "medgen:1794191"], "information_content": 100.0}
{"id": "HP:0033466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weak grip", "equivalent_identifiers": ["HP:0033466", "UMLS:C2126089"], "information_content": 100.0}
{"id": "HP:0009005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weakness of the intrinsic hand muscles", "equivalent_identifiers": ["HP:0009005", "UMLS:C1834536"], "information_content": 100.0}
{"id": "MONDO:0011051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal short-limb skeletal dysplasia, Al Gazali type", "equivalent_identifiers": ["MONDO:0011051", "OMIM:601356", "orphanet:646136", "UMLS:C1832435", "MESH:C537598", "medgen:330467"], "information_content": 100.0}
{"id": "HP:0005720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all metacarpals", "equivalent_identifiers": ["HP:0005720", "UMLS:C4025149"], "information_content": 100.0}
{"id": "HP:0011910", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all phalanges of fingers", "equivalent_identifiers": ["HP:0011910", "UMLS:C4023133"], "information_content": 100.0}
{"id": "MONDO:0008425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omphalocele syndrome, Shprintzen-Goldberg type", "equivalent_identifiers": ["MONDO:0008425", "OMIM:182210", "orphanet:3164", "UMLS:C1866958", "MESH:C537329", "SNOMEDCT:716230005", "medgen:356653"], "information_content": 100.0}
{"id": "HP:0000153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the mouth", "equivalent_identifiers": ["HP:0000153", "UMLS:C0026633", "MEDDRA:10010549", "MEDDRA:10010580", "MEDDRA:10061070", "SNOMEDCT:128334002", "MESH:D009056"], "information_content": 53.6}
{"id": "HP:0009555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small pharynx", "equivalent_identifiers": ["HP:0009555", "UMLS:C4024295", "UMLS:C4280396", "UMLS:C4280397", "UMLS:C4280398", "UMLS:C4280399", "UMLS:C4280400"], "information_content": 95.4}
{"id": "HP:0005956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anteroposteriorly shortened larynx", "equivalent_identifiers": ["HP:0005956", "UMLS:C3805994"], "information_content": 100.0}
{"id": "MONDO:0958192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycine encephalopathy 2", "equivalent_identifiers": ["MONDO:0958192", "DOID:0061001", "OMIM:620398", "UMLS:C5830559", "medgen:1841195"], "information_content": 100.0}
{"id": "MONDO:0009212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor X deficiency", "equivalent_identifiers": ["MONDO:0009212", "DOID:2222", "OMIM:227600", "orphanet:328", "UMLS:C0272327", "NCIT:C98940", "SNOMEDCT:37350004", "medgen:543976", "icd11.foundation:1886781445"], "information_content": 100.0}
{"id": "MONDO:0013404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", "equivalent_identifiers": ["MONDO:0013404", "DOID:0111039", "OMIM:613752", "orphanet:88618", "UMLS:C3151058", "UMLS:C4510276", "SNOMEDCT:724039002", "SNOMEDCT:724040000", "medgen:462408"], "information_content": 100.0}
{"id": "HP:6000750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased tissue S-adenosylhomocysteine hydrolase activity", "equivalent_identifiers": ["HP:6000750", "UMLS:C5937478"], "information_content": 100.0}
{"id": "HP:0032234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating creatine kinase MM isoform", "equivalent_identifiers": ["HP:0032234", "UMLS:C5139213"], "information_content": 100.0}
{"id": "HP:0031143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased hepatic echogenicity", "equivalent_identifiers": ["HP:0031143", "UMLS:C4477002"], "information_content": 100.0}
{"id": "MONDO:0011518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wiedemann-Steiner syndrome", "equivalent_identifiers": ["MONDO:0011518", "OMIM:605130", "orphanet:319182", "UMLS:C1854630", "UMLS:C2931294", "MESH:C536704", "MESH:C565358", "SNOMEDCT:763618001", "medgen:340266"], "information_content": 100.0}
{"id": "HP:0031623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brow ptosis", "equivalent_identifiers": ["HP:0031623", "UMLS:C0423122", "MEDDRA:10059001", "SNOMEDCT:246813002"], "information_content": 100.0}
{"id": "HP:0011298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent digit pad", "equivalent_identifiers": ["HP:0011298", "UMLS:C4023424"], "information_content": 95.4}
{"id": "HP:0009697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the distal interphalangeal joint of the fingers", "equivalent_identifiers": ["HP:0009697", "UMLS:C4024230"], "information_content": 89.4}
{"id": "MONDO:0007693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hairy elbows", "equivalent_identifiers": ["MONDO:0007693", "OMIM:139600", "orphanet:2220", "UMLS:C4025295", "MESH:C535618", "MEDDRA:10068636", "medgen:870835", "HP:0004780"], "information_content": 100.0}
{"id": "HP:0004554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hypertrichosis", "equivalent_identifiers": ["HP:0004554", "UMLS:C3277940"], "information_content": 100.0}
{"id": "HP:0007933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad lateral eyebrow", "equivalent_identifiers": ["HP:0007933", "UMLS:C1837733"], "information_content": 100.0}
{"id": "MONDO:0014787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome", "equivalent_identifiers": ["MONDO:0014787", "OMIM:616819", "orphanet:466688", "UMLS:C4225193", "SNOMEDCT:1208727002", "medgen:902346"], "information_content": 100.0}
{"id": "MONDO:0012369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "systemic lupus erythematosus, susceptibility to, 6", "equivalent_identifiers": ["MONDO:0012369", "OMIM:609939", "UMLS:C1835919", "medgen:332086"], "information_content": 100.0}
{"id": "HP:0025300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malar rash", "equivalent_identifiers": ["HP:0025300", "NCIT:C117106", "UMLS:C0277942", "MEDDRA:10067982", "MEDDRA:10067983", "SNOMEDCT:30704002", "MESH:C000721270"], "information_content": 100.0}
{"id": "HP:0012211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal physiology", "equivalent_identifiers": ["HP:0012211", "UMLS:C0151746", "MEDDRA:10013902", "MEDDRA:10017473", "MEDDRA:10023417", "MEDDRA:10023422", "MEDDRA:10038451", "SNOMEDCT:39539005"], "information_content": 65.6}
{"id": "MONDO:0005904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pericarditis", "equivalent_identifiers": ["MONDO:0005904", "DOID:1787", "EFO:0007427", "UMLS:C0031046", "MESH:D010493", "MEDDRA:10034484", "MEDDRA:10034495", "NCIT:C34915", "SNOMEDCT:3238004", "medgen:18377", "icd11.foundation:1296696944", "HP:0001701"], "information_content": 84.2}
{"id": "MONDO:0007656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gerstmann-Straussler-Scheinker syndrome", "equivalent_identifiers": ["MONDO:0007656", "DOID:4249", "OMIM:137440", "orphanet:356", "UMLS:C0017495", "UMLS:C2931022", "UMLS:C3805618", "MESH:C535800", "MESH:D016098", "MEDDRA:10072075", "MEDDRA:10072102", "NCIT:C84727", "SNOMEDCT:67155006", "medgen:4886", "icd11.foundation:406818835", "ICD10:A81.82", "ICD9:046.71"], "information_content": 100.0}
{"id": "MONDO:0957307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "woolly hair-skin fragility syndrome", "equivalent_identifiers": ["MONDO:0957307", "OMIM:620415", "UMLS:C1843292", "medgen:375148"], "information_content": 100.0}
{"id": "HP:0100792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acantholysis", "equivalent_identifiers": ["HP:0100792", "NCIT:C54252", "UMLS:C0000887", "UMLS:C0241128", "MEDDRA:10058820", "SNOMEDCT:43327007", "SNOMEDCT:441837004", "MESH:D000051"], "information_content": 86.3}
{"id": "MONDO:0007427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness with anhidrotic ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0007427", "OMIM:125050", "UMLS:C1852279", "MESH:C565119", "medgen:342202"], "information_content": 100.0}
{"id": "MONDO:0007508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rapp-Hodgkin syndrome", "equivalent_identifiers": ["MONDO:0007508", "DOID:0060330", "OMIM:129400", "UMLS:C1706004", "UMLS:C1785148", "MESH:C535289", "SNOMEDCT:7731005", "medgen:315656", "icd11.foundation:1455333054", "HP:0007476"], "information_content": 100.0}
{"id": "MONDO:0012731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "elliptocytosis 1", "equivalent_identifiers": ["MONDO:0012731", "OMIM:611804", "UMLS:C2678497", "MESH:C567520", "medgen:394841"], "information_content": 100.0}
{"id": "MONDO:0957263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8", "equivalent_identifiers": ["MONDO:0957263", "OMIM:620367", "UMLS:C5830496", "medgen:1841132"], "information_content": 100.0}
{"id": "MONDO:0018835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular regenerative hyperplasia of the liver", "equivalent_identifiers": ["MONDO:0018835", "orphanet:48372", "UMLS:C1318485", "UMLS:C4520976", "UMLS:C5779783", "SNOMEDCT:65860006", "SNOMEDCT:715140008", "SNOMEDCT:737205008", "medgen:1830387", "icd11.foundation:1642018758", "HP:0011954"], "information_content": 100.0}
{"id": "MONDO:0800029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial lung disease 2", "equivalent_identifiers": ["MONDO:0800029", "DOID:0050156", "DOID:0060971", "OMIM:178500", "orphanet:2032", "EFO:0000768", "UMLS:C1800706", "UMLS:C4721507", "UMLS:C4721508", "UMLS:C4721509", "UMLS:C4721952", "UMLS:C5561926", "MESH:D054990", "MEDDRA:10001892", "MEDDRA:10011495", "MEDDRA:10016640", "MEDDRA:10016641", "MEDDRA:10021240", "NCIT:C35715", "NCIT:C35716", "SNOMEDCT:196125002", "SNOMEDCT:237121003", "SNOMEDCT:426437004", "SNOMEDCT:700250006", "medgen:1794136", "ICD10:J84.112", "ICD9:516.31", "HP:0031950"], "information_content": 100.0}
{"id": "HP:0031246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dry cough", "equivalent_identifiers": ["HP:0031246", "NCIT:C173623", "UMLS:C0850149", "MEDDRA:10011229", "MEDDRA:10013773", "SNOMEDCT:11833005"], "information_content": 100.0}
{"id": "HP:0031996", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inspiratory crackles", "equivalent_identifiers": ["HP:0031996", "UMLS:C0577961", "SNOMEDCT:75252003"], "information_content": 92.8}
{"id": "MONDO:0007996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with corectopia", "equivalent_identifiers": ["MONDO:0007996", "OMIM:156900", "UMLS:C1834918", "MESH:C563581", "medgen:320474"], "information_content": 100.0}
{"id": "MONDO:0032934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "genitourinary and/or brain malformation syndrome", "equivalent_identifiers": ["MONDO:0032934", "OMIM:618820", "UMLS:C5394158", "medgen:1720440"], "information_content": 100.0}
{"id": "MONDO:0019795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acalvaria", "equivalent_identifiers": ["MONDO:0019795", "orphanet:945", "UMLS:C0702169", "UMLS:C2930936", "MESH:C535570", "SNOMEDCT:203923004", "medgen:418951", "icd11.foundation:1719021696", "HP:0030716"], "information_content": 100.0}
{"id": "HP:0000356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the outer ear", "equivalent_identifiers": ["HP:0000356", "UMLS:C1846460"], "information_content": 64.6}
{"id": "MONDO:0015834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "didelphys uterus", "equivalent_identifiers": ["MONDO:0015834", "orphanet:180086", "UMLS:C0266393", "MESH:D000093642", "MEDDRA:10012770", "SNOMEDCT:15545001", "medgen:82740", "HP:0003762"], "information_content": 92.8}
{"id": "HP:0100779", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urogenital sinus anomaly", "equivalent_identifiers": ["HP:0100779", "UMLS:C4021972"], "information_content": 100.0}
{"id": "MONDO:0700295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical", "equivalent_identifiers": ["MONDO:0700295", "OMIM:169500"], "information_content": 100.0}
{"id": "HP:0007480", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased sweating due to autonomic dysfunction", "equivalent_identifiers": ["HP:0007480", "UMLS:C1868527"], "information_content": 100.0}
{"id": "HP:0007262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symmetric peripheral demyelination", "equivalent_identifiers": ["HP:0007262", "UMLS:C4024914"], "information_content": 95.4}
{"id": "HP:0008652", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autonomic erectile dysfunction", "equivalent_identifiers": ["HP:0008652", "UMLS:C1868524"], "information_content": 100.0}
{"id": "HP:0005341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autonomic bladder dysfunction", "equivalent_identifiers": ["HP:0005341", "UMLS:C4025212"], "information_content": 100.0}
{"id": "HP:0004926", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orthostatic hypotension due to autonomic dysfunction", "equivalent_identifiers": ["HP:0004926", "UMLS:C1868528"], "information_content": 100.0}
{"id": "MONDO:0032930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with poor growth and with or without seizures or ataxia", "equivalent_identifiers": ["MONDO:0032930", "OMIM:618808", "UMLS:C5394135", "medgen:1711370"], "information_content": 100.0}
{"id": "MONDO:0010735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kennedy disease", "equivalent_identifiers": ["MONDO:0010735", "DOID:0060161", "OMIM:313200", "orphanet:481", "UMLS:C1839259", "UMLS:C2931395", "MESH:C537017", "MESH:D055534", "MEDDRA:10023331", "MEDDRA:10068600", "NCIT:C85233", "medgen:333282"], "information_content": 100.0}
{"id": "HP:0000144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subfertility", "equivalent_identifiers": ["HP:0000144", "UMLS:C0520927", "UMLS:C0729353", "MEDDRA:10042391", "MEDDRA:10049232", "SNOMEDCT:17276009"], "information_content": 63.5}
{"id": "MONDO:0013988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 3", "equivalent_identifiers": ["MONDO:0013988", "OMIM:614954", "UMLS:C3554194", "medgen:767108"], "information_content": 100.0}
{"id": "MONDO:0007349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome 1", "equivalent_identifiers": ["MONDO:0007349", "DOID:0090062", "OMIM:120100", "UMLS:C4551895", "SNOMEDCT:238687000", "medgen:1647324"], "information_content": 100.0}
{"id": "MONDO:0008943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 2", "equivalent_identifiers": ["MONDO:0008943", "DOID:0080061", "OMIM:213200", "orphanet:1170", "UMLS:C1859298", "MESH:C565865", "SNOMEDCT:715369006", "medgen:349134"], "information_content": 100.0}
{"id": "MONDO:0014206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe early-onset pulmonary alveolar proteinosis due to MARS deficiency", "equivalent_identifiers": ["MONDO:0014206", "OMIM:615486", "orphanet:440427", "UMLS:C4225400", "SNOMEDCT:1228876007", "medgen:895551"], "information_content": 100.0}
{"id": "MONDO:0013982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant", "equivalent_identifiers": ["MONDO:0013982", "DOID:0111653", "OMIM:614940", "UMLS:C3541517", "medgen:762105"], "information_content": 100.0}
{"id": "MONDO:0010585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked hypohidrotic ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0010585", "DOID:0111664", "OMIM:305100", "orphanet:181", "UMLS:C0162359", "MESH:D053358", "MEDDRA:10072592", "SNOMEDCT:239007005", "medgen:57890", "icd11.foundation:941793098", "HP:0007607"], "information_content": 100.0}
{"id": "MONDO:0013497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Okt4 epitope deficiency", "equivalent_identifiers": ["MONDO:0013497", "OMIM:613949", "UMLS:C3151379", "medgen:462729"], "information_content": 100.0}
{"id": "HP:0002843", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal T cell morphology", "equivalent_identifiers": ["HP:0002843", "UMLS:C1855752"], "information_content": 62.2}
{"id": "MONDO:0009019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hereditary endothelial dystrophy of cornea", "equivalent_identifiers": ["MONDO:0009019", "DOID:0060649", "OMIM:217700", "orphanet:293603", "UMLS:C1857569", "MESH:C536439", "SNOMEDCT:417395001", "medgen:387857"], "information_content": 100.0}
{"id": "HP:0011487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased corneal thickness", "equivalent_identifiers": ["HP:0011487", "UMLS:C3810451"], "information_content": 95.4}
{"id": "MONDO:0013423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency due to MASP-2 deficiency", "equivalent_identifiers": ["MONDO:0013423", "OMIM:613791", "orphanet:331187", "UMLS:C3151085", "MESH:C565360", "medgen:462435"], "information_content": 100.0}
{"id": "MONDO:0003832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement deficiency", "equivalent_identifiers": ["MONDO:0003832", "DOID:626", "orphanet:459345", "UMLS:C0272242", "UMLS:C5197806", "UMLS:C5891164", "MESH:D000081208", "MEDDRA:10075551", "NCIT:C4691", "SNOMEDCT:24743004", "medgen:82898", "HP:0004431"], "information_content": 75.8}
{"id": "MONDO:0014791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Luscan-Lumish syndrome", "equivalent_identifiers": ["MONDO:0014791", "OMIM:616831", "orphanet:597738", "UMLS:C4085873", "SNOMEDCT:1300117002", "medgen:898669"], "information_content": 100.0}
{"id": "MONDO:0009540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic mucocutaneous candidiasis due to lymphokine deficiency", "equivalent_identifiers": ["MONDO:0009540", "OMIM:247650", "UMLS:C1855471", "MESH:C565428", "medgen:340878"], "information_content": 100.0}
{"id": "MONDO:0013983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive", "equivalent_identifiers": ["MONDO:0013983", "DOID:0111654", "OMIM:614941", "UMLS:C3539920", "medgen:761671"], "information_content": 100.0}
{"id": "HP:0000607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periorbital wrinkles", "equivalent_identifiers": ["HP:0000607", "UMLS:C1844605"], "information_content": 100.0}
{"id": "MONDO:0015005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, early-onset, vitamin B6-dependent", "equivalent_identifiers": ["MONDO:0015005", "DOID:0080769", "OMIM:617290", "UMLS:C4310632", "medgen:934599"], "information_content": 100.0}
{"id": "MONDO:0013422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type I complement component 8 deficiency", "equivalent_identifiers": ["MONDO:0013422", "DOID:0060301", "OMIM:613790", "UMLS:C3151081", "medgen:462431"], "information_content": 100.0}
{"id": "HP:0004434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement C8 concentration", "equivalent_identifiers": ["HP:0004434", "UMLS:C3151082"], "information_content": 100.0}
{"id": "OMIM:203760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alpha-2-Deficient Collagen Disease", "equivalent_identifiers": ["OMIM:203760", "UMLS:C1859850", "MESH:C565963"]}
{"id": "MONDO:0015004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystonia 28", "equivalent_identifiers": ["MONDO:0015004", "DOID:0060936", "OMIM:617284", "orphanet:589618", "EFO:0009301", "UMLS:C4310633", "SNOMEDCT:1281844004", "medgen:934600", "ICD10:G24.8"], "information_content": 100.0}
{"id": "MONDO:0957386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities", "equivalent_identifiers": ["MONDO:0957386", "DOID:0081387", "OMIM:620428", "UMLS:C5830596", "medgen:1841232"], "information_content": 100.0}
{"id": "MONDO:0010959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van den Ende-Gupta syndrome", "equivalent_identifiers": ["MONDO:0010959", "DOID:0111699", "OMIM:600920", "orphanet:2460", "UMLS:C1833136", "MESH:C535909", "SNOMEDCT:719845008", "medgen:322127", "icd11.foundation:1740735985"], "information_content": 100.0}
{"id": "HP:0010493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long metacarpals", "equivalent_identifiers": ["HP:0010493", "UMLS:C4021260"], "information_content": 92.8}
{"id": "HP:0001215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camptodactyly of 2nd-5th fingers", "equivalent_identifiers": ["HP:0001215", "UMLS:C1859368"], "information_content": 95.4}
{"id": "HP:0005033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal ulnar hypoplasia", "equivalent_identifiers": ["HP:0005033", "UMLS:C1833145"], "information_content": 100.0}
{"id": "HP:6000506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radioulnar subluxation", "equivalent_identifiers": ["HP:6000506", "UMLS:C5937271"], "information_content": 100.0}
{"id": "MONDO:0014210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-hypotonia-spasticity-sleep disorder syndrome", "equivalent_identifiers": ["MONDO:0014210", "DOID:0081202", "OMIM:615493", "orphanet:356996", "UMLS:C3809672", "medgen:816002"], "information_content": 100.0}
{"id": "MONDO:0007080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid-remediable aldosteronism", "equivalent_identifiers": ["MONDO:0007080", "DOID:14080", "OMIM:103900", "orphanet:403", "UMLS:C3838731", "MESH:C563177", "NCIT:C123248", "NCIT:C127161", "SNOMEDCT:703232003", "medgen:824577", "ICD10:E26.02", "ICD9:255.11"], "information_content": 100.0}
{"id": "HP:0008221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal hyperplasia", "equivalent_identifiers": ["HP:0008221", "NCIT:C35408", "UMLS:C1621895", "MEDDRA:10020719", "SNOMEDCT:419920004"], "information_content": 84.8}
{"id": "MONDO:0009033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "temtamy syndrome", "equivalent_identifiers": ["MONDO:0009033", "DOID:0111621", "OMIM:218340", "orphanet:1777", "UMLS:C1857512", "MESH:C536959", "NCIT:C148371", "SNOMEDCT:719947004", "medgen:347474"], "information_content": 100.0}
{"id": "HP:0001885", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 2nd toe", "equivalent_identifiers": ["HP:0001885", "UMLS:C4021769"], "information_content": 100.0}
{"id": "MONDO:0957294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9", "equivalent_identifiers": ["MONDO:0957294", "OMIM:620400", "UMLS:C5830560", "medgen:1841196"], "information_content": 100.0}
{"id": "DOID:0050430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia type 2A", "equivalent_identifiers": ["DOID:0050430", "DOID:0050547", "OMIM:155240", "OMIM:171400", "EFO:1001957", "UMLS:C0025268", "UMLS:C1833921", "MESH:C536911", "MESH:D018813", "MEDDRA:10056427", "MEDDRA:10073148", "MEDDRA:10073153", "MEDDRA:10073154", "NCIT:C3226", "NCIT:C46099", "SNOMEDCT:721188000", "ICD10:E31.22", "ICD9:258.02"], "information_content": 88.2}
{"id": "HP:0032346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous lichen amyloidosis", "equivalent_identifiers": ["HP:0032346", "UMLS:C3805845"], "information_content": 100.0}
{"id": "MONDO:0006120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C-cell hyperplasia", "equivalent_identifiers": ["MONDO:0006120", "EFO:1000147", "UMLS:C0342190", "MEDDRA:10070568", "MEDDRA:10070569", "MEDDRA:10070570", "NCIT:C46100", "SNOMEDCT:237552009", "medgen:90975", "HP:0011781"], "information_content": 87.2}
{"id": "HP:0100735", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertensive crisis", "equivalent_identifiers": ["HP:0100735", "NCIT:C3122", "UMLS:C0020546", "MEDDRA:10011395", "MEDDRA:10020802", "SNOMEDCT:706882009", "MESH:D000096003"], "information_content": 90.9}
{"id": "HP:0003639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary epinephrine level", "equivalent_identifiers": ["HP:0003639", "UMLS:C1868393"], "information_content": 95.4}
{"id": "MONDO:0015277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medullary thyroid gland carcinoma", "equivalent_identifiers": ["MONDO:0015277", "DOID:3973", "orphanet:1332", "UMLS:C0238462", "UMLS:C0334379", "MESH:C536914", "MEDDRA:10027101", "MEDDRA:10027105", "NCIT:C3879", "NCIT:C4193", "SNOMEDCT:128916007", "SNOMEDCT:1332275004", "SNOMEDCT:255032005", "medgen:66772", "icd11.foundation:578519098", "HP:0002865"], "information_content": 76.0}
{"id": "MONDO:0023655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 14b, autosomal recessive", "equivalent_identifiers": ["MONDO:0023655", "OMIM:619281", "UMLS:C5543301", "medgen:1787468"], "information_content": 100.0}
{"id": "HP:0004783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duodenal polyposis", "equivalent_identifiers": ["HP:0004783", "UMLS:C0578477", "SNOMEDCT:301797007"], "information_content": 100.0}
{"id": "MONDO:0005166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoma", "equivalent_identifiers": ["MONDO:0005166", "EFO:0002423", "UMLS:C0029440", "MESH:D010016", "MEDDRA:10031249", "NCIT:C3296", "SNOMEDCT:1156874003", "SNOMEDCT:302858007", "SNOMEDCT:83612000", "medgen:18220", "HP:0100246"], "information_content": 86.3}
{"id": "MONDO:0043251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontoma", "equivalent_identifiers": ["MONDO:0043251", "UMLS:C0028882", "MESH:D009810", "MEDDRA:10083400", "NCIT:C3287", "SNOMEDCT:1156647001", "SNOMEDCT:79074005", "medgen:45181", "HP:0011068"], "information_content": 90.9}
{"id": "MONDO:0003924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal adenoma", "equivalent_identifiers": ["MONDO:0003924", "DOID:0050891", "DOID:656", "EFO:0003104", "UMLS:C0206667", "MESH:D018246", "MEDDRA:10001232", "MEDDRA:10001323", "NCIT:C9003", "SNOMEDCT:1156661006", "SNOMEDCT:255036008", "SNOMEDCT:302826002", "medgen:61654", "HP:0008256"], "information_content": 78.5}
{"id": "HP:0007649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital hypertrophy of retinal pigment epithelium", "equivalent_identifiers": ["HP:0007649", "NCIT:C174545", "UMLS:C0339555", "MEDDRA:10063667", "SNOMEDCT:232074003"], "information_content": 90.9}
{"id": "MONDO:0005075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid gland papillary carcinoma", "equivalent_identifiers": ["MONDO:0005075", "DOID:3969", "EFO:0000641", "UMLS:C0238463", "MESH:D000077273", "MEDDRA:10007461", "MEDDRA:10033701", "MEDDRA:10043758", "NCIT:C4035", "SNOMEDCT:1336196002", "SNOMEDCT:255029007", "medgen:66773", "icd11:2D10.1", "HP:0002895"], "information_content": 72.2}
{"id": "MONDO:0006639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal cortex carcinoma", "equivalent_identifiers": ["MONDO:0006639", "DOID:3948", "DOID:3959", "DOID:660", "orphanet:1501", "EFO:1000796", "UMLS:C0206686", "MEDDRA:10001326", "MEDDRA:10001327", "MEDDRA:10001388", "MEDDRA:10007285", "MEDDRA:10055076", "NCIT:C9325", "SNOMEDCT:2227007", "SNOMEDCT:255035007", "medgen:104917", "ICD10:C74.0", "HP:0006744"], "information_content": 75.3}
{"id": "HP:0006722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small intestine carcinoid", "equivalent_identifiers": ["HP:0006722", "UMLS:C1868072"], "information_content": 100.0}
{"id": "MONDO:0032935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic limb shortening with dysmorphic features", "equivalent_identifiers": ["MONDO:0032935", "OMIM:618821", "UMLS:C5394173", "medgen:1720321"], "information_content": 100.0}
{"id": "MONDO:0007672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomuvenous malformation", "equivalent_identifiers": ["MONDO:0007672", "DOID:7996", "OMIM:138000", "orphanet:83454", "UMLS:C1333987", "UMLS:C1841984", "MESH:C536827", "NCIT:C5350", "SNOMEDCT:715644000", "medgen:374834", "icd11.foundation:2095305475"], "information_content": 100.0}
{"id": "MONDO:0976133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, myofibrillar, 13, with rimmed vacuoles", "equivalent_identifiers": ["MONDO:0976133", "DOID:0051045", "OMIM:621078", "UMLS:C5975603"], "information_content": 100.0}
{"id": "HP:0033202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachioradialis hyporeflexia", "equivalent_identifiers": ["HP:0033202", "UMLS:C5421679"], "information_content": 100.0}
{"id": "HP:0033201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biceps hyporeflexia", "equivalent_identifiers": ["HP:0033201", "UMLS:C0238765"], "information_content": 100.0}
{"id": "HP:6000490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired heel-walking ability", "equivalent_identifiers": ["HP:6000490", "UMLS:C5937257"], "information_content": 100.0}
{"id": "HP:0008997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal muscle weakness in upper limbs", "equivalent_identifiers": ["HP:0008997", "UMLS:C1866012"], "information_content": 95.4}
{"id": "HP:0033200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triceps hyporeflexia", "equivalent_identifiers": ["HP:0033200", "UMLS:C0241474"], "information_content": 100.0}
{"id": "MONDO:0957262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopetrosis, autosomal recessive 9", "equivalent_identifiers": ["MONDO:0957262", "OMIM:620366", "UMLS:C5830487", "medgen:1841123"], "information_content": 100.0}
{"id": "MONDO:0030006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 40", "equivalent_identifiers": ["MONDO:0030006", "DOID:0112117", "OMIM:618835", "orphanet:570491", "UMLS:C5394232", "SNOMEDCT:1197430005", "medgen:1714731"], "information_content": 100.0}
{"id": "MONDO:0957268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypersulfaturia", "equivalent_identifiers": ["MONDO:0957268", "OMIM:620372", "UMLS:C5830511", "medgen:1841147"], "information_content": 100.0}
{"id": "HP:0006649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Costochondral pain", "equivalent_identifiers": ["HP:0006649", "UMLS:C4021587"], "information_content": 100.0}
{"id": "HP:0012613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary sulfate", "equivalent_identifiers": ["HP:0012613", "UMLS:C4022820"], "information_content": 95.4}
{"id": "HP:6000854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating sulfate concentration", "equivalent_identifiers": ["HP:6000854", "UMLS:C5937569"], "information_content": 100.0}
{"id": "MONDO:0014786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA nephropathy, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0014786", "OMIM:616818", "UMLS:C4225194", "medgen:897340"], "information_content": 100.0}
{"id": "MONDO:0005342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA Nephropathy", "equivalent_identifiers": ["MONDO:0005342", "DOID:2986", "orphanet:34145", "EFO:0004194", "UMLS:C0017661", "UMLS:C3161650", "UMLS:C4025827", "MESH:D005922", "MEDDRA:10018369", "MEDDRA:10021263", "MEDDRA:10069341", "NCIT:C34643", "NCIT:C35280", "SNOMEDCT:236407003", "SNOMEDCT:68779003", "medgen:9032", "HP:0000794"], "information_content": 89.4}
{"id": "MONDO:0009517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Donohue syndrome", "equivalent_identifiers": ["MONDO:0009517", "DOID:0050470", "OMIM:246200", "orphanet:508", "UMLS:C0265344", "UMLS:C0271689", "MESH:C562709", "MESH:D056731", "MEDDRA:10081896", "MEDDRA:10081903", "NCIT:C84676", "SNOMEDCT:10680005", "SNOMEDCT:111307005", "medgen:82708"], "information_content": 100.0}
{"id": "HP:0008887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adipose tissue loss", "equivalent_identifiers": ["HP:0008887", "UMLS:C4024615"], "information_content": 84.8}
{"id": "HP:0004405", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent nipples", "equivalent_identifiers": ["HP:0004405", "UMLS:C1855513"], "information_content": 100.0}
{"id": "HP:0000065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Labial hypertrophy", "equivalent_identifiers": ["HP:0000065", "UMLS:C0156395", "UMLS:C0404531", "MEDDRA:10020889", "MEDDRA:10023527", "SNOMEDCT:16924008", "SNOMEDCT:3751000119101"], "information_content": 90.9}
{"id": "HP:0030796", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased C-peptide level", "equivalent_identifiers": ["HP:0030796", "UMLS:C4280763"], "information_content": 100.0}
{"id": "HP:0004510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic islet-cell hyperplasia", "equivalent_identifiers": ["HP:0004510", "UMLS:C0597167", "MEDDRA:10052031", "MEDDRA:10052035"], "information_content": 88.2}
{"id": "HP:0004428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elfin facies", "equivalent_identifiers": ["HP:0004428", "UMLS:C0332606", "SNOMEDCT:69288002"], "information_content": 100.0}
{"id": "MONDO:0013507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3", "equivalent_identifiers": ["MONDO:0013507", "DOID:0070194", "OMIM:613960", "UMLS:C3151409", "medgen:462759"], "information_content": 100.0}
{"id": "HP:0011127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perioral eczema", "equivalent_identifiers": ["HP:0011127", "UMLS:C1396126"], "information_content": 100.0}
{"id": "MONDO:0013993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 7", "equivalent_identifiers": ["MONDO:0013993", "DOID:0060276", "OMIM:614969", "orphanet:284339", "UMLS:C3554226", "SNOMEDCT:718605009", "medgen:767140"], "information_content": 100.0}
{"id": "MONDO:0008872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic osteodysplastic primordial dwarfism type II", "equivalent_identifiers": ["MONDO:0008872", "DOID:0060609", "OMIM:210720", "orphanet:2637", "UMLS:C0432246", "MESH:C565898", "SNOMEDCT:1208348002", "SNOMEDCT:254103003", "medgen:96587"], "information_content": 100.0}
{"id": "HP:0007402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines", "equivalent_identifiers": ["HP:0007402", "UMLS:C4024886"], "information_content": 100.0}
{"id": "HP:0009193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpal pseudoepiphysis", "equivalent_identifiers": ["HP:0009193", "UMLS:C1860253"], "information_content": 88.2}
{"id": "HP:0010583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ivory epiphyses", "equivalent_identifiers": ["HP:0010583", "UMLS:C1856911"], "information_content": 74.6}
{"id": "MONDO:0014991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 10", "equivalent_identifiers": ["MONDO:0014991", "DOID:0070008", "OMIM:617253", "UMLS:C4310647", "medgen:934614"], "information_content": 100.0}
{"id": "MONDO:0032569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated growth hormone deficiency, type 5", "equivalent_identifiers": ["MONDO:0032569", "DOID:0061016", "OMIM:618160", "UMLS:C4748435", "medgen:1648500"], "information_content": 100.0}
{"id": "MONDO:0008385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhiny", "equivalent_identifiers": ["MONDO:0008385", "OMIM:180360", "UMLS:C1867222", "MESH:C566708", "medgen:401188"], "information_content": 100.0}
{"id": "MONDO:0014192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 22", "equivalent_identifiers": ["MONDO:0014192", "DOID:0110597", "OMIM:615444", "UMLS:C3809543", "medgen:815873"], "information_content": 100.0}
{"id": "MONDO:0032831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 13", "equivalent_identifiers": ["MONDO:0032831", "DOID:0112332", "OMIM:618606", "orphanet:613267", "EFO:0010636", "UMLS:C5231425", "medgen:1684708"], "information_content": 100.0}
{"id": "MONDO:0958180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bradyopsia 1", "equivalent_identifiers": ["MONDO:0958180", "DOID:0070363", "OMIM:608415", "UMLS:C5829874", "medgen:1840510"], "information_content": 100.0}
{"id": "HP:0030512", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Difficulty adjusting to changes in luminance", "equivalent_identifiers": ["HP:0030512", "UMLS:C4072994"], "information_content": 92.8}
{"id": "MONDO:0012033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bradyopsia", "equivalent_identifiers": ["MONDO:0012033", "DOID:0050335", "OMIM.PS:608415", "orphanet:75374", "UMLS:C1842073", "MESH:C564243", "SNOMEDCT:711163009", "medgen:331206", "icd11.foundation:1497247503", "HP:0030511"], "information_content": 92.8}
{"id": "MONDO:0011671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huntington disease-like 2", "equivalent_identifiers": ["MONDO:0011671", "DOID:0090104", "OMIM:606438", "orphanet:98934", "UMLS:C1847987", "MESH:C564708", "SNOMEDCT:721228006", "medgen:341120"], "information_content": 100.0}
{"id": "HP:0030216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inertia", "equivalent_identifiers": ["HP:0030216", "UMLS:C4022575"], "information_content": 100.0}
{"id": "HP:0007123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcortical dementia", "equivalent_identifiers": ["HP:0007123", "UMLS:C4024935", "SNOMEDCT:762707000"], "information_content": 100.0}
{"id": "MONDO:8000015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anorchia", "equivalent_identifiers": ["MONDO:8000015", "OMIM:273250", "orphanet:983", "UMLS:C0266427", "MESH:C537770", "NCIT:C120200", "SNOMEDCT:53599007", "medgen:78602", "HP:0012870"], "information_content": 100.0}
{"id": "HP:0000812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal internal genitalia", "equivalent_identifiers": ["HP:0000812", "UMLS:C4025824"], "information_content": 56.6}
{"id": "MONDO:0859189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome", "equivalent_identifiers": ["MONDO:0859189", "OMIM:619518", "UMLS:C5561980", "medgen:1794190"], "information_content": 100.0}
{"id": "HP:0033686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitochondrial hypertrophy", "equivalent_identifiers": ["HP:0033686", "UMLS:C5435767"], "information_content": 100.0}
{"id": "HP:0025717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skeletal muscle autophagosome accumulation", "equivalent_identifiers": ["HP:0025717", "UMLS:C5676640"], "information_content": 100.0}
{"id": "MONDO:0011052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelia cleft lip palate hydrocephalus iris coloboma", "equivalent_identifiers": ["MONDO:0011052", "OMIM:601357", "UMLS:C1832434", "MESH:C536713", "medgen:321957"], "information_content": 100.0}
{"id": "HP:0007035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior encephalocele", "equivalent_identifiers": ["HP:0007035", "UMLS:C4024948", "UMLS:C5886784"], "information_content": 88.2}
{"id": "MONDO:0032833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lower urinary tract obstruction, congenital", "equivalent_identifiers": ["MONDO:0032833", "OMIM:618612", "UMLS:C5231427", "medgen:1684849"], "information_content": 100.0}
{"id": "HP:0100515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pollakisuria", "equivalent_identifiers": ["HP:0100515", "NCIT:C26906", "UMLS:C0042023", "UMLS:C4477056", "MEDDRA:10017364", "MEDDRA:10017366", "MEDDRA:10021692", "MEDDRA:10027562", "MEDDRA:10036018", "MEDDRA:10046539", "MEDDRA:10046600", "MEDDRA:10071065", "SNOMEDCT:162116003", "SNOMEDCT:300471006"], "information_content": 75.8}
{"id": "MONDO:0976137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte/zygote/embryo maturation arrest 22", "equivalent_identifiers": ["MONDO:0976137", "OMIM:621093", "UMLS:C5975626"], "information_content": 100.0}
{"id": "HP:0031516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oocyte arrest at metaphase I", "equivalent_identifiers": ["HP:0031516", "UMLS:C4227845"], "information_content": 100.0}
{"id": "HP:0033712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Repeated implantation failure", "equivalent_identifiers": ["HP:0033712", "UMLS:C5539773"], "information_content": 100.0}
{"id": "MONDO:0011338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Omenn syndrome", "equivalent_identifiers": ["MONDO:0011338", "DOID:0060010", "OMIM:603554", "orphanet:39041", "EFO:1001499", "UMLS:C1801959", "UMLS:C2700553", "UMLS:C2931884", "MESH:C538564", "MEDDRA:10068785", "MEDDRA:10069097", "NCIT:C61240", "SNOMEDCT:307650006", "SNOMEDCT:722067005", "medgen:398130", "ICD10:D81.8"], "information_content": 90.9}
{"id": "MONDO:0009863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BH4-deficient hyperphenylalaninemia A", "equivalent_identifiers": ["MONDO:0009863", "DOID:0090106", "OMIM:261640", "orphanet:13", "UMLS:C0878676", "UMLS:C2678415", "MESH:C535325", "MESH:C567493", "NCIT:C138171", "SNOMEDCT:237914002", "medgen:209234"], "information_content": 100.0}
{"id": "HP:0003785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF homovanillic acid concentration", "equivalent_identifiers": ["HP:0003785", "UMLS:C4280803", "UMLS:C5676596"], "information_content": 100.0}
{"id": "HP:0025455", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF 5-hydroxyindolacetic acid concentration", "equivalent_identifiers": ["HP:0025455", "UMLS:C4476788"], "information_content": 100.0}
{"id": "MONDO:0013534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apolipoprotein c-III deficiency", "equivalent_identifiers": ["MONDO:0013534", "DOID:0111370", "OMIM:614028", "UMLS:C3151467", "MESH:C566270", "medgen:462817"], "information_content": 100.0}
{"id": "MONDO:0013087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiectasis with or without elevated sweat chloride 2", "equivalent_identifiers": ["MONDO:0013087", "DOID:0080527", "OMIM:613021", "UMLS:C2751666", "MESH:C567813", "medgen:414437"], "information_content": 100.0}
{"id": "HP:0100501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent bronchiolitis", "equivalent_identifiers": ["HP:0100501", "UMLS:C4015136"], "information_content": 100.0}
{"id": "HP:6000100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpolarized transepithelial nasal potential difference", "equivalent_identifiers": ["HP:6000100", "UMLS:C5936964"], "information_content": 100.0}
{"id": "HP:0012092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of exocrine pancreas physiology", "equivalent_identifiers": ["HP:0012092", "UMLS:C4021103"], "information_content": 81.7}
{"id": "MONDO:0012021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 17, autosomal dominant", "equivalent_identifiers": ["MONDO:0012021", "OMIM:608367", "UMLS:C3888211", "medgen:854818"], "information_content": 100.0}
{"id": "HP:0007819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Presenile cataracts", "equivalent_identifiers": ["HP:0007819", "UMLS:C0154971", "SNOMEDCT:441622000"], "information_content": 100.0}
{"id": "MONDO:0014987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group U", "equivalent_identifiers": ["MONDO:0014987", "DOID:0111085", "OMIM:617247", "UMLS:C4310651", "medgen:934618"], "information_content": 100.0}
{"id": "HP:0012799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral facial palsy", "equivalent_identifiers": ["HP:0012799", "UMLS:C0239516", "UMLS:C0521671", "UMLS:C4022719"], "information_content": 100.0}
{"id": "MONDO:0032578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical dysplasia, complex, with other brain malformations 9", "equivalent_identifiers": ["MONDO:0032578", "OMIM:618174", "UMLS:C4748540", "medgen:1648399"], "information_content": 100.0}
{"id": "MONDO:0008571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blount disease, infantile", "equivalent_identifiers": ["MONDO:0008571", "OMIM:188700", "UMLS:C0220757", "SNOMEDCT:880067009", "medgen:65091"], "information_content": 100.0}
{"id": "HP:0010591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the proximal tibial epiphysis", "equivalent_identifiers": ["HP:0010591", "UMLS:C4023782"], "information_content": 92.8}
{"id": "MONDO:0010129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymic-renal-anal-lung dysplasia", "equivalent_identifiers": ["MONDO:0010129", "OMIM:274265", "orphanet:3326", "UMLS:C1848812", "MESH:C536907", "SNOMEDCT:723555007", "medgen:336425"], "information_content": 100.0}
{"id": "HP:0012300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureteral agenesis", "equivalent_identifiers": ["HP:0012300", "UMLS:C4022959"], "information_content": 100.0}
{"id": "HP:0008631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureteral dysgenesis", "equivalent_identifiers": ["HP:0008631", "UMLS:C4024653"], "information_content": 100.0}
{"id": "MONDO:0014516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly and chorioretinopathy 2", "equivalent_identifiers": ["MONDO:0014516", "DOID:0080106", "OMIM:616171", "UMLS:C4015388", "medgen:863825"], "information_content": 100.0}
{"id": "MONDO:0020756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine, familial hemiplegic, 1", "equivalent_identifiers": ["MONDO:0020756", "DOID:0111181", "OMIM:141500", "UMLS:C1832884", "MESH:C536890", "NCIT:C189277", "SNOMEDCT:1260329005", "medgen:331388"], "information_content": 100.0}
{"id": "HP:0001125", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient unilateral blurring of vision", "equivalent_identifiers": ["HP:0001125", "UMLS:C1865332"], "information_content": 100.0}
{"id": "OMIM:616617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HEIMLER SYNDROME 2", "equivalent_identifiers": ["OMIM:616617", "UMLS:C4225267"]}
{"id": "MONDO:0020523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial parathyroid adenoma", "equivalent_identifiers": ["MONDO:0020523", "OMIM:145000", "UMLS:C1840402", "UMLS:C1840403", "UMLS:C4551961", "MESH:C564166", "MEDDRA:10080773", "MEDDRA:10090583", "NCIT:C94830", "SNOMEDCT:786037006", "medgen:374460", "icd11.foundation:55934726"], "information_content": 92.8}
{"id": "MONDO:0009368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urofacial syndrome type 1", "equivalent_identifiers": ["MONDO:0009368", "OMIM:236730"], "information_content": 100.0}
{"id": "HP:0005346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal facial expression", "equivalent_identifiers": ["HP:0005346", "UMLS:C4025209"], "information_content": 83.6}
{"id": "MONDO:0001556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethral obstruction", "equivalent_identifiers": ["MONDO:0001556", "DOID:12577", "UMLS:C0041972", "MESH:D014524", "MEDDRA:10046459", "NCIT:C79804", "SNOMEDCT:95588004", "medgen:12015", "HP:0000796"], "information_content": 84.2}
{"id": "MONDO:0011411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chudley-McCullough syndrome", "equivalent_identifiers": ["MONDO:0011411", "OMIM:604213", "orphanet:314597", "UMLS:C1858695", "MESH:C535459", "SNOMEDCT:773610007", "medgen:347699"], "information_content": 100.0}
{"id": "HP:0002700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large foramen magnum", "equivalent_identifiers": ["HP:0002700", "UMLS:C1844508", "UMLS:C4073291", "UMLS:C4280554", "UMLS:C4280555"], "information_content": 100.0}
{"id": "HP:0008625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe sensorineural hearing impairment", "equivalent_identifiers": ["HP:0008625", "UMLS:C4021533"], "information_content": 100.0}
{"id": "MONDO:0100518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary attention deficit-hyperactivity disorder", "equivalent_identifiers": ["MONDO:0100518", "OMIM:143465"], "information_content": 100.0}
{"id": "MONDO:0031219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Turcot syndrome", "equivalent_identifiers": ["MONDO:0031219", "DOID:0112182", "OMIM:276300", "OMIM.PS:276300", "orphanet:252202", "UMLS:C0265325", "UMLS:C5399763", "MESH:C536928", "MEDDRA:10077888", "MEDDRA:10088126", "NCIT:C3938", "SNOMEDCT:61665008", "medgen:78553"], "information_content": 83.6}
{"id": "MONDO:0016690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleomorphic xanthoastrocytoma", "equivalent_identifiers": ["MONDO:0016690", "DOID:4852", "orphanet:251607", "UMLS:C0334586", "MEDDRA:10085351", "NCIT:C4323", "SNOMEDCT:189924002", "SNOMEDCT:78838008", "medgen:137786", "HP:0033682"], "information_content": 89.4}
{"id": "MONDO:0003198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small intestine adenocarcinoma", "equivalent_identifiers": ["MONDO:0003198", "DOID:4906", "orphanet:104075", "EFO:1000532", "UMLS:C0278803", "MEDDRA:10041115", "MEDDRA:10073373", "NCIT:C7888", "SNOMEDCT:424440001", "medgen:82984", "icd11.foundation:1369513329", "HP:0040274"], "information_content": 79.9}
{"id": "MONDO:0016695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligodendroglioma", "equivalent_identifiers": ["MONDO:0016695", "DOID:3181", "orphanet:251627", "EFO:0000632", "UMLS:C0028945", "UMLS:C0751396", "MESH:D009837", "MEDDRA:10030286", "NCIT:C129319", "NCIT:C3288", "SNOMEDCT:1156974002", "SNOMEDCT:443936004", "medgen:45190", "HP:0033681"], "information_content": 79.0}
{"id": "MONDO:0002271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colon adenocarcinoma", "equivalent_identifiers": ["MONDO:0002271", "DOID:234", "EFO:1001949", "UMLS:C0338106", "MEDDRA:10001167", "NCIT:C4349", "medgen:137834", "HP:0040276"], "information_content": 77.3}
{"id": "MONDO:0015760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-Cell Lymphoma", "equivalent_identifiers": ["MONDO:0015760", "DOID:0081312", "orphanet:171918", "UMLS:C0079772", "MESH:D016399", "MEDDRA:10025321", "MEDDRA:10042971", "MEDDRA:10042972", "NCIT:C3466", "SNOMEDCT:109978004", "SNOMEDCT:3172003", "medgen:86957", "HP:0012190"], "information_content": 63.0}
{"id": "MONDO:0014706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa, autosomal dominant 3", "equivalent_identifiers": ["MONDO:0014706", "DOID:0070131", "OMIM:616603", "UMLS:C4225268", "medgen:899774"], "information_content": 100.0}
{"id": "MONDO:0011076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 1", "equivalent_identifiers": ["MONDO:0011076", "DOID:0080092", "OMIM:601419", "orphanet:98909", "UMLS:C1832370", "MESH:C563319", "SNOMEDCT:770627003", "medgen:330449"], "information_content": 100.0}
{"id": "HP:0003694", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late-onset proximal muscle weakness", "equivalent_identifiers": ["HP:0003694", "UMLS:C4025578"], "information_content": 100.0}
{"id": "MONDO:0031003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercholanemia, familial, 2", "equivalent_identifiers": ["MONDO:0031003", "OMIM:619256", "UMLS:C5543243", "medgen:1780531"], "information_content": 100.0}
{"id": "MONDO:0014513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 10", "equivalent_identifiers": ["MONDO:0014513", "DOID:0110931", "OMIM:616165", "UMLS:C4015360", "medgen:863797"], "information_content": 100.0}
{"id": "MONDO:0029144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extraoral halitosis due to methanethiol oxidase deficiency", "equivalent_identifiers": ["MONDO:0029144", "OMIM:618148", "UMLS:C4748387", "SNOMEDCT:1269235004", "medgen:1648340"], "information_content": 100.0}
{"id": "HP:0100812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Halitosis", "equivalent_identifiers": ["HP:0100812", "UMLS:C0018520", "MEDDRA:10004062", "MEDDRA:10006325", "MEDDRA:10006326", "MEDDRA:10006331", "MEDDRA:10016536", "MEDDRA:10019058", "MEDDRA:10030093", "MEDDRA:10041220", "MEDDRA:10055964", "MEDDRA:10066188", "MEDDRA:10080535", "SNOMEDCT:79879001", "MESH:D006209"], "information_content": 95.4}
{"id": "MONDO:0859334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 50", "equivalent_identifiers": ["MONDO:0859334", "OMIM:620158", "UMLS:C5774272", "medgen:1824045"], "information_content": 100.0}
{"id": "HP:0032121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Froment sign", "equivalent_identifiers": ["HP:0032121", "UMLS:C1290999", "SNOMEDCT:26680000"], "information_content": 100.0}
{"id": "MONDO:0014910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 35", "equivalent_identifiers": ["MONDO:0014910", "DOID:0110620", "OMIM:617092", "UMLS:C4310721", "medgen:934688"], "information_content": 100.0}
{"id": "MONDO:0007152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 1", "equivalent_identifiers": ["MONDO:0007152", "DOID:0110070", "OMIM:107970", "UMLS:C1862511", "UMLS:C1862512", "MESH:C566254", "MESH:C566255", "medgen:349530", "ICD10:Q24.8"], "information_content": 100.0}
{"id": "MONDO:0009619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-micromelia syndrome", "equivalent_identifiers": ["MONDO:0009619", "DOID:0081432", "OMIM:251230", "orphanet:572768", "UMLS:C1855079", "MESH:C565382", "medgen:381553"], "information_content": 100.0}
{"id": "MONDO:0007970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melorheostosis", "equivalent_identifiers": ["MONDO:0007970", "DOID:4253", "OMIM:155950", "orphanet:2485", "UMLS:C0025239", "UMLS:C3149631", "MESH:D008557", "MEDDRA:10050284", "NCIT:C84887", "SNOMEDCT:44697002", "medgen:460981", "icd11.foundation:312433776", "HP:6000817"], "information_content": 100.0}
{"id": "MONDO:0014304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 61", "equivalent_identifiers": ["MONDO:0014304", "DOID:0110812", "OMIM:615685", "orphanet:401780", "UMLS:C3810294", "SNOMEDCT:726611001", "medgen:816624"], "information_content": 100.0}
{"id": "MONDO:0014369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014369", "DOID:0080328", "OMIM:615849", "orphanet:420584", "UMLS:C4014479", "medgen:862916"], "information_content": 100.0}
{"id": "MONDO:0005152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopituitarism", "equivalent_identifiers": ["MONDO:0005152", "DOID:9406", "EFO:0001380", "UMLS:C0020635", "MESH:D007018", "MEDDRA:10021066", "MEDDRA:10021067", "MEDDRA:10022466", "MEDDRA:10035093", "NCIT:C62591", "SNOMEDCT:74728003", "medgen:9386", "icd11.foundation:768216194", "HP:0040075"], "information_content": 76.7}
{"id": "MONDO:0008892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial intrahepatic cholestasis type 1", "equivalent_identifiers": ["MONDO:0008892", "DOID:0070226", "OMIM:211600", "orphanet:79306", "UMLS:C4551898", "MESH:C535933", "MEDDRA:10089174", "SNOMEDCT:1155913007", "medgen:1645830", "icd11.foundation:1414850183"], "information_content": 100.0}
{"id": "HP:0006575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intrahepatic cholestasis with episodic jaundice", "equivalent_identifiers": ["HP:0006575", "UMLS:C4025019"], "information_content": 100.0}
{"id": "MONDO:0014620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic dystonia 26", "equivalent_identifiers": ["MONDO:0014620", "DOID:0090036", "OMIM:616398", "UMLS:C4225341", "medgen:904244"], "information_content": 100.0}
{"id": "MONDO:0014905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 2", "equivalent_identifiers": ["MONDO:0014905", "DOID:0060994", "OMIM:617086", "orphanet:485421", "UMLS:C4310726", "medgen:934693"], "information_content": 100.0}
{"id": "MONDO:0010416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, cataract, retinitis pigmentosa, and sperm abnormalities", "equivalent_identifiers": ["MONDO:0010416", "OMIM:300719", "UMLS:C2678011", "MESH:C567467", "medgen:395517"], "information_content": 100.0}
{"id": "MONDO:0011732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial digital arthropathy-brachydactyly", "equivalent_identifiers": ["MONDO:0011732", "OMIM:606835", "orphanet:85169", "UMLS:C1847406", "MESH:C564656", "NCIT:C175208", "medgen:335678"], "information_content": 100.0}
{"id": "HP:0003795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short middle phalanx of toe", "equivalent_identifiers": ["HP:0003795", "UMLS:C4021723"], "information_content": 87.2}
{"id": "HP:0005872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachytelomesophalangy", "equivalent_identifiers": ["HP:0005872", "UMLS:C1847408"], "information_content": 100.0}
{"id": "MONDO:0012665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 33", "equivalent_identifiers": ["MONDO:0012665", "DOID:0110264", "OMIM:611391", "UMLS:C1969644", "UMLS:C3808107", "MESH:C566955", "medgen:814437"], "information_content": 100.0}
{"id": "MONDO:0007290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 5 multiple types", "equivalent_identifiers": ["MONDO:0007290", "DOID:0110255", "OMIM:116800", "UMLS:C0266537", "UMLS:C3888417", "MESH:C535342", "SNOMEDCT:204128001", "SNOMEDCT:21590003", "medgen:78608", "HP:0007971"], "information_content": 92.8}
{"id": "MONDO:0008977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrosarcoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0008977", "DOID:3371", "OMIM:215300", "orphanet:55880", "EFO:0000333", "EFO:0010832", "UMLS:C0008479", "UMLS:C1335473", "MESH:D002813", "MEDDRA:10008726", "MEDDRA:10008734", "MEDDRA:10008737", "NCIT:C2946", "NCIT:C7155", "SNOMEDCT:1163016002", "SNOMEDCT:14990007", "SNOMEDCT:443520009", "SNOMEDCT:735679005", "medgen:3054", "HP:0006765"], "information_content": 73.1}
{"id": "MONDO:0033371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 62", "equivalent_identifiers": ["MONDO:0033371", "DOID:0080420", "OMIM:617938", "UMLS:C4693699", "medgen:1631233"], "information_content": 100.0}
{"id": "MONDO:0009777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oliver syndrome", "equivalent_identifiers": ["MONDO:0009777", "OMIM:258200", "orphanet:2920", "UMLS:C1850320", "MESH:C564931", "SNOMEDCT:721017000", "medgen:342472", "icd11.foundation:2072460929"], "information_content": 100.0}
{"id": "MONDO:0013016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte adhesion deficiency 3", "equivalent_identifiers": ["MONDO:0013016", "DOID:0110912", "OMIM:612840", "orphanet:99844", "UMLS:C2748536", "MESH:C567555", "NCIT:C154615", "SNOMEDCT:1269277004", "medgen:411605"], "information_content": 100.0}
{"id": "MONDO:0002245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blood platelet disease", "equivalent_identifiers": ["MONDO:0002245", "UMLS:C0151854", "UMLS:C4020863", "MESH:D001791", "MEDDRA:10000167", "MEDDRA:10035511", "MEDDRA:10035512", "MEDDRA:10035544", "MEDDRA:10043548", "NCIT:C131634", "SNOMEDCT:127566005", "SNOMEDCT:22716005", "medgen:57492", "HP:0001872"], "information_content": 67.3}
{"id": "HP:0002733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lymph node morphology", "equivalent_identifiers": ["HP:0002733", "UMLS:C0149727"], "information_content": 68.7}
{"id": "MONDO:0011390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 2", "equivalent_identifiers": ["MONDO:0011390", "DOID:0111129", "OMIM:603965", "UMLS:C1858915", "MESH:C565831", "medgen:349053"], "information_content": 100.0}
{"id": "MONDO:0020747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sitosterolemia 1", "equivalent_identifiers": ["MONDO:0020747", "DOID:0070634", "OMIM:210250", "UMLS:C2749759", "medgen:440869"], "information_content": 100.0}
{"id": "MONDO:0001612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carotid stenosis", "equivalent_identifiers": ["MONDO:0001612", "DOID:13001", "UMLS:C0007282", "MESH:D016893", "MEDDRA:10007687", "NCIT:C95804", "SNOMEDCT:64586002", "medgen:785", "HP:0100546"], "information_content": 100.0}
{"id": "MONDO:0007759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipidemia, familial combined, LPL related", "equivalent_identifiers": ["MONDO:0007759", "DOID:13809", "OMIM:144250", "UMLS:C0020474", "MESH:D006950", "MEDDRA:10045263", "MEDDRA:10054675", "NCIT:C35637", "SNOMEDCT:238040008", "SNOMEDCT:299465007", "medgen:6965", "ICD10:E78.49", "HP:0008158"], "information_content": 100.0}
{"id": "HP:0004802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic hemolytic anemia", "equivalent_identifiers": ["HP:0004802", "UMLS:C1859495"], "information_content": 100.0}
{"id": "MONDO:0013027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior amorphous corneal dystrophy", "equivalent_identifiers": ["MONDO:0013027", "DOID:0060452", "OMIM:612868", "orphanet:98971", "UMLS:C2748502", "MESH:C567546", "SNOMEDCT:719296002", "medgen:412567", "icd11.foundation:347556972"], "information_content": 100.0}
{"id": "MONDO:0014373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 10", "equivalent_identifiers": ["MONDO:0014373", "DOID:0080386", "OMIM:615861", "UMLS:C4014507", "medgen:862944"], "information_content": 100.0}
{"id": "MONDO:0009811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoma of middle ear", "equivalent_identifiers": ["MONDO:0009811", "OMIM:259650", "UMLS:C1850142", "MESH:C564917", "medgen:342425"], "information_content": 100.0}
{"id": "MONDO:0033667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delpire-McNeill syndrome", "equivalent_identifiers": ["MONDO:0033667", "OMIM:619083", "UMLS:C5436771", "medgen:1725056"], "information_content": 100.0}
{"id": "MONDO:0957954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 14", "equivalent_identifiers": ["MONDO:0957954", "OMIM:620602", "UMLS:C5882718", "medgen:1851480"], "information_content": 100.0}
{"id": "MONDO:0007886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine fibroid", "equivalent_identifiers": ["MONDO:0007886", "DOID:13223", "OMIM:150699", "EFO:0000731", "UMLS:C0042133", "UMLS:C2242776", "MEDDRA:10024186", "MEDDRA:10046783", "MEDDRA:10046784", "MEDDRA:10046787", "MEDDRA:10046798", "MEDDRA:10046801", "MEDDRA:10081129", "NCIT:C3434", "SNOMEDCT:44598004", "SNOMEDCT:95315005", "medgen:21801", "ICD10:D25", "ICD9:218", "HP:0000131"], "information_content": 79.9}
{"id": "HP:0003536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased fumarate hydratase activity", "equivalent_identifiers": ["HP:0003536", "UMLS:C1853903"], "information_content": 100.0}
{"id": "HP:0007437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple cutaneous leiomyomas", "equivalent_identifiers": ["HP:0007437", "NCIT:C51302", "UMLS:C1708350", "MEDDRA:10067944", "MEDDRA:10077859", "MEDDRA:10077866", "SNOMEDCT:1162799008", "MESH:C535516"], "information_content": 89.4}
{"id": "MONDO:0012239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 4B, autosomal recessive", "equivalent_identifiers": ["MONDO:0012239", "DOID:0110926", "OMIM:609284", "UMLS:C1836448", "UMLS:C5829889", "MESH:C538348", "medgen:1840525"], "information_content": 100.0}
{"id": "MONDO:0030841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mismatch repair cancer syndrome 3", "equivalent_identifiers": ["MONDO:0030841", "OMIM:619097", "UMLS:C5436807", "medgen:1733656"], "information_content": 100.0}
{"id": "MONDO:0002165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectal neoplasm", "equivalent_identifiers": ["MONDO:0002165", "DOID:1984", "UMLS:C0034885", "MESH:D012004", "MEDDRA:10038071", "MEDDRA:10062099", "NCIT:C3350", "SNOMEDCT:126847008", "medgen:11148", "HP:0100743"], "information_content": 69.0}
{"id": "MONDO:0100103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal akinesia deformation sequence 3", "equivalent_identifiers": ["MONDO:0100103", "DOID:0111376", "OMIM:618389", "UMLS:C4760599", "medgen:1680087"], "information_content": 100.0}
{"id": "MONDO:0007400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jackson-Weiss syndrome", "equivalent_identifiers": ["MONDO:0007400", "DOID:0111337", "OMIM:123150", "orphanet:1540", "UMLS:C0795998", "MESH:C537559", "NCIT:C123814", "SNOMEDCT:709105005", "medgen:208653"], "information_content": 100.0}
{"id": "HP:0008080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hallux varus", "equivalent_identifiers": ["HP:0008080", "UMLS:C0546297", "SNOMEDCT:274147008", "MESH:D050488"], "information_content": 100.0}
{"id": "HP:0010077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad distal phalanx of the hallux", "equivalent_identifiers": ["HP:0010077", "UMLS:C4024068"], "information_content": 100.0}
{"id": "HP:0010086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad proximal phalanx of the hallux", "equivalent_identifiers": ["HP:0010086", "UMLS:C4021338"], "information_content": 100.0}
{"id": "HP:0008122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcaneonavicular fusion", "equivalent_identifiers": ["HP:0008122", "UMLS:C4024730"], "information_content": 100.0}
{"id": "MONDO:0859338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 78", "equivalent_identifiers": ["MONDO:0859338", "DOID:0070577", "OMIM:620170", "UMLS:C5774276", "medgen:1824049"], "information_content": 100.0}
{"id": "MONDO:0033368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 59", "equivalent_identifiers": ["MONDO:0033368", "DOID:0080291", "OMIM:617904", "UMLS:C4693550", "medgen:1633749"], "information_content": 100.0}
{"id": "OMIM:621285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intellectual developmental disorder, autosomal dominant 76", "equivalent_identifiers": ["OMIM:621285"]}
{"id": "HP:0012775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stellate iris", "equivalent_identifiers": ["HP:0012775", "UMLS:C4022727"], "information_content": 100.0}
{"id": "MONDO:0032730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 18", "equivalent_identifiers": ["MONDO:0032730", "DOID:0070399", "OMIM:618404", "UMLS:C5193078", "medgen:1680067"], "information_content": 100.0}
{"id": "MONDO:0014052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 8", "equivalent_identifiers": ["MONDO:0014052", "DOID:0110657", "OMIM:615120", "UMLS:C3808739", "medgen:815069"], "information_content": 100.0}
{"id": "MONDO:0013191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 5", "equivalent_identifiers": ["MONDO:0013191", "DOID:0111130", "OMIM:613237", "UMLS:C2750475", "MESH:C567687", "medgen:413315"], "information_content": 100.0}
{"id": "MONDO:0013801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 13", "equivalent_identifiers": ["MONDO:0013801", "DOID:0080445", "OMIM:614558", "UMLS:C3281191", "NCIT:C188139", "SNOMEDCT:765170001", "medgen:482821"], "information_content": 100.0}
{"id": "MONDO:0032702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 8", "equivalent_identifiers": ["MONDO:0032702", "DOID:0112367", "OMIM:618362", "UMLS:C5193054", "medgen:1679527"], "information_content": 100.0}
{"id": "MONDO:0014886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014886", "OMIM:617051", "orphanet:488627", "UMLS:C4310745", "medgen:934712"], "information_content": 100.0}
{"id": "MONDO:0970993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 119", "equivalent_identifiers": ["MONDO:0970993", "DOID:0061085", "OMIM:620825", "UMLS:C5935621", "medgen:1859911"], "information_content": 100.0}
{"id": "MONDO:0005647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genital warts", "equivalent_identifiers": ["MONDO:0005647", "DOID:11168", "EFO:0007147", "UMLS:C0009663", "UMLS:C0554632", "MESH:D003218", "MEDDRA:10010291", "MEDDRA:10010295", "MEDDRA:10018182", "MEDDRA:10047202", "MEDDRA:10048423", "MEDDRA:10059313", "NCIT:C2960", "NCIT:C4820", "SNOMEDCT:240542006", "SNOMEDCT:266113007", "SNOMEDCT:302812006", "medgen:108217", "ICD10:A63.0", "ICD9:078.11", "HP:0032301"], "information_content": 85.5}
{"id": "HP:0031160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelokathexis", "equivalent_identifiers": ["HP:0031160", "UMLS:C0272173", "SNOMEDCT:24974008"], "information_content": 100.0}
{"id": "MONDO:0007246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calcific aortic disease with immunologic abnormalities, familial", "equivalent_identifiers": ["MONDO:0007246", "OMIM:114065", "UMLS:C1861974", "MESH:C566182", "medgen:354631"], "information_content": 100.0}
{"id": "MONDO:0010167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urocanic aciduria", "equivalent_identifiers": ["MONDO:0010167", "DOID:0112180", "OMIM:276880", "orphanet:210128", "UMLS:C0268514", "MESH:C536479", "SNOMEDCT:60952007", "medgen:120644", "icd11.foundation:61773927", "HP:0012237"], "information_content": 100.0}
{"id": "MONDO:0009088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, neural, with atypical atopic dermatitis", "equivalent_identifiers": ["MONDO:0009088", "OMIM:221700", "UMLS:C1857334", "MESH:C565639", "medgen:346567"], "information_content": 100.0}
{"id": "HP:0007573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late onset atopic dermatitis", "equivalent_identifiers": ["HP:0007573", "UMLS:C4024843", "UMLS:C4280439"], "information_content": 100.0}
{"id": "HP:0100256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senile plaques", "equivalent_identifiers": ["HP:0100256", "UMLS:C0333463", "MEDDRA:10077174", "MEDDRA:10077206", "SNOMEDCT:38551001"], "information_content": 95.4}
{"id": "MONDO:0007093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism", "equivalent_identifiers": ["MONDO:0007093", "DOID:0110053", "OMIM:104510", "orphanet:100034", "UMLS:C1863012", "MESH:C566293", "medgen:350816"], "information_content": 100.0}
{"id": "MONDO:0100253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Roberts-SC phocomelia syndrome", "equivalent_identifiers": ["MONDO:0100253", "DOID:5325", "OMIM:268300", "orphanet:3103", "UMLS:C0392475", "MESH:C535687", "MEDDRA:10084326", "MEDDRA:10084330", "NCIT:C126326", "NCIT:C4681", "SNOMEDCT:48718006", "medgen:95931"], "information_content": 95.4}
{"id": "MONDO:0003645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cavernous hemangioma of face", "equivalent_identifiers": ["MONDO:0003645", "DOID:5776", "EFO:1000152", "UMLS:C1332863", "NCIT:C7053", "medgen:234097", "HP:0007486"], "information_content": 95.4}
{"id": "HP:0030721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tetraphocomelia", "equivalent_identifiers": ["HP:0030721", "UMLS:C1849370"], "information_content": 100.0}
{"id": "MONDO:0016020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontal encephalocele", "equivalent_identifiers": ["MONDO:0016020", "orphanet:1931", "UMLS:C0431289", "UMLS:C0431290", "SNOMEDCT:253103006", "SNOMEDCT:253104000", "medgen:98460", "icd11.foundation:1375023725", "HP:0007330"], "information_content": 90.9}
{"id": "HP:0007452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midface capillary hemangioma", "equivalent_identifiers": ["HP:0007452", "UMLS:C1849377"], "information_content": 100.0}
{"id": "HP:0430028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplasia of the maxilla", "equivalent_identifiers": ["HP:0430028", "UMLS:C0266081", "UMLS:C2227090", "UMLS:C4073209", "UMLS:C4280272", "UMLS:C4280273", "MEDDRA:10026953", "SNOMEDCT:28070007"], "information_content": 100.0}
{"id": "HP:0005916", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metacarpal morphology", "equivalent_identifiers": ["HP:0005916", "UMLS:C4021615"], "information_content": 67.8}
{"id": "HP:0003616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature separation of centromeric heterochromatin", "equivalent_identifiers": ["HP:0003616", "UMLS:C1849316"], "information_content": 100.0}
{"id": "OMIM:615134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9", "equivalent_identifiers": ["OMIM:615134", "UMLS:C3554574"]}
{"id": "MONDO:0009153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopia lentis et pupillae", "equivalent_identifiers": ["MONDO:0009153", "DOID:0111648", "OMIM:225200", "UMLS:C1644196", "MESH:C563268", "SNOMEDCT:419237004", "medgen:301316"], "information_content": 100.0}
{"id": "MONDO:0009467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "natal teeth-intestinal pseudoobstruction-patent ductus syndrome", "equivalent_identifiers": ["MONDO:0009467", "OMIM:243185", "UMLS:C1855732", "MESH:C538341", "medgen:340945"], "information_content": 100.0}
{"id": "MONDO:0007986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metatropic dysplasia", "equivalent_identifiers": ["MONDO:0007986", "DOID:0111514", "OMIM:156530", "orphanet:2635", "UMLS:C0265281", "MESH:C537356", "MEDDRA:10082970", "MEDDRA:10082982", "NCIT:C175209", "SNOMEDCT:22764001", "medgen:82699"], "information_content": 100.0}
{"id": "HP:0034187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clavicular pseudarthrosis", "equivalent_identifiers": ["HP:0034187", "UMLS:C5676779"], "information_content": 100.0}
{"id": "HP:0002810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dumbbell-shaped metaphyses", "equivalent_identifiers": ["HP:0002810", "UMLS:C3277123"], "information_content": 100.0}
{"id": "HP:0003562", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metaphyseal vascular invasion", "equivalent_identifiers": ["HP:0003562", "UMLS:C3277127"], "information_content": 100.0}
{"id": "HP:0002826", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Halberd-shaped pelvis", "equivalent_identifiers": ["HP:0002826", "UMLS:C3277119"], "information_content": 100.0}
{"id": "HP:0002822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplasia of the femoral trochanters", "equivalent_identifiers": ["HP:0002822", "UMLS:C3277120"], "information_content": 100.0}
{"id": "HP:0003332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent primary metaphyseal spongiosa", "equivalent_identifiers": ["HP:0003332", "UMLS:C3277126"], "information_content": 100.0}
{"id": "HP:6000653", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crescent-shaped iliac bone", "equivalent_identifiers": ["HP:6000653", "UMLS:C5937401"], "information_content": 100.0}
{"id": "HP:0002879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anisospondyly", "equivalent_identifiers": ["HP:0002879", "UMLS:C1857101"], "information_content": 100.0}
{"id": "HP:0002831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long coccyx", "equivalent_identifiers": ["HP:0002831", "UMLS:C3277116"], "information_content": 100.0}
{"id": "HP:0000904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flaring of rib cage", "equivalent_identifiers": ["HP:0000904", "UMLS:C1854780"], "information_content": 95.4}
{"id": "HP:0002766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Relatively short spine", "equivalent_identifiers": ["HP:0002766", "UMLS:C3277114"], "information_content": 95.4}
{"id": "HP:0003336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal enchondral ossification", "equivalent_identifiers": ["HP:0003336", "UMLS:C4025628"], "information_content": 67.2}
{"id": "MONDO:0032732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 113", "equivalent_identifiers": ["MONDO:0032732", "DOID:0111636", "OMIM:618410", "UMLS:C5193079", "medgen:1674289"], "information_content": 100.0}
{"id": "MONDO:0013624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rafiq syndrome", "equivalent_identifiers": ["MONDO:0013624", "DOID:0081097", "OMIM:614202", "UMLS:C3280127", "medgen:481757"], "information_content": 100.0}
{"id": "HP:0004523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long eyebrows", "equivalent_identifiers": ["HP:0004523", "UMLS:C3280131"], "information_content": 100.0}
{"id": "HP:0010801", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underdeveloped nasolabial fold", "equivalent_identifiers": ["HP:0010801", "UMLS:C4021227"], "information_content": 100.0}
{"id": "OMIM:616415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FAMILIAL ADENOMATOUS POLYPOSIS 3", "equivalent_identifiers": ["OMIM:616415", "UMLS:C4225157"]}
{"id": "MONDO:0032753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 9, autosomal recessive", "equivalent_identifiers": ["MONDO:0032753", "OMIM:618438", "UMLS:C5193100", "medgen:1680026"], "information_content": 100.0}
{"id": "MONDO:0010897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 3", "equivalent_identifiers": ["MONDO:0010897", "DOID:0070079", "OMIM:600511", "UMLS:C1838069", "medgen:324936"], "information_content": 100.0}
{"id": "OMIM:620819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ROTHMUND-THOMSON SYNDROME, TYPE 4", "equivalent_identifiers": ["OMIM:620819", "UMLS:C5935619"]}
{"id": "MONDO:0006740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "empty sella syndrome", "equivalent_identifiers": ["MONDO:0006740", "DOID:3642", "EFO:1000914", "UMLS:C0014008", "MESH:D004652", "MEDDRA:10014567", "NCIT:C84686", "SNOMEDCT:237722004", "medgen:41766", "icd11.foundation:49112094", "HP:6000483"], "information_content": 100.0}
{"id": "HP:0034396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hippocampal malrotation", "equivalent_identifiers": ["HP:0034396", "UMLS:C4539733"], "information_content": 100.0}
{"id": "MONDO:0012224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile seizures, familial, 6", "equivalent_identifiers": ["MONDO:0012224", "DOID:0111309", "OMIM:609253", "UMLS:C1836518", "MESH:C563764", "medgen:373107"], "information_content": 100.0}
{"id": "OMIM:616373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3", "equivalent_identifiers": ["OMIM:616373", "UMLS:C4225346"]}
{"id": "MONDO:0033620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 10", "equivalent_identifiers": ["MONDO:0033620", "DOID:0112108", "OMIM:619040", "UMLS:C5436656", "medgen:1769385"], "information_content": 100.0}
{"id": "HP:0030973", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postexertional symptom exacerbation", "equivalent_identifiers": ["HP:0030973", "NCIT:C189011", "UMLS:C2732413", "MEDDRA:10069634", "SNOMEDCT:444042007"], "information_content": 100.0}
{"id": "HP:0025075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased QRS voltage", "equivalent_identifiers": ["HP:0025075", "UMLS:C1112650", "MEDDRA:10057506"], "information_content": 100.0}
{"id": "HP:0410173", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating troponin I concentration", "equivalent_identifiers": ["HP:0410173", "UMLS:C4703660"], "information_content": 100.0}
{"id": "MONDO:0011485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 5", "equivalent_identifiers": ["MONDO:0011485", "DOID:0060714", "OMIM:604777", "UMLS:C1858133", "UMLS:C1858142", "MESH:C537265", "MESH:C565749", "medgen:347628"], "information_content": 100.0}
{"id": "OMIM:614564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL", "equivalent_identifiers": ["OMIM:614564", "UMLS:C3281203"]}
{"id": "HP:0033832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Livedo", "equivalent_identifiers": ["HP:0033832", "UMLS:C0332579", "UMLS:C5539838", "MEDDRA:10024728", "SNOMEDCT:13423002", "SNOMEDCT:247478000"], "information_content": 92.8}
{"id": "MONDO:0005173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "actinic keratosis", "equivalent_identifiers": ["MONDO:0005173", "DOID:8866", "EFO:0002496", "UMLS:C0022602", "UMLS:C1442958", "MESH:D055623", "MEDDRA:10000614", "MEDDRA:10039979", "MEDDRA:10039980", "MEDDRA:10041304", "NCIT:C3148", "SNOMEDCT:201101007", "SNOMEDCT:856006", "medgen:9627", "icd11.foundation:1803982621", "ICD10:L57.0", "ICD9:702.0", "HP:0025127"], "information_content": 79.6}
{"id": "MONDO:0019349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sotos syndrome", "equivalent_identifiers": ["MONDO:0019349", "DOID:0112103", "DOID:14748", "OMIM:117550", "orphanet:821", "UMLS:C0175695", "MESH:D058495", "MEDDRA:10064387", "MEDDRA:10064388", "NCIT:C75019", "SNOMEDCT:75968004", "medgen:61232", "icd11.foundation:1887392960"], "information_content": 92.8}
{"id": "HP:0004324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weight Gain", "equivalent_identifiers": ["HP:0004324", "NCIT:C62754", "UMLS:C0043094", "MEDDRA:10047896", "MEDDRA:10047898", "MEDDRA:10047899", "MEDDRA:10048060", "MEDDRA:10063441", "SNOMEDCT:161831008", "SNOMEDCT:262286000", "SNOMEDCT:816159004", "SNOMEDCT:8943002", "MESH:D015430"], "information_content": 78.8}
{"id": "MONDO:0000723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stuttering", "equivalent_identifiers": ["MONDO:0000723", "DOID:0060243", "OMIM.PS:184450", "UMLS:C0038131", "UMLS:C0038506", "UMLS:C0454542", "UMLS:C0751527", "UMLS:C0751528", "UMLS:C0751529", "MESH:D013342", "MEDDRA:10041910", "MEDDRA:10041912", "MEDDRA:10042266", "MEDDRA:10042267", "NCIT:C35043", "SNOMEDCT:229631007", "SNOMEDCT:39423001", "medgen:20932", "ICD10:F80.81", "HP:0025268"], "information_content": 89.4}
{"id": "HP:0006155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long phalanx of finger", "equivalent_identifiers": ["HP:0006155", "UMLS:C4025087"], "information_content": 90.9}
{"id": "HP:0012801", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow jaw", "equivalent_identifiers": ["HP:0012801", "UMLS:C4021066", "UMLS:C4280310"], "information_content": 100.0}
{"id": "MONDO:0014608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibulofacial dysostosis with alopecia", "equivalent_identifiers": ["MONDO:0014608", "DOID:0060365", "OMIM:616367", "orphanet:443995", "UMLS:C4225349", "SNOMEDCT:1216943004", "medgen:898794"], "information_content": 100.0}
{"id": "MONDO:0033645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 11", "equivalent_identifiers": ["MONDO:0033645", "DOID:0070497", "OMIM:619054", "UMLS:C5436694", "medgen:1760275"], "information_content": 100.0}
{"id": "MONDO:0008056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonic dystrophy type 1", "equivalent_identifiers": ["MONDO:0008056", "DOID:11722", "OMIM:160900", "orphanet:273", "UMLS:C3250443", "MEDDRA:10090453", "NCIT:C84679", "SNOMEDCT:77956009", "medgen:886881", "icd11.foundation:557405480", "ICD10:G71.11", "ICD9:359.21"], "information_content": 95.4}
{"id": "MONDO:0011688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy type B5", "equivalent_identifiers": ["MONDO:0011688", "DOID:0110635", "OMIM:606612", "UMLS:C1847759", "MESH:C564691", "medgen:335764"], "information_content": 100.0}
{"id": "MONDO:0010853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Helicobacter pylori infection, susceptibility to", "equivalent_identifiers": ["MONDO:0010853", "OMIM:600263", "UMLS:C1838332", "medgen:325004"], "information_content": 100.0}
{"id": "HP:0005202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Helicobacter pylori infection", "equivalent_identifiers": ["HP:0005202", "NCIT:C39293", "UMLS:C0850666", "MEDDRA:10004028", "MEDDRA:10019377", "SNOMEDCT:721730009"], "information_content": 84.8}
{"id": "MONDO:0009184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa with diaphragmatic hernia", "equivalent_identifiers": ["MONDO:0009184", "OMIM:226735", "UMLS:C1856933", "MESH:C565588", "medgen:346473"], "information_content": 100.0}
{"id": "MONDO:0014047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 5", "equivalent_identifiers": ["MONDO:0014047", "DOID:0081001", "OMIM:615108", "UMLS:C3554518", "medgen:767432"], "information_content": 100.0}
{"id": "MONDO:0013727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pregnancy loss, recurrent, susceptibility to, 1", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0013727", "OMIM:614389", "UMLS:C3280670", "medgen:482300"], "information_content": 100.0}
{"id": "MONDO:0009781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychotrichodysplasia and neutropenia", "equivalent_identifiers": ["MONDO:0009781", "OMIM:258360", "UMLS:C1850316", "MESH:C537752", "medgen:340512"], "information_content": 100.0}
{"id": "HP:0007717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic irritative conjunctivitis", "equivalent_identifiers": ["HP:0007717", "UMLS:C4024810"], "information_content": 100.0}
{"id": "MONDO:0012164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meacham syndrome", "equivalent_identifiers": ["MONDO:0012164", "OMIM:608978", "orphanet:3097", "UMLS:C1837026", "MESH:C538162", "SNOMEDCT:722461004", "medgen:373234", "icd11.foundation:1307620543"], "information_content": 100.0}
{"id": "HP:0040314", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blind vagina", "equivalent_identifiers": ["HP:0040314", "UMLS:C1848182"], "information_content": 100.0}
{"id": "MONDO:0100077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital alveolar dysplasia", "equivalent_identifiers": ["MONDO:0100077", "UMLS:C0035220", "MESH:D012127", "MEDDRA:10013494", "MEDDRA:10021735", "MEDDRA:10028974", "MEDDRA:10038690", "MEDDRA:10038692", "MEDDRA:10038693", "MEDDRA:10042608", "MEDDRA:10042840", "medgen:20539", "HP:0033210"], "information_content": 92.8}
{"id": "HP:0011720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiac total anomalous pulmonary venous connection", "equivalent_identifiers": ["HP:0011720", "UMLS:C4021130"], "information_content": 100.0}
{"id": "HP:0032592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the right hemidiaphragm", "equivalent_identifiers": ["HP:0032592", "UMLS:C4748951"], "information_content": 100.0}
{"id": "MONDO:0010522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2", "equivalent_identifiers": ["MONDO:0010522", "DOID:0110059", "OMIM:301201", "UMLS:C1845051", "medgen:336845"], "information_content": 100.0}
{"id": "MONDO:0012701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 12 multiple types", "equivalent_identifiers": ["MONDO:0012701", "DOID:0110239", "OMIM:611597", "UMLS:C1969032", "UMLS:C3808115", "MESH:C566909", "medgen:814445"], "information_content": 100.0}
{"id": "HP:0007834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive cataract", "equivalent_identifiers": ["HP:0007834", "UMLS:C4021566"], "information_content": 100.0}
{"id": "MONDO:0020682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "equivalent_identifiers": ["MONDO:0020682", "DOID:0080738", "OMIM:130070", "UMLS:C4552003", "medgen:1646889"], "information_content": 100.0}
{"id": "HP:0007469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmoplantar cutis gyrata", "equivalent_identifiers": ["HP:0007469", "UMLS:C1851797"], "information_content": 100.0}
{"id": "HP:0011308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender toe", "equivalent_identifiers": ["HP:0011308", "UMLS:C4021168"], "information_content": 100.0}
{"id": "MONDO:0044324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Al Kaissi syndrome", "equivalent_identifiers": ["MONDO:0044324", "OMIM:617694", "UMLS:C4540156", "medgen:1611968"], "information_content": 100.0}
{"id": "HP:0430046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small joint hypermobilty", "equivalent_identifiers": ["HP:0430046", "UMLS:C5936805"], "information_content": 83.6}
{"id": "MONDO:0859287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, hypotonia, and absent language", "equivalent_identifiers": ["MONDO:0859287", "OMIM:620038", "UMLS:C5774216", "medgen:1823989"], "information_content": 100.0}
{"id": "MONDO:0011843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 25", "equivalent_identifiers": ["MONDO:0011843", "DOID:0110328", "OMIM:607487", "UMLS:C1843791", "UMLS:C4225408", "MESH:C564388", "medgen:895360"], "information_content": 100.0}
{"id": "MONDO:0008853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barber-Say syndrome", "equivalent_identifiers": ["MONDO:0008853", "DOID:0060549", "OMIM:209885", "orphanet:1231", "UMLS:C1319466", "MESH:C537908", "SNOMEDCT:408537003", "medgen:230818", "icd11.foundation:37248895"], "information_content": 100.0}
{"id": "HP:0000064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic labia minora", "equivalent_identifiers": ["HP:0000064", "UMLS:C1849295"], "information_content": 100.0}
{"id": "HP:0400002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extra concha fold", "equivalent_identifiers": ["HP:0400002", "UMLS:C4020915"], "information_content": 100.0}
{"id": "OMIM:615083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 12", "equivalent_identifiers": ["OMIM:615083", "UMLS:C3554460"]}
{"id": "MONDO:0021392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyp of large intestine", "equivalent_identifiers": ["MONDO:0021392", "UMLS:C0949059", "MEDDRA:10048646", "MEDDRA:10051589", "NCIT:C5679", "SNOMEDCT:399505005", "medgen:182694", "icd11.foundation:537826614", "HP:0200063"], "information_content": 76.0}
{"id": "MONDO:0060641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without seizures and gait abnormalities", "equivalent_identifiers": ["MONDO:0060641", "OMIM:617864", "UMLS:C4693391", "medgen:1645968"], "information_content": 100.0}
{"id": "MONDO:0030517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 8, nonphotosensitive", "equivalent_identifiers": ["MONDO:0030517", "DOID:0061023", "OMIM:619691", "UMLS:C5562057", "medgen:1794267"], "information_content": 100.0}
{"id": "MONDO:0031040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 12", "equivalent_identifiers": ["MONDO:0031040", "OMIM:620010", "UMLS:C5774311", "medgen:1824084"], "information_content": 100.0}
{"id": "MONDO:0010389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "equivalent_identifiers": ["MONDO:0010389", "DOID:0112000", "OMIM:300645", "orphanet:319623", "UMLS:C1970859", "MESH:C567068", "medgen:370369"], "information_content": 100.0}
{"id": "MONDO:0006052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary tuberculosis", "equivalent_identifiers": ["MONDO:0006052", "DOID:2957", "EFO:1000049", "UMLS:C0041327", "MESH:D014397", "MEDDRA:10034980", "MEDDRA:10037435", "MEDDRA:10037440", "MEDDRA:10037443", "MEDDRA:10046123", "MEDDRA:10087871", "NCIT:C26899", "SNOMEDCT:154283005", "SNOMEDCT:700272008", "medgen:11947", "ICD10:A15", "ICD9:011", "HP:0032262"], "information_content": 89.4}
{"id": "MONDO:0030800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 9", "equivalent_identifiers": ["MONDO:0030800", "OMIM:619849", "UMLS:C5676973", "medgen:1809292"], "information_content": 100.0}
{"id": "HP:0034328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibro-obliterative bile-duct lesion", "equivalent_identifiers": ["HP:0034328", "UMLS:C5706172"], "information_content": 100.0}
{"id": "MONDO:0009056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis verticis gyrata and intellectual disability", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009056", "OMIM:219300", "UMLS:C1857444", "medgen:387821"], "information_content": 100.0}
{"id": "MONDO:0008285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal", "equivalent_identifiers": ["MONDO:0008285", "OMIM:175510", "EFO:0010279", "UMLS:C1868000", "UMLS:C5193005", "MESH:C566774", "medgen:1677803"], "information_content": 100.0}
{"id": "MONDO:0011719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plexosarcoma", "equivalent_identifiers": ["MONDO:0011719", "DOID:9253", "OMIM:606764", "orphanet:44890", "UMLS:C0238198", "UMLS:C1704399", "UMLS:C2931518", "UMLS:C3179349", "MESH:C537517", "MESH:D046152", "MEDDRA:10051066", "MEDDRA:10062427", "MEDDRA:10091282", "MEDDRA:10091288", "NCIT:C27940", "NCIT:C3868", "NCIT:C53999", "NCIT:C54000", "SNOMEDCT:1187383001", "SNOMEDCT:128755003", "SNOMEDCT:128756002", "SNOMEDCT:420120006", "medgen:116049", "ICD10:C49.A", "HP:0100723"], "information_content": 72.4}
{"id": "MONDO:0958333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 13, syndromic", "equivalent_identifiers": ["MONDO:0958333", "OMIM:620776", "UMLS:C5935599", "medgen:1856296"], "information_content": 100.0}
{"id": "HP:4000208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity", "equivalent_identifiers": ["HP:4000208", "UMLS:C5872957"], "information_content": 100.0}
{"id": "HP:0031385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megakaryocyte nucleus hypolobulation", "equivalent_identifiers": ["HP:0031385", "UMLS:C4531162"], "information_content": 100.0}
{"id": "MONDO:0010252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked, with panhypopituitarism", "equivalent_identifiers": ["MONDO:0010252", "OMIM:300123", "UMLS:C2678223", "MESH:C567485", "medgen:394771"], "information_content": 100.0}
{"id": "MONDO:0009688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenia gravis", "equivalent_identifiers": ["MONDO:0009688", "DOID:437", "OMIM:254200", "orphanet:589", "EFO:0004991", "UMLS:C0026896", "UMLS:C1260409", "MESH:D009157", "MEDDRA:10028417", "MEDDRA:10028420", "NCIT:C60989", "SNOMEDCT:91637004", "medgen:7764", "icd11.foundation:1270100227", "ICD10:G70.0", "ICD10:G70.00", "ICD9:358.0", "ICD9:358.00"], "information_content": 82.1}
{"id": "MONDO:0008172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic osteoarthropathy, primary, autosomal dominant", "equivalent_identifiers": ["MONDO:0008172", "OMIM:167100", "UMLS:C2674695", "medgen:382429"], "information_content": 100.0}
{"id": "HP:0034049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary prostaglandin E2 level", "equivalent_identifiers": ["HP:0034049", "UMLS:C2749457"], "information_content": 100.0}
{"id": "MONDO:0958326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy with or without cone dysfunction", "equivalent_identifiers": ["MONDO:0958326", "OMIM:620762", "UMLS:C5935594", "medgen:1853300"], "information_content": 100.0}
{"id": "HP:0012511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporal optic disc pallor", "equivalent_identifiers": ["HP:0012511", "UMLS:C0344299", "MEDDRA:10043210", "SNOMEDCT:247220006"], "information_content": 95.4}
{"id": "MONDO:0009818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 3", "equivalent_identifiers": ["MONDO:0009818", "DOID:0110941", "OMIM:259730", "orphanet:2785", "UMLS:C0345407", "MESH:C536058", "NCIT:C118438", "SNOMEDCT:254122007", "medgen:91042"], "information_content": 100.0}
{"id": "MONDO:0015827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal renal tubular acidosis", "equivalent_identifiers": ["MONDO:0015827", "OMIM:109270", "OMIM:112010", "OMIM:601551", "OMIM.PS:179800", "orphanet:18", "UMLS:C1704380", "UMLS:C1832168", "UMLS:C1862191", "UMLS:C1862320", "UMLS:C3892933", "UMLS:C4015889", "UMLS:C4015890", "UMLS:C4015891", "UMLS:C4015892", "UMLS:C4015893", "UMLS:C4015894", "UMLS:C4015895", "UMLS:C4015896", "UMLS:C4015897", "UMLS:C4015899", "UMLS:C4015900", "UMLS:C4015901", "UMLS:C4015902", "UMLS:C4015903", "UMLS:C4015904", "UMLS:C4225456", "UMLS:C4225644", "UMLS:C4225645", "UMLS:C4225646", "MEDDRA:10045224", "MEDDRA:10088489", "NCIT:C123217", "NCIT:C123220", "SNOMEDCT:236461000", "SNOMEDCT:86210009", "medgen:853429", "HP:0008341"], "information_content": 88.2}
{"id": "MONDO:0008904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "camptomelic syndrome, long-limb type", "equivalent_identifiers": ["MONDO:0008904", "OMIM:211990", "UMLS:C1859354", "MESH:C537977", "medgen:347129"], "information_content": 100.0}
{"id": "MONDO:0008098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesomelic dwarfism, Nievergelt type", "equivalent_identifiers": ["MONDO:0008098", "OMIM:163400", "orphanet:2633", "UMLS:C0432231", "MESH:C536120", "SNOMEDCT:33979003", "medgen:98478", "icd11.foundation:2034257092"], "information_content": 100.0}
{"id": "HP:0008845", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesomelic short stature", "equivalent_identifiers": ["HP:0008845", "UMLS:C1855274"], "information_content": 100.0}
{"id": "MONDO:0013034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis palmoplantaris striata 2", "equivalent_identifiers": ["MONDO:0013034", "DOID:0081109", "OMIM:612908", "UMLS:C1852127", "MESH:C565102", "medgen:343725"], "information_content": 100.0}
{"id": "MONDO:0859216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis", "equivalent_identifiers": ["MONDO:0859216", "OMIM:619685", "UMLS:C5562052", "medgen:1794262"], "information_content": 100.0}
{"id": "HP:0040288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasogastric tube feeding", "equivalent_identifiers": ["HP:0040288"], "information_content": 100.0}
{"id": "MONDO:0008045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome", "equivalent_identifiers": ["MONDO:0008045", "DOID:0111527", "OMIM:159950", "orphanet:2590", "UMLS:C1834569", "MESH:C537563", "SNOMEDCT:703524005", "medgen:371854"], "information_content": 100.0}
{"id": "HP:0008955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive distal muscular atrophy", "equivalent_identifiers": ["HP:0008955", "UMLS:C4024613"], "information_content": 100.0}
{"id": "MONDO:0060551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar atrophy, developmental delay, and seizures", "equivalent_identifiers": ["MONDO:0060551", "OMIM:617643", "UMLS:C4539985", "medgen:1626119"], "information_content": 100.0}
{"id": "MONDO:0011756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome 4", "equivalent_identifiers": ["MONDO:0011756", "OMIM:606996", "UMLS:C1846979", "MESH:C537581", "medgen:337697"], "information_content": 100.0}
{"id": "MONDO:0011831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 8", "equivalent_identifiers": ["MONDO:0011831", "DOID:0110076", "OMIM:607450", "UMLS:C1843896", "MESH:C564400", "medgen:336069"], "information_content": 100.0}
{"id": "MONDO:0008313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvic organ prolapse, susceptibility to", "equivalent_identifiers": ["MONDO:0008313", "OMIM:176780", "UMLS:C0205990", "UMLS:C1868686", "UMLS:C2752090", "MEDDRA:10036842", "MEDDRA:10046940", "SNOMEDCT:398022005", "medgen:442887"], "information_content": 100.0}
{"id": "MONDO:0007374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schnyder corneal dystrophy", "equivalent_identifiers": ["MONDO:0007374", "DOID:0060456", "OMIM:121800", "orphanet:98967", "UMLS:C0271287", "MESH:C535475", "SNOMEDCT:39662004", "SNOMEDCT:419395007", "medgen:124391", "HP:0007760"], "information_content": 100.0}
{"id": "MONDO:0030846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 48", "equivalent_identifiers": ["MONDO:0030846", "DOID:0112176", "OMIM:619108", "UMLS:C5436823", "medgen:1761843"], "information_content": 100.0}
{"id": "MONDO:0012691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LEOPARD syndrome 2", "equivalent_identifiers": ["MONDO:0012691", "DOID:0080549", "OMIM:611554", "UMLS:C1969056", "MESH:C537117", "medgen:370588"], "information_content": 100.0}
{"id": "MONDO:0008438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 4", "equivalent_identifiers": ["MONDO:0008438", "DOID:0110792", "OMIM:182601", "orphanet:100985", "UMLS:C1866855", "UMLS:C3711371", "MESH:C536865", "MESH:C580456", "NCIT:C129981", "SNOMEDCT:723820001", "medgen:401097"], "information_content": 100.0}
{"id": "MONDO:0009674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, adult-onset, with leukoencephalopathy", "equivalent_identifiers": ["MONDO:0009674", "OMIM:253590", "UMLS:C1854646", "MESH:C565361", "medgen:340269"], "information_content": 100.0}
{"id": "MONDO:0010889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial dissection-lentiginosis syndrome", "equivalent_identifiers": ["MONDO:0010889", "OMIM:600459", "orphanet:1682", "UMLS:C1838122", "MESH:C563937", "medgen:325345"], "information_content": 100.0}
{"id": "HP:0012180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystic medial necrosis", "equivalent_identifiers": ["HP:0012180", "UMLS:C4551473", "MEDDRA:10077466", "SNOMEDCT:234021009", "SNOMEDCT:42182000"], "information_content": 90.9}
{"id": "HP:0005294", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arterial dissection", "equivalent_identifiers": ["HP:0005294", "NCIT:C26694", "NCIT:C99704", "UMLS:C0002949", "MEDDRA:10051009", "MEDDRA:10061660", "SNOMEDCT:233992003", "SNOMEDCT:26845001", "SNOMEDCT:710864009", "SNOMEDCT:9406001"], "information_content": 84.8}
{"id": "MONDO:0014930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 56", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014930", "DOID:0081217", "OMIM:617125", "UMLS:C4310703", "medgen:934670"], "information_content": 100.0}
{"id": "MONDO:0968978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aplasia cutis-enamel dysplasia syndrome", "equivalent_identifiers": ["MONDO:0968978", "OMIM:620789", "UMLS:C5935608", "medgen:1854704"], "information_content": 100.0}
{"id": "MONDO:0009298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GOMBO syndrome", "equivalent_identifiers": ["MONDO:0009298", "OMIM:233270", "UMLS:C1856274", "MESH:C537284", "medgen:343515"], "information_content": 100.0}
{"id": "MONDO:0013755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PYCR1-related de Barsy syndrome", "equivalent_identifiers": ["MONDO:0013755", "DOID:0070138", "OMIM:614438", "orphanet:293633", "UMLS:C3280799", "SNOMEDCT:1295488006", "medgen:482429"], "information_content": 100.0}
{"id": "MONDO:0014324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachyonychia congenita 3", "equivalent_identifiers": ["MONDO:0014324", "OMIM:615726", "UMLS:C3714948", "medgen:811523"], "information_content": 100.0}
{"id": "HP:0008401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychogryphosis of toenails", "equivalent_identifiers": ["HP:0008401", "UMLS:C4024679"], "information_content": 100.0}
{"id": "HP:0007556", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plantar hyperkeratosis", "equivalent_identifiers": ["HP:0007556", "UMLS:C1856954"], "information_content": 81.3}
{"id": "HP:0040181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chapped lip", "equivalent_identifiers": ["HP:0040181", "EFO:1001305", "UMLS:C0221264", "UMLS:C0263449", "UMLS:C0424489", "UMLS:C2703066", "MEDDRA:10008418", "MEDDRA:10012484", "MEDDRA:10013780", "MEDDRA:10013793", "MEDDRA:10024552", "MEDDRA:10034438", "MEDDRA:10034541", "MEDDRA:10048471", "MEDDRA:10049047", "MEDDRA:10049347", "SNOMEDCT:16459000", "SNOMEDCT:238751002", "SNOMEDCT:248181001", "SNOMEDCT:248182008", "SNOMEDCT:402294001", "MESH:D019557"], "information_content": 100.0}
{"id": "HP:0010765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar hyperkeratosis", "equivalent_identifiers": ["HP:0010765", "UMLS:C4023710"], "information_content": 80.9}
{"id": "MONDO:0014021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial episodic pain syndrome with predominantly upper body involvement", "equivalent_identifiers": ["MONDO:0014021", "DOID:0111729", "OMIM:615040", "orphanet:391389", "UMLS:C3808667", "medgen:814997"], "information_content": 100.0}
{"id": "HP:0032148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic pain", "equivalent_identifiers": ["HP:0032148", "UMLS:C3808668"], "information_content": 90.9}
{"id": "MONDO:0011527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4E", "equivalent_identifiers": ["MONDO:0011527", "DOID:0110195", "OMIM:605253", "orphanet:99951", "UMLS:C4721436", "UMLS:C4721437", "UMLS:C4749147", "MESH:C535301", "SNOMEDCT:763135001", "medgen:1648303", "icd11.foundation:225958466"], "information_content": 100.0}
{"id": "MONDO:0011350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 17", "equivalent_identifiers": ["MONDO:0011350", "DOID:0110548", "OMIM:603622", "UMLS:C1863659", "UMLS:C1863660", "medgen:350942"], "information_content": 100.0}
{"id": "MONDO:0032814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microangiopathy and leukoencephalopathy, pontine, autosomal dominant", "equivalent_identifiers": ["MONDO:0032814", "OMIM:618564", "orphanet:477749", "UMLS:C5231411", "SNOMEDCT:1173997008", "medgen:1684781"], "information_content": 100.0}
{"id": "MONDO:0044207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific granule deficiency 1", "equivalent_identifiers": ["MONDO:0044207", "OMIM:245480", "UMLS:C4551556", "medgen:1644049"], "information_content": 100.0}
{"id": "HP:0041042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent neutrophil lactoferrin", "equivalent_identifiers": ["HP:0041042", "UMLS:C5209288"], "information_content": 100.0}
{"id": "HP:0041043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neutrophil nuclear clefts", "equivalent_identifiers": ["HP:0041043", "UMLS:C5209289"], "information_content": 100.0}
{"id": "HP:0011993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired neutrophil bactericidal activity", "equivalent_identifiers": ["HP:0011993", "UMLS:C4023090"], "information_content": 100.0}
{"id": "HP:0012551", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent neutrophil specific granules", "equivalent_identifiers": ["HP:0012551", "UMLS:C4022852"], "information_content": 95.4}
{"id": "HP:0011991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal total neutrophil count", "equivalent_identifiers": ["HP:0011991", "UMLS:C0580316", "UMLS:C4023092", "MEDDRA:10029364", "MEDDRA:10061313", "SNOMEDCT:165519006"], "information_content": 80.6}
{"id": "HP:0041046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased neutrophil ribosomes", "equivalent_identifiers": ["HP:0041046", "UMLS:C5209292"], "information_content": 100.0}
{"id": "HP:0041044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low neutrophil alkaline phosphatase", "equivalent_identifiers": ["HP:0041044", "UMLS:C5209290"], "information_content": 100.0}
{"id": "HP:0041045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased neutrophil mitochondria", "equivalent_identifiers": ["HP:0041045", "UMLS:C5209291"], "information_content": 100.0}
{"id": "HP:0040238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired neutrophil chemotaxis", "equivalent_identifiers": ["HP:0040238", "UMLS:C4280709"], "information_content": 100.0}
{"id": "MONDO:0014689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014689", "DOID:0080592", "OMIM:616549", "orphanet:447974", "UMLS:C4225285", "SNOMEDCT:1217225001", "medgen:894399"], "information_content": 100.0}
{"id": "MONDO:0009843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 3", "equivalent_identifiers": ["MONDO:0009843", "DOID:0060790", "OMIM:260600", "orphanet:280293", "UMLS:C1850053", "MESH:C536319", "medgen:342403"], "information_content": 100.0}
{"id": "MONDO:0010714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelizeaus-Merzbacher spectrum disorder", "equivalent_identifiers": ["MONDO:0010714", "DOID:3210", "OMIM:312080", "orphanet:702", "UMLS:C0205711", "MESH:D020371", "MEDDRA:10067610", "NCIT:C75487", "SNOMEDCT:64855000", "medgen:61440", "icd11.foundation:1313582105", "HP:0003269"], "information_content": 88.2}
{"id": "MONDO:0010085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schilder disease", "equivalent_identifiers": ["MONDO:0010085", "OMIM:272100", "orphanet:59298", "UMLS:C0007795", "MESH:D002549", "MEDDRA:10039595", "MEDDRA:10049020", "MEDDRA:10062949", "NCIT:C84670", "SNOMEDCT:49692006", "medgen:3324", "HP:0006918"], "information_content": 100.0}
{"id": "MONDO:0013717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 5", "equivalent_identifiers": ["MONDO:0013717", "DOID:0110089", "OMIM:614376", "UMLS:C3280598", "medgen:482228"], "information_content": 100.0}
{"id": "HP:0004743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic tubulointerstitial nephritis", "equivalent_identifiers": ["HP:0004743", "UMLS:C0238304", "MEDDRA:10008929", "MEDDRA:10022615", "MEDDRA:10029136", "SNOMEDCT:60926001"], "information_content": 100.0}
{"id": "HP:0100866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short iliac bones", "equivalent_identifiers": ["HP:0100866", "UMLS:C1849063"], "information_content": 100.0}
{"id": "MONDO:0011722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MOMES Syndrome", "equivalent_identifiers": ["MONDO:0011722", "OMIM:606772", "orphanet:397973", "UMLS:C1847522", "MESH:C564660", "SNOMEDCT:774102003", "medgen:376145"], "information_content": 100.0}
{"id": "MONDO:0012274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 3", "equivalent_identifiers": ["MONDO:0012274", "DOID:0081237", "OMIM:609441", "UMLS:C1836182", "UMLS:C4225404", "MESH:C537913", "medgen:904735"], "information_content": 100.0}
{"id": "HP:0005028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened proximal tibial metaphyses", "equivalent_identifiers": ["HP:0005028", "UMLS:C1836187"], "information_content": 100.0}
{"id": "HP:0009596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the proximal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009596", "UMLS:C4024275"], "information_content": 100.0}
{"id": "MONDO:0030498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 92", "equivalent_identifiers": ["MONDO:0030498", "DOID:0061062", "OMIM:619652", "UMLS:C5562039", "medgen:1794249"], "information_content": 100.0}
{"id": "HP:0031380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal B cell proliferation", "equivalent_identifiers": ["HP:0031380", "UMLS:C4531167"], "information_content": 100.0}
{"id": "MONDO:0004789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholangitis", "equivalent_identifiers": ["MONDO:0004789", "DOID:9446", "UMLS:C0008311", "MESH:D002761", "MEDDRA:10008604", "MEDDRA:10008608", "MEDDRA:10021952", "NCIT:C26718", "SNOMEDCT:82403002", "medgen:40258", "icd11.foundation:1712178777", "ICD10:K83.0", "ICD9:576.1", "HP:0030151"], "information_content": 77.3}
{"id": "MONDO:0009916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "equivalent_identifiers": ["MONDO:0009916", "DOID:0112248", "OMIM:264300", "orphanet:752", "UMLS:C0268296", "UMLS:C1849695", "UMLS:C4694050", "MESH:C537805", "MESH:C564868", "NCIT:C120203", "SNOMEDCT:50658006", "medgen:120626", "icd11.foundation:887793448"], "information_content": 100.0}
{"id": "HP:0008730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Female external genitalia in individual with 46,XY karyotype", "equivalent_identifiers": ["HP:0008730", "UMLS:C1848178"], "information_content": 100.0}
{"id": "MONDO:0014926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 22", "equivalent_identifiers": ["MONDO:0014926", "DOID:0081011", "OMIM:617119", "UMLS:C5561936", "medgen:1794146"], "information_content": 100.0}
{"id": "HP:0007988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular hypopigmentation", "equivalent_identifiers": ["HP:0007988", "UMLS:C4024759"], "information_content": 92.8}
{"id": "MONDO:0024543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brittle cornea syndrome 1", "equivalent_identifiers": ["MONDO:0024543", "OMIM:229200", "UMLS:C0268344", "MESH:C536192", "SNOMEDCT:31798004", "medgen:78661"], "information_content": 100.0}
{"id": "HP:0000481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornela disease", "equivalent_identifiers": ["HP:0000481", "UMLS:C1855670", "UMLS:C4020889"], "information_content": 67.5}
{"id": "HP:0001119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keratoglobus", "equivalent_identifiers": ["HP:0001119", "UMLS:C3887531", "SNOMEDCT:388840007"], "information_content": 100.0}
{"id": "MONDO:0010162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tyrosinemia type III", "equivalent_identifiers": ["MONDO:0010162", "DOID:0050727", "OMIM:276710", "orphanet:69723", "UMLS:C0268623", "MEDDRA:10069461", "MEDDRA:10069464", "SNOMEDCT:413356003", "SNOMEDCT:415764005", "medgen:78694"], "information_content": 100.0}
{"id": "MONDO:0010018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "second metatarsal-metacarpal syndrome", "equivalent_identifiers": ["MONDO:0010018", "OMIM:269630", "UMLS:C1849259", "MESH:C564824", "medgen:341415"], "information_content": 100.0}
{"id": "HP:0100266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synostosis of carpals/tarsals", "equivalent_identifiers": ["HP:0100266", "UMLS:C4021025"], "information_content": 82.1}
{"id": "MONDO:0012792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 8a", "equivalent_identifiers": ["MONDO:0012792", "DOID:0070331", "DOID:0080127", "OMIM:604712", "OMIM:612075", "orphanet:255235", "EFO:0022093", "UMLS:C2749861", "UMLS:C2749862", "UMLS:C3150172", "SNOMEDCT:765100000", "medgen:412815"], "information_content": 100.0}
{"id": "MONDO:0030855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2", "equivalent_identifiers": ["MONDO:0030855", "OMIM:619120", "UMLS:C5436847", "medgen:1751229"], "information_content": 100.0}
{"id": "HP:0025019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arterial rupture", "equivalent_identifiers": ["HP:0025019", "NCIT:C197962", "UMLS:C0155760", "MEDDRA:10003173", "MEDDRA:10003174", "MEDDRA:10003237", "MEDDRA:10039300", "SNOMEDCT:46126003"], "information_content": 100.0}
{"id": "MONDO:0011720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 3", "equivalent_identifiers": ["MONDO:0011720", "DOID:0070168", "OMIM:606766", "UMLS:C1847540", "UMLS:C4721889", "MESH:C564665", "medgen:1648302"], "information_content": 100.0}
{"id": "MONDO:0030493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 60", "equivalent_identifiers": ["MONDO:0030493", "DOID:0112355", "OMIM:619646", "UMLS:C5562035", "medgen:1794245"], "information_content": 100.0}
{"id": "MONDO:0012991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kahrizi syndrome", "equivalent_identifiers": ["MONDO:0012991", "DOID:0050807", "OMIM:612713", "UMLS:C2675185", "MESH:C567196", "medgen:382543"], "information_content": 100.0}
{"id": "HP:0000329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial hemangioma", "equivalent_identifiers": ["HP:0000329", "UMLS:C1861443"], "information_content": 87.2}
{"id": "MONDO:0009953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte adhesion deficiency type II", "equivalent_identifiers": ["MONDO:0009953", "DOID:0070255", "DOID:0080492", "OMIM:266265", "orphanet:99843", "UMLS:C0398739", "MESH:C535755", "MEDDRA:10090497", "NCIT:C4690", "SNOMEDCT:234583001", "medgen:96022"], "information_content": 92.8}
{"id": "HP:0001574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the integument", "equivalent_identifiers": ["HP:0001574", "UMLS:C4025761"], "information_content": 49.6}
{"id": "HP:0030352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal serum insulin-like growth factor 1 level", "equivalent_identifiers": ["HP:0030352", "UMLS:C4072896"], "information_content": 92.8}
{"id": "HP:0010471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oligosacchariduria", "equivalent_identifiers": ["HP:0010471", "UMLS:C4023815"], "information_content": 84.8}
{"id": "HP:0005400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduction of neutrophil motility", "equivalent_identifiers": ["HP:0005400", "UMLS:C4025201"], "information_content": 95.4}
{"id": "MONDO:0007425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, sensorineural, with peripheral neuropathy and arterial disease", "equivalent_identifiers": ["MONDO:0007425", "OMIM:124950", "UMLS:C1852280", "MESH:C565120", "medgen:343766"], "information_content": 100.0}
{"id": "MONDO:0005294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral vascular disease", "equivalent_identifiers": ["MONDO:0005294", "DOID:341", "EFO:0003875", "EFO:0009085", "UMLS:C0003834", "UMLS:C0003838", "UMLS:C0031115", "UMLS:C0085096", "UMLS:C0750145", "UMLS:C1704436", "UMLS:C4025272", "UMLS:C4531019", "MESH:D001157", "MESH:D016491", "MEDDRA:10009194", "MEDDRA:10013255", "MEDDRA:10013283", "MEDDRA:10034633", "MEDDRA:10034634", "MEDDRA:10034635", "MEDDRA:10034636", "MEDDRA:10034637", "MEDDRA:10047063", "MEDDRA:10062542", "MEDDRA:10062599", "MEDDRA:10067825", "NCIT:C127821", "NCIT:C35136", "SNOMEDCT:195374003", "SNOMEDCT:2929001", "SNOMEDCT:400047006", "SNOMEDCT:840580004", "medgen:38790", "ICD9:443.81", "HP:0004950"], "information_content": 79.9}
{"id": "MONDO:0008802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antithrombin, familial hemorrhagic diathesis due to", "equivalent_identifiers": ["MONDO:0008802", "OMIM:207300", "UMLS:C1859761", "MESH:C565947", "medgen:347227"], "information_content": 100.0}
{"id": "MONDO:0957822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 22", "equivalent_identifiers": ["MONDO:0957822", "OMIM:620548", "UMLS:C5882707", "medgen:1849005"], "information_content": 100.0}
{"id": "MONDO:0014842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 41", "equivalent_identifiers": ["MONDO:0014842", "DOID:0070071", "OMIM:616944", "UMLS:C4310784", "medgen:934751"], "information_content": 100.0}
{"id": "MONDO:0700301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fischer-Zirnsak progeroid syndrome", "equivalent_identifiers": ["MONDO:0700301", "OMIM:621130"], "information_content": 100.0}
{"id": "MONDO:0033542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 70", "equivalent_identifiers": ["MONDO:0033542", "DOID:0112005", "OMIM:618969", "UMLS:C5436501", "medgen:1740270"], "information_content": 100.0}
{"id": "HP:0020083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Furuncle", "equivalent_identifiers": ["HP:0020083", "NCIT:C99087", "UMLS:C0242301", "MEDDRA:10005914", "MEDDRA:10017553", "SNOMEDCT:416675009", "SNOMEDCT:59843005"], "information_content": 100.0}
{"id": "HP:0033004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar warts", "equivalent_identifiers": ["HP:0033004", "UMLS:C5397992"], "information_content": 100.0}
{"id": "MONDO:0001795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plantar wart", "equivalent_identifiers": ["MONDO:0001795", "DOID:13775", "EFO:1002023", "UMLS:C0042548", "MEDDRA:10035158", "NCIT:C26913", "SNOMEDCT:1296907001", "SNOMEDCT:63440008", "medgen:53003", "ICD10:B07.0", "ICD9:078.12", "HP:0033005"], "information_content": 100.0}
{"id": "MONDO:0014115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelination with brain stem and spinal cord involvement and leg spasticity", "equivalent_identifiers": ["MONDO:0014115", "OMIM:615281", "orphanet:363412", "UMLS:C4755254", "SNOMEDCT:777999008", "medgen:1667792"], "information_content": 100.0}
{"id": "MONDO:0014847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 15", "equivalent_identifiers": ["MONDO:0014847", "DOID:0070172", "OMIM:616950", "UMLS:C4310779", "medgen:934746"], "information_content": 100.0}
{"id": "HP:0030346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating follicle-stimulating hormone concentration", "equivalent_identifiers": ["HP:0030346", "UMLS:C4072891"], "information_content": 92.8}
{"id": "MONDO:0011895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic hypereosinophilic syndrome", "equivalent_identifiers": ["MONDO:0011895", "OMIM:607685", "orphanet:3260", "UMLS:C0206141", "SNOMEDCT:414450004", "SNOMEDCT:423294001", "medgen:61525", "icd11.foundation:703101846"], "information_content": 95.4}
{"id": "MONDO:0014772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 15", "equivalent_identifiers": ["MONDO:0014772", "DOID:0080408", "OMIM:616788", "UMLS:C4225209", "medgen:909661"], "information_content": 100.0}
{"id": "HP:0100271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyponasal speech", "equivalent_identifiers": ["HP:0100271", "UMLS:C4022173"], "information_content": 100.0}
{"id": "HP:0010294", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palate fistula", "equivalent_identifiers": ["HP:0010294", "UMLS:C2032780", "UMLS:C4280385", "MEDDRA:10088077"], "information_content": 100.0}
{"id": "MONDO:0700290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 98", "equivalent_identifiers": ["MONDO:0700290", "OMIM:621124"], "information_content": 100.0}
{"id": "HP:6000135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypospermia", "equivalent_identifiers": ["HP:6000135", "UMLS:C0855521", "UMLS:C1610638", "MEDDRA:10039944", "MEDDRA:10039947", "MEDDRA:10064919"], "information_content": 100.0}
{"id": "HP:0034811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bent sperm flagella", "equivalent_identifiers": ["HP:0034811", "UMLS:C4539788"], "information_content": 100.0}
{"id": "MONDO:0007844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "equivalent_identifiers": ["MONDO:0007844", "DOID:0090083", "OMIM:147950", "UMLS:C1563720", "medgen:289648"], "information_content": 100.0}
{"id": "MONDO:0009457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunoglobulin d level in plasma, low", "equivalent_identifiers": ["MONDO:0009457", "OMIM:242890", "UMLS:C1855761", "medgen:344569"], "information_content": 100.0}
{"id": "MONDO:0010561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Lowry syndrome", "equivalent_identifiers": ["MONDO:0010561", "DOID:3783", "OMIM:303600", "orphanet:192", "UMLS:C0265252", "UMLS:C0795900", "MESH:C536435", "MESH:D038921", "MEDDRA:10081806", "NCIT:C84643", "SNOMEDCT:15182000", "medgen:75556", "icd11.foundation:380089065"], "information_content": 100.0}
{"id": "HP:0430043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic lordosis", "equivalent_identifiers": ["HP:0430043", "UMLS:C1835122"], "information_content": 100.0}
{"id": "HP:0009746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick nasal septum", "equivalent_identifiers": ["HP:0009746", "UMLS:C1844810"], "information_content": 100.0}
{"id": "HP:0001812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperconvex fingernails", "equivalent_identifiers": ["HP:0001812", "UMLS:C1844825"], "information_content": 100.0}
{"id": "MONDO:0016066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sternal cleft", "equivalent_identifiers": ["MONDO:0016066", "orphanet:2017", "UMLS:C0265696", "UMLS:C2931507", "MESH:C537489", "SNOMEDCT:54008006", "medgen:419096", "icd11.foundation:1308914573", "HP:0010309"], "information_content": 95.4}
{"id": "HP:0000139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uterine prolapse", "equivalent_identifiers": ["HP:0000139", "EFO:1001864", "NCIT:C35108", "UMLS:C0042140", "MEDDRA:10046814", "MEDDRA:10090136", "SNOMEDCT:24976005", "MESH:D014596"], "information_content": 89.4}
{"id": "HP:0006129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Drumstick terminal phalanges", "equivalent_identifiers": ["HP:0006129", "UMLS:C1844822"], "information_content": 100.0}
{"id": "MONDO:0010297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FG syndrome 2", "equivalent_identifiers": ["MONDO:0010297", "OMIM:300321", "UMLS:C1845902", "medgen:337461"], "information_content": 100.0}
{"id": "HP:0011246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underdeveloped superior crus of antihelix", "equivalent_identifiers": ["HP:0011246", "UMLS:C4021189"], "information_content": 100.0}
{"id": "MONDO:0013892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C3 glomerulonephritis", "equivalent_identifiers": ["MONDO:0013892", "OMIM:614809", "orphanet:329931", "UMLS:C3553720", "UMLS:C4055342", "MEDDRA:10083794", "NCIT:C123043", "medgen:884569"], "information_content": 95.4}
{"id": "HP:0033493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesangial matrix expansion", "equivalent_identifiers": ["HP:0033493", "UMLS:C3553722"], "information_content": 100.0}
{"id": "HP:0025005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickening of glomerular capillary wall", "equivalent_identifiers": ["HP:0025005", "UMLS:C4293707"], "information_content": 100.0}
{"id": "HP:0012576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C3 nephropathy", "equivalent_identifiers": ["HP:0012576", "UMLS:C4022837", "UMLS:C4476555"], "information_content": 100.0}
{"id": "MONDO:0013428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 2", "equivalent_identifiers": ["MONDO:0013428", "DOID:0080513", "OMIM:613800", "UMLS:C3151097", "medgen:462447"], "information_content": 100.0}
{"id": "MONDO:0020736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uncombable hair syndrome 1", "equivalent_identifiers": ["MONDO:0020736", "OMIM:191480", "UMLS:C4551573", "medgen:1640179"], "information_content": 100.0}
{"id": "MONDO:0008346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "siderosis", "equivalent_identifiers": ["MONDO:0008346", "DOID:10328", "DOID:12118", "OMIM:178550", "orphanet:99931", "UMLS:C0020807", "UMLS:C0037061", "UMLS:C0340176", "UMLS:C5780940", "MESH:D000097545", "MESH:D012806", "MEDDRA:10021241", "MEDDRA:10021242", "MEDDRA:10037396", "MEDDRA:10037399", "MEDDRA:10085555", "NCIT:C197968", "SNOMEDCT:40527005", "SNOMEDCT:62371005", "medgen:9403", "icd11.foundation:1542272036", "ICD10:J63.4", "ICD10:J84.03", "ICD9:516.1"], "information_content": 89.4}
{"id": "HP:0005828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient pulmonary infiltrates", "equivalent_identifiers": ["HP:0005828", "UMLS:C3805920"], "information_content": 100.0}
{"id": "HP:0006535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent intrapulmonary hemorrhage", "equivalent_identifiers": ["HP:0006535", "UMLS:C3805919"], "information_content": 100.0}
{"id": "MONDO:0030423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type 2v", "equivalent_identifiers": ["MONDO:0030423", "DOID:0051050", "OMIM:619493", "UMLS:C5561971", "medgen:1794181"], "information_content": 100.0}
{"id": "MONDO:0030071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 89", "equivalent_identifiers": ["MONDO:0030071", "DOID:0112146", "OMIM:618955", "UMLS:C5394552", "medgen:1710499"], "information_content": 100.0}
{"id": "HP:0030473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal light-adapted flicker electroretinogram", "equivalent_identifiers": ["HP:0030473", "UMLS:C4072963"], "information_content": 92.8}
{"id": "MONDO:0008458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 2", "equivalent_identifiers": ["MONDO:0008458", "DOID:0050955", "DOID:0060204", "OMIM:183090", "orphanet:98756", "UMLS:C0752121", "NCIT:C148315", "SNOMEDCT:715751004", "medgen:155704", "icd11.foundation:1232187870"], "information_content": 95.4}
{"id": "MONDO:0009696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile myoclonic epilepsy", "equivalent_identifiers": ["MONDO:0009696", "DOID:4890", "OMIM:254770", "OMIM.PS:254770", "orphanet:307", "UMLS:C0270853", "MESH:D020190", "MEDDRA:10071082", "NCIT:C84796", "SNOMEDCT:6204001", "medgen:78738", "icd11.foundation:1014397110"], "information_content": 85.5}
{"id": "HP:0007000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Morning myoclonic jerks", "equivalent_identifiers": ["HP:0007000", "UMLS:C1847164"], "information_content": 100.0}
{"id": "MONDO:0030362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 9", "equivalent_identifiers": ["MONDO:0030362", "OMIM:619487", "UMLS:C5561966", "medgen:1794176"], "information_content": 100.0}
{"id": "HP:0032263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased blood pressure", "equivalent_identifiers": ["HP:0032263"], "information_content": 71.6}
{"id": "MONDO:0008796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia-renal agenesis-psychomotor retardation syndrome", "equivalent_identifiers": ["MONDO:0008796", "OMIM:206750", "orphanet:1064", "UMLS:C1859782", "UMLS:C4518585", "MESH:C000598722", "MESH:C000632444", "SNOMEDCT:733116005", "medgen:347952"], "information_content": 100.0}
{"id": "MONDO:0007406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryofibrinogenemia, familial primary", "equivalent_identifiers": ["MONDO:0007406", "OMIM:123540", "UMLS:C1852457", "MESH:C565142", "medgen:377679"], "information_content": 100.0}
{"id": "HP:0008695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient nephrotic syndrome", "equivalent_identifiers": ["HP:0008695", "UMLS:C4024638"], "information_content": 100.0}
{"id": "MONDO:0044777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 14", "equivalent_identifiers": ["MONDO:0044777", "DOID:0080871", "OMIM:618014", "UMLS:C4693941", "medgen:1646133"], "information_content": 100.0}
{"id": "MONDO:0012500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chilblain lupus 1", "equivalent_identifiers": ["MONDO:0012500", "OMIM:610448", "UMLS:C0024145", "MESH:C535924", "medgen:9822"], "information_content": 100.0}
{"id": "MONDO:0014467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease recessive intermediate D", "equivalent_identifiers": ["MONDO:0014467", "DOID:0110203", "OMIM:616039", "orphanet:435998", "UMLS:C5569027", "SNOMEDCT:1187567002", "medgen:1800450"], "information_content": 100.0}
{"id": "MONDO:0014233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset Parkinson disease 20", "equivalent_identifiers": ["MONDO:0014233", "DOID:0060898", "OMIM:615530", "UMLS:C3809824", "NCIT:C203535", "medgen:816154"], "information_content": 100.0}
{"id": "HP:0025401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Staring gaze", "equivalent_identifiers": ["HP:0025401", "UMLS:C3809827"], "information_content": 100.0}
{"id": "MONDO:0012928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 42", "equivalent_identifiers": ["MONDO:0012928", "DOID:0110794", "OMIM:612539", "orphanet:171863", "UMLS:C2675528", "MESH:C567262", "SNOMEDCT:763070001", "medgen:393407"], "information_content": 100.0}
{"id": "MONDO:0008580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toes, space between first and second", "equivalent_identifiers": ["MONDO:0008580", "OMIM:189230", "UMLS:C1861058", "medgen:348253"], "information_content": 100.0}
{"id": "MONDO:0011021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal intestinal dysplasia, type B", "equivalent_identifiers": ["MONDO:0011021", "DOID:0080680", "OMIM:601223", "UMLS:C1832589", "medgen:318658"], "information_content": 100.0}
{"id": "MONDO:0009309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1", "equivalent_identifiers": ["MONDO:0009309", "DOID:0070192", "OMIM:233700", "UMLS:C1856251", "MESH:C565532", "NCIT:C154314", "medgen:341102"], "information_content": 100.0}
{"id": "MONDO:0019558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "discoid lupus erythematosus", "equivalent_identifiers": ["MONDO:0019558", "orphanet:90281", "UMLS:C0024138", "UMLS:C5574816", "MESH:D008179", "MEDDRA:10013071", "MEDDRA:10013072", "MEDDRA:10025132", "MEDDRA:10025137", "MEDDRA:10025138", "MEDDRA:10057929", "NCIT:C26820", "SNOMEDCT:200938002", "SNOMEDCT:238927000", "medgen:1811126", "icd11.foundation:2144907708", "HP:0007417"], "information_content": 100.0}
{"id": "MONDO:0020920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "escherichia coli infection", "equivalent_identifiers": ["MONDO:0020920", "EFO:1001318", "UMLS:C0014836", "MESH:D004927", "MEDDRA:10054242", "NCIT:C34594", "SNOMEDCT:71057007", "medgen:4543", "HP:0002740"], "information_content": 92.8}
{"id": "HP:0002741", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent Serratia marcescens infections", "equivalent_identifiers": ["HP:0002741", "UMLS:C4025682"], "information_content": 100.0}
{"id": "MONDO:0700051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liver Abscess", "equivalent_identifiers": ["MONDO:0700051", "UMLS:C0023885", "MESH:D008100", "MEDDRA:10000300", "MEDDRA:10024652", "NCIT:C99089", "SNOMEDCT:27916005", "HP:0100523"], "information_content": 95.4}
{"id": "HP:0003206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased activity of NADPH oxidase", "equivalent_identifiers": ["HP:0003206", "UMLS:C1844394"], "information_content": 100.0}
{"id": "HP:0005406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent bacterial skin infections", "equivalent_identifiers": ["HP:0005406", "UMLS:C1835686"], "information_content": 81.7}
{"id": "HP:0002724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent Aspergillus infections", "equivalent_identifiers": ["HP:0002724", "UMLS:C4021752"], "information_content": 100.0}
{"id": "HP:0002742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent Klebsiella infections", "equivalent_identifiers": ["HP:0002742", "UMLS:C4021751"], "information_content": 100.0}
{"id": "HP:0002842", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent Burkholderia cepacia infections", "equivalent_identifiers": ["HP:0002842", "UMLS:C4025673"], "information_content": 100.0}
{"id": "MONDO:0044316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia, anemia, and myelofibrosis", "equivalent_identifiers": ["MONDO:0044316", "OMIM:617441", "UMLS:C4479504", "medgen:1378448"], "information_content": 100.0}
{"id": "MONDO:0008333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoxanthoma elasticum, forme fruste", "equivalent_identifiers": ["MONDO:0008333", "OMIM:177850", "UMLS:C1867450", "UMLS:C1867451", "MESH:C566744", "medgen:357280"], "information_content": 100.0}
{"id": "HP:0025533", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peau d'orange", "equivalent_identifiers": ["HP:0025533", "NCIT:C7740", "UMLS:C0425791", "MEDDRA:10049752", "SNOMEDCT:87386002"], "information_content": 86.3}
{"id": "HP:0005297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature occlusive vascular stenosis", "equivalent_identifiers": ["HP:0005297", "UMLS:C1867457", "UMLS:C4531299"], "information_content": 100.0}
{"id": "HP:0012457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medial calcification of medium-sized arteries", "equivalent_identifiers": ["HP:0012457", "UMLS:C4022895"], "information_content": 100.0}
{"id": "MONDO:0002277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriosclerosis disorder", "equivalent_identifiers": ["MONDO:0002277", "DOID:2348", "DOID:2349", "EFO:0009086", "UMLS:C0003850", "UMLS:C3665365", "UMLS:C4280568", "MESH:D001161", "MEDDRA:10003210", "MEDDRA:10051614", "NCIT:C34398", "NCIT:C34403", "SNOMEDCT:107671003", "SNOMEDCT:28960008", "SNOMEDCT:72092001", "medgen:2076", "HP:0002634"], "information_content": 76.7}
{"id": "HP:0004966", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medial calcification of large arteries", "equivalent_identifiers": ["HP:0004966", "UMLS:C4025265"], "information_content": 100.0}
{"id": "HP:0025507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yellow papule", "equivalent_identifiers": ["HP:0025507", "UMLS:C2033396", "UMLS:C4476817"], "information_content": 100.0}
{"id": "MONDO:0030355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy 4, digenic", "equivalent_identifiers": ["MONDO:0030355", "DOID:0060918", "OMIM:619478", "UMLS:C5561960", "medgen:1794170"], "information_content": 100.0}
{"id": "HP:0008675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged polycystic ovaries", "equivalent_identifiers": ["HP:0008675", "UMLS:C4024641"], "information_content": 100.0}
{"id": "MONDO:0032903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum", "equivalent_identifiers": ["MONDO:0032903", "DOID:0080980", "OMIM:618766", "UMLS:C5231494", "medgen:1684706"], "information_content": 100.0}
{"id": "MONDO:0007912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lithium transport", "equivalent_identifiers": ["MONDO:0007912", "OMIM:152420", "UMLS:C1835356", "medgen:331956"], "information_content": 100.0}
{"id": "MONDO:0014229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, syndromic 12", "equivalent_identifiers": ["MONDO:0014229", "DOID:0111800", "OMIM:615524", "orphanet:689829", "UMLS:C3809803", "medgen:816133"], "information_content": 100.0}
{"id": "HP:0005156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic left atrium", "equivalent_identifiers": ["HP:0005156", "UMLS:C1970625"], "information_content": 95.4}
{"id": "MONDO:0007083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia", "equivalent_identifiers": ["MONDO:0007083", "DOID:0111244", "OMIM:104100", "orphanet:1010", "UMLS:C4304669", "SNOMEDCT:719518004", "medgen:930338", "icd11.foundation:1745113656"], "information_content": 100.0}
{"id": "HP:0025493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmoplantar erythema", "equivalent_identifiers": ["HP:0025493", "UMLS:C4476809"], "information_content": 100.0}
{"id": "MONDO:0013159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "equivalent_identifiers": ["MONDO:0013159", "DOID:0050588", "OMIM:613155", "UMLS:C5436962", "medgen:1774807"], "information_content": 100.0}
{"id": "MONDO:0008380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinoblastoma", "equivalent_identifiers": ["MONDO:0008380", "DOID:4648", "DOID:768", "OMIM:180200", "orphanet:790", "UMLS:C0035335", "UMLS:C0751483", "MESH:D012175", "MEDDRA:10038916", "MEDDRA:10038918", "NCIT:C7541", "NCIT:C8495", "SNOMEDCT:19906005", "SNOMEDCT:370967009", "medgen:20552", "icd11.foundation:1855353671", "HP:0009919"], "information_content": 75.0}
{"id": "MONDO:0024890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pinealoma", "equivalent_identifiers": ["MONDO:0024890", "UMLS:C0031941", "MESH:D010871", "MEDDRA:10035053", "MEDDRA:10035057", "MEDDRA:10061348", "NCIT:C6965", "SNOMEDCT:127026004", "SNOMEDCT:359619007", "HP:0010799"], "information_content": 77.8}
{"id": "MONDO:0012817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ewing sarcoma", "equivalent_identifiers": ["MONDO:0012817", "DOID:3369", "OMIM:612219", "orphanet:319", "EFO:0000174", "UMLS:C0553580", "UMLS:C0796547", "UMLS:C0863029", "UMLS:C1334408", "MESH:D012512", "MEDDRA:10015560", "MEDDRA:10015561", "MEDDRA:10015563", "MEDDRA:10015565", "MEDDRA:10015566", "MEDDRA:10015567", "MEDDRA:10015570", "MEDDRA:10058254", "MEDDRA:10062425", "NCIT:C27901", "NCIT:C27903", "NCIT:C4817", "NCIT:C7806", "SNOMEDCT:76909002", "medgen:107816", "icd11.foundation:458106328", "HP:0012254"], "information_content": 78.5}
{"id": "HP:0007862", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal calcification", "equivalent_identifiers": ["HP:0007862", "UMLS:C1867289"], "information_content": 95.4}
{"id": "HP:0000555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leukocoria", "equivalent_identifiers": ["HP:0000555", "UMLS:C0152458", "MEDDRA:10024276", "MEDDRA:10053150", "SNOMEDCT:1361009"], "information_content": 100.0}
{"id": "MONDO:0015022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with dysmorphic facies and ptosis", "equivalent_identifiers": ["MONDO:0015022", "OMIM:617333", "EFO:0009070", "UMLS:C4310617", "medgen:934584"], "information_content": 100.0}
{"id": "MONDO:0054813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, classic-like, 2", "equivalent_identifiers": ["MONDO:0054813", "DOID:0080732", "OMIM:618000", "orphanet:536532", "UMLS:C4693870", "SNOMEDCT:1255121003", "medgen:1632001"], "information_content": 100.0}
{"id": "HP:0031158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened atrophic scar", "equivalent_identifiers": ["HP:0031158", "UMLS:C4477010"], "information_content": 100.0}
{"id": "HP:0034943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased dermal collagen", "equivalent_identifiers": ["HP:0034943", "UMLS:C4693889"], "information_content": 100.0}
{"id": "HP:0030871", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facet joint arthrosis", "equivalent_identifiers": ["HP:0030871", "UMLS:C4280734"], "information_content": 100.0}
{"id": "MONDO:0002471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bursitis", "equivalent_identifiers": ["MONDO:0002471", "DOID:2965", "UMLS:C0006444", "MESH:D002062", "MEDDRA:10006809", "MEDDRA:10006811", "NCIT:C94407", "SNOMEDCT:84017003", "medgen:691", "icd11.foundation:1984620329", "ICD10:M71.9", "HP:0025232"], "information_content": 88.2}
{"id": "HP:0010810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long uvula", "equivalent_identifiers": ["HP:0010810", "UMLS:C4023697", "UMLS:C4280362", "MEDDRA:10077637"], "information_content": 100.0}
{"id": "MONDO:0007864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioosteohypertrophic syndrome", "equivalent_identifiers": ["MONDO:0007864", "DOID:2926", "OMIM:149000", "orphanet:2346", "orphanet:90308", "UMLS:C0022739", "UMLS:C5848351", "MESH:D007715", "MEDDRA:10051452", "MEDDRA:10056915", "NCIT:C84801", "SNOMEDCT:721105004", "SNOMEDCT:723991007", "medgen:9646", "icd11.foundation:1561120378"], "information_content": 100.0}
{"id": "MONDO:0005570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hematologic disorder", "equivalent_identifiers": ["MONDO:0005570", "DOID:74", "orphanet:97992", "EFO:0005803", "UMLS:C0018939", "UMLS:C0850715", "UMLS:C1533163", "UMLS:C4020864", "MESH:D006402", "MEDDRA:10005493", "MEDDRA:10005495", "MEDDRA:10005496", "MEDDRA:10013895", "MEDDRA:10018847", "MEDDRA:10061590", "NCIT:C26323", "SNOMEDCT:191124002", "SNOMEDCT:34093004", "SNOMEDCT:414022008", "medgen:5483", "ICD10:D75.9", "ICD9:289.9", "HP:0001871"], "information_content": 44.6}
{"id": "MONDO:0002013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphangioma", "equivalent_identifiers": ["MONDO:0002013", "DOID:1475", "orphanet:2415", "UMLS:C0024221", "MESH:D008202", "MEDDRA:10025219", "MEDDRA:10025220", "NCIT:C8965", "SNOMEDCT:253057002", "SNOMEDCT:254836000", "SNOMEDCT:400178008", "SNOMEDCT:69044001", "medgen:6153", "ICD10:D18.1", "ICD9:228.1", "HP:0100764"], "information_content": 79.6}
{"id": "MONDO:0020296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital arteriovenous fistula", "equivalent_identifiers": ["MONDO:0020296", "orphanet:98731", "UMLS:C0003855", "UMLS:C0332965", "MESH:D001164", "MEDDRA:10003226", "MEDDRA:10010374", "MEDDRA:10016719", "NCIT:C35377", "NCIT:C36192", "SNOMEDCT:128617001", "SNOMEDCT:234148007", "SNOMEDCT:439470001", "medgen:137676", "HP:0004947"], "information_content": 90.9}
{"id": "HP:0005606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpigmented nevi and streak", "equivalent_identifiers": ["HP:0005606", "UMLS:C3805692"], "information_content": 100.0}
{"id": "MONDO:0011460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 6", "equivalent_identifiers": ["MONDO:0011460", "DOID:0110075", "OMIM:604401", "UMLS:C1858378", "MESH:C565775", "medgen:346892"], "information_content": 100.0}
{"id": "MONDO:0012504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CATSHL syndrome", "equivalent_identifiers": ["MONDO:0012504", "DOID:0111160", "OMIM:610474", "orphanet:85164", "UMLS:C1864852", "MESH:C537975", "SNOMEDCT:720601000", "medgen:355844"], "information_content": 100.0}
{"id": "HP:0006417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide femoral metaphysis", "equivalent_identifiers": ["HP:0006417", "UMLS:C1864854"], "information_content": 92.8}
{"id": "HP:0030431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteochondroma", "equivalent_identifiers": ["HP:0030431", "EFO:1000411", "NCIT:C3295", "UMLS:C0029423", "MEDDRA:10059587", "MEDDRA:10086259", "SNOMEDCT:307573009", "SNOMEDCT:443093007", "SNOMEDCT:52299001", "MESH:D015831"], "information_content": 81.7}
{"id": "MONDO:0014453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 36", "equivalent_identifiers": ["MONDO:0014453", "DOID:0111949", "OMIM:616005", "UMLS:C4014934", "NCIT:C176703", "medgen:863371"], "information_content": 100.0}
{"id": "MONDO:0014766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy and acquired microcephaly with or without dystonia;", "equivalent_identifiers": ["MONDO:0014766", "OMIM:616763", "UMLS:C4225213", "medgen:908888"], "information_content": 100.0}
{"id": "HP:0007204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse white matter abnormalities", "equivalent_identifiers": ["HP:0007204", "UMLS:C4024923"], "information_content": 92.8}
{"id": "MONDO:0010817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 2A", "equivalent_identifiers": ["MONDO:0010817", "DOID:0110558", "OMIM:600101", "UMLS:C2677637", "MESH:C567441", "medgen:436997"], "information_content": 100.0}
{"id": "MONDO:0010336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome VIII", "equivalent_identifiers": ["MONDO:0010336", "DOID:0060378", "OMIM:300484", "orphanet:2755", "UMLS:C0796101", "MESH:C557820", "SNOMEDCT:722106001", "medgen:208667"], "information_content": 100.0}
{"id": "HP:0005349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the epiglottis", "equivalent_identifiers": ["HP:0005349", "UMLS:C1396772"], "information_content": 95.4}
{"id": "MONDO:0011448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PPARG-related familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0011448", "DOID:0070204", "OMIM:604367", "orphanet:79083", "UMLS:C1720861", "SNOMEDCT:1197745002", "medgen:328393"], "information_content": 100.0}
{"id": "HP:0009017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of gluteal subcutaneous adipose tissue", "equivalent_identifiers": ["HP:0009017", "UMLS:C4024606"], "information_content": 100.0}
{"id": "MONDO:0007105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "equivalent_identifiers": ["MONDO:0007105", "DOID:0060213", "OMIM:105550", "UMLS:C5779877", "NCIT:C168756", "medgen:1830423"], "information_content": 100.0}
{"id": "HP:0002361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Psychomotor deterioration", "equivalent_identifiers": ["HP:0002361", "UMLS:C1836842"], "information_content": 100.0}
{"id": "HP:0100709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduction of oligodendroglia", "equivalent_identifiers": ["HP:0100709", "UMLS:C4021852"], "information_content": 100.0}
{"id": "HP:0002478", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive spastic quadriplegia", "equivalent_identifiers": ["HP:0002478", "UMLS:C1859736"], "information_content": 100.0}
{"id": "MONDO:0013598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myostatin-related muscle hypertrophy", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013598", "DOID:0111072", "OMIM:614160", "UMLS:C2931112", "MESH:C536106", "SNOMEDCT:699185005", "medgen:418994"], "information_content": 100.0}
{"id": "MONDO:0014767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 9", "equivalent_identifiers": ["MONDO:0014767", "DOID:0070005", "OMIM:616777", "UMLS:C4225212", "medgen:907155"], "information_content": 100.0}
{"id": "MONDO:0033551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 72 with autoinflammation", "equivalent_identifiers": ["MONDO:0033551", "DOID:0112015", "OMIM:618982", "UMLS:C5436540", "medgen:1749856"], "information_content": 100.0}
{"id": "HP:0032184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased memory T cell proportion", "equivalent_identifiers": ["HP:0032184", "UMLS:C5139181"], "information_content": 86.3}
{"id": "MONDO:0008665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tucker syndrome", "equivalent_identifiers": ["MONDO:0008665", "OMIM:193240", "orphanet:2997", "UMLS:C1860403", "MESH:C536923", "SNOMEDCT:771263004", "medgen:349807"], "information_content": 100.0}
{"id": "MONDO:0012503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thiopurine S-methyltransferase deficiency", "equivalent_identifiers": ["MONDO:0012503", "DOID:0061004", "DOID:0080172", "OMIM:610460", "UMLS:C0342801", "MESH:C536512", "NCIT:C4389", "SNOMEDCT:238012003", "medgen:83352", "icd11.foundation:1916778396"], "information_content": 84.2}
{"id": "MONDO:0859147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marbach-Rustad progeroid syndrome", "equivalent_identifiers": ["MONDO:0859147", "OMIM:619322", "orphanet:659873", "UMLS:C5543388", "medgen:1784907"], "information_content": 100.0}
{"id": "HP:0031846", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femur fracture", "equivalent_identifiers": ["HP:0031846", "EFO:0008553", "NCIT:C26774", "UMLS:C0015802", "MEDDRA:10016454", "MEDDRA:10017083", "SNOMEDCT:71620000", "MESH:D005264"], "information_content": 95.4}
{"id": "HP:0001788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature rupture of membranes", "equivalent_identifiers": ["HP:0001788", "NCIT:C87113", "UMLS:C0015944", "MEDDRA:10036603", "SNOMEDCT:237266003", "SNOMEDCT:44223004", "MESH:D005322"], "information_content": 92.8}
{"id": "MONDO:0008911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac lipidosis, familial", "equivalent_identifiers": ["MONDO:0008911", "OMIM:212080", "UMLS:C1859332", "MESH:C565884", "medgen:395234"], "information_content": 100.0}
{"id": "MONDO:0014226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic CD4 lymphocytopenia", "equivalent_identifiers": ["MONDO:0014226", "DOID:0111987", "OMIM:615518", "orphanet:228000", "UMLS:C3809768", "UMLS:C4706550", "MEDDRA:10083934", "SNOMEDCT:763713000", "medgen:816098", "icd11.foundation:1639000446"], "information_content": 100.0}
{"id": "HP:0032275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent shingles", "equivalent_identifiers": ["HP:0032275", "UMLS:C3809776"], "information_content": 100.0}
{"id": "MONDO:0024547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic agenesis 1", "equivalent_identifiers": ["MONDO:0024547", "DOID:0061003", "OMIM:260370", "UMLS:C3891828", "medgen:856095"], "information_content": 100.0}
{"id": "HP:0000857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal insulin-dependent diabetes mellitus", "equivalent_identifiers": ["HP:0000857", "UMLS:C3278636"], "information_content": 95.4}
{"id": "MONDO:0014104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4", "equivalent_identifiers": ["MONDO:0014104", "DOID:0070559", "OMIM:615268", "UMLS:C3808977", "medgen:815307"], "information_content": 100.0}
{"id": "HP:0009878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar ataxia associated with quadrupedal gait", "equivalent_identifiers": ["HP:0009878", "UMLS:C4024175"], "information_content": 100.0}
{"id": "MONDO:0044204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shwachman-Diamond syndrome 1", "equivalent_identifiers": ["MONDO:0044204", "OMIM:260400", "UMLS:C4692625", "medgen:1640046"], "information_content": 100.0}
{"id": "HP:0003411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal femoral metaphyseal irregularity", "equivalent_identifiers": ["HP:0003411", "UMLS:C1836320"], "information_content": 100.0}
{"id": "HP:0006598", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular ossification at anterior rib ends", "equivalent_identifiers": ["HP:0006598", "UMLS:C1850083"], "information_content": 100.0}
{"id": "HP:0001700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myocardial necrosis", "equivalent_identifiers": ["HP:0001700", "UMLS:C1442837", "MEDDRA:10007643", "MEDDRA:10028602", "MEDDRA:10028870", "SNOMEDCT:251061000"], "information_content": 79.3}
{"id": "MONDO:0010337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome", "equivalent_identifiers": ["MONDO:0010337", "DOID:0080311", "OMIM:300486", "orphanet:137831", "UMLS:C1845366", "UMLS:C4304937", "MESH:C537456", "SNOMEDCT:719136005", "medgen:336920"], "information_content": 100.0}
{"id": "HP:0007065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disorganization of the anterior cerebellar vermis", "equivalent_identifiers": ["HP:0007065", "UMLS:C1845369"], "information_content": 100.0}
{"id": "HP:0000744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low frustration tolerance", "equivalent_identifiers": ["HP:0000744", "UMLS:C0548883"], "information_content": 100.0}
{"id": "MONDO:0030338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anencephaly 2", "equivalent_identifiers": ["MONDO:0030338", "OMIM:619452", "UMLS:C5561945", "medgen:1794155"], "information_content": 100.0}
{"id": "HP:0010289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft maxillary alveolar ridge", "equivalent_identifiers": ["HP:0010289", "UMLS:C1398533", "UMLS:C2919907", "UMLS:C4280386", "SNOMEDCT:445306000"], "information_content": 89.4}
{"id": "MONDO:0030281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 6", "equivalent_identifiers": ["MONDO:0030281", "DOID:0070336", "OMIM:619334", "UMLS:C5543431", "medgen:1786758"], "information_content": 100.0}
{"id": "MONDO:0014455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0014455", "OMIM:616007", "orphanet:436174", "UMLS:C4014942", "SNOMEDCT:1220595008", "medgen:863379"], "information_content": 100.0}
{"id": "MONDO:0043370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary adrenal insufficiency", "equivalent_identifiers": ["MONDO:0043370", "UMLS:C0271738", "UMLS:C0948387", "MEDDRA:10039807", "MEDDRA:10052382", "NCIT:C62602", "SNOMEDCT:16685009", "medgen:184925", "HP:0011734"], "information_content": 89.4}
{"id": "MONDO:0012506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 11", "equivalent_identifiers": ["MONDO:0012506", "DOID:0110082", "OMIM:610476", "UMLS:C1864850", "UMLS:C4310824", "MESH:C566471", "medgen:351237"], "information_content": 100.0}
{"id": "MONDO:0008673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis, Weyers type", "equivalent_identifiers": ["MONDO:0008673", "DOID:0111571", "OMIM:193530", "orphanet:952", "UMLS:C0457013", "MESH:C536695", "SNOMEDCT:277807007", "medgen:141594", "icd11.foundation:547338814"], "information_content": 100.0}
{"id": "MONDO:0015017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 8", "equivalent_identifiers": ["MONDO:0015017", "DOID:0080613", "OMIM:617319", "orphanet:519388", "UMLS:C4310622", "SNOMEDCT:1197358003", "medgen:934589"], "information_content": 100.0}
{"id": "HP:0012376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microphakia", "equivalent_identifiers": ["HP:0012376", "UMLS:C0266541", "SNOMEDCT:35272001"], "information_content": 100.0}
{"id": "HP:0012040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal stromal edema", "equivalent_identifiers": ["HP:0012040", "NCIT:C50859", "UMLS:C0474444", "MEDDRA:10054772", "MEDDRA:10054780", "SNOMEDCT:373430008"], "information_content": 100.0}
{"id": "MONDO:0011461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus, type 2", "equivalent_identifiers": ["MONDO:0011461", "DOID:0111294", "OMIM:604403", "UMLS:C1858673", "MESH:C565810", "medgen:388117"], "information_content": 100.0}
{"id": "MONDO:0011178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile convulsions and choreoathetosis", "equivalent_identifiers": ["MONDO:0011178", "OMIM:602066", "orphanet:31709", "UMLS:C1865926", "MESH:C535522", "NCIT:C126650", "SNOMEDCT:715534008", "medgen:356123"], "information_content": 100.0}
{"id": "MONDO:0015427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal dyskinesia", "equivalent_identifiers": ["MONDO:0015427", "orphanet:1431", "UMLS:C1851936", "MEDDRA:10065657", "SNOMEDCT:49949003", "medgen:156242", "HP:0007098"], "information_content": 84.2}
{"id": "MONDO:0006892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aura", "equivalent_identifiers": ["MONDO:0006892", "DOID:3330", "EFO:1001090", "UMLS:C0236018", "UMLS:C0544645", "UMLS:C0752322", "MESH:D020937", "MEDDRA:10003791", "MEDDRA:10051375", "MEDDRA:10088258", "SNOMEDCT:1281839006", "SNOMEDCT:18618006", "medgen:107460", "HP:0011157"], "information_content": 78.3}
{"id": "MONDO:0023657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 65", "equivalent_identifiers": ["MONDO:0023657", "DOID:0061038", "OMIM:619320", "UMLS:C5543371", "medgen:1787923"], "information_content": 100.0}
{"id": "MONDO:0010821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial developmental dysphasia", "equivalent_identifiers": ["MONDO:0010821", "OMIM:600117", "orphanet:1799", "UMLS:C1838630", "MESH:C563997", "SNOMEDCT:721220004", "medgen:374015"], "information_content": 100.0}
{"id": "MONDO:0011890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1D", "equivalent_identifiers": ["MONDO:0011890", "DOID:0110150", "OMIM:607678", "orphanet:101084", "UMLS:C1843247", "MESH:C537985", "SNOMEDCT:719979008", "medgen:334709", "icd11.foundation:2062905967"], "information_content": 100.0}
{"id": "MONDO:0859170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal dystrophy and microvillus inclusion disease", "equivalent_identifiers": ["MONDO:0859170", "OMIM:619446", "UMLS:C5561943", "medgen:1794153"], "information_content": 100.0}
{"id": "MONDO:0012916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 2p16.1-p15 deletion syndrome", "equivalent_identifiers": ["MONDO:0012916", "DOID:0060415", "OMIM:612513", "orphanet:261349", "UMLS:C2675875", "UMLS:C4304538", "MESH:C567289", "SNOMEDCT:719651000", "medgen:390902"], "information_content": 100.0}
{"id": "MONDO:0013599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome", "equivalent_identifiers": ["MONDO:0013599", "DOID:0111946", "OMIM:614162", "orphanet:391487", "UMLS:C3279990", "NCIT:C172099", "medgen:481620"], "information_content": 100.0}
{"id": "HP:0033608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nodule of lung", "equivalent_identifiers": ["HP:0033608", "NCIT:C122407", "UMLS:C0034079", "MEDDRA:10049498", "SNOMEDCT:786838002"], "information_content": 77.6}
{"id": "HP:0032257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disseminated histoplasmosis", "equivalent_identifiers": ["HP:0032257", "UMLS:C0343900", "MEDDRA:10013440", "MEDDRA:10020144"], "information_content": 100.0}
{"id": "MONDO:0016129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic gastroenteritis", "equivalent_identifiers": ["MONDO:0016129", "DOID:4031", "orphanet:2070", "UMLS:C1262481", "MEDDRA:10017902", "NCIT:C35330", "SNOMEDCT:359804008", "medgen:220382", "ICD9:558.41", "HP:0032064"], "information_content": 87.2}
{"id": "MONDO:0005706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coccidioidomycosis", "equivalent_identifiers": ["MONDO:0005706", "DOID:13450", "orphanet:228123", "EFO:0007211", "UMLS:C0009186", "UMLS:C0700644", "MESH:D003047", "MEDDRA:10009822", "MEDDRA:10009824", "MEDDRA:10009825", "MEDDRA:10009826", "MEDDRA:10036691", "MEDDRA:10067094", "MEDDRA:10081374", "NCIT:C84642", "SNOMEDCT:23247008", "SNOMEDCT:60826002", "medgen:3137", "icd11.foundation:132287989", "ICD10:B38", "ICD9:114", "HP:0032249"], "information_content": 100.0}
{"id": "HP:0031382", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased anti-CD3/28-induced T-cell proliferation", "equivalent_identifiers": ["HP:0031382", "UMLS:C4531165"], "information_content": 100.0}
{"id": "MONDO:0007931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitelliform macular dystrophy 2", "equivalent_identifiers": ["MONDO:0007931", "OMIM:153700", "orphanet:1243", "UMLS:C2675055", "UMLS:C2745945", "MESH:C567187", "MEDDRA:10074149", "SNOMEDCT:763387005", "medgen:411553"], "information_content": 100.0}
{"id": "HP:0031526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subretinal fluid", "equivalent_identifiers": ["HP:0031526", "UMLS:C1720732", "MEDDRA:10069356", "SNOMEDCT:421843005"], "information_content": 100.0}
{"id": "MONDO:0054577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bleeding disorder, platelet-type, 21", "equivalent_identifiers": ["MONDO:0054577", "OMIM:617443", "UMLS:C4479515", "medgen:1386863"], "information_content": 100.0}
{"id": "MONDO:0032906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 82, autosomal recessive", "equivalent_identifiers": ["MONDO:0032906", "DOID:0112343", "OMIM:618770", "orphanet:631073", "UMLS:C5394037", "medgen:1710411"], "information_content": 100.0}
{"id": "MONDO:0009987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive pericentral pigmentary retinopathy", "equivalent_identifiers": ["MONDO:0009987", "DOID:0110422", "OMIM:268060", "UMLS:C1849398", "MESH:C564838", "medgen:340314", "HP:0007947"], "information_content": 100.0}
{"id": "MONDO:0013331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor 5 and Factor VIII, combined deficiency of, 2", "equivalent_identifiers": ["MONDO:0013331", "OMIM:613625", "UMLS:C3150889", "medgen:462239"], "information_content": 100.0}
{"id": "MONDO:0011104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 3 multiple types", "equivalent_identifiers": ["MONDO:0011104", "DOID:0110269", "OMIM:601547", "UMLS:C1832175", "MESH:C563294", "medgen:321901"], "information_content": 100.0}
{"id": "MONDO:0010948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 10 multiple types", "equivalent_identifiers": ["MONDO:0010948", "DOID:0110258", "OMIM:600881", "UMLS:C1833229", "MESH:C563435", "medgen:318817"], "information_content": 100.0}
{"id": "MONDO:0011781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 17", "equivalent_identifiers": ["MONDO:0011781", "DOID:0050967", "OMIM:607136", "orphanet:98759", "UMLS:C1833995", "UMLS:C1846707", "MESH:C563505", "MESH:C564616", "MESH:C565866", "NCIT:C179861", "SNOMEDCT:719249005", "medgen:337637", "icd11.foundation:1173627424"], "information_content": 100.0}
{"id": "HP:0007668", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired pursuit initiation and maintenance", "equivalent_identifiers": ["HP:0007668", "UMLS:C1969722"], "information_content": 100.0}
{"id": "MONDO:0011107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypotrichosis with juvenile macular dystrophy", "equivalent_identifiers": ["MONDO:0011107", "DOID:0110711", "OMIM:601553", "orphanet:1573", "UMLS:C1832162", "MESH:C537698", "medgen:316921"], "information_content": 100.0}
{"id": "HP:0031528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subretinal deposits", "equivalent_identifiers": ["HP:0031528", "UMLS:C4531024"], "information_content": 92.8}
{"id": "HP:0032497", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced terminal:vellus ratio", "equivalent_identifiers": ["HP:0032497", "UMLS:C5139385"], "information_content": 100.0}
{"id": "HP:0410400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent sebaceous glands", "equivalent_identifiers": ["HP:0410400", "UMLS:C5139558"], "information_content": 89.4}
{"id": "HP:0011509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular hyperpigmentation", "equivalent_identifiers": ["HP:0011509", "UMLS:C0745109"], "information_content": 95.4}
{"id": "MONDO:0013161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "equivalent_identifiers": ["MONDO:0013161", "DOID:0110292", "OMIM:613157", "orphanet:206564", "UMLS:C3150417", "SNOMEDCT:725043006", "medgen:461767"], "information_content": 100.0}
{"id": "MONDO:0011588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 12", "equivalent_identifiers": ["MONDO:0011588", "DOID:0111058", "OMIM:605735", "UMLS:C2751535", "MESH:C567786", "medgen:414043"], "information_content": 100.0}
{"id": "MONDO:0011880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "candidiasis, familial, 3", "equivalent_identifiers": ["MONDO:0011880", "OMIM:607644", "UMLS:C1843306", "MESH:C564361", "medgen:335927"], "information_content": 100.0}
{"id": "HP:0008396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic monilial nail infection", "equivalent_identifiers": ["HP:0008396", "UMLS:C4024683"], "information_content": 100.0}
{"id": "MONDO:0012473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "right pulmonary artery, anomalous origin of, familial", "equivalent_identifiers": ["MONDO:0012473", "OMIM:610338", "UMLS:C1835910", "MESH:C535681", "medgen:322780"], "information_content": 100.0}
{"id": "HP:0005143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of right pulmonary artery from ascending aorta", "equivalent_identifiers": ["HP:0005143", "UMLS:C0345037", "SNOMEDCT:253634009"], "information_content": 100.0}
{"id": "MONDO:0014762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 7, autosomal", "equivalent_identifiers": ["MONDO:0014762", "DOID:0051021", "OMIM:616749", "UMLS:C4225217", "medgen:902629"], "information_content": 100.0}
{"id": "HP:0001702", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tricuspid valve morphology", "equivalent_identifiers": ["HP:0001702", "UMLS:C4025753"], "information_content": 74.7}
{"id": "MONDO:0007650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MALT lymphoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0007650", "DOID:0050909", "OMIM:137245", "orphanet:52417", "EFO:0000191", "UMLS:C0242647", "UMLS:C1367652", "UMLS:C1850900", "MESH:C535648", "MESH:D018442", "MEDDRA:10060707", "MEDDRA:10081368", "MEDDRA:10082405", "NCIT:C3898", "NCIT:C5264", "SNOMEDCT:128803008", "SNOMEDCT:277622004", "SNOMEDCT:397350003", "SNOMEDCT:445269007", "medgen:66942"], "information_content": 75.8}
{"id": "MONDO:0001059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric lymphoma", "equivalent_identifiers": ["MONDO:0001059", "DOID:10540", "UMLS:C0349532", "MEDDRA:10017795", "NCIT:C4636", "SNOMEDCT:276811008", "medgen:87603", "HP:0045038"], "information_content": 83.6}
{"id": "MONDO:0859183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 24, autosomal dominant, susceptibility to", "equivalent_identifiers": ["MONDO:0859183", "OMIM:619491", "UMLS:C5561969", "medgen:1794179"], "information_content": 100.0}
{"id": "MONDO:0859361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia", "equivalent_identifiers": ["MONDO:0859361", "OMIM:620210", "UMLS:C5774298", "medgen:1824071"], "information_content": 100.0}
{"id": "MONDO:0008457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 6", "equivalent_identifiers": ["MONDO:0008457", "DOID:0050956", "OMIM:183086", "orphanet:98758", "UMLS:C0752124", "NCIT:C142838", "SNOMEDCT:715752006", "medgen:148458", "icd11.foundation:1056119281"], "information_content": 100.0}
{"id": "MONDO:0009602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia", "equivalent_identifiers": ["MONDO:0009602", "OMIM:250500", "UMLS:C1855164", "MESH:C535875", "medgen:343282"], "information_content": 100.0}
{"id": "MONDO:0009052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa, autosomal recessive, type 1A", "equivalent_identifiers": ["MONDO:0009052", "DOID:0070135", "OMIM:219100", "UMLS:C3665335", "UMLS:C5848058", "MESH:C562628", "SNOMEDCT:59451000", "medgen:1846304"], "information_content": 100.0}
{"id": "MONDO:0008504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supravalvular aortic stenosis", "equivalent_identifiers": ["MONDO:0008504", "DOID:1929", "OMIM:185500", "orphanet:3193", "UMLS:C0003499", "UMLS:C2936909", "MESH:C538461", "MESH:D021921", "MEDDRA:10042598", "NCIT:C85176", "SNOMEDCT:268185002", "medgen:2001", "icd11.foundation:1066595728", "ICD10:Q25.3", "HP:0004381"], "information_content": 95.4}
{"id": "HP:0025082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cutaneous elastic fiber morphology", "equivalent_identifiers": ["HP:0025082", "UMLS:C4476582"], "information_content": 88.2}
{"id": "MONDO:0007197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder diverticulum", "equivalent_identifiers": ["MONDO:0007197", "DOID:11353", "OMIM:109820", "UMLS:C0156273", "MESH:C562406", "MEDDRA:10005038", "MEDDRA:10013565", "NCIT:C160155", "SNOMEDCT:197866008", "medgen:57625", "ICD10:N32.3", "ICD9:596.3", "HP:0000015"], "information_content": 92.8}
{"id": "MONDO:0957928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 11", "equivalent_identifiers": ["MONDO:0957928", "DOID:0060928", "OMIM:620576", "UMLS:C5882715", "medgen:1846918"], "information_content": 100.0}
{"id": "HP:0008529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of acoustic reflex", "equivalent_identifiers": ["HP:0008529", "UMLS:C1832834"], "information_content": 100.0}
{"id": "MONDO:0010299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoxanthine guanine phosphoribosyltransferase partial deficiency", "equivalent_identifiers": ["MONDO:0010299", "DOID:0112127", "OMIM:300323", "orphanet:79233", "UMLS:C0268117", "MESH:C562583", "MEDDRA:10057583", "MEDDRA:10057588", "SNOMEDCT:238007004", "medgen:82770"], "information_content": 100.0}
{"id": "HP:0001854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Podagra", "equivalent_identifiers": ["HP:0001854", "UMLS:C0221168", "MEDDRA:10035772", "SNOMEDCT:67148009"], "information_content": 100.0}
{"id": "HP:0003149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperuricosuria", "equivalent_identifiers": ["HP:0003149", "UMLS:C0948643", "MEDDRA:10051364", "MEDDRA:10057120"], "information_content": 92.8}
{"id": "MONDO:0009680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy-infantile cataract-hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0009680", "OMIM:254000", "orphanet:1875", "UMLS:C1850864", "MESH:C537385", "medgen:376896"], "information_content": 100.0}
{"id": "MONDO:0008177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extramammary Paget disease", "equivalent_identifiers": ["MONDO:0008177", "OMIM:167300", "orphanet:2800", "EFO:1000249", "UMLS:C0030186", "MESH:D010145", "MEDDRA:10033366", "MEDDRA:10068223", "NCIT:C3302", "SNOMEDCT:232336001", "SNOMEDCT:71447003", "medgen:45280", "icd11.foundation:1796624917"], "information_content": 83.1}
{"id": "MONDO:0010302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ito hypomelanosis", "equivalent_identifiers": ["MONDO:0010302", "DOID:3156", "OMIM:300337", "UMLS:C0022283", "MEDDRA:10075301", "MEDDRA:10075302", "SNOMEDCT:218358001", "SNOMEDCT:48543002", "medgen:5920"], "information_content": 100.0}
{"id": "HP:0005593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular hypopigmented whorls, streaks, and patches", "equivalent_identifiers": ["HP:0005593", "UMLS:C3806616"], "information_content": 100.0}
{"id": "MONDO:0026727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shukla-Vernon syndrome", "equivalent_identifiers": ["MONDO:0026727", "DOID:0111841", "OMIM:301029", "EFO:0010278", "UMLS:C5193146", "medgen:1674076"], "information_content": 100.0}
{"id": "MONDO:0014124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome 4", "equivalent_identifiers": ["MONDO:0014124", "OMIM:615297", "UMLS:C3809092", "medgen:815422"], "information_content": 100.0}
{"id": "HP:0100381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent middle phalanx of the 3rd toe", "equivalent_identifiers": ["HP:0100381", "UMLS:C4021010"], "information_content": 100.0}
{"id": "HP:0100382", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the middle phalanx of the 4th toe", "equivalent_identifiers": ["HP:0100382", "UMLS:C4022111"], "information_content": 100.0}
{"id": "HP:0010645", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanges of the toes", "equivalent_identifiers": ["HP:0010645", "UMLS:C4023761", "SNOMEDCT:1144676008"], "information_content": 88.2}
{"id": "MONDO:0008161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Globodontia", "equivalent_identifiers": ["MONDO:0008161", "OMIM:166750", "orphanet:2791", "UMLS:C1833693", "UMLS:C3873433", "MESH:C563482", "SNOMEDCT:1237343009", "SNOMEDCT:707310009", "medgen:318937"], "information_content": 100.0}
{"id": "MONDO:0008007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth ankylosis", "equivalent_identifiers": ["MONDO:0008007", "DOID:12661", "OMIM:157950", "orphanet:1077", "UMLS:C0155930", "MESH:D020254", "MEDDRA:10002574", "MEDDRA:10044019", "SNOMEDCT:14901003", "medgen:57843", "icd11.foundation:2066427602", "ICD10:K03.5", "ICD9:521.6", "HP:0033791"], "information_content": 100.0}
{"id": "MONDO:0060489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX sex reversal 4", "equivalent_identifiers": ["MONDO:0060489", "DOID:0111764", "OMIM:617480", "UMLS:C4479552", "medgen:1373282"], "information_content": 100.0}
{"id": "HP:0025486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fused labia majora", "equivalent_identifiers": ["HP:0025486", "UMLS:C4476806"], "information_content": 100.0}
{"id": "MONDO:0014843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 11", "equivalent_identifiers": ["MONDO:0014843", "DOID:0080868", "DOID:0080869", "OMIM:616946", "UMLS:C4310783", "medgen:934750"], "information_content": 100.0}
{"id": "MONDO:0012509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigmented nodular adrenocortical disease, primary, 1", "equivalent_identifiers": ["MONDO:0012509", "DOID:0070546", "OMIM:610489", "UMLS:C1864846", "MESH:C566469", "medgen:400627"], "information_content": 100.0}
{"id": "HP:0012030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary cortisol level", "equivalent_identifiers": ["HP:0012030", "UMLS:C4023068"], "information_content": 100.0}
{"id": "HP:0031214", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating dehydroepiandrosterone concentration", "equivalent_identifiers": ["HP:0031214", "UMLS:C4531272"], "information_content": 100.0}
{"id": "MONDO:0013910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 8 with or without anosmia", "equivalent_identifiers": ["MONDO:0013910", "DOID:0090074", "OMIM:614837", "UMLS:C3553841", "medgen:766755"], "information_content": 100.0}
{"id": "MONDO:0013902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve disease 2", "equivalent_identifiers": ["MONDO:0013902", "DOID:0080334", "OMIM:614823", "UMLS:C3542024", "medgen:762200"], "information_content": 100.0}
{"id": "MONDO:0011196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 5", "equivalent_identifiers": ["MONDO:0011196", "DOID:0060197", "OMIM:602099", "UMLS:C1865864", "MESH:C566576", "SNOMEDCT:1201961000", "medgen:356388"], "information_content": 100.0}
{"id": "MONDO:0011313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "equivalent_identifiers": ["MONDO:0011313", "OMIM:603387", "UMLS:C1863924", "UMLS:C4012727", "MESH:C566381", "NCIT:C202114", "medgen:861164"], "information_content": 100.0}
{"id": "HP:0010775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vascular ring", "equivalent_identifiers": ["HP:0010775", "NCIT:C99106", "UMLS:C0221214", "SNOMEDCT:110409004", "SNOMEDCT:66403007", "MESH:D000073872"], "information_content": 100.0}
{"id": "MONDO:0013175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 50", "equivalent_identifiers": ["MONDO:0013175", "DOID:0110396", "OMIM:613194", "UMLS:C2750789", "MESH:C567712", "medgen:442563"], "information_content": 100.0}
{"id": "MONDO:0060455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked congenital hemolytic anemia", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0060455", "DOID:0111846", "OMIM:301015", "UMLS:C4746970", "medgen:1648376"], "information_content": 100.0}
{"id": "MONDO:0012729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrocytosis, familial, 4", "equivalent_identifiers": ["MONDO:0012729", "DOID:0080339", "OMIM:611783", "UMLS:C2673187", "MESH:C567086", "medgen:435867"], "information_content": 100.0}
{"id": "HP:0030248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesenteric venous thrombosis", "equivalent_identifiers": ["HP:0030248", "UMLS:C0267412", "MEDDRA:10027402", "MEDDRA:10043625", "MEDDRA:10043626", "MEDDRA:10047188", "SNOMEDCT:95446005"], "information_content": 100.0}
{"id": "HP:0001900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating hemoglobin concentration", "equivalent_identifiers": ["HP:0001900", "NCIT:C78333", "UMLS:C0549448", "MEDDRA:10018887", "MEDDRA:10018888", "MEDDRA:10055598", "MEDDRA:10055599", "SNOMEDCT:131141003"], "information_content": 84.8}
{"id": "HP:0001899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased hematocrit", "equivalent_identifiers": ["HP:0001899", "UMLS:C0239935", "MEDDRA:10018839", "MEDDRA:10018840", "MEDDRA:10018844", "MEDDRA:10019424", "MEDDRA:10033357", "MEDDRA:10034187", "MEDDRA:10060545", "MEDDRA:10060600", "SNOMEDCT:165413005"], "information_content": 100.0}
{"id": "HP:0033644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating erythropoietin concentration", "equivalent_identifiers": ["HP:0033644", "UMLS:C5539741"], "information_content": 100.0}
{"id": "MONDO:0009113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency", "equivalent_identifiers": ["MONDO:0009113", "DOID:0111630", "OMIM:222800", "orphanet:714", "UMLS:C1291620", "NCIT:C131638", "SNOMEDCT:124678007", "medgen:489898"], "information_content": 100.0}
{"id": "HP:6000557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte bisphosphoglycerate mutase activity", "equivalent_identifiers": ["HP:6000557", "UMLS:C5937319"], "information_content": 100.0}
{"id": "MONDO:0859374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 120", "equivalent_identifiers": ["MONDO:0859374", "OMIM:620238", "UMLS:C5774309", "medgen:1824082"], "information_content": 100.0}
{"id": "MONDO:0009038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis-fibular aplasia syndrome", "equivalent_identifiers": ["MONDO:0009038", "OMIM:218550", "UMLS:C1857492", "UMLS:C4517333", "MESH:C565665", "SNOMEDCT:732250002", "medgen:347468"], "information_content": 100.0}
{"id": "OMIM:155601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2", "equivalent_identifiers": ["OMIM:155601", "UMLS:C1835044"]}
{"id": "MONDO:0009769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculo-palato-cerebral syndrome", "equivalent_identifiers": ["MONDO:0009769", "OMIM:257910", "orphanet:2714", "UMLS:C1850338", "MESH:C564935", "SNOMEDCT:722055008", "medgen:338025"], "information_content": 100.0}
{"id": "MONDO:0032611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 6", "equivalent_identifiers": ["MONDO:0032611", "DOID:0112066", "OMIM:618228", "UMLS:C4748759", "medgen:1648496"], "information_content": 100.0}
{"id": "MONDO:0010893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia, susceptibility to, 4", "equivalent_identifiers": ["MONDO:0010893", "OMIM:600467", "UMLS:C1838102", "MESH:C535697", "medgen:324944"], "information_content": 100.0}
{"id": "MONDO:0007440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "major affective disorder 1", "equivalent_identifiers": ["MONDO:0007440", "OMIM:125480", "UMLS:C1852197", "MESH:C565111", "medgen:377615"], "information_content": 100.0}
{"id": "HP:0100754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mania", "equivalent_identifiers": ["HP:0100754", "NCIT:C117248", "NCIT:C35166", "NCIT:C61374", "NCIT:C78349", "UMLS:C0151772", "UMLS:C0241934", "UMLS:C0338831", "UMLS:C0564408", "MEDDRA:10021030", "MEDDRA:10026749", "MEDDRA:10026752", "MEDDRA:10026780", "MEDDRA:10026781", "MEDDRA:10026782", "MEDDRA:10037239", "MEDDRA:10037953", "SNOMEDCT:231494001", "SNOMEDCT:231496004", "SNOMEDCT:281257007", "SNOMEDCT:405273008", "MESH:D000087122"], "information_content": 100.0}
{"id": "MONDO:0008411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulnar-mammary syndrome", "equivalent_identifiers": ["MONDO:0008411", "DOID:0060614", "OMIM:181450", "orphanet:3138", "UMLS:C1866994", "MESH:C536937", "MEDDRA:10084409", "SNOMEDCT:700211007", "medgen:357886", "icd11.foundation:1508836700"], "information_content": 100.0}
{"id": "HP:0009281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 4th finger", "equivalent_identifiers": ["HP:0009281", "UMLS:C4024472"], "information_content": 90.9}
{"id": "HP:0025259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff elbow", "equivalent_identifiers": ["HP:0025259", "UMLS:C0239272", "SNOMEDCT:249917001"], "information_content": 100.0}
{"id": "HP:0002215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse axillary hair", "equivalent_identifiers": ["HP:0002215", "UMLS:C1858574", "UMLS:C5201144", "UMLS:C5209218"], "information_content": 100.0}
{"id": "HP:0010040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 3rd metacarpal", "equivalent_identifiers": ["HP:0010040", "UMLS:C4024088"], "information_content": 100.0}
{"id": "HP:0010043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 4th metacarpal", "equivalent_identifiers": ["HP:0010043", "UMLS:C4024086"], "information_content": 100.0}
{"id": "HP:0007397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axillary apocrine gland hypoplasia", "equivalent_identifiers": ["HP:0007397", "UMLS:C1867003"], "information_content": 100.0}
{"id": "HP:0009238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 5th finger", "equivalent_identifiers": ["HP:0009238", "UMLS:C4024508"], "information_content": 90.9}
{"id": "HP:0003977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed radius", "equivalent_identifiers": ["HP:0003977", "UMLS:C4025467"], "information_content": 100.0}
{"id": "MONDO:0011405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "poikiloderma with neutropenia", "equivalent_identifiers": ["MONDO:0011405", "DOID:0060551", "OMIM:604173", "orphanet:221046", "UMLS:C1858723", "MESH:C565820", "NCIT:C177535", "SNOMEDCT:772126000", "medgen:388129", "ICD10:D82.8"], "information_content": 100.0}
{"id": "MONDO:0009358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hutterite cerebroosteonephrodysplasia syndrome", "equivalent_identifiers": ["MONDO:0009358", "OMIM:236450", "UMLS:C1856054", "MESH:C536074", "medgen:343466"], "information_content": 100.0}
{"id": "HP:0010820", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal emotional seizure with crying", "equivalent_identifiers": ["HP:0010820", "UMLS:C4023693"], "information_content": 92.8}
{"id": "HP:0000830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior hypopituitarism", "equivalent_identifiers": ["HP:0000830", "UMLS:C4025821"], "information_content": 79.3}
{"id": "MONDO:0021042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glioma", "equivalent_identifiers": ["MONDO:0021042", "orphanet:182067", "EFO:0005543", "UMLS:C0017638", "MESH:D005910", "MEDDRA:10018338", "NCIT:C3059", "SNOMEDCT:115240006", "SNOMEDCT:393564001", "SNOMEDCT:74532006", "medgen:9030", "HP:0009733"], "information_content": 58.9}
{"id": "MONDO:0014698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "equivalent_identifiers": ["MONDO:0014698", "OMIM:616577", "orphanet:457351", "EFO:0009647", "UMLS:C4225276", "SNOMEDCT:1254651003", "medgen:895574"], "information_content": 100.0}
{"id": "MONDO:0030491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 91 and hyperinflammation", "equivalent_identifiers": ["MONDO:0030491", "DOID:0061061", "OMIM:619644", "UMLS:C5562073", "medgen:1794283"], "information_content": 100.0}
{"id": "HP:0031691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe viral infection", "equivalent_identifiers": ["HP:0031691", "UMLS:C3277428"], "information_content": 83.6}
{"id": "HP:0033399", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent fever", "equivalent_identifiers": ["HP:0033399", "UMLS:C0476474"], "information_content": 100.0}
{"id": "MONDO:0000368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extrapulmonary tuberculosis", "equivalent_identifiers": ["MONDO:0000368", "DOID:0050598", "UMLS:C0679362", "MESH:D000092225", "MEDDRA:10064445", "SNOMEDCT:423997002", "medgen:671310", "HP:0032271"], "information_content": 76.7}
{"id": "MONDO:0010450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 89", "equivalent_identifiers": ["MONDO:0010450", "DOID:0112031", "OMIM:300848", "UMLS:C1839082", "MESH:C564036", "medgen:333247"], "information_content": 100.0}
{"id": "MONDO:0009919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisomal acyl-CoA oxidase deficiency", "equivalent_identifiers": ["MONDO:0009919", "DOID:0050797", "OMIM:264470", "orphanet:2971", "UMLS:C1849678", "MESH:C536662", "NCIT:C170437", "SNOMEDCT:238069004", "medgen:376636", "icd11.foundation:927825451"], "information_content": 100.0}
{"id": "HP:6000217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating acyl-CoA oxidase activity", "equivalent_identifiers": ["HP:6000217", "UMLS:C5937047"], "information_content": 100.0}
{"id": "HP:0006555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse hepatic steatosis", "equivalent_identifiers": ["HP:0006555", "UMLS:C1849686"], "information_content": 100.0}
{"id": "HP:0008167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Very long chain fatty acid accumulation", "equivalent_identifiers": ["HP:0008167", "UMLS:C3279397"], "information_content": 100.0}
{"id": "HP:0008763", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "No social interaction", "equivalent_identifiers": ["HP:0008763", "UMLS:C1849683"], "information_content": 92.8}
{"id": "MONDO:0044696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome", "equivalent_identifiers": ["MONDO:0044696", "OMIM:617669", "orphanet:500144", "UMLS:C5567229", "SNOMEDCT:1169356004", "medgen:1798652"], "information_content": 100.0}
{"id": "HP:0034311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic optic chiasm", "equivalent_identifiers": ["HP:0034311", "UMLS:C3554572"], "information_content": 100.0}
{"id": "MONDO:0018996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "equivalent_identifiers": ["MONDO:0018996", "DOID:0050755", "OMIM:606002", "orphanet:64753", "UMLS:C1853761", "MESH:C537308", "NCIT:C165500", "SNOMEDCT:725408001", "medgen:340052"], "information_content": 100.0}
{"id": "HP:0007240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive gait ataxia", "equivalent_identifiers": ["HP:0007240", "UMLS:C1843885"], "information_content": 100.0}
{"id": "HP:0007267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic axonal neuropathy", "equivalent_identifiers": ["HP:0007267", "UMLS:C4021578"], "information_content": 100.0}
{"id": "MONDO:0014533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 28", "equivalent_identifiers": ["MONDO:0014533", "DOID:0080452", "OMIM:616211", "UMLS:C4015519", "NCIT:C189273", "medgen:863956"], "information_content": 100.0}
{"id": "MONDO:0030871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral hypersegmentation and orofacial anomalies", "equivalent_identifiers": ["MONDO:0030871", "DOID:0070418", "OMIM:619122", "UMLS:C5436851", "medgen:1746640"], "information_content": 100.0}
{"id": "HP:0100334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral cleft palate", "equivalent_identifiers": ["HP:0100334", "UMLS:C4022143"], "information_content": 100.0}
{"id": "HP:0008416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Six lumbar vertebrae", "equivalent_identifiers": ["HP:0008416", "UMLS:C1839279"], "information_content": 100.0}
{"id": "MONDO:0014932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome XV", "equivalent_identifiers": ["MONDO:0014932", "OMIM:617127", "UMLS:C4310701", "medgen:934668"], "information_content": 100.0}
{"id": "HP:0009084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline notch of upper alveolar ridge", "equivalent_identifiers": ["HP:0009084", "UMLS:C1851853"], "information_content": 100.0}
{"id": "MONDO:0012693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to muscle and heart glycogen synthase deficiency", "equivalent_identifiers": ["MONDO:0012693", "OMIM:611556", "orphanet:137625", "UMLS:C1969054", "UMLS:C4510752", "MESH:C566917", "SNOMEDCT:725027004", "medgen:409741"], "information_content": 100.0}
{"id": "HP:0012270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased muscle glycogen content", "equivalent_identifiers": ["HP:0012270", "UMLS:C4022979"], "information_content": 95.4}
{"id": "MONDO:0014547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 24", "equivalent_identifiers": ["MONDO:0014547", "DOID:0111485", "OMIM:616239", "orphanet:444458", "EFO:0009034", "UMLS:C4015643", "SNOMEDCT:1222680009", "medgen:864080"], "information_content": 100.0}
{"id": "OMIM:162091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SCHWANNOMATOSIS 1", "equivalent_identifiers": ["OMIM:162091", "UMLS:C4048809"]}
{"id": "HP:0009593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral schwannoma", "equivalent_identifiers": ["HP:0009593", "UMLS:C4024276"], "information_content": 100.0}
{"id": "MONDO:0021234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal Neoplasm", "equivalent_identifiers": ["MONDO:0021234", "EFO:0003828", "UMLS:C0037930", "UMLS:C0037939", "MESH:D013120", "MESH:D013125", "MEDDRA:10049762", "MEDDRA:10062261", "NCIT:C168693", "NCIT:C3381", "SNOMEDCT:126962006", "SNOMEDCT:709289008", "medgen:11551", "HP:0010302"], "information_content": 72.8}
{"id": "MONDO:0013231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 14", "equivalent_identifiers": ["MONDO:0013231", "DOID:0110188", "OMIM:613341", "UMLS:C2750063", "UMLS:C2750064", "UMLS:C2750065", "MESH:C567636", "medgen:442375"], "information_content": 100.0}
{"id": "MONDO:0009374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydroxyprolinemia", "equivalent_identifiers": ["MONDO:0009374", "OMIM:237000", "UMLS:C0268531", "MESH:C562669", "MEDDRA:10053148", "MEDDRA:10060480", "SNOMEDCT:25739007", "medgen:75691", "HP:0003260"], "information_content": 100.0}
{"id": "MONDO:0008129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia, familial total, with iris transillumination", "equivalent_identifiers": ["MONDO:0008129", "OMIM:165098", "UMLS:C1833836", "MESH:C563499", "medgen:371665"], "information_content": 100.0}
{"id": "HP:0007824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Total ophthalmoplegia", "equivalent_identifiers": ["HP:0007824", "UMLS:C0155338", "MEDDRA:10044103", "SNOMEDCT:78097002"], "information_content": 100.0}
{"id": "HP:0007942", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Internal ophthalmoplegia", "equivalent_identifiers": ["HP:0007942", "UMLS:C0339693", "MEDDRA:10030877", "SNOMEDCT:232146005"], "information_content": 100.0}
{"id": "MONDO:0010461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Nascimento type", "equivalent_identifiers": ["MONDO:0010461", "DOID:0060820", "OMIM:300860", "orphanet:163956", "UMLS:C3275464", "NCIT:C202069", "medgen:477095"], "information_content": 100.0}
{"id": "MONDO:0033486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 14", "equivalent_identifiers": ["MONDO:0033486", "DOID:0080296", "OMIM:617899", "UMLS:C4693535", "medgen:1635255"], "information_content": 100.0}
{"id": "MONDO:0032818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cerebellar hypoplasia and spasticity", "equivalent_identifiers": ["MONDO:0032818", "OMIM:618572", "EFO:0010562", "UMLS:C5231415", "medgen:1684815"], "information_content": 100.0}
{"id": "MONDO:0060549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay", "equivalent_identifiers": ["MONDO:0060549", "DOID:0112359", "OMIM:617641", "orphanet:656130", "UMLS:C4539968", "medgen:1612119"], "information_content": 100.0}
{"id": "HP:0005563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased numbers of nephrons", "equivalent_identifiers": ["HP:0005563", "UMLS:C1841994", "UMLS:C2673888"], "information_content": 95.4}
{"id": "HP:0008589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic helices", "equivalent_identifiers": ["HP:0008589", "UMLS:C1842681"], "information_content": 95.4}
{"id": "MONDO:0008008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MOMO syndrome", "equivalent_identifiers": ["MONDO:0008008", "OMIM:157980", "orphanet:2563", "UMLS:C1834759", "MESH:C535812", "SNOMEDCT:724137002", "medgen:371897"], "information_content": 100.0}
{"id": "MONDO:0043003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial acanthosis nigricans", "equivalent_identifiers": ["MONDO:0043003", "OMIM:100600", "UMLS:C2930792", "MESH:C531598", "medgen:419638"], "information_content": 100.0}
{"id": "MONDO:0014023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy with intellectual disability and severe epilepsy", "equivalent_identifiers": ["MONDO:0014023", "DOID:0080571", "OMIM:615042", "orphanet:329178", "UMLS:C5190603", "SNOMEDCT:782772000", "medgen:1682844"], "information_content": 100.0}
{"id": "HP:0410362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased O-mannosyl glycans on alpha-dystroglycan", "equivalent_identifiers": ["HP:0410362", "UMLS:C3554388"], "information_content": 100.0}
{"id": "MONDO:0014322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 9", "equivalent_identifiers": ["MONDO:0014322", "DOID:0080866", "OMIM:615724", "UMLS:C3810376", "medgen:816706"], "information_content": 100.0}
{"id": "MONDO:0007088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease type 1", "equivalent_identifiers": ["MONDO:0007088", "DOID:0080348", "OMIM:104300", "UMLS:C1863052", "UMLS:C1863053", "UMLS:C3549448", "MESH:C536594", "MESH:C566299", "NCIT:C146894", "medgen:354892"], "information_content": 100.0}
{"id": "HP:0410054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating GABA concentration", "equivalent_identifiers": ["HP:0410054", "UMLS:C4703620"], "information_content": 100.0}
{"id": "HP:0002423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long-tract sign", "equivalent_identifiers": ["HP:0002423", "UMLS:C1865903"], "information_content": 87.2}
{"id": "MONDO:0010554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abruzzo-Erickson syndrome", "equivalent_identifiers": ["MONDO:0010554", "DOID:0111826", "OMIM:302905", "orphanet:921", "UMLS:C1844862", "MESH:C535559", "SNOMEDCT:718574003", "medgen:375529"], "information_content": 100.0}
{"id": "MONDO:0013238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17q23.1-q23.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0013238", "DOID:0060405", "OMIM:613355", "orphanet:261279", "UMLS:C3150607", "UMLS:C4304591", "SNOMEDCT:719584008", "medgen:461957"], "information_content": 100.0}
{"id": "MONDO:0008373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal arterial tortuosity", "equivalent_identifiers": ["MONDO:0008373", "DOID:0111547", "OMIM:180000", "orphanet:75326", "UMLS:C0423401", "SNOMEDCT:247123003", "medgen:140840", "HP:0000631"], "information_content": 95.4}
{"id": "HP:0001136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal arteriolar tortuosity", "equivalent_identifiers": ["HP:0001136", "UMLS:C1843517", "UMLS:C5779554"], "information_content": 100.0}
{"id": "MONDO:0014934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 24", "equivalent_identifiers": ["MONDO:0014934", "DOID:0111615", "OMIM:617133", "UMLS:C4310699", "medgen:934666"], "information_content": 100.0}
{"id": "MONDO:0011945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease perinatal lethal", "equivalent_identifiers": ["MONDO:0011945", "DOID:0110960", "OMIM:608013", "orphanet:85212", "UMLS:C1842704", "MESH:C564306", "SNOMEDCT:870313002", "medgen:374996"], "information_content": 100.0}
{"id": "HP:0007549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Desquamation of skin soon after birth", "equivalent_identifiers": ["HP:0007549", "UMLS:C1842714"], "information_content": 100.0}
{"id": "MONDO:0009161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, dermatosparaxis type", "equivalent_identifiers": ["MONDO:0009161", "DOID:0080733", "OMIM:225410", "orphanet:1901", "UMLS:C0268345", "UMLS:C2700425", "MESH:C567527", "SNOMEDCT:1237225007", "SNOMEDCT:55711009", "medgen:397792", "icd11.foundation:445808781"], "information_content": 100.0}
{"id": "HP:0000222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gingival hyperkeratosis", "equivalent_identifiers": ["HP:0000222", "UMLS:C1857013"], "information_content": 100.0}
{"id": "HP:0005332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent mandibular subluxations", "equivalent_identifiers": ["HP:0005332", "UMLS:C1857011"], "information_content": 100.0}
{"id": "HP:0200094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal open bite", "equivalent_identifiers": ["HP:0200094", "UMLS:C1857012"], "information_content": 100.0}
{"id": "MONDO:0007866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bart-Pumphrey syndrome", "equivalent_identifiers": ["MONDO:0007866", "DOID:0050658", "OMIM:149200", "orphanet:2698", "UMLS:C0266004", "MESH:C537210", "SNOMEDCT:1271009", "medgen:82727"], "information_content": 100.0}
{"id": "MONDO:0958331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 114", "equivalent_identifiers": ["MONDO:0958331", "OMIM:620774", "UMLS:C5935598", "medgen:1860189"], "information_content": 100.0}
{"id": "MONDO:0009346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Histidinuria", "equivalent_identifiers": ["MONDO:0009346", "OMIM:235830", "orphanet:2158", "UMLS:C0268642", "UMLS:C5399766", "MESH:C538321", "SNOMEDCT:78311009", "medgen:82825", "HP:0002927"], "information_content": 95.4}
{"id": "HP:0008666", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired histidine renal tubular absorption", "equivalent_identifiers": ["HP:0008666", "UMLS:C4024642"], "information_content": 100.0}
{"id": "HP:0005844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rounded middle phalanx of finger", "equivalent_identifiers": ["HP:0005844", "UMLS:C4025126"], "information_content": 100.0}
{"id": "MONDO:0014397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 20", "equivalent_identifiers": ["MONDO:0014397", "DOID:0111478", "OMIM:615917", "orphanet:420728", "UMLS:C4014660", "medgen:863097"], "information_content": 100.0}
{"id": "MONDO:0011374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercholesterolemia, familial, 4", "equivalent_identifiers": ["MONDO:0011374", "DOID:0090105", "OMIM:603813", "UMLS:C1863512", "MESH:C566331", "MEDDRA:10088744", "MEDDRA:10088745", "NCIT:C128114", "medgen:400313", "ICD10:E78.0"], "information_content": 100.0}
{"id": "MONDO:0859280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, hypotonia, and impaired language", "equivalent_identifiers": ["MONDO:0859280", "DOID:0070420", "OMIM:620012", "UMLS:C5774202", "medgen:1823975"], "information_content": 100.0}
{"id": "HP:0012443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal brain morphology", "equivalent_identifiers": ["HP:0012443", "UMLS:C4021085"], "information_content": 47.9}
{"id": "MONDO:0016060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngeal cleft", "equivalent_identifiers": ["MONDO:0016060", "orphanet:2004", "UMLS:C1840311", "MESH:C537875", "MEDDRA:10069115", "NCIT:C98622", "SNOMEDCT:232461002", "icd11.foundation:271795917", "HP:0008751"], "information_content": 87.2}
{"id": "MONDO:0030519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 9, autosomal recessive", "equivalent_identifiers": ["MONDO:0030519", "DOID:0081141", "OMIM:619693", "UMLS:C5562059", "medgen:1794269"], "information_content": 100.0}
{"id": "MONDO:0036483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 18 with polydactyly", "equivalent_identifiers": ["MONDO:0036483", "DOID:0080293", "OMIM:617866", "UMLS:C4693420", "medgen:1632904"], "information_content": 100.0}
{"id": "MONDO:0010684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked myopathy with excessive autophagy", "equivalent_identifiers": ["MONDO:0010684", "DOID:0050760", "OMIM:310440", "orphanet:25980", "UMLS:C1839615", "MESH:C536522", "MESH:C564093", "SNOMEDCT:719815005", "medgen:374264"], "information_content": 95.4}
{"id": "MONDO:0010392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "equivalent_identifiers": ["MONDO:0010392", "DOID:0111933", "OMIM:300653", "orphanet:713", "UMLS:C1970848", "MESH:C567067", "NCIT:C126738", "medgen:410166", "icd11.foundation:1396572570"], "information_content": 100.0}
{"id": "MONDO:0030513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 33", "equivalent_identifiers": ["MONDO:0030513", "DOID:0060940", "OMIM:619687", "UMLS:C5562054", "medgen:1794264"], "information_content": 100.0}
{"id": "HP:0032807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal seizure", "equivalent_identifiers": ["HP:0032807", "NCIT:C118507", "UMLS:C0159020", "MEDDRA:10010911", "MEDDRA:10010919", "MEDDRA:10010921", "MEDDRA:10028932", "MEDDRA:10028939", "MEDDRA:10061197", "MEDDRA:10082067", "SNOMEDCT:87476004"], "information_content": 76.7}
{"id": "MONDO:0054741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 34", "equivalent_identifiers": ["MONDO:0054741", "DOID:0111497", "OMIM:617872", "orphanet:457223", "UMLS:C4693450", "SNOMEDCT:1260133007", "medgen:1631307"], "information_content": 100.0}
{"id": "MONDO:0010079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Canavan disease", "equivalent_identifiers": ["MONDO:0010079", "DOID:3613", "OMIM:271900", "orphanet:141", "UMLS:C0206307", "MESH:D017825", "MEDDRA:10067608", "NCIT:C84611", "SNOMEDCT:80544005", "medgen:61565", "icd11.foundation:1576870846"], "information_content": 92.8}
{"id": "HP:6000354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced aspartoacylase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000354", "UMLS:C5937148"], "information_content": 100.0}
{"id": "HP:0025053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated brain N-acetyl aspartate level by MRS", "equivalent_identifiers": ["HP:0025053", "UMLS:C4476572"], "information_content": 100.0}
{"id": "HP:0034649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine N-acetylaspartic acid level", "equivalent_identifiers": ["HP:0034649", "UMLS:C5826558"], "information_content": 100.0}
{"id": "HP:0032273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating N-acetylaspartic acid concentration", "equivalent_identifiers": ["HP:0032273", "UMLS:C5139235"], "information_content": 100.0}
{"id": "HP:0032274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF N-acetylaspartic acid concentration", "equivalent_identifiers": ["HP:0032274", "UMLS:C5139236"], "information_content": 100.0}
{"id": "MONDO:0008792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial angiolipomatosis", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0008792", "OMIM:206550", "orphanet:199279", "UMLS:C1859784", "MESH:C565951", "SNOMEDCT:774066000", "medgen:347235"], "information_content": 100.0}
{"id": "MONDO:0006085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiolipoma", "equivalent_identifiers": ["MONDO:0006085", "DOID:3616", "EFO:1000085", "UMLS:C0206632", "UMLS:C4024980", "MESH:D018206", "MEDDRA:10048945", "NCIT:C3733", "SNOMEDCT:404057003", "SNOMEDCT:73219006", "medgen:64621", "HP:0006773"], "information_content": 86.3}
{"id": "MONDO:0008444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia, optic atrophy, and dementia", "equivalent_identifiers": ["MONDO:0008444", "OMIM:182830", "UMLS:C1866849", "MESH:C566679", "medgen:356630"], "information_content": 100.0}
{"id": "MONDO:0013244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type E2", "equivalent_identifiers": ["MONDO:0013244", "DOID:0110976", "OMIM:613382", "UMLS:C3150644", "medgen:461994"], "information_content": 100.0}
{"id": "MONDO:0009705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine palmitoyl transferase 1A deficiency", "equivalent_identifiers": ["MONDO:0009705", "DOID:0090129", "OMIM:255120", "orphanet:156", "UMLS:C1829703", "MESH:C535588", "NCIT:C98871", "SNOMEDCT:238001003", "medgen:316820"], "information_content": 100.0}
{"id": "HP:0008279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient hyperlipidemia", "equivalent_identifiers": ["HP:0008279", "UMLS:C1850722"], "information_content": 100.0}
{"id": "HP:0001985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoketotic hypoglycemia", "equivalent_identifiers": ["HP:0001985", "UMLS:C1856438"], "information_content": 100.0}
{"id": "HP:0007335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent encephalopathy", "equivalent_identifiers": ["HP:0007335", "UMLS:C1850719"], "information_content": 100.0}
{"id": "MONDO:0958279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly-polydactyly syndrome", "equivalent_identifiers": ["MONDO:0958279", "OMIM:620748", "UMLS:C5935591", "medgen:1855924"], "information_content": 100.0}
{"id": "MONDO:0020340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral perisylvian polymicrogyria", "equivalent_identifiers": ["MONDO:0020340", "DOID:0080924", "orphanet:98889", "UMLS:C1845668", "MESH:C536658", "MEDDRA:10082716", "medgen:337000", "icd11.foundation:1882677643", "HP:0032407"], "information_content": 87.2}
{"id": "MONDO:0859251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dentici-Novelli neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859251", "OMIM:619877", "UMLS:C5676987", "medgen:1810366"], "information_content": 100.0}
{"id": "MONDO:0008751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticosterone methyloxidase type 1 deficiency", "equivalent_identifiers": ["MONDO:0008751", "DOID:0080626", "OMIM:203400", "UMLS:C0268293", "MESH:C537806", "SNOMEDCT:47757001", "medgen:82784"], "information_content": 100.0}
{"id": "MONDO:0010687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrolithiasis, X-linked recessive, with renal failure", "equivalent_identifiers": ["MONDO:0010687", "DOID:0111798", "OMIM:310468", "UMLS:C0403720", "MESH:C562901", "SNOMEDCT:236713006", "medgen:96047"], "information_content": 100.0}
{"id": "MONDO:0060568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pilarowski-Bjornsson syndrome", "equivalent_identifiers": ["MONDO:0060568", "OMIM:617682", "orphanet:529965", "EFO:1001500", "UMLS:C4540131", "MEDDRA:10090383", "SNOMEDCT:1217382002", "medgen:1619150"], "information_content": 100.0}
{"id": "MONDO:0014043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic primordial dwarfism due to ZNF335 deficiency", "equivalent_identifiers": ["MONDO:0014043", "DOID:0070294", "OMIM:615095", "orphanet:329228", "UMLS:C3554499", "UMLS:C4510378", "SNOMEDCT:724141003", "medgen:767413"], "information_content": 100.0}
{"id": "MONDO:0013040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome with MCP/CD46 anomaly", "equivalent_identifiers": ["MONDO:0013040", "OMIM:612922", "UMLS:C2752040", "medgen:414167"], "information_content": 100.0}
{"id": "MONDO:0014037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 11", "equivalent_identifiers": ["MONDO:0014037", "DOID:0070180", "OMIM:615081", "UMLS:C3554453", "medgen:767367"], "information_content": 100.0}
{"id": "HP:0012864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sperm morphology", "equivalent_identifiers": ["HP:0012864", "UMLS:C0403824", "MEDDRA:10050208", "SNOMEDCT:236817003", "MESH:D000072660"], "information_content": 70.8}
{"id": "MONDO:0013048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 50", "equivalent_identifiers": ["MONDO:0013048", "DOID:0110802", "OMIM:612936", "UMLS:C2752008", "MESH:C567858", "NCIT:C179863", "medgen:442869"], "information_content": 100.0}
{"id": "HP:0002200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudobulbar signs", "equivalent_identifiers": ["HP:0002200", "UMLS:C1838579"], "information_content": 92.8}
{"id": "HP:0033683", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jaw hyperreflexia", "equivalent_identifiers": ["HP:0033683", "UMLS:C3552908"], "information_content": 100.0}
{"id": "MONDO:0011842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions", "equivalent_identifiers": ["MONDO:0011842", "DOID:0060672", "OMIM:607485", "UMLS:C1843792", "medgen:375285", "ICD10:G31.0"], "information_content": 90.9}
{"id": "HP:0007064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive language deterioration", "equivalent_identifiers": ["HP:0007064", "UMLS:C1843793"], "information_content": 100.0}
{"id": "HP:5200321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amplification of sexual behavior", "equivalent_identifiers": ["HP:5200321", "UMLS:C0312420", "MEDDRA:10066364", "SNOMEDCT:73744004"], "information_content": 100.0}
{"id": "HP:0008762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Repetitive compulsive behavior", "equivalent_identifiers": ["HP:0008762", "UMLS:C1969697"], "information_content": 100.0}
{"id": "MONDO:0011748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1G", "equivalent_identifiers": ["MONDO:0011748", "DOID:0110834", "OMIM:606943", "UMLS:C1847089", "MESH:C564643", "medgen:339683"], "information_content": 100.0}
{"id": "HP:0004646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the nasal bone", "equivalent_identifiers": ["HP:0004646", "UMLS:C4021651"], "information_content": 95.4}
{"id": "MONDO:0007535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "emphysema, hereditary pulmonary", "equivalent_identifiers": ["MONDO:0007535", "OMIM:130700", "UMLS:C1851718", "MESH:C565057", "medgen:338765"], "information_content": 100.0}
{"id": "MONDO:0100183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radioulnar synostosis, nonsyndromic, susceptibility to", "equivalent_identifiers": ["MONDO:0100183", "OMIM:179300", "UMLS:C5241445", "medgen:1712799"], "information_content": 100.0}
{"id": "MONDO:0008148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 4", "equivalent_identifiers": ["MONDO:0008148", "DOID:0110340", "OMIM:166220", "orphanet:216820", "UMLS:C0268363", "MESH:C000631847", "MESH:C536045", "NCIT:C98576", "SNOMEDCT:205497004", "medgen:78665", "icd11.foundation:829297901"], "information_content": 100.0}
{"id": "HP:0003321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biconcave flattened vertebrae", "equivalent_identifiers": ["HP:0003321", "UMLS:C1833753"], "information_content": 100.0}
{"id": "HP:0005005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoral bowing present at birth, straightening with time", "equivalent_identifiers": ["HP:0005005", "UMLS:C1833754"], "information_content": 100.0}
{"id": "MONDO:0010560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate with or without ankyloglossia, X-linked", "equivalent_identifiers": ["MONDO:0010560", "DOID:0060613", "OMIM:303400", "orphanet:324601", "UMLS:C1844830", "UMLS:C4707825", "MESH:C536426", "SNOMEDCT:766761000", "medgen:375520"], "information_content": 100.0}
{"id": "MONDO:0007592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial recurrent peripheral facial palsy", "equivalent_identifiers": ["MONDO:0007592", "OMIM:134200", "orphanet:2809", "UMLS:C1851399", "MESH:C565028", "SNOMEDCT:783257005", "medgen:342742"], "information_content": 100.0}
{"id": "MONDO:0014612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4", "equivalent_identifiers": ["MONDO:0014612", "OMIM:616371", "UMLS:C4225347", "medgen:903928"], "information_content": 100.0}
{"id": "HP:0025175", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Honeycomb lung", "equivalent_identifiers": ["HP:0025175", "UMLS:C0241984"], "information_content": 100.0}
{"id": "MONDO:0033621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, infantile, James type", "equivalent_identifiers": ["MONDO:0033621", "OMIM:619042", "UMLS:C5436669", "medgen:1764556"], "information_content": 100.0}
{"id": "MONDO:0010899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nocturnal frontal lobe epilepsy 1", "equivalent_identifiers": ["MONDO:0010899", "DOID:0060682", "OMIM:600513", "UMLS:C1838049", "MESH:C563930", "medgen:324932"], "information_content": 100.0}
{"id": "MONDO:0060577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, ataxia, and seizures", "equivalent_identifiers": ["MONDO:0060577", "OMIM:617709", "UMLS:C4540188", "medgen:1613354"], "information_content": 100.0}
{"id": "MONDO:0012078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 3", "equivalent_identifiers": ["MONDO:0012078", "DOID:0110998", "OMIM:608629", "UMLS:C1837713", "MESH:C536295", "NCIT:C148259", "medgen:332931"], "information_content": 100.0}
{"id": "MONDO:0010489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 101", "equivalent_identifiers": ["MONDO:0010489", "DOID:0112048", "OMIM:300928", "UMLS:C3890168", "medgen:855517"], "information_content": 100.0}
{"id": "MONDO:0007160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome type 1", "equivalent_identifiers": ["MONDO:0007160", "DOID:0080676", "OMIM:108300", "orphanet:90653", "UMLS:C2020284", "MESH:C537492", "NCIT:C168733", "SNOMEDCT:1010668008", "medgen:810955", "icd11.foundation:203625278"], "information_content": 95.4}
{"id": "MONDO:0008410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scheuermann disease", "equivalent_identifiers": ["MONDO:0008410", "DOID:13300", "OMIM:181440", "UMLS:C0036310", "MESH:D012544", "MEDDRA:10023263", "MEDDRA:10039594", "MEDDRA:10078680", "NCIT:C34999", "SNOMEDCT:53406005", "medgen:19885", "ICD10:M42.0", "ICD9:732.0", "HP:0010891"], "information_content": 95.4}
{"id": "HP:0031153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Membranous vitreous appearance", "equivalent_identifiers": ["HP:0031153", "UMLS:C4477006"], "information_content": 100.0}
{"id": "MONDO:0030538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 34, myoclonic", "equivalent_identifiers": ["MONDO:0030538", "DOID:0060957", "OMIM:619724", "UMLS:C5676907", "medgen:1805016"], "information_content": 100.0}
{"id": "MONDO:0007770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperpigmentation of Fuldauer and Kuijpers", "equivalent_identifiers": ["MONDO:0007770", "OMIM:145200", "UMLS:C1840393", "MESH:C564164", "medgen:327090"], "information_content": 100.0}
{"id": "MONDO:0013622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 9", "equivalent_identifiers": ["MONDO:0013622", "DOID:0111045", "OMIM:614200", "orphanet:98886", "UMLS:C3280114", "MESH:C566000", "medgen:481744"], "information_content": 100.0}
{"id": "MONDO:0001414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopoikilosis", "equivalent_identifiers": ["MONDO:0001414", "DOID:11991", "UMLS:C0029455", "MESH:D010023", "MEDDRA:10031281", "NCIT:C84985", "SNOMEDCT:9147009", "medgen:45251", "icd11.foundation:801926378", "ICD10:Q78.8", "ICD9:756.53", "HP:0010739"], "information_content": 95.4}
{"id": "MONDO:0010157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tryptophanuria with dwarfism", "equivalent_identifiers": ["MONDO:0010157", "OMIM:276100", "UMLS:C0268473", "MESH:C562658", "SNOMEDCT:12045002", "medgen:78680"], "information_content": 100.0}
{"id": "HP:0003361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tryptophanuria", "equivalent_identifiers": ["HP:0003361", "UMLS:C0268472", "SNOMEDCT:18789002"], "information_content": 95.4}
{"id": "MONDO:0007860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal palmoplantar and gingival keratoderma", "equivalent_identifiers": ["MONDO:0007860", "DOID:0070553", "OMIM:148730", "orphanet:2200", "UMLS:C1835650", "MESH:C536157", "SNOMEDCT:764963007", "medgen:372097"], "information_content": 100.0}
{"id": "HP:0007497", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal friction-related palmoplantar hyperkeratosis", "equivalent_identifiers": ["HP:0007497", "UMLS:C1835654"], "information_content": 100.0}
{"id": "HP:0008399", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Circumungual hyperkeratosis", "equivalent_identifiers": ["HP:0008399", "UMLS:C4024681"], "information_content": 100.0}
{"id": "MONDO:0009135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia, congenital dyserythropoietic, type 1a", "equivalent_identifiers": ["MONDO:0009135", "DOID:0111398", "OMIM:224120", "UMLS:C5574667", "medgen:1807106"], "information_content": 100.0}
{"id": "HP:0005532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrocytic dyserythropoietic anemia", "equivalent_identifiers": ["HP:0005532", "UMLS:C4025183"], "information_content": 100.0}
{"id": "HP:0003352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Endopolyploidy on chromosome studies of bone marrow", "equivalent_identifiers": ["HP:0003352", "UMLS:C4025624"], "information_content": 100.0}
{"id": "HP:0003655", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced level of N-acetylglucosaminyltransferase II", "equivalent_identifiers": ["HP:0003655", "UMLS:C4021725"], "information_content": 100.0}
{"id": "MONDO:0033630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with speech impairment and dysmorphic facies", "equivalent_identifiers": ["MONDO:0033630", "DOID:0070417", "OMIM:619056", "UMLS:C5436699", "medgen:1758434"], "information_content": 100.0}
{"id": "MONDO:0100165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "permanent neonatal diabetes mellitus 1", "equivalent_identifiers": ["MONDO:0100165", "OMIM:606176", "UMLS:C5393570", "medgen:1717586"], "information_content": 100.0}
{"id": "MONDO:0010244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CGF1", "equivalent_identifiers": ["MONDO:0010244", "OMIM:300082", "UMLS:C1848140", "medgen:338395"], "information_content": 100.0}
{"id": "MONDO:0032692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 7", "equivalent_identifiers": ["MONDO:0032692", "OMIM:618348", "UMLS:C5193044", "medgen:1679283"], "information_content": 100.0}
{"id": "MONDO:0024456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 3", "equivalent_identifiers": ["MONDO:0024456", "DOID:0080608", "OMIM:601631", "UMLS:C1866560", "UMLS:C1866561", "UMLS:C5975707", "MESH:C535535", "MESH:C566650", "medgen:355748"], "information_content": 100.0}
{"id": "HP:0007990", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic iris stroma", "equivalent_identifiers": ["HP:0007990", "UMLS:C1860344"], "information_content": 95.4}
{"id": "MONDO:0009656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 3B", "equivalent_identifiers": ["MONDO:0009656", "DOID:0111394", "OMIM:252920", "orphanet:79270", "UMLS:C0086648", "NCIT:C84898", "SNOMEDCT:59990008", "medgen:88601", "icd11.foundation:117303909"], "information_content": 100.0}
{"id": "HP:6000360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue alpha-N-acetylglucosaminidase activity", "equivalent_identifiers": ["HP:6000360", "UMLS:C5937154"], "information_content": 100.0}
{"id": "HP:0000250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dense calvaria", "equivalent_identifiers": ["HP:0000250", "UMLS:C1854834"], "information_content": 100.0}
{"id": "MONDO:0006292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant mesothelioma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0006292", "DOID:1790", "OMIM:156240", "orphanet:50251", "EFO:1000355", "UMLS:C0278752", "UMLS:C0345967", "UMLS:C0392400", "UMLS:C1332338", "MESH:C562839", "MESH:D000086002", "MEDDRA:10027407", "MEDDRA:10027408", "MEDDRA:10027410", "NCIT:C27926", "NCIT:C4456", "NCIT:C7865", "NCIT:C8420", "SNOMEDCT:109378008", "SNOMEDCT:62064005", "medgen:91062", "icd11.foundation:369414280", "HP:0100001"], "information_content": 70.9}
{"id": "MONDO:0100105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain small vessel disease 3", "equivalent_identifiers": ["MONDO:0100105", "DOID:0112315", "OMIM:618360", "EFO:0008493", "UMLS:C2733158", "UMLS:C5193053", "MESH:D059345", "MEDDRA:10067466", "MEDDRA:10086408", "SNOMEDCT:443929000", "medgen:1677948"], "information_content": 100.0}
{"id": "HP:0032325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacunar stroke", "equivalent_identifiers": ["HP:0032325", "UMLS:C0333559", "UMLS:C3178801", "MEDDRA:10051078", "MEDDRA:10076994", "MEDDRA:10086133", "MEDDRA:10090092", "MEDDRA:10090096", "SNOMEDCT:230698000", "SNOMEDCT:81037000", "MESH:D059409"], "information_content": 95.4}
{"id": "MONDO:0014888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MIRAGE syndrome", "equivalent_identifiers": ["MONDO:0014888", "OMIM:617053", "orphanet:494433", "UMLS:C4284088", "NCIT:C147530", "SNOMEDCT:1234831009", "medgen:924576"], "information_content": 95.4}
{"id": "MONDO:0000265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aspiration pneumonia", "equivalent_identifiers": ["MONDO:0000265", "DOID:0050152", "UMLS:C0032290", "MESH:D011015", "MEDDRA:10003525", "MEDDRA:10022026", "MEDDRA:10022027", "MEDDRA:10035669", "SNOMEDCT:422588002", "medgen:10814", "ICD10:J69.0", "HP:0011951"], "information_content": 92.8}
{"id": "MONDO:0010675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, cardiac type", "equivalent_identifiers": ["MONDO:0010675", "OMIM:309930", "UMLS:C1442927", "MESH:C563247", "medgen:254845"], "information_content": 100.0}
{"id": "HP:0003167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carnosinuria", "equivalent_identifiers": ["HP:0003167", "UMLS:C3495558", "SNOMEDCT:410051001"], "information_content": 100.0}
{"id": "MONDO:0013190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor XIII, b subunit, deficiency of", "equivalent_identifiers": ["MONDO:0013190", "OMIM:613235", "UMLS:C2750481", "MESH:C567688", "medgen:442490", "HP:0040234"], "information_content": 100.0}
{"id": "HP:0011884", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal umbilical stump bleeding", "equivalent_identifiers": ["HP:0011884", "UMLS:C4023145"], "information_content": 100.0}
{"id": "MONDO:0008704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-limb skeletal dysplasia with severe combined immunodeficiency", "equivalent_identifiers": ["MONDO:0008704", "OMIM:200900", "orphanet:935", "UMLS:C1860168", "MESH:C565984", "SNOMEDCT:789777007", "medgen:348040", "icd11.foundation:469016488"], "information_content": 100.0}
{"id": "MONDO:0014054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoproliferative syndrome 2", "equivalent_identifiers": ["MONDO:0014054", "DOID:0060708", "OMIM:615122", "UMLS:C3554540", "medgen:767454"], "information_content": 100.0}
{"id": "HP:0033509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EBV encephalitis", "equivalent_identifiers": ["HP:0033509", "UMLS:C5539656", "SNOMEDCT:1163099005"], "information_content": 100.0}
{"id": "HP:0033508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EBV meningitis", "equivalent_identifiers": ["HP:0033508", "UMLS:C5539655"], "information_content": 100.0}
{"id": "MONDO:0019115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to melanocortin 4 receptor deficiency", "equivalent_identifiers": ["MONDO:0019115", "OMIM:618406", "orphanet:71529", "UMLS:C4054546", "UMLS:C4273958", "UMLS:C4759928", "UMLS:C5193151", "MEDDRA:10084582", "MEDDRA:10084593", "NCIT:C120394", "SNOMEDCT:717269008", "medgen:903905"], "information_content": 100.0}
{"id": "MONDO:0859355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory poikiloderma with hair abnormalities and acral keratoses", "equivalent_identifiers": ["MONDO:0859355", "DOID:0070510", "OMIM:620199", "UMLS:C5774293", "medgen:1824066"], "information_content": 100.0}
{"id": "HP:0034572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigment incontinence", "equivalent_identifiers": ["HP:0034572", "UMLS:C3280515"], "information_content": 100.0}
{"id": "MONDO:0008484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stapes ankylosis with broad thumbs and toes", "equivalent_identifiers": ["MONDO:0008484", "OMIM:184460", "orphanet:140917", "UMLS:C1866656", "SNOMEDCT:719305006", "medgen:357104", "icd11.foundation:387089262"], "information_content": 100.0}
{"id": "HP:0000466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited neck range of motion", "equivalent_identifiers": ["HP:0000466", "UMLS:C1859212"], "information_content": 100.0}
{"id": "HP:0007943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital stapes ankylosis", "equivalent_identifiers": ["HP:0007943", "UMLS:C1866657"], "information_content": 100.0}
{"id": "MONDO:0012075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligodontia-cancer predisposition syndrome", "equivalent_identifiers": ["MONDO:0012075", "OMIM:608615", "orphanet:300576", "UMLS:C1837750", "MESH:C563898", "medgen:324868"], "information_content": 100.0}
{"id": "MONDO:0010484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 6", "equivalent_identifiers": ["MONDO:0010484", "DOID:0111740", "OMIM:300914", "UMLS:C3806737", "medgen:813067"], "information_content": 100.0}
{"id": "MONDO:0030534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 26 with or without anosmia", "equivalent_identifiers": ["MONDO:0030534", "OMIM:619718", "UMLS:C5676903", "medgen:1811919"], "information_content": 100.0}
{"id": "MONDO:0032733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "global developmental delay, progressive ataxia, and elevated glutamine", "equivalent_identifiers": ["MONDO:0032733", "OMIM:618412", "EFO:0010257", "UMLS:C5193080", "medgen:1680160"], "information_content": 100.0}
{"id": "MONDO:0060585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 9", "equivalent_identifiers": ["MONDO:0060585", "DOID:0111212", "OMIM:617721", "UMLS:C4540265", "medgen:1617571"], "information_content": 100.0}
{"id": "MONDO:0007700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hawkinsinuria", "equivalent_identifiers": ["MONDO:0007700", "DOID:0111362", "OMIM:140350", "orphanet:2118", "UMLS:C2931042", "MESH:C535845", "SNOMEDCT:414380008", "medgen:419319", "icd11.foundation:786595759"], "information_content": 100.0}
{"id": "HP:6001004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine hydroxyphenyllactic acid level", "equivalent_identifiers": ["HP:6001004", "UMLS:C5970344"], "information_content": 100.0}
{"id": "HP:0034457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hawkinsinuria", "equivalent_identifiers": ["HP:0034457", "UMLS:C5779937"], "information_content": 100.0}
{"id": "MONDO:0008578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toe, rotated fifth", "equivalent_identifiers": ["MONDO:0008578", "OMIM:189150", "UMLS:C1861060", "medgen:348254"], "information_content": 100.0}
{"id": "MONDO:0007210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay", "equivalent_identifiers": ["MONDO:0007210", "OMIM:112370", "UMLS:C1862171", "MESH:C566206", "medgen:396307"], "information_content": 100.0}
{"id": "HP:0007560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unusual dermatoglyphics", "equivalent_identifiers": ["HP:0007560", "UMLS:C4024846"], "information_content": 100.0}
{"id": "MONDO:0013644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2O", "equivalent_identifiers": ["MONDO:0013644", "DOID:0110175", "OMIM:614228", "orphanet:284232", "UMLS:C3280220", "SNOMEDCT:782829002", "medgen:481850"], "information_content": 100.0}
{"id": "MONDO:0007762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipoproteinemia type V", "equivalent_identifiers": ["MONDO:0007762", "DOID:0111421", "DOID:1171", "OMIM:144650", "orphanet:530849", "UMLS:C0020481", "UMLS:C3489395", "MESH:D006954", "MEDDRA:10017348", "MEDDRA:10045270", "MEDDRA:10054679", "MEDDRA:10059997", "MEDDRA:10060755", "MEDDRA:10060756", "MEDDRA:10064617", "MEDDRA:10064710", "NCIT:C35645", "SNOMEDCT:34349009", "medgen:5693"], "information_content": 100.0}
{"id": "HP:0003362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased VLDL cholesterol concentration", "equivalent_identifiers": ["HP:0003362", "UMLS:C4021729"], "information_content": 95.4}
{"id": "HP:0012238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating chylomicron concentration", "equivalent_identifiers": ["HP:0012238", "UMLS:C1535978", "MEDDRA:10020606", "MEDDRA:10020607", "MEDDRA:10064233"], "information_content": 95.4}
{"id": "MONDO:0014386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 18", "equivalent_identifiers": ["MONDO:0014386", "DOID:0111051", "OMIM:615888", "orphanet:420566", "UMLS:C4014584", "medgen:863021"], "information_content": 100.0}
{"id": "MONDO:0032710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 72", "equivalent_identifiers": ["MONDO:0032710", "DOID:0112208", "OMIM:618374", "UMLS:C5193063", "medgen:1681879"], "information_content": 100.0}
{"id": "MONDO:0014883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 26", "equivalent_identifiers": ["MONDO:0014883", "DOID:0110327", "OMIM:617047", "UMLS:C4310749", "UMLS:C5830134", "UMLS:C5830135", "UMLS:C5830688", "NCIT:C179295", "medgen:934716"], "information_content": 100.0}
{"id": "MONDO:0010235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-psychosis-macroorchidism syndrome", "equivalent_identifiers": ["MONDO:0010235", "DOID:0060827", "OMIM:300055", "orphanet:3077", "UMLS:C0796222", "UMLS:C1848211", "UMLS:C1968551", "UMLS:C1968552", "MESH:C563139", "MESH:C564724", "MESH:C566876", "MESH:C566877", "SNOMEDCT:702356009", "medgen:163232", "ICD10:F71.1"], "information_content": 100.0}
{"id": "HP:0001118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile cataract", "equivalent_identifiers": ["HP:0001118", "NCIT:C53976", "UMLS:C0302254", "SNOMEDCT:399336001"], "information_content": 95.4}
{"id": "MONDO:0008450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal arachnoiditis", "equivalent_identifiers": ["MONDO:0008450", "OMIM:182950", "UMLS:C1710146", "MESH:C531624", "MEDDRA:10068160", "NCIT:C50749", "SNOMEDCT:426055002", "medgen:318191", "icd11.foundation:1074591848"], "information_content": 100.0}
{"id": "MONDO:0033665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 78", "equivalent_identifiers": ["MONDO:0033665", "DOID:0112159", "OMIM:619081", "UMLS:C5436768", "medgen:1777362"], "information_content": 100.0}
{"id": "MONDO:0014375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital diarrhea 7 with exudative enteropathy", "equivalent_identifiers": ["MONDO:0014375", "DOID:0060778", "OMIM:615863", "orphanet:329242", "UMLS:C4014516", "medgen:862953"], "information_content": 100.0}
{"id": "HP:0011848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal colic", "equivalent_identifiers": ["HP:0011848", "NCIT:C34494", "UMLS:C0232488", "UMLS:C3665357", "MEDDRA:10000055", "MEDDRA:10009881", "MEDDRA:10009882", "SNOMEDCT:9991008", "MESH:D003085"], "information_content": 92.8}
{"id": "MONDO:0060663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 5", "equivalent_identifiers": ["MONDO:0060663", "OMIM:617912", "UMLS:C4693563", "medgen:1636547"], "information_content": 100.0}
{"id": "MONDO:0859336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, congenital, with or without seizures", "equivalent_identifiers": ["MONDO:0859336", "OMIM:620166", "UMLS:C5774274", "medgen:1824047"], "information_content": 100.0}
{"id": "MONDO:0009516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "absence deformity of leg-cataract syndrome", "equivalent_identifiers": ["MONDO:0009516", "OMIM:246000", "orphanet:2310", "UMLS:C1855523", "MESH:C565442", "medgen:343374"], "information_content": 100.0}
{"id": "HP:0002814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the lower limb", "equivalent_identifiers": ["HP:0002814", "UMLS:C1096086", "MEDDRA:10053640", "SNOMEDCT:449715001"], "information_content": 51.9}
{"id": "HP:0009136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication involving bones of the feet", "equivalent_identifiers": ["HP:0009136", "UMLS:C4024578"], "information_content": 81.3}
{"id": "MONDO:0010218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX sex reversal 2", "equivalent_identifiers": ["MONDO:0010218", "DOID:0111763", "OMIM:278850", "UMLS:C2749215", "medgen:411414"], "information_content": 100.0}
{"id": "HP:0011842", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal skeletal morphology", "equivalent_identifiers": ["HP:0011842", "UMLS:C4023165"], "information_content": 41.4}
{"id": "MONDO:0014380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colobomatous microphthalmia-rhizomelic dysplasia syndrome", "equivalent_identifiers": ["MONDO:0014380", "DOID:0111802", "OMIM:615877", "orphanet:424099", "UMLS:C4014540", "medgen:862977"], "information_content": 100.0}
{"id": "MONDO:0009443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 4B", "equivalent_identifiers": ["MONDO:0009443", "DOID:0060713", "OMIM:242500", "orphanet:457", "UMLS:C0598226", "MESH:C538424", "MEDDRA:10087827", "NCIT:C98934", "SNOMEDCT:205548006", "medgen:108615", "ICD10:Q80.4"], "information_content": 100.0}
{"id": "MONDO:0033673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 46", "equivalent_identifiers": ["MONDO:0033673", "DOID:0112164", "OMIM:619095", "UMLS:C5436799", "medgen:1726728"], "information_content": 100.0}
{"id": "MONDO:0012241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3", "equivalent_identifiers": ["MONDO:0012241", "DOID:0111520", "OMIM:609286", "UMLS:C1836439", "MESH:C563747", "medgen:373087"], "information_content": 100.0}
{"id": "MONDO:0003240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid disease", "equivalent_identifiers": ["MONDO:0003240", "DOID:50", "EFO:1000627", "UMLS:C0040128", "UMLS:C4317107", "MESH:D013959", "MEDDRA:10013274", "MEDDRA:10043709", "MEDDRA:10043710", "MEDDRA:10043739", "MEDDRA:10045832", "NCIT:C26893", "SNOMEDCT:14304000", "medgen:1378579", "ICD10:E07.9", "ICD9:246.9", "HP:0000820"], "information_content": 60.2}
{"id": "MONDO:0009265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease type I", "equivalent_identifiers": ["MONDO:0009265", "DOID:0110957", "OMIM:230800", "orphanet:77259", "UMLS:C1961835", "MEDDRA:10075697", "SNOMEDCT:62201009", "medgen:409531"], "information_content": 100.0}
{"id": "HP:6001185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating glucosylsphingosine concentration", "equivalent_identifiers": ["HP:6001185"], "information_content": 100.0}
{"id": "MONDO:0009536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation", "equivalent_identifiers": ["MONDO:0009536", "OMIM:247450", "UMLS:C1855474", "MESH:C565431", "medgen:340881"], "information_content": 100.0}
{"id": "MONDO:0014908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 17, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014908", "DOID:0070288", "OMIM:617090", "UMLS:C4310723", "medgen:934690"], "information_content": 100.0}
{"id": "MONDO:0008980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-hypogonadism-choroidal dystrophy syndrome", "equivalent_identifiers": ["MONDO:0008980", "DOID:0111265", "OMIM:215470", "orphanet:1180", "UMLS:C1859093", "MESH:C565850", "SNOMEDCT:715984007", "medgen:347798"], "information_content": 100.0}
{"id": "HP:0001135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal dystrophy", "equivalent_identifiers": ["HP:0001135", "UMLS:C1857627"], "information_content": 100.0}
{"id": "HP:0033206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperactive Achilles reflex", "equivalent_identifiers": ["HP:0033206", "UMLS:C5421683"], "information_content": 100.0}
{"id": "MONDO:0020380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant cerebellar ataxia", "equivalent_identifiers": ["MONDO:0020380", "DOID:1441", "OMIM.PS:164400", "orphanet:99", "UMLS:C0087012", "UMLS:C4087347", "MESH:D020754", "MEDDRA:10057660", "MEDDRA:10077339", "SNOMEDCT:129609000", "medgen:1684639", "HP:0007263"], "information_content": 72.5}
{"id": "HP:0009072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased Achilles reflex", "equivalent_identifiers": ["HP:0009072", "UMLS:C1837323"], "information_content": 100.0}
{"id": "MONDO:0800030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastrointestinal defects and immunodeficiency syndrome 1", "equivalent_identifiers": ["MONDO:0800030", "OMIM:243150", "orphanet:436252", "UMLS:C5680044", "SNOMEDCT:1197428008", "medgen:1806192"], "information_content": 100.0}
{"id": "HP:0025023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectal atresia", "equivalent_identifiers": ["HP:0025023", "UMLS:C0549173", "MEDDRA:10038031", "SNOMEDCT:91375006"], "information_content": 100.0}
{"id": "MONDO:0010562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colonic atresia", "equivalent_identifiers": ["MONDO:0010562", "OMIM:303650", "orphanet:1198", "UMLS:C0266190", "MESH:C562562", "NCIT:C101024", "SNOMEDCT:37054000", "medgen:75605", "HP:0010448"], "information_content": 95.4}
{"id": "HP:0032220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interface hepatitis", "equivalent_identifiers": ["HP:0032220", "UMLS:C5139205"], "information_content": 100.0}
{"id": "MONDO:0016580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital pulmonary airway malformation", "equivalent_identifiers": ["MONDO:0016580", "orphanet:2444", "UMLS:C0010668", "MESH:D015615", "MEDDRA:10087693", "MEDDRA:10087694", "NCIT:C98892", "SNOMEDCT:111318005", "medgen:8225", "icd11.foundation:2091138945", "HP:0010959"], "information_content": 88.2}
{"id": "MONDO:0012410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finnish upper limb-onset distal myopathy", "equivalent_identifiers": ["MONDO:0012410", "DOID:0111189", "OMIM:610099", "orphanet:399086", "UMLS:C1864706", "MESH:C566445", "SNOMEDCT:763718009", "medgen:400595"], "information_content": 100.0}
{"id": "MONDO:0859255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral motor neuropathy, childhood-onset, biotin-responsive", "equivalent_identifiers": ["MONDO:0859255", "OMIM:619903", "UMLS:C5676997", "medgen:1809728"], "information_content": 100.0}
{"id": "HP:0007181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interosseus muscle atrophy", "equivalent_identifiers": ["HP:0007181", "UMLS:C1846829"], "information_content": 95.4}
{"id": "MONDO:0054740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharocheilodontic syndrome 1", "equivalent_identifiers": ["MONDO:0054740", "DOID:0080345", "OMIM:119580", "UMLS:C4551988", "medgen:1632198"], "information_content": 100.0}
{"id": "HP:0004471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia cutis congenita over the scalp vertex", "equivalent_identifiers": ["HP:0004471", "UMLS:C1970112"], "information_content": 95.4}
{"id": "MONDO:0007695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hairy palms and soles", "equivalent_identifiers": ["MONDO:0007695", "OMIM:139650", "UMLS:C1841694", "MESH:C535620", "medgen:330667"], "information_content": 100.0}
{"id": "MONDO:0008552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 16", "equivalent_identifiers": ["MONDO:0008552", "DOID:0060691", "OMIM:187800", "UMLS:C1861195", "UMLS:C5442010", "MESH:C566061", "medgen:1781222"], "information_content": 100.0}
{"id": "MONDO:0020728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypouricemia, renal 1", "equivalent_identifiers": ["MONDO:0020728", "OMIM:220150", "UMLS:C0473219", "medgen:141632"], "information_content": 100.0}
{"id": "MONDO:0003652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute urate nephropathy", "equivalent_identifiers": ["MONDO:0003652", "DOID:580", "UMLS:C0341712", "UMLS:C0403719", "MEDDRA:10046503", "NCIT:C123037", "NCIT:C123245", "SNOMEDCT:236496000", "SNOMEDCT:267441009", "medgen:574593", "icd11.foundation:1011901523", "ICD9:274.11", "HP:0000791"], "information_content": 95.4}
{"id": "HP:0100520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oliguria", "equivalent_identifiers": ["HP:0100520", "NCIT:C114698", "UMLS:C0028961", "MEDDRA:10030302", "SNOMEDCT:718403007", "SNOMEDCT:83128009", "MESH:D009846"], "information_content": 100.0}
{"id": "HP:6000746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated fractional excretion of urate", "equivalent_identifiers": ["HP:6000746", "UMLS:C5937474"], "information_content": 100.0}
{"id": "MONDO:0011058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 9", "equivalent_identifiers": ["MONDO:0011058", "DOID:0110593", "OMIM:601369", "UMLS:C1832425", "MESH:C563335", "medgen:371327"], "information_content": 100.0}
{"id": "HP:0009591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vestibulocochlear nerve morphology", "equivalent_identifiers": ["HP:0009591", "UMLS:C4021431"], "information_content": 81.3}
{"id": "HP:0008596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postlingual sensorineural hearing impairment", "equivalent_identifiers": ["HP:0008596", "UMLS:C4024654"], "information_content": 100.0}
{"id": "MONDO:0009678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "equivalent_identifiers": ["MONDO:0009678", "DOID:0050559", "OMIM:253800", "orphanet:272", "UMLS:C0410174", "NCIT:C126741", "SNOMEDCT:111502003", "medgen:140820"], "information_content": 100.0}
{"id": "HP:0007348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the pyramidal tract", "equivalent_identifiers": ["HP:0007348", "UMLS:C1850871"], "information_content": 100.0}
{"id": "MONDO:0012186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group I", "equivalent_identifiers": ["MONDO:0012186", "DOID:0111091", "OMIM:609053", "UMLS:C1836861", "MESH:C563802", "NCIT:C129026", "medgen:323016"], "information_content": 92.8}
{"id": "MONDO:0011299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huntington disease-like 1", "equivalent_identifiers": ["MONDO:0011299", "DOID:0090103", "OMIM:603218", "orphanet:157941", "UMLS:C1864112", "MESH:C566398", "SNOMEDCT:784371009", "medgen:355137", "ICD10:G10"], "information_content": 100.0}
{"id": "MONDO:0012859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 7", "equivalent_identifiers": ["MONDO:0012859", "DOID:0110946", "OMIM:612301", "orphanet:178389", "UMLS:C2676766", "MESH:C567354", "medgen:436770", "ICD10:Q78.2"], "information_content": 100.0}
{"id": "HP:0100671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal trabecular bone morphology", "equivalent_identifiers": ["HP:0100671", "UMLS:C4020957"], "information_content": 92.8}
{"id": "MONDO:0011475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4B2", "equivalent_identifiers": ["MONDO:0011475", "DOID:0110190", "OMIM:604563", "orphanet:99956", "UMLS:C1858278", "UMLS:C1858279", "UMLS:C1858280", "MESH:C535421", "MESH:C535422", "MESH:C565761", "SNOMEDCT:715800000", "medgen:346869", "icd11.foundation:393759720"], "information_content": 100.0}
{"id": "MONDO:0010922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Satoyoshi syndrome", "equivalent_identifiers": ["MONDO:0010922", "OMIM:600705", "orphanet:3130", "UMLS:C1833454", "MESH:C536616", "MEDDRA:10070579", "SNOMEDCT:763630007", "medgen:318882"], "information_content": 100.0}
{"id": "MONDO:0010292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uruguay Faciocardiomusculoskeletal syndrome", "equivalent_identifiers": ["MONDO:0010292", "DOID:0112148", "OMIM:300280", "UMLS:C1846010", "MESH:C564544", "medgen:335320"], "information_content": 100.0}
{"id": "HP:0000339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pugilistic facies", "equivalent_identifiers": ["HP:0000339", "UMLS:C1846011"], "information_content": 100.0}
{"id": "HP:0008141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dislocation of toes", "equivalent_identifiers": ["HP:0008141", "UMLS:C0434717", "MEDDRA:10013159", "MEDDRA:10043918", "SNOMEDCT:263030002"], "information_content": 100.0}
{"id": "MONDO:0009907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prepapillary vascular loops", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009907", "OMIM:264060", "UMLS:C1828066", "MESH:C563287", "SNOMEDCT:424728002", "medgen:316814"], "information_content": 100.0}
{"id": "MONDO:0013417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C3 Deficiency", "equivalent_identifiers": ["MONDO:0013417", "DOID:8354", "OMIM:613779", "orphanet:280133", "UMLS:C1332655", "UMLS:C3151071", "MESH:C565169", "NCIT:C9468", "SNOMEDCT:771443008", "medgen:462421"], "information_content": 90.9}
{"id": "OMIM:133180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO", "equivalent_identifiers": ["OMIM:133180", "UMLS:C5552985"]}
{"id": "MONDO:0019157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelodysplastic syndrome with ring sideroblasts", "equivalent_identifiers": ["MONDO:0019157", "orphanet:75564", "EFO:0003812", "UMLS:C1264195", "UMLS:C2826330", "UMLS:C4016601", "UMLS:C4330726", "MEDDRA:10038272", "MEDDRA:10054594", "MEDDRA:10088024", "NCIT:C130037", "NCIT:C4036", "NCIT:C82616", "SNOMEDCT:109998009", "SNOMEDCT:128846006", "medgen:865038", "icd11.foundation:1793160341", "HP:0004828"], "information_content": 92.8}
{"id": "MONDO:0014712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome 9", "equivalent_identifiers": ["MONDO:0014712", "OMIM:616629", "UMLS:C4225263", "medgen:899086"], "information_content": 100.0}
{"id": "MONDO:0011050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-cardiac defect-lung malsegmentation syndrome", "equivalent_identifiers": ["MONDO:0011050", "OMIM:601355", "orphanet:2516", "UMLS:C1832436", "UMLS:C2931129", "MESH:C536205", "MESH:C563341", "SNOMEDCT:719379001", "medgen:371329"], "information_content": 100.0}
{"id": "MONDO:0009936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial primary pulmonary hypoplasia", "equivalent_identifiers": ["MONDO:0009936", "OMIM:265430", "orphanet:2257", "UMLS:C0456891", "SNOMEDCT:277656005", "medgen:141589", "icd11.foundation:1778475393"], "information_content": 100.0}
{"id": "MONDO:0007286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 30", "equivalent_identifiers": ["MONDO:0007286", "DOID:0110248", "OMIM:116300", "UMLS:C1861827", "UMLS:C3805411", "MESH:C566157", "medgen:811741"], "information_content": 100.0}
{"id": "HP:0007657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse nuclear cataract", "equivalent_identifiers": ["HP:0007657", "UMLS:C4024821"], "information_content": 100.0}
{"id": "MONDO:0044323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rahman syndrome", "equivalent_identifiers": ["MONDO:0044323", "OMIM:617537", "orphanet:642763", "UMLS:C4479637", "SNOMEDCT:1304277005", "medgen:1388282"], "information_content": 100.0}
{"id": "MONDO:0032830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "snijders blok-fisher syndrome", "equivalent_identifiers": ["MONDO:0032830", "OMIM:618604", "orphanet:656135", "EFO:0010634", "UMLS:C5231424", "SNOMEDCT:1351837003", "medgen:1684801"], "information_content": 100.0}
{"id": "MONDO:0013403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 4, autosomal", "equivalent_identifiers": ["MONDO:0013403", "DOID:0051019", "OMIM:613751", "UMLS:C3151057", "medgen:462407"], "information_content": 100.0}
{"id": "HP:0010452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic spleen", "equivalent_identifiers": ["HP:0010452", "UMLS:C0266632", "SNOMEDCT:65146007"], "information_content": 95.4}
{"id": "HP:0034188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline liver", "equivalent_identifiers": ["HP:0034188", "UMLS:C3553677"], "information_content": 100.0}
{"id": "OMIM:613989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2", "equivalent_identifiers": ["OMIM:613989", "UMLS:C3151443", "UMLS:C3151444", "NCIT:C176922"], "information_content": 100.0}
{"id": "HP:0012227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethral stricture", "equivalent_identifiers": ["HP:0012227"], "information_content": 90.9}
{"id": "MONDO:0014000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 2", "equivalent_identifiers": ["MONDO:0014000", "OMIM:614980", "UMLS:C3554279", "medgen:767193"], "information_content": 100.0}
{"id": "HP:0004764", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myxomatous mitral valve degeneration", "equivalent_identifiers": ["HP:0004764", "UMLS:C0264885", "UMLS:C4721438", "MEDDRA:10077377", "MEDDRA:10089005", "SNOMEDCT:253395003", "SNOMEDCT:42069006"], "information_content": 100.0}
{"id": "MONDO:0007791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypocalciuric hypercalcemia 1", "equivalent_identifiers": ["MONDO:0007791", "DOID:0060700", "OMIM:145980", "orphanet:93372", "UMLS:C0342637", "UMLS:C1840348", "MESH:C537145", "MESH:C564151", "MEDDRA:10085357", "MEDDRA:10085358", "SNOMEDCT:704166007", "medgen:137973"], "information_content": 100.0}
{"id": "HP:0002918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermagnesemia", "equivalent_identifiers": ["HP:0002918", "NCIT:C37969", "UMLS:C0151714", "UMLS:C1522135", "MEDDRA:10020669", "MEDDRA:10020670", "SNOMEDCT:66978005"], "information_content": 92.8}
{"id": "MONDO:0007216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A2", "equivalent_identifiers": ["MONDO:0007216", "DOID:0110965", "OMIM:112600", "orphanet:93396", "UMLS:C1832702", "MESH:C537089", "SNOMEDCT:720569006", "medgen:318690", "icd11.foundation:594491464", "HP:0009372"], "information_content": 100.0}
{"id": "HP:0009182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped middle phalanx of the 5th finger", "equivalent_identifiers": ["HP:0009182", "UMLS:C4024552"], "information_content": 95.4}
{"id": "HP:0008096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medially deviated second toe", "equivalent_identifiers": ["HP:0008096", "UMLS:C1862147"], "information_content": 100.0}
{"id": "HP:0009575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped middle phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009575", "UMLS:C4024283"], "information_content": 100.0}
{"id": "MONDO:0014989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uncombable hair syndrome 2", "equivalent_identifiers": ["MONDO:0014989", "OMIM:617251", "UMLS:C4310649", "medgen:934616"], "information_content": 100.0}
{"id": "MONDO:0032571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Krakow type", "equivalent_identifiers": ["MONDO:0032571", "OMIM:618162", "UMLS:C4748455", "medgen:1648323"], "information_content": 100.0}
{"id": "MONDO:0032580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 17", "equivalent_identifiers": ["MONDO:0032580", "DOID:0080392", "OMIM:618176", "UMLS:C4748545", "medgen:1648294"], "information_content": 100.0}
{"id": "MONDO:0012707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial febrile seizures 9", "equivalent_identifiers": ["MONDO:0012707", "DOID:0111303", "OMIM:611634", "UMLS:C1968846", "MESH:C566901", "medgen:369868"], "information_content": 100.0}
{"id": "MONDO:0859136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzahrani-Kuwahara syndrome", "equivalent_identifiers": ["MONDO:0859136", "OMIM:619268", "UMLS:C5543274", "medgen:1782127"], "information_content": 100.0}
{"id": "HP:0004961", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary artery sling", "equivalent_identifiers": ["HP:0004961", "UMLS:C1856123"], "information_content": 100.0}
{"id": "HP:0011829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow philtrum", "equivalent_identifiers": ["HP:0011829", "UMLS:C4021115"], "information_content": 100.0}
{"id": "HP:0031298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coronary sinus enlargement", "equivalent_identifiers": ["HP:0031298", "UMLS:C4531220", "MEDDRA:10082615"], "information_content": 100.0}
{"id": "MONDO:0011078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "equivalent_identifiers": ["MONDO:0011078", "OMIM:601427", "orphanet:2321", "UMLS:C1832362", "MESH:C537694", "medgen:316973"], "information_content": 100.0}
{"id": "HP:0008736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of penis", "equivalent_identifiers": ["HP:0008736", "UMLS:C0266435", "SNOMEDCT:34911001"], "information_content": 92.8}
{"id": "MONDO:0009087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, neural, congenital moderate", "equivalent_identifiers": ["MONDO:0009087", "OMIM:221500", "UMLS:C1857337", "MESH:C565640", "medgen:347425"], "information_content": 100.0}
{"id": "MONDO:0958179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycine encephalopathy 1", "equivalent_identifiers": ["MONDO:0958179", "DOID:0070616", "OMIM:605899"], "information_content": 100.0}
{"id": "HP:0100247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hiccough", "equivalent_identifiers": ["HP:0100247", "NCIT:C37966", "UMLS:C0019521", "UMLS:C0744897", "MEDDRA:10020037", "MEDDRA:10020038", "MEDDRA:10020039", "MEDDRA:10040732", "MEDDRA:10040733", "MEDDRA:10040734", "SNOMEDCT:65958008", "MESH:D006606"], "information_content": 95.4}
{"id": "MONDO:0100288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enhanced S-cone syndrome", "equivalent_identifiers": ["MONDO:0100288", "DOID:0090059", "OMIM:268100", "UMLS:C1849394", "MESH:C564835", "medgen:341446"], "information_content": 100.0}
{"id": "MONDO:0004579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinoschisis", "equivalent_identifiers": ["MONDO:0004579", "DOID:8465", "UMLS:C0152439", "MESH:D041441", "MEDDRA:10038939", "MEDDRA:10038940", "MEDDRA:10061492", "NCIT:C85046", "SNOMEDCT:44268007", "medgen:56292", "icd11.foundation:1118046584", "ICD10:H33.10", "ICD9:361.10", "HP:0030502"], "information_content": 88.2}
{"id": "MONDO:0007936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy, fenestrated sheen type", "equivalent_identifiers": ["MONDO:0007936", "OMIM:153890", "UMLS:C1835173", "MESH:C563607", "medgen:331921"], "information_content": 100.0}
{"id": "MONDO:0976136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular pterygium-digital keloid dysplasia syndrome", "equivalent_identifiers": ["MONDO:0976136", "OMIM:621091", "UMLS:C5975613"], "information_content": 100.0}
{"id": "HP:0010938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal external nose morphology", "equivalent_identifiers": ["HP:0010938", "UMLS:C2164724", "UMLS:C4023638", "UMLS:C4280360"], "information_content": 74.3}
{"id": "MONDO:0001055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjunctival pterygium", "equivalent_identifiers": ["MONDO:0001055", "DOID:10526", "UMLS:C4520843", "MEDDRA:10037263", "MEDDRA:10037265", "MEDDRA:10081845", "medgen:1625284", "HP:0034363"], "information_content": 92.8}
{"id": "HP:0000326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal maxilla morphology", "equivalent_identifiers": ["HP:0000326", "UMLS:C4025862"], "information_content": 74.1}
{"id": "MONDO:0011039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrophia maculosa varioliformis cutis, familial", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0011039", "OMIM:601341", "UMLS:C1832465", "MESH:C563349", "medgen:371334"], "information_content": 100.0}
{"id": "MONDO:0056797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with midbrain and hindbrain malformations", "equivalent_identifiers": ["MONDO:0056797", "DOID:0080312", "OMIM:617523", "UMLS:C4479613", "medgen:1385580"], "information_content": 100.0}
{"id": "MONDO:0957260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined low LDL and fibrinogen", "equivalent_identifiers": ["MONDO:0957260", "OMIM:620364", "UMLS:C5830484", "medgen:1841120"], "information_content": 100.0}
{"id": "MONDO:0011932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 6", "equivalent_identifiers": ["MONDO:0011932", "DOID:0110703", "OMIM:607903", "UMLS:C1842839", "MESH:C564312", "medgen:335812"], "information_content": 100.0}
{"id": "MONDO:0032937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, congenital proximal, with minicore lesions", "equivalent_identifiers": ["MONDO:0032937", "DOID:0081344", "OMIM:618823", "UMLS:C5394193", "medgen:1717569"], "information_content": 100.0}
{"id": "MONDO:0008859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification", "equivalent_identifiers": ["MONDO:0008859", "OMIM:210050", "UMLS:C1859519", "MESH:C565905", "medgen:347170"], "information_content": 100.0}
{"id": "HP:0007029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral berry aneurysm", "equivalent_identifiers": ["HP:0007029", "UMLS:C2713497", "MEDDRA:10039347", "SNOMEDCT:54002007"], "information_content": 100.0}
{"id": "HP:0007238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonarteriosclerotic cerebral calcification", "equivalent_identifiers": ["HP:0007238", "UMLS:C4021579"], "information_content": 100.0}
{"id": "MONDO:0009526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", "equivalent_identifiers": ["MONDO:0009526", "OMIM:246570", "UMLS:C1855499", "MESH:C565436", "SNOMEDCT:783156008", "medgen:340887"], "information_content": 100.0}
{"id": "MONDO:0009806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bruck syndrome 1", "equivalent_identifiers": ["MONDO:0009806", "OMIM:259450", "UMLS:C1850168", "MESH:C537406", "medgen:342431"], "information_content": 100.0}
{"id": "MONDO:0010281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Danon disease", "equivalent_identifiers": ["MONDO:0010281", "DOID:0050437", "OMIM:300257", "orphanet:34587", "EFO:1001333", "UMLS:C0878677", "MESH:D052120", "MEDDRA:10071756", "NCIT:C84735", "SNOMEDCT:419097006", "medgen:209235", "icd11.foundation:1233188442"], "information_content": 100.0}
{"id": "MONDO:0957874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 9", "equivalent_identifiers": ["MONDO:0957874", "DOID:0081428", "OMIM:620402", "UMLS:C5882672", "medgen:1850177"], "information_content": 100.0}
{"id": "MONDO:0851095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "KINSSHIP syndrome", "equivalent_identifiers": ["MONDO:0851095", "DOID:0112383", "OMIM:619297", "UMLS:C5543317", "medgen:1779339"], "information_content": 100.0}
{"id": "MONDO:0032592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2c", "equivalent_identifiers": ["MONDO:0032592", "DOID:0081159", "OMIM:618189", "UMLS:C4748647", "NCIT:C186785", "medgen:1648379"], "information_content": 100.0}
{"id": "MONDO:0957308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 90A, autosomal dominant", "equivalent_identifiers": ["MONDO:0957308", "DOID:0070459", "OMIM:620416", "UMLS:C5830574", "medgen:1841210"], "information_content": 100.0}
{"id": "MONDO:0010278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Christianson syndrome", "equivalent_identifiers": ["MONDO:0010278", "DOID:0060825", "OMIM:300243", "orphanet:85278", "UMLS:C1846130", "UMLS:C2678194", "MESH:C537450", "MESH:C567484", "NCIT:C181001", "SNOMEDCT:702354007", "medgen:394455"], "information_content": 100.0}
{"id": "HP:0006794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of ability to walk in first decade", "equivalent_identifiers": ["HP:0006794", "UMLS:C1846133"], "information_content": 100.0}
{"id": "HP:0007207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Photosensitive tonic-clonic seizure", "equivalent_identifiers": ["HP:0007207", "UMLS:C1846131"], "information_content": 100.0}
{"id": "MONDO:0975951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia, mitochondrial", "equivalent_identifiers": ["MONDO:0975951", "OMIM:500018", "UMLS:C5974902"], "information_content": 100.0}
{"id": "HP:0012078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor conduction block", "equivalent_identifiers": ["HP:0012078", "UMLS:C4023056"], "information_content": 100.0}
{"id": "MONDO:0009601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal dysplasia without hypotrichosis", "equivalent_identifiers": ["MONDO:0009601", "OMIM:250460", "UMLS:C1834821", "MESH:C563574", "medgen:320444"], "information_content": 100.0}
{"id": "HP:0031367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal striations", "equivalent_identifiers": ["HP:0031367", "UMLS:C1849081"], "information_content": 92.8}
{"id": "MONDO:0010755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesicoureteral reflux, X-linked", "equivalent_identifiers": ["MONDO:0010755", "OMIM:314550", "UMLS:C1839114", "MESH:C564042", "medgen:374134"], "information_content": 100.0}
{"id": "MONDO:0957266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RECON progeroid syndrome", "equivalent_identifiers": ["MONDO:0957266", "OMIM:620370", "UMLS:C5830504", "medgen:1841140"], "information_content": 100.0}
{"id": "HP:0008407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperconvex thumb nails", "equivalent_identifiers": ["HP:0008407", "UMLS:C1855290"], "information_content": 100.0}
{"id": "HP:0025337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Red eye", "equivalent_identifiers": ["HP:0025337", "NCIT:C50725", "UMLS:C0235267", "MEDDRA:10015962", "MEDDRA:10015963", "MEDDRA:10016009", "MEDDRA:10038189", "MEDDRA:10038205", "SNOMEDCT:703630003"], "information_content": 82.1}
{"id": "MONDO:0013424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3p- syndrome", "equivalent_identifiers": ["MONDO:0013424", "DOID:0060417", "OMIM:613792", "orphanet:1620", "UMLS:C0795806", "UMLS:C4706503", "MESH:C536804", "SNOMEDCT:449819002", "SNOMEDCT:763528002", "medgen:1643555"], "information_content": 100.0}
{"id": "MONDO:0021571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple sclerosis, susceptibility to 1", "equivalent_identifiers": ["MONDO:0021571", "OMIM:126200", "UMLS:C3888106", "medgen:854774"], "information_content": 100.0}
{"id": "HP:0000019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary hesitancy", "equivalent_identifiers": ["HP:0000019", "NCIT:C123246", "UMLS:C0152032", "MEDDRA:10020009", "MEDDRA:10020010", "MEDDRA:10046541", "MEDDRA:10046542", "SNOMEDCT:5972002"], "information_content": 100.0}
{"id": "MONDO:0957254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A", "equivalent_identifiers": ["MONDO:0957254", "DOID:0070461", "OMIM:620358", "UMLS:C5830480", "medgen:1841116"], "information_content": 100.0}
{"id": "MONDO:0009797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orotic aciduria", "equivalent_identifiers": ["MONDO:0009797", "DOID:0050833", "OMIM:258900", "orphanet:30", "UMLS:C0220987", "UMLS:C0268128", "UMLS:C0268130", "MESH:C537136", "MEDDRA:10052621", "MEDDRA:10052631", "NCIT:C98944", "SNOMEDCT:124277009", "SNOMEDCT:16242007", "SNOMEDCT:47641009", "SNOMEDCT:69525003", "medgen:472940", "icd11.foundation:449856959", "HP:0003218"], "information_content": 95.4}
{"id": "MONDO:0010707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paine syndrome", "equivalent_identifiers": ["MONDO:0010707", "OMIM:311400", "UMLS:C1412041", "MESH:C538101", "medgen:234691"], "information_content": 100.0}
{"id": "MONDO:0007390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coumarin resistance", "equivalent_identifiers": ["MONDO:0007390", "DOID:0080665", "DOID:0080666", "OMIM:122700", "OMIM:122720", "UMLS:C0750384", "UMLS:C1852514", "UMLS:C1852516", "UMLS:C2608079", "UMLS:C2675747", "UMLS:C4017430", "UMLS:C4017431", "UMLS:C4017432", "UMLS:C4017433", "UMLS:C4017434", "UMLS:C4017435", "UMLS:C4017436", "MESH:C563039", "MESH:C567080", "MESH:C567276", "SNOMEDCT:726543008", "medgen:148193"], "information_content": 100.0}
{"id": "MONDO:0014205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome", "equivalent_identifiers": ["MONDO:0014205", "DOID:0080893", "OMIM:615485", "orphanet:352577", "UMLS:C4750837", "MESH:C000726367", "SNOMEDCT:773400009", "medgen:1656239"], "information_content": 100.0}
{"id": "MONDO:0008887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiectasis with or without elevated sweat chloride 1", "equivalent_identifiers": ["MONDO:0008887", "DOID:0080526", "OMIM:211400", "UMLS:C2749757", "MESH:C567618", "medgen:440868"], "information_content": 100.0}
{"id": "MONDO:0014209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome", "equivalent_identifiers": ["MONDO:0014209", "DOID:0112344", "OMIM:615491", "orphanet:352654", "UMLS:C3809665", "medgen:815995"], "information_content": 100.0}
{"id": "MONDO:0014525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 23", "equivalent_identifiers": ["MONDO:0014525", "DOID:0111500", "OMIM:616198", "orphanet:444013", "EFO:0009033", "UMLS:C5567743", "NCIT:C187986", "SNOMEDCT:1173036000", "medgen:1799166"], "information_content": 100.0}
{"id": "MONDO:0054560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anauxetic dysplasia 1", "equivalent_identifiers": ["MONDO:0054560", "DOID:0050640", "OMIM:607095", "UMLS:C4551965", "medgen:1638106"], "information_content": 100.0}
{"id": "HP:0003308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical subluxation", "equivalent_identifiers": ["HP:0003308", "UMLS:C1846798"], "information_content": 92.8}
{"id": "MONDO:0010353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-intellectual disability, Martin-Probst type syndrome", "equivalent_identifiers": ["MONDO:0010353", "DOID:0060830", "OMIM:300519", "orphanet:85321", "UMLS:C1845285", "MESH:C564495", "SNOMEDCT:721087008", "medgen:375620"], "information_content": 100.0}
{"id": "MONDO:0011066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4B1", "equivalent_identifiers": ["MONDO:0011066", "DOID:0110191", "OMIM:601382", "orphanet:99955", "UMLS:C1832399", "MESH:C535420", "SNOMEDCT:715803003", "medgen:321947", "icd11.foundation:776238355"], "information_content": 100.0}
{"id": "HP:0007208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular myelin loops", "equivalent_identifiers": ["HP:0007208", "UMLS:C4024922"], "information_content": 100.0}
{"id": "MONDO:0008972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic chondrodysplasia punctata type 1", "equivalent_identifiers": ["MONDO:0008972", "DOID:0110851", "OMIM:215100", "orphanet:309789", "UMLS:C1859133", "MESH:C531651", "SNOMEDCT:1003862001", "medgen:347072", "icd11.foundation:44503513"], "information_content": 100.0}
{"id": "HP:0001525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe failure to thrive", "equivalent_identifiers": ["HP:0001525", "UMLS:C1855514"], "information_content": 100.0}
{"id": "HP:0005841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcific stippling of infantile cartilaginous skeleton", "equivalent_identifiers": ["HP:0005841", "UMLS:C1859135"], "information_content": 100.0}
{"id": "MONDO:0007601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial Mediterranean fever, autosomal dominant", "equivalent_identifiers": ["MONDO:0007601", "OMIM:134610", "UMLS:C1851347", "MESH:C565021", "medgen:341987"], "information_content": 100.0}
{"id": "MONDO:0009492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "succinyl-CoA:3-ketoacid CoA transferase deficiency", "equivalent_identifiers": ["MONDO:0009492", "OMIM:245050", "orphanet:832", "UMLS:C0342792", "MESH:C537527", "SNOMEDCT:238004006", "medgen:137979"], "information_content": 100.0}
{"id": "HP:6000361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000361", "UMLS:C5937155"], "information_content": 100.0}
{"id": "MONDO:0009934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alveolar capillary dysplasia with misalignment of pulmonary veins", "equivalent_identifiers": ["MONDO:0009934", "DOID:13042", "OMIM:265380", "orphanet:210122", "UMLS:C2677362", "UMLS:C2960310", "MESH:C536590", "MEDDRA:10077023", "NCIT:C98809", "SNOMEDCT:447275002", "SNOMEDCT:708028001", "medgen:755478", "ICD10:P29.3", "ICD9:747.83", "HP:0033208"], "information_content": 100.0}
{"id": "HP:0030732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic tricuspid valve", "equivalent_identifiers": ["HP:0030732", "UMLS:C4255215", "SNOMEDCT:762254000"], "information_content": 100.0}
{"id": "HP:0010882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary valve atresia", "equivalent_identifiers": ["HP:0010882", "NCIT:C99031", "UMLS:C0242855", "MEDDRA:10003653", "MEDDRA:10052644", "SNOMEDCT:204342004", "SNOMEDCT:448564004", "MESH:D018633"], "information_content": 92.8}
{"id": "HP:0010955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilatation of the bladder", "equivalent_identifiers": ["HP:0010955", "UMLS:C0549253", "MEDDRA:10005033", "MEDDRA:10072363"], "information_content": 92.8}
{"id": "MONDO:0007636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontorhiny", "equivalent_identifiers": ["MONDO:0007636", "DOID:0081045", "OMIM:136760", "orphanet:391474", "UMLS:C5574965", "NCIT:C129028", "SNOMEDCT:1230021007", "medgen:1803615"], "information_content": 100.0}
{"id": "MONDO:0018953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parietal foramina", "equivalent_identifiers": ["MONDO:0018953", "DOID:0060285", "OMIM.PS:168500", "orphanet:60015", "UMLS:C1868598", "MESH:C566826", "SNOMEDCT:718099006", "icd11.foundation:905361904", "HP:0004423"], "information_content": 90.9}
{"id": "HP:0005258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pectoral muscle hypoplasia/aplasia", "equivalent_identifiers": ["HP:0005258", "UMLS:C4025226"], "information_content": 90.9}
{"id": "HP:0007541", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal cutaneous lipoma", "equivalent_identifiers": ["HP:0007541", "UMLS:C1850970"], "information_content": 100.0}
{"id": "HP:0006992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior basal encephalocele", "equivalent_identifiers": ["HP:0006992", "UMLS:C1850961"], "information_content": 100.0}
{"id": "HP:0001566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely-spaced maxillary central incisors", "equivalent_identifiers": ["HP:0001566", "UMLS:C1835762", "UMLS:C1845110", "UMLS:C4280252"], "information_content": 100.0}
{"id": "MONDO:0003845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corpus callosum lipoma", "equivalent_identifiers": ["MONDO:0003845", "DOID:6294", "UMLS:C1333160", "MEDDRA:10090789", "NCIT:C5438", "medgen:272510", "HP:0006931"], "information_content": 92.8}
{"id": "MONDO:0014526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyglucosan body myopathy type 2", "equivalent_identifiers": ["MONDO:0014526", "OMIM:616199", "orphanet:456369", "UMLS:C4015452", "SNOMEDCT:1228849007", "medgen:863889"], "information_content": 100.0}
{"id": "HP:0008946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelvic girdle amyotrophy", "equivalent_identifiers": ["HP:0008946", "UMLS:C4021528"], "information_content": 100.0}
{"id": "HP:0034766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber polyglucosan inclusion bodies", "equivalent_identifiers": ["HP:0034766", "UMLS:C5826649"], "information_content": 100.0}
{"id": "MONDO:0014208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2R", "equivalent_identifiers": ["MONDO:0014208", "DOID:0110161", "OMIM:615490", "orphanet:397968", "UMLS:C3809655", "SNOMEDCT:774147002", "medgen:815985"], "information_content": 100.0}
{"id": "MONDO:0100101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal akinesia deformation sequence 1", "equivalent_identifiers": ["MONDO:0100101", "DOID:0111377", "OMIM:208150", "orphanet:994", "medgen:220903"], "information_content": 100.0}
{"id": "HP:0006266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small placenta", "equivalent_identifiers": ["HP:0006266", "UMLS:C0566694", "SNOMEDCT:289264006"], "information_content": 92.8}
{"id": "MONDO:0009433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplastic left heart syndrome 1", "equivalent_identifiers": ["MONDO:0009433", "OMIM:241550", "UMLS:C4551854", "medgen:1646779"], "information_content": 100.0}
{"id": "MONDO:0009373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures-intellectual disability due to hydroxylysinuria syndrome", "equivalent_identifiers": ["MONDO:0009373", "OMIM:236900", "orphanet:79156", "UMLS:C1855986", "MESH:C565502", "medgen:343450", "HP:0032414"], "information_content": 100.0}
{"id": "MONDO:0009866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phosphoenolpyruvate carboxykinase deficiency, cytosolic", "equivalent_identifiers": ["MONDO:0009866", "OMIM:261680", "UMLS:C5574905", "medgen:1801754"], "information_content": 100.0}
{"id": "HP:6000619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000619", "UMLS:C5937374"], "information_content": 100.0}
{"id": "HP:0000799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal steatosis", "equivalent_identifiers": ["HP:0000799", "UMLS:C4021796"], "information_content": 100.0}
{"id": "MONDO:0010352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 82", "equivalent_identifiers": ["MONDO:0010352", "DOID:0112052", "OMIM:300518", "UMLS:C1845286", "MESH:C564496", "medgen:337201"], "information_content": 100.0}
{"id": "MONDO:0014788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2W", "equivalent_identifiers": ["MONDO:0014788", "DOID:0110288", "OMIM:616827", "UMLS:C4225192", "SNOMEDCT:1179297007", "medgen:897675"], "information_content": 100.0}
{"id": "HP:0030284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular tongue", "equivalent_identifiers": ["HP:0030284", "UMLS:C4022537"], "information_content": 100.0}
{"id": "MONDO:0010813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic beta cell agenesis with neonatal diabetes mellitus", "equivalent_identifiers": ["MONDO:0010813", "OMIM:600089", "UMLS:C1838655", "MESH:C538111", "medgen:325072"], "information_content": 100.0}
{"id": "MONDO:0012363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 32", "equivalent_identifiers": ["MONDO:0012363", "DOID:0110355", "OMIM:609913", "UMLS:C1835927", "MESH:C563689", "medgen:322781"], "information_content": 100.0}
{"id": "HP:0030609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Photoreceptor layer loss on macular OCT", "equivalent_identifiers": ["HP:0030609", "UMLS:C4073079"], "information_content": 100.0}
{"id": "MONDO:0957255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 7", "equivalent_identifiers": ["MONDO:0957255", "DOID:0070464", "OMIM:620359", "UMLS:C5830482", "medgen:1841118"], "information_content": 100.0}
{"id": "HP:0032867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Refractory status epilepticus", "equivalent_identifiers": ["HP:0032867", "UMLS:C5397872"], "information_content": 95.4}
{"id": "MONDO:0014792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paget disease of bone 6", "equivalent_identifiers": ["MONDO:0014792", "DOID:0081369", "OMIM:616833", "UMLS:C4085250", "medgen:908743"], "information_content": 100.0}
{"id": "OMIM:613793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blood group, cromer system", "equivalent_identifiers": ["OMIM:613793"]}
{"id": "MONDO:0011766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome", "equivalent_identifiers": ["MONDO:0011766", "DOID:0051055", "OMIM:607080", "orphanet:168563", "UMLS:C2751325", "UMLS:C5436061", "MESH:C567773", "medgen:1727162"], "information_content": 100.0}
{"id": "MONDO:0008251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial pityriasis rubra pilaris", "equivalent_identifiers": ["MONDO:0008251", "OMIM:173200", "orphanet:2897", "UMLS:C2930842", "MESH:C531784", "medgen:443914"], "information_content": 100.0}
{"id": "HP:0025474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythematous plaque", "equivalent_identifiers": ["HP:0025474", "UMLS:C0332477", "UMLS:C4476801", "SNOMEDCT:72768000"], "information_content": 100.0}
{"id": "MONDO:0957309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 90B, autosomal recessive", "equivalent_identifiers": ["MONDO:0957309", "DOID:0070460", "OMIM:620417", "UMLS:C5830578", "medgen:1841214"], "information_content": 100.0}
{"id": "MONDO:0032591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperparathyroidism, transient neonatal", "equivalent_identifiers": ["MONDO:0032591", "OMIM:618188", "UMLS:C1300287", "NCIT:C131032", "SNOMEDCT:389201004", "medgen:722059"], "information_content": 100.0}
{"id": "HP:0041159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fractured rib", "equivalent_identifiers": ["HP:0041159", "EFO:0009620", "NCIT:C34990", "UMLS:C0035522", "MEDDRA:10017274", "MEDDRA:10017307", "MEDDRA:10039117", "SNOMEDCT:33737001", "MESH:D012253"], "information_content": 90.9}
{"id": "HP:0010561", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undulate ribs", "equivalent_identifiers": ["HP:0010561", "UMLS:C1969185"], "information_content": 100.0}
{"id": "MONDO:0012734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SERKAL syndrome", "equivalent_identifiers": ["MONDO:0012734", "OMIM:611812", "orphanet:139466", "UMLS:C2678492", "MESH:C567517", "NCIT:C123726", "SNOMEDCT:723720008", "medgen:394528"], "information_content": 100.0}
{"id": "HP:0005944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral lung agenesis", "equivalent_identifiers": ["HP:0005944", "UMLS:C4021610", "SNOMEDCT:838370001"], "information_content": 100.0}
{"id": "MONDO:0010653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renpenning syndrome", "equivalent_identifiers": ["MONDO:0010653", "DOID:0060179", "OMIM:309500", "orphanet:3242", "UMLS:C0796135", "MESH:C537761", "NCIT:C165533", "SNOMEDCT:699669001", "medgen:208670", "icd11.foundation:1415315699", "ICD10:Q87.5"], "information_content": 89.4}
{"id": "MONDO:0008491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stiff-person syndrome", "equivalent_identifiers": ["MONDO:0008491", "DOID:13366", "OMIM:184850", "orphanet:3198", "EFO:0007498", "UMLS:C0085292", "MESH:D016750", "MEDDRA:10042044", "MEDDRA:10072148", "MEDDRA:10080172", "NCIT:C85170", "SNOMEDCT:5217008", "medgen:39017", "ICD10:G25.82", "ICD9:333.91"], "information_content": 90.9}
{"id": "HP:0007066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal limb muscle stiffness", "equivalent_identifiers": ["HP:0007066", "UMLS:C1861460"], "information_content": 100.0}
{"id": "MONDO:0003709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agoraphobia", "equivalent_identifiers": ["MONDO:0003709", "DOID:593", "EFO:1001872", "UMLS:C0001818", "MESH:D000379", "MEDDRA:10001502", "MEDDRA:10016279", "NCIT:C34362", "SNOMEDCT:247830007", "SNOMEDCT:70691001", "medgen:175", "icd11.foundation:530592394", "ICD10:F40.0", "HP:0000756"], "information_content": 95.4}
{"id": "HP:0007156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetric limb muscle stiffness", "equivalent_identifiers": ["HP:0007156", "UMLS:C4024931"], "information_content": 100.0}
{"id": "HP:0006921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axial muscle stiffness", "equivalent_identifiers": ["HP:0006921", "UMLS:C4024962"], "information_content": 100.0}
{"id": "MONDO:0957267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity", "equivalent_identifiers": ["MONDO:0957267", "OMIM:620371", "UMLS:C5830509", "medgen:1841145"], "information_content": 100.0}
{"id": "HP:0035006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic sinusoidal dilatation", "equivalent_identifiers": ["HP:0035006", "UMLS:C5826830"], "information_content": 100.0}
{"id": "HP:0012447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal myelination", "equivalent_identifiers": ["HP:0012447", "UMLS:C1857704"], "information_content": 64.4}
{"id": "HP:0030283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of the septum pellucidum", "equivalent_identifiers": ["HP:0030283", "UMLS:C1827299", "SNOMEDCT:422474003"], "information_content": 100.0}
{"id": "HP:0007052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multifocal cerebral white matter abnormalities", "equivalent_identifiers": ["HP:0007052", "UMLS:C1833434"], "information_content": 92.8}
{"id": "MONDO:0008328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 1, open angle, P", "equivalent_identifiers": ["MONDO:0008328", "OMIM:177700", "UMLS:C3888338", "MESH:C566748", "medgen:854866"], "information_content": 100.0}
{"id": "HP:0007854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glaucomatous visual field defect", "equivalent_identifiers": ["HP:0007854", "UMLS:C1299694", "SNOMEDCT:370961005"], "information_content": 100.0}
{"id": "MONDO:0013511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cyanosis, transient neonatal", "equivalent_identifiers": ["MONDO:0013511", "OMIM:613977", "UMLS:C3151421", "medgen:462771"], "information_content": 95.4}
{"id": "MONDO:0008847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrichia with papular lesions", "equivalent_identifiers": ["MONDO:0008847", "DOID:0060689", "OMIM:209500", "orphanet:86819", "UMLS:C1859592", "MESH:C565924", "SNOMEDCT:715963002", "medgen:395299", "ICD10:L65.8"], "information_content": 100.0}
{"id": "HP:0007482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized papillary lesions", "equivalent_identifiers": ["HP:0007482", "UMLS:C4024865"], "information_content": 100.0}
{"id": "MONDO:0009484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 1", "equivalent_identifiers": ["MONDO:0009484", "DOID:0110594", "OMIM:244400", "UMLS:C4551906", "NCIT:C128117", "medgen:1646059", "ICD10:Q34.8"], "information_content": 100.0}
{"id": "MONDO:0032936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, congenital, with respiratory insufficiency and bone fractures", "equivalent_identifiers": ["MONDO:0032936", "DOID:0081343", "OMIM:618822", "UMLS:C5394189", "medgen:1718097"], "information_content": 100.0}
{"id": "MONDO:0957261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7", "equivalent_identifiers": ["MONDO:0957261", "OMIM:620365", "UMLS:C5830485", "medgen:1841121"], "information_content": 100.0}
{"id": "MONDO:0014194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 6", "equivalent_identifiers": ["MONDO:0014194", "DOID:0080115", "OMIM:615453", "UMLS:C3809553", "medgen:815883"], "information_content": 100.0}
{"id": "HP:0005979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metabolic ketoacidosis", "equivalent_identifiers": ["HP:0005979", "UMLS:C0268040", "UMLS:C1854704", "MEDDRA:10082528", "SNOMEDCT:55178001"], "information_content": 100.0}
{"id": "MONDO:0031010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontochondrodysplasia 2 with hearing loss and diabetes", "equivalent_identifiers": ["MONDO:0031010", "OMIM:619269", "UMLS:C5543275", "medgen:1782909"], "information_content": 100.0}
{"id": "HP:0030866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large knee", "equivalent_identifiers": ["HP:0030866", "UMLS:C4280736"], "information_content": 100.0}
{"id": "MONDO:0032581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 18", "equivalent_identifiers": ["MONDO:0032581", "DOID:0080393", "OMIM:618177", "UMLS:C4748549", "medgen:1648464"], "information_content": 100.0}
{"id": "MONDO:0014986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group R", "equivalent_identifiers": ["MONDO:0014986", "DOID:0111090", "OMIM:617244", "UMLS:C4284093", "medgen:924579"], "information_content": 100.0}
{"id": "MONDO:0011901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2H", "equivalent_identifiers": ["MONDO:0011901", "DOID:0110166", "OMIM:607731", "orphanet:101102", "UMLS:C1843173", "MESH:C535415", "SNOMEDCT:720637005", "medgen:334344"], "information_content": 100.0}
{"id": "MONDO:0013401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 51", "equivalent_identifiers": ["MONDO:0013401", "DOID:0110803", "OMIM:613744", "UMLS:C3151056", "medgen:462406"], "information_content": 100.0}
{"id": "MONDO:0009270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "genito-palato-cardiac syndrome", "equivalent_identifiers": ["MONDO:0009270", "OMIM:231060", "orphanet:2075", "UMLS:C1856466", "MESH:C537683", "SNOMEDCT:773749003", "medgen:341558", "icd11.foundation:2011995320"], "information_content": 100.0}
{"id": "MONDO:0010765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Swyer Syndrome", "equivalent_identifiers": ["MONDO:0010765", "DOID:14448", "OMIM.PS:400044", "orphanet:242", "UMLS:C0018054", "UMLS:C2936694", "MESH:D006061", "MEDDRA:10084327", "NCIT:C120198", "SNOMEDCT:95218005", "medgen:445380", "HP:0008668"], "information_content": 83.1}
{"id": "OMIM:613988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyskeratosis Congenita, Autosomal Recessive 3", "equivalent_identifiers": ["OMIM:613988", "UMLS:C3151442", "NCIT:C176927"], "information_content": 100.0}
{"id": "MONDO:0000500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tongue squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0000500", "DOID:0050865", "EFO:1000055", "UMLS:C0349566", "MEDDRA:10041865", "NCIT:C4648", "SNOMEDCT:276952000", "medgen:91153", "HP:0030413"], "information_content": 84.8}
{"id": "MONDO:0013402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 27", "equivalent_identifiers": ["MONDO:0013402", "DOID:0110397", "OMIM:613750", "UMLS:C1834329", "UMLS:C1834330", "MESH:C563526", "MESH:C563527", "medgen:320323"], "information_content": 100.0}
{"id": "MONDO:0011334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limb-mammary syndrome", "equivalent_identifiers": ["MONDO:0011334", "OMIM:603543", "orphanet:69085", "UMLS:C1863753", "MESH:C535903", "SNOMEDCT:721972001", "medgen:355051", "icd11.foundation:1958986288"], "information_content": 100.0}
{"id": "OMIM:194470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ZINC, ELEVATED PLASMA", "equivalent_identifiers": ["OMIM:194470", "UMLS:C1860228"]}
{"id": "MONDO:0008426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shprintzen-Goldberg syndrome", "equivalent_identifiers": ["MONDO:0008426", "OMIM:182212", "orphanet:2462", "UMLS:C1321551", "MESH:C537328", "MEDDRA:10082234", "NCIT:C124840", "SNOMEDCT:719069008", "medgen:231160"], "information_content": 100.0}
{"id": "HP:0008440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C1-C2 vertebral abnormality", "equivalent_identifiers": ["HP:0008440", "UMLS:C4024675"], "information_content": 95.4}
{"id": "HP:0003717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Minimal subcutaneous fat", "equivalent_identifiers": ["HP:0003717", "UMLS:C1859442"], "information_content": 95.4}
{"id": "MONDO:0012629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal nonkinesigenic dyskinesia 2", "equivalent_identifiers": ["MONDO:0012629", "DOID:0090047", "OMIM:611147", "UMLS:C1970149", "MESH:C567001", "medgen:370188"], "information_content": 100.0}
{"id": "MONDO:0007792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypocalciuric hypercalcemia 2", "equivalent_identifiers": ["MONDO:0007792", "DOID:0060701", "OMIM:145981", "orphanet:101049", "UMLS:C1840347", "MESH:C537146", "medgen:374447"], "information_content": 100.0}
{"id": "MONDO:0004247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peptic Ulcer", "equivalent_identifiers": ["MONDO:0004247", "DOID:750", "UMLS:C0030920", "MESH:D010437", "MEDDRA:10017886", "MEDDRA:10018053", "MEDDRA:10034341", "MEDDRA:10034343", "MEDDRA:10034360", "MEDDRA:10034367", "MEDDRA:10034369", "MEDDRA:10037287", "MEDDRA:10042834", "MEDDRA:10045305", "MEDDRA:10045328", "MEDDRA:10045342", "NCIT:C3318", "SNOMEDCT:13200003", "medgen:45384", "ICD10:K27", "ICD9:533", "HP:0004398"], "information_content": 84.8}
{"id": "HP:0003529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parathormone-independent increased renal tubular calcium reabsorption", "equivalent_identifiers": ["HP:0003529", "UMLS:C4025604"], "information_content": 100.0}
{"id": "MONDO:0014514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 9", "equivalent_identifiers": ["MONDO:0014514", "OMIM:616166", "UMLS:C4015368", "medgen:863805"], "information_content": 100.0}
{"id": "MONDO:0031002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Baralle-Macken syndrome", "equivalent_identifiers": ["MONDO:0031002", "OMIM:619255", "UMLS:C5543241", "SNOMEDCT:1351838008", "medgen:1778777"], "information_content": 100.0}
{"id": "MONDO:0008409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "equivalent_identifiers": ["MONDO:0008409", "DOID:0111269", "OMIM:608358", "orphanet:636965", "UMLS:C1842160", "UMLS:C4759774", "MESH:C564253", "SNOMEDCT:129620000", "SNOMEDCT:699267007", "medgen:374868"], "information_content": 100.0}
{"id": "HP:0003704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scapuloperoneal weakness", "equivalent_identifiers": ["HP:0003704", "UMLS:C1842161"], "information_content": 100.0}
{"id": "MONDO:0010769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hairy ears, Y-linked", "equivalent_identifiers": ["MONDO:0010769", "OMIM:425500", "UMLS:C1839070", "MESH:C564029", "medgen:374123"], "information_content": 100.0}
{"id": "MONDO:0012858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CD59 Deficiency", "equivalent_identifiers": ["MONDO:0012858", "OMIM:612300", "orphanet:169464", "UMLS:C2676767", "MESH:C567355", "medgen:393582"], "information_content": 100.0}
{"id": "MONDO:0100244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal nocturnal hemoglobinuria", "equivalent_identifiers": ["MONDO:0100244", "DOID:0060284", "OMIM.PS:300818", "orphanet:447", "UMLS:C0019050", "UMLS:C0024790", "MESH:D006457", "MEDDRA:10034042", "MEDDRA:10055629", "NCIT:C61233", "SNOMEDCT:1963002", "medgen:7471", "icd11.foundation:859588467", "ICD10:D59.5", "ICD10:D59.6", "HP:0004818"], "information_content": 92.8}
{"id": "MONDO:0008624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upington disease", "equivalent_identifiers": ["MONDO:0008624", "OMIM:191520", "orphanet:3408", "UMLS:C1860596", "MESH:C536472", "SNOMEDCT:719041000", "medgen:348145", "icd11.foundation:1846351406"], "information_content": 100.0}
{"id": "HP:0003365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip joint pain", "equivalent_identifiers": ["HP:0003365", "UMLS:C0019559", "SNOMEDCT:1348356003"], "information_content": 100.0}
{"id": "MONDO:0008145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ollier disease", "equivalent_identifiers": ["MONDO:0008145", "DOID:4624", "OMIM:166000", "OMIM:614569", "orphanet:296", "UMLS:C0013366", "UMLS:C0014084", "UMLS:C0024454", "MESH:D004687", "MEDDRA:10013891", "MEDDRA:10014642", "MEDDRA:10078027", "MEDDRA:10083007", "NCIT:C3008", "NCIT:C3213", "SNOMEDCT:268274005", "SNOMEDCT:46041001", "medgen:41775", "HP:0005701"], "information_content": 92.8}
{"id": "MONDO:0013525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 16", "equivalent_identifiers": ["MONDO:0013525", "DOID:0110613", "OMIM:614017", "UMLS:C3151460", "medgen:462810"], "information_content": 100.0}
{"id": "HP:0012262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ciliary motility", "equivalent_identifiers": ["HP:0012262", "UMLS:C4022983"], "information_content": 92.8}
{"id": "MONDO:0010533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arts syndrome", "equivalent_identifiers": ["MONDO:0010533", "DOID:0050647", "OMIM:301835", "orphanet:1187", "UMLS:C0796028", "MESH:C535388", "SNOMEDCT:702441001", "medgen:163205"], "information_content": 95.4}
{"id": "HP:0008311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal cord posterior columns myelin loss", "equivalent_identifiers": ["HP:0008311", "UMLS:C4024706"], "information_content": 100.0}
{"id": "MONDO:0012460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 67", "equivalent_identifiers": ["MONDO:0012460", "DOID:0110518", "OMIM:610265", "UMLS:C1853223", "MESH:C565207", "medgen:343997"], "information_content": 100.0}
{"id": "MONDO:0011669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia-cystinuria syndrome", "equivalent_identifiers": ["MONDO:0011669", "DOID:0060858", "OMIM:606407", "orphanet:163690", "orphanet:238517", "UMLS:C1848030", "MESH:C564710", "MEDDRA:10083099", "SNOMEDCT:721173005", "medgen:341133", "icd11.foundation:1742079513", "icd11.foundation:1852649756", "ICD10:E72.0"], "information_content": 95.4}
{"id": "MONDO:0009067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystinuria", "equivalent_identifiers": ["MONDO:0009067", "DOID:9266", "OMIM:220100", "orphanet:214", "UMLS:C0010691", "UMLS:C1857390", "UMLS:C5936710", "MESH:D003555", "MEDDRA:10011778", "NCIT:C84664", "SNOMEDCT:85020001", "medgen:8226", "icd11.foundation:1237620397", "ICD10:E72.01", "HP:0003131"], "information_content": 87.2}
{"id": "HP:0033067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystine crystalluria", "equivalent_identifiers": ["HP:0033067", "UMLS:C5421584"], "information_content": 100.0}
{"id": "MONDO:0012335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to pro-opiomelanocortin deficiency", "equivalent_identifiers": ["MONDO:0012335", "OMIM:609734", "orphanet:71526", "UMLS:C1857854", "MESH:C565726", "MEDDRA:10083937", "NCIT:C120393", "SNOMEDCT:702949005", "medgen:341863", "icd11.foundation:530374033"], "information_content": 100.0}
{"id": "MONDO:0008720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital isolated adrenocorticotropic hormone deficiency", "equivalent_identifiers": ["MONDO:0008720", "DOID:0080150", "OMIM:201400", "orphanet:199296", "EFO:1001979", "UMLS:C0271583", "UMLS:C0342388", "MESH:C535668", "MESH:C562707", "MEDDRA:10057213", "MEDDRA:10057217", "MEDDRA:10073179", "MEDDRA:10073203", "MEDDRA:10078569", "NCIT:C120433", "SNOMEDCT:237692001", "SNOMEDCT:80599001", "medgen:137968", "HP:0011748"], "information_content": 92.8}
{"id": "MONDO:0010133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 2A", "equivalent_identifiers": ["MONDO:0010133", "DOID:0112186", "OMIM:274500", "UMLS:C1291299", "MESH:C563206", "NCIT:C121750", "SNOMEDCT:124204003", "medgen:226940"], "information_content": 100.0}
{"id": "HP:0008263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyroid defect in oxidation and organification of iodide", "equivalent_identifiers": ["HP:0008263", "UMLS:C1848800"], "information_content": 100.0}
{"id": "MONDO:0030438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 16", "equivalent_identifiers": ["MONDO:0030438", "DOID:0112333", "OMIM:619527", "UMLS:C5561987", "medgen:1794197"], "information_content": 100.0}
{"id": "MONDO:0014517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus, type 9", "equivalent_identifiers": ["MONDO:0014517", "DOID:0111301", "OMIM:616172", "UMLS:C4015395", "NCIT:C192201", "medgen:863832"], "information_content": 100.0}
{"id": "MONDO:0012185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, A4 type", "equivalent_identifiers": ["MONDO:0012185", "DOID:0112301", "OMIM:609052", "orphanet:168555", "UMLS:C1836862", "MESH:C563803", "SNOMEDCT:782912001", "medgen:324620", "icd11.foundation:696316924"], "information_content": 100.0}
{"id": "HP:0004699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoporotic metatarsal", "equivalent_identifiers": ["HP:0004699", "UMLS:C1836873"], "information_content": 100.0}
{"id": "HP:0003918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic humeral metaphysis", "equivalent_identifiers": ["HP:0003918", "UMLS:C4025509"], "information_content": 92.8}
{"id": "HP:0008076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoporotic tarsals", "equivalent_identifiers": ["HP:0008076", "UMLS:C1836872"], "information_content": 100.0}
{"id": "HP:0006369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular patellae", "equivalent_identifiers": ["HP:0006369", "UMLS:C1836870"], "information_content": 100.0}
{"id": "HP:0006623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Costochondral joint sclerosis", "equivalent_identifiers": ["HP:0006623", "UMLS:C4021588"], "information_content": 100.0}
{"id": "MONDO:0013018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis follicularis spinulosa decalvans, autosomal dominant", "equivalent_identifiers": ["MONDO:0013018", "DOID:0080755", "OMIM:612843", "UMLS:C2748527", "MESH:C567553", "medgen:412573"], "information_content": 100.0}
{"id": "HP:0030054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perifollicular fibrosis", "equivalent_identifiers": ["HP:0030054", "UMLS:C2748531"], "information_content": 100.0}
{"id": "MONDO:0010734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spatial visualization, aptitude for", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010734", "OMIM:313000", "UMLS:C1839262", "UMLS:C1839263", "MESH:C564058", "medgen:326850"], "information_content": 100.0}
{"id": "MONDO:0957978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 16", "equivalent_identifiers": ["MONDO:0957978", "OMIM:620629", "UMLS:C5882723", "medgen:1851641"], "information_content": 100.0}
{"id": "MONDO:0019154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "androgen insensitivity syndrome", "equivalent_identifiers": ["MONDO:0019154", "DOID:4674", "OMIM:300068", "orphanet:754", "UMLS:C0039585", "MESH:D013734", "MEDDRA:10056292", "NCIT:C27226", "SNOMEDCT:12313004", "medgen:21102", "ICD10:E34.5", "ICD9:259.51"], "information_content": 89.4}
{"id": "HP:0002550", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent facial hair", "equivalent_identifiers": ["HP:0002550", "UMLS:C1848192"], "information_content": 88.2}
{"id": "MONDO:0014909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 34", "equivalent_identifiers": ["MONDO:0014909", "DOID:0110610", "OMIM:617091", "UMLS:C4310722", "medgen:934689"], "information_content": 100.0}
{"id": "HP:0012264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent central microtubular pair morphology of respiratory motile cilia", "equivalent_identifiers": ["HP:0012264", "UMLS:C4022982"], "information_content": 100.0}
{"id": "MONDO:0014305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 63", "equivalent_identifiers": ["MONDO:0014305", "DOID:0110814", "OMIM:615686", "orphanet:401805", "UMLS:C3810295", "SNOMEDCT:726610000", "medgen:816625"], "information_content": 100.0}
{"id": "HP:0030212", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Collectionism", "equivalent_identifiers": ["HP:0030212", "UMLS:C0424290", "MEDDRA:10068007", "SNOMEDCT:247968005"], "information_content": 100.0}
{"id": "MONDO:0859254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatorenocardiac degenerative fibrosis", "equivalent_identifiers": ["MONDO:0859254", "OMIM:619902", "UMLS:C5676996", "medgen:1808950"], "information_content": 100.0}
{"id": "HP:0032622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tubular luminal dilatation", "equivalent_identifiers": ["HP:0032622", "UMLS:C5397640"], "information_content": 90.9}
{"id": "MONDO:0009231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 2B", "equivalent_identifiers": ["MONDO:0009231", "DOID:0050790", "OMIM:228900", "orphanet:2639", "UMLS:C1856738", "MESH:C537931", "SNOMEDCT:715474004", "medgen:346432", "KEGG.DISEASE:H00467"], "information_content": 100.0}
{"id": "HP:0004097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of finger", "equivalent_identifiers": ["HP:0004097", "UMLS:C0410740", "UMLS:C4759671", "MEDDRA:10016682", "MEDDRA:10045731", "MEDDRA:10061156", "SNOMEDCT:203556007", "SNOMEDCT:26517000"], "information_content": 78.0}
{"id": "HP:0010624", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplastic/hypoplastic toenail", "equivalent_identifiers": ["HP:0010624", "UMLS:C1856749"], "information_content": 88.2}
{"id": "HP:0006092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malaligned carpal bone", "equivalent_identifiers": ["HP:0006092", "UMLS:C1856742"], "information_content": 100.0}
{"id": "HP:0008119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed tarsal bones", "equivalent_identifiers": ["HP:0008119", "UMLS:C1856746"], "information_content": 95.4}
{"id": "MONDO:0859339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, 10", "equivalent_identifiers": ["MONDO:0859339", "OMIM:620173", "UMLS:C5774277", "medgen:1824050"], "information_content": 100.0}
{"id": "MONDO:0009940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pycnodysostosis", "equivalent_identifiers": ["MONDO:0009940", "DOID:0080038", "OMIM:265800", "orphanet:763", "UMLS:C0238402", "MESH:D058631", "MEDDRA:10082973", "NCIT:C131187", "SNOMEDCT:89647000", "medgen:116061", "icd11.foundation:1329974152"], "information_content": 100.0}
{"id": "HP:0004474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent open anterior fontanelle", "equivalent_identifiers": ["HP:0004474", "UMLS:C1849537"], "information_content": 100.0}
{"id": "MONDO:0033483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrocytosis, familial, 5", "equivalent_identifiers": ["MONDO:0033483", "DOID:0080290", "OMIM:617907", "UMLS:C4693552", "medgen:1638941"], "information_content": 100.0}
{"id": "MONDO:0033671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 45", "equivalent_identifiers": ["MONDO:0033671", "DOID:0112163", "OMIM:619094", "UMLS:C5436791", "medgen:1776221"], "information_content": 100.0}
{"id": "MONDO:0011146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetrasomy 12p", "equivalent_identifiers": ["MONDO:0011146", "OMIM:601803", "orphanet:884", "UMLS:C0265449", "UMLS:C2748628", "MESH:C538105", "MEDDRA:10080297", "NCIT:C75458", "SNOMEDCT:9527009", "medgen:120540"], "information_content": 100.0}
{"id": "HP:0005026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesomelic/rhizomelic limb shortening", "equivalent_identifiers": ["HP:0005026", "UMLS:C1866239"], "information_content": 100.0}
{"id": "HP:0007535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypopigmented streaks", "equivalent_identifiers": ["HP:0007535", "UMLS:C1866244"], "information_content": 95.4}
{"id": "HP:0012673", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the upper vagina", "equivalent_identifiers": ["HP:0012673", "UMLS:C4022788", "SNOMEDCT:1144872007"], "information_content": 100.0}
{"id": "HP:0004768", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse anterior scalp hair", "equivalent_identifiers": ["HP:0004768", "UMLS:C1866246"], "information_content": 100.0}
{"id": "HP:0007572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpigmented streaks", "equivalent_identifiers": ["HP:0007572", "UMLS:C1866245"], "information_content": 100.0}
{"id": "MONDO:0008139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "OSLAM syndrome", "equivalent_identifiers": ["MONDO:0008139", "OMIM:165660", "orphanet:2760", "UMLS:C1833792", "MESH:C537138", "SNOMEDCT:733064004", "medgen:331588"], "information_content": 100.0}
{"id": "MONDO:0014374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 18", "equivalent_identifiers": ["MONDO:0014374", "DOID:0111125", "OMIM:615862", "UMLS:C3890591", "medgen:855697"], "information_content": 100.0}
{"id": "MONDO:0007429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy", "equivalent_identifiers": ["MONDO:0007429", "OMIM:125250", "UMLS:C3276549", "medgen:478179"], "information_content": 100.0}
{"id": "MONDO:0033664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kilquist syndrome", "equivalent_identifiers": ["MONDO:0033664", "OMIM:619080", "UMLS:C5436756", "medgen:1742639"], "information_content": 100.0}
{"id": "HP:0500239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF albumin concentration", "equivalent_identifiers": ["HP:0500239", "UMLS:C5139624"], "information_content": 100.0}
{"id": "MONDO:0009143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 1", "equivalent_identifiers": ["MONDO:0009143", "DOID:0080512", "OMIM:224690", "UMLS:C4552001", "SNOMEDCT:703508009", "medgen:1641240"], "information_content": 100.0}
{"id": "HP:0006628", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent sternal ossification", "equivalent_identifiers": ["HP:0006628", "UMLS:C1857074", "UMLS:C4280443"], "information_content": 100.0}
{"id": "HP:0006591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent glenoid fossa", "equivalent_identifiers": ["HP:0006591", "UMLS:C4021589"], "information_content": 100.0}
{"id": "HP:0000911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat glenoid fossa", "equivalent_identifiers": ["HP:0000911", "UMLS:C1855177"], "information_content": 100.0}
{"id": "HP:0000376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mondini defect", "equivalent_identifiers": ["HP:0000376", "UMLS:C0395941", "UMLS:C1857078", "UMLS:C4025857", "SNOMEDCT:232302007"], "information_content": 100.0}
{"id": "MONDO:0957953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Garg-Mishra progeroid syndrome", "equivalent_identifiers": ["MONDO:0957953", "OMIM:620601", "UMLS:C5882717", "medgen:1847272"], "information_content": 100.0}
{"id": "MONDO:0859337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 57", "equivalent_identifiers": ["MONDO:0859337", "DOID:0070430", "OMIM:620167", "UMLS:C5774275", "medgen:1824048"], "information_content": 100.0}
{"id": "HP:0025676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal pleural effusion", "equivalent_identifiers": ["HP:0025676", "UMLS:C3532164", "SNOMEDCT:462163003"], "information_content": 92.8}
{"id": "MONDO:0060664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", "equivalent_identifiers": ["MONDO:0060664", "DOID:0081263", "OMIM:617913", "UMLS:C4693567", "medgen:1634867"], "information_content": 100.0}
{"id": "MONDO:0008599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigeminal neuralgia", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008599", "DOID:12098", "OMIM:190400", "orphanet:221091", "EFO:1001219", "UMLS:C0040997", "MESH:D014277", "MEDDRA:10029227", "MEDDRA:10043837", "MEDDRA:10044652", "SNOMEDCT:31681005", "medgen:21683", "icd11.foundation:1803581281", "ICD10:G50.0", "ICD9:350.1", "HP:0100661"], "information_content": 100.0}
{"id": "MONDO:0013645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 11", "equivalent_identifiers": ["MONDO:0013645", "DOID:0080063", "OMIM:614229", "orphanet:284271", "UMLS:C5190803", "SNOMEDCT:783060009", "medgen:1681191"], "information_content": 100.0}
{"id": "MONDO:0013301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aromatase deficiency", "equivalent_identifiers": ["MONDO:0013301", "OMIM:613546", "orphanet:91", "UMLS:C1960539", "UMLS:C3891159", "MESH:C537436", "NCIT:C120144", "SNOMEDCT:427627006", "medgen:743307", "icd11.foundation:260189446"], "information_content": 100.0}
{"id": "MONDO:0017576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX disorder of sex development", "equivalent_identifiers": ["MONDO:0017576", "orphanet:2982", "UMLS:C0238394", "UMLS:C2936403", "MESH:D058489", "MEDDRA:10016409", "MEDDRA:10037123", "NCIT:C127169", "SNOMEDCT:8800006", "SNOMEDCT:890460004", "medgen:424728", "HP:0010458"], "information_content": 84.2}
{"id": "MONDO:0020739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercalcemia, infantile, 1", "equivalent_identifiers": ["MONDO:0020739", "OMIM:143880", "UMLS:C4310232", "MEDDRA:10090540", "MEDDRA:10090542", "medgen:934200"], "information_content": 100.0}
{"id": "MONDO:0007261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carabelli anomaly of maxillary molar teeth", "equivalent_identifiers": ["MONDO:0007261", "OMIM:114700", "UMLS:C1861897", "MESH:C566175", "medgen:396243"], "information_content": 100.0}
{"id": "HP:0011077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of molar", "equivalent_identifiers": ["HP:0011077", "UMLS:C4023547"], "information_content": 78.8}
{"id": "MONDO:0007811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis-cheek-eyebrow syndrome", "equivalent_identifiers": ["MONDO:0007811", "OMIM:146720", "UMLS:C1840283", "MESH:C536084", "SNOMEDCT:716097001", "medgen:326697"], "information_content": 100.0}
{"id": "MONDO:0008041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic epilepsy, Hartung type", "equivalent_identifiers": ["MONDO:0008041", "OMIM:159600", "UMLS:C1834581", "MESH:C563550", "medgen:371857"], "information_content": 100.0}
{"id": "MONDO:0012072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial partial lipodystrophy, Kobberling type", "equivalent_identifiers": ["MONDO:0012072", "DOID:0070207", "OMIM:608600", "orphanet:79084", "UMLS:C1720859", "SNOMEDCT:725035001", "medgen:318591"], "information_content": 100.0}
{"id": "HP:0009003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased subcutaneous truncal adipose tissue", "equivalent_identifiers": ["HP:0009003", "UMLS:C1837781"], "information_content": 100.0}
{"id": "MONDO:0014882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 77", "equivalent_identifiers": ["MONDO:0014882", "DOID:0110822", "OMIM:617046", "orphanet:466722", "UMLS:C5569007", "SNOMEDCT:1187506008", "medgen:1800430"], "information_content": 100.0}
{"id": "MONDO:0014292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with mild cerebellar ataxia and white matter edema", "equivalent_identifiers": ["MONDO:0014292", "OMIM:615651", "orphanet:363540", "UMLS:C4554120", "NCIT:C171603", "SNOMEDCT:768663003", "medgen:1638681"], "information_content": 100.0}
{"id": "MONDO:0014387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, progressive, with ovarian failure", "equivalent_identifiers": ["MONDO:0014387", "DOID:0070396", "OMIM:615889", "UMLS:C4014588", "medgen:863025"], "information_content": 100.0}
{"id": "MONDO:0014887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone marrow failure syndrome 3", "equivalent_identifiers": ["MONDO:0014887", "OMIM:617052", "UMLS:C4310744", "medgen:934711"], "information_content": 100.0}
{"id": "HP:0006276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperechogenic pancreas", "equivalent_identifiers": ["HP:0006276", "UMLS:C1857945", "MEDDRA:10084638"], "information_content": 100.0}
{"id": "HP:0033757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatty pancreas", "equivalent_identifiers": ["HP:0033757", "UMLS:C4087488", "MEDDRA:10072787", "MEDDRA:10077896", "SNOMEDCT:773200006"], "information_content": 100.0}
{"id": "HP:0100513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating vitamin E concentration", "equivalent_identifiers": ["HP:0100513", "UMLS:C0042875", "UMLS:C5779643", "MEDDRA:10047631", "SNOMEDCT:54137008", "MESH:D014811"], "information_content": 100.0}
{"id": "MONDO:0006065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lactose intolerance adult type", "equivalent_identifiers": ["MONDO:0006065", "OMIM:223100", "EFO:1000063", "UMLS:C0268181", "UMLS:C1857231", "MESH:C562601", "SNOMEDCT:38032004", "medgen:75659"], "information_content": 100.0}
{"id": "HP:0033589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flatulence", "equivalent_identifiers": ["HP:0033589", "EFO:0009669", "NCIT:C37954", "NCIT:C50569", "UMLS:C0016204", "UMLS:C0426623", "UMLS:C0949094", "MEDDRA:10000107", "MEDDRA:10015604", "MEDDRA:10016766", "MEDDRA:10016767", "MEDDRA:10016769", "MEDDRA:10016770", "MEDDRA:10017743", "MEDDRA:10047989", "SNOMEDCT:162076009", "SNOMEDCT:249504006", "SNOMEDCT:267052005", "SNOMEDCT:308698004", "SNOMEDCT:40015002", "MESH:D005414"], "information_content": 100.0}
{"id": "MONDO:0859224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability and myopathy syndrome", "equivalent_identifiers": ["MONDO:0859224", "DOID:0070600", "OMIM:619719", "UMLS:C5676904", "medgen:1808193"], "information_content": 100.0}
{"id": "HP:0025169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left ventricular systolic dysfunction", "equivalent_identifiers": ["HP:0025169", "NCIT:C64251", "UMLS:C1277187", "MEDDRA:10069501", "SNOMEDCT:134401001"], "information_content": 87.2}
{"id": "HP:0033204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triceps hyperreflexia", "equivalent_identifiers": ["HP:0033204", "UMLS:C5421681"], "information_content": 100.0}
{"id": "HP:0011081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incisor macrodontia", "equivalent_identifiers": ["HP:0011081", "UMLS:C4023544", "UMLS:C4280337"], "information_content": 89.4}
{"id": "MONDO:0010485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome", "equivalent_identifiers": ["MONDO:0010485", "DOID:0111811", "OMIM:300915", "orphanet:431140", "UMLS:C3806742", "medgen:813072"], "information_content": 100.0}
{"id": "MONDO:0859354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone metabolism, abnormal, 3", "equivalent_identifiers": ["MONDO:0859354", "OMIM:620198", "UMLS:C5774292", "medgen:1824065"], "information_content": 100.0}
{"id": "HP:0032209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating free T3 concentration", "equivalent_identifiers": ["HP:0032209", "UMLS:C5139194"], "information_content": 88.2}
{"id": "HP:0034288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating reverse T3 concentration", "equivalent_identifiers": ["HP:0034288", "UMLS:C5706144"], "information_content": 100.0}
{"id": "HP:0033192", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating selenium concentration", "equivalent_identifiers": ["HP:0033192", "UMLS:C5421674"], "information_content": 100.0}
{"id": "MONDO:0009210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor V deficiency", "equivalent_identifiers": ["MONDO:0009210", "DOID:2216", "OMIM:227400", "orphanet:326", "UMLS:C0015499", "NCIT:C98938", "SNOMEDCT:88776002", "medgen:4633"], "information_content": 100.0}
{"id": "MONDO:0009607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methionine adenosyltransferase deficiency", "equivalent_identifiers": ["MONDO:0009607", "OMIM:250850", "orphanet:168598", "EFO:0009069", "NCIT:C123435", "medgen:75700"], "information_content": 100.0}
{"id": "MONDO:0014623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 14, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014623", "DOID:0070279", "OMIM:616402", "UMLS:C4225338", "medgen:906798"], "information_content": 100.0}
{"id": "MONDO:0700275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostate cancer, hereditary", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0700275", "OMIM:176807", "orphanet:1331", "UMLS:C2931456", "MESH:C537243", "SNOMEDCT:715412008", "medgen:419810"], "information_content": 80.6}
{"id": "MONDO:0100519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 17", "equivalent_identifiers": ["MONDO:0100519", "OMIM:602477", "UMLS:C5561931", "UMLS:C5561932", "medgen:1794141"], "information_content": 100.0}
{"id": "MONDO:0021020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crigler-Najjar syndrome type 1", "equivalent_identifiers": ["MONDO:0021020", "OMIM:218800", "orphanet:79234", "UMLS:C0010324", "MEDDRA:10057034", "SNOMEDCT:8933000", "medgen:41346", "icd11.foundation:1098453659"], "information_content": 100.0}
{"id": "MONDO:0018477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kernicterus", "equivalent_identifiers": ["MONDO:0018477", "DOID:2382", "orphanet:415286", "EFO:1001002", "UMLS:C0022610", "MESH:D007647", "MEDDRA:10023140", "MEDDRA:10023376", "MEDDRA:10029814", "MEDDRA:10058102", "NCIT:C84799", "SNOMEDCT:50143004", "SNOMEDCT:74925009", "medgen:44018", "ICD10:P57", "HP:0001343"], "information_content": 95.4}
{"id": "MONDO:0009825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5-oxoprolinase deficiency", "equivalent_identifiers": ["MONDO:0009825", "OMIM:260005", "orphanet:33572", "UMLS:C0268525", "UMLS:C5886737", "MESH:C535322", "SNOMEDCT:26132002", "medgen:82814", "HP:0040142"], "information_content": 100.0}
{"id": "HP:0410132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of L-pyroglutamic acid in urine", "equivalent_identifiers": ["HP:0410132", "UMLS:C4703642"], "information_content": 100.0}
{"id": "MONDO:0032693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 8", "equivalent_identifiers": ["MONDO:0032693", "OMIM:618349", "UMLS:C5193045", "medgen:1675829"], "information_content": 100.0}
{"id": "MONDO:0033631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 51", "equivalent_identifiers": ["MONDO:0033631", "DOID:0112137", "OMIM:619057", "UMLS:C5436703", "medgen:1757992"], "information_content": 100.0}
{"id": "MONDO:0014606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "equivalent_identifiers": ["MONDO:0014606", "DOID:0070067", "OMIM:616364", "orphanet:468678", "EFO:0009079", "UMLS:C4225351", "SNOMEDCT:772127009", "medgen:897984"], "information_content": 100.0}
{"id": "HP:0000447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pear-shaped nose", "equivalent_identifiers": ["HP:0000447", "UMLS:C1853482"], "information_content": 100.0}
{"id": "MONDO:0700090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial temporal lobe, 1", "equivalent_identifiers": ["MONDO:0700090", "DOID:0060748", "OMIM:600512", "UMLS:C4551957", "NCIT:C141441", "medgen:1643229"], "information_content": 100.0}
{"id": "HP:0032759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal sensory seizure with vestibular features", "equivalent_identifiers": ["HP:0032759", "UMLS:C5397769"], "information_content": 92.8}
{"id": "HP:0011159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena", "equivalent_identifiers": ["HP:0011159", "UMLS:C4023506"], "information_content": 92.8}
{"id": "HP:0032773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole", "equivalent_identifiers": ["HP:0032773", "UMLS:C5397783"], "information_content": 92.8}
{"id": "HP:0011158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal sensory seizure with auditory features", "equivalent_identifiers": ["HP:0011158", "UMLS:C1838063", "SNOMEDCT:61927004"], "information_content": 92.8}
{"id": "HP:0032898", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal automatism seizure", "equivalent_identifiers": ["HP:0032898", "UMLS:C5397903", "SNOMEDCT:1264275009"], "information_content": 77.6}
{"id": "HP:0032810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal sensory seizure with cephalic sensation", "equivalent_identifiers": ["HP:0032810", "UMLS:C5397816"], "information_content": 92.8}
{"id": "HP:0011161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal sensory seizure with olfactory features", "equivalent_identifiers": ["HP:0011161", "UMLS:C0278191", "UMLS:C0422853", "UMLS:C4023504", "SNOMEDCT:87095001"], "information_content": 92.8}
{"id": "HP:0011165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal sensory seizure with visual features", "equivalent_identifiers": ["HP:0011165", "UMLS:C0278188", "UMLS:C1850765", "UMLS:C4317153", "MEDDRA:10087371", "SNOMEDCT:14521008"], "information_content": 92.8}
{"id": "MONDO:0008014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nondisjunction", "equivalent_identifiers": ["MONDO:0008014", "OMIM:158250", "UMLS:C1834741", "medgen:320427"], "information_content": 100.0}
{"id": "MONDO:0014611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 4", "equivalent_identifiers": ["MONDO:0014611", "DOID:0080136", "OMIM:616370", "orphanet:457406", "UMLS:C4225348", "SNOMEDCT:1208621008", "medgen:899010"], "information_content": 100.0}
{"id": "MONDO:0009814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopenia-intellectual disability-sparse hair syndrome", "equivalent_identifiers": ["MONDO:0009814", "OMIM:259690", "orphanet:2324", "UMLS:C1850140", "MESH:C537706", "SNOMEDCT:732954002", "medgen:337979"], "information_content": 100.0}
{"id": "MONDO:0013623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 11", "equivalent_identifiers": ["MONDO:0013623", "DOID:0111057", "OMIM:614201", "orphanet:98885", "UMLS:C3280120", "SNOMEDCT:765977002", "medgen:481750"], "information_content": 100.0}
{"id": "MONDO:0859225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without variable movement or behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859225", "OMIM:619725", "UMLS:C5676908", "medgen:1802087"], "information_content": 100.0}
{"id": "HP:0025269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Panic attack", "equivalent_identifiers": ["HP:0025269", "NCIT:C92620", "UMLS:C0086769", "MEDDRA:10033664", "MEDDRA:10033665", "SNOMEDCT:225624000"], "information_content": 100.0}
{"id": "MONDO:0012295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C5 Deficiency", "equivalent_identifiers": ["MONDO:0012295", "DOID:8158", "OMIM:609536", "UMLS:C0343047", "MESH:C537005", "MEDDRA:10075556", "NCIT:C9469", "SNOMEDCT:263661007", "medgen:91003"], "information_content": 90.9}
{"id": "HP:0025434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating CH50 activity", "equivalent_identifiers": ["HP:0025434", "UMLS:C4476774"], "information_content": 100.0}
{"id": "HP:0005430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent Neisserial infections", "equivalent_identifiers": ["HP:0005430", "UMLS:C3151083"], "information_content": 95.4}
{"id": "HP:0007569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized seborrheic dermatitis", "equivalent_identifiers": ["HP:0007569", "UMLS:C4024844", "SNOMEDCT:1251359008"], "information_content": 100.0}
{"id": "HP:0033060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement C5 concentration", "equivalent_identifiers": ["HP:0033060", "UMLS:C5421577"], "information_content": 100.0}
{"id": "MONDO:0010857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pick Complex", "equivalent_identifiers": ["MONDO:0010857", "DOID:0081391", "OMIM:600274", "orphanet:100069", "UMLS:C0338462", "UMLS:C0520716", "UMLS:C1838313", "UMLS:C4476841", "MESH:C563003", "MESH:C563966", "SNOMEDCT:230288001", "SNOMEDCT:42369001", "medgen:83268", "HP:0030219"], "information_content": 95.4}
{"id": "HP:0008768", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sexual behavior", "equivalent_identifiers": ["HP:0008768", "UMLS:C0474420", "UMLS:C1999009", "SNOMEDCT:102946008", "SNOMEDCT:248099006"], "information_content": 89.4}
{"id": "MONDO:0014703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome 6", "equivalent_identifiers": ["MONDO:0014703", "OMIM:616589", "UMLS:C4225271", "medgen:908556"], "information_content": 100.0}
{"id": "MONDO:0859245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 32", "equivalent_identifiers": ["MONDO:0859245", "DOID:0070413", "OMIM:619862", "UMLS:C5676978", "medgen:1802496"], "information_content": 100.0}
{"id": "HP:0045084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb myoclonus", "equivalent_identifiers": ["HP:0045084", "UMLS:C4477055"], "information_content": 95.4}
{"id": "MONDO:0008833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal-hepatic-pancreatic dysplasia 1", "equivalent_identifiers": ["MONDO:0008833", "OMIM:208540", "UMLS:C3715199", "medgen:811626"], "information_content": 100.0}
{"id": "HP:0002009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Potter facies", "equivalent_identifiers": ["HP:0002009", "UMLS:C0266619", "SNOMEDCT:24814002"], "information_content": 100.0}
{"id": "MONDO:0013049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DPM3-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013049", "OMIM:612937", "orphanet:263494", "UMLS:C2752007", "MESH:C567857", "SNOMEDCT:725044000", "medgen:414534"], "information_content": 95.4}
{"id": "MONDO:0012795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic rickets and hyperparathyroidism", "equivalent_identifiers": ["MONDO:0012795", "OMIM:612089", "UMLS:C2677524", "MESH:C567423", "medgen:383131"], "information_content": 100.0}
{"id": "HP:0000897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rachitic rosary", "equivalent_identifiers": ["HP:0000897", "UMLS:C0426824", "UMLS:C4551565", "MEDDRA:10077431", "MEDDRA:10077432", "SNOMEDCT:15214001", "SNOMEDCT:249702007"], "information_content": 100.0}
{"id": "MONDO:0006354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parathyroid hyperplasia", "equivalent_identifiers": ["MONDO:0006354", "EFO:1000457", "UMLS:C0271844", "MEDDRA:10079611", "NCIT:C3989", "SNOMEDCT:9092004", "medgen:75767", "HP:0008208"], "information_content": 87.2}
{"id": "MONDO:0008676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "white sponge nevus 1", "equivalent_identifiers": ["MONDO:0008676", "DOID:0081287", "OMIM:193900", "UMLS:C4011926", "medgen:860363"], "information_content": 100.0}
{"id": "MONDO:0012571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 6", "equivalent_identifiers": ["MONDO:0012571", "DOID:0110606", "OMIM:610852", "UMLS:C1970506", "MESH:C567057", "medgen:370930"], "information_content": 100.0}
{"id": "HP:0200109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent/shortened outer dynein arms", "equivalent_identifiers": ["HP:0200109", "UMLS:C2750161"], "information_content": 100.0}
{"id": "HP:0005938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal respiratory motile cilium morphology", "equivalent_identifiers": ["HP:0005938", "UMLS:C4025100"], "information_content": 80.9}
{"id": "MONDO:0009673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, type II", "equivalent_identifiers": ["MONDO:0009673", "DOID:0050530", "DOID:0060160", "OMIM:253550", "orphanet:83418", "UMLS:C0393538", "UMLS:C0700595", "UMLS:C2931358", "MESH:C536879", "MESH:D014897", "MEDDRA:10079416", "NCIT:C156310", "NCIT:C85076", "SNOMEDCT:128212001", "medgen:95975", "icd11.foundation:867148636"], "information_content": 92.8}
{"id": "MONDO:0009147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive", "equivalent_identifiers": ["MONDO:0009147", "DOID:0111665", "OMIM:224900", "UMLS:C3887494", "medgen:854356"], "information_content": 100.0}
{"id": "HP:0001106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periorbital hyperpigmentation", "equivalent_identifiers": ["HP:0001106", "UMLS:C1844606", "MEDDRA:10084812"], "information_content": 100.0}
{"id": "MONDO:0010114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thanatophoric dysplasia, Glasgow variant", "equivalent_identifiers": ["MONDO:0010114", "OMIM:273680", "UMLS:C1848865", "MESH:C536506", "medgen:376457"], "information_content": 100.0}
{"id": "MONDO:0011491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 7", "equivalent_identifiers": ["MONDO:0011491", "OMIM:604827", "UMLS:C2751729", "medgen:442800"], "information_content": 100.0}
{"id": "MONDO:0013041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome with I factor anomaly", "equivalent_identifiers": ["MONDO:0013041", "OMIM:612923", "UMLS:C2752039", "medgen:414542"], "information_content": 100.0}
{"id": "MONDO:0010183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria and homocystinuria type cblF", "equivalent_identifiers": ["MONDO:0010183", "DOID:0050717", "OMIM:277380", "orphanet:79284", "UMLS:C0268591", "UMLS:C1848578", "MESH:C564747", "NCIT:C183525", "SNOMEDCT:4409006", "SNOMEDCT:80887004", "medgen:336373"], "information_content": 100.0}
{"id": "MONDO:0009058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystathioninuria", "equivalent_identifiers": ["MONDO:0009058", "DOID:0090142", "OMIM:219500", "orphanet:212", "UMLS:C0220993", "UMLS:C0268616", "UMLS:C3495552", "MESH:C535408", "MESH:C562680", "NCIT:C129070", "SNOMEDCT:13003007", "SNOMEDCT:6885006", "medgen:66353", "icd11.foundation:1415819835", "ICD10:E72.19", "HP:0003153"], "information_content": 95.4}
{"id": "HP:0003286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystathioninemia", "equivalent_identifiers": ["HP:0003286", "UMLS:C0268618", "SNOMEDCT:6669004"], "information_content": 95.4}
{"id": "MONDO:0006771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glossitis", "equivalent_identifiers": ["MONDO:0006771", "DOID:1456", "EFO:1000951", "UMLS:C0017675", "MESH:D005928", "MEDDRA:10018386", "MEDDRA:10021968", "MEDDRA:10043961", "NCIT:C112199", "SNOMEDCT:45534005", "medgen:6618", "icd11.foundation:843084384", "ICD10:K14.0", "ICD9:529.0", "HP:0000206"], "information_content": 90.9}
{"id": "MONDO:0859250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures", "equivalent_identifiers": ["MONDO:0859250", "OMIM:619876", "UMLS:C5676986", "medgen:1810140"], "information_content": 100.0}
{"id": "MONDO:0010542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 3B", "equivalent_identifiers": ["MONDO:0010542", "DOID:0110461", "OMIM:302045", "UMLS:C3668940", "MESH:C580047", "SNOMEDCT:702424003", "medgen:777148"], "information_content": 100.0}
{"id": "MONDO:0054742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 35", "equivalent_identifiers": ["MONDO:0054742", "DOID:0111464", "OMIM:617873", "UMLS:C4693466", "medgen:1639653"], "information_content": 100.0}
{"id": "MONDO:0030512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 85, autosomal recessive", "equivalent_identifiers": ["MONDO:0030512", "DOID:0112345", "OMIM:619686", "orphanet:631082", "UMLS:C5562053", "medgen:1794263"], "information_content": 100.0}
{"id": "MONDO:0032828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic tetraplegia and axial hypotonia, progressive", "equivalent_identifiers": ["MONDO:0032828", "OMIM:618598", "EFO:0010567", "UMLS:C5231422", "medgen:1684731"], "information_content": 100.0}
{"id": "MONDO:0859277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects", "equivalent_identifiers": ["MONDO:0859277", "OMIM:620007", "UMLS:C5774199", "medgen:1823972"], "information_content": 100.0}
{"id": "MONDO:0010391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioma serpiginosum, X-linked", "equivalent_identifiers": ["MONDO:0010391", "OMIM:300652", "UMLS:C4721404", "MESH:C536366", "medgen:1648301"], "information_content": 100.0}
{"id": "MONDO:0009642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mohr Syndrome", "equivalent_identifiers": ["MONDO:0009642", "DOID:0060959", "OMIM:252100", "orphanet:2751", "UMLS:C0026363", "MEDDRA:10078419", "MEDDRA:10078421", "SNOMEDCT:1779005", "medgen:10077"], "information_content": 100.0}
{"id": "HP:0010101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial duplication of the phalanges of the hallux", "equivalent_identifiers": ["HP:0010101", "UMLS:C1855005"], "information_content": 90.9}
{"id": "HP:0006136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral postaxial polydactyly", "equivalent_identifiers": ["HP:0006136", "UMLS:C1855003"], "information_content": 100.0}
{"id": "HP:0006289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of central incisor", "equivalent_identifiers": ["HP:0006289", "UMLS:C1855000", "UMLS:C4020819"], "information_content": 87.2}
{"id": "MONDO:0011173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocythemia 2", "equivalent_identifiers": ["MONDO:0011173", "OMIM:601977", "UMLS:C3275998", "medgen:477629"], "information_content": 100.0}
{"id": "HP:0005513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased megakaryocyte count", "equivalent_identifiers": ["HP:0005513", "UMLS:C4025187"], "information_content": 100.0}
{"id": "MONDO:0008142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thiemann disease, familial form", "equivalent_identifiers": ["MONDO:0008142", "OMIM:165700", "orphanet:3314", "UMLS:C0264081", "MESH:C537144", "SNOMEDCT:55166000", "medgen:82674", "icd11.foundation:67016273"], "information_content": 100.0}
{"id": "MONDO:0014396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1NN", "equivalent_identifiers": ["MONDO:0014396", "DOID:0110432", "OMIM:615916", "UMLS:C4014656", "medgen:863093"], "information_content": 100.0}
{"id": "HP:0012249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ST segment", "equivalent_identifiers": ["HP:0012249", "UMLS:C4022993"], "information_content": 86.3}
{"id": "MONDO:0958332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuromuscular disorder, congenital, with dysmorphic facies", "equivalent_identifiers": ["MONDO:0958332", "OMIM:620775", "UMLS:C5935643", "medgen:1857169"], "information_content": 100.0}
{"id": "MONDO:0017081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parietal encephalocele", "equivalent_identifiers": ["MONDO:0017081", "orphanet:268826", "UMLS:C0431294", "SNOMEDCT:253109005", "medgen:488903", "icd11.foundation:1122294944", "HP:0011816"], "information_content": 100.0}
{"id": "MONDO:0008061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nail-patella syndrome", "equivalent_identifiers": ["MONDO:0008061", "DOID:9467", "OMIM:161200", "orphanet:2614", "UMLS:C0027341", "MESH:D009261", "MEDDRA:10060903", "MEDDRA:10063431", "NCIT:C75120", "SNOMEDCT:22199006", "medgen:10257", "icd11.foundation:1121867410"], "information_content": 100.0}
{"id": "HP:0005255", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of pectoralis minor muscle", "equivalent_identifiers": ["HP:0005255", "UMLS:C1868158"], "information_content": 100.0}
{"id": "HP:0009780", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iliac horns", "equivalent_identifiers": ["HP:0009780", "UMLS:C0263925", "SNOMEDCT:84308008"], "information_content": 100.0}
{"id": "HP:0009781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lester's sign", "equivalent_identifiers": ["HP:0009781", "UMLS:C4024210"], "information_content": 100.0}
{"id": "HP:0009783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biceps aplasia", "equivalent_identifiers": ["HP:0009783", "UMLS:C3805764"], "information_content": 100.0}
{"id": "HP:0006650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickening of the lateral border of the scapula", "equivalent_identifiers": ["HP:0006650", "UMLS:C1834383"], "information_content": 100.0}
{"id": "HP:0009785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triceps aplasia", "equivalent_identifiers": ["HP:0009785", "UMLS:C3810484"], "information_content": 100.0}
{"id": "HP:0009788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quadriceps aplasia", "equivalent_identifiers": ["HP:0009788", "UMLS:C3805765"], "information_content": 100.0}
{"id": "HP:0006437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disproportionate prominence of the femoral medial condyle", "equivalent_identifiers": ["HP:0006437", "UMLS:C1834392"], "information_content": 100.0}
{"id": "HP:0006657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of first ribs", "equivalent_identifiers": ["HP:0006657", "UMLS:C1834386"], "information_content": 100.0}
{"id": "HP:0006424", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elongated radius", "equivalent_identifiers": ["HP:0006424", "UMLS:C4025048"], "information_content": 95.4}
{"id": "HP:0003997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic radial head", "equivalent_identifiers": ["HP:0003997", "UMLS:C4021695"], "information_content": 100.0}
{"id": "MONDO:0030518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 9, nonphotosensitive", "equivalent_identifiers": ["MONDO:0030518", "DOID:0061024", "OMIM:619692", "UMLS:C5562058", "medgen:1794268"], "information_content": 100.0}
{"id": "HP:0045055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tiger tail banding", "equivalent_identifiers": ["HP:0045055", "UMLS:C4073178"], "information_content": 100.0}
{"id": "MONDO:0014024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 43", "equivalent_identifiers": ["MONDO:0014024", "DOID:0110795", "OMIM:615043", "orphanet:320370", "UMLS:C2680446", "SNOMEDCT:764736001", "medgen:760531"], "information_content": 100.0}
{"id": "MONDO:0033200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 108", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0033200", "DOID:0080263", "OMIM:617654", "UMLS:C4539997", "medgen:1627841"], "information_content": 100.0}
{"id": "MONDO:0032815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 17", "equivalent_identifiers": ["MONDO:0032815", "DOID:0070448", "OMIM:618567", "UMLS:C5231412", "medgen:1684823"], "information_content": 100.0}
{"id": "MONDO:0012639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 18", "equivalent_identifiers": ["MONDO:0012639", "DOID:0110771", "OMIM:611225", "orphanet:209951", "UMLS:C2749936", "MESH:C567628", "SNOMEDCT:732932004", "medgen:442343"], "information_content": 100.0}
{"id": "HP:0033205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biceps hyperreflexia", "equivalent_identifiers": ["HP:0033205", "UMLS:C5421682"], "information_content": 100.0}
{"id": "MONDO:0008422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant sideroblastic anemia", "equivalent_identifiers": ["MONDO:0008422", "DOID:0060335", "OMIM:182170", "UMLS:C2674249", "UMLS:C4225428", "MESH:C567160", "SNOMEDCT:1148914007", "medgen:902781"], "information_content": 100.0}
{"id": "MONDO:0012687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cavitary optic disk anomaly", "equivalent_identifiers": ["MONDO:0012687", "OMIM:611543", "orphanet:464760", "UMLS:C1969063", "MESH:C566924", "SNOMEDCT:1197365006", "medgen:370593"], "information_content": 100.0}
{"id": "MONDO:0014933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 44", "equivalent_identifiers": ["MONDO:0014933", "DOID:0080424", "OMIM:617132", "UMLS:C4310700", "NCIT:C202547", "medgen:934667"], "information_content": 100.0}
{"id": "MONDO:0032598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 68", "equivalent_identifiers": ["MONDO:0032598", "DOID:0112204", "OMIM:618201", "UMLS:C4748688", "medgen:1648479"], "information_content": 100.0}
{"id": "MONDO:0011291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG6-congenital disorder of glycosylation 1C", "equivalent_identifiers": ["MONDO:0011291", "DOID:0080555", "OMIM:603147", "orphanet:79320", "UMLS:C2930997", "MESH:C535741", "NCIT:C126869", "SNOMEDCT:709412006", "medgen:443952"], "information_content": 100.0}
{"id": "HP:0008150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated serum transaminases during infections", "equivalent_identifiers": ["HP:0008150", "UMLS:C1864179"], "information_content": 100.0}
{"id": "MONDO:0014323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 68", "equivalent_identifiers": ["MONDO:0014323", "DOID:0110374", "OMIM:615725", "UMLS:C3810380", "medgen:816710"], "information_content": 100.0}
{"id": "MONDO:0007719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphragmatic hernia 1", "inheritance": "Multifactorial inheritance", "equivalent_identifiers": ["MONDO:0007719", "OMIM:142340", "UMLS:C1840643", "UMLS:C1840644", "MESH:C564188", "MESH:C564189", "medgen:327154"], "information_content": 100.0}
{"id": "MONDO:0009823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hyperoxaluria type 1", "equivalent_identifiers": ["MONDO:0009823", "DOID:0111670", "OMIM:259900", "orphanet:93598", "UMLS:C0268164", "MESH:C536414", "NCIT:C123212", "SNOMEDCT:65520001", "medgen:75658", "icd11.foundation:692812009"], "information_content": 100.0}
{"id": "MONDO:0002474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperoxaluria", "equivalent_identifiers": ["MONDO:0002474", "DOID:2977", "OMIM.PS:259900", "orphanet:416", "UMLS:C0020500", "UMLS:C0020501", "MESH:D006959", "MESH:D006960", "MEDDRA:10020703", "MEDDRA:10084111", "NCIT:C123158", "SNOMEDCT:17901006", "SNOMEDCT:367621000119107", "medgen:5697", "ICD10:E72.53", "ICD10:R82.992", "HP:0003159"], "information_content": 90.9}
{"id": "HP:0025520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcinosis cutis", "equivalent_identifiers": ["HP:0025520", "UMLS:C0006664", "MEDDRA:10074496", "MEDDRA:10074505", "SNOMEDCT:21323007", "MESH:D000092182"], "information_content": 100.0}
{"id": "HP:6000431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary glycolic acid level", "equivalent_identifiers": ["HP:6000431", "UMLS:C5937209"], "information_content": 100.0}
{"id": "HP:0035005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic alanine-glyoxylate aminotransferase activity", "equivalent_identifiers": ["HP:0035005", "UMLS:C5826829"], "information_content": 100.0}
{"id": "HP:0030507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal crystals", "equivalent_identifiers": ["HP:0030507", "UMLS:C4072992"], "information_content": 100.0}
{"id": "HP:6000702", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary glyoxylic acid level", "equivalent_identifiers": ["HP:6000702", "UMLS:C5937438"], "information_content": 100.0}
{"id": "MONDO:0014326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 9", "equivalent_identifiers": ["MONDO:0014326", "DOID:0110929", "OMIM:615731", "UMLS:C3810384", "medgen:816714"], "information_content": 100.0}
{"id": "MONDO:0008965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHARGE syndrome", "equivalent_identifiers": ["MONDO:0008965", "DOID:0050834", "OMIM:214800", "orphanet:138", "UMLS:C0265354", "UMLS:C2936502", "MESH:D058747", "MEDDRA:10064063", "NCIT:C75100", "SNOMEDCT:47535005", "medgen:75567", "icd11.foundation:52086532"], "information_content": 100.0}
{"id": "HP:0010443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid femur", "equivalent_identifiers": ["HP:0010443", "UMLS:C4023824"], "information_content": 100.0}
{"id": "HP:0000772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal rib morphology", "equivalent_identifiers": ["HP:0000772", "UMLS:C1842083"], "information_content": 71.2}
{"id": "HP:0010515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the thymus", "equivalent_identifiers": ["HP:0010515", "UMLS:C3278004", "UMLS:C4023796"], "information_content": 90.9}
{"id": "HP:0001018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal palmar dermatoglyphics", "equivalent_identifiers": ["HP:0001018", "UMLS:C4025810"], "information_content": 79.6}
{"id": "HP:0011480", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral microphthalmos", "equivalent_identifiers": ["HP:0011480", "NCIT:C101190", "UMLS:C3640024", "UMLS:C4280323"], "information_content": 100.0}
{"id": "MONDO:0009893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type A5", "equivalent_identifiers": ["MONDO:0009893", "OMIM:263450", "UMLS:C3550661", "medgen:763575"], "information_content": 100.0}
{"id": "MONDO:0014931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alazami-Yuan syndrome", "equivalent_identifiers": ["MONDO:0014931", "OMIM:617126", "UMLS:C4310702", "medgen:934669"], "information_content": 100.0}
{"id": "MONDO:0011755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "senior-loken syndrome 3", "equivalent_identifiers": ["MONDO:0011755", "OMIM:606995", "UMLS:C1846980", "MESH:C564637", "medgen:335569"], "information_content": 100.0}
{"id": "MONDO:0032819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism, congenital, nongoitrous, 7", "equivalent_identifiers": ["MONDO:0032819", "DOID:0111836", "OMIM:618573", "orphanet:99832", "UMLS:C1861106", "MESH:C566049", "SNOMEDCT:725462002", "medgen:349957"], "information_content": 100.0}
{"id": "MONDO:0011832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 44", "equivalent_identifiers": ["MONDO:0011832", "DOID:0110569", "OMIM:607453", "UMLS:C1843895", "MESH:C564399", "medgen:334525"], "information_content": 100.0}
{"id": "HP:0011390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal inner ear morphology", "equivalent_identifiers": ["HP:0011390", "UMLS:C4023381"], "information_content": 64.2}
{"id": "MONDO:0054752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple synostoses syndrome 4", "equivalent_identifiers": ["MONDO:0054752", "DOID:0081320", "OMIM:617898", "UMLS:C4693531", "medgen:1638842"], "information_content": 100.0}
{"id": "MONDO:0010462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Chudley-Schwartz type", "equivalent_identifiers": ["MONDO:0010462", "DOID:0060819", "OMIM:300861", "UMLS:C3275471", "medgen:477102"], "information_content": 100.0}
{"id": "MONDO:0013262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1S", "equivalent_identifiers": ["MONDO:0013262", "DOID:0110454", "OMIM:613426", "UMLS:C1834481", "MESH:C563538", "medgen:371831"], "information_content": 100.0}
{"id": "HP:0034192", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary thromboembolism", "equivalent_identifiers": ["HP:0034192", "UMLS:C0524702", "MEDDRA:10037436", "SNOMEDCT:233935004"], "information_content": 100.0}
{"id": "MONDO:0009872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bjornstad syndrome", "equivalent_identifiers": ["MONDO:0009872", "DOID:0050677", "OMIM:262000", "orphanet:123", "UMLS:C0266006", "MESH:C537633", "SNOMEDCT:67817003", "medgen:82728"], "information_content": 100.0}
{"id": "HP:0003329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes", "equivalent_identifiers": ["HP:0003329", "UMLS:C4025631"], "information_content": 100.0}
{"id": "MONDO:0060562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities", "equivalent_identifiers": ["MONDO:0060562", "OMIM:617668", "UMLS:C4540052", "medgen:1624694"], "information_content": 100.0}
{"id": "HP:6000830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000830", "UMLS:C5937551"], "information_content": 100.0}
{"id": "HP:0031518", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent posterior alpha rhythm", "equivalent_identifiers": ["HP:0031518", "UMLS:C4531069"], "information_content": 100.0}
{"id": "MONDO:0010451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 41", "equivalent_identifiers": ["MONDO:0010451", "DOID:0112058", "OMIM:300849", "UMLS:C3887939", "medgen:854647"], "information_content": 100.0}
{"id": "MONDO:0030492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 59", "equivalent_identifiers": ["MONDO:0030492", "DOID:0112357", "OMIM:619645", "UMLS:C5562034", "medgen:1794244"], "information_content": 100.0}
{"id": "OMIM:616576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY", "equivalent_identifiers": ["OMIM:616576", "UMLS:C4225277"]}
{"id": "MONDO:0013735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome", "equivalent_identifiers": ["MONDO:0013735", "OMIM:614407", "orphanet:329332", "UMLS:C3280692", "SNOMEDCT:764732004", "medgen:482322"], "information_content": 100.0}
{"id": "MONDO:0009958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Refsum disease", "equivalent_identifiers": ["MONDO:0009958", "DOID:10582", "OMIM:266500", "orphanet:773", "UMLS:C0034960", "UMLS:C2749345", "MESH:C567602", "MESH:D012035", "MEDDRA:10034999", "MEDDRA:10038275", "NCIT:C85043", "SNOMEDCT:25362006", "medgen:11161", "ICD9:356.3"], "information_content": 100.0}
{"id": "HP:4000163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced phytanic acid oxidase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000163", "UMLS:C5826893"], "information_content": 100.0}
{"id": "MONDO:0012793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypouricemia, renal, 2", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012793", "OMIM:612076", "UMLS:C2677549", "UMLS:C2677550", "UMLS:C2677551", "MESH:C567426", "medgen:436974"], "information_content": 100.0}
{"id": "MONDO:0030873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofacioneurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0030873", "OMIM:619123", "UMLS:C5436852", "medgen:1721861"], "information_content": 100.0}
{"id": "HP:0008386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the nails", "equivalent_identifiers": ["HP:0008386", "UMLS:C1859077"], "information_content": 77.6}
{"id": "HP:0007477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dermatoglyphics", "equivalent_identifiers": ["HP:0007477", "UMLS:C0432333", "MEDDRA:10012497", "MEDDRA:10061455", "SNOMEDCT:83145004"], "information_content": 78.3}
{"id": "MONDO:0011624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transaldolase deficiency", "equivalent_identifiers": ["MONDO:0011624", "OMIM:606003", "orphanet:101028", "UMLS:C1291329", "MESH:C563207", "SNOMEDCT:124252008", "medgen:224855", "icd11.foundation:424536994"], "information_content": 100.0}
{"id": "MONDO:0008019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mullerian aplasia and hyperandrogenism", "equivalent_identifiers": ["MONDO:0008019", "DOID:0111526", "OMIM:158330", "orphanet:247768", "UMLS:C2675014", "MESH:C567186", "MEDDRA:10088125", "NCIT:C120376", "medgen:390686"], "information_content": 100.0}
{"id": "HP:0032073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the fallopian tube", "equivalent_identifiers": ["HP:0032073", "UMLS:C5139111", "SNOMEDCT:1144870004"], "information_content": 100.0}
{"id": "HP:0000811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal external genitalia morphology", "equivalent_identifiers": ["HP:0000811", "UMLS:C4025825"], "information_content": 62.2}
{"id": "MONDO:0019007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginal atresia", "equivalent_identifiers": ["MONDO:0019007", "orphanet:65681", "UMLS:C0220763", "UMLS:C1321884", "UMLS:C1841990", "MEDDRA:10046879", "SNOMEDCT:1144871000", "SNOMEDCT:248871003", "medgen:232948", "icd11.foundation:1126562070", "HP:0003250"], "information_content": 90.9}
{"id": "HP:0034589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating dehydroepiandrosterone-sulfate concentration", "equivalent_identifiers": ["HP:0034589", "UMLS:C5826501"], "information_content": 100.0}
{"id": "MONDO:0021011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary progressive chorea without dementia", "equivalent_identifiers": ["MONDO:0021011", "OMIM:118700", "UMLS:C0393584", "medgen:98278"], "information_content": 100.0}
{"id": "MONDO:0014530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 18", "equivalent_identifiers": ["MONDO:0014530", "DOID:0080042", "OMIM:616204", "orphanet:363432", "UMLS:C4015505", "medgen:863942"], "information_content": 100.0}
{"id": "MONDO:0012253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia", "equivalent_identifiers": ["MONDO:0012253", "OMIM:609324", "orphanet:166029", "UMLS:C1836315", "MESH:C563736", "SNOMEDCT:763893008", "medgen:324484"], "information_content": 100.0}
{"id": "HP:0004582", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregularity of vertebral bodies", "equivalent_identifiers": ["HP:0004582", "UMLS:C4025311"], "information_content": 100.0}
{"id": "HP:0006398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat distal femoral epiphysis", "equivalent_identifiers": ["HP:0006398", "UMLS:C4021599"], "information_content": 100.0}
{"id": "MONDO:0032612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 7", "equivalent_identifiers": ["MONDO:0032612", "DOID:0112092", "OMIM:618229", "UMLS:C4748760", "medgen:1648484"], "information_content": 100.0}
{"id": "HP:0001074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical nevi in non-sun exposed areas", "equivalent_identifiers": ["HP:0001074", "UMLS:C4021837"], "information_content": 100.0}
{"id": "MONDO:0011211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "axial spondylometaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0011211", "DOID:0112299", "OMIM:602271", "orphanet:168549", "UMLS:C1865695", "MESH:C535795", "SNOMEDCT:771301002", "medgen:356065", "icd11.foundation:834893572"], "information_content": 100.0}
{"id": "MONDO:0012166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant sensory ataxia 1", "equivalent_identifiers": ["MONDO:0012166", "DOID:0111170", "OMIM:608984", "UMLS:C1837015", "MESH:C563818", "medgen:332346"], "information_content": 100.0}
{"id": "HP:0006962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gait instability, worse in the dark", "equivalent_identifiers": ["HP:0006962", "UMLS:C1837016"], "information_content": 100.0}
{"id": "MONDO:0859211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hyperkinetic movements and dyskinesia", "equivalent_identifiers": ["MONDO:0859211", "OMIM:619651", "UMLS:C5562038", "medgen:1794248"], "information_content": 100.0}
{"id": "MONDO:0014692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 74", "equivalent_identifiers": ["MONDO:0014692", "DOID:0110401", "OMIM:616562", "UMLS:C4225281", "medgen:906896"], "information_content": 100.0}
{"id": "MONDO:0010101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Teebi-Shaltout syndrome", "equivalent_identifiers": ["MONDO:0010101", "OMIM:272950", "orphanet:3291", "UMLS:C1848912", "MESH:C536950", "SNOMEDCT:771265006", "medgen:376472"], "information_content": 100.0}
{"id": "HP:0010291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent palatine ridges", "equivalent_identifiers": ["HP:0010291", "UMLS:C4021300"], "information_content": 100.0}
{"id": "MONDO:0049223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, type 19", "equivalent_identifiers": ["MONDO:0049223", "DOID:0111847", "OMIM:301014", "UMLS:C4746956", "NCIT:C164153", "medgen:1648353"], "information_content": 100.0}
{"id": "MONDO:0013176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weill-Marchesani 4 syndrome, recessive", "equivalent_identifiers": ["MONDO:0013176", "OMIM:613195", "orphanet:363992", "UMLS:C2750787", "MESH:C567710", "medgen:416383"], "information_content": 100.0}
{"id": "HP:0012629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phakodonesis", "equivalent_identifiers": ["HP:0012629", "UMLS:C0423336", "UMLS:C2939415", "SNOMEDCT:116669003", "SNOMEDCT:247051009"], "information_content": 100.0}
{"id": "MONDO:0013901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 10", "equivalent_identifiers": ["MONDO:0013901", "DOID:0070178", "OMIM:614822", "UMLS:C3553793", "medgen:766707"], "information_content": 100.0}
{"id": "MONDO:0008710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RAB23-related Carpenter syndrome", "equivalent_identifiers": ["MONDO:0008710", "DOID:0061098", "OMIM:201000", "UMLS:C4551510", "SNOMEDCT:205813009", "medgen:1644017"], "information_content": 100.0}
{"id": "HP:0010093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of the proximal phalanx of the hallux", "equivalent_identifiers": ["HP:0010093", "UMLS:C4024054"], "information_content": 92.8}
{"id": "HP:0006397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lateral displacement of patellae", "equivalent_identifiers": ["HP:0006397", "UMLS:C1860156"], "information_content": 100.0}
{"id": "HP:0009608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete duplication of proximal phalanx of the thumb", "equivalent_identifiers": ["HP:0009608", "UMLS:C4024273"], "information_content": 100.0}
{"id": "MONDO:0014116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 2", "equivalent_identifiers": ["MONDO:0014116", "DOID:0090133", "OMIM:615282", "UMLS:C3809013", "medgen:815343"], "information_content": 100.0}
{"id": "MONDO:0014844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 12", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014844", "OMIM:616947", "UMLS:C4310782", "medgen:934749"], "information_content": 100.0}
{"id": "MONDO:0060490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "equivalent_identifiers": ["MONDO:0060490", "OMIM:617481", "orphanet:544469", "UMLS:C4479566", "SNOMEDCT:1222657001", "medgen:1380860"], "information_content": 100.0}
{"id": "MONDO:0013615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis and dental anomalies", "equivalent_identifiers": ["MONDO:0013615", "OMIM:614188", "orphanet:284149", "UMLS:C3280073", "SNOMEDCT:773332008", "medgen:481703"], "information_content": 100.0}
{"id": "HP:0011455", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent malleus", "equivalent_identifiers": ["HP:0011455", "UMLS:C0576900", "SNOMEDCT:300169003"], "information_content": 95.4}
{"id": "MONDO:0007405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crouzon syndrome", "equivalent_identifiers": ["MONDO:0007405", "DOID:2339", "OMIM:123500", "orphanet:207", "UMLS:C0010273", "UMLS:C2931196", "MESH:D003394", "MEDDRA:10066946", "MEDDRA:10066950", "NCIT:C84653", "SNOMEDCT:28861008", "medgen:1162", "icd11.foundation:1535725821", "ICD10:Q75.1", "HP:0004439"], "information_content": 92.8}
{"id": "HP:0000263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oxycephaly", "equivalent_identifiers": ["HP:0000263", "UMLS:C4551646", "MEDDRA:10080833"], "information_content": 100.0}
{"id": "HP:0100798", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fingernail dysplasia", "equivalent_identifiers": ["HP:0100798", "UMLS:C4020952"], "information_content": 100.0}
{"id": "MONDO:0007560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reading seizures", "equivalent_identifiers": ["MONDO:0007560", "OMIM:132300", "orphanet:166433", "UMLS:C0278193", "SNOMEDCT:7689009", "medgen:75817"], "information_content": 100.0}
{"id": "DOID:9169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wiskott-Aldrich syndrome", "equivalent_identifiers": ["DOID:9169", "OMIM:301000", "UMLS:C0043194", "MESH:D014923", "MEDDRA:10001659", "MEDDRA:10047992", "NCIT:C3448", "SNOMEDCT:36070007", "ICD10:D82.0", "ICD9:279.12"], "information_content": 92.8}
{"id": "HP:0005310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large vessel vasculitis", "equivalent_identifiers": ["HP:0005310", "UMLS:C4025218", "SNOMEDCT:724597006"], "information_content": 100.0}
{"id": "HP:0001983", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced lymphocyte surface expression of CD43", "equivalent_identifiers": ["HP:0001983", "UMLS:C4021766"], "information_content": 100.0}
{"id": "HP:0002971", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent microvilli on the surface of peripheral blood lymphocytes", "equivalent_identifiers": ["HP:0002971", "UMLS:C1833173"], "information_content": 100.0}
{"id": "HP:0011944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small vessel vasculitis", "equivalent_identifiers": ["HP:0011944", "UMLS:C4023113", "SNOMEDCT:724599009"], "information_content": 100.0}
{"id": "HP:0002848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased specific anti-polysaccharide antibody level", "equivalent_identifiers": ["HP:0002848", "UMLS:C4021747"], "information_content": 100.0}
{"id": "HP:0002963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal delayed hypersensitivity skin test", "equivalent_identifiers": ["HP:0002963", "UMLS:C1833172"], "information_content": 92.8}
{"id": "MONDO:0007633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness", "equivalent_identifiers": ["MONDO:0007633", "OMIM:136600", "UMLS:C1850982", "MESH:C564999", "medgen:376920"], "information_content": 100.0}
{"id": "MONDO:0010572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "occipital horn syndrome", "equivalent_identifiers": ["MONDO:0010572", "DOID:0111272", "OMIM:304150", "orphanet:198", "UMLS:C0268353", "MESH:C537860", "SNOMEDCT:59399004", "medgen:82793"], "information_content": 100.0}
{"id": "HP:0003276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelvic bone exostoses", "equivalent_identifiers": ["HP:0003276", "UMLS:C1844689"], "information_content": 100.0}
{"id": "HP:0005302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carotid artery tortuosity", "equivalent_identifiers": ["HP:0005302", "UMLS:C1303076", "SNOMEDCT:401051003"], "information_content": 100.0}
{"id": "MONDO:0003329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureteral obstruction", "equivalent_identifiers": ["MONDO:0003329", "DOID:5199", "UMLS:C0029866", "UMLS:C0041956", "MESH:D014517", "MEDDRA:10029970", "MEDDRA:10030007", "MEDDRA:10046381", "MEDDRA:10046406", "NCIT:C79802", "SNOMEDCT:20018005", "SNOMEDCT:766956009", "medgen:12012", "ICD9:593.4", "HP:0006000"], "information_content": 85.5}
{"id": "MONDO:0026726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 20", "equivalent_identifiers": ["MONDO:0026726", "DOID:0070357", "OMIM:301028", "UMLS:C5193011", "medgen:1678854"], "information_content": 100.0}
{"id": "MONDO:0030360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 6", "equivalent_identifiers": ["MONDO:0030360", "OMIM:619484", "UMLS:C5561965", "medgen:1794175"], "information_content": 100.0}
{"id": "HP:0011888", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bleeding requiring red cell transfusion", "equivalent_identifiers": ["HP:0011888", "UMLS:C4023144"], "information_content": 100.0}
{"id": "MONDO:0013430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 3", "equivalent_identifiers": ["MONDO:0013430", "DOID:0080514", "OMIM:613803", "UMLS:C3151113", "medgen:462463"], "information_content": 100.0}
{"id": "MONDO:0007449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermo-odonto dysplasia", "equivalent_identifiers": ["MONDO:0007449", "OMIM:125640", "orphanet:1660", "UMLS:C1852144", "MESH:C565103", "SNOMEDCT:721091003", "medgen:377602"], "information_content": 100.0}
{"id": "HP:0002552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichodysplasia", "equivalent_identifiers": ["HP:0002552", "UMLS:C4020850", "UMLS:C4025700"], "information_content": 100.0}
{"id": "MONDO:0859362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinemic hypoglycemia, familial, 8", "equivalent_identifiers": ["MONDO:0859362", "DOID:0081328", "OMIM:620211", "UMLS:C5774299", "medgen:1824072"], "information_content": 100.0}
{"id": "MONDO:0011930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 2", "equivalent_identifiers": ["MONDO:0011930", "DOID:0111692", "OMIM:607876", "UMLS:C1842852", "MESH:C564313", "medgen:375031"], "information_content": 100.0}
{"id": "MONDO:0010298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lesch-Nyhan syndrome", "equivalent_identifiers": ["MONDO:0010298", "DOID:1919", "OMIM:300322", "orphanet:510", "UMLS:C0023374", "UMLS:C1845892", "MESH:C564535", "MESH:D007926", "MEDDRA:10024245", "MEDDRA:10057589", "NCIT:C61255", "SNOMEDCT:10406007", "medgen:9721", "icd11.foundation:1886495906", "ICD10:E79.1"], "information_content": 95.4}
{"id": "MONDO:0008699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achalasia microcephaly syndrome", "equivalent_identifiers": ["MONDO:0008699", "DOID:0050796", "OMIM:200450", "orphanet:929", "UMLS:C1860212", "MESH:C536010", "SNOMEDCT:718573009", "medgen:349753"], "information_content": 100.0}
{"id": "MONDO:0007408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptotia, familial", "equivalent_identifiers": ["MONDO:0007408", "OMIM:123557", "UMLS:C1852455", "MESH:C565140", "medgen:342243"], "information_content": 100.0}
{"id": "HP:0011252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cryptotia", "equivalent_identifiers": ["HP:0011252", "UMLS:C2315717", "MEDDRA:10084250", "SNOMEDCT:429967001"], "information_content": 92.8}
{"id": "MONDO:0014230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "candidiasis, familial, 8", "equivalent_identifiers": ["MONDO:0014230", "OMIM:615527", "UMLS:C3714992", "medgen:811541"], "information_content": 100.0}
{"id": "MONDO:0013160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "equivalent_identifiers": ["MONDO:0013160", "DOID:0112380", "OMIM:613156", "UMLS:C3150416", "NCIT:C126690", "medgen:461766"], "information_content": 100.0}
{"id": "MONDO:0033201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 57", "equivalent_identifiers": ["MONDO:0033201", "DOID:0111635", "OMIM:618003", "UMLS:C4693893", "medgen:1631180"], "information_content": 100.0}
{"id": "MONDO:0010608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hhhh syndrome", "equivalent_identifiers": ["MONDO:0010608", "OMIM:306960", "UMLS:C1844019", "MESH:C564411", "medgen:336099"], "information_content": 100.0}
{"id": "MONDO:0015021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, ataxia, and delayed development syndrome", "equivalent_identifiers": ["MONDO:0015021", "DOID:0081176", "OMIM:617330", "orphanet:658843", "UMLS:C4310618", "medgen:934585"], "information_content": 100.0}
{"id": "MONDO:0009335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic uremic syndrome, atypical, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0009335", "OMIM:235400", "UMLS:C2749604", "medgen:412743"], "information_content": 92.8}
{"id": "MONDO:0011106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome", "equivalent_identifiers": ["MONDO:0011106", "OMIM:601552", "orphanet:412022", "UMLS:C1832167", "MESH:C563293", "SNOMEDCT:770728003", "medgen:330396"], "information_content": 100.0}
{"id": "HP:0020125", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous conjunctival filtering bleb", "equivalent_identifiers": ["HP:0020125", "UMLS:C5209225"], "information_content": 100.0}
{"id": "HP:0034375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spherophakia", "equivalent_identifiers": ["HP:0034375", "UMLS:C0266542", "MEDDRA:10041512", "MEDDRA:10041513", "SNOMEDCT:4465002"], "information_content": 95.4}
{"id": "MONDO:0013334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cocoon syndrome", "equivalent_identifiers": ["MONDO:0013334", "DOID:0060647", "OMIM:613630", "orphanet:465824", "UMLS:C3150891", "SNOMEDCT:1220575002", "medgen:462241"], "information_content": 100.0}
{"id": "HP:0009816", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb undergrowth", "equivalent_identifiers": ["HP:0009816", "UMLS:C0345371", "SNOMEDCT:253959002"], "information_content": 74.3}
{"id": "HP:0033984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary 8-oxo-7,8-dihydroguanosine level", "equivalent_identifiers": ["HP:0033984", "UMLS:C5542183"], "information_content": 100.0}
{"id": "MONDO:0007725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary progressive mucinous histiocytosis", "equivalent_identifiers": ["MONDO:0007725", "OMIM:142630", "orphanet:158025", "UMLS:C1840586", "MESH:C564186", "medgen:326771", "icd11.foundation:284196883"], "information_content": 100.0}
{"id": "HP:0040138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mucinous histiocytosis", "equivalent_identifiers": ["HP:0040138", "UMLS:C0334126", "SNOMEDCT:87412005"], "information_content": 100.0}
{"id": "MONDO:0009275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal hemochromatosis", "equivalent_identifiers": ["MONDO:0009275", "OMIM:231100", "orphanet:446", "UMLS:C0268059", "MESH:C536394", "MEDDRA:10078355", "MEDDRA:10078357", "NCIT:C129980", "SNOMEDCT:6160004", "medgen:82768"], "information_content": 100.0}
{"id": "HP:0011031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of iron homeostasis", "equivalent_identifiers": ["HP:0011031", "UMLS:C4023583"], "information_content": 82.1}
{"id": "MONDO:0008109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular cicatricial pemphigoid", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008109", "OMIM:164185", "orphanet:99922", "EFO:0008610", "UMLS:C1282359", "NCIT:C84939", "SNOMEDCT:314757003", "medgen:266181", "icd11.foundation:953963439"], "information_content": 100.0}
{"id": "MONDO:0007052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth hormone secreting pituitary adenoma 1", "equivalent_identifiers": ["MONDO:0007052", "DOID:0112009", "OMIM:102200", "EFO:0004125", "UMLS:C1863340", "UMLS:C3489630", "UMLS:C4521132", "UMLS:C4538355", "medgen:1618709"], "information_content": 100.0}
{"id": "HP:0030269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating insulin-like growth factor 1 concentration", "equivalent_identifiers": ["HP:0030269", "UMLS:C2676198"], "information_content": 100.0}
{"id": "MONDO:0019927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth hormone-producing pituitary gland neoplasm", "equivalent_identifiers": ["MONDO:0019927", "UMLS:C4018860", "medgen:866320", "HP:0011760"], "information_content": 89.4}
{"id": "MONDO:0010911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prolactinoma", "equivalent_identifiers": ["MONDO:0010911", "DOID:5394", "OMIM:600634", "orphanet:2965", "EFO:1000496", "UMLS:C0033375", "MESH:D015175", "MEDDRA:10036832", "NCIT:C3342", "SNOMEDCT:134209002", "SNOMEDCT:34337008", "medgen:10936", "HP:0006767"], "information_content": 89.4}
{"id": "MONDO:0010070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachyolmia type 1, Hobaek type", "equivalent_identifiers": ["MONDO:0010070", "OMIM:271530", "UMLS:C1849055", "MESH:C537099", "MEDDRA:10081835", "medgen:338605", "icd11.foundation:1213374086"], "information_content": 100.0}
{"id": "HP:0005004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened proximal radial epiphyses", "equivalent_identifiers": ["HP:0005004", "UMLS:C1849065"], "information_content": 100.0}
{"id": "HP:0003952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic foci of metaphyses of the elbow", "equivalent_identifiers": ["HP:0003952", "UMLS:C4021702"], "information_content": 100.0}
{"id": "MONDO:0008514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly type 3", "equivalent_identifiers": ["MONDO:0008514", "DOID:0111817", "OMIM:186100", "orphanet:93404", "UMLS:C1861366", "MESH:C538154", "SNOMEDCT:715725001", "medgen:396117", "icd11.foundation:144846004"], "information_content": 100.0}
{"id": "HP:0009162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent middle phalanx of 5th finger", "equivalent_identifiers": ["HP:0009162", "UMLS:C3277750"], "information_content": 100.0}
{"id": "HP:0010705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "4-5 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0010705", "UMLS:C4023731"], "information_content": 90.9}
{"id": "MONDO:0800437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carey-Fineman-Ziter syndrome 1", "equivalent_identifiers": ["MONDO:0800437", "DOID:0061115", "DOID:0080194", "OMIM:254940", "UMLS:C5676876", "MESH:C536102", "SNOMEDCT:429753001", "medgen:1804638"], "information_content": 100.0}
{"id": "MONDO:0044317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 13", "equivalent_identifiers": ["MONDO:0044317", "DOID:0080870", "OMIM:617442", "UMLS:C4479510", "medgen:1393321"], "information_content": 100.0}
{"id": "MONDO:0012723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 10", "equivalent_identifiers": ["MONDO:0012723", "DOID:0110291", "OMIM:611755", "UMLS:C1857821", "MESH:C565720", "medgen:346672"], "information_content": 100.0}
{"id": "MONDO:0009196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BADS Syndrome", "equivalent_identifiers": ["MONDO:0009196", "OMIM:227010", "orphanet:999", "UMLS:C1856899", "MESH:C535508", "MESH:C562663", "SNOMEDCT:10170007", "medgen:346466", "icd11.foundation:2048725507"], "information_content": 100.0}
{"id": "HP:0005585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spotty hyperpigmentation", "equivalent_identifiers": ["HP:0005585", "UMLS:C3806179"], "information_content": 100.0}
{"id": "HP:0008034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal iris pigmentation", "equivalent_identifiers": ["HP:0008034", "UMLS:C1834387"], "information_content": 83.1}
{"id": "MONDO:0859146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth restriction, hypoplastic kidneys, alopecia, and distinctive facies", "equivalent_identifiers": ["MONDO:0859146", "OMIM:619321", "UMLS:C5543375", "medgen:1784590"], "information_content": 100.0}
{"id": "HP:0430009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of eyelid", "equivalent_identifiers": ["HP:0430009", "UMLS:C0344499", "UMLS:C4280274", "SNOMEDCT:204203001"], "information_content": 90.9}
{"id": "MONDO:0011462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PAPA syndrome", "equivalent_identifiers": ["MONDO:0011462", "DOID:0080519", "OMIM:604416", "orphanet:69126", "UMLS:C1858361", "MESH:C536253", "MEDDRA:10072222", "MEDDRA:10072225", "NCIT:C119055", "SNOMEDCT:724015007", "medgen:346801"], "information_content": 100.0}
{"id": "HP:0040310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sterile arthritis", "equivalent_identifiers": ["HP:0040310", "UMLS:C4477044"], "information_content": 100.0}
{"id": "HP:0033188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystic acne", "equivalent_identifiers": ["HP:0033188", "UMLS:C0010666", "MEDDRA:10000503", "MEDDRA:10011758", "SNOMEDCT:13277001"], "information_content": 100.0}
{"id": "MONDO:0010751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "unique green phenomenon", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0010751", "OMIM:314380", "UMLS:C1839116", "medgen:326816"], "information_content": 100.0}
{"id": "MONDO:0008545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thalassemia, beta+, silent allele", "equivalent_identifiers": ["MONDO:0008545", "OMIM:187550", "UMLS:C1861232", "MESH:C566065", "medgen:349988"], "information_content": 100.0}
{"id": "HP:0011906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced beta/alpha synthesis ratio", "equivalent_identifiers": ["HP:0011906", "UMLS:C4023137"], "information_content": 100.0}
{"id": "MONDO:0800001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "delayed sleep phase syndrome, susceptibility to", "equivalent_identifiers": ["MONDO:0800001", "OMIM:614163", "UMLS:C3279991", "medgen:481621"], "information_content": 100.0}
{"id": "MONDO:0021068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian neoplasm", "equivalent_identifiers": ["MONDO:0021068", "EFO:0003893", "UMLS:C0919267", "MEDDRA:10033271", "MEDDRA:10033272", "MEDDRA:10061535", "NCIT:C4984", "SNOMEDCT:123843001", "medgen:181539", "HP:0100615"], "information_content": 58.1}
{"id": "MONDO:0012329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature and Facioauriculothoracic malformations", "equivalent_identifiers": ["MONDO:0012329", "OMIM:609654", "UMLS:C1864791", "MESH:C566457", "medgen:351216"], "information_content": 100.0}
{"id": "MONDO:0008456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia with rigidity and peripheral neuropathy", "equivalent_identifiers": ["MONDO:0008456", "OMIM:183050", "UMLS:C1866770", "MESH:C566669", "medgen:401079"], "information_content": 100.0}
{"id": "MONDO:0010820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive juvenile Parkinson disease 2", "equivalent_identifiers": ["MONDO:0010820", "DOID:0060368", "OMIM:600116", "UMLS:C1868675", "NCIT:C198603", "medgen:401500"], "information_content": 100.0}
{"id": "HP:0011960", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Substantia nigra gliosis", "equivalent_identifiers": ["HP:0011960", "UMLS:C1846865"], "information_content": 100.0}
{"id": "MONDO:0014765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wooly hair, autosomal recessive 3", "equivalent_identifiers": ["MONDO:0014765", "DOID:0111574", "OMIM:616760", "UMLS:C4225214", "medgen:902275"], "information_content": 100.0}
{"id": "MONDO:0030339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 28, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0030339", "DOID:0051039", "OMIM:619453", "UMLS:C5562069", "medgen:1794279"], "information_content": 100.0}
{"id": "MONDO:0012324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frias syndrome", "equivalent_identifiers": ["MONDO:0012324", "OMIM:609640", "orphanet:264200", "UMLS:C1864825", "MESH:C535639", "SNOMEDCT:771439009", "medgen:400621"], "information_content": 100.0}
{"id": "MONDO:0013329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial clubfoot due to 17q23.1q23.2 microduplication", "equivalent_identifiers": ["MONDO:0013329", "OMIM:613618", "orphanet:238578", "UMLS:C3150880", "medgen:462230"], "information_content": 100.0}
{"id": "MONDO:0024556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial focal, with variable foci 1", "equivalent_identifiers": ["MONDO:0024556", "DOID:0081421", "OMIM:604364", "UMLS:C4551983", "NCIT:C161005", "medgen:1641798"], "information_content": 100.0}
{"id": "HP:0032047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal cortical dysplasia type I", "equivalent_identifiers": ["HP:0032047", "NCIT:C201626", "UMLS:C4732821", "SNOMEDCT:1003463004"], "information_content": 90.9}
{"id": "HP:0005011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesomelic arm shortening", "equivalent_identifiers": ["HP:0005011", "UMLS:C1862087"], "information_content": 100.0}
{"id": "MONDO:0014105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 19 with or without anosmia", "equivalent_identifiers": ["MONDO:0014105", "DOID:0090090", "OMIM:615269", "UMLS:C3808981", "medgen:815311"], "information_content": 100.0}
{"id": "MONDO:0012839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyogenic bacterial infections due to MyD88 deficiency", "equivalent_identifiers": ["MONDO:0012839", "OMIM:612260", "UMLS:C2677092", "MESH:C567379", "medgen:383023", "icd11.foundation:444523526"], "information_content": 100.0}
{"id": "MONDO:0014454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hennekam lymphangiectasia-lymphedema syndrome 2", "equivalent_identifiers": ["MONDO:0014454", "OMIM:616006", "UMLS:C4014939", "medgen:863376"], "information_content": 100.0}
{"id": "MONDO:0013833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus 7", "equivalent_identifiers": ["MONDO:0013833", "OMIM:614629", "UMLS:C3553308", "medgen:766222"], "information_content": 100.0}
{"id": "MONDO:0014234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticulate acropigmentation of Kitamura", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0014234", "DOID:0060258", "OMIM:615537", "orphanet:178307", "UMLS:C0406811", "SNOMEDCT:239133004", "medgen:98363"], "information_content": 100.0}
{"id": "HP:0012733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macule", "equivalent_identifiers": ["HP:0012733", "NCIT:C43278", "UMLS:C0332573", "MEDDRA:10025421", "SNOMEDCT:112629002"], "information_content": 79.6}
{"id": "MONDO:0007252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gordon syndrome", "equivalent_identifiers": ["MONDO:0007252", "DOID:0111607", "OMIM:114300", "orphanet:376", "UMLS:C0220666", "MESH:C537288", "SNOMEDCT:237850008", "SNOMEDCT:897570002", "medgen:66314"], "information_content": 100.0}
{"id": "MONDO:0011584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group D1", "equivalent_identifiers": ["MONDO:0011584", "DOID:0111089", "OMIM:605724", "orphanet:319462", "UMLS:C1838457", "UMLS:C4707792", "MESH:C563980", "NCIT:C125705", "SNOMEDCT:766707003", "medgen:325420"], "information_content": 92.8}
{"id": "MONDO:0009970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular dysgenesis of genetic origin", "equivalent_identifiers": ["MONDO:0009970", "OMIM:267430", "orphanet:97369", "UMLS:C2678367", "UMLS:C5681536", "MESH:C567491", "medgen:1826125", "icd11.foundation:616055520"], "information_content": 95.4}
{"id": "MONDO:0017609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular dysgenesis", "equivalent_identifiers": ["MONDO:0017609", "OMIM:106180", "OMIM:614519", "orphanet:3033", "UMLS:C0266313", "UMLS:C1856857", "UMLS:C1862873", "UMLS:C1862874", "UMLS:C1862876", "UMLS:C1862877", "UMLS:C1862886", "UMLS:C3281105", "UMLS:C4015787", "MESH:C537048", "SNOMEDCT:702397002", "medgen:82738", "icd11.foundation:191424358", "HP:0008660"], "information_content": 89.4}
{"id": "MONDO:0009452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vici syndrome", "equivalent_identifiers": ["MONDO:0009452", "DOID:0060356", "OMIM:242840", "orphanet:1493", "UMLS:C1855772", "MESH:C535566", "NCIT:C138174", "SNOMEDCT:719824001", "medgen:340962"], "information_content": 100.0}
{"id": "HP:0002965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous anergy", "equivalent_identifiers": ["HP:0002965", "UMLS:C1855781"], "information_content": 100.0}
{"id": "MONDO:0010951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1B", "equivalent_identifiers": ["MONDO:0010951", "DOID:0110443", "OMIM:600884", "UMLS:C5700078", "medgen:1814491"], "information_content": 100.0}
{"id": "HP:0006670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired myocardial contractility", "equivalent_identifiers": ["HP:0006670", "UMLS:C4025009"], "information_content": 100.0}
{"id": "MONDO:0015018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis, congenital, autosomal recessive 12", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0015018", "OMIM:617320", "UMLS:C4310621", "medgen:934588"], "information_content": 100.0}
{"id": "MONDO:0033202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 109", "equivalent_identifiers": ["MONDO:0033202", "DOID:0111639", "OMIM:618013", "UMLS:C4693935", "medgen:1633308"], "information_content": 100.0}
{"id": "HP:0011380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal semicircular canal morphology", "equivalent_identifiers": ["HP:0011380", "UMLS:C4023386"], "information_content": 77.6}
{"id": "HP:0008555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent vestibular function", "equivalent_identifiers": ["HP:0008555", "UMLS:C4024656"], "information_content": 100.0}
{"id": "MONDO:0012471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 3", "equivalent_identifiers": ["MONDO:0012471", "OMIM:610329", "UMLS:C1835916", "MESH:C563683", "medgen:324389"], "information_content": 100.0}
{"id": "MONDO:0032909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 3 deficiency, nuclear type 10", "equivalent_identifiers": ["MONDO:0032909", "OMIM:618775", "UMLS:C5394051", "medgen:1719382"], "information_content": 100.0}
{"id": "MONDO:0022430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent fetal circulation syndrome", "equivalent_identifiers": ["MONDO:0022430", "EFO:1001103", "UMLS:C0031190", "MESH:D010547", "MEDDRA:10034708", "MEDDRA:10034709", "MEDDRA:10053592", "MEDDRA:10054726", "MEDDRA:10082195", "MEDDRA:10083882", "NCIT:C85006", "SNOMEDCT:206597007", "SNOMEDCT:233815004", "SNOMEDCT:35604006", "medgen:45824", "HP:0011726"], "information_content": 100.0}
{"id": "MONDO:0002243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemorrhagic disease", "equivalent_identifiers": ["MONDO:0002243", "DOID:2213", "UMLS:C0019087", "UMLS:C1846821", "MESH:D006474", "MEDDRA:10019009", "MEDDRA:10055279", "MEDDRA:10062713", "MEDDRA:10062720", "NCIT:C115221", "NCIT:C195006", "medgen:6799", "ICD10:D69.9", "ICD9:287.9", "HP:0001928"], "information_content": 66.0}
{"id": "MONDO:0011022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Potocki-Shaffer syndrome", "equivalent_identifiers": ["MONDO:0011022", "DOID:0111687", "OMIM:601224", "orphanet:52022", "UMLS:C1832588", "MESH:C538356", "NCIT:C75456", "SNOMEDCT:702346005", "medgen:318657", "icd11.foundation:1587521558"], "information_content": 100.0}
{"id": "MONDO:0010069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis-anal and genitourinary malformations syndrome", "equivalent_identifiers": ["MONDO:0010069", "OMIM:271520", "UMLS:C1849069", "MESH:C564799", "SNOMEDCT:723610009", "medgen:341373"], "information_content": 100.0}
{"id": "MONDO:0011442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "advanced sleep phase syndrome 1", "equivalent_identifiers": ["MONDO:0011442", "DOID:0110011", "OMIM:604348", "UMLS:C3807327", "medgen:813657"], "information_content": 100.0}
{"id": "MONDO:0011879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 7B", "equivalent_identifiers": ["MONDO:0011879", "DOID:0111202", "OMIM:607641", "UMLS:C1843315", "MESH:C564362", "medgen:375157"], "information_content": 100.0}
{"id": "MONDO:0009127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone", "equivalent_identifiers": ["MONDO:0009127", "OMIM:223500", "UMLS:C1857197", "MESH:C565615", "medgen:387764"], "information_content": 100.0}
{"id": "MONDO:0859567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2", "equivalent_identifiers": ["MONDO:0859567", "DOID:0081125", "OMIM:616994", "UMLS:C5676895", "medgen:1803802"], "information_content": 100.0}
{"id": "MONDO:0012064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0012064", "DOID:0080695", "OMIM:608572", "orphanet:1200", "UMLS:C1835913", "UMLS:C1837822", "MESH:C537411", "MESH:C563682", "SNOMEDCT:720640005", "medgen:325265"], "information_content": 100.0}
{"id": "HP:0200138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral choanal atresia/stenosis", "equivalent_identifiers": ["HP:0200138", "UMLS:C4021884"], "information_content": 100.0}
{"id": "MONDO:0009701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, granulovacuolar lobular, with electrical myotonia", "equivalent_identifiers": ["MONDO:0009701", "OMIM:254950", "UMLS:C1850745", "MESH:C564974", "medgen:338114"], "information_content": 100.0}
{"id": "MONDO:0044319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "equivalent_identifiers": ["MONDO:0044319", "OMIM:617452", "orphanet:505237", "UMLS:C4479520", "medgen:1375601"], "information_content": 100.0}
{"id": "MONDO:0007874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichorhinophalangeal syndrome type II", "equivalent_identifiers": ["MONDO:0007874", "DOID:4998", "OMIM:150230", "orphanet:502", "UMLS:C0023003", "MESH:D015826", "MEDDRA:10050638", "NCIT:C75118", "SNOMEDCT:41069008", "medgen:6009", "icd11.foundation:315453775"], "information_content": 92.8}
{"id": "HP:0000918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scapular exostoses", "equivalent_identifiers": ["HP:0000918", "UMLS:C1851415"], "information_content": 100.0}
{"id": "HP:0007595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Redundant skin in infancy", "equivalent_identifiers": ["HP:0007595", "UMLS:C1835587"], "information_content": 100.0}
{"id": "HP:0005039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple long-bone exostoses", "equivalent_identifiers": ["HP:0005039", "UMLS:C1835583"], "information_content": 100.0}
{"id": "HP:0000896", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rib exostoses", "equivalent_identifiers": ["HP:0000896", "UMLS:C1835579"], "information_content": 100.0}
{"id": "HP:0012159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Internal carotid artery dissection", "equivalent_identifiers": ["HP:0012159", "UMLS:C0751815", "SNOMEDCT:705066004", "MESH:D020215"], "information_content": 92.8}
{"id": "MONDO:0032901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Catifa syndrome", "equivalent_identifiers": ["MONDO:0032901", "OMIM:618761", "UMLS:C5231492", "medgen:1684686"], "information_content": 100.0}
{"id": "MONDO:0011024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatitis herpetiformis, familial", "equivalent_identifiers": ["MONDO:0011024", "OMIM:601230", "UMLS:C1832586", "MESH:C538218", "medgen:371361"], "information_content": 100.0}
{"id": "MONDO:0008436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sneddon syndrome", "equivalent_identifiers": ["MONDO:0008436", "DOID:13096", "OMIM:182410", "orphanet:820", "EFO:1001186", "UMLS:C0282492", "MESH:D018860", "MEDDRA:10053841", "SNOMEDCT:238776001", "SNOMEDCT:716745004", "medgen:76449", "icd11.foundation:1474816492"], "information_content": 100.0}
{"id": "HP:0033260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Livedo racemosa", "equivalent_identifiers": ["HP:0033260", "UMLS:C5441660"], "information_content": 100.0}
{"id": "MONDO:0030270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 9", "equivalent_identifiers": ["MONDO:0030270", "OMIM:619319", "UMLS:C5543365", "medgen:1779656"], "information_content": 100.0}
{"id": "HP:0033986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tortuous lymphatic vessels", "equivalent_identifiers": ["HP:0033986", "UMLS:C5543367"], "information_content": 100.0}
{"id": "MONDO:0013156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "equivalent_identifiers": ["MONDO:0013156", "DOID:0112379", "OMIM:613152", "UMLS:C2751052", "medgen:413465"], "information_content": 100.0}
{"id": "MONDO:0009195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema of acral regions", "equivalent_identifiers": ["MONDO:0009195", "OMIM:227000", "UMLS:C1856900", "medgen:384009"], "information_content": 100.0}
{"id": "MONDO:0014228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, Fuchs endothelial, 8", "equivalent_identifiers": ["MONDO:0014228", "OMIM:615523", "UMLS:C3809798", "medgen:816128"], "information_content": 100.0}
{"id": "MONDO:0012194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysm, intracranial berry, 3", "equivalent_identifiers": ["MONDO:0012194", "DOID:0080966", "OMIM:609122", "UMLS:C1836757", "MESH:C563792", "medgen:332280"], "information_content": 100.0}
{"id": "MONDO:0008913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac valvular defect, developmental", "equivalent_identifiers": ["MONDO:0008913", "DOID:0080633", "OMIM:212093", "UMLS:C1859330", "UMLS:C5774175", "MESH:C565882", "medgen:1823949"], "information_content": 100.0}
{"id": "MONDO:0006935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary subvalvular stenosis", "equivalent_identifiers": ["MONDO:0006935", "DOID:8861", "EFO:1001137", "UMLS:C0034084", "MESH:D011662", "MEDDRA:10010514", "MEDDRA:10022012", "NCIT:C34961", "SNOMEDCT:204370002", "medgen:11030", "ICD10:Q24.3", "ICD9:746.83", "HP:0034348"], "information_content": 100.0}
{"id": "HP:0031632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of the right subclavian artery from the descending aorta", "equivalent_identifiers": ["HP:0031632", "UMLS:C4703452"], "information_content": 100.0}
{"id": "HP:0011591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left aortic arch with cervical origin of the right subclavian artery", "equivalent_identifiers": ["HP:0011591", "UMLS:C4023281"], "information_content": 100.0}
{"id": "HP:0034350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Valvular pulmonary stenosis", "equivalent_identifiers": ["HP:0034350", "UMLS:C1860336"], "information_content": 100.0}
{"id": "HP:0008722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethral diverticulum", "equivalent_identifiers": ["HP:0008722", "NCIT:C39861", "UMLS:C0152443", "MEDDRA:10046449", "SNOMEDCT:90531003"], "information_content": 95.4}
{"id": "MONDO:0014451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 7", "equivalent_identifiers": ["MONDO:0014451", "DOID:0111132", "OMIM:616002", "UMLS:C4014925", "NCIT:C202604", "medgen:863362"], "information_content": 100.0}
{"id": "MONDO:0007906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial partial lipodystrophy, Dunnigan type", "equivalent_identifiers": ["MONDO:0007906", "DOID:0070202", "OMIM:151660", "orphanet:2348", "UMLS:C1720860", "NCIT:C165527", "SNOMEDCT:715439000", "medgen:354526", "icd11.foundation:2068585355"], "information_content": 100.0}
{"id": "HP:0012100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating creatinine concentration", "equivalent_identifiers": ["HP:0012100", "UMLS:C4021101"], "information_content": 88.2}
{"id": "HP:0007394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent superficial blood vessels", "equivalent_identifiers": ["HP:0007394", "UMLS:C1848771"], "information_content": 87.2}
{"id": "HP:0012645", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged peripheral nerve", "equivalent_identifiers": ["HP:0012645", "UMLS:C2675074"], "information_content": 100.0}
{"id": "HP:0009002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of truncal subcutaneous adipose tissue", "equivalent_identifiers": ["HP:0009002", "UMLS:C1835384"], "information_content": 100.0}
{"id": "HP:0008993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased intraabdominal fat", "equivalent_identifiers": ["HP:0008993", "UMLS:C1835390"], "information_content": 100.0}
{"id": "HP:0008739", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Labial pseudohypertrophy", "equivalent_identifiers": ["HP:0008739", "UMLS:C1835380"], "information_content": 100.0}
{"id": "HP:0033477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating lipoprotein lipase concentration", "equivalent_identifiers": ["HP:0033477", "UMLS:C5539627"], "information_content": 92.8}
{"id": "HP:0008985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased intramuscular fat", "equivalent_identifiers": ["HP:0008985", "UMLS:C1835389"], "information_content": 100.0}
{"id": "MONDO:0013824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 17", "equivalent_identifiers": ["MONDO:0013824", "DOID:0110986", "OMIM:614615", "UMLS:C3553264", "NCIT:C175702", "medgen:766178"], "information_content": 95.4}
{"id": "MONDO:0010752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VACTERL association, X-linked, with or without hydrocephalus", "equivalent_identifiers": ["MONDO:0010752", "DOID:0111766", "OMIM:314390", "UMLS:C2931228", "medgen:419019"], "information_content": 100.0}
{"id": "HP:0031853", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Isomerism", "equivalent_identifiers": ["HP:0031853", "UMLS:C4554010"], "information_content": 88.2}
{"id": "MONDO:0009634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microtia with meatal atresia and conductive deafness", "equivalent_identifiers": ["MONDO:0009634", "OMIM:251800", "UMLS:C2931502", "MESH:C537469", "medgen:419093"], "information_content": 100.0}
{"id": "MONDO:0013608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 13", "equivalent_identifiers": ["MONDO:0013608", "DOID:0110982", "OMIM:614173", "UMLS:C3280031", "medgen:481661"], "information_content": 100.0}
{"id": "MONDO:0011445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 11", "equivalent_identifiers": ["MONDO:0011445", "DOID:0110764", "OMIM:604360", "orphanet:2822", "UMLS:C1858479", "UMLS:C2931821", "MESH:C537483", "MESH:C538335", "NCIT:C148317", "SNOMEDCT:715491000", "medgen:388073"], "information_content": 100.0}
{"id": "HP:0007067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal peripheral sensory neuropathy", "equivalent_identifiers": ["HP:0007067", "UMLS:C4021582"], "information_content": 100.0}
{"id": "MONDO:0008027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular atrophy, malignant neurogenic", "equivalent_identifiers": ["MONDO:0008027", "OMIM:158650", "UMLS:C1834689", "MESH:C563559", "medgen:322469"], "information_content": 100.0}
{"id": "MONDO:0043775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory paralysis", "equivalent_identifiers": ["MONDO:0043775", "EFO:1001840", "UMLS:C0035232", "UMLS:C0521528", "UMLS:C4551685", "MESH:D012133", "MEDDRA:10012725", "MEDDRA:10033823", "MEDDRA:10038708", "SNOMEDCT:64228003", "SNOMEDCT:95430002", "medgen:19748", "HP:0002203"], "information_content": 100.0}
{"id": "MONDO:0100219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant", "equivalent_identifiers": ["MONDO:0100219", "DOID:0080837", "OMIM:618985", "UMLS:C5436546", "medgen:1723138"], "information_content": 100.0}
{"id": "MONDO:0014113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome 3", "equivalent_identifiers": ["MONDO:0014113", "DOID:0111462", "OMIM:615279", "UMLS:C3809006", "medgen:815336"], "information_content": 100.0}
{"id": "MONDO:0013604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 21, autosomal dominant", "equivalent_identifiers": ["MONDO:0013604", "OMIM:614167", "UMLS:C3279997", "medgen:481627"], "information_content": 100.0}
{"id": "MONDO:0013322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 3", "equivalent_identifiers": ["MONDO:0013322", "DOID:0111695", "OMIM:613608", "UMLS:C3150860", "MESH:C567098", "medgen:462210"], "information_content": 100.0}
{"id": "MONDO:0012198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PCWH syndrome", "equivalent_identifiers": ["MONDO:0012198", "DOID:0090111", "OMIM:609136", "orphanet:163746", "UMLS:C1836727", "MESH:C563789", "SNOMEDCT:765325002", "medgen:373160"], "information_content": 100.0}
{"id": "HP:0001053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypopigmented skin patches", "equivalent_identifiers": ["HP:0001053", "UMLS:C1836735"], "information_content": 90.9}
{"id": "HP:0011382", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the semicircular canal", "equivalent_identifiers": ["HP:0011382", "UMLS:C3552156"], "information_content": 100.0}
{"id": "HP:0006978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysmyelinating leukodystrophy", "equivalent_identifiers": ["HP:0006978", "UMLS:C3278204"], "information_content": 100.0}
{"id": "HP:0011284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short-segment aganglionic megacolon", "equivalent_identifiers": ["HP:0011284", "UMLS:C4023431"], "information_content": 100.0}
{"id": "HP:0011285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long-segment aganglionic megacolon", "equivalent_identifiers": ["HP:0011285", "UMLS:C4023430"], "information_content": 100.0}
{"id": "MONDO:0025699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 12", "equivalent_identifiers": ["MONDO:0025699", "DOID:0112370", "OMIM:619325", "UMLS:C5444111", "medgen:1782096"], "information_content": 100.0}
{"id": "HP:0030190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral motor hypotonia", "equivalent_identifiers": ["HP:0030190", "UMLS:C4022592"], "information_content": 100.0}
{"id": "HP:0010823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ridged cranial sutures", "equivalent_identifiers": ["HP:0010823", "UMLS:C4023692"], "information_content": 100.0}
{"id": "MONDO:0015015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 6", "equivalent_identifiers": ["MONDO:0015015", "DOID:0111067", "OMIM:617308", "UMLS:C4310624", "medgen:934591"], "information_content": 100.0}
{"id": "HP:0045014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypolipidemia", "equivalent_identifiers": ["HP:0045014", "UMLS:C0342892", "MEDDRA:10021023", "MEDDRA:10021024", "MEDDRA:10021025", "MEDDRA:10060386", "SNOMEDCT:238090007"], "information_content": 73.7}
{"id": "MONDO:0011190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 2", "equivalent_identifiers": ["MONDO:0011190", "DOID:0111113", "OMIM:602088", "orphanet:93591", "UMLS:C1865872", "MESH:C566582", "medgen:355574"], "information_content": 100.0}
{"id": "HP:0004734", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal cortical microcysts", "equivalent_identifiers": ["HP:0004734", "UMLS:C1865877"], "information_content": 100.0}
{"id": "HP:0005976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperkalemic metabolic acidosis", "equivalent_identifiers": ["HP:0005976", "UMLS:C1865880"], "information_content": 100.0}
{"id": "MONDO:0007417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Darier disease", "equivalent_identifiers": ["MONDO:0007417", "DOID:2734", "OMIM:124200", "orphanet:218", "UMLS:C0022595", "UMLS:C1852296", "UMLS:C1852297", "MESH:C565125", "MESH:C565126", "MESH:D007644", "MEDDRA:10011860", "MEDDRA:10023369", "NCIT:C84665", "SNOMEDCT:48611009", "medgen:5956", "icd11.foundation:643994486", "ICD10:E50.8"], "information_content": 100.0}
{"id": "HP:0011801", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlargement of parotid gland", "equivalent_identifiers": ["HP:0011801", "UMLS:C0341047", "MEDDRA:10014850", "MEDDRA:10034022", "MEDDRA:10034023", "MEDDRA:10034024", "MEDDRA:10034025", "SNOMEDCT:29748005"], "information_content": 100.0}
{"id": "HP:0010612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plantar pits", "equivalent_identifiers": ["HP:0010612", "UMLS:C1852301"], "information_content": 100.0}
{"id": "HP:0008410", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subungual hyperkeratotic fragments", "equivalent_identifiers": ["HP:0008410", "UMLS:C1852311"], "information_content": 100.0}
{"id": "HP:6001074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Longitudinal erythronychia", "equivalent_identifiers": ["HP:6001074", "UMLS:C5768641", "SNOMEDCT:1254880005"], "information_content": 100.0}
{"id": "MONDO:0013906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta hypomaturation type 2A4", "equivalent_identifiers": ["MONDO:0013906", "DOID:0110062", "OMIM:614832", "UMLS:C3553830", "medgen:766744"], "information_content": 100.0}
{"id": "MONDO:0010737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda, X-linked", "equivalent_identifiers": ["MONDO:0010737", "DOID:0080362", "OMIM:313400", "UMLS:C3541456", "MEDDRA:10074798", "medgen:762085", "icd11.foundation:219612045"], "information_content": 100.0}
{"id": "HP:0004594", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hump-shaped mound of bone in central and posterior portions of vertebral endplate", "equivalent_identifiers": ["HP:0004594", "UMLS:C1839252"], "information_content": 100.0}
{"id": "MONDO:0014841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 6, nonphotosensitive", "equivalent_identifiers": ["MONDO:0014841", "DOID:0111872", "OMIM:616943", "UMLS:C4310785", "medgen:934752"], "information_content": 100.0}
{"id": "MONDO:0700300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achalasia-progeroid syndrome", "equivalent_identifiers": ["MONDO:0700300", "OMIM:621123"], "information_content": 100.0}
{"id": "HP:0031568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened aortic valve cusp", "equivalent_identifiers": ["HP:0031568", "UMLS:C4531033"], "information_content": 100.0}
{"id": "HP:0003119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyslipidemia", "equivalent_identifiers": ["HP:0003119", "NCIT:C80385", "UMLS:C0242339", "UMLS:C4025650", "MEDDRA:10058108", "MEDDRA:10058110", "SNOMEDCT:370992007", "MESH:D050171"], "information_content": 61.6}
{"id": "MONDO:0011892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 9", "equivalent_identifiers": ["MONDO:0011892", "OMIM:607682", "UMLS:C2750887", "medgen:413424"], "information_content": 100.0}
{"id": "MONDO:0013620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 16", "equivalent_identifiers": ["MONDO:0013620", "DOID:0110682", "OMIM:614198", "UMLS:C3280112", "medgen:481742"], "information_content": 100.0}
{"id": "MONDO:0014119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-strabismus syndrome", "equivalent_identifiers": ["MONDO:0014119", "DOID:0081099", "OMIM:615286", "orphanet:363528", "UMLS:C4750838", "NCIT:C186789", "SNOMEDCT:773405004", "medgen:1665943"], "information_content": 100.0}
{"id": "MONDO:0013903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus 7, congenital, autosomal dominant", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0013903", "DOID:0111791", "OMIM:614826", "UMLS:C3553801", "medgen:766715"], "information_content": 100.0}
{"id": "MONDO:0015167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ADAM COMPLEX", "equivalent_identifiers": ["MONDO:0015167", "OMIM:217100", "orphanet:295000", "UMLS:C0002636", "UMLS:C0220724", "UMLS:C1857577", "MESH:C531614", "MESH:D000652", "MEDDRA:10064100", "NCIT:C84552", "SNOMEDCT:440214006", "SNOMEDCT:765206003", "medgen:66322", "icd11.foundation:1033549095"], "information_content": 95.4}
{"id": "MONDO:0010805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder exstrophy", "equivalent_identifiers": ["MONDO:0010805", "DOID:0080174", "orphanet:93930", "UMLS:C0005689", "MESH:D001746", "MEDDRA:10010453", "MEDDRA:10014151", "MEDDRA:10015720", "MEDDRA:10048597", "NCIT:C123207", "SNOMEDCT:61758007", "medgen:2661", "icd11.foundation:1927556258", "ICD10:Q64.10", "ICD9:753.5", "HP:0002836"], "information_content": 95.4}
{"id": "MONDO:0012510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 2", "equivalent_identifiers": ["MONDO:0012510", "DOID:0111483", "OMIM:610498", "orphanet:254920", "UMLS:C1864843", "MESH:C566468", "SNOMEDCT:764943000", "medgen:400626"], "information_content": 100.0}
{"id": "MONDO:0049221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 26, X-linked, female-limited", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0049221", "OMIM:301010", "UMLS:C4538795", "medgen:1618364"], "information_content": 100.0}
{"id": "MONDO:0008905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "predisposition to invasive fungal disease due to CARD9 deficiency", "equivalent_identifiers": ["MONDO:0008905", "OMIM:212050", "orphanet:457088", "UMLS:C1859353", "MESH:C537979", "MEDDRA:10083959", "SNOMEDCT:1186719000", "medgen:347128"], "information_content": 100.0}
{"id": "MONDO:0001867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phaeohyphomycosis", "equivalent_identifiers": ["MONDO:0001867", "DOID:14049", "UMLS:C0276721", "MESH:D060446", "MEDDRA:10021807", "MEDDRA:10034799", "MEDDRA:10080481", "MEDDRA:10080815", "SNOMEDCT:47158003", "medgen:452374", "icd11.foundation:547567937", "HP:6000031"], "information_content": 100.0}
{"id": "HP:0032259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic tinea infection", "equivalent_identifiers": ["HP:0032259", "UMLS:C5139226"], "information_content": 100.0}
{"id": "MONDO:0021660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deep seated dermatophytosis", "equivalent_identifiers": ["MONDO:0021660", "orphanet:397587", "UMLS:C1395264", "MEDDRA:10012095", "MEDDRA:10053419", "NCIT:C35073", "SNOMEDCT:266152000", "medgen:235599", "HP:0032515"], "information_content": 100.0}
{"id": "HP:0040303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating iron concentration", "equivalent_identifiers": ["HP:0040303", "UMLS:C0235988", "MEDDRA:10022986", "MEDDRA:10040309", "SNOMEDCT:165623008"], "information_content": 100.0}
{"id": "HP:0031392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal CD4+ T cell subset proportion", "equivalent_identifiers": ["HP:0031392", "UMLS:C4531156"], "information_content": 80.6}
{"id": "HP:0031393", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal CD8+ T cell proportion", "equivalent_identifiers": ["HP:0031393", "UMLS:C4531155"], "information_content": 80.2}
{"id": "MONDO:0011929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1p36 deletion syndrome", "equivalent_identifiers": ["MONDO:0011929", "DOID:0060410", "OMIM:607872", "orphanet:1606", "UMLS:C1842870", "MESH:C535362", "MEDDRA:10082398", "NCIT:C74983", "SNOMEDCT:699306003", "medgen:334629"], "information_content": 100.0}
{"id": "MONDO:0033534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 46", "equivalent_identifiers": ["MONDO:0033534", "DOID:0112115", "OMIM:618952", "UMLS:C5436466", "medgen:1752252"], "information_content": 100.0}
{"id": "MONDO:0008999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cohen syndrome", "equivalent_identifiers": ["MONDO:0008999", "DOID:0111590", "OMIM:216550", "orphanet:193", "UMLS:C0265223", "MESH:C536438", "MEDDRA:10049066", "SNOMEDCT:56604005", "medgen:78539", "icd11.foundation:1188737383"], "information_content": 100.0}
{"id": "HP:0008915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Childhood-onset truncal obesity", "equivalent_identifiers": ["HP:0008915", "UMLS:C1859846"], "information_content": 100.0}
{"id": "MONDO:0009365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrolethalus syndrome 1", "equivalent_identifiers": ["MONDO:0009365", "DOID:0111355", "OMIM:236680", "UMLS:C1856016", "MESH:C565504", "medgen:343455"], "information_content": 100.0}
{"id": "HP:0000142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vagina morphology", "equivalent_identifiers": ["HP:0000142", "UMLS:C1856023"], "information_content": 71.8}
{"id": "HP:0004122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline defect of the nose", "equivalent_identifiers": ["HP:0004122", "UMLS:C4025411", "UMLS:C4280539"], "information_content": 90.9}
{"id": "HP:0006379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal tibial hypoplasia", "equivalent_identifiers": ["HP:0006379", "UMLS:C1856029"], "information_content": 100.0}
{"id": "HP:0008216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal gland dysgenesis", "equivalent_identifiers": ["HP:0008216", "UMLS:C1856017"], "information_content": 92.8}
{"id": "HP:0009752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft in skull base", "equivalent_identifiers": ["HP:0009752", "UMLS:C1856027"], "information_content": 100.0}
{"id": "HP:0006882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe hydrocephalus", "equivalent_identifiers": ["HP:0006882", "UMLS:C3278123"], "information_content": 100.0}
{"id": "HP:0008986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of the diaphragm", "equivalent_identifiers": ["HP:0008986", "UMLS:C0221360", "MEDDRA:10012705", "MEDDRA:10012711", "SNOMEDCT:1003568005", "SNOMEDCT:702613006", "SNOMEDCT:72424001"], "information_content": 95.4}
{"id": "MONDO:0013434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 14", "equivalent_identifiers": ["MONDO:0013434", "DOID:0110598", "OMIM:613807", "UMLS:C3151136", "NCIT:C148370", "medgen:462486"], "information_content": 100.0}
{"id": "HP:0012257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent inner dynein arms", "equivalent_identifiers": ["HP:0012257", "UMLS:C4022988"], "information_content": 95.4}
{"id": "HP:0012258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal axonemal organization of respiratory motile cilia", "equivalent_identifiers": ["HP:0012258", "UMLS:C4022987"], "information_content": 100.0}
{"id": "MONDO:0007108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal canal carcinoma", "equivalent_identifiers": ["MONDO:0007108", "DOID:6126", "OMIM:105580", "orphanet:424013", "UMLS:C0563211", "NCIT:C7489", "SNOMEDCT:285310000", "medgen:107559"], "information_content": 76.4}
{"id": "HP:0006763", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anal canal squamous carcinoma", "equivalent_identifiers": ["HP:0006763", "UMLS:C4024982"], "information_content": 100.0}
{"id": "MONDO:0859179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum", "equivalent_identifiers": ["MONDO:0859179", "DOID:0070469", "OMIM:619480", "UMLS:C5551361", "medgen:1790413"], "information_content": 100.0}
{"id": "MONDO:0018805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bile duct cyst", "equivalent_identifiers": ["MONDO:0018805", "DOID:899", "OMIM:603003", "orphanet:480501", "UMLS:C0008340", "UMLS:C1257797", "MESH:D015529", "MEDDRA:10008625", "NCIT:C2943", "SNOMEDCT:1204346009", "SNOMEDCT:1204371007", "SNOMEDCT:397868007", "SNOMEDCT:398197009", "SNOMEDCT:440471007", "medgen:3037", "icd11.foundation:819487805", "ICD10:Q44.4", "HP:0100890"], "information_content": 100.0}
{"id": "MONDO:0859357", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIz", "equivalent_identifiers": ["MONDO:0859357", "DOID:0051053", "OMIM:620201", "UMLS:C5774295", "medgen:1824068"], "information_content": 100.0}
{"id": "HP:0100275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse cerebellar atrophy", "equivalent_identifiers": ["HP:0100275", "UMLS:C1854699"], "information_content": 95.4}
{"id": "MONDO:0010329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 77", "equivalent_identifiers": ["MONDO:0010329", "DOID:0112039", "OMIM:300454", "UMLS:C1845499", "MESH:C564511", "medgen:335199"], "information_content": 100.0}
{"id": "MONDO:0012773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hunter-Macdonald syndrome", "equivalent_identifiers": ["MONDO:0012773", "OMIM:611962", "UMLS:C2677745", "MESH:C567445", "medgen:383181"], "information_content": 100.0}
{"id": "HP:0003088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature osteoarthritis", "equivalent_identifiers": ["HP:0003088", "UMLS:C1835121"], "information_content": 100.0}
{"id": "MONDO:0007370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coracoclavicular joint, anomalous", "equivalent_identifiers": ["MONDO:0007370", "OMIM:121350", "UMLS:C1852561", "MESH:C565161", "medgen:377706"], "information_content": 100.0}
{"id": "MONDO:0032820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies", "equivalent_identifiers": ["MONDO:0032820", "OMIM:618577", "orphanet:659609", "EFO:0010563", "UMLS:C5231416", "medgen:1684725"], "information_content": 100.0}
{"id": "HP:0011320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilambdoid synostosis", "equivalent_identifiers": ["HP:0011320", "UMLS:C4021162"], "information_content": 92.8}
{"id": "MONDO:0054725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 21", "equivalent_identifiers": ["MONDO:0054725", "DOID:0070163", "OMIM:617644", "UMLS:C4539991", "medgen:1617056"], "information_content": 100.0}
{"id": "MONDO:0007686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gray platelet syndrome", "equivalent_identifiers": ["MONDO:0007686", "DOID:0111044", "OMIM:139090", "orphanet:721", "UMLS:C0272302", "MESH:D055652", "NCIT:C84741", "SNOMEDCT:51720005", "medgen:82900", "icd11.foundation:1818085572", "ICD10:D69.1"], "information_content": 100.0}
{"id": "HP:0012528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal number of alpha granules", "equivalent_identifiers": ["HP:0012528", "UMLS:C4022862"], "information_content": 92.8}
{"id": "HP:0012147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced quantity of Von Willebrand factor", "equivalent_identifiers": ["HP:0012147", "UMLS:C1841816", "UMLS:C4023022"], "information_content": 100.0}
{"id": "HP:0011872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired thrombin-induced platelet aggregation", "equivalent_identifiers": ["HP:0011872", "UMLS:C4023153"], "information_content": 100.0}
{"id": "MONDO:0007124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "equivalent_identifiers": ["MONDO:0007124", "DOID:0090119", "OMIM:106260", "orphanet:1071", "UMLS:C0406709", "MESH:C535847", "MEDDRA:10080940", "MEDDRA:10083875", "MEDDRA:10083887", "NCIT:C157576", "SNOMEDCT:55821006", "medgen:98032"], "information_content": 95.4}
{"id": "HP:0031088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal dryness", "equivalent_identifiers": ["HP:0031088", "NCIT:C78699", "UMLS:C0241633", "MEDDRA:10013796", "MEDDRA:10046904", "SNOMEDCT:31908003"], "information_content": 100.0}
{"id": "MONDO:0012690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 5", "equivalent_identifiers": ["MONDO:0012690", "DOID:0060583", "OMIM:611553", "UMLS:C1969057", "MESH:C548083", "NCIT:C176933", "medgen:370589"], "information_content": 100.0}
{"id": "MONDO:0014327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, nonepidermolytic, focal or diffuse", "equivalent_identifiers": ["MONDO:0014327", "DOID:0111710", "OMIM:615735", "orphanet:402003", "UMLS:C3810394", "medgen:816724"], "information_content": 100.0}
{"id": "MONDO:0007720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hernia, double inguinal", "equivalent_identifiers": ["MONDO:0007720", "OMIM:142350", "UMLS:C0860251", "MESH:C563164", "MEDDRA:10013610", "medgen:163567"], "information_content": 100.0}
{"id": "MONDO:0014319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypodysplasia/aplasia 2", "equivalent_identifiers": ["MONDO:0014319", "OMIM:615721", "UMLS:C3810359", "medgen:816689"], "information_content": 100.0}
{"id": "MONDO:0008679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilms tumor 1", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0008679", "OMIM:194070"], "information_content": 100.0}
{"id": "MONDO:0032600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Snijders Blok-Campeau syndrome", "equivalent_identifiers": ["MONDO:0032600", "OMIM:618205", "orphanet:599082", "EFO:0010643", "UMLS:C4748701", "MESH:C000729467", "SNOMEDCT:1179408008", "medgen:1648495", "medgen:C4748701"], "information_content": 100.0}
{"id": "HP:0012766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened cerebral subarachnoid space", "equivalent_identifiers": ["HP:0012766", "UMLS:C4022733"], "information_content": 100.0}
{"id": "MONDO:0014543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 14", "equivalent_identifiers": ["MONDO:0014543", "DOID:0110669", "OMIM:616228", "UMLS:C4015597", "medgen:864034"], "information_content": 100.0}
{"id": "HP:0100301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber tubular inclusions", "equivalent_identifiers": ["HP:0100301", "UMLS:C4021024"], "information_content": 100.0}
{"id": "MONDO:0012248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "equivalent_identifiers": ["MONDO:0012248", "DOID:0110297", "OMIM:609308", "orphanet:86812", "EFO:0009145", "UMLS:C1836373", "NCIT:C133730", "SNOMEDCT:720523006", "medgen:332193"], "information_content": 100.0}
{"id": "MONDO:0012637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012637", "DOID:0070259", "OMIM:611209", "orphanet:263508", "UMLS:C2931011", "MESH:C535756", "SNOMEDCT:718750004", "medgen:443957"], "information_content": 100.0}
{"id": "MONDO:0012276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy-paroxysmal dyskinesia syndrome", "equivalent_identifiers": ["MONDO:0012276", "DOID:0070442", "OMIM:609446", "orphanet:79137", "UMLS:C1836173", "UMLS:C5574945", "MESH:C563719", "SNOMEDCT:715629001", "medgen:1801137"], "information_content": 100.0}
{"id": "MONDO:0014694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis 6, autosomal recessive", "equivalent_identifiers": ["MONDO:0014694", "DOID:0112360", "OMIM:616566", "UMLS:C4225279", "medgen:899713"], "information_content": 100.0}
{"id": "MONDO:0012165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BNAR syndrome", "equivalent_identifiers": ["MONDO:0012165", "OMIM:608980", "orphanet:217266", "UMLS:C2750433", "MESH:C567672", "SNOMEDCT:717940006", "medgen:413305"], "information_content": 100.0}
{"id": "MONDO:0012112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 10", "equivalent_identifiers": ["MONDO:0012112", "DOID:0110316", "OMIM:608758", "UMLS:C1834460", "MESH:C563865", "medgen:331754"], "information_content": 100.0}
{"id": "HP:0031656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Systolic anterior motion of the mitral valve", "equivalent_identifiers": ["HP:0031656", "UMLS:C4049276", "MEDDRA:10076976"], "information_content": 100.0}
{"id": "MONDO:0014314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "equivalent_identifiers": ["MONDO:0014314", "OMIM:615709", "orphanet:397927", "UMLS:C3810343", "medgen:816673"], "information_content": 100.0}
{"id": "HP:0012621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent cloaca", "equivalent_identifiers": ["HP:0012621", "NCIT:C99014", "UMLS:C0266225", "MEDDRA:10069442", "SNOMEDCT:74829002"], "information_content": 100.0}
{"id": "MONDO:0013741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 5", "equivalent_identifiers": ["MONDO:0013741", "DOID:0060752", "OMIM:614417", "UMLS:C3280730", "medgen:482360"], "information_content": 100.0}
{"id": "MONDO:0009959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder type 3B", "equivalent_identifiers": ["MONDO:0009959", "DOID:0081241", "OMIM:266510", "UMLS:C3550693", "NCIT:C155753", "medgen:763607"], "information_content": 100.0}
{"id": "HP:6000396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF guanidinoacetic acid concentration", "equivalent_identifiers": ["HP:6000396", "UMLS:C5937182"], "information_content": 100.0}
{"id": "HP:6000393", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine trihydroxycholestanoic acid level", "equivalent_identifiers": ["HP:6000393", "UMLS:C5937179"], "information_content": 100.0}
{"id": "DOID:0050465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muir-Torre syndrome", "equivalent_identifiers": ["DOID:0050465", "OMIM:158320", "UMLS:C1321489", "MESH:D055653", "MEDDRA:10063042", "NCIT:C84905", "SNOMEDCT:403824007"], "information_content": 100.0}
{"id": "HP:0006758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malignant genitourinary tract tumor", "equivalent_identifiers": ["HP:0006758", "UMLS:C1834728"], "information_content": 100.0}
{"id": "MONDO:0006962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sebaceous adenocarcinoma", "equivalent_identifiers": ["MONDO:0006962", "DOID:4839", "DOID:4840", "EFO:1001171", "UMLS:C0206684", "MESH:D018266", "MEDDRA:10068784", "NCIT:C40310", "SNOMEDCT:307599002", "SNOMEDCT:54734006", "medgen:64632", "HP:0030410"], "information_content": 82.6}
{"id": "MONDO:0000385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign digestive system neoplasm", "equivalent_identifiers": ["MONDO:0000385", "DOID:0050624", "UMLS:C0497538", "MEDDRA:10004268", "MEDDRA:10017934", "MEDDRA:10017987", "MEDDRA:10018239", "MEDDRA:10060996", "NCIT:C4787", "SNOMEDCT:92118007", "medgen:141680", "HP:0006719"], "information_content": 64.6}
{"id": "MONDO:0002358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal carcinoma", "equivalent_identifiers": ["MONDO:0002358", "DOID:2600", "UMLS:C0595989", "MEDDRA:10007410", "MEDDRA:10007427", "MEDDRA:10023906", "NCIT:C4855", "SNOMEDCT:276975007", "medgen:108889", "HP:0012118"], "information_content": 69.7}
{"id": "HP:0006778", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Benign genitourinary tract neoplasm", "equivalent_identifiers": ["HP:0006778", "UMLS:C3804991", "MEDDRA:10074418"], "information_content": 100.0}
{"id": "MONDO:0024553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, lactic acidosis, and sideroblastic anemia 1", "equivalent_identifiers": ["MONDO:0024553", "DOID:0111185", "OMIM:600462", "UMLS:C4551958", "medgen:1634824"], "information_content": 100.0}
{"id": "OMIM:616200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progeroid features, hepatocellular carcinoma predisposition syndrome", "equivalent_identifiers": ["OMIM:616200", "UMLS:C4015461", "SNOMEDCT:1216939003"]}
{"id": "MONDO:0030885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia", "equivalent_identifiers": ["MONDO:0030885", "DOID:0081380", "OMIM:619133", "UMLS:C5436882", "medgen:1771903"], "information_content": 100.0}
{"id": "MONDO:0032622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 17", "equivalent_identifiers": ["MONDO:0032622", "DOID:0112078", "OMIM:618239", "UMLS:C4748786", "medgen:1648418"], "information_content": 100.0}
{"id": "HP:0012128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basal ganglia necrosis", "equivalent_identifiers": ["HP:0012128", "UMLS:C4023035"], "information_content": 100.0}
{"id": "MONDO:0014535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperproinsulinemia", "equivalent_identifiers": ["MONDO:0014535", "OMIM:616214", "EFO:0009650", "UMLS:C0342283", "MESH:C562776", "SNOMEDCT:237613005", "medgen:137967"], "information_content": 100.0}
{"id": "MONDO:0030880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibuloacral dysplasia progeroid syndrome", "equivalent_identifiers": ["MONDO:0030880", "OMIM:619127", "orphanet:647667", "UMLS:C5436867", "medgen:1741713"], "information_content": 100.0}
{"id": "HP:0010284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigmented gums", "equivalent_identifiers": ["HP:0010284", "UMLS:C0399483", "UMLS:C0877541", "UMLS:C4280387", "UMLS:C4280388", "UMLS:C4280389", "MEDDRA:10049580", "SNOMEDCT:235038002"], "information_content": 100.0}
{"id": "MONDO:0009394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile Paget disease", "equivalent_identifiers": ["MONDO:0009394", "DOID:0081368", "OMIM:239000", "orphanet:2801", "UMLS:C0268414", "MESH:C537701", "MEDDRA:10078977", "NCIT:C131861", "SNOMEDCT:9723006", "medgen:75678", "icd11.foundation:762002965"], "information_content": 100.0}
{"id": "HP:0033355", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urine deoxypyridinoline level", "equivalent_identifiers": ["HP:0033355", "UMLS:C5539536"], "information_content": 100.0}
{"id": "MONDO:0012992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic insufficiency-anemia-hyperostosis syndrome", "equivalent_identifiers": ["MONDO:0012992", "OMIM:612714", "orphanet:199337", "UMLS:C2675184", "MESH:C567195", "SNOMEDCT:722207000", "medgen:436369"], "information_content": 100.0}
{"id": "MONDO:0010035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smith-Lemli-Opitz syndrome", "equivalent_identifiers": ["MONDO:0010035", "DOID:14692", "OMIM:270400", "orphanet:818", "UMLS:C0175694", "MESH:D019082", "MEDDRA:10078573", "NCIT:C85071", "SNOMEDCT:43929004", "medgen:61231", "icd11.foundation:1231469858", "ICD10:E78.72"], "information_content": 100.0}
{"id": "HP:0010569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 7-dehydrocholesterol concentration", "equivalent_identifiers": ["HP:0010569", "UMLS:C1849185"], "information_content": 100.0}
{"id": "HP:0007537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe photosensitivity", "equivalent_identifiers": ["HP:0007537", "UMLS:C1849186"], "information_content": 100.0}
{"id": "MONDO:0012277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 4", "equivalent_identifiers": ["MONDO:0012277", "DOID:0080095", "OMIM:609452", "orphanet:98912", "UMLS:C1836155", "UMLS:C4721886", "MESH:C563718", "SNOMEDCT:770558006", "medgen:1648314"], "information_content": 100.0}
{"id": "HP:0009063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive distal muscle weakness", "equivalent_identifiers": ["HP:0009063", "UMLS:C1836609"], "information_content": 100.0}
{"id": "MONDO:0859208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hengel-Maroofian-Schols syndrome", "equivalent_identifiers": ["MONDO:0859208", "DOID:0070408", "OMIM:619641", "UMLS:C5562032", "medgen:1794242"], "information_content": 100.0}
{"id": "HP:0008366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot joint contracture", "equivalent_identifiers": ["HP:0008366", "UMLS:C0343149", "SNOMEDCT:239742004"], "information_content": 77.3}
{"id": "MONDO:0010400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked scapuloperoneal muscular dystrophy", "equivalent_identifiers": ["MONDO:0010400", "OMIM:300695", "orphanet:431272", "UMLS:C2678061", "MESH:C567481", "medgen:395530"], "information_content": 100.0}
{"id": "MONDO:0000727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scapuloperoneal myopathy", "equivalent_identifiers": ["MONDO:0000727", "DOID:0060253", "UMLS:C2931268", "MESH:C536624", "medgen:419759", "HP:0009054"], "information_content": 92.8}
{"id": "HP:0034394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Forearm supination contracture", "equivalent_identifiers": ["HP:0034394", "UMLS:C0409340"], "information_content": 100.0}
{"id": "MONDO:0011749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 1B", "equivalent_identifiers": ["MONDO:0011749", "DOID:0070095", "OMIM:606952", "orphanet:79434", "UMLS:C1847024", "MESH:C537729", "SNOMEDCT:82342003", "medgen:337712", "icd11.foundation:1233842528"], "information_content": 100.0}
{"id": "MONDO:0009505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lactic aciduria due to D-lactic acid", "equivalent_identifiers": ["MONDO:0009505", "OMIM:245450", "UMLS:C1855552", "UMLS:C5193006", "MESH:C565446", "medgen:1679270"], "information_content": 100.0}
{"id": "HP:6000467", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine D-lactate level", "equivalent_identifiers": ["HP:6000467", "UMLS:C5937236"], "information_content": 100.0}
{"id": "MONDO:0030813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 101 (varicella zoster virus-specific)", "equivalent_identifiers": ["MONDO:0030813", "DOID:0061071", "OMIM:619872", "UMLS:C5676983", "medgen:1810668"], "information_content": 100.0}
{"id": "HP:0005318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral vasculitis", "equivalent_identifiers": ["HP:0005318", "UMLS:C0238051", "MEDDRA:10047119", "SNOMEDCT:427020007"], "information_content": 100.0}
{"id": "HP:0034319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CNS vasculitis with reactivation of varicella-zoster virus", "equivalent_identifiers": ["HP:0034319", "UMLS:C5706165"], "information_content": 100.0}
{"id": "MONDO:0009295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease VII", "equivalent_identifiers": ["MONDO:0009295", "DOID:11721", "OMIM:232800", "orphanet:371", "UMLS:C0017926", "MESH:D006014", "MEDDRA:10053241", "MEDDRA:10053252", "MEDDRA:10053255", "NCIT:C118437", "SNOMEDCT:89597008", "medgen:5342", "ICD10:E74.09"], "information_content": 100.0}
{"id": "HP:6000359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle 6-phosphofructokinase activity", "equivalent_identifiers": ["HP:6000359", "UMLS:C5937153"], "information_content": 100.0}
{"id": "HP:0030271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte 2,3-diphosphoglycerate concentration", "equivalent_identifiers": ["HP:0030271", "UMLS:C4022546"], "information_content": 100.0}
{"id": "MONDO:0007360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiootic syndrome 2", "equivalent_identifiers": ["MONDO:0007360", "OMIM:120502", "UMLS:C1852718", "MESH:C565171", "medgen:377737"], "information_content": 100.0}
{"id": "MONDO:0007359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "commissural lip pits", "equivalent_identifiers": ["MONDO:0007359", "OMIM:120500", "UMLS:C0399605", "UMLS:C1290593", "SNOMEDCT:109550008", "medgen:98001", "HP:0002710"], "information_content": 100.0}
{"id": "MONDO:0008834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asthma, nasal polyps, and aspirin intolerance", "equivalent_identifiers": ["MONDO:0008834", "DOID:0111579", "OMIM:208550", "UMLS:C1858067", "UMLS:C1859648", "MESH:C565739", "MESH:C565935", "medgen:347198"], "information_content": 100.0}
{"id": "HP:0012042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aspirin-induced asthma", "equivalent_identifiers": ["HP:0012042", "UMLS:C1319853", "SNOMEDCT:407674008", "MESH:D055963"], "information_content": 100.0}
{"id": "HP:4000007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bronchoconstriction", "equivalent_identifiers": ["HP:4000007"], "information_content": 100.0}
{"id": "MONDO:0009423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemic alkalosis, familial, with specific renal tubulopathy", "equivalent_identifiers": ["MONDO:0009423", "OMIM:241150", "UMLS:C0268444", "MESH:C562654", "SNOMEDCT:81987005", "medgen:78677"], "information_content": 100.0}
{"id": "HP:0004921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal magnesium concentration", "equivalent_identifiers": ["HP:0004921", "UMLS:C4020826", "UMLS:C4025274"], "information_content": 78.5}
{"id": "MONDO:0011296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 2", "equivalent_identifiers": ["MONDO:0011296", "DOID:0070116", "OMIM:603194", "UMLS:C1864148", "MESH:C536131", "medgen:351059"], "information_content": 100.0}
{"id": "MONDO:0013246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0013246", "OMIM:613387", "UMLS:C3150651", "medgen:462001"], "information_content": 100.0}
{"id": "MONDO:0012700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular acidosis, distal, 4, with hemolytic anemia", "equivalent_identifiers": ["MONDO:0012700", "OMIM:611590", "orphanet:93610", "UMLS:C1969039", "UMLS:C5436235", "MESH:C566911", "NCIT:C198574", "medgen:1771439"], "information_content": 100.0}
{"id": "HP:0030036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Isothenuria", "equivalent_identifiers": ["HP:0030036", "UMLS:C4022665"], "information_content": 100.0}
{"id": "MONDO:0009706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary myopathy with lactic acidosis due to ISCU deficiency", "equivalent_identifiers": ["MONDO:0009706", "OMIM:255125", "orphanet:43115", "UMLS:C1850718", "MESH:C564972", "SNOMEDCT:699268002", "medgen:342573"], "information_content": 100.0}
{"id": "HP:0008306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal iron deposition in mitochondria", "equivalent_identifiers": ["HP:0008306", "UMLS:C3151556"], "information_content": 100.0}
{"id": "MONDO:0012570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency", "equivalent_identifiers": ["MONDO:0012570", "OMIM:610842", "orphanet:91135", "UMLS:C1835813", "UMLS:C4049241", "MESH:C563654", "MEDDRA:10076864", "SNOMEDCT:717941005", "medgen:332067"], "information_content": 100.0}
{"id": "HP:0033027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal peau d'orange", "equivalent_identifiers": ["HP:0033027", "UMLS:C5398025"], "information_content": 100.0}
{"id": "MONDO:0012698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 2E", "equivalent_identifiers": ["MONDO:0012698", "DOID:0110956", "OMIM:611584", "UMLS:C2700405", "medgen:398476"], "information_content": 100.0}
{"id": "HP:0011379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilated vestibule of the inner ear", "equivalent_identifiers": ["HP:0011379", "UMLS:C4023387"], "information_content": 100.0}
{"id": "HP:0011376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the vestibule of the inner ear", "equivalent_identifiers": ["HP:0011376", "UMLS:C0542259", "MEDDRA:10047383"], "information_content": 75.8}
{"id": "HP:0007730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris hypopigmentation", "equivalent_identifiers": ["HP:0007730", "UMLS:C0154920", "MEDDRA:10063694", "SNOMEDCT:247032003", "SNOMEDCT:70397008"], "information_content": 92.8}
{"id": "MONDO:0014039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 11", "equivalent_identifiers": ["MONDO:0014039", "DOID:0080129", "OMIM:615084", "orphanet:352447", "UMLS:C3554462", "medgen:767376"], "information_content": 100.0}
{"id": "HP:0008443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neuropathic spinal arthropathy", "equivalent_identifiers": ["HP:0008443", "NCIT:C99064", "UMLS:C0575157", "UMLS:C5702564", "MEDDRA:10012144", "MEDDRA:10058907", "SNOMEDCT:298380006"], "information_content": 84.2}
{"id": "MONDO:0013047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency", "equivalent_identifiers": ["MONDO:0013047", "OMIM:612933", "orphanet:284426", "UMLS:C2931743", "MESH:C538133", "SNOMEDCT:237982007", "medgen:419152"], "information_content": 100.0}
{"id": "MONDO:0020733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal symphalangism 1A", "equivalent_identifiers": ["MONDO:0020733", "DOID:0080787", "OMIM:185800", "UMLS:C3714899", "medgen:811492"], "information_content": 100.0}
{"id": "MONDO:0008259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial spontaneous pneumothorax", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0008259", "DOID:0080218", "OMIM:173600", "orphanet:2903", "UMLS:C1868193", "UMLS:C4275252", "MESH:C566795", "MEDDRA:10073762", "SNOMEDCT:328561000119107", "SNOMEDCT:715219001", "medgen:357445", "icd11.foundation:319022944"], "information_content": 100.0}
{"id": "MONDO:0010767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AZF REGIONS", "inheritance": "Y-linked inheritance", "equivalent_identifiers": ["MONDO:0010767", "DOID:0070187", "OMIM:415000", "UMLS:C1839071", "UMLS:C1839072", "MESH:C564030", "NCIT:C185244", "medgen:326394"], "information_content": 100.0}
{"id": "MONDO:0010646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy, X-linked", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0010646", "OMIM:309100", "UMLS:C1839842", "MESH:C564110", "medgen:374323"], "information_content": 100.0}
{"id": "MONDO:0029465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 69", "equivalent_identifiers": ["MONDO:0029465", "DOID:0061042", "OMIM:617863", "UMLS:C5676896", "medgen:1808299"], "information_content": 100.0}
{"id": "MONDO:0030522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 64", "equivalent_identifiers": ["MONDO:0030522", "DOID:0112353", "OMIM:619696", "UMLS:C5562062", "medgen:1794272"], "information_content": 100.0}
{"id": "MONDO:0958329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jeffries-Lakhani neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0958329", "OMIM:620771", "UMLS:C5935596", "medgen:1854360"], "information_content": 100.0}
{"id": "HP:0012466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic respiratory acidosis", "equivalent_identifiers": ["HP:0012466", "UMLS:C0268048", "SNOMEDCT:8764008"], "information_content": 100.0}
{"id": "HP:0031728", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild hypermetropia", "equivalent_identifiers": ["HP:0031728", "UMLS:C4703503"], "information_content": 100.0}
{"id": "MONDO:0007433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dementia/parkinsonism with non-Alzheimer amyloid plaques", "equivalent_identifiers": ["MONDO:0007433", "OMIM:125320", "UMLS:C1852223", "MESH:C565115", "medgen:338883"], "information_content": 100.0}
{"id": "MONDO:0008845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atonic-astatic syndrome of Foerster", "equivalent_identifiers": ["MONDO:0008845", "OMIM:209100", "UMLS:C1859594", "MESH:C565926", "medgen:395300"], "information_content": 100.0}
{"id": "HP:0012651", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abasia", "equivalent_identifiers": ["HP:0012651", "UMLS:C0877217", "MEDDRA:10049460", "MEDDRA:10049461"], "information_content": 100.0}
{"id": "MONDO:0010784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chloramphenicol toxicity", "equivalent_identifiers": ["MONDO:0010784", "OMIM:515000", "UMLS:C0008170", "UMLS:C0274502", "UMLS:C1838989", "MESH:D002702", "SNOMEDCT:42894006", "medgen:374104"], "information_content": 100.0}
{"id": "MONDO:0100297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1", "equivalent_identifiers": ["MONDO:0100297", "DOID:0060989", "OMIM:617877", "UMLS:C5542952", "medgen:1778119"], "information_content": 100.0}
{"id": "MONDO:0012161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "susceptibility to respiratory infections associated with CD8alpha chain mutation", "equivalent_identifiers": ["MONDO:0012161", "DOID:0061082", "OMIM:608957", "orphanet:169085", "UMLS:C1837065", "MESH:C563824", "SNOMEDCT:766983005", "medgen:323058"], "information_content": 100.0}
{"id": "HP:0005422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of CD8-positive T cells", "equivalent_identifiers": ["HP:0005422", "UMLS:C4025197"], "information_content": 95.4}
{"id": "OMIM:240500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 2", "equivalent_identifiers": ["OMIM:240500", "UMLS:C3150354"]}
{"id": "HP:0410301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of specific antibody response to unconjugated pneumococcus vaccine", "equivalent_identifiers": ["HP:0410301", "UMLS:C5139464"], "information_content": 100.0}
{"id": "MONDO:0007750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercholesterolemia, familial, 1", "equivalent_identifiers": ["MONDO:0007750", "OMIM:143890", "UMLS:C0745103", "UMLS:C3276941", "MEDDRA:10017342", "MEDDRA:10017343", "MEDDRA:10017344", "MEDDRA:10045261", "MEDDRA:10045262", "MEDDRA:10060595", "MEDDRA:10060596", "MEDDRA:10060597", "MEDDRA:10064614", "MEDDRA:10064707", "NCIT:C123416", "SNOMEDCT:397915002", "SNOMEDCT:398036000", "medgen:152875"], "information_content": 100.0}
{"id": "MONDO:0014055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 4", "equivalent_identifiers": ["MONDO:0014055", "DOID:0111693", "OMIM:615127", "UMLS:C3554560", "medgen:767474"], "information_content": 100.0}
{"id": "MONDO:0008561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thumb deformity", "equivalent_identifiers": ["MONDO:0008561", "OMIM:188100", "UMLS:C0575897", "MESH:C536903", "SNOMEDCT:299130003", "medgen:107901", "HP:0001172"], "information_content": 68.0}
{"id": "MONDO:0011852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic congenital nail disorder 8", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0011852", "DOID:0080086", "OMIM:607523", "UMLS:C1843761", "MESH:C564384", "medgen:375277"], "information_content": 100.0}
{"id": "MONDO:0033008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 4", "equivalent_identifiers": ["MONDO:0033008", "DOID:0080246", "OMIM:617730", "UMLS:C4540270", "medgen:1613511"], "information_content": 100.0}
{"id": "MONDO:0011002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary motor and sensory, type 6A", "equivalent_identifiers": ["MONDO:0011002", "OMIM:601152"], "information_content": 100.0}
{"id": "HP:0008587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild neurosensory hearing impairment", "equivalent_identifiers": ["HP:0008587", "UMLS:C4021538"], "information_content": 100.0}
{"id": "MONDO:0009331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated hemihyperplasia", "equivalent_identifiers": ["MONDO:0009331", "OMIM:235000", "orphanet:2128", "UMLS:C1856184", "MESH:C565524", "medgen:383853"], "information_content": 100.0}
{"id": "MONDO:0005564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "embryonal neoplasm", "equivalent_identifiers": ["MONDO:0005564", "DOID:688", "EFO:0005784", "UMLS:C0027654", "NCIT:C3264", "medgen:45034", "HP:0002898"], "information_content": 58.7}
{"id": "MONDO:0010482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked parkinsonism-spasticity syndrome", "equivalent_identifiers": ["MONDO:0010482", "DOID:0112105", "OMIM:300911", "orphanet:363654", "UMLS:C3806722", "SNOMEDCT:770757004", "medgen:813052"], "information_content": 100.0}
{"id": "MONDO:0011120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neural tube defects, folate-sensitive", "equivalent_identifiers": ["MONDO:0011120", "OMIM:601634", "UMLS:C1866558", "UMLS:C1866559", "MESH:C536409", "MESH:C566648", "medgen:355746"], "information_content": 100.0}
{"id": "HP:0010301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal dysraphism", "equivalent_identifiers": ["HP:0010301", "UMLS:C0344479", "MEDDRA:10091220", "SNOMEDCT:253124001"], "information_content": 87.2}
{"id": "MONDO:0009894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 6 with or without polydactyly", "equivalent_identifiers": ["MONDO:0009894", "DOID:0110092", "OMIM:263520", "UMLS:C0024507", "NCIT:C122654", "medgen:44252"], "information_content": 100.0}
{"id": "HP:0005873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polysyndactyly of hallux", "equivalent_identifiers": ["HP:0005873", "UMLS:C4021618"], "information_content": 100.0}
{"id": "HP:0005766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disproportionate shortening of the tibia", "equivalent_identifiers": ["HP:0005766", "UMLS:C3806516"], "information_content": 100.0}
{"id": "HP:0005817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postaxial polysyndactyly of foot", "equivalent_identifiers": ["HP:0005817", "UMLS:C4021824"], "information_content": 100.0}
{"id": "MONDO:0014891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperuricemic nephropathy, familial juvenile type 4", "equivalent_identifiers": ["MONDO:0014891", "DOID:0061120", "OMIM:617056", "UMLS:C4310741", "medgen:934708"], "information_content": 100.0}
{"id": "HP:0020132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickening of the tubular basement membrane", "equivalent_identifiers": ["HP:0020132", "UMLS:C1855682"], "information_content": 100.0}
{"id": "HP:0032218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased proportion of CD4-positive T cells", "equivalent_identifiers": ["HP:0032218", "UMLS:C5139203"], "information_content": 89.4}
{"id": "HP:0004732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired renal uric acid clearance", "equivalent_identifiers": ["HP:0004732", "UMLS:C1969371"], "information_content": 100.0}
{"id": "HP:0034886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary uromodulin level", "equivalent_identifiers": ["HP:0034886", "UMLS:C5826736"], "information_content": 100.0}
{"id": "MONDO:0013186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 6", "equivalent_identifiers": ["MONDO:0013186", "DOID:0060584", "OMIM:613224", "UMLS:C2750732", "MESH:C548084", "NCIT:C176934", "medgen:413028"], "information_content": 100.0}
{"id": "MONDO:0007971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "delayed membranous cranial ossification", "equivalent_identifiers": ["MONDO:0007971", "OMIM:155980", "orphanet:3034", "UMLS:C1835030", "MESH:C563592", "SNOMEDCT:715524004", "medgen:320502", "icd11.foundation:766852360"], "information_content": 100.0}
{"id": "MONDO:0008519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple synostoses syndrome 1", "equivalent_identifiers": ["MONDO:0008519", "DOID:0081317", "OMIM:186500", "UMLS:C0342282", "UMLS:C4551826", "medgen:90977"], "information_content": 100.0}
{"id": "HP:0008607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive conductive hearing impairment", "equivalent_identifiers": ["HP:0008607", "UMLS:C1861325"], "information_content": 100.0}
{"id": "HP:0009941", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetry of the mouth", "equivalent_identifiers": ["HP:0009941", "UMLS:C4024153"], "information_content": 100.0}
{"id": "HP:0009773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism affecting the phalanges of the hand", "equivalent_identifiers": ["HP:0009773", "UMLS:C4021390"], "information_content": 76.9}
{"id": "HP:0100394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short middle phalanx of the 5th toe", "equivalent_identifiers": ["HP:0100394", "UMLS:C4021003"], "information_content": 100.0}
{"id": "HP:0100482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal/middle symphalangism of 5th toe", "equivalent_identifiers": ["HP:0100482", "UMLS:C4020973"], "information_content": 100.0}
{"id": "HP:0100481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal/middle symphalangism of 4th toe", "equivalent_identifiers": ["HP:0100481", "UMLS:C4020974"], "information_content": 100.0}
{"id": "HP:0008460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic spinal processes", "equivalent_identifiers": ["HP:0008460", "UMLS:C4024674"], "information_content": 100.0}
{"id": "HP:0009477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal/middle symphalangism of 4th finger", "equivalent_identifiers": ["HP:0009477", "UMLS:C4024342"], "information_content": 100.0}
{"id": "MONDO:0970994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 120", "equivalent_identifiers": ["MONDO:0970994", "DOID:0061086", "OMIM:620836", "UMLS:C5935622", "medgen:1862745"], "information_content": 100.0}
{"id": "MONDO:0032707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "turnpenny-fry syndrome", "equivalent_identifiers": ["MONDO:0032707", "OMIM:618371", "orphanet:688642", "UMLS:C5193060", "medgen:1683283"], "information_content": 100.0}
{"id": "MONDO:0007126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloarthropathy, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0007126", "DOID:0080603", "OMIM:106300", "UMLS:C1862852", "medgen:400145"], "information_content": 100.0}
{"id": "MONDO:0007156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacroiliitis", "equivalent_identifiers": ["MONDO:0007156", "OMIM:108100", "UMLS:C0574960", "UMLS:C0748473", "MESH:C563037", "MESH:D058566", "MEDDRA:10039361", "SNOMEDCT:55146009", "medgen:148186", "HP:0012317"], "information_content": 100.0}
{"id": "MONDO:0006651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior uveitis", "equivalent_identifiers": ["MONDO:0006651", "DOID:1407", "orphanet:280886", "EFO:1000811", "UMLS:C0042165", "UMLS:C0701807", "MESH:D014606", "MEDDRA:10002709", "MEDDRA:10046852", "NCIT:C119989", "NCIT:C35109", "SNOMEDCT:410692006", "SNOMEDCT:4927003", "medgen:22595", "icd11.foundation:908233081", "HP:0012122"], "information_content": 83.1}
{"id": "MONDO:0024419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enthesitis", "equivalent_identifiers": ["MONDO:0024419", "UMLS:C1282952", "MEDDRA:10058497", "NCIT:C114470", "SNOMEDCT:359643005", "medgen:451081", "HP:0100686"], "information_content": 95.4}
{"id": "MONDO:0010479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked dominant 6", "equivalent_identifiers": ["MONDO:0010479", "DOID:0110207", "OMIM:300905", "orphanet:352675", "UMLS:C3806702", "SNOMEDCT:763347000", "medgen:813032"], "information_content": 100.0}
{"id": "MONDO:0030607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 2", "equivalent_identifiers": ["MONDO:0030607", "OMIM:619721", "UMLS:C5676906", "medgen:1811435"], "information_content": 100.0}
{"id": "HP:0008467", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic hemivertebrae", "equivalent_identifiers": ["HP:0008467", "UMLS:C0432152", "UMLS:C4020799", "SNOMEDCT:95304000"], "information_content": 100.0}
{"id": "MONDO:0012984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PHARC syndrome", "equivalent_identifiers": ["MONDO:0012984", "DOID:0080181", "OMIM:612674", "orphanet:171848", "UMLS:C2675204", "UMLS:C4509920", "MESH:C567203", "SNOMEDCT:723452007", "medgen:436373"], "information_content": 100.0}
{"id": "HP:0000523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcapsular cataract", "equivalent_identifiers": ["HP:0000523", "UMLS:C0235259", "MEDDRA:10007764", "MEDDRA:10042330", "SNOMEDCT:95723009"], "information_content": 88.2}
{"id": "MONDO:0013627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3M syndrome 3", "equivalent_identifiers": ["MONDO:0013627", "OMIM:614205", "UMLS:C3280146", "medgen:481776"], "information_content": 100.0}
{"id": "MONDO:0013805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 13", "equivalent_identifiers": ["MONDO:0013805", "DOID:0061144", "DOID:0070043", "OMIM:614563", "UMLS:C3281202", "medgen:482832"], "information_content": 100.0}
{"id": "MONDO:0012225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome 5", "equivalent_identifiers": ["MONDO:0012225", "OMIM:609254", "UMLS:C1836517", "MESH:C563763", "medgen:332226"], "information_content": 100.0}
{"id": "MONDO:0011115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia and Evans syndrome", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0011115", "OMIM:601608", "UMLS:C1866619", "MESH:C566652", "medgen:355764"], "information_content": 100.0}
{"id": "MONDO:0033639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 10", "equivalent_identifiers": ["MONDO:0033639", "DOID:0070496", "OMIM:619053", "UMLS:C5436692", "medgen:1746545"], "information_content": 100.0}
{"id": "MONDO:0009479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Johanson-Blizzard syndrome", "equivalent_identifiers": ["MONDO:0009479", "DOID:14694", "OMIM:243800", "orphanet:2315", "UMLS:C0175692", "UMLS:C1850081", "MESH:C535880", "MESH:C564907", "MEDDRA:10074947", "SNOMEDCT:75979009", "medgen:59798", "icd11.foundation:1427330812"], "information_content": 100.0}
{"id": "HP:0005498", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline skin dimples over anterior/posterior fontanelles", "equivalent_identifiers": ["HP:0005498", "UMLS:C1855690"], "information_content": 100.0}
{"id": "HP:0000832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primary hypothyroidism", "equivalent_identifiers": ["HP:0000832", "NCIT:C113143", "NCIT:C129644", "UMLS:C0700502", "UMLS:C4316995", "MEDDRA:10000559", "MEDDRA:10036697", "SNOMEDCT:111566002", "SNOMEDCT:57185003"], "information_content": 95.4}
{"id": "HP:0008716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethrovaginal fistula", "equivalent_identifiers": ["HP:0008716", "UMLS:C0269133", "MEDDRA:10090788", "SNOMEDCT:50477003"], "information_content": 100.0}
{"id": "HP:0032106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scleral Icterus", "equivalent_identifiers": ["HP:0032106", "NCIT:C122411", "UMLS:C0240962", "MEDDRA:10057369", "MEDDRA:10057488", "SNOMEDCT:246975001"], "information_content": 100.0}
{"id": "MONDO:0958177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic recurrent multifocal osteomyelitis 3", "equivalent_identifiers": ["MONDO:0958177", "OMIM:259680"], "information_content": 100.0}
{"id": "MONDO:0015597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pustulosis palmaris et plantaris", "equivalent_identifiers": ["MONDO:0015597", "DOID:4398", "orphanet:163927", "UMLS:C0030246", "UMLS:C0263365", "MEDDRA:10050185", "NCIT:C34888", "SNOMEDCT:27520001", "SNOMEDCT:81271001", "medgen:45290", "icd11.foundation:877172115", "ICD10:L40.3", "HP:0100847"], "information_content": 100.0}
{"id": "MONDO:0011229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ethylmalonic encephalopathy", "equivalent_identifiers": ["MONDO:0011229", "DOID:0060640", "OMIM:602473", "orphanet:51188", "UMLS:C1865349", "MESH:C535737", "SNOMEDCT:723307008", "medgen:355966", "icd11.foundation:1966714550"], "information_content": 100.0}
{"id": "HP:0033446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating butyrylcarnitine concentration", "equivalent_identifiers": ["HP:0033446", "UMLS:C5539599"], "information_content": 100.0}
{"id": "HP:6000757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating thiosulfate concentration", "equivalent_identifiers": ["HP:6000757", "UMLS:C5937485"], "information_content": 100.0}
{"id": "HP:0008046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal retinal vascular morphology", "equivalent_identifiers": ["HP:0008046", "UMLS:C4024753"], "information_content": 73.4}
{"id": "MONDO:0013632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 33", "equivalent_identifiers": ["MONDO:0013632", "DOID:0110562", "OMIM:614211", "UMLS:C3887930", "medgen:854638"], "information_content": 100.0}
{"id": "MONDO:0012082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asperger syndrome, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0012082", "OMIM:608638", "UMLS:C1837646", "medgen:325218"], "information_content": 100.0}
{"id": "HP:0000753", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autism with high cognitive abilities", "equivalent_identifiers": ["HP:0000753", "UMLS:C4025832"], "information_content": 100.0}
{"id": "MONDO:0060583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease", "equivalent_identifiers": ["MONDO:0060583", "DOID:0112004", "OMIM:617718", "UMLS:C4540232", "medgen:1618052"], "information_content": 100.0}
{"id": "HP:0011896", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subconjunctival hemorrhage", "equivalent_identifiers": ["HP:0011896", "NCIT:C35045", "UMLS:C0038534", "MEDDRA:10042341", "MEDDRA:10055345", "SNOMEDCT:78768009"], "information_content": 100.0}
{"id": "MONDO:0018439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic colitis", "equivalent_identifiers": ["MONDO:0018439", "orphanet:402035", "UMLS:C0267448", "MEDDRA:10057271", "NCIT:C27053", "SNOMEDCT:29120000", "medgen:75633", "icd11.foundation:1169803773", "HP:0031813"], "information_content": 100.0}
{"id": "MONDO:0030673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 86, autosomal recessive", "equivalent_identifiers": ["MONDO:0030673", "DOID:0112342", "OMIM:619735", "orphanet:631085", "UMLS:C5676910", "medgen:1801286"], "information_content": 100.0}
{"id": "MONDO:0012656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 3", "equivalent_identifiers": ["MONDO:0012656", "DOID:0060653", "OMIM:611369", "orphanet:137783", "UMLS:C1969655", "MESH:C566961", "SNOMEDCT:715420005", "medgen:369555"], "information_content": 100.0}
{"id": "MONDO:0008780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 2, juvenile", "equivalent_identifiers": ["MONDO:0008780", "DOID:0060194", "OMIM:205100", "UMLS:C1859807", "MESH:C565957", "SNOMEDCT:1201947005", "medgen:349246"], "information_content": 100.0}
{"id": "HP:0002193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudobulbar affect", "equivalent_identifiers": ["HP:0002193", "UMLS:C2316460", "UMLS:C4025720", "MEDDRA:10068551", "SNOMEDCT:432776007"], "information_content": 100.0}
{"id": "HP:0002501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spasticity of pharyngeal muscles", "equivalent_identifiers": ["HP:0002501", "UMLS:C1853398"], "information_content": 100.0}
{"id": "HP:0033747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal exteroceptive sensation", "equivalent_identifiers": ["HP:0033747", "UMLS:C5539790"], "information_content": 79.3}
{"id": "HP:0002491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spasticity of facial muscles", "equivalent_identifiers": ["HP:0002491", "UMLS:C1853404", "UMLS:C4280570", "UMLS:C4280571"], "information_content": 100.0}
{"id": "MONDO:0008309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary release disorder of platelets", "equivalent_identifiers": ["MONDO:0008309", "OMIM:176630", "UMLS:C1867770", "MESH:C566759", "medgen:356845"], "information_content": 100.0}
{"id": "MONDO:0011370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stargardt disease 4", "equivalent_identifiers": ["MONDO:0011370", "OMIM:603786", "UMLS:C1863534", "MESH:C535521", "medgen:355004"], "information_content": 100.0}
{"id": "MONDO:0009544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly/megalencephaly syndrome, autosomal recessive", "equivalent_identifiers": ["MONDO:0009544", "OMIM:248000", "UMLS:C2931497", "UMLS:C3806412", "MESH:C537453", "medgen:812742"], "information_content": 100.0}
{"id": "HP:0008239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal medullary hypoplasia", "equivalent_identifiers": ["HP:0008239", "UMLS:C4024717"], "information_content": 100.0}
{"id": "MONDO:0957988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, type 23", "equivalent_identifiers": ["MONDO:0957988", "OMIM:620639", "UMLS:C5882757", "medgen:1846121"], "information_content": 100.0}
{"id": "HP:0008804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad femoral head", "equivalent_identifiers": ["HP:0008804", "UMLS:C4024619"], "information_content": 100.0}
{"id": "MONDO:0008941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic fibrosis-renal cysts-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008941", "OMIM:213010", "orphanet:2031", "UMLS:C1859300", "MESH:C565867", "medgen:347120"], "information_content": 100.0}
{"id": "MONDO:0007504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thickened earlobes-conductive deafness syndrome", "equivalent_identifiers": ["MONDO:0007504", "OMIM:128980", "orphanet:2405", "UMLS:C1851896", "UMLS:C4302507", "SNOMEDCT:722476007", "medgen:343676"], "information_content": 100.0}
{"id": "HP:0008591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital conductive hearing impairment", "equivalent_identifiers": ["HP:0008591", "UMLS:C4021537", "SNOMEDCT:737344003"], "information_content": 100.0}
{"id": "HP:0004452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the middle ear ossicles", "equivalent_identifiers": ["HP:0004452", "UMLS:C1836678"], "information_content": 72.1}
{"id": "HP:0200111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent stapes head", "equivalent_identifiers": ["HP:0200111", "UMLS:C4021888"], "information_content": 100.0}
{"id": "HP:0011454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal malleus morphology", "equivalent_identifiers": ["HP:0011454", "UMLS:C4023349"], "information_content": 79.0}
{"id": "MONDO:0014307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dowling-Degos disease 4", "equivalent_identifiers": ["MONDO:0014307", "OMIM:615696", "UMLS:C3810313", "medgen:816643"], "information_content": 100.0}
{"id": "HP:0011830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal oral mucosa morphology", "equivalent_identifiers": ["HP:0011830", "UMLS:C4023170"], "information_content": 71.4}
{"id": "HP:0007592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the eccrine sweat glands", "equivalent_identifiers": ["HP:0007592", "UMLS:C1844618"], "information_content": 92.8}
{"id": "HP:0007411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic-absent sebaceous glands", "equivalent_identifiers": ["HP:0007411", "UMLS:C1844617"], "information_content": 100.0}
{"id": "OMIM:132700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ancell-Spiegler cylindromas", "equivalent_identifiers": ["OMIM:132700", "UMLS:C1851526", "MESH:C536611", "NCIT:C205363"], "information_content": 92.8}
{"id": "MONDO:0013813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 21", "equivalent_identifiers": ["MONDO:0013813", "DOID:0090046", "OMIM:614588", "orphanet:306734", "UMLS:C3281236", "SNOMEDCT:716664003", "medgen:482866"], "information_content": 100.0}
{"id": "MONDO:0008113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schilbach-Rott syndrome", "equivalent_identifiers": ["MONDO:0008113", "OMIM:164220", "orphanet:2353", "UMLS:C1834038", "MESH:C563509", "SNOMEDCT:721902002", "medgen:371716"], "information_content": 100.0}
{"id": "MONDO:0019666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, PAPSS2 type", "equivalent_identifiers": ["MONDO:0019666", "DOID:0050812", "OMIM:612847", "orphanet:93282", "UMLS:C2748515", "UMLS:C2748516", "MESH:C567551", "MESH:C567552", "SNOMEDCT:719172003", "medgen:411234"], "information_content": 100.0}
{"id": "MONDO:0013314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 56", "equivalent_identifiers": ["MONDO:0013314", "DOID:0110371", "OMIM:613581", "UMLS:C3150819", "medgen:462169"], "information_content": 100.0}
{"id": "MONDO:0012137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney complex - trismus - pseudocamptodactyly syndrome", "equivalent_identifiers": ["MONDO:0012137", "OMIM:608837", "orphanet:319340", "UMLS:C1837245", "MESH:C563845", "medgen:332400"], "information_content": 100.0}
{"id": "MONDO:0054764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 8", "equivalent_identifiers": ["MONDO:0054764", "OMIM:617917", "UMLS:C4693587", "medgen:1645224"], "information_content": 100.0}
{"id": "MONDO:0011986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tropical pancreatitis", "equivalent_identifiers": ["MONDO:0011986", "OMIM:608189", "orphanet:103918", "UMLS:C1842402", "MESH:C564276", "SNOMEDCT:724540009", "medgen:334069", "icd11.foundation:1645607956"], "information_content": 100.0}
{"id": "HP:0005213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic calcification", "equivalent_identifiers": ["HP:0005213", "UMLS:C1842406", "MEDDRA:10068823"], "information_content": 95.4}
{"id": "HP:0008205", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Insulin-dependent but ketosis-resistant diabetes", "equivalent_identifiers": ["HP:0008205", "UMLS:C1842404"], "information_content": 100.0}
{"id": "MONDO:0011151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 4", "equivalent_identifiers": ["MONDO:0011151", "DOID:0111411", "OMIM:601813", "UMLS:C1866176", "MESH:C566619", "medgen:356171"], "information_content": 100.0}
{"id": "HP:0007917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tractional retinal detachment", "equivalent_identifiers": ["HP:0007917", "NCIT:C118759", "UMLS:C0154828", "UMLS:C1866178", "MEDDRA:10044331", "MEDDRA:10080316", "SNOMEDCT:34711008"], "information_content": 95.4}
{"id": "HP:0007685", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral retinal avascularization", "equivalent_identifiers": ["HP:0007685", "UMLS:C1851406"], "information_content": 100.0}
{"id": "MONDO:0007017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitreous detachment", "equivalent_identifiers": ["MONDO:0007017", "DOID:9726", "EFO:1001238", "UMLS:C0042907", "UMLS:C0423361", "MESH:D020255", "MEDDRA:10047650", "MEDDRA:10058006", "NCIT:C50807", "SNOMEDCT:247081001", "SNOMEDCT:53772007", "medgen:140839", "HP:0001489"], "information_content": 100.0}
{"id": "MONDO:0008140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ossified ear cartilages", "equivalent_identifiers": ["MONDO:0008140", "OMIM:165670", "UMLS:C1833791", "MESH:C563488", "medgen:331587"], "information_content": 100.0}
{"id": "MONDO:0100467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preeclampsia/eclampsia 1", "equivalent_identifiers": ["MONDO:0100467", "OMIM:189800", "UMLS:C5574918", "medgen:1807479"], "information_content": 100.0}
{"id": "MONDO:0014376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0014376", "DOID:0070057", "OMIM:615866", "UMLS:C4014528", "medgen:862965"], "information_content": 100.0}
{"id": "MONDO:0014378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 29", "equivalent_identifiers": ["MONDO:0014378", "DOID:0110600", "OMIM:615872", "UMLS:C4014534", "NCIT:C172393", "medgen:862971"], "information_content": 100.0}
{"id": "MONDO:0010120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 3", "equivalent_identifiers": ["MONDO:0010120", "OMIM:273900", "UMLS:C2678311", "MESH:C567487", "medgen:437174"], "information_content": 100.0}
{"id": "HP:0012143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal megakaryocyte morphology", "equivalent_identifiers": ["HP:0012143", "UMLS:C4023026"], "information_content": 82.1}
{"id": "HP:0007420", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous hematomas", "equivalent_identifiers": ["HP:0007420", "UMLS:C1697453", "MEDDRA:10065304", "MEDDRA:10065310"], "information_content": 100.0}
{"id": "MONDO:0012238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "equivalent_identifiers": ["MONDO:0012238", "DOID:0111517", "OMIM:609283", "UMLS:C1836460", "MESH:C563750", "medgen:322925"], "information_content": 100.0}
{"id": "MONDO:0030835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy", "equivalent_identifiers": ["MONDO:0030835", "OMIM:619090", "UMLS:C5436781", "medgen:1765507"], "information_content": 100.0}
{"id": "OMIM:621269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spermatogenic failure 101", "equivalent_identifiers": ["OMIM:621269"]}
{"id": "HP:0025133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal serum estradiol", "equivalent_identifiers": ["HP:0025133", "UMLS:C0857963", "MEDDRA:10040350", "MEDDRA:10054622"], "information_content": 92.8}
{"id": "MONDO:0060659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with poor language and loss of hand skills", "equivalent_identifiers": ["MONDO:0060659", "OMIM:617903", "UMLS:C4693546", "medgen:1637031"], "information_content": 100.0}
{"id": "MONDO:0859341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 15", "equivalent_identifiers": ["MONDO:0859341", "DOID:0060968", "OMIM:620177", "UMLS:C5774279", "medgen:1824052"], "information_content": 100.0}
{"id": "MONDO:0011300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myopia 3", "equivalent_identifiers": ["MONDO:0011300", "OMIM:603221", "UMLS:C1864111", "MESH:C566397", "medgen:400454"], "information_content": 100.0}
{"id": "OMIM:109543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B-CELL MALIGNANCY, LOW-GRADE", "equivalent_identifiers": ["OMIM:109543", "UMLS:C1868683"]}
{"id": "MONDO:0032574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteochondrodysplasia, brachydactyly, and overlapping malformed digits", "equivalent_identifiers": ["MONDO:0032574", "OMIM:618167", "UMLS:C4748496", "medgen:1648332"], "information_content": 100.0}
{"id": "HP:0001049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent dorsal skin creases over affected joints", "equivalent_identifiers": ["HP:0001049", "UMLS:C1861400"], "information_content": 100.0}
{"id": "MONDO:0036193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parkinsonism with polyneuropathy", "equivalent_identifiers": ["MONDO:0036193", "OMIM:619279", "orphanet:611237", "UMLS:C5543299", "NCIT:C201521", "SNOMEDCT:1356741005", "medgen:1783451"], "information_content": 100.0}
{"id": "MONDO:0976135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 14, autosomal", "equivalent_identifiers": ["MONDO:0976135", "DOID:0061123", "OMIM:621080", "UMLS:C5975611"], "information_content": 100.0}
{"id": "MONDO:0019808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve atresia", "equivalent_identifiers": ["MONDO:0019808", "orphanet:95448", "UMLS:C0265843", "MEDDRA:10066801", "NCIT:C98818", "SNOMEDCT:51442005", "medgen:451016", "icd11.foundation:1700740306", "HP:0010883"], "information_content": 95.4}
{"id": "HP:0011537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left atrial isomerism", "equivalent_identifiers": ["HP:0011537", "UMLS:C3178807", "MEDDRA:10080600"], "information_content": 100.0}
{"id": "HP:0031349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Levotransposition of the great arteries", "equivalent_identifiers": ["HP:0031349", "UMLS:C1275809", "SNOMEDCT:399046008"], "information_content": 100.0}
{"id": "HP:0011535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal atrial arrangement", "equivalent_identifiers": ["HP:0011535", "UMLS:C2959688", "SNOMEDCT:445898001"], "information_content": 89.4}
{"id": "HP:0033183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilobed right lung", "equivalent_identifiers": ["HP:0033183", "UMLS:C0265792", "SNOMEDCT:29052002"], "information_content": 100.0}
{"id": "HP:0005151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Preductal coarctation of the aorta", "equivalent_identifiers": ["HP:0005151", "UMLS:C0265878", "SNOMEDCT:13867009"], "information_content": 100.0}
{"id": "HP:0010772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous pulmonary venous return", "equivalent_identifiers": ["HP:0010772"], "information_content": 86.3}
{"id": "MONDO:0044322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with neuropsychiatric features", "equivalent_identifiers": ["MONDO:0044322", "OMIM:617532", "UMLS:C4479636", "medgen:1379216"], "information_content": 100.0}
{"id": "MONDO:0054637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome-like disorder with loose anagen hair 1", "equivalent_identifiers": ["MONDO:0054637", "DOID:0080692", "OMIM:607721", "UMLS:C4478716", "NCIT:C176939", "medgen:1379805"], "information_content": 100.0}
{"id": "HP:0040169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loose anagen hair", "equivalent_identifiers": ["HP:0040169", "UMLS:C3554793"], "information_content": 100.0}
{"id": "MONDO:0007055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acromicric dysplasia", "equivalent_identifiers": ["MONDO:0007055", "DOID:0111243", "OMIM:102370", "orphanet:969", "UMLS:C0265287", "MESH:C535662", "MEDDRA:10083854", "SNOMEDCT:254090007", "medgen:78549", "icd11.foundation:1006372687"], "information_content": 100.0}
{"id": "HP:0005900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fifth metacarpal with ulnar notch", "equivalent_identifiers": ["HP:0005900", "UMLS:C3276324"], "information_content": 100.0}
{"id": "MONDO:0011337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis 2", "equivalent_identifiers": ["MONDO:0011337", "DOID:0110922", "OMIM:603553", "UMLS:C1863727", "MESH:C537250", "NCIT:C203462", "medgen:400366"], "information_content": 92.8}
{"id": "MONDO:0009271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geroderma osteodysplastica", "equivalent_identifiers": ["MONDO:0009271", "DOID:0111266", "OMIM:231070", "orphanet:2078", "UMLS:C0432255", "MESH:C537799", "SNOMEDCT:254116003", "medgen:98149"], "information_content": 100.0}
{"id": "HP:0007414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal wrinkled skin of hands and feet", "equivalent_identifiers": ["HP:0007414", "UMLS:C4024884"], "information_content": 100.0}
{"id": "MONDO:0014716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "equivalent_identifiers": ["MONDO:0014716", "OMIM:616638", "orphanet:457485", "EFO:0009050", "UMLS:C4225259", "SNOMEDCT:1187304005", "medgen:899689"], "information_content": 100.0}
{"id": "MONDO:0976226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal dominant 15", "equivalent_identifiers": ["MONDO:0976226", "DOID:0051042", "OMIM:621094", "UMLS:C5975628"], "information_content": 100.0}
{"id": "HP:0040132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sensory nerve conduction velocity", "equivalent_identifiers": ["HP:0040132", "UMLS:C4022421"], "information_content": 95.4}
{"id": "MONDO:0011040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal dysplasia, Anhalt type", "equivalent_identifiers": ["MONDO:0011040", "OMIM:601344", "UMLS:C1832464", "MESH:C563348", "medgen:318632"], "information_content": 100.0}
{"id": "HP:0004268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoarthritis of the small joints of the hand", "equivalent_identifiers": ["HP:0004268", "UMLS:C4025381"], "information_content": 92.8}
{"id": "HP:0008473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow anterio-posterior vertebral body diameter", "equivalent_identifiers": ["HP:0008473", "UMLS:C4021540"], "information_content": 95.4}
{"id": "HP:0008464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent spinous processes of lower thoracic and lumbar vertebrae", "equivalent_identifiers": ["HP:0008464", "UMLS:C4024671"], "information_content": 100.0}
{"id": "HP:0008423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal dysplasia", "equivalent_identifiers": ["HP:0008423", "UMLS:C4021853"], "information_content": 100.0}
{"id": "MONDO:0033014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis et progressiva 4", "equivalent_identifiers": ["MONDO:0033014", "DOID:0080250", "OMIM:617526", "UMLS:C4479620", "medgen:1372799"], "information_content": 100.0}
{"id": "MONDO:0032577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 83", "equivalent_identifiers": ["MONDO:0032577", "DOID:0112140", "OMIM:618173", "UMLS:C4748536", "medgen:1648404"], "information_content": 100.0}
{"id": "HP:0030672", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asteroid hyalosis", "equivalent_identifiers": ["HP:0030672", "UMLS:C0521770", "MEDDRA:10003548", "MEDDRA:10020478", "SNOMEDCT:95800001"], "information_content": 100.0}
{"id": "MONDO:0012706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 4", "equivalent_identifiers": ["MONDO:0012706", "DOID:0060753", "OMIM:611631", "UMLS:C1968847", "MESH:C566902", "medgen:368897"], "information_content": 100.0}
{"id": "MONDO:0008876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bloom syndrome", "equivalent_identifiers": ["MONDO:0008876", "DOID:2717", "OMIM:210900", "orphanet:125", "UMLS:C0005859", "UMLS:C4746755", "MESH:D001816", "MEDDRA:10073032", "MEDDRA:10073038", "NCIT:C2903", "SNOMEDCT:4434006", "medgen:2685", "icd11.foundation:1838213890"], "information_content": 92.8}
{"id": "HP:0005598", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial telangiectasia in butterfly midface distribution", "equivalent_identifiers": ["HP:0005598", "UMLS:C4021632"], "information_content": 100.0}
{"id": "HP:0000868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased fertility in females", "equivalent_identifiers": ["HP:0000868", "UMLS:C0151639", "MEDDRA:10016463", "MEDDRA:10016465"], "information_content": 88.2}
{"id": "MONDO:0013882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia with intellectual disability syndrome 2", "equivalent_identifiers": ["MONDO:0013882", "DOID:0070434", "OMIM:614749", "UMLS:C3553637", "medgen:766551"], "information_content": 100.0}
{"id": "HP:0011316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left unicoronal synostosis", "equivalent_identifiers": ["HP:0011316", "UMLS:C4023417"], "information_content": 100.0}
{"id": "MONDO:0700107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 19q13.11 deletion syndrome, distal", "equivalent_identifiers": ["MONDO:0700107", "OMIM:613026", "UMLS:C4311048", "medgen:935015"], "information_content": 100.0}
{"id": "MONDO:0014995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, seizures, and absent language", "equivalent_identifiers": ["MONDO:0014995", "OMIM:617268", "UMLS:C4310643", "medgen:934610"], "information_content": 100.0}
{"id": "MONDO:0020740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia and immunodeficiency 1", "equivalent_identifiers": ["MONDO:0020740", "DOID:0081078", "OMIM:300291", "UMLS:C1846008", "MESH:C564542", "NCIT:C176592", "medgen:375787"], "information_content": 100.0}
{"id": "HP:0040042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the eccrine sweat glands", "equivalent_identifiers": ["HP:0040042", "UMLS:C4022475"], "information_content": 100.0}
{"id": "HP:0031692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe cytomegalovirus infection", "equivalent_identifiers": ["HP:0031692", "UMLS:C4703481"], "information_content": 92.8}
{"id": "MONDO:0008991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Verloove Vanhorick-Brubakk syndrome", "equivalent_identifiers": ["MONDO:0008991", "OMIM:215850", "orphanet:3429", "UMLS:C1859082", "MESH:C536541", "SNOMEDCT:764697003", "medgen:395171"], "information_content": 100.0}
{"id": "MONDO:0030985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 19", "equivalent_identifiers": ["MONDO:0030985", "DOID:0112278", "OMIM:619245", "UMLS:C5543229", "medgen:1779702"], "information_content": 100.0}
{"id": "MONDO:0014518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 19", "equivalent_identifiers": ["MONDO:0014518", "DOID:0111048", "OMIM:616176", "orphanet:438207", "UMLS:C4015405", "medgen:863842"], "information_content": 100.0}
{"id": "MONDO:0018274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM3 synthase deficiency", "equivalent_identifiers": ["MONDO:0018274", "DOID:0060470", "OMIM:609056", "orphanet:370933", "UMLS:C1836824", "MESH:C563799", "SNOMEDCT:722762005", "medgen:323005"], "information_content": 100.0}
{"id": "HP:0006834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Developmental stagnation at onset of seizures", "equivalent_identifiers": ["HP:0006834", "UMLS:C1836829"], "information_content": 100.0}
{"id": "MONDO:0012861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 6", "equivalent_identifiers": ["MONDO:0012861", "DOID:0080863", "OMIM:612310", "UMLS:C2676742", "MESH:C567351", "medgen:394115"], "information_content": 100.0}
{"id": "MONDO:0020741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant", "equivalent_identifiers": ["MONDO:0020741", "DOID:0070519", "OMIM:266100"], "information_content": 100.0}
{"id": "HP:6000268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating pipecolic acid concentration", "equivalent_identifiers": ["HP:6000268", "UMLS:C5891174"], "information_content": 100.0}
{"id": "HP:0034365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating alpha-aminoadipic semialdehyde concentration", "equivalent_identifiers": ["HP:0034365", "UMLS:C5706192"], "information_content": 100.0}
{"id": "HP:0001557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prenatal movement abnormality", "equivalent_identifiers": ["HP:0001557", "UMLS:C1849510"], "information_content": 88.2}
{"id": "MONDO:0030436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia, sideroblastic, 5", "equivalent_identifiers": ["MONDO:0030436", "DOID:0061007", "OMIM:619523", "UMLS:C5561985", "medgen:1794195"], "information_content": 100.0}
{"id": "HP:0031851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hematocrit", "equivalent_identifiers": ["HP:0031851", "UMLS:C0744727", "MEDDRA:10018838", "MEDDRA:10018841", "MEDDRA:10018843", "MEDDRA:10019423", "MEDDRA:10060546", "MEDDRA:10060548"], "information_content": 100.0}
{"id": "MONDO:0010808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatal familial insomnia", "equivalent_identifiers": ["MONDO:0010808", "DOID:0050433", "OMIM:600072", "orphanet:466", "UMLS:C0206042", "MESH:D034062", "MEDDRA:10072077", "NCIT:C84711", "SNOMEDCT:83157008", "medgen:104768", "icd11.foundation:669154658", "ICD10:A81.83", "ICD9:046.72"], "information_content": 100.0}
{"id": "MONDO:0007311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1E", "equivalent_identifiers": ["MONDO:0007311", "DOID:0110153", "OMIM:118300", "orphanet:90658", "UMLS:C2931686", "UMLS:C3495591", "MESH:C537986", "MESH:C566136", "medgen:501212", "icd11.foundation:1924906594"], "information_content": 100.0}
{"id": "HP:0031374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle weakness", "equivalent_identifiers": ["HP:0031374", "UMLS:C2228039"], "information_content": 100.0}
{"id": "MONDO:0014707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "14q32 duplication syndrome", "equivalent_identifiers": ["MONDO:0014707", "OMIM:616604", "orphanet:488280", "UMLS:C4225449", "SNOMEDCT:1234830005", "medgen:896239"], "information_content": 100.0}
{"id": "MONDO:0020311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic myelomonocytic leukemia", "equivalent_identifiers": ["MONDO:0020311", "DOID:0080188", "orphanet:98823", "EFO:1001779", "UMLS:C0023480", "UMLS:C1337071", "UMLS:C1337072", "MESH:D015477", "MEDDRA:10009018", "MEDDRA:10054350", "NCIT:C3178", "SNOMEDCT:127225006", "SNOMEDCT:128831004", "medgen:44125", "icd11.foundation:2073226578", "HP:0012325"], "information_content": 83.6}
{"id": "MONDO:0009841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PEHO syndrome", "equivalent_identifiers": ["MONDO:0009841", "DOID:0080539", "OMIM:260565", "orphanet:2836", "UMLS:C1850055", "MESH:C536317", "MEDDRA:10086612", "SNOMEDCT:442511009", "medgen:342404", "icd11.foundation:976613527"], "information_content": 100.0}
{"id": "HP:0003469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral dysmyelination", "equivalent_identifiers": ["HP:0003469", "UMLS:C4025610"], "information_content": 100.0}
{"id": "MONDO:0012911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoparathyroidism type 1C", "equivalent_identifiers": ["MONDO:0012911", "DOID:0051013", "OMIM:612462", "orphanet:79444", "UMLS:C2932716", "MESH:C548076", "SNOMEDCT:717792007", "medgen:420958", "icd11.foundation:1401673748"], "information_content": 100.0}
{"id": "MONDO:0007957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mediosternal depigmentation line", "equivalent_identifiers": ["MONDO:0007957", "OMIM:155200", "UMLS:C1835085", "medgen:371971"], "information_content": 100.0}
{"id": "HP:0007581", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mediosternal, longitudinal streak of hypopigmentation", "equivalent_identifiers": ["HP:0007581", "UMLS:C4024840"], "information_content": 100.0}
{"id": "MONDO:0012860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to protein C deficiency, autosomal recessive", "equivalent_identifiers": ["MONDO:0012860", "DOID:0111904", "OMIM:612304", "UMLS:C2676759", "MESH:C567353", "medgen:394120"], "information_content": 100.0}
{"id": "MONDO:0007907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoma of the conjunctiva", "equivalent_identifiers": ["MONDO:0007907", "OMIM:151700", "UMLS:C1835373", "MESH:C563620", "medgen:372030"], "information_content": 100.0}
{"id": "HP:0012549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjunctival lipoma", "equivalent_identifiers": ["HP:0012549", "UMLS:C4022854"], "information_content": 100.0}
{"id": "MONDO:0011767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 31", "equivalent_identifiers": ["MONDO:0011767", "DOID:0110490", "OMIM:607084", "UMLS:C1846839", "MESH:C564629", "medgen:339621"], "information_content": 100.0}
{"id": "MONDO:0015008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta, type 1J", "equivalent_identifiers": ["MONDO:0015008", "DOID:0080953", "OMIM:617297", "EFO:0009302", "UMLS:C4310630", "medgen:934597"], "information_content": 100.0}
{"id": "MONDO:0008124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omphalocele, autosomal", "equivalent_identifiers": ["MONDO:0008124", "OMIM:164750", "UMLS:C3277235", "medgen:478865"], "information_content": 100.0}
{"id": "MONDO:0013986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 14", "equivalent_identifiers": ["MONDO:0013986", "DOID:0111477", "OMIM:614946", "orphanet:319519", "UMLS:C4755312", "SNOMEDCT:778065005", "medgen:1663069"], "information_content": 100.0}
{"id": "HP:0025321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Copper accumulation in liver", "equivalent_identifiers": ["HP:0025321", "UMLS:C3672035"], "information_content": 95.4}
{"id": "MONDO:0975958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 97", "equivalent_identifiers": ["MONDO:0975958", "OMIM:621057", "UMLS:C5975569"], "information_content": 100.0}
{"id": "HP:0034818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe oligozoospermia", "equivalent_identifiers": ["HP:0034818", "UMLS:C4693770"], "information_content": 100.0}
{"id": "HP:0045058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the testis size", "equivalent_identifiers": ["HP:0045058", "UMLS:C4073180"], "information_content": 75.8}
{"id": "HP:0025437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrozoospermia", "equivalent_identifiers": ["HP:0025437", "UMLS:C4476776"], "information_content": 100.0}
{"id": "MONDO:0008714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis Rodriguez type", "equivalent_identifiers": ["MONDO:0008714", "DOID:0060383", "OMIM:201170", "orphanet:1788", "UMLS:C1860119", "MESH:C538183", "SNOMEDCT:720430002", "medgen:349730"], "information_content": 100.0}
{"id": "HP:0005632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent forearm", "equivalent_identifiers": ["HP:0005632", "UMLS:C1408532"], "information_content": 100.0}
{"id": "MONDO:0013419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component C1s deficiency", "equivalent_identifiers": ["MONDO:0013419", "OMIM:613783", "UMLS:C3151078", "MESH:C565170", "medgen:462428"], "information_content": 100.0}
{"id": "HP:0005339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of complement system", "equivalent_identifiers": ["HP:0005339", "UMLS:C4025213"], "information_content": 75.3}
{"id": "MONDO:0007266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 2", "equivalent_identifiers": ["MONDO:0007266", "DOID:0110308", "OMIM:115195", "UMLS:C1861864", "MESH:C566171", "NCIT:C142892", "medgen:349383"], "information_content": 100.0}
{"id": "MONDO:0010007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microbrachycephaly-ptosis-cleft lip syndrome", "equivalent_identifiers": ["MONDO:0010007", "OMIM:268850", "orphanet:2511", "UMLS:C0796142", "MESH:C563119", "medgen:162914"], "information_content": 100.0}
{"id": "HP:0011297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal digit morphology", "equivalent_identifiers": ["HP:0011297", "UMLS:C3550704"], "information_content": 49.9}
{"id": "MONDO:0010780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial myopathy with reversible cytochrome C oxidase deficiency", "equivalent_identifiers": ["MONDO:0010780", "OMIM:500009", "orphanet:254864", "UMLS:C3151898", "medgen:463248", "icd11.foundation:723205095"], "information_content": 100.0}
{"id": "HP:0100293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertrophied muscle fibers", "equivalent_identifiers": ["HP:0100293", "UMLS:C0333759", "SNOMEDCT:42091004"], "information_content": 100.0}
{"id": "MONDO:0859137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia", "equivalent_identifiers": ["MONDO:0859137", "OMIM:619286", "UMLS:C5543306", "medgen:1781371"], "information_content": 100.0}
{"id": "MONDO:0010654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partington syndrome", "equivalent_identifiers": ["MONDO:0010654", "DOID:14744", "OMIM:309510", "orphanet:94083", "UMLS:C0796250", "MESH:C536300", "medgen:163237"], "information_content": 100.0}
{"id": "HP:0004562", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beaking of vertebral bodies T12-L3", "equivalent_identifiers": ["HP:0004562", "UMLS:C1854941"], "information_content": 100.0}
{"id": "HP:0008470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower thoracic interpediculate narrowness", "equivalent_identifiers": ["HP:0008470", "UMLS:C1854940"], "information_content": 100.0}
{"id": "HP:0009092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive alveolar ridge hypertrophy", "equivalent_identifiers": ["HP:0009092", "UMLS:C1854934", "UMLS:C4280407"], "information_content": 100.0}
{"id": "HP:0009769", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bullet-shaped phalanges of the hand", "equivalent_identifiers": ["HP:0009769", "UMLS:C1854952"], "information_content": 79.3}
{"id": "HP:0006362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Varus deformity of humeral neck", "equivalent_identifiers": ["HP:0006362", "UMLS:C1854948"], "information_content": 100.0}
{"id": "MONDO:0032597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenic syndrome, congenital, 24, presynaptic", "equivalent_identifiers": ["MONDO:0032597", "OMIM:618198", "UMLS:C4748684", "medgen:1648337"], "information_content": 100.0}
{"id": "MONDO:0010355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Claes-Jensen type", "equivalent_identifiers": ["MONDO:0010355", "DOID:0060809", "OMIM:300534", "orphanet:85279", "UMLS:C1845243", "UMLS:C4304915", "MESH:C564494", "SNOMEDCT:719161008", "medgen:335139"], "information_content": 100.0}
{"id": "HP:0008124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talipes calcaneovarus", "equivalent_identifiers": ["HP:0008124", "UMLS:C0265646", "SNOMEDCT:30449003"], "information_content": 100.0}
{"id": "HP:0007020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive spastic paraplegia", "equivalent_identifiers": ["HP:0007020", "UMLS:C1855483"], "information_content": 100.0}
{"id": "MONDO:0032940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 88", "equivalent_identifiers": ["MONDO:0032940", "DOID:0112145", "OMIM:618826", "UMLS:C5394208", "medgen:1720448"], "information_content": 100.0}
{"id": "MONDO:0008490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "equivalent_identifiers": ["MONDO:0008490", "DOID:0080677", "DOID:4258", "OMIM:184840", "orphanet:166100", "UMLS:C1848488", "UMLS:C1861481", "MESH:C535776", "MESH:C537494", "MEDDRA:10084415", "MEDDRA:10084425", "SNOMEDCT:699313003", "SNOMEDCT:783097004", "medgen:341234"], "information_content": 100.0}
{"id": "MONDO:0011933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011933", "DOID:0080561", "OMIM:607906", "orphanet:79326", "UMLS:C1842836", "MESH:C000623088", "SNOMEDCT:897592003", "medgen:334618"], "information_content": 95.4}
{"id": "MONDO:0009723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leigh syndrome", "equivalent_identifiers": ["MONDO:0009723", "DOID:3652", "OMIM:256000", "orphanet:506", "UMLS:C0023264", "UMLS:C2931891", "MESH:C538590", "MESH:D007888", "MEDDRA:10062950", "NCIT:C84814", "SNOMEDCT:29570005", "medgen:419518", "icd11.foundation:672871576", "ICD10:G31.82"], "information_content": 88.2}
{"id": "HP:0033249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal substantia nigra T2 hyperintensity", "equivalent_identifiers": ["HP:0033249", "UMLS:C5539457"], "information_content": 100.0}
{"id": "HP:0002793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pattern of respiration", "equivalent_identifiers": ["HP:0002793", "UMLS:C1837388"], "information_content": 69.6}
{"id": "MONDO:0008133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 3", "equivalent_identifiers": ["MONDO:0008133", "DOID:0111433", "OMIM:165300", "orphanet:67036", "UMLS:C1833809", "MESH:C537128", "SNOMEDCT:719517009", "medgen:371657"], "information_content": 100.0}
{"id": "MONDO:0957270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, limb-girdle, autosomal recessive 28", "equivalent_identifiers": ["MONDO:0957270", "DOID:0061130", "OMIM:620375", "orphanet:653725", "UMLS:C5830518", "medgen:1841154"], "information_content": 100.0}
{"id": "HP:0410174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating troponin T concentration", "equivalent_identifiers": ["HP:0410174", "UMLS:C4703661"], "information_content": 100.0}
{"id": "HP:0030099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle fiber alpha dystroglycan", "equivalent_identifiers": ["HP:0030099", "UMLS:C4022646"], "information_content": 100.0}
{"id": "MONDO:0030005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, early-onset, with or without developmental delay", "equivalent_identifiers": ["MONDO:0030005", "DOID:0070471", "OMIM:618832", "EFO:0010739", "UMLS:C5882670", "medgen:1845576"], "information_content": 100.0}
{"id": "MONDO:0100352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic kinesigenic dyskinesia 1", "equivalent_identifiers": ["MONDO:0100352", "DOID:0090053", "OMIM:128200", "UMLS:C4552000", "MESH:C537180", "NCIT:C178413", "SNOMEDCT:609221008", "medgen:1636366"], "information_content": 100.0}
{"id": "MONDO:0008916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy associated with myopathy and sudden death", "equivalent_identifiers": ["MONDO:0008916", "OMIM:212130", "UMLS:C1859328", "MESH:C565881", "medgen:395232"], "information_content": 100.0}
{"id": "HP:0008138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Equinus calcaneus", "equivalent_identifiers": ["HP:0008138", "UMLS:C1860449"], "information_content": 100.0}
{"id": "MONDO:0012735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temple-Baraitser syndrome", "equivalent_identifiers": ["MONDO:0012735", "OMIM:611816", "orphanet:420561", "EFO:0009062", "UMLS:C2678486", "MESH:C567516", "SNOMEDCT:725140007", "medgen:395636"], "information_content": 100.0}
{"id": "HP:0012554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent thumbnail", "equivalent_identifiers": ["HP:0012554", "UMLS:C4022849"], "information_content": 100.0}
{"id": "HP:0012555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent nail of hallux", "equivalent_identifiers": ["HP:0012555", "UMLS:C4021081"], "information_content": 100.0}
{"id": "HP:0009693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphysis of the thumb", "equivalent_identifiers": ["HP:0009693", "UMLS:C3552484"], "information_content": 92.8}
{"id": "MONDO:0010566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cone-rod dystrophy 1", "equivalent_identifiers": ["MONDO:0010566", "DOID:0111008", "OMIM:304020", "UMLS:C1844776", "MESH:C564438", "medgen:336777"], "information_content": 100.0}
{"id": "HP:0030632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoautofluorescent macular lesion", "equivalent_identifiers": ["HP:0030632", "UMLS:C4073102"], "information_content": 100.0}
{"id": "MONDO:0007549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized dominant dystrophic epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0007549", "DOID:0080224", "OMIM:131750", "orphanet:231568", "UMLS:C0079136", "UMLS:C0432322", "MESH:C535956", "MEDDRA:10087378", "SNOMEDCT:111389006", "SNOMEDCT:1231284001", "SNOMEDCT:75875004", "medgen:140935"], "information_content": 100.0}
{"id": "MONDO:0958191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis", "equivalent_identifiers": ["MONDO:0958191", "OMIM:620374", "UMLS:C5830516", "medgen:1841152"], "information_content": 100.0}
{"id": "HP:0012405", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocitraturia", "equivalent_identifiers": ["HP:0012405", "NCIT:C114708", "UMLS:C2673444", "MEDDRA:10070871"], "information_content": 95.4}
{"id": "MONDO:0009525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split hand-foot malformation 3", "equivalent_identifiers": ["MONDO:0009525", "DOID:0090025", "OMIM:246560", "orphanet:1307", "UMLS:C1838652", "UMLS:C4302673", "MESH:C565437", "NCIT:C75121", "SNOMEDCT:722429003", "medgen:325070"], "information_content": 100.0}
{"id": "MONDO:0009805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 9", "equivalent_identifiers": ["MONDO:0009805", "DOID:0110349", "OMIM:259440", "UMLS:C1850169", "MESH:C564921", "medgen:376720"], "information_content": 100.0}
{"id": "HP:0045087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip joint hypermobility", "equivalent_identifiers": ["HP:0045087", "UMLS:C0574977", "SNOMEDCT:298196001"], "information_content": 100.0}
{"id": "MONDO:0008342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pubic bone dysplasia", "equivalent_identifiers": ["MONDO:0008342", "OMIM:178350", "UMLS:C1867436", "MESH:C566735", "medgen:356777"], "information_content": 100.0}
{"id": "MONDO:0859139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis-impaired intellectual development syndrome", "equivalent_identifiers": ["MONDO:0859139", "DOID:0081442", "OMIM:619293", "orphanet:637013", "UMLS:C5443984", "medgen:1779966"], "information_content": 100.0}
{"id": "MONDO:0009048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "curved nail of fourth toe", "equivalent_identifiers": ["MONDO:0009048", "OMIM:219070", "UMLS:C1857452", "medgen:347457"], "information_content": 100.0}
{"id": "HP:0008393", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital curved nail of fourth toe", "equivalent_identifiers": ["HP:0008393", "UMLS:C4024684"], "information_content": 100.0}
{"id": "MONDO:0008540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extensor tendons of finger anomalies", "equivalent_identifiers": ["MONDO:0008540", "OMIM:187390", "orphanet:3294", "UMLS:C1861237", "MESH:C566068", "medgen:348302"], "information_content": 100.0}
{"id": "HP:0001167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal finger morphology", "equivalent_identifiers": ["HP:0001167", "UMLS:C2674737"], "information_content": 55.1}
{"id": "MONDO:0032941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 27", "equivalent_identifiers": ["MONDO:0032941", "OMIM:618827", "UMLS:C5394215", "medgen:1719756"], "information_content": 100.0}
{"id": "MONDO:0011067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 12", "equivalent_identifiers": ["MONDO:0011067", "DOID:0110467", "OMIM:601386", "UMLS:C1832394", "MESH:C563327", "NCIT:C201586", "medgen:330455"], "information_content": 100.0}
{"id": "MONDO:0975957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature", "equivalent_identifiers": ["MONDO:0975957", "OMIM:621056", "UMLS:C5975557"], "information_content": 100.0}
{"id": "HP:0034697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous telangiectasia", "equivalent_identifiers": ["HP:0034697", "UMLS:C5848131"], "information_content": 100.0}
{"id": "HP:6001182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal epithelial edema", "equivalent_identifiers": ["HP:6001182"], "information_content": 100.0}
{"id": "MONDO:0015003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEPAN syndrome", "equivalent_identifiers": ["MONDO:0015003", "DOID:0081419", "OMIM:617282", "orphanet:508093", "UMLS:C4310634", "SNOMEDCT:1236805005", "medgen:934601"], "information_content": 100.0}
{"id": "MONDO:0008744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alar cartilages hypoplasia-coloboma-telecanthus syndrome", "equivalent_identifiers": ["MONDO:0008744", "OMIM:203000", "orphanet:2007", "UMLS:C1859964", "MESH:C535967", "medgen:348504"], "information_content": 100.0}
{"id": "MONDO:0011772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B4GALT1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011772", "DOID:0070256", "OMIM:607091", "orphanet:79332", "UMLS:C2931009", "MESH:C535753", "SNOMEDCT:725587007", "medgen:419310"], "information_content": 100.0}
{"id": "MONDO:0008123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omodysplasia 2", "equivalent_identifiers": ["MONDO:0008123", "DOID:0080845", "OMIM:164745", "orphanet:93328", "UMLS:C2750355", "MESH:C567664", "SNOMEDCT:725165009", "medgen:413823", "icd11.foundation:1237796148"], "information_content": 100.0}
{"id": "MONDO:0001196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyspareunia", "equivalent_identifiers": ["MONDO:0001196", "DOID:11120", "UMLS:C0154466", "UMLS:C1384606", "MESH:D004414", "MEDDRA:10009850", "MEDDRA:10013941", "MEDDRA:10013944", "MEDDRA:10013945", "MEDDRA:10033510", "MEDDRA:10037193", "NCIT:C2997", "SNOMEDCT:41021005", "SNOMEDCT:71315007", "medgen:509600", "ICD10:F52.6", "ICD9:302.76", "HP:0030016"], "information_content": 83.1}
{"id": "HP:0001076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glabellar hemangioma", "equivalent_identifiers": ["HP:0001076", "EFO:0009908", "UMLS:C1854408"], "information_content": 100.0}
{"id": "HP:0004573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior wedging of T11", "equivalent_identifiers": ["HP:0004573", "UMLS:C4021652"], "information_content": 100.0}
{"id": "HP:0004991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhizomelic arm shortening", "equivalent_identifiers": ["HP:0004991", "UMLS:C1969532"], "information_content": 100.0}
{"id": "MONDO:0008825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita-whistling face syndrome", "equivalent_identifiers": ["MONDO:0008825", "OMIM:208155", "orphanet:1150", "UMLS:C1859711", "MESH:C538401", "SNOMEDCT:720514008", "medgen:349231"], "information_content": 100.0}
{"id": "MONDO:0014202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 24", "equivalent_identifiers": ["MONDO:0014202", "DOID:0110628", "OMIM:615481", "UMLS:C3809634", "medgen:815964"], "information_content": 100.0}
{"id": "MONDO:0013987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 15", "equivalent_identifiers": ["MONDO:0013987", "DOID:0111491", "OMIM:614947", "orphanet:319524", "UMLS:C4706313", "SNOMEDCT:763203009", "medgen:1646555"], "information_content": 100.0}
{"id": "MONDO:0015007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia, intellectual disability, nystagmus, and obesity", "equivalent_identifiers": ["MONDO:0015007", "OMIM:617296", "orphanet:521390", "UMLS:C4284592", "SNOMEDCT:1260134001", "medgen:924883"], "information_content": 100.0}
{"id": "MONDO:0007531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "electroencephalographic peculiarity: fronto-precentral beta wave groups", "equivalent_identifiers": ["MONDO:0007531", "OMIM:130300", "UMLS:C1851756", "medgen:343646"], "information_content": 100.0}
{"id": "MONDO:0014522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal dystrophy and obesity", "equivalent_identifiers": ["MONDO:0014522", "OMIM:616188", "UMLS:C4015424", "medgen:863861"], "information_content": 100.0}
{"id": "MONDO:0008367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "red cell phospholipid defect with hemolysis", "equivalent_identifiers": ["MONDO:0008367", "OMIM:179700", "UMLS:C1867339", "MESH:C535298", "medgen:357960"], "information_content": 100.0}
{"id": "MONDO:0011342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SLC35A1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011342", "DOID:0070258", "OMIM:603585", "orphanet:238459", "UMLS:C1970344", "MESH:C567040", "SNOMEDCT:723624008", "medgen:370234"], "information_content": 100.0}
{"id": "HP:0031156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased platelet glycoprotein Ib", "equivalent_identifiers": ["HP:0031156", "UMLS:C4477009"], "information_content": 100.0}
{"id": "MONDO:0013427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 31B", "equivalent_identifiers": ["MONDO:0013427", "DOID:0111944", "OMIM:613796", "orphanet:391311", "UMLS:C3151088", "medgen:462438"], "information_content": 100.0}
{"id": "MONDO:0024525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi renotubular syndrome 1", "equivalent_identifiers": ["MONDO:0024525", "DOID:0080757", "OMIM:134600", "UMLS:C4551503", "medgen:1635492"], "information_content": 100.0}
{"id": "HP:0034359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired renal tubular reabsorption of phosphate", "equivalent_identifiers": ["HP:0034359", "UMLS:C5706190"], "information_content": 100.0}
{"id": "MONDO:0012912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudopseudohypoparathyroidism", "equivalent_identifiers": ["MONDO:0012912", "DOID:4183", "OMIM:612463", "orphanet:79445", "UMLS:C0033835", "MESH:D011556", "MEDDRA:10090584", "NCIT:C129722", "SNOMEDCT:237659007", "medgen:10995", "icd11.foundation:245649135"], "information_content": 100.0}
{"id": "MONDO:0007930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bernard-Soulier syndrome, type A2, autosomal dominant", "equivalent_identifiers": ["MONDO:0007930", "DOID:0111059", "OMIM:153670", "UMLS:C3277076", "medgen:478706"], "information_content": 100.0}
{"id": "HP:0031128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired collagen-related peptide-induced platelet aggregation", "equivalent_identifiers": ["HP:0031128", "UMLS:C4476987"], "information_content": 100.0}
{"id": "MONDO:0011065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hunter-McAlpine craniosynostosis", "equivalent_identifiers": ["MONDO:0011065", "OMIM:601379", "orphanet:97340", "UMLS:C1832408", "MESH:C536072", "SNOMEDCT:721227001", "medgen:321949", "icd11.foundation:1445975694"], "information_content": 100.0}
{"id": "MONDO:0010637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis follicularis spinulosa decalvans, X-linked", "equivalent_identifiers": ["MONDO:0010637", "DOID:0080754", "OMIM:308800", "UMLS:C3887525", "MESH:C536159", "medgen:854384"], "information_content": 100.0}
{"id": "MONDO:0009908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pterin-4 alpha-carbinolamine dehydratase 1 deficiency", "equivalent_identifiers": ["MONDO:0009908", "DOID:0081131", "OMIM:264070", "orphanet:1578", "UMLS:C1291595", "UMLS:C1849700", "MESH:C538382", "SNOMEDCT:124646004", "medgen:337890"], "information_content": 100.0}
{"id": "HP:0008297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient hyperphenylalaninemia", "equivalent_identifiers": ["HP:0008297", "UMLS:C0268464", "SNOMEDCT:28575006"], "information_content": 100.0}
{"id": "HP:0033594", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 7-biopterin level", "equivalent_identifiers": ["HP:0033594", "UMLS:C5539706"], "information_content": 100.0}
{"id": "MONDO:0012190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 7, with nephropathy and deafness", "equivalent_identifiers": ["MONDO:0012190", "OMIM:609057", "orphanet:300333", "UMLS:C1836823", "MESH:C563798", "medgen:323004"], "information_content": 100.0}
{"id": "MONDO:0007552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pretibial dystrophic epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0007552", "DOID:0080988", "OMIM:131850", "orphanet:79410", "UMLS:C0432321", "MESH:C535494", "SNOMEDCT:67653003", "medgen:98154", "HP:0012221"], "information_content": 100.0}
{"id": "HP:0033485", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular basement membrane disruption", "equivalent_identifiers": ["HP:0033485", "UMLS:C5539635"], "information_content": 100.0}
{"id": "MONDO:0030999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism", "equivalent_identifiers": ["MONDO:0030999", "OMIM:619244", "UMLS:C5543228", "medgen:1786662"], "information_content": 100.0}
{"id": "MONDO:0010532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile-onset X-linked spinal muscular atrophy", "equivalent_identifiers": ["MONDO:0010532", "DOID:0111827", "OMIM:301830", "orphanet:1145", "UMLS:C1844934", "MESH:C535380", "SNOMEDCT:719836007", "medgen:337123"], "information_content": 100.0}
{"id": "MONDO:0859190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities", "equivalent_identifiers": ["MONDO:0859190", "OMIM:619522", "UMLS:C5561984", "medgen:1794194"], "information_content": 100.0}
{"id": "HP:0010490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the palmar creases", "equivalent_identifiers": ["HP:0010490", "UMLS:C0221199", "SNOMEDCT:205557000"], "information_content": 83.6}
{"id": "HP:0033737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Grade III vesicoureteral reflux", "equivalent_identifiers": ["HP:0033737", "NCIT:C98663", "UMLS:C3274338"], "information_content": 100.0}
{"id": "HP:0031923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hematocolpos", "equivalent_identifiers": ["HP:0031923", "UMLS:C0018934", "MEDDRA:10054818", "MEDDRA:10055161", "SNOMEDCT:26228000", "MESH:D006399"], "information_content": 100.0}
{"id": "MONDO:0009515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Norum disease", "equivalent_identifiers": ["MONDO:0009515", "DOID:1391", "OMIM:245900", "orphanet:79293", "UMLS:C0023195", "MESH:D007863", "MEDDRA:10077917", "MEDDRA:10077928", "NCIT:C84813", "SNOMEDCT:1264565005", "SNOMEDCT:238091006", "medgen:9698", "icd11.foundation:1848131619"], "information_content": 100.0}
{"id": "HP:0025433", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased lecithin cholesterol acyl transferase level", "equivalent_identifiers": ["HP:0025433", "UMLS:C4476773"], "information_content": 100.0}
{"id": "MONDO:0007574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 34", "equivalent_identifiers": ["MONDO:0007574", "DOID:0050981", "OMIM:133190", "orphanet:1955", "UMLS:C1851481", "MESH:C535738", "SNOMEDCT:719255000", "medgen:338703"], "information_content": 100.0}
{"id": "MONDO:0009842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelger-Huet-like anomaly and episodic fever with abdominal pain", "equivalent_identifiers": ["MONDO:0009842", "DOID:0061077", "OMIM:260570", "UMLS:C1850054", "MESH:C564899", "medgen:376692"], "information_content": 100.0}
{"id": "MONDO:0010580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "equivalent_identifiers": ["MONDO:0010580", "DOID:0090110", "OMIM:304790", "orphanet:37042", "UMLS:C0342288", "UMLS:C1844663", "MESH:C580192", "MEDDRA:10080631", "MEDDRA:10080636", "NCIT:C131009", "SNOMEDCT:237618001", "SNOMEDCT:724276006", "medgen:83339", "ICD10:E31.0"], "information_content": 100.0}
{"id": "HP:6000473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased FOXP3-expressing T cell count", "equivalent_identifiers": ["HP:6000473", "UMLS:C5937241"], "information_content": 100.0}
{"id": "HP:0032169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe infection", "equivalent_identifiers": ["HP:0032169", "UMLS:C5139167"], "information_content": 79.0}
{"id": "MONDO:0013414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 44", "equivalent_identifiers": ["MONDO:0013414", "DOID:0110394", "OMIM:613769", "UMLS:C3151068", "medgen:462418"], "information_content": 100.0}
{"id": "MONDO:0012452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 65", "equivalent_identifiers": ["MONDO:0012452", "DOID:0110516", "OMIM:610248", "UMLS:C1853248", "MESH:C565211", "medgen:344004"], "information_content": 100.0}
{"id": "MONDO:0011902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1F", "equivalent_identifiers": ["MONDO:0011902", "DOID:0110149", "OMIM:607734", "orphanet:101085", "UMLS:C1843164", "MESH:C537987", "SNOMEDCT:719980006", "medgen:334337", "icd11.foundation:1160290076"], "information_content": 100.0}
{"id": "HP:0007233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clusters of axonal regeneration", "equivalent_identifiers": ["HP:0007233", "UMLS:C1843169"], "information_content": 100.0}
{"id": "MONDO:0060502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "equivalent_identifiers": ["MONDO:0060502", "OMIM:617527", "orphanet:521426", "UMLS:C4479631", "SNOMEDCT:1217367007", "medgen:1380260"], "information_content": 100.0}
{"id": "HP:0004485", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cessation of head growth", "equivalent_identifiers": ["HP:0004485", "UMLS:C4025319"], "information_content": 100.0}
{"id": "HP:0034964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide cavum septum pellucidum", "equivalent_identifiers": ["HP:0034964", "UMLS:C5826802"], "information_content": 100.0}
{"id": "MONDO:0011041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia with natal teeth, Turnpenny type", "equivalent_identifiers": ["MONDO:0011041", "OMIM:601345", "orphanet:69083", "UMLS:C1832444", "MESH:C563347", "SNOMEDCT:715576000", "medgen:371331", "icd11.foundation:612149960"], "information_content": 100.0}
{"id": "HP:0100038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slow-growing scalp hair", "equivalent_identifiers": ["HP:0100038", "UMLS:C4022383"], "information_content": 100.0}
{"id": "HP:0007387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic sweat glands", "equivalent_identifiers": ["HP:0007387", "UMLS:C1832455"], "information_content": 95.4}
{"id": "HP:0007515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic pilosebaceous units", "equivalent_identifiers": ["HP:0007515", "UMLS:C1832454"], "information_content": 100.0}
{"id": "MONDO:0976227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-tooth disease, axonal, type 2JJ", "equivalent_identifiers": ["MONDO:0976227", "DOID:0051043", "OMIM:621095", "UMLS:C5975629"], "information_content": 100.0}
{"id": "HP:0012515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip flexor weakness", "equivalent_identifiers": ["HP:0012515", "UMLS:C3279725"], "information_content": 100.0}
{"id": "MONDO:0014132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 3", "equivalent_identifiers": ["MONDO:0014132", "DOID:0080135", "OMIM:615330", "orphanet:363424", "UMLS:C3809165", "NCIT:C202608", "SNOMEDCT:1208620009", "medgen:815495"], "information_content": 100.0}
{"id": "MONDO:0008860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-aminoisobutyric acid, urinary excretion of", "equivalent_identifiers": ["MONDO:0008860", "OMIM:210100", "UMLS:C1859518", "MESH:C565904", "SNOMEDCT:21529005", "medgen:347169", "HP:0032480"], "information_content": 100.0}
{"id": "MONDO:0009226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrochondrogenesis 1", "equivalent_identifiers": ["MONDO:0009226", "DOID:0080672", "OMIM:228520", "UMLS:C3278138", "medgen:479768"], "information_content": 100.0}
{"id": "HP:0008451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior vertebral hypoplasia", "equivalent_identifiers": ["HP:0008451", "UMLS:C1856780"], "information_content": 100.0}
{"id": "HP:0005622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad long bones", "equivalent_identifiers": ["HP:0005622", "UMLS:C4021630"], "information_content": 72.6}
{"id": "HP:0005476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely patent sagittal suture", "equivalent_identifiers": ["HP:0005476", "UMLS:C1856779"], "information_content": 100.0}
{"id": "HP:0005442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely patent coronal suture", "equivalent_identifiers": ["HP:0005442", "UMLS:C1856778"], "information_content": 100.0}
{"id": "MONDO:0011336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis 4", "equivalent_identifiers": ["MONDO:0011336", "DOID:0110924", "OMIM:603552", "UMLS:C1863728", "MESH:C537252", "NCIT:C203461", "medgen:350245"], "information_content": 92.8}
{"id": "MONDO:0013091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease IXc", "equivalent_identifiers": ["MONDO:0013091", "DOID:0111043", "OMIM:613027", "UMLS:C2751643", "MESH:C567809", "medgen:442778"], "information_content": 100.0}
{"id": "MONDO:0013881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome", "equivalent_identifiers": ["MONDO:0013881", "OMIM:614748", "orphanet:306504", "UMLS:C4518785", "SNOMEDCT:733453005", "medgen:1388385"], "information_content": 100.0}
{"id": "HP:0005972", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory acidosis", "equivalent_identifiers": ["HP:0005972", "NCIT:C50728", "UMLS:C0001127", "MEDDRA:10000495", "MEDDRA:10038660", "MEDDRA:10038661", "SNOMEDCT:12326000", "MESH:D000142"], "information_content": 92.8}
{"id": "MONDO:0014001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1K", "equivalent_identifiers": ["MONDO:0014001", "DOID:0110837", "OMIM:614990", "UMLS:C3539124", "medgen:761332"], "information_content": 100.0}
{"id": "MONDO:0012705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 3", "equivalent_identifiers": ["MONDO:0012705", "DOID:0060750", "OMIM:611630", "UMLS:C1968848", "MESH:C566903", "SNOMEDCT:770405003", "medgen:368898"], "information_content": 100.0}
{"id": "MONDO:0014984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung disease, immunodeficiency, and chromosome breakage syndrome;", "equivalent_identifiers": ["MONDO:0014984", "OMIM:617241", "UMLS:C4310653", "SNOMEDCT:1354861009", "medgen:934620"], "information_content": 100.0}
{"id": "HP:0011133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased sensitivity to ionizing radiation", "equivalent_identifiers": ["HP:0011133", "UMLS:C4021850"], "information_content": 100.0}
{"id": "MONDO:0009297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial renal glucosuria", "equivalent_identifiers": ["MONDO:0009297", "DOID:0070613", "DOID:9432", "OMIM:233100", "orphanet:69076", "EFO:1001151", "UMLS:C0017980", "UMLS:C3245525", "MESH:D006030", "MEDDRA:10018479", "MEDDRA:10038457", "MEDDRA:10073689", "SNOMEDCT:226309007", "SNOMEDCT:267430007", "medgen:757652", "icd11.foundation:381783069", "ICD9:271.4"], "information_content": 100.0}
{"id": "MONDO:0012019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, Kimberley type", "equivalent_identifiers": ["MONDO:0012019", "DOID:0112282", "OMIM:608361", "orphanet:93283", "UMLS:C1842149", "MESH:C564252", "SNOMEDCT:719203001", "medgen:330777", "icd11.foundation:485470320"], "information_content": 100.0}
{"id": "MONDO:0025690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, epilepsy, and diabetes syndrome 2", "equivalent_identifiers": ["MONDO:0025690", "OMIM:619278", "UMLS:C5543294", "medgen:1782107"], "information_content": 100.0}
{"id": "MONDO:0007797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism-deafness-renal disease syndrome", "equivalent_identifiers": ["MONDO:0007797", "DOID:0060878", "OMIM:146255", "orphanet:2237", "UMLS:C1840333", "MESH:C537907", "MEDDRA:10075281", "MEDDRA:10087425", "NCIT:C130983", "SNOMEDCT:724282009", "medgen:374443"], "information_content": 100.0}
{"id": "MONDO:0019644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal dysplasia, unilateral", "equivalent_identifiers": ["MONDO:0019644", "orphanet:93172", "UMLS:C0431697", "SNOMEDCT:204951002", "medgen:140916", "HP:0008718"], "information_content": 100.0}
{"id": "HP:0000538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudopapilledema", "equivalent_identifiers": ["HP:0000538", "UMLS:C0155300", "MEDDRA:10037140", "MEDDRA:10037141", "SNOMEDCT:57138009", "MESH:C562401"], "information_content": 100.0}
{"id": "MONDO:0007033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abducens nerve palsy", "equivalent_identifiers": ["MONDO:0007033", "DOID:10865", "OMIM:100200", "UMLS:C4551519", "MEDDRA:10000112", "MEDDRA:10040763", "MEDDRA:10047640", "MEDDRA:10047641", "NCIT:C27592", "medgen:1645218", "icd11.foundation:2004845959"], "information_content": 100.0}
{"id": "MONDO:0014992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 8", "equivalent_identifiers": ["MONDO:0014992", "DOID:0112233", "OMIM:617255", "UMLS:C4310646", "medgen:934613"], "information_content": 100.0}
{"id": "MONDO:0008474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda, autosomal dominant", "equivalent_identifiers": ["MONDO:0008474", "DOID:0112285", "OMIM:184100", "UMLS:C1866717", "MESH:C566658", "medgen:355785"], "information_content": 100.0}
{"id": "MONDO:0020602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simpson-Golabi-Behmel syndrome type 1", "equivalent_identifiers": ["MONDO:0020602", "DOID:0060248", "OMIM:312870", "UMLS:C0796154", "MEDDRA:10085696", "MEDDRA:10085698", "NCIT:C118787", "medgen:162917"], "information_content": 100.0}
{"id": "HP:0009101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Submucous cleft lip", "equivalent_identifiers": ["HP:0009101", "UMLS:C1839277"], "information_content": 100.0}
{"id": "HP:0003517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birth length greater than 97th percentile", "equivalent_identifiers": ["HP:0003517", "UMLS:C1839271"], "information_content": 100.0}
{"id": "HP:0006176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Two carpal ossification centers present at birth", "equivalent_identifiers": ["HP:0006176", "UMLS:C1839285"], "information_content": 100.0}
{"id": "HP:0003185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short greater sciatic notch", "equivalent_identifiers": ["HP:0003185", "UMLS:C1866689"], "information_content": 100.0}
{"id": "HP:0005580", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of renal pelvis", "equivalent_identifiers": ["HP:0005580", "UMLS:C1839269"], "information_content": 100.0}
{"id": "MONDO:0011335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia with multiple dislocations", "equivalent_identifiers": ["MONDO:0011335", "DOID:0112199", "OMIM:603546", "orphanet:93360", "UMLS:C1863732", "MESH:C535784", "NCIT:C125419", "SNOMEDCT:766820007", "medgen:350960"], "information_content": 100.0}
{"id": "HP:0100531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wind-swept deformity of the knees", "equivalent_identifiers": ["HP:0100531", "UMLS:C4022030"], "information_content": 100.0}
{"id": "HP:0005092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Streaky metaphyseal sclerosis", "equivalent_identifiers": ["HP:0005092", "UMLS:C4025253"], "information_content": 100.0}
{"id": "HP:0012297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender proximal phalanx of finger", "equivalent_identifiers": ["HP:0012297", "UMLS:C4022961"], "information_content": 100.0}
{"id": "HP:0012299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long distal phalanx of finger", "equivalent_identifiers": ["HP:0012299", "UMLS:C4021865"], "information_content": 100.0}
{"id": "HP:0012296", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender distal phalanx of finger", "equivalent_identifiers": ["HP:0012296", "UMLS:C4022962"], "information_content": 100.0}
{"id": "HP:0008457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caudal interpedicular narrowing", "equivalent_identifiers": ["HP:0008457", "UMLS:C1863734"], "information_content": 95.4}
{"id": "HP:0006454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed patellar ossification", "equivalent_identifiers": ["HP:0006454", "UMLS:C4021597", "UMLS:C4280446"], "information_content": 100.0}
{"id": "HP:0006016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed phalangeal epiphyseal ossification", "equivalent_identifiers": ["HP:0006016", "UMLS:C4021609"], "information_content": 100.0}
{"id": "HP:0008755", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngotracheomalacia", "equivalent_identifiers": ["HP:0008755", "UMLS:C0585984", "SNOMEDCT:308232009"], "information_content": 100.0}
{"id": "HP:0005008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large joint dislocations", "equivalent_identifiers": ["HP:0005008", "UMLS:C4025260"], "information_content": 100.0}
{"id": "HP:0008819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow femoral neck", "equivalent_identifiers": ["HP:0008819", "UMLS:C1863739"], "information_content": 100.0}
{"id": "HP:0005121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior scalloping of vertebral bodies", "equivalent_identifiers": ["HP:0005121", "UMLS:C1850196"], "information_content": 100.0}
{"id": "HP:0006127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long proximal phalanx of finger", "equivalent_identifiers": ["HP:0006127", "UMLS:C4025090"], "information_content": 100.0}
{"id": "MONDO:0007870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "labia minora, incomplete adhesion of", "equivalent_identifiers": ["MONDO:0007870", "OMIM:149600", "UMLS:C1835613", "medgen:372090"], "information_content": 100.0}
{"id": "MONDO:0100348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities", "equivalent_identifiers": ["MONDO:0100348", "OMIM:619091", "UMLS:C5436783", "medgen:1731507"], "information_content": 100.0}
{"id": "MONDO:0020705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neural tube defects, susceptibility to", "equivalent_identifiers": ["MONDO:0020705", "OMIM:182940", "UMLS:C3891448", "medgen:856010"], "information_content": 100.0}
{"id": "HP:0008482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetry of spinal facet joints", "equivalent_identifiers": ["HP:0008482", "UMLS:C4024669"], "information_content": 100.0}
{"id": "MONDO:0957961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte/zygote/embryo maturation arrest 21", "equivalent_identifiers": ["MONDO:0957961", "OMIM:620610", "UMLS:C5882722", "medgen:1845812"], "information_content": 100.0}
{"id": "MONDO:0014379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "equivalent_identifiers": ["MONDO:0014379", "DOID:0070058", "OMIM:615873", "orphanet:404448", "UMLS:C4014538", "MESH:C000730394", "MEDDRA:10083856", "MEDDRA:10083872", "NCIT:C160662", "SNOMEDCT:766824003", "medgen:862975"], "information_content": 100.0}
{"id": "HP:0011327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior plagiocephaly", "equivalent_identifiers": ["HP:0011327", "UMLS:C4021160"], "information_content": 100.0}
{"id": "HP:0012420", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meconium stained amniotic fluid", "equivalent_identifiers": ["HP:0012420", "NCIT:C113155", "UMLS:C0426209", "MEDDRA:10051133", "SNOMEDCT:168092006", "SNOMEDCT:249135009"], "information_content": 100.0}
{"id": "MONDO:0009591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachromatic leukodystrophy, juvenile form", "equivalent_identifiers": ["MONDO:0009591", "OMIM:250100", "orphanet:309263", "UMLS:C0751276", "UMLS:C1855255", "UMLS:C2713319", "MESH:C565403", "SNOMEDCT:44359008", "medgen:155528"], "information_content": 92.8}
{"id": "HP:0005609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gallbladder dysfunction", "equivalent_identifiers": ["HP:0005609", "UMLS:C0232769", "SNOMEDCT:51047007"], "information_content": 100.0}
{"id": "HP:0034687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired cerebroside sulfate hydrolysis", "equivalent_identifiers": ["HP:0034687", "UMLS:C5826589"], "information_content": 100.0}
{"id": "HP:0034863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced leukocyte arylsulfatase A activity", "equivalent_identifiers": ["HP:0034863", "UMLS:C5826718"], "information_content": 100.0}
{"id": "HP:0007133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive peripheral neuropathy", "equivalent_identifiers": ["HP:0007133", "UMLS:C1859178"], "information_content": 100.0}
{"id": "MONDO:0009691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mycosis fungoides", "equivalent_identifiers": ["MONDO:0009691", "DOID:8691", "OMIM:254400", "orphanet:2584", "EFO:1001051", "UMLS:C0026948", "MESH:D009182", "MEDDRA:10028483", "MEDDRA:10028484", "MEDDRA:10028500", "NCIT:C3246", "SNOMEDCT:118618005", "SNOMEDCT:90120004", "medgen:7771", "icd11.foundation:901411509", "ICD10:C84.0", "ICD9:202.1"], "information_content": 81.3}
{"id": "HP:0200035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin plaque", "equivalent_identifiers": ["HP:0200035", "NCIT:C39624", "UMLS:C0241148", "MEDDRA:10067723", "SNOMEDCT:128177006", "SNOMEDCT:276322001"], "information_content": 72.0}
{"id": "MONDO:0054763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 7", "equivalent_identifiers": ["MONDO:0054763", "OMIM:617916", "UMLS:C4693583", "medgen:1647672"], "information_content": 100.0}
{"id": "MONDO:0012136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine palmitoyl transferase II deficiency, neonatal form", "equivalent_identifiers": ["MONDO:0012136", "OMIM:608836", "orphanet:228308", "UMLS:C1833518", "MESH:C563463", "medgen:318896"], "information_content": 100.0}
{"id": "HP:0011936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased plasma total carnitine", "equivalent_identifiers": ["HP:0011936", "UMLS:C4023117"], "information_content": 100.0}
{"id": "HP:0008293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long-chain dicarboxylic aciduria", "equivalent_identifiers": ["HP:0008293", "UMLS:C1837273"], "information_content": 100.0}
{"id": "HP:0006799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basal ganglia cysts", "equivalent_identifiers": ["HP:0006799", "UMLS:C1837251"], "information_content": 100.0}
{"id": "HP:0032066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum bicarbonate concentration", "equivalent_identifiers": ["HP:0032066", "UMLS:C4732833"], "information_content": 100.0}
{"id": "HP:0007023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antenatal intracerebral hemorrhage", "equivalent_identifiers": ["HP:0007023", "UMLS:C1837247"], "information_content": 100.0}
{"id": "HP:0008315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased plasma free carnitine", "equivalent_identifiers": ["HP:0008315", "UMLS:C4015009"], "information_content": 100.0}
{"id": "HP:0006559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic calcification", "equivalent_identifiers": ["HP:0006559", "UMLS:C1696466", "MEDDRA:10065274"], "information_content": 100.0}
{"id": "HP:0011309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapered toe", "equivalent_identifiers": ["HP:0011309", "UMLS:C4021167"], "information_content": 100.0}
{"id": "HP:0006561", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lipid accumulation in hepatocytes", "equivalent_identifiers": ["HP:0006561", "UMLS:C1837257"], "information_content": 82.6}
{"id": "MONDO:0008097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevus sebaceous", "equivalent_identifiers": ["MONDO:0008097", "DOID:0111530", "OMIM:163200", "orphanet:2612", "EFO:1001841", "UMLS:C3854181", "UMLS:C4552097", "MESH:D054000", "MEDDRA:10029386", "MEDDRA:10029387", "MEDDRA:10039785", "MEDDRA:10062806", "MEDDRA:10073898", "NCIT:C4678", "SNOMEDCT: 274897005", "SNOMEDCT:52298009", "SNOMEDCT:707136009", "medgen:1646345", "HP:0010815"], "information_content": 95.4}
{"id": "HP:0001780", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal toe morphology", "equivalent_identifiers": ["HP:0001780", "UMLS:C2674738"], "information_content": 56.2}
{"id": "HP:0010817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear nevus sebaceous", "equivalent_identifiers": ["HP:0010817"], "information_content": 100.0}
{"id": "MONDO:0011150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acroosteolysis-keloid-like lesions-premature aging syndrome", "equivalent_identifiers": ["MONDO:0011150", "OMIM:601812", "orphanet:363665", "UMLS:C1866182", "MESH:C536653", "SNOMEDCT:776417008", "medgen:400936"], "information_content": 100.0}
{"id": "HP:0007922", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermyelinated retinal nerve fibers", "equivalent_identifiers": ["HP:0007922", "UMLS:C1849151"], "information_content": 100.0}
{"id": "HP:0010539", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin calvarium", "equivalent_identifiers": ["HP:0010539", "UMLS:C1856231", "UMLS:C4280379"], "information_content": 100.0}
{"id": "MONDO:0014308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 6", "equivalent_identifiers": ["MONDO:0014308", "DOID:0060749", "OMIM:615697", "UMLS:C3810320", "medgen:816650"], "information_content": 100.0}
{"id": "MONDO:0008153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoma cutis", "equivalent_identifiers": ["MONDO:0008153", "DOID:0111535", "OMIM:166350", "orphanet:2762", "UMLS:C0334041", "MESH:C562735", "MEDDRA:10048902", "MEDDRA:10048982", "NCIT:C132062", "SNOMEDCT:404074003", "SNOMEDCT:71304002", "SNOMEDCT:719271000", "medgen:137714", "icd11.foundation:1107209347", "HP:0025027"], "information_content": 100.0}
{"id": "HP:0011987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic ossification in muscle tissue", "equivalent_identifiers": ["HP:0011987", "UMLS:C4023096"], "information_content": 100.0}
{"id": "MONDO:0008358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radial ray hypoplasia-choanal atresia syndrome", "equivalent_identifiers": ["MONDO:0008358", "OMIM:179270", "orphanet:3026", "UMLS:C2931464", "MESH:C537280", "SNOMEDCT:232373003", "medgen:419083"], "information_content": 100.0}
{"id": "MONDO:0014903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures, benign familial infantile, 5", "equivalent_identifiers": ["MONDO:0014903", "DOID:0081118", "OMIM:617080", "UMLS:C4310728", "medgen:934695"], "information_content": 100.0}
{"id": "MONDO:0030957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 103", "equivalent_identifiers": ["MONDO:0030957", "DOID:0070389", "OMIM:619913", "UMLS:C5677002", "medgen:1809962"], "information_content": 100.0}
{"id": "HP:0031491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Continuous spike and waves during slow sleep", "equivalent_identifiers": ["HP:0031491", "UMLS:C3806403"], "information_content": 100.0}
{"id": "HP:0032670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tonic status epilepticus", "equivalent_identifiers": ["HP:0032670", "UMLS:C5398026", "MEDDRA:10086018"], "information_content": 100.0}
{"id": "MONDO:0008633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muckle-Wells syndrome", "equivalent_identifiers": ["MONDO:0008633", "DOID:0050854", "OMIM:191900", "orphanet:575", "UMLS:C0268390", "UMLS:C1304205", "MEDDRA:10064569", "NCIT:C119054", "SNOMEDCT:15123008", "SNOMEDCT:402417009", "medgen:120634", "icd11.foundation:1983358487", "ICD10:M04.2"], "information_content": 100.0}
{"id": "HP:0031191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep dermal perivascular inflammatory infiltrate", "equivalent_identifiers": ["HP:0031191", "UMLS:C4531289"], "information_content": 100.0}
{"id": "MONDO:0011239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colobomatous macrophthalmia-microcornea syndrome", "equivalent_identifiers": ["MONDO:0011239", "OMIM:602499", "orphanet:468672", "UMLS:C1865286", "MESH:C566533", "SNOMEDCT:1179296003", "medgen:400728"], "information_content": 100.0}
{"id": "MONDO:0000733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cornea plana", "equivalent_identifiers": ["MONDO:0000733", "DOID:0060287", "OMIM.PS:121400", "orphanet:53691", "UMLS:C0344529", "SNOMEDCT:204145006", "medgen:576329", "icd11.foundation:262157734", "ICD10:Q13.4", "HP:0007720"], "information_content": 92.8}
{"id": "MONDO:0009189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia type 4", "equivalent_identifiers": ["MONDO:0009189", "DOID:0070300", "OMIM:226900", "orphanet:93307", "UMLS:C1847593", "MESH:C535504", "SNOMEDCT:715672007", "medgen:376164", "icd11.foundation:1927114777"], "information_content": 100.0}
{"id": "HP:0031174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double-layered patella", "equivalent_identifiers": ["HP:0031174", "UMLS:C1856923"], "information_content": 100.0}
{"id": "MONDO:0013021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sterile multifocal osteomyelitis with periostitis and pustulosis", "equivalent_identifiers": ["MONDO:0013021", "OMIM:612852", "orphanet:210115", "UMLS:C2748507", "MESH:C557815", "MEDDRA:10072224", "MEDDRA:10079457", "NCIT:C119056", "SNOMEDCT:773702002", "medgen:411230"], "information_content": 100.0}
{"id": "MONDO:0004934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periostitis", "equivalent_identifiers": ["MONDO:0004934", "DOID:9957", "UMLS:C0031111", "MESH:D010522", "MEDDRA:10034550", "MEDDRA:10034551", "NCIT:C13184", "SNOMEDCT:41910004", "medgen:45816", "icd11.foundation:505688542", "HP:0040165"], "information_content": 87.2}
{"id": "MONDO:0012662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 2D", "equivalent_identifiers": ["MONDO:0012662", "DOID:0110840", "OMIM:611383", "UMLS:C1568249", "medgen:292821"], "information_content": 100.0}
{"id": "MONDO:0014303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 64", "equivalent_identifiers": ["MONDO:0014303", "DOID:0110815", "OMIM:615683", "orphanet:401810", "UMLS:C3810289", "SNOMEDCT:726609005", "medgen:816619"], "information_content": 100.0}
{"id": "MONDO:0014298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 5q12 deletion syndrome", "equivalent_identifiers": ["MONDO:0014298", "DOID:0060421", "OMIM:615668", "orphanet:439822", "UMLS:C3810282", "medgen:816612"], "information_content": 100.0}
{"id": "HP:0045082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased body mass index", "equivalent_identifiers": ["HP:0045082", "UMLS:C0231255", "MEDDRA:10005895", "MEDDRA:10005898", "SNOMEDCT:467861000124107", "SNOMEDCT:6497000"], "information_content": 100.0}
{"id": "MONDO:0009824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hyperoxaluria type 2", "equivalent_identifiers": ["MONDO:0009824", "DOID:0111671", "OMIM:260000", "orphanet:93599", "UMLS:C0268165", "MESH:C536415", "NCIT:C123213", "SNOMEDCT:40951006", "medgen:120616", "icd11.foundation:347920969"], "information_content": 100.0}
{"id": "HP:6000670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary L-glycerate level", "equivalent_identifiers": ["HP:6000670", "UMLS:C5937411"], "information_content": 100.0}
{"id": "HP:0011280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of urine calcium concentration", "equivalent_identifiers": ["HP:0011280", "UMLS:C4023434"], "information_content": 85.5}
{"id": "HP:6000638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic glyoxylate reductase activity", "equivalent_identifiers": ["HP:6000638", "UMLS:C5937388"], "information_content": 100.0}
{"id": "MONDO:0013810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG6-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013810", "DOID:0070264", "OMIM:614576", "orphanet:464443", "UMLS:C3553230", "SNOMEDCT:1220574003", "medgen:766144"], "information_content": 100.0}
{"id": "MONDO:0011482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1I", "equivalent_identifiers": ["MONDO:0011482", "DOID:0110431", "OMIM:604765", "UMLS:C1858154", "MESH:C565752", "medgen:387998"], "information_content": 100.0}
{"id": "MONDO:0033638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 8", "equivalent_identifiers": ["MONDO:0033638", "DOID:0070495", "OMIM:619052", "UMLS:C5436689", "medgen:1765544"], "information_content": 100.0}
{"id": "MONDO:0014604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 21", "equivalent_identifiers": ["MONDO:0014604", "DOID:0111251", "OMIM:616361", "UMLS:C4225353", "medgen:903105"], "information_content": 100.0}
{"id": "MONDO:0012221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-N-acetylgalactosaminidase deficiency type 1", "equivalent_identifiers": ["MONDO:0012221", "DOID:0112318", "OMIM:609241", "orphanet:79279", "UMLS:C1836544", "MESH:C536631", "SNOMEDCT:879937000", "medgen:373113", "icd11.foundation:1058486825"], "information_content": 100.0}
{"id": "HP:0003461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary O-linked sialopeptides", "equivalent_identifiers": ["HP:0003461", "UMLS:C1836533"], "information_content": 100.0}
{"id": "HP:4000202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue alpha-N-acetylgalactosaminidase activity", "equivalent_identifiers": ["HP:4000202", "UMLS:C5872951"], "information_content": 100.0}
{"id": "MONDO:0009922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudouridinuria and mental defect", "equivalent_identifiers": ["MONDO:0009922", "OMIM:264500", "UMLS:C1849648", "MESH:C564864", "medgen:376629"], "information_content": 100.0}
{"id": "MONDO:0014624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brown syndrome", "equivalent_identifiers": ["MONDO:0014624", "DOID:10235", "OMIM:616407", "UMLS:C0155339", "MEDDRA:10006490", "SNOMEDCT:35929003", "medgen:102332", "ICD10:H50.61", "ICD9:378.61", "HP:0031622"], "information_content": 100.0}
{"id": "MONDO:0054680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia, multiple, 7", "equivalent_identifiers": ["MONDO:0054680", "DOID:0070302", "OMIM:617719", "orphanet:647676", "UMLS:C4540251", "medgen:1620874"], "information_content": 100.0}
{"id": "MONDO:0009247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontofacionasal dysplasia", "equivalent_identifiers": ["MONDO:0009247", "OMIM:229400", "orphanet:1791", "UMLS:C2931720", "MESH:C538063", "SNOMEDCT:716022002", "medgen:444125"], "information_content": 100.0}
{"id": "HP:0007835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "S-shaped palpebral fissures", "equivalent_identifiers": ["HP:0007835", "UMLS:C4024787"], "information_content": 100.0}
{"id": "HP:0005466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the frontal bone", "equivalent_identifiers": ["HP:0005466", "UMLS:C1845147", "UMLS:C4280483", "UMLS:C4280484"], "information_content": 95.4}
{"id": "HP:0007708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent inner eyelashes", "equivalent_identifiers": ["HP:0007708", "UMLS:C4024812"], "information_content": 100.0}
{"id": "MONDO:0013626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 14, pustular", "equivalent_identifiers": ["MONDO:0013626", "DOID:0080474", "OMIM:614204", "orphanet:163931", "orphanet:404546", "UMLS:C0392439", "UMLS:C4759670", "MEDDRA:10000595", "MEDDRA:10079451", "MEDDRA:10079452", "NCIT:C119057", "SNOMEDCT:784339002", "SNOMEDCT:83839005", "medgen:581114", "ICD10:L40.1"], "information_content": 100.0}
{"id": "MONDO:0005771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geographic tongue", "equivalent_identifiers": ["MONDO:0005771", "DOID:1455", "EFO:0007283", "UMLS:C0017677", "MESH:D005929", "MEDDRA:10018201", "MEDDRA:10024519", "MEDDRA:10043957", "MEDDRA:10079071", "NCIT:C84588", "SNOMEDCT:59032001", "medgen:6619", "icd11.foundation:1460387786", "ICD10:K14.1", "ICD9:529.1", "HP:0025252"], "information_content": 100.0}
{"id": "MONDO:0011537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly-autism syndrome", "equivalent_identifiers": ["MONDO:0011537", "DOID:0060867", "OMIM:605309", "orphanet:210548", "UMLS:C1854416", "MESH:C565342", "medgen:381416"], "information_content": 100.0}
{"id": "HP:0004422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biparietal narrowing", "equivalent_identifiers": ["HP:0004422", "UMLS:C1854418", "UMLS:C4280532"], "information_content": 100.0}
{"id": "HP:0005490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postnatal macrocephaly", "equivalent_identifiers": ["HP:0005490", "UMLS:C1854417"], "information_content": 100.0}
{"id": "HP:0031447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Penile freckling", "equivalent_identifiers": ["HP:0031447", "UMLS:C4531112"], "information_content": 100.0}
{"id": "MONDO:0012293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 23", "equivalent_identifiers": ["MONDO:0012293", "DOID:0110481", "OMIM:609533", "UMLS:C1836027", "MESH:C563705", "medgen:332110"], "information_content": 100.0}
{"id": "MONDO:0030606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 1", "equivalent_identifiers": ["MONDO:0030606", "OMIM:619720", "UMLS:C5676905", "medgen:1801103"], "information_content": 100.0}
{"id": "HP:0002562", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-set nipples", "equivalent_identifiers": ["HP:0002562", "UMLS:C1836933"], "information_content": 100.0}
{"id": "MONDO:0014628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 6", "equivalent_identifiers": ["MONDO:0014628", "OMIM:616413", "UMLS:C4225335", "medgen:901404"], "information_content": 100.0}
{"id": "HP:0031814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palilalia", "equivalent_identifiers": ["HP:0031814", "UMLS:C0392185", "MEDDRA:10038583", "MEDDRA:10051817", "SNOMEDCT:25107009"], "information_content": 100.0}
{"id": "MONDO:0008002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mirror movements 1", "equivalent_identifiers": ["MONDO:0008002", "OMIM:157600", "UMLS:C1834870", "medgen:320461"], "information_content": 100.0}
{"id": "MONDO:0011806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteofibrous dysplasia", "equivalent_identifiers": ["MONDO:0011806", "OMIM:607278", "orphanet:488265", "UMLS:C1709353", "UMLS:C1836723", "UMLS:C4085248", "MESH:C563276", "MESH:C563787", "NCIT:C53970", "SNOMEDCT:1234828008", "SNOMEDCT:1290733009", "medgen:895748"], "information_content": 100.0}
{"id": "MONDO:0020780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy and hearing loss 2", "equivalent_identifiers": ["MONDO:0020780", "OMIM:618358", "UMLS:C5193051", "medgen:1675017"], "information_content": 100.0}
{"id": "HP:0001757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High-frequency sensorineural hearing impairment", "equivalent_identifiers": ["HP:0001757", "UMLS:C4021775"], "information_content": 100.0}
{"id": "MONDO:0033635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 3", "equivalent_identifiers": ["MONDO:0033635", "DOID:0070492", "OMIM:619046", "UMLS:C5436682", "medgen:1764816"], "information_content": 100.0}
{"id": "MONDO:0008494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryohydrocytosis", "equivalent_identifiers": ["MONDO:0008494", "OMIM:185020", "orphanet:398088", "UMLS:C1861453", "MESH:C535827", "medgen:396137"], "information_content": 100.0}
{"id": "HP:4000194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudohyperkalemia", "equivalent_identifiers": ["HP:4000194", "UMLS:C0948309", "MEDDRA:10052185", "MEDDRA:10054584"], "information_content": 100.0}
{"id": "MONDO:0012226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile seizures, familial, 5", "equivalent_identifiers": ["MONDO:0012226", "DOID:0111306", "OMIM:609255", "UMLS:C1836507", "MESH:C563762", "medgen:322934"], "information_content": 100.0}
{"id": "MONDO:0007921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "yellow nail syndrome", "equivalent_identifiers": ["MONDO:0007921", "DOID:0050468", "OMIM:153300", "orphanet:662", "EFO:1001452", "UMLS:C0221348", "MESH:D056684", "MEDDRA:10048244", "NCIT:C85238", "SNOMEDCT:400211001", "medgen:113164", "icd11.foundation:47812081", "ICD10:L60.5"], "information_content": 100.0}
{"id": "MONDO:0011801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1", "equivalent_identifiers": ["MONDO:0011801", "DOID:0090115", "OMIM:607250", "orphanet:94124", "UMLS:C4759870", "MESH:C537313", "SNOMEDCT:765091006", "medgen:1683470", "ICD10:G60.2"], "information_content": 100.0}
{"id": "MONDO:0009657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MPS III C", "equivalent_identifiers": ["MONDO:0009657", "DOID:0111393", "OMIM:252930", "orphanet:79271", "UMLS:C0086649", "NCIT:C84899", "SNOMEDCT:75238000", "medgen:39477", "icd11.foundation:1755913480", "ICD10:E76.22"], "information_content": 100.0}
{"id": "MONDO:0007979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachondromatosis", "equivalent_identifiers": ["MONDO:0007979", "DOID:0111512", "OMIM:156250", "orphanet:2499", "UMLS:C0410530", "MESH:C562938", "SNOMEDCT:205481009", "medgen:98377", "icd11.foundation:1342578560"], "information_content": 100.0}
{"id": "HP:0005655", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple digital exostoses", "equivalent_identifiers": ["HP:0005655", "UMLS:C4025162"], "information_content": 100.0}
{"id": "MONDO:0014293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 58", "equivalent_identifiers": ["MONDO:0014293", "DOID:0110582", "OMIM:615654", "UMLS:C3888210", "NCIT:C201585", "medgen:854817"], "information_content": 100.0}
{"id": "MONDO:0013187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor XIII, A subunit, deficiency of", "equivalent_identifiers": ["MONDO:0013187", "OMIM:613225", "UMLS:C2750514", "MESH:C567691", "SNOMEDCT:439455002", "medgen:442497", "HP:0040233"], "information_content": 100.0}
{"id": "MONDO:0044776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 10", "equivalent_identifiers": ["MONDO:0044776", "DOID:0080867", "OMIM:612885", "UMLS:C2752067", "UMLS:C4225402", "medgen:898849"], "information_content": 100.0}
{"id": "MONDO:0011538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontoocular syndrome", "equivalent_identifiers": ["MONDO:0011538", "OMIM:605321", "UMLS:C1854405", "MESH:C565340", "medgen:344278"], "information_content": 100.0}
{"id": "MONDO:0030669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastrointestinal defects and immunodeficiency syndrome 2", "equivalent_identifiers": ["MONDO:0030669", "OMIM:619708", "UMLS:C5676901", "medgen:1811526"], "information_content": 100.0}
{"id": "OMIM:620189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION", "equivalent_identifiers": ["OMIM:620189", "UMLS:C5774284"]}
{"id": "MONDO:0002974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical cancer", "equivalent_identifiers": ["MONDO:0002974", "DOID:4362", "OMIM:603956", "UMLS:C0007847", "UMLS:C4048328", "MEDDRA:10008229", "MEDDRA:10008230", "MEDDRA:10025831", "MEDDRA:10025837", "NCIT:C9311", "SNOMEDCT:363354003", "medgen:890252", "ICD10:C53", "ICD9:180", "HP:0030079"], "information_content": 63.8}
{"id": "MONDO:0000334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multinodular goiter", "equivalent_identifiers": ["MONDO:0000334", "DOID:0050489", "OMIM.PS:138800", "UMLS:C0342208", "MEDDRA:10075389", "MEDDRA:10075390", "NCIT:C131438", "SNOMEDCT:237570007", "medgen:87431", "HP:0005987"], "information_content": 90.9}
{"id": "MONDO:0032736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression", "equivalent_identifiers": ["MONDO:0032736", "OMIM:618416", "EFO:0010255", "UMLS:C5193083", "medgen:1681269"], "information_content": 100.0}
{"id": "MONDO:0033009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 5", "equivalent_identifiers": ["MONDO:0033009", "DOID:0080247", "OMIM:617731", "UMLS:C4540274", "medgen:1617227"], "information_content": 100.0}
{"id": "MONDO:0032729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 70", "equivalent_identifiers": ["MONDO:0032729", "DOID:0081231", "OMIM:618402", "UMLS:C5193077", "medgen:1679317"], "information_content": 100.0}
{"id": "MONDO:0012073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ribose-5-P isomerase deficiency", "equivalent_identifiers": ["MONDO:0012073", "OMIM:608611", "orphanet:440706", "UMLS:C1291609", "MESH:C563212", "SNOMEDCT:124667004", "medgen:220946"], "information_content": 100.0}
{"id": "HP:0410059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of D-threitol in urine", "equivalent_identifiers": ["HP:0410059", "UMLS:C4703625"], "information_content": 100.0}
{"id": "HP:0410057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of D-threitol in plasma", "equivalent_identifiers": ["HP:0410057", "UMLS:C4703623"], "information_content": 100.0}
{"id": "HP:0410058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF D-threitol concentration", "equivalent_identifiers": ["HP:0410058", "UMLS:C4703624"], "information_content": 100.0}
{"id": "HP:0410055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of erythritol in urine", "equivalent_identifiers": ["HP:0410055", "UMLS:C4703621"], "information_content": 100.0}
{"id": "HP:0410056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF erythritol concentration", "equivalent_identifiers": ["HP:0410056", "UMLS:C4703622"], "information_content": 100.0}
{"id": "HP:0410075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF xylitol concentration", "equivalent_identifiers": ["HP:0410075", "UMLS:C4703641"], "information_content": 100.0}
{"id": "HP:0410073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF ribose concentration", "equivalent_identifiers": ["HP:0410073", "UMLS:C4703639"], "information_content": 100.0}
{"id": "HP:0410074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of xylitol in urine", "equivalent_identifiers": ["HP:0410074", "UMLS:C4703640"], "information_content": 100.0}
{"id": "HP:0410071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF ribitol concentration", "equivalent_identifiers": ["HP:0410071", "UMLS:C4703637"], "information_content": 100.0}
{"id": "HP:0410072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of ribose in urine", "equivalent_identifiers": ["HP:0410072", "UMLS:C4703638"], "information_content": 100.0}
{"id": "HP:0410070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of ribitol in urine", "equivalent_identifiers": ["HP:0410070", "UMLS:C4703636"], "information_content": 100.0}
{"id": "HP:0025550", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating ribitol concentration", "equivalent_identifiers": ["HP:0025550", "UMLS:C4531026"], "information_content": 100.0}
{"id": "HP:0034894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated brain polyol compounds by MRS", "equivalent_identifiers": ["HP:0034894", "UMLS:C5826744"], "information_content": 100.0}
{"id": "MONDO:0971005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class II deficiency 1", "equivalent_identifiers": ["MONDO:0971005", "OMIM:209920", "UMLS:C1859534", "UMLS:C2931418", "MESH:C565910", "MEDDRA:10086669", "NCIT:C171268", "SNOMEDCT:191002000"], "information_content": 100.0}
{"id": "HP:0005386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent protozoan infections", "equivalent_identifiers": ["HP:0005386", "UMLS:C4025202"], "information_content": 95.4}
{"id": "HP:0007041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic lymphocytic meningitis", "equivalent_identifiers": ["HP:0007041", "UMLS:C0393441", "SNOMEDCT:230154004"], "information_content": 100.0}
{"id": "MONDO:0006011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "viral hepatitis", "equivalent_identifiers": ["MONDO:0006011", "DOID:1884", "EFO:0004196", "UMLS:C0019195", "UMLS:C0042721", "MESH:D006525", "MEDDRA:10019715", "MEDDRA:10019799", "MEDDRA:10019800", "MEDDRA:10047446", "MEDDRA:10047459", "MEDDRA:10047489", "NCIT:C35124", "SNOMEDCT:3738000", "medgen:22652", "icd11.foundation:985510409", "HP:0006562"], "information_content": 76.2}
{"id": "MONDO:0013650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 10", "equivalent_identifiers": ["MONDO:0013650", "DOID:0110707", "OMIM:614238", "UMLS:C3280253", "medgen:481883"], "information_content": 100.0}
{"id": "MONDO:0009001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular coloboma-cleft palate-hallux valgus syndrome", "equivalent_identifiers": ["MONDO:0009001", "OMIM:216800", "orphanet:91494", "UMLS:C1857619", "UMLS:C4302525", "MESH:C565686", "SNOMEDCT:722463001", "medgen:341812"], "information_content": 100.0}
{"id": "HP:0009184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the distal interphalangeal joint of the 5th finger", "equivalent_identifiers": ["HP:0009184", "UMLS:C4024551"], "information_content": 100.0}
{"id": "MONDO:0012978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 11", "equivalent_identifiers": ["MONDO:0012978", "DOID:0110602", "OMIM:612649", "UMLS:C2675229", "MESH:C567212", "medgen:390741"], "information_content": 100.0}
{"id": "HP:0012260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal central microtubular pair morphology of respiratory motile cilia", "equivalent_identifiers": ["HP:0012260", "UMLS:C4022985"], "information_content": 100.0}
{"id": "MONDO:0007509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant", "equivalent_identifiers": ["MONDO:0007509", "DOID:0111663", "OMIM:129490", "UMLS:C3888065", "medgen:854747"], "information_content": 100.0}
{"id": "MONDO:0009931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary atresia-intact ventricular septum syndrome", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009931", "OMIM:265150", "orphanet:1208", "UMLS:C0344975", "MESH:C562832", "NCIT:C99032", "SNOMEDCT:253590009", "medgen:87491", "icd11.foundation:131289265"], "information_content": 100.0}
{"id": "OMIM:610738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neutropenia, Severe Congenital, Autosomal Recessive 3", "equivalent_identifiers": ["OMIM:610738", "UMLS:C5235141", "MESH:C537592", "NCIT:C166153", "SNOMEDCT:770942003"], "information_content": 100.0}
{"id": "MONDO:0100092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonus, familial, 2", "equivalent_identifiers": ["MONDO:0100092", "OMIM:618364", "UMLS:C5193056", "medgen:1683864"], "information_content": 100.0}
{"id": "MONDO:0014393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 4", "equivalent_identifiers": ["MONDO:0014393", "DOID:0070209", "OMIM:615907", "UMLS:C4747769", "medgen:1651756"], "information_content": 100.0}
{"id": "OMIM:267800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole", "equivalent_identifiers": ["OMIM:267800", "UMLS:C1849407", "MESH:C564844"]}
{"id": "HP:0007937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticular pigmentary degeneration", "equivalent_identifiers": ["HP:0007937", "UMLS:C4024769"], "information_content": 100.0}
{"id": "MONDO:0009798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primrose syndrome", "equivalent_identifiers": ["MONDO:0009798", "OMIM:259050", "orphanet:3042", "UMLS:C0796121", "MESH:C536420", "SNOMEDCT:726709001", "medgen:162911"], "information_content": 100.0}
{"id": "HP:0040309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased size of the mandible", "equivalent_identifiers": ["HP:0040309"], "information_content": 92.8}
{"id": "HP:0008541", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superiorly displaced ears", "equivalent_identifiers": ["HP:0008541", "UMLS:C1850190"], "information_content": 100.0}
{"id": "MONDO:0009321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hallux varus-preaxial polysyndactyly syndrome", "equivalent_identifiers": ["MONDO:0009321", "OMIM:234280", "orphanet:2110", "UMLS:C1856197", "MESH:C536885", "SNOMEDCT:771180005", "medgen:341088"], "information_content": 100.0}
{"id": "MONDO:0008955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrooculofacioskeletal syndrome 1", "equivalent_identifiers": ["MONDO:0008955", "DOID:0080911", "OMIM:214150", "UMLS:C0220722", "MESH:C562434", "NCIT:C173085", "medgen:66320"], "information_content": 100.0}
{"id": "HP:0004681", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot crease", "equivalent_identifiers": ["HP:0004681", "UMLS:C1859223", "UMLS:C4280508"], "information_content": 100.0}
{"id": "HP:0008125", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Second metatarsal posteriorly placed", "equivalent_identifiers": ["HP:0008125", "UMLS:C1859224"], "information_content": 100.0}
{"id": "MONDO:0030523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 12", "equivalent_identifiers": ["MONDO:0030523", "OMIM:619697", "UMLS:C5562063", "medgen:1794273"], "information_content": 100.0}
{"id": "HP:0033335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal preimplantation embryonic development", "equivalent_identifiers": ["HP:0033335", "UMLS:C5539523"], "information_content": 89.4}
{"id": "MONDO:0060640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "equivalent_identifiers": ["MONDO:0060640", "DOID:0060934", "OMIM:617862", "UMLS:C4693390", "medgen:1637443"], "information_content": 100.0}
{"id": "MONDO:0010388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked", "equivalent_identifiers": ["MONDO:0010388", "OMIM:300643", "UMLS:C1845070", "MESH:C564467", "medgen:337150"], "information_content": 100.0}
{"id": "MONDO:0010253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine, familial typical, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0010253", "OMIM:300125", "UMLS:C1848066", "medgen:341144"], "information_content": 100.0}
{"id": "MONDO:0013250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 85", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013250", "DOID:0110531", "OMIM:613392", "UMLS:C3160740", "medgen:463629"], "information_content": 100.0}
{"id": "MONDO:0009025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apparent mineralocorticoid excess", "equivalent_identifiers": ["MONDO:0009025", "DOID:4367", "OMIM:218030", "orphanet:320", "EFO:1000817", "UMLS:C0342488", "UMLS:C5575027", "MESH:C537422", "MESH:D043204", "MEDDRA:10080229", "NCIT:C123231", "NCIT:C131083", "SNOMEDCT:237770005", "SNOMEDCT:703256004", "medgen:90983", "icd11.foundation:1737310323"], "information_content": 100.0}
{"id": "MONDO:0007471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Doyne honeycomb retinal dystrophy", "equivalent_identifiers": ["MONDO:0007471", "DOID:0060745", "OMIM:126600", "orphanet:75376", "UMLS:C1832174", "MESH:C535602", "SNOMEDCT:193411004", "medgen:321900"], "information_content": 100.0}
{"id": "MONDO:0010697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia, external, and myopia", "equivalent_identifiers": ["MONDO:0010697", "OMIM:311000", "UMLS:C1839577", "MESH:C564087", "medgen:326916"], "information_content": 100.0}
{"id": "MONDO:0001303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abnormal pupillary function", "equivalent_identifiers": ["MONDO:0001303", "DOID:11518", "UMLS:C0155376", "UMLS:C0917967", "SNOMEDCT:72124005", "medgen:214629", "ICD10:H57.09", "ICD9:379.49", "HP:0007686"], "information_content": 83.6}
{"id": "MONDO:0030809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 72", "equivalent_identifiers": ["MONDO:0030809", "DOID:0070571", "OMIM:619867", "UMLS:C5676980", "medgen:1803118"], "information_content": 100.0}
{"id": "MONDO:0013046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to muscle beta-enolase deficiency", "equivalent_identifiers": ["MONDO:0013046", "OMIM:612932", "orphanet:99849", "UMLS:C2752027", "MESH:C567861", "medgen:442873", "icd11.foundation:821809975"], "information_content": 100.0}
{"id": "HP:0034633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle enolase activity", "equivalent_identifiers": ["HP:0034633", "UMLS:C5826543"], "information_content": 100.0}
{"id": "MONDO:0014040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 8", "equivalent_identifiers": ["MONDO:0014040", "DOID:0110940", "OMIM:615085", "UMLS:C3554478", "NCIT:C150556", "medgen:767392"], "information_content": 100.0}
{"id": "MONDO:0013044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome with thrombomodulin anomaly", "equivalent_identifiers": ["MONDO:0013044", "OMIM:612926", "UMLS:C2752036", "medgen:414541"], "information_content": 100.0}
{"id": "MONDO:0010789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELAS syndrome", "equivalent_identifiers": ["MONDO:0010789", "DOID:3687", "OMIM:540000", "orphanet:550", "UMLS:C0162671", "MESH:D017241", "MEDDRA:10053872", "MEDDRA:10067602", "NCIT:C84885", "SNOMEDCT:39925003", "medgen:56485", "ICD10:E88.41"], "information_content": 84.2}
{"id": "MONDO:0011533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "temtamy preaxial brachydactyly syndrome", "equivalent_identifiers": ["MONDO:0011533", "DOID:0050814", "OMIM:605282", "orphanet:363417", "UMLS:C1854466", "MESH:C536958", "SNOMEDCT:777998000", "medgen:381425"], "information_content": 100.0}
{"id": "MONDO:0008877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blue diaper syndrome", "equivalent_identifiers": ["MONDO:0008877", "OMIM:211000", "orphanet:94086", "UMLS:C0268478", "MESH:C536239", "SNOMEDCT:59531002", "medgen:75685", "icd11.foundation:292681007"], "information_content": 100.0}
{"id": "HP:0004365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating tryptophan concentration", "equivalent_identifiers": ["HP:0004365", "UMLS:C4025335"], "information_content": 92.8}
{"id": "HP:0006539", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bronchial cartilage hypoplasia", "equivalent_identifiers": ["HP:0006539", "UMLS:C4025024"], "information_content": 100.0}
{"id": "MONDO:0859249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parenti-mignot neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859249", "OMIM:619873", "UMLS:C5676984", "medgen:1808333"], "information_content": 100.0}
{"id": "MONDO:0054665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary adenoma 3, multiple types", "equivalent_identifiers": ["MONDO:0054665", "DOID:0112010", "OMIM:617686", "UMLS:C4540135", "medgen:1620824"], "information_content": 100.0}
{"id": "MONDO:0006068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACTH-producing pituitary gland adenoma", "equivalent_identifiers": ["MONDO:0006068", "EFO:1000066", "UMLS:C1306214", "MEDDRA:10090077", "NCIT:C7462", "SNOMEDCT:21109002", "SNOMEDCT:254958004", "medgen:266291", "HP:0008291"], "information_content": 84.2}
{"id": "MONDO:0024539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroidal dystrophy, central areolar, 1", "equivalent_identifiers": ["MONDO:0024539", "OMIM:215500", "UMLS:C4551884", "medgen:1639900"], "information_content": 100.0}
{"id": "MONDO:0009782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia totalis with ptosis and miosis", "equivalent_identifiers": ["MONDO:0009782", "OMIM:258400", "UMLS:C1850314", "MESH:C564927", "medgen:342471"], "information_content": 100.0}
{"id": "MONDO:0012799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 11", "equivalent_identifiers": ["MONDO:0012799", "DOID:0110317", "OMIM:612098", "UMLS:C2677506", "MESH:C567419", "NCIT:C188990", "medgen:436962"], "information_content": 100.0}
{"id": "HP:0031971", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subaortic ventricular septal bulge", "equivalent_identifiers": ["HP:0031971", "UMLS:C4732781"], "information_content": 100.0}
{"id": "MONDO:0013734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, syndromic 11", "equivalent_identifiers": ["MONDO:0013734", "DOID:0111804", "OMIM:614402", "UMLS:C3553077", "medgen:765991"], "information_content": 100.0}
{"id": "HP:0012687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of pineal gland", "equivalent_identifiers": ["HP:0012687", "UMLS:C3553078"], "information_content": 100.0}
{"id": "MONDO:0012791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "equivalent_identifiers": ["MONDO:0012791", "DOID:0080124", "OMIM:612073", "orphanet:1933", "UMLS:C2749864", "UMLS:C3501372", "UMLS:C3711369", "MESH:C567624", "MESH:C580473", "SNOMEDCT:1197052008", "medgen:413170"], "information_content": 100.0}
{"id": "HP:0002448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive encephalopathy", "equivalent_identifiers": ["HP:0002448", "UMLS:C1838578", "UMLS:C4280575"], "information_content": 100.0}
{"id": "HP:0008945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of ability to walk in early childhood", "equivalent_identifiers": ["HP:0008945", "UMLS:C1835993"], "information_content": 100.0}
{"id": "MONDO:0030858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 75", "equivalent_identifiers": ["MONDO:0030858", "OMIM:619126", "orphanet:664729", "UMLS:C5436860", "medgen:1741014"], "information_content": 100.0}
{"id": "HP:4000057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased FasL-mediated apoptosis", "equivalent_identifiers": ["HP:4000057", "UMLS:C5539888"], "information_content": 100.0}
{"id": "MONDO:0032621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 16", "equivalent_identifiers": ["MONDO:0032621", "DOID:0112096", "OMIM:618238", "UMLS:C4748785", "medgen:1648351"], "information_content": 100.0}
{"id": "MONDO:0012412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component 7 deficiency", "equivalent_identifiers": ["MONDO:0012412", "DOID:0060300", "OMIM:610102", "UMLS:C1864694", "MESH:C566443", "medgen:355270"], "information_content": 100.0}
{"id": "HP:0033058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement C7 concentration", "equivalent_identifiers": ["HP:0033058", "UMLS:C5421782"], "information_content": 100.0}
{"id": "MONDO:0024542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1", "equivalent_identifiers": ["MONDO:0024542", "DOID:0070556", "OMIM:224050", "UMLS:C4551552", "medgen:1639436"], "information_content": 100.0}
{"id": "MONDO:0012168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyslexia, susceptibility to, 8", "equivalent_identifiers": ["MONDO:0012168", "OMIM:608995", "UMLS:C1837009", "medgen:332344"], "information_content": 100.0}
{"id": "MONDO:0018381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteochondrosis", "equivalent_identifiers": ["MONDO:0018381", "DOID:8125", "orphanet:399319", "EFO:0008577", "UMLS:C0029429", "UMLS:C0158445", "UMLS:C0729346", "MESH:D055034", "MEDDRA:10015074", "MEDDRA:10015075", "MEDDRA:10023259", "MEDDRA:10031233", "MEDDRA:10031234", "NCIT:C34879", "NCIT:C35313", "SNOMEDCT:19579005", "medgen:18216", "icd11.foundation:1446309782", "ICD10:M92", "ICD10:M93.9", "ICD9:732.6", "HP:0040188"], "information_content": 83.1}
{"id": "MONDO:0007441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentinogenesis imperfecta type 2", "equivalent_identifiers": ["MONDO:0007441", "OMIM:125490", "orphanet:166260", "UMLS:C2973527", "SNOMEDCT:234969005", "medgen:424922", "icd11.foundation:314718507"], "information_content": 95.4}
{"id": "MONDO:0010010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schinzel-Giedion syndrome", "equivalent_identifiers": ["MONDO:0010010", "DOID:0070509", "OMIM:269150", "orphanet:798", "UMLS:C0265227", "MESH:C536632", "MEDDRA:10063540", "NCIT:C129308", "SNOMEDCT:18899000", "medgen:120517", "icd11.foundation:1542318431"], "information_content": 100.0}
{"id": "HP:0005495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metopic suture patent to nasal root", "equivalent_identifiers": ["HP:0005495", "UMLS:C4025189"], "information_content": 100.0}
{"id": "MONDO:0042727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sacrococcygeal teratoma", "equivalent_identifiers": ["MONDO:0042727", "orphanet:494421", "UMLS:C0559459", "MEDDRA:10059810", "NCIT:C99055", "SNOMEDCT:281561000", "medgen:107852", "HP:0030736"], "information_content": 89.4}
{"id": "HP:0006392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased density of long bones", "equivalent_identifiers": ["HP:0006392", "UMLS:C1849307"], "information_content": 83.6}
{"id": "HP:0032075", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splenopancreatic fusion", "equivalent_identifiers": ["HP:0032075", "UMLS:C5139112"], "information_content": 100.0}
{"id": "MONDO:0013712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "surfactant metabolism dysfunction, pulmonary, 5", "equivalent_identifiers": ["MONDO:0013712", "OMIM:614370", "UMLS:C3280574", "medgen:482204"], "information_content": 100.0}
{"id": "HP:0020050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-granulocyte-macrophage colony stimulating factor antibody positivity", "equivalent_identifiers": ["HP:0020050", "UMLS:C4703382"], "information_content": 100.0}
{"id": "MONDO:0010460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 17", "equivalent_identifiers": ["MONDO:0010460", "DOID:0060803", "OMIM:300858", "orphanet:289483", "UMLS:C3275460", "medgen:477091"], "information_content": 100.0}
{"id": "HP:0011733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of adrenal physiology", "equivalent_identifiers": ["HP:0011733", "UMLS:C4023212"], "information_content": 77.1}
{"id": "MONDO:0011625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 18", "equivalent_identifiers": ["MONDO:0011625", "DOID:0110549", "OMIM:606012", "UMLS:C1853760", "MESH:C565267", "medgen:340051"], "information_content": 100.0}
{"id": "MONDO:0030872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 8", "equivalent_identifiers": ["MONDO:0030872", "OMIM:619132", "UMLS:C5436881", "medgen:1728824"], "information_content": 100.0}
{"id": "MONDO:0014528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic atrial and intestinal dysrhythmia", "equivalent_identifiers": ["MONDO:0014528", "DOID:0060339", "OMIM:616201", "orphanet:435988", "UMLS:C4015474", "MEDDRA:10086078", "SNOMEDCT:720507006", "medgen:863911"], "information_content": 100.0}
{"id": "MONDO:0013740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal occipital encephalocele-skeletal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0013740", "OMIM:614416", "orphanet:293925", "UMLS:C3280729", "medgen:482359"], "information_content": 100.0}
{"id": "MONDO:0008566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid cancer, nonmedullary, 2", "equivalent_identifiers": ["MONDO:0008566", "OMIM:188470", "UMLS:C2931367", "UMLS:C4225426", "MESH:C572845", "MEDDRA:10016935", "medgen:904175"], "information_content": 100.0}
{"id": "MONDO:0017896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial nonmedullary thyroid carcinoma", "equivalent_identifiers": ["MONDO:0017896", "OMIM.PS:188550", "orphanet:319494", "UMLS:C3501843", "medgen:502247", "HP:0040198"], "information_content": 84.8}
{"id": "MONDO:0005034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid gland follicular carcinoma", "equivalent_identifiers": ["MONDO:0005034", "DOID:3962", "EFO:0000501", "UMLS:C0206682", "MESH:D018263", "MEDDRA:10089699", "NCIT:C8054", "SNOMEDCT:255028004", "SNOMEDCT:28173006", "SNOMEDCT:5257006", "medgen:64630", "icd11:2D10.0", "HP:0006731"], "information_content": 75.3}
{"id": "MONDO:0007236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiootorenal syndrome 1", "equivalent_identifiers": ["MONDO:0007236", "DOID:0111423", "OMIM:113650", "UMLS:C4551702", "medgen:1632634"], "information_content": 100.0}
{"id": "HP:0004742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal collecting system morphology", "equivalent_identifiers": ["HP:0004742", "UMLS:C1851303"], "information_content": 82.1}
{"id": "HP:0100274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gustatory lacrimation", "equivalent_identifiers": ["HP:0100274", "UMLS:C1862052"], "information_content": 100.0}
{"id": "HP:0002060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebral morphology", "equivalent_identifiers": ["HP:0002060", "UMLS:C4021762"], "information_content": 51.3}
{"id": "MONDO:0023069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enlarged vestibular aqueduct syndrome", "equivalent_identifiers": ["MONDO:0023069", "DOID:0050332", "UMLS:C1863752", "medgen:355050", "HP:0011387"], "information_content": 95.4}
{"id": "HP:0009798", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Euthyroid goiter", "equivalent_identifiers": ["HP:0009798", "UMLS:C0302859", "MEDDRA:10059187", "MEDDRA:10059190", "SNOMEDCT:32251000119106", "MESH:C562732"], "information_content": 95.4}
{"id": "MONDO:0012789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 16", "equivalent_identifiers": ["MONDO:0012789", "DOID:0090048", "OMIM:612067", "orphanet:210571", "UMLS:C2677567", "MESH:C567430", "NCIT:C168729", "SNOMEDCT:722435003", "medgen:436979", "icd11.foundation:548945828"], "information_content": 100.0}
{"id": "MONDO:0014544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 16", "equivalent_identifiers": ["MONDO:0014544", "DOID:0110345", "OMIM:616229", "UMLS:C4015610", "medgen:864047"], "information_content": 100.0}
{"id": "MONDO:0014935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontometaphyseal dysplasia 2", "equivalent_identifiers": ["MONDO:0014935", "DOID:0111787", "OMIM:617137", "UMLS:C4310697", "medgen:934664"], "information_content": 100.0}
{"id": "MONDO:0007289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 13 with adult I phenotype", "equivalent_identifiers": ["MONDO:0007289", "DOID:0110242", "OMIM:116700", "UMLS:C3805373", "medgen:811703"], "information_content": 100.0}
{"id": "MONDO:0032599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 15a", "equivalent_identifiers": ["MONDO:0032599", "DOID:0111960", "OMIM:618204", "UMLS:C4748694", "medgen:1648385"], "information_content": 100.0}
{"id": "MONDO:0008680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilms tumor 2", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0008680", "OMIM:194071", "UMLS:C1853800", "UMLS:C3887743", "MESH:C536853", "medgen:854562"], "information_content": 100.0}
{"id": "OMIM:112200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blue rubber bleb nevus syndrome", "equivalent_identifiers": ["OMIM:112200", "UMLS:C0346072", "MESH:C536240", "NCIT:C4486", "SNOMEDCT:254784002"], "information_content": 100.0}
{"id": "HP:0005520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic disseminated intravascular coagulation", "equivalent_identifiers": ["HP:0005520", "UMLS:C1862184"], "information_content": 100.0}
{"id": "HP:0007129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar medulloblastoma", "equivalent_identifiers": ["HP:0007129", "UMLS:C4024934"], "information_content": 100.0}
{"id": "MONDO:0008486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "steatocystoma multiplex-natal teeth syndrome", "equivalent_identifiers": ["MONDO:0008486", "OMIM:184510", "orphanet:3184", "UMLS:C1866650", "MESH:C537487", "medgen:356586"], "information_content": 100.0}
{"id": "MONDO:0010105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pineal Teratoma", "equivalent_identifiers": ["MONDO:0010105", "OMIM:273120", "UMLS:C1848902", "MESH:C537401", "medgen:336449"], "information_content": 100.0}
{"id": "MONDO:0013234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemic periodic paralysis, type 2", "equivalent_identifiers": ["MONDO:0013234", "OMIM:613345", "UMLS:C2750061", "MESH:C567635", "medgen:413748"], "information_content": 100.0}
{"id": "HP:0003752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic flaccid weakness", "equivalent_identifiers": ["HP:0003752", "UMLS:C4025572"], "information_content": 100.0}
{"id": "HP:0031352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chest tightness", "equivalent_identifiers": ["HP:0031352", "UMLS:C0232292", "UMLS:C0438716", "MEDDRA:10008486", "MEDDRA:10008492", "MEDDRA:10008493", "MEDDRA:10010780", "MEDDRA:10036643", "MEDDRA:10043854", "MEDDRA:10043858", "SNOMEDCT:23924001"], "information_content": 100.0}
{"id": "MONDO:0011208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant atrophic papulosis", "equivalent_identifiers": ["MONDO:0011208", "OMIM:602248", "orphanet:679", "UMLS:C0221011", "MESH:D054853", "MEDDRA:10064281", "MEDDRA:10064287", "MEDDRA:10083955", "NCIT:C84835", "SNOMEDCT:400171002", "medgen:113138", "icd11.foundation:792094526"], "information_content": 100.0}
{"id": "HP:0005244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal infarctions", "equivalent_identifiers": ["HP:0005244", "UMLS:C3152231"], "information_content": 100.0}
{"id": "MONDO:0007089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 2", "equivalent_identifiers": ["MONDO:0007089", "DOID:0110035", "OMIM:104310", "UMLS:C1863051", "MESH:C536595", "medgen:400197", "ICD10:G30"], "information_content": 100.0}
{"id": "MONDO:0016002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevo syndrome", "equivalent_identifiers": ["MONDO:0016002", "DOID:0080734", "OMIM:225400", "orphanet:1900", "UMLS:C0268342", "UMLS:C2936777", "UMLS:C4551497", "MESH:C536113", "MESH:C536198", "NCIT:C125700", "SNOMEDCT:25606004", "SNOMEDCT:718211004", "medgen:75672"], "information_content": 100.0}
{"id": "HP:0008458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive congenital scoliosis", "equivalent_identifiers": ["HP:0008458", "UMLS:C1857025"], "information_content": 100.0}
{"id": "HP:6000330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine", "equivalent_identifiers": ["HP:6000330", "UMLS:C5937126"], "information_content": 100.0}
{"id": "HP:0034006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio", "equivalent_identifiers": ["HP:0034006", "UMLS:C5558379"], "information_content": 100.0}
{"id": "HP:6000826", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000826", "UMLS:C5937547"], "information_content": 100.0}
{"id": "MONDO:0014929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 76", "equivalent_identifiers": ["MONDO:0014929", "DOID:0061103", "OMIM:617123", "UMLS:C4310704", "medgen:934671"], "information_content": 100.0}
{"id": "MONDO:0010673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "modifier, X-linked, for Neurofunctional defects", "equivalent_identifiers": ["MONDO:0010673", "OMIM:309840", "UMLS:C1839708", "MESH:C564098", "medgen:326945"], "information_content": 100.0}
{"id": "MONDO:0011816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lathosterolosis", "equivalent_identifiers": ["MONDO:0011816", "OMIM:607330", "orphanet:46059", "UMLS:C1846421", "MESH:C537880", "SNOMEDCT:719257008", "medgen:375885", "icd11.foundation:1816858203"], "information_content": 100.0}
{"id": "HP:0034936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating lathosterol concentration", "equivalent_identifiers": ["HP:0034936", "UMLS:C5826782"], "information_content": 100.0}
{"id": "HP:6000199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000199", "UMLS:C5937031"], "information_content": 100.0}
{"id": "HP:0003609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foam cells with lamellar inclusion bodies", "equivalent_identifiers": ["HP:0003609", "UMLS:C4025590"], "information_content": 100.0}
{"id": "HP:0005768", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-4 toe cutaneous syndactyly", "equivalent_identifiers": ["HP:0005768", "UMLS:C4021622"], "information_content": 100.0}
{"id": "HP:0200133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbosacral meningocele", "equivalent_identifiers": ["HP:0200133", "UMLS:C2675557"], "information_content": 100.0}
{"id": "MONDO:0859356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIy", "equivalent_identifiers": ["MONDO:0859356", "DOID:0051052", "OMIM:620200", "UMLS:C5774294", "medgen:1824067"], "information_content": 100.0}
{"id": "OMIM:300455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["OMIM:300455", "UMLS:C2749137", "MESH:C567595"]}
{"id": "MONDO:0100218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 5", "equivalent_identifiers": ["MONDO:0100218", "DOID:0080981", "OMIM:618947", "UMLS:C5436453", "medgen:1731112"], "information_content": 100.0}
{"id": "MONDO:0859180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bile acid malabsorption, primary, 2", "equivalent_identifiers": ["MONDO:0859180", "OMIM:619481", "UMLS:C5561962", "medgen:1794172"], "information_content": 100.0}
{"id": "HP:0034048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating chenodeoxycholic acid concentration", "equivalent_identifiers": ["HP:0034048", "UMLS:C5676649"], "information_content": 100.0}
{"id": "MONDO:0007016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin A deficiency", "equivalent_identifiers": ["MONDO:0007016", "EFO:1001237", "UMLS:C0042842", "UMLS:C5848160", "MESH:D014802", "MEDDRA:10046240", "MEDDRA:10047586", "NCIT:C85220", "SNOMEDCT:72000004", "medgen:22668", "icd11.foundation:435342452", "HP:0004905"], "information_content": 95.4}
{"id": "MONDO:0013439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 3", "equivalent_identifiers": ["MONDO:0013439", "DOID:0111070", "OMIM:613812", "orphanet:79302", "UMLS:C3151147", "UMLS:C4304715", "MESH:C566340", "SNOMEDCT:719454003", "medgen:462497"], "information_content": 100.0}
{"id": "MONDO:0008287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Greig Syndrome", "equivalent_identifiers": ["MONDO:0008287", "DOID:14761", "OMIM:175700", "orphanet:380", "UMLS:C0265306", "MESH:C537300", "MEDDRA:10053878", "NCIT:C35255", "SNOMEDCT:32985001", "medgen:120531", "icd11.foundation:606500237"], "information_content": 92.8}
{"id": "HP:0001459", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-3 toe syndactyly", "equivalent_identifiers": ["HP:0001459", "UMLS:C4025774"], "information_content": 92.8}
{"id": "HP:0002683", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal calvaria morphology", "equivalent_identifiers": ["HP:0002683", "UMLS:C4025691", "UMLS:C4280561"], "information_content": 65.6}
{"id": "HP:0010059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad hallux phalanx", "equivalent_identifiers": ["HP:0010059", "UMLS:C4021343"], "information_content": 92.8}
{"id": "MONDO:0007395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial-deafness-hand syndrome", "equivalent_identifiers": ["MONDO:0007395", "DOID:0111336", "OMIM:122880", "orphanet:1529", "UMLS:C1852510", "MESH:C536453", "SNOMEDCT:702362004", "medgen:377694", "icd11.foundation:1355682887"], "information_content": 100.0}
{"id": "MONDO:0026733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type", "equivalent_identifiers": ["MONDO:0026733", "OMIM:301039", "UMLS:C5393302", "medgen:1716269"], "information_content": 100.0}
{"id": "MONDO:0009519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "letterer-Siwe disease", "equivalent_identifiers": ["MONDO:0009519", "OMIM:246400", "UMLS:C0023381", "MEDDRA:10024265", "NCIT:C3160", "SNOMEDCT:118614007", "SNOMEDCT:128812005", "medgen:7311", "icd11.foundation:1827474596"], "information_content": 100.0}
{"id": "MONDO:0009439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 2", "equivalent_identifiers": ["MONDO:0009439", "DOID:0060710", "OMIM:242100", "UMLS:C3888093", "NCIT:C132827", "medgen:854762"], "information_content": 100.0}
{"id": "MONDO:0014120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "equivalent_identifiers": ["MONDO:0014120", "DOID:0111238", "OMIM:615287", "UMLS:C3809042", "medgen:815372"], "information_content": 100.0}
{"id": "HP:0100565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hydromyelia", "equivalent_identifiers": ["HP:0100565", "NCIT:C123638", "UMLS:C0152444", "MEDDRA:10020523", "SNOMEDCT:11197005", "SNOMEDCT:74740003"], "information_content": 100.0}
{"id": "MONDO:0013621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LAMB2-related infantile-onset nephrotic syndrome", "equivalent_identifiers": ["MONDO:0013621", "DOID:0080380", "OMIM:614199", "UMLS:C3280113", "MESH:C565405", "medgen:481743"], "information_content": 95.4}
{"id": "HP:0032582", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal interstitial foam cells", "equivalent_identifiers": ["HP:0032582", "UMLS:C5397607"], "information_content": 100.0}
{"id": "MONDO:0008160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerosis with ichthyosis and fractures", "equivalent_identifiers": ["MONDO:0008160", "OMIM:166740", "UMLS:C1833697", "MESH:C563483", "medgen:331568"], "information_content": 100.0}
{"id": "HP:0005791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical thickening of long bone diaphyses", "equivalent_identifiers": ["HP:0005791", "UMLS:C4025133"], "information_content": 100.0}
{"id": "MONDO:1040014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PPFIA3-related neurodevelopmental disorder", "equivalent_identifiers": ["MONDO:1040014", "OMIM:621122"], "information_content": 100.0}
{"id": "HP:0012071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating acylcarnitine concentration", "equivalent_identifiers": ["HP:0012071", "UMLS:C4020733", "UMLS:C4023058", "UMLS:C5139063"], "information_content": 74.5}
{"id": "HP:0010477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the bladder", "equivalent_identifiers": ["HP:0010477", "UMLS:C4023812"], "information_content": 100.0}
{"id": "HP:0032615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal diffusion weighted cerebral MRI morphology", "equivalent_identifiers": ["HP:0032615", "UMLS:C5397636"], "information_content": 100.0}
{"id": "MONDO:0010945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 17", "equivalent_identifiers": ["MONDO:0010945", "DOID:0110404", "OMIM:600852", "UMLS:C1833245", "MESH:C563437", "medgen:322153"], "information_content": 100.0}
{"id": "OMIM:603383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glaucoma 1, Open Angle, F", "equivalent_identifiers": ["OMIM:603383", "UMLS:C1863926", "MESH:C566383"]}
{"id": "MONDO:0009964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 9 with or without polydactyly", "equivalent_identifiers": ["MONDO:0009964", "DOID:0110097", "OMIM:266920", "orphanet:140969", "UMLS:C1849437", "MESH:C535463", "MEDDRA:10088468", "SNOMEDCT:254092004", "medgen:341455"], "information_content": 100.0}
{"id": "HP:0034281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phalangeal cone-shaped epiphyses", "equivalent_identifiers": ["HP:0034281", "UMLS:C5574949"], "information_content": 74.7}
{"id": "MONDO:0018840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated congenital hepatic fibrosis", "equivalent_identifiers": ["MONDO:0018840", "orphanet:485426", "UMLS:C0009714", "MESH:C562378", "MEDDRA:10056533", "NCIT:C97071", "SNOMEDCT:79607001", "medgen:40449", "HP:0002612"], "information_content": 100.0}
{"id": "MONDO:0018764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic primordial dwarfism due to RTTN deficiency", "equivalent_identifiers": ["MONDO:0018764", "OMIM:614833", "orphanet:468631", "UMLS:C3553831", "SNOMEDCT:1187195007", "medgen:766745"], "information_content": 95.4}
{"id": "MONDO:0011191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "capillary infantile hemangioma", "equivalent_identifiers": ["MONDO:0011191", "OMIM:602089", "UMLS:C1865871", "UMLS:C4317089", "MESH:C535860", "MEDDRA:10075378", "MEDDRA:10075379", "NCIT:C6645", "SNOMEDCT:1293125002", "medgen:355573"], "information_content": 89.4}
{"id": "MONDO:0008471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia congenita", "equivalent_identifiers": ["MONDO:0008471", "DOID:14789", "OMIM:183900", "orphanet:94068", "UMLS:C2745959", "MESH:C535788", "MEDDRA:10062920", "MEDDRA:10074799", "SNOMEDCT:278713008", "medgen:412530"], "information_content": 100.0}
{"id": "HP:0008857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal short-trunk short stature", "equivalent_identifiers": ["HP:0008857", "UMLS:C3149908"], "information_content": 100.0}
{"id": "HP:0008142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed calcaneal ossification", "equivalent_identifiers": ["HP:0008142", "UMLS:C4024728", "UMLS:C4280414"], "information_content": 100.0}
{"id": "MONDO:0008226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodontitis, aggressive 1", "equivalent_identifiers": ["MONDO:0008226", "DOID:1474", "OMIM:170650", "EFO:0006342", "UMLS:C0031106", "UMLS:C0266928", "UMLS:C4551681", "MESH:D010520", "SNOMEDCT:449908004", "medgen:1644602", "ICD10:K05.2"], "information_content": 100.0}
{"id": "HP:0000166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe periodontitis", "equivalent_identifiers": ["HP:0000166", "UMLS:C4025886"], "information_content": 100.0}
{"id": "MONDO:0001268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingival recession", "equivalent_identifiers": ["MONDO:0001268", "DOID:1134", "UMLS:C0017572", "UMLS:C0266916", "MESH:D005889", "MEDDRA:10018290", "MEDDRA:10065160", "MEDDRA:10087929", "NCIT:C82068", "SNOMEDCT:4356008", "SNOMEDCT:59898000", "medgen:6607", "icd11.foundation:1059404242", "ICD10:K06.0", "ICD10:K06.01", "ICD9:523.2", "ICD9:523.24", "HP:0030816"], "information_content": 100.0}
{"id": "MONDO:0859367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 96", "equivalent_identifiers": ["MONDO:0859367", "DOID:0061104", "OMIM:620228", "UMLS:C5774303", "medgen:1824076"], "information_content": 100.0}
{"id": "MONDO:0014122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibromatosis, infantile, 2", "equivalent_identifiers": ["MONDO:0014122", "OMIM:615293", "UMLS:C3809084", "NCIT:C176944", "medgen:815414"], "information_content": 92.8}
{"id": "MONDO:0014112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome 2", "equivalent_identifiers": ["MONDO:0014112", "DOID:0111461", "OMIM:615278", "UMLS:C3809005", "medgen:815335"], "information_content": 100.0}
{"id": "MONDO:0007710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial hemiatrophy", "equivalent_identifiers": ["MONDO:0007710", "DOID:1757", "OMIM:141300", "orphanet:1214", "UMLS:C0015458", "MESH:D005150", "MEDDRA:10053874", "MEDDRA:10053918", "MEDDRA:10073006", "NCIT:C116916", "NCIT:C84703", "SNOMEDCT:718224004", "SNOMEDCT:95834000", "medgen:8761", "HP:0011331"], "information_content": 100.0}
{"id": "MONDO:0010342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, X-linked 3", "equivalent_identifiers": ["MONDO:0010342", "OMIM:300496", "UMLS:C1845336", "medgen:335161"], "information_content": 100.0}
{"id": "MONDO:0010539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked mandibulofacial dysostosis", "equivalent_identifiers": ["MONDO:0010539", "OMIM:301950", "orphanet:1131", "UMLS:C1844918", "MESH:C537102", "SNOMEDCT:719813003", "medgen:375543", "icd11.foundation:135565112"], "information_content": 100.0}
{"id": "OMIM:193520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cafe-au-lait macules with pulmonary stenosis", "equivalent_identifiers": ["OMIM:193520", "UMLS:C0553586", "SNOMEDCT:403820003"]}
{"id": "MONDO:0859149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertriglyceridemia 2", "equivalent_identifiers": ["MONDO:0859149", "OMIM:619324", "UMLS:C5543398", "medgen:1783778"], "information_content": 100.0}
{"id": "MONDO:0007166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia with fasciculations", "equivalent_identifiers": ["MONDO:0007166", "OMIM:108700", "UMLS:C1862440", "MESH:C566246", "medgen:400052"], "information_content": 100.0}
{"id": "MONDO:0009351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homocarnosinosis", "equivalent_identifiers": ["MONDO:0009351", "DOID:0060177", "OMIM:236130", "UMLS:C0268632", "UMLS:C3495554", "MESH:C535328", "SNOMEDCT:61764000", "medgen:75703", "icd11.foundation:166229372"], "information_content": 95.4}
{"id": "MONDO:0007783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0007783", "DOID:0080990", "OMIM:145600", "EFO:0009071", "UMLS:C2930980", "MESH:C535694", "medgen:443948"], "information_content": 100.0}
{"id": "HP:0005967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mixed respiratory and metabolic acidosis", "equivalent_identifiers": ["HP:0005967", "UMLS:C1840372"], "information_content": 100.0}
{"id": "MONDO:0013823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 4B", "equivalent_identifiers": ["MONDO:0013823", "DOID:0110574", "OMIM:614614", "UMLS:C3281297", "medgen:482927"], "information_content": 100.0}
{"id": "MONDO:0700060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukemia, acute, X-linked", "equivalent_identifiers": ["MONDO:0700060", "OMIM:308960", "UMLS:C3501854", "medgen:502257"], "information_content": 100.0}
{"id": "MONDO:0032897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with hypotonia and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0032897", "OMIM:618748", "UMLS:C5231489", "medgen:1684709"], "information_content": 100.0}
{"id": "MONDO:0013607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monocytopenia with susceptibility to infections", "equivalent_identifiers": ["MONDO:0013607", "DOID:0111947", "OMIM:614172", "orphanet:228423", "UMLS:C3280030", "MESH:D000077428", "MEDDRA:10086705", "SNOMEDCT:778024005", "medgen:481660", "icd11.foundation:1077753382"], "information_content": 100.0}
{"id": "MONDO:0004643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloid leukemia", "equivalent_identifiers": ["MONDO:0004643", "DOID:8692", "UMLS:C0023470", "MESH:D007951", "MEDDRA:10024299", "MEDDRA:10024300", "MEDDRA:10024307", "MEDDRA:10024308", "MEDDRA:10024335", "MEDDRA:10024336", "MEDDRA:10024348", "MEDDRA:10024349", "MEDDRA:10028530", "MEDDRA:10028531", "MEDDRA:10028549", "MEDDRA:10028550", "MEDDRA:10028555", "MEDDRA:10028556", "MEDDRA:10029550", "MEDDRA:10029552", "MEDDRA:10046039", "MEDDRA:10046040", "NCIT:C3172", "SNOMEDCT:1163439000", "SNOMEDCT:128934006", "SNOMEDCT:188732008", "SNOMEDCT:37810007", "medgen:7320", "ICD10:C92", "ICD9:205", "HP:0012324"], "information_content": 60.5}
{"id": "MONDO:0022394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical intraepithelial neoplasia", "equivalent_identifiers": ["MONDO:0022394", "UMLS:C0206708", "MEDDRA:10049703", "MEDDRA:10056576", "NCIT:C3782", "SNOMEDCT:285636001", "medgen:60214", "HP:0032242"], "information_content": 80.9}
{"id": "MONDO:0012602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 24", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012602", "DOID:0110482", "OMIM:611022", "UMLS:C1970239", "MESH:C567027", "medgen:370208"], "information_content": 100.0}
{"id": "MONDO:0032900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements", "equivalent_identifiers": ["MONDO:0032900", "OMIM:618760", "UMLS:C5231491", "medgen:1684874"], "information_content": 100.0}
{"id": "MONDO:0014099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 8", "equivalent_identifiers": ["MONDO:0014099", "DOID:0080389", "OMIM:615244", "UMLS:C3808953", "medgen:815283"], "information_content": 100.0}
{"id": "MONDO:0010175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van Bogaert-Hozay syndrome", "equivalent_identifiers": ["MONDO:0010175", "OMIM:277150", "UMLS:C1848598", "MESH:C536526", "medgen:341263"], "information_content": 100.0}
{"id": "MONDO:0014227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cole disease", "equivalent_identifiers": ["MONDO:0014227", "OMIM:615522", "orphanet:324561", "UMLS:C3809781", "SNOMEDCT:711154007", "medgen:816111"], "information_content": 100.0}
{"id": "HP:0020073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypopigmented macule", "equivalent_identifiers": ["HP:0020073", "UMLS:C2047793"], "information_content": 90.9}
{"id": "HP:0010766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic calcification", "equivalent_identifiers": ["HP:0010766", "UMLS:C3806226"], "information_content": 66.3}
{"id": "MONDO:0009590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachromatic leukodystrophy due to saposin B deficiency", "equivalent_identifiers": ["MONDO:0009590", "OMIM:249900", "UMLS:C0268262", "UMLS:C5438940", "MESH:C562609", "SNOMEDCT:1003375005", "SNOMEDCT:297278001", "SNOMEDCT:68390005", "medgen:120624"], "information_content": 100.0}
{"id": "MONDO:0010732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraparesis-deafness syndrome", "equivalent_identifiers": ["MONDO:0010732", "DOID:0081100", "OMIM:312910", "orphanet:2815", "UMLS:C2931291", "MESH:C536692", "SNOMEDCT:715504003", "medgen:419037"], "information_content": 100.0}
{"id": "MONDO:0013157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "equivalent_identifiers": ["MONDO:0013157", "DOID:0111241", "OMIM:613153", "UMLS:C3150413", "medgen:461763"], "information_content": 100.0}
{"id": "MONDO:0010914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine palmitoyl transferase II deficiency, severe infantile form", "equivalent_identifiers": ["MONDO:0010914", "OMIM:600649", "orphanet:228305", "UMLS:C1833511", "MESH:C563462", "medgen:322211"], "information_content": 100.0}
{"id": "MONDO:0054817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 17", "equivalent_identifiers": ["MONDO:0054817", "DOID:0070404", "OMIM:618006", "UMLS:C4693912", "medgen:1644557"], "information_content": 100.0}
{"id": "MONDO:0036189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculogastrointestinal-neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0036189", "OMIM:619318", "orphanet:611201", "UMLS:C5543355", "SNOMEDCT:1356735003", "medgen:1779113"], "information_content": 100.0}
{"id": "HP:0004320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal fistula", "equivalent_identifiers": ["HP:0004320", "NCIT:C79847", "UMLS:C0042253", "MEDDRA:10065813", "SNOMEDCT:45135002", "MESH:D014624"], "information_content": 90.9}
{"id": "MONDO:0008775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amobarbital, deficient N-hydroxylation of", "equivalent_identifiers": ["MONDO:0008775", "OMIM:204800", "UMLS:C1859816", "MESH:C565959", "medgen:347241"], "information_content": 100.0}
{"id": "MONDO:0020632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 93", "equivalent_identifiers": ["MONDO:0020632", "DOID:0112275", "OMIM:618012", "UMLS:C4693934", "medgen:1642888"], "information_content": 100.0}
{"id": "MONDO:0015019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yao syndrome", "equivalent_identifiers": ["MONDO:0015019", "OMIM:617321", "UMLS:C4310620", "MESH:C000730393", "MEDDRA:10087171", "SNOMEDCT:768667002", "medgen:934587"], "information_content": 100.0}
{"id": "MONDO:0011102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 12", "equivalent_identifiers": ["MONDO:0011102", "DOID:0110544", "OMIM:601543", "UMLS:C1832187", "MESH:C563295", "medgen:321902"], "information_content": 100.0}
{"id": "MONDO:0013832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus 8", "equivalent_identifiers": ["MONDO:0013832", "OMIM:614628", "UMLS:C3553307", "medgen:766221"], "information_content": 100.0}
{"id": "MONDO:0008108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocerebrocutaneous syndrome", "equivalent_identifiers": ["MONDO:0008108", "OMIM:164180", "orphanet:1647", "UMLS:C0796092", "MESH:C538088", "MEDDRA:10088432", "SNOMEDCT:403554008", "medgen:163214"], "information_content": 100.0}
{"id": "MONDO:0001915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orbital cyst", "equivalent_identifiers": ["MONDO:0001915", "DOID:14233", "UMLS:C0155285", "MEDDRA:10031037", "MEDDRA:10031038", "SNOMEDCT:31021007", "medgen:56359", "icd11.foundation:1244231313", "ICD10:H05.81", "ICD9:376.81", "HP:0001144"], "information_content": 95.4}
{"id": "HP:0007115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Naso-orbital encephalocele", "equivalent_identifiers": ["HP:0007115", "UMLS:C0271330", "SNOMEDCT:15671007"], "information_content": 100.0}
{"id": "HP:0031798", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating apolipoprotein B concentration", "equivalent_identifiers": ["HP:0031798", "UMLS:C4703544"], "information_content": 100.0}
{"id": "MONDO:0010581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes insipidus, nephrogenic, X-linked", "equivalent_identifiers": ["MONDO:0010581", "DOID:0081060", "OMIM:304800", "UMLS:C1563705", "medgen:288785"], "information_content": 100.0}
{"id": "MONDO:0032908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CEBALID syndrome", "equivalent_identifiers": ["MONDO:0032908", "OMIM:618774", "UMLS:C5394044", "medgen:1710973"], "information_content": 100.0}
{"id": "HP:0033011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Platystencephaly", "equivalent_identifiers": ["HP:0033011", "UMLS:C5394047"], "information_content": 100.0}
{"id": "MONDO:0021355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neoplasm of esophagus", "equivalent_identifiers": ["MONDO:0021355", "UMLS:C0014859", "MESH:D004938", "MEDDRA:10015386", "MEDDRA:10030175", "MEDDRA:10061882", "MEDDRA:10072780", "NCIT:C3028", "SNOMEDCT:126817006", "medgen:4547", "HP:0100751"], "information_content": 63.9}
{"id": "MONDO:0024562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sick sinus syndrome 1", "equivalent_identifiers": ["MONDO:0024562", "OMIM:608567", "UMLS:C1837845", "medgen:325270"], "information_content": 100.0}
{"id": "MONDO:0011881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis palmoplantaris striata 3", "equivalent_identifiers": ["MONDO:0011881", "DOID:0081110", "OMIM:607654", "UMLS:C2931123", "MESH:C536163", "medgen:418996"], "information_content": 100.0}
{"id": "MONDO:0014859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 37", "equivalent_identifiers": ["MONDO:0014859", "DOID:0080435", "OMIM:616981", "UMLS:C4310770", "medgen:934737"], "information_content": 100.0}
{"id": "MONDO:0014460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "equivalent_identifiers": ["MONDO:0014460", "OMIM:616029", "orphanet:423454", "UMLS:C4014987", "SNOMEDCT:764995008", "medgen:863424"], "information_content": 100.0}
{"id": "MONDO:0033373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 64", "equivalent_identifiers": ["MONDO:0033373", "DOID:0070375", "OMIM:618004", "UMLS:C4693899", "medgen:1633501"], "information_content": 100.0}
{"id": "HP:0010763", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low insertion of columella", "equivalent_identifiers": ["HP:0010763", "UMLS:C4021229", "UMLS:C4280364"], "information_content": 100.0}
{"id": "MONDO:0008072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA nephropathy, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0008072", "OMIM:161950", "UMLS:C3160719", "medgen:463619"], "information_content": 100.0}
{"id": "MONDO:0015024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type", "equivalent_identifiers": ["MONDO:0015024", "DOID:0111652", "OMIM:617337", "UMLS:C4310616", "medgen:934583"], "information_content": 100.0}
{"id": "MONDO:0011990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures, benign familial neonatal, 3", "equivalent_identifiers": ["MONDO:0011990", "OMIM:608217", "UMLS:C1842382", "MESH:C564274", "medgen:334063"], "information_content": 100.0}
{"id": "MONDO:0010060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)", "equivalent_identifiers": ["MONDO:0010060", "DOID:0080126", "OMIM:271245", "orphanet:1186", "UMLS:C1849096", "MESH:C535523", "SNOMEDCT:724227000", "medgen:338613"], "information_content": 100.0}
{"id": "MONDO:0013155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3", "equivalent_identifiers": ["MONDO:0013155", "DOID:0112378", "OMIM:613151", "UMLS:C3150412", "medgen:461762"], "information_content": 100.0}
{"id": "MONDO:0011513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology", "equivalent_identifiers": ["MONDO:0011513", "OMIM:605055", "UMLS:C1857933", "MESH:C565728", "medgen:341884"], "information_content": 100.0}
{"id": "MONDO:0012926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta hypomaturation type 2A2", "equivalent_identifiers": ["MONDO:0012926", "DOID:0110060", "OMIM:612529", "UMLS:C2675858", "MESH:C567279", "medgen:436540"], "information_content": 100.0}
{"id": "HP:0033786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomature enamel", "equivalent_identifiers": ["HP:0033786", "UMLS:C1396276", "MESH:C000721947"], "information_content": 100.0}
{"id": "MONDO:0009310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2", "equivalent_identifiers": ["MONDO:0009310", "DOID:0070191", "OMIM:233710", "UMLS:C1856245", "MESH:C565531", "medgen:383869"], "information_content": 100.0}
{"id": "MONDO:0000744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung abscess", "equivalent_identifiers": ["MONDO:0000744", "DOID:0060317", "EFO:1001362", "UMLS:C0024110", "MESH:D008169", "MEDDRA:10000301", "MEDDRA:10025028", "MEDDRA:10025030", "NCIT:C99090", "SNOMEDCT:73452002", "medgen:7397", "ICD10:J85.2", "ICD9:513.0", "HP:0025044"], "information_content": 100.0}
{"id": "HP:0034752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axillary lymphadenopathy", "equivalent_identifiers": ["HP:0034752", "NCIT:C35493", "UMLS:C0578735", "MEDDRA:10003871", "MEDDRA:10003875", "MEDDRA:10049109", "SNOMEDCT:127189005"], "information_content": 100.0}
{"id": "MONDO:0012060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 35", "equivalent_identifiers": ["MONDO:0012060", "DOID:0110493", "OMIM:608565", "UMLS:C1837857", "MESH:C563908", "medgen:324897"], "information_content": 100.0}
{"id": "HP:0031703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ear morphology", "equivalent_identifiers": ["HP:0031703", "UMLS:C4703491"], "information_content": 54.6}
{"id": "HP:0000504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of vision", "equivalent_identifiers": ["HP:0000504", "UMLS:C4025846"], "information_content": 64.0}
{"id": "MONDO:0032910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 34", "equivalent_identifiers": ["MONDO:0032910", "DOID:0112091", "OMIM:618776", "UMLS:C5394053", "medgen:1720533"], "information_content": 100.0}
{"id": "MONDO:0859175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis-like nephropathy 2", "equivalent_identifiers": ["MONDO:0859175", "OMIM:619468", "UMLS:C5561953", "medgen:1794163"], "information_content": 100.0}
{"id": "HP:0032417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periglomerular fibrosis", "equivalent_identifiers": ["HP:0032417", "UMLS:C5139330"], "information_content": 100.0}
{"id": "MONDO:0007723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0007723", "OMIM:142623", "UMLS:C3888125", "UMLS:C3888239", "medgen:854827"], "information_content": 100.0}
{"id": "HP:0004362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal enteric ganglion morphology", "equivalent_identifiers": ["HP:0004362", "UMLS:C4025338", "UMLS:C4293671"], "information_content": 84.8}
{"id": "MONDO:0009083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conductive deafness-malformed external ear syndrome", "equivalent_identifiers": ["MONDO:0009083", "OMIM:221300", "orphanet:3216", "UMLS:C1857341", "MESH:C565644", "medgen:347429"], "information_content": 100.0}
{"id": "DOID:0050693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brooke-Spiegler syndrome", "equivalent_identifiers": ["DOID:0050693", "OMIM:605041", "UMLS:C1857941", "MEDDRA:10087912", "NCIT:C43352", "SNOMEDCT:703531009"], "information_content": 95.4}
{"id": "MONDO:0008381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dominant pericentral pigmentary retinopathy", "equivalent_identifiers": ["MONDO:0008381", "DOID:0110420", "OMIM:180210", "UMLS:C1867261", "MESH:C566713", "medgen:357237"], "information_content": 100.0}
{"id": "MONDO:0007084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial focal alopecia", "equivalent_identifiers": ["MONDO:0007084", "OMIM:104110", "UMLS:C1863092", "MESH:C566301", "medgen:350835"], "information_content": 100.0}
{"id": "MONDO:0010005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "saccharopinuria", "equivalent_identifiers": ["MONDO:0010005", "OMIM:268700", "orphanet:3124", "UMLS:C0268556", "UMLS:C2936921", "MESH:C537218", "SNOMEDCT:111397004", "medgen:75693", "HP:0034028"], "information_content": 100.0}
{"id": "HP:6000283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary saccharopine level", "equivalent_identifiers": ["HP:6000283", "UMLS:C5937095"], "information_content": 100.0}
{"id": "HP:0032397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Citrullinuria", "equivalent_identifiers": ["HP:0032397", "UMLS:C5779778", "SNOMEDCT:398630005"], "information_content": 100.0}
{"id": "HP:0034026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating saccharopine concentration", "equivalent_identifiers": ["HP:0034026", "UMLS:C5558395"], "information_content": 100.0}
{"id": "MONDO:0060724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycosylphosphatidylinositol biosynthesis defect 17", "equivalent_identifiers": ["MONDO:0060724", "OMIM:618010", "UMLS:C4747891", "medgen:1648437"], "information_content": 100.0}
{"id": "MONDO:0015020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 59", "equivalent_identifiers": ["MONDO:0015020", "DOID:0081221", "OMIM:617323", "UMLS:C4310619", "medgen:934586"], "information_content": 100.0}
{"id": "MONDO:0011988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutrophil immunodeficiency syndrome", "equivalent_identifiers": ["MONDO:0011988", "DOID:0112064", "OMIM:608203", "orphanet:183707", "UMLS:C1842398", "MESH:C564275", "SNOMEDCT:723443003", "medgen:374920", "icd11.foundation:1459690929"], "information_content": 100.0}
{"id": "MONDO:0018844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urachal cyst", "equivalent_identifiers": ["MONDO:0018844", "orphanet:488", "UMLS:C0041915", "MESH:D014496", "MEDDRA:10065375", "NCIT:C85216", "SNOMEDCT:17234001", "medgen:21770", "icd11.foundation:1125432593", "HP:0012618"], "information_content": 100.0}
{"id": "MONDO:0013818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichohepatoenteric syndrome 2", "equivalent_identifiers": ["MONDO:0013818", "DOID:0111416", "OMIM:614602", "UMLS:C3281289", "medgen:482919"], "information_content": 100.0}
{"id": "MONDO:0012197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic aplastic anemia", "equivalent_identifiers": ["MONDO:0012197", "OMIM:609135", "orphanet:88", "UMLS:C0348890", "MESH:C538494", "NCIT:C61230", "SNOMEDCT:191256002", "medgen:87595", "icd11.foundation:1615519452"], "information_content": 95.4}
{"id": "MONDO:0859150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BDV syndrome", "equivalent_identifiers": ["MONDO:0859150", "OMIM:619326", "orphanet:633028", "UMLS:C5543403", "SNOMEDCT:1340175001", "medgen:1785671"], "information_content": 100.0}
{"id": "HP:0033078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating free T4 concentration", "equivalent_identifiers": ["HP:0033078", "UMLS:C5421592"], "information_content": 100.0}
{"id": "MONDO:0007371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cornea guttata with anterior polar cataracts", "equivalent_identifiers": ["MONDO:0007371", "OMIM:121390", "UMLS:C1852558", "MESH:C535471", "medgen:338956"], "information_content": 100.0}
{"id": "MONDO:0033554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "equivalent_identifiers": ["MONDO:0033554", "DOID:0112061", "OMIM:618986", "UMLS:C5436549", "medgen:1740566"], "information_content": 100.0}
{"id": "HP:0410305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine", "equivalent_identifiers": ["HP:0410305", "UMLS:C5139468"], "information_content": 100.0}
{"id": "MONDO:0013601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gluthathione peroxidase deficiency", "equivalent_identifiers": ["MONDO:0013601", "OMIM:614164", "UMLS:C0398747", "SNOMEDCT:234590006", "medgen:473098"], "information_content": 100.0}
{"id": "HP:0020082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heinz bodies", "equivalent_identifiers": ["HP:0020082"], "information_content": 100.0}
{"id": "MONDO:0011451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1", "equivalent_identifiers": ["MONDO:0011451", "DOID:0080357", "OMIM:604377", "UMLS:C1858424", "UMLS:C5399977", "MESH:C565784", "medgen:1748867"], "information_content": 100.0}
{"id": "HP:0012747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal brainstem MRI signal intensity", "equivalent_identifiers": ["HP:0012747", "UMLS:C4022749"], "information_content": 89.4}
{"id": "HP:0012195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular respiration", "equivalent_identifiers": ["HP:0012195", "EFO:0009841", "NCIT:C87089", "UMLS:C0425492", "MEDDRA:10038652", "MEDDRA:10076213", "SNOMEDCT:248585001"], "information_content": 100.0}
{"id": "HP:0033526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited ankle dorsiflexion", "equivalent_identifiers": ["HP:0033526", "UMLS:C5539659"], "information_content": 100.0}
{"id": "HP:0007089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial-lingual fasciculations", "equivalent_identifiers": ["HP:0007089", "UMLS:C1862359"], "information_content": 95.4}
{"id": "HP:0200049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb hypertonia", "equivalent_identifiers": ["HP:0200049", "UMLS:C4021898"], "information_content": 100.0}
{"id": "MONDO:0013605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brittle cornea syndrome 2", "equivalent_identifiers": ["MONDO:0013605", "DOID:0080729", "OMIM:614170", "UMLS:C3280011", "medgen:481641"], "information_content": 100.0}
{"id": "HP:0100583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iridocele", "equivalent_identifiers": ["HP:0100583", "NCIT:C50692", "UMLS:C0339293", "UMLS:C0948060", "MEDDRA:10011039", "MEDDRA:10034408", "MEDDRA:10051450", "SNOMEDCT:74895004", "MESH:D057112"], "information_content": 95.4}
{"id": "MONDO:0010818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 12", "equivalent_identifiers": ["MONDO:0010818", "DOID:0110358", "OMIM:600105", "UMLS:C1838647", "MESH:C563999", "medgen:374019"], "information_content": 100.0}
{"id": "HP:0005234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal intestinal obstruction", "equivalent_identifiers": ["HP:0005234", "UMLS:C0859974", "UMLS:C4518604", "MEDDRA:10028951", "SNOMEDCT:733145007"], "information_content": 100.0}
{"id": "MONDO:0007652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric mucosal hypertrophy", "equivalent_identifiers": ["MONDO:0007652", "DOID:8757", "OMIM:137280", "orphanet:2494", "EFO:1000946", "UMLS:C0017155", "UMLS:C2936660", "MESH:D005758", "MEDDRA:10017807", "MEDDRA:10017868", "MEDDRA:10057029", "MEDDRA:10062567", "NCIT:C67277", "SNOMEDCT:413219009", "SNOMEDCT:60002000", "medgen:4844", "icd11.foundation:1343994188", "ICD9:535.2", "HP:0005246"], "information_content": 100.0}
{"id": "MONDO:0011683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 4", "equivalent_identifiers": ["MONDO:0011683", "DOID:0070098", "OMIM:606574", "orphanet:79435", "UMLS:C1847836", "MESH:C564696", "SNOMEDCT:715632003", "medgen:338324", "icd11.foundation:1286886811"], "information_content": 100.0}
{"id": "MONDO:0012327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 46", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012327", "DOID:0110503", "OMIM:609647", "UMLS:C1864815", "MESH:C566459", "medgen:355302"], "information_content": 100.0}
{"id": "MONDO:0033556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15", "equivalent_identifiers": ["MONDO:0033556", "DOID:0112376", "OMIM:618992", "UMLS:C5436552", "medgen:1755743"], "information_content": 100.0}
{"id": "MONDO:0014450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breasts and/or nipples, aplasia or hypoplasia of, 2", "equivalent_identifiers": ["MONDO:0014450", "OMIM:616001", "UMLS:C4014918", "medgen:863355"], "information_content": 100.0}
{"id": "HP:0100853", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic areola", "equivalent_identifiers": ["HP:0100853", "UMLS:C3276032"], "information_content": 100.0}
{"id": "HP:0032077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Male urethral meatus stenosis", "equivalent_identifiers": ["HP:0032077", "UMLS:C4760707"], "information_content": 100.0}
{"id": "MONDO:0007520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1", "equivalent_identifiers": ["MONDO:0007520", "DOID:0060784", "OMIM:129900", "UMLS:C1851841", "MESH:C565062", "medgen:343663"], "information_content": 100.0}
{"id": "MONDO:0015850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transverse vaginal septum", "equivalent_identifiers": ["MONDO:0015850", "orphanet:180160", "UMLS:C1856006", "medgen:341032", "icd11.foundation:1265288464", "HP:0000145"], "information_content": 100.0}
{"id": "HP:0000198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of Stensen duct", "equivalent_identifiers": ["HP:0000198", "UMLS:C1858569", "UMLS:C4280674"], "information_content": 100.0}
{"id": "MONDO:0008628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureterocele", "equivalent_identifiers": ["MONDO:0008628", "DOID:4022", "OMIM:191650", "EFO:1001227", "UMLS:C0041960", "MESH:D014518", "MEDDRA:10056433", "NCIT:C123159", "SNOMEDCT:12818004", "medgen:21778", "icd11.foundation:408801251", "HP:0000070"], "information_content": 88.2}
{"id": "MONDO:0008912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac septal defects with coarctation of the aorta", "equivalent_identifiers": ["MONDO:0008912", "OMIM:212090", "UMLS:C1859331", "MESH:C565883", "medgen:347855"], "information_content": 100.0}
{"id": "MONDO:0013171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "purine nucleoside phosphorylase deficiency", "equivalent_identifiers": ["MONDO:0013171", "DOID:5813", "OMIM:613179", "orphanet:760", "UMLS:C0268125", "MESH:C562587", "MEDDRA:10086665", "NCIT:C176817", "SNOMEDCT:60743005", "medgen:75653", "ICD10:D81.5"], "information_content": 92.8}
{"id": "HP:0005372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of B cell physiology", "equivalent_identifiers": ["HP:0005372", "UMLS:C1849242"], "information_content": 62.9}
{"id": "HP:0033339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating inosine concentration", "equivalent_identifiers": ["HP:0033339", "UMLS:C5539526"], "information_content": 100.0}
{"id": "HP:0040422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary inosine level", "equivalent_identifiers": ["HP:0040422", "UMLS:C5937610"], "information_content": 100.0}
{"id": "HP:0040424", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary guanosine level", "equivalent_identifiers": ["HP:0040424", "UMLS:C5936794"], "information_content": 100.0}
{"id": "HP:0033340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating guanosine concentration", "equivalent_identifiers": ["HP:0033340", "UMLS:C5539527"], "information_content": 100.0}
{"id": "MONDO:0013825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DIARRHEA 6", "equivalent_identifiers": ["MONDO:0013825", "DOID:0060780", "OMIM:614616", "orphanet:314373", "UMLS:C3553270", "medgen:766184"], "information_content": 100.0}
{"id": "HP:6000319", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meteorism", "equivalent_identifiers": ["HP:6000319", "NCIT:C78213", "NCIT:C94471", "UMLS:C1291077", "MEDDRA:10005265", "MEDDRA:10005267", "MEDDRA:10027493", "MEDDRA:10045213", "MEDDRA:10048746", "SNOMEDCT:116289008"], "information_content": 100.0}
{"id": "MONDO:0014218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe dermatitis-multiple allergies-metabolic wasting syndrome", "equivalent_identifiers": ["MONDO:0014218", "OMIM:615508", "orphanet:369992", "UMLS:C3809719", "SNOMEDCT:774211005", "medgen:816049"], "information_content": 100.0}
{"id": "MONDO:0007589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 1", "equivalent_identifiers": ["MONDO:0007589", "DOID:0111412", "OMIM:133780", "UMLS:C1851402", "MESH:C536382", "NCIT:C175048", "medgen:343561"], "information_content": 100.0}
{"id": "HP:0025007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic fovea", "equivalent_identifiers": ["HP:0025007", "UMLS:C4293669", "UMLS:C4293705"], "information_content": 100.0}
{"id": "MONDO:0008125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic congenital nail disorder 5", "equivalent_identifiers": ["MONDO:0008125", "DOID:0080083", "OMIM:164800", "UMLS:C1833909", "MESH:C563503", "SNOMEDCT:1254945005", "medgen:318994"], "information_content": 100.0}
{"id": "MONDO:0013173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 13", "equivalent_identifiers": ["MONDO:0013173", "DOID:0081098", "OMIM:613192", "UMLS:C2750791", "MESH:C567714", "medgen:442564"], "information_content": 100.0}
{"id": "MONDO:0957832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniometadiaphyseal osteosclerosis with hip dysplasia", "equivalent_identifiers": ["MONDO:0957832", "OMIM:620558", "UMLS:C5882710", "medgen:1844026"], "information_content": 100.0}
{"id": "HP:0100670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coarse metaphyseal trabecularization", "equivalent_identifiers": ["HP:0100670", "UMLS:C4020958"], "information_content": 100.0}
{"id": "HP:0004618", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandwich appearance of vertebral bodies", "equivalent_identifiers": ["HP:0004618", "UMLS:C1850134"], "information_content": 100.0}
{"id": "HP:5200001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Selective mutism", "equivalent_identifiers": ["HP:5200001", "NCIT:C92569", "UMLS:C0236818", "MEDDRA:10014354", "MEDDRA:10039917", "SNOMEDCT:71959007"], "information_content": 100.0}
{"id": "HP:0012731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic anterior pituitary gland", "equivalent_identifiers": ["HP:0012731", "UMLS:C4022751"], "information_content": 95.4}
{"id": "HP:0012541", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cephalohematoma", "equivalent_identifiers": ["HP:0012541", "NCIT:C50484", "UMLS:C0007722", "MEDDRA:10008014", "MEDDRA:10008021", "MEDDRA:10060530", "MEDDRA:10060531", "SNOMEDCT:206200000", "SNOMEDCT:83095000"], "information_content": 100.0}
{"id": "MONDO:0010943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 4", "equivalent_identifiers": ["MONDO:0010943", "DOID:0070080", "OMIM:600850", "UMLS:C1833247", "medgen:371517"], "information_content": 100.0}
{"id": "MONDO:0010702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome I", "equivalent_identifiers": ["MONDO:0010702", "DOID:0060316", "OMIM:311200", "orphanet:2750", "UMLS:C1306831", "UMLS:C1510460", "UMLS:C2931426", "MESH:C537134", "NCIT:C75481", "SNOMEDCT:403773005", "SNOMEDCT:763833006", "medgen:307142"], "information_content": 100.0}
{"id": "MONDO:0011113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4C", "equivalent_identifiers": ["MONDO:0011113", "DOID:0110183", "OMIM:601596", "orphanet:99949", "UMLS:C1866636", "MESH:C535423", "NCIT:C129864", "SNOMEDCT:715797002", "medgen:356581", "icd11.foundation:382219984"], "information_content": 100.0}
{"id": "HP:0007107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Segmental peripheral demyelination", "equivalent_identifiers": ["HP:0007107", "UMLS:C4024938"], "information_content": 100.0}
{"id": "HP:0034347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Greater auricular nerve thickening", "equivalent_identifiers": ["HP:0034347", "UMLS:C5706184"], "information_content": 100.0}
{"id": "HP:0007695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pupillary light reflex", "equivalent_identifiers": ["HP:0007695", "UMLS:C1970591"], "information_content": 95.4}
{"id": "MONDO:0049222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 107", "equivalent_identifiers": ["MONDO:0049222", "DOID:0112054", "OMIM:301013", "UMLS:C4692652", "medgen:1639885"], "information_content": 100.0}
{"id": "HP:0011245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of superior crus of antihelix", "equivalent_identifiers": ["HP:0011245", "UMLS:C4021190"], "information_content": 92.8}
{"id": "MONDO:0011927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tufted angioma", "equivalent_identifiers": ["MONDO:0011927", "OMIM:607859", "orphanet:1063", "UMLS:C0346073", "MESH:C536924", "NCIT:C4487", "SNOMEDCT:254786000", "SNOMEDCT:705155008", "medgen:83402", "icd11.foundation:1994573217", "HP:0012329"], "information_content": 100.0}
{"id": "MONDO:0019293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin vascular disease", "equivalent_identifiers": ["MONDO:0019293", "DOID:9540", "orphanet:79379", "UMLS:C0162819", "UMLS:C1842892", "MESH:D017445", "MEDDRA:10047043", "MEDDRA:10047109", "MEDDRA:10062171", "NCIT:C35254", "SNOMEDCT:11263005", "medgen:102473", "HP:0011276"], "information_content": 69.7}
{"id": "MONDO:0011891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile seizures, familial, 8", "equivalent_identifiers": ["MONDO:0011891", "DOID:0111298", "OMIM:607681", "UMLS:C1843244", "UMLS:C1858674", "UMLS:C1969810", "MESH:C565811", "MESH:C566975", "medgen:370755"], "information_content": 100.0}
{"id": "MONDO:0014848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TELO2-related intellectual disability-neurodevelopmental disorder", "equivalent_identifiers": ["MONDO:0014848", "OMIM:616954", "orphanet:488642", "EFO:0009061", "UMLS:C4310778", "SNOMEDCT:1172626003", "medgen:934745"], "information_content": 100.0}
{"id": "MONDO:0020791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, Meesmann, 1", "equivalent_identifiers": ["MONDO:0020791", "DOID:0080670", "OMIM:122100", "UMLS:C5231499", "medgen:1684668"], "information_content": 100.0}
{"id": "HP:0007856", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate opacification of the cornea", "equivalent_identifiers": ["HP:0007856", "UMLS:C4021565"], "information_content": 95.4}
{"id": "MONDO:0014118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital neutropenia-myelofibrosis-nephromegaly syndrome", "equivalent_identifiers": ["MONDO:0014118", "DOID:0112132", "OMIM:615285", "orphanet:369852", "UMLS:C3809031", "NCIT:C176612", "medgen:815361"], "information_content": 100.0}
{"id": "MONDO:0013455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 16", "equivalent_identifiers": ["MONDO:0013455", "DOID:0110322", "OMIM:613838", "UMLS:C3151204", "medgen:462554"], "information_content": 100.0}
{"id": "HP:0012764", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orthopnea", "equivalent_identifiers": ["HP:0012764", "NCIT:C191448", "UMLS:C0085619", "MEDDRA:10031122", "MEDDRA:10031123", "SNOMEDCT:62744007"], "information_content": 100.0}
{"id": "MONDO:0008988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "citrullinemia type I", "equivalent_identifiers": ["MONDO:0008988", "DOID:0070340", "OMIM:215700", "orphanet:247525", "UMLS:C4721769", "MEDDRA:10079142", "MEDDRA:10079143", "NCIT:C150601", "SNOMEDCT:1149103000", "SNOMEDCT:398680004", "medgen:1648491"], "information_content": 92.8}
{"id": "HP:6000353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue argininosuccinate synthetase activity", "equivalent_identifiers": ["HP:6000353", "UMLS:C5937147"], "information_content": 100.0}
{"id": "MONDO:0009456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Immunoerythromyeloid hypoplasia", "equivalent_identifiers": ["MONDO:0009456", "OMIM:242880"], "information_content": 100.0}
{"id": "HP:0008161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent leukocyte alkaline phosphatase", "equivalent_identifiers": ["HP:0008161", "UMLS:C4024724"], "information_content": 100.0}
{"id": "MONDO:0013905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 13", "equivalent_identifiers": ["MONDO:0013905", "DOID:0080062", "OMIM:614831", "orphanet:324262", "UMLS:C3553816", "medgen:766730"], "information_content": 100.0}
{"id": "MONDO:0009449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia with defective radial spokes", "equivalent_identifiers": ["MONDO:0009449", "OMIM:242670", "UMLS:C0340035", "MESH:C536286", "SNOMEDCT:233664005", "medgen:137933"], "information_content": 100.0}
{"id": "HP:0012267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent respiratory ciliary axoneme radial spokes", "equivalent_identifiers": ["HP:0012267", "UMLS:C4022981"], "information_content": 100.0}
{"id": "MONDO:0012772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stevenson-Carey syndrome", "equivalent_identifiers": ["MONDO:0012772", "OMIM:611961", "UMLS:C2677763", "MESH:C567446", "medgen:383183"], "information_content": 100.0}
{"id": "MONDO:0013899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weill-Marchesani syndrome 3", "equivalent_identifiers": ["MONDO:0013899", "OMIM:614819", "UMLS:C3553785", "medgen:766699"], "information_content": 100.0}
{"id": "MONDO:0013437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 43", "equivalent_identifiers": ["MONDO:0013437", "DOID:0110379", "OMIM:613810", "UMLS:C3151139", "medgen:462489"], "information_content": 100.0}
{"id": "MONDO:0030539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central hypoventilation syndrome, congenital, 3", "equivalent_identifiers": ["MONDO:0030539", "OMIM:619483", "UMLS:C5561964", "medgen:1794174"], "information_content": 100.0}
{"id": "MONDO:0008959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHAND syndrome", "equivalent_identifiers": ["MONDO:0008959", "OMIM:214350", "orphanet:1401", "UMLS:C0406733", "MESH:C538074", "SNOMEDCT:239037001", "medgen:98035"], "information_content": 100.0}
{"id": "MONDO:0014853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 70", "equivalent_identifiers": ["MONDO:0014853", "DOID:0110592", "OMIM:616968", "UMLS:C4310775", "medgen:934742"], "information_content": 100.0}
{"id": "MONDO:0033533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 45", "equivalent_identifiers": ["MONDO:0033533", "DOID:0112113", "OMIM:618951", "UMLS:C5436461", "medgen:1731010"], "information_content": 100.0}
{"id": "MONDO:0013431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 4", "equivalent_identifiers": ["MONDO:0013431", "DOID:0080515", "OMIM:613804", "UMLS:C3151120", "medgen:462470"], "information_content": 100.0}
{"id": "MONDO:0007407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cryoglobulinemic vasculitis", "equivalent_identifiers": ["MONDO:0007407", "OMIM:123550", "orphanet:91138", "UMLS:C0340992", "UMLS:C1852456", "MESH:C565141", "MEDDRA:10075623", "MEDDRA:10075624", "SNOMEDCT:190815001", "medgen:343814", "icd11.foundation:55133785"], "information_content": 92.8}
{"id": "MONDO:0005576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryoglobulinemia", "equivalent_identifiers": ["MONDO:0005576", "DOID:2917", "EFO:0005846", "UMLS:C0010403", "MESH:D003449", "MEDDRA:10011474", "MEDDRA:10011475", "NCIT:C26736", "SNOMEDCT:30911005", "medgen:3673", "ICD10:D89.1", "HP:0100778"], "information_content": 92.8}
{"id": "MONDO:0957922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 52", "equivalent_identifiers": ["MONDO:0957922", "OMIM:620570", "UMLS:C5882714", "medgen:1852921"], "information_content": 100.0}
{"id": "HP:0011553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Discordant atrioventricular connection", "equivalent_identifiers": ["HP:0011553", "UMLS:C0344615", "MEDDRA:10087159", "SNOMEDCT:253277003"], "information_content": 100.0}
{"id": "HP:0010691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mirror image foot polydactyly", "equivalent_identifiers": ["HP:0010691", "UMLS:C4021238"], "information_content": 100.0}
{"id": "MONDO:0010469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epsilon-trimethyllysine hydroxylase deficiency", "equivalent_identifiers": ["MONDO:0010469", "OMIM:300872", "UMLS:C3550875", "medgen:763789"], "information_content": 100.0}
{"id": "MONDO:0013264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 12", "equivalent_identifiers": ["MONDO:0013264", "DOID:0060203", "OMIM:613435", "UMLS:C3150692", "medgen:462042"], "information_content": 100.0}
{"id": "MONDO:0010182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercarotenemia and vitamin A deficiency, autosomal recessive", "equivalent_identifiers": ["MONDO:0010182", "OMIM:277350", "UMLS:C2678266", "MESH:C567486", "medgen:395578"], "information_content": 100.0}
{"id": "HP:0007462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bitot's spots", "equivalent_identifiers": ["HP:0007462", "UMLS:C0423178", "UMLS:C4024868", "SNOMEDCT:246871006"], "information_content": 100.0}
{"id": "MONDO:0014320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "equivalent_identifiers": ["MONDO:0014320", "DOID:0112226", "OMIM:615722", "orphanet:401777", "UMLS:C3810363", "MEDDRA:10083269", "SNOMEDCT:770723007", "medgen:816693"], "information_content": 100.0}
{"id": "MONDO:0013237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "susceptibility to mononeuropathy of the median nerve, mild", "equivalent_identifiers": ["MONDO:0013237", "OMIM:613353", "UMLS:C3150596", "medgen:461946"], "information_content": 100.0}
{"id": "MONDO:0001397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mononeuropathy", "equivalent_identifiers": ["MONDO:0001397", "DOID:1188", "EFO:0009558", "UMLS:C0494491", "MESH:D020422", "MEDDRA:10027917", "MEDDRA:10027919", "MEDDRA:10062203", "SNOMEDCT:128189008", "medgen:99214", "icd11.foundation:1866592137", "ICD10:G58.9", "HP:0009831"], "information_content": 80.2}
{"id": "MONDO:0011814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smith-McCort dysplasia 1", "equivalent_identifiers": ["MONDO:0011814", "DOID:0081270", "OMIM:607326", "UMLS:C3888088", "medgen:854757"], "information_content": 100.0}
{"id": "HP:0002681", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed sella turcica", "equivalent_identifiers": ["HP:0002681", "UMLS:C1846437"], "information_content": 88.2}
{"id": "HP:0008829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed femoral head ossification", "equivalent_identifiers": ["HP:0008829", "UMLS:C1846446", "UMLS:C4280410"], "information_content": 100.0}
{"id": "HP:0008835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multicentric femoral head ossification", "equivalent_identifiers": ["HP:0008835", "UMLS:C1846447"], "information_content": 100.0}
{"id": "MONDO:0100325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontochondrodysplasia 1", "equivalent_identifiers": ["MONDO:0100325", "OMIM:184260", "orphanet:166272", "UMLS:C5542277", "SNOMEDCT:717823001", "medgen:1784281"], "information_content": 100.0}
{"id": "HP:0004625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biconvex vertebral bodies", "equivalent_identifiers": ["HP:0004625", "UMLS:C1866675"], "information_content": 100.0}
{"id": "MONDO:0012688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 17 multiple types", "equivalent_identifiers": ["MONDO:0012688", "DOID:0110270", "OMIM:611544", "UMLS:C1969062", "UMLS:C3888124", "MESH:C566923", "medgen:854781"], "information_content": 100.0}
{"id": "MONDO:0007668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "globulin anomaly involving beta (2A)-globulin", "equivalent_identifiers": ["MONDO:0007668", "OMIM:137900", "UMLS:C1842009", "MESH:C564229", "medgen:330741"], "information_content": 100.0}
{"id": "MONDO:0014928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 28", "equivalent_identifiers": ["MONDO:0014928", "DOID:0110997", "OMIM:617121", "UMLS:C4310705", "medgen:934672"], "information_content": 100.0}
{"id": "MONDO:0012575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiootorenal syndrome 2", "equivalent_identifiers": ["MONDO:0012575", "DOID:0111424", "OMIM:610896", "UMLS:C1970479", "medgen:410081"], "information_content": 100.0}
{"id": "OMIM:613347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 2", "equivalent_identifiers": ["OMIM:613347", "UMLS:C3150546"]}
{"id": "MONDO:0007752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperheparinemia", "equivalent_identifiers": ["MONDO:0007752", "OMIM:144050", "UMLS:C3203346", "MESH:C562723", "SNOMEDCT:79674009", "medgen:469019"], "information_content": 100.0}
{"id": "MONDO:0014691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 9", "equivalent_identifiers": ["MONDO:0014691", "DOID:0060587", "OMIM:616559", "UMLS:C4225282", "NCIT:C176937", "medgen:896352"], "information_content": 100.0}
{"id": "HP:0010726", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent corneal nerve fibers", "equivalent_identifiers": ["HP:0010726", "UMLS:C4021233"], "information_content": 100.0}
{"id": "MONDO:0011833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 21", "equivalent_identifiers": ["MONDO:0011833", "DOID:0050972", "OMIM:607454", "orphanet:98773", "UMLS:C1843891", "MESH:C537200", "SNOMEDCT:718774001", "medgen:375311", "icd11.foundation:1426889593"], "information_content": 100.0}
{"id": "MONDO:0003038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysgraphia", "equivalent_identifiers": ["MONDO:0003038", "DOID:4540", "UMLS:C0234144", "MEDDRA:10058319", "NCIT:C182452", "SNOMEDCT:88278002", "medgen:115942", "HP:0010526"], "information_content": 100.0}
{"id": "HP:0007792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microsaccadic pursuit", "equivalent_identifiers": ["HP:0007792", "UMLS:C1843892"], "information_content": 100.0}
{"id": "MONDO:0007182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Machado-Joseph disease", "equivalent_identifiers": ["MONDO:0007182", "DOID:1440", "OMIM:109150", "orphanet:98757", "UMLS:C0024408", "MESH:D017827", "NCIT:C84830", "SNOMEDCT:91952008", "medgen:9841"], "information_content": 88.2}
{"id": "HP:0030454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal electrooculogram", "equivalent_identifiers": ["HP:0030454", "UMLS:C0159104", "MEDDRA:10014360", "MEDDRA:10014456", "MEDDRA:10029669", "SNOMEDCT:442770004"], "information_content": 92.8}
{"id": "HP:0012532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic pain", "equivalent_identifiers": ["HP:0012532", "NCIT:C26940", "UMLS:C0150055", "MEDDRA:10049475", "SNOMEDCT:82423001", "MESH:D059350"], "information_content": 89.4}
{"id": "MONDO:0012995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myopia 15", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0012995", "OMIM:612717", "UMLS:C2675180", "MESH:C567193", "medgen:393323"], "information_content": 100.0}
{"id": "MONDO:0011717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism-hyperammonemia syndrome", "equivalent_identifiers": ["MONDO:0011717", "DOID:0070217", "OMIM:606762", "orphanet:35878", "UMLS:C1847555", "MESH:C538375", "MEDDRA:10077860", "MEDDRA:10077865", "NCIT:C131832", "SNOMEDCT:718106009", "medgen:376153"], "information_content": 100.0}
{"id": "HP:0008162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymptomatic hyperammonemia", "equivalent_identifiers": ["HP:0008162", "UMLS:C4021552"], "information_content": 100.0}
{"id": "HP:0006476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the pancreatic islet cells", "equivalent_identifiers": ["HP:0006476", "UMLS:C4025043"], "information_content": 81.7}
{"id": "MONDO:0010401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked myopathy with postural muscle atrophy", "equivalent_identifiers": ["MONDO:0010401", "DOID:0070251", "OMIM:300696", "orphanet:178461", "UMLS:C2678055", "SNOMEDCT:773729007", "medgen:395525", "icd11.foundation:420677690"], "information_content": 100.0}
{"id": "HP:0003089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hamstring contractures", "equivalent_identifiers": ["HP:0003089", "UMLS:C0410266", "SNOMEDCT:203074005"], "information_content": 100.0}
{"id": "MONDO:0012411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "giant axonal neuropathy 2", "equivalent_identifiers": ["MONDO:0012411", "DOID:0090069", "OMIM:610100", "orphanet:401964", "UMLS:C1864695", "MESH:C566444", "medgen:400593"], "information_content": 100.0}
{"id": "MONDO:0011950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile-onset autosomal recessive nonprogressive cerebellar ataxia", "equivalent_identifiers": ["MONDO:0011950", "DOID:0111617", "OMIM:608029", "orphanet:284332", "UMLS:C1842676", "MESH:C537312", "SNOMEDCT:785300001", "medgen:334220"], "information_content": 100.0}
{"id": "MONDO:0030856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 89", "equivalent_identifiers": ["MONDO:0030856", "DOID:0112223", "OMIM:619124", "UMLS:C5436853", "medgen:1761611"], "information_content": 100.0}
{"id": "MONDO:0014537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 19", "equivalent_identifiers": ["MONDO:0014537", "DOID:0111126", "OMIM:616217", "UMLS:C4015542", "medgen:863979"], "information_content": 100.0}
{"id": "MONDO:0007163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia type 2", "equivalent_identifiers": ["MONDO:0007163", "DOID:0050990", "OMIM:108500", "orphanet:97", "UMLS:C1720416", "MESH:C535506", "NCIT:C202603", "SNOMEDCT:420932006", "medgen:314039"], "information_content": 100.0}
{"id": "MONDO:0013738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 96", "equivalent_identifiers": ["MONDO:0013738", "DOID:0110538", "OMIM:614414", "UMLS:C3888337", "medgen:854865"], "information_content": 100.0}
{"id": "MONDO:0010161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tyrosinemia type I", "equivalent_identifiers": ["MONDO:0010161", "DOID:0050726", "OMIM:276700", "orphanet:882", "UMLS:C0268490", "MEDDRA:10069459", "MEDDRA:10069462", "NCIT:C98641", "SNOMEDCT:124536006", "SNOMEDCT:410056006", "medgen:75688", "icd11.foundation:2029519782"], "information_content": 100.0}
{"id": "HP:0006949", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic peripheral neuropathy", "equivalent_identifiers": ["HP:0006949", "UMLS:C1848695"], "information_content": 100.0}
{"id": "HP:6000598", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary succinylacetone level", "equivalent_identifiers": ["HP:6000598", "UMLS:C5937353"], "information_content": 100.0}
{"id": "HP:6000775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 4-tyramine level", "equivalent_identifiers": ["HP:6000775", "UMLS:C5937503"], "information_content": 100.0}
{"id": "HP:0003163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary delta-aminolevulinic acid", "equivalent_identifiers": ["HP:0003163", "UMLS:C1848702"], "information_content": 100.0}
{"id": "MONDO:0004568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paralytic ileus", "equivalent_identifiers": ["MONDO:0004568", "DOID:8442", "UMLS:C0030446", "MEDDRA:10001426", "MEDDRA:10021333", "MEDDRA:10033812", "MEDDRA:10033813", "MEDDRA:10033824", "MEDDRA:10033841", "NCIT:C93045", "SNOMEDCT:55525008", "medgen:18293", "icd11.foundation:1868011045", "ICD10:K56.0", "ICD9:560.1", "HP:0002590"], "information_content": 100.0}
{"id": "HP:6000827", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished tissue fumarylacetoacetate hydrolase activity", "equivalent_identifiers": ["HP:6000827", "UMLS:C5937548"], "information_content": 100.0}
{"id": "MONDO:0030867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 7", "equivalent_identifiers": ["MONDO:0030867", "OMIM:619130", "UMLS:C5436874", "medgen:1768257"], "information_content": 100.0}
{"id": "HP:0033535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced platelet dense granules", "equivalent_identifiers": ["HP:0033535", "UMLS:C5539663"], "information_content": 100.0}
{"id": "MONDO:0030500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome 6", "equivalent_identifiers": ["MONDO:0030500", "DOID:0060964", "OMIM:619656", "UMLS:C5562041", "medgen:1794251"], "information_content": 100.0}
{"id": "HP:0010809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad uvula", "equivalent_identifiers": ["HP:0010809", "UMLS:C3693299"], "information_content": 100.0}
{"id": "HP:0033981", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral artery tortuosity", "equivalent_identifiers": ["HP:0033981", "UMLS:C5195051", "MEDDRA:10087582"], "information_content": 100.0}
{"id": "MONDO:0044632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extracranial carotid artery aneurysm", "equivalent_identifiers": ["MONDO:0044632", "orphanet:494424", "UMLS:C0340639", "UMLS:C4476554", "MEDDRA:10007686", "NCIT:C197835", "SNOMEDCT:233988005", "medgen:1393749", "HP:0012163"], "information_content": 100.0}
{"id": "HP:0034179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral artery aneurysm", "equivalent_identifiers": ["HP:0034179", "NCIT:C197839", "UMLS:C0574027", "MEDDRA:10077498", "SNOMEDCT:297176007"], "information_content": 100.0}
{"id": "MONDO:0032808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 77", "equivalent_identifiers": ["MONDO:0032808", "DOID:0112213", "OMIM:618548", "UMLS:C5231405", "medgen:1684735"], "information_content": 100.0}
{"id": "MONDO:0010088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucosulfatidosis", "equivalent_identifiers": ["MONDO:0010088", "DOID:0050441", "OMIM:272200", "orphanet:585", "UMLS:C0268263", "UMLS:C1720864", "MESH:D052517", "NCIT:C84908", "SNOMEDCT:54898003", "medgen:75664", "icd11.foundation:848083807", "ICD10:E75.26"], "information_content": 100.0}
{"id": "HP:0007307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rapid neurologic deterioration", "equivalent_identifiers": ["HP:0007307", "UMLS:C4024908"], "information_content": 100.0}
{"id": "MONDO:0009075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dandy-Walker malformation-postaxial polydactyly syndrome", "equivalent_identifiers": ["MONDO:0009075", "OMIM:220220", "orphanet:1566", "UMLS:C1857351", "MESH:C535771", "SNOMEDCT:733094005", "medgen:341751"], "information_content": 100.0}
{"id": "HP:0000931", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thinning and bulging of the posterior fossa bones", "equivalent_identifiers": ["HP:0000931", "UMLS:C4021788", "UMLS:C4280608"], "information_content": 100.0}
{"id": "HP:0000933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior fossa cyst at the fourth ventricle", "equivalent_identifiers": ["HP:0000933", "UMLS:C4025816"], "information_content": 100.0}
{"id": "HP:0000930", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated imprint of the transverse sinuses", "equivalent_identifiers": ["HP:0000930", "UMLS:C4025817"], "information_content": 100.0}
{"id": "MONDO:0013714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mannose-binding lectin deficiency", "equivalent_identifiers": ["MONDO:0013714", "OMIM:614372", "UMLS:C3280586", "MESH:C563602", "MEDDRA:10083190", "MEDDRA:10083191", "SNOMEDCT:703538003", "medgen:482216"], "information_content": 100.0}
{"id": "HP:0031699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disseminated cryptosporidium infection", "equivalent_identifiers": ["HP:0031699", "UMLS:C4703487"], "information_content": 100.0}
{"id": "MONDO:0012989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 7, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0012989", "DOID:0070278", "OMIM:612703", "UMLS:C2675187", "MESH:C567198", "medgen:436370"], "information_content": 100.0}
{"id": "MONDO:0013731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEGF10-related myopathy", "equivalent_identifiers": ["MONDO:0013731", "DOID:0111333", "OMIM:614399", "orphanet:439212", "UMLS:C3280679", "SNOMEDCT:1236844002", "medgen:482309"], "information_content": 100.0}
{"id": "MONDO:0054666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 5", "equivalent_identifiers": ["MONDO:0054666", "DOID:0080497", "OMIM:617690", "UMLS:C4540141", "medgen:1627972"], "information_content": 100.0}
{"id": "MONDO:0011841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biotin-responsive basal ganglia disease", "equivalent_identifiers": ["MONDO:0011841", "DOID:0050659", "OMIM:607483", "orphanet:199348", "orphanet:65284", "UMLS:C1843807", "UMLS:C5848322", "MESH:C537658", "SNOMEDCT:703522009", "SNOMEDCT:723557004", "medgen:375289", "icd11.foundation:1776831202"], "information_content": 100.0}
{"id": "HP:0030147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Truncal titubation", "equivalent_identifiers": ["HP:0030147", "UMLS:C2674512"], "information_content": 100.0}
{"id": "MONDO:0011145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0011145", "OMIM:601794", "orphanet:363741", "UMLS:C1866256", "MESH:C566623", "medgen:400954"], "information_content": 100.0}
{"id": "MONDO:0007525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, arthrochalasia type", "equivalent_identifiers": ["MONDO:0007525", "DOID:0080727", "OMIM:130060", "orphanet:1899", "UMLS:C4551623", "MESH:C562625", "NCIT:C125701", "SNOMEDCT:4170004", "medgen:1645042"], "information_content": 92.8}
{"id": "MONDO:0017470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital knee dislocation", "equivalent_identifiers": ["MONDO:0017470", "orphanet:295034", "UMLS:C0265669", "MEDDRA:10010520", "SNOMEDCT:59068006", "medgen:75582", "icd11.foundation:1229590493", "HP:0005191"], "information_content": 92.8}
{"id": "HP:0008780", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital bilateral hip dislocation", "equivalent_identifiers": ["HP:0008780", "UMLS:C0158713", "SNOMEDCT:10155006"], "information_content": 100.0}
{"id": "MONDO:0013248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group O", "equivalent_identifiers": ["MONDO:0013248", "DOID:0111096", "OMIM:613390", "UMLS:C3150653", "NCIT:C176910", "medgen:462003"], "information_content": 92.8}
{"id": "MONDO:0008894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAHMR syndrome", "equivalent_identifiers": ["MONDO:0008894", "OMIM:211770", "orphanet:1375", "UMLS:C0796282", "MESH:C537959", "SNOMEDCT:722379001", "medgen:167117"], "information_content": 100.0}
{"id": "MONDO:0007387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 1", "equivalent_identifiers": ["MONDO:0007387", "DOID:0080505", "OMIM:122470", "UMLS:C4551851", "SNOMEDCT:40354009", "medgen:1645760"], "information_content": 100.0}
{"id": "HP:0008743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coronal hypospadias", "equivalent_identifiers": ["HP:0008743", "UMLS:C1394030", "UMLS:C4020787", "SNOMEDCT:429641000124109"], "information_content": 100.0}
{"id": "HP:0031228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal incisura morphology", "equivalent_identifiers": ["HP:0031228", "UMLS:C4531263"], "information_content": 89.4}
{"id": "MONDO:0011144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ceroid lipofuscinosis, neuronal, 6A", "equivalent_identifiers": ["MONDO:0011144", "DOID:0110729", "OMIM:601780", "orphanet:228363", "UMLS:C1866282", "UMLS:C5551375", "MESH:C566627", "medgen:1790423"], "information_content": 100.0}
{"id": "HP:0001311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nervous system electrophysiology", "equivalent_identifiers": ["HP:0001311", "UMLS:C4021781"], "information_content": 67.1}
{"id": "MONDO:0031052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 106", "equivalent_identifiers": ["MONDO:0031052", "DOID:0070392", "OMIM:620028", "UMLS:C5774212", "medgen:1823985"], "information_content": 100.0}
{"id": "MONDO:0859248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, punctiform and polychromatic pre-descemet", "equivalent_identifiers": ["MONDO:0859248", "OMIM:619871", "UMLS:C5676982", "medgen:1806182"], "information_content": 100.0}
{"id": "HP:0034327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior corneal stroma punctiform multicolored opacities", "equivalent_identifiers": ["HP:0034327", "UMLS:C5706171"], "information_content": 100.0}
{"id": "MONDO:0011376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular fibrillation, paroxysmal familial, type 1", "equivalent_identifiers": ["MONDO:0011376", "OMIM:603829", "UMLS:C2751898", "MESH:C567851", "SNOMEDCT:233915000", "medgen:414502"], "information_content": 100.0}
{"id": "MONDO:0011532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 13", "equivalent_identifiers": ["MONDO:0011532", "DOID:0110766", "OMIM:605280", "orphanet:100994", "UMLS:C1854467", "MESH:C537485", "SNOMEDCT:783698005", "medgen:344289"], "information_content": 100.0}
{"id": "MONDO:0013042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome with B factor anomaly", "equivalent_identifiers": ["MONDO:0013042", "OMIM:612924", "UMLS:C2752038", "medgen:416691"], "information_content": 100.0}
{"id": "MONDO:0859244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phosphoribosylaminoimidazole carboxylase deficiency", "equivalent_identifiers": ["MONDO:0859244", "OMIM:619859", "UMLS:C1291561", "SNOMEDCT:124597000", "medgen:713858"], "information_content": 100.0}
{"id": "MONDO:0054743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic liver disease 3 with or without kidney cysts", "equivalent_identifiers": ["MONDO:0054743", "DOID:0060976", "OMIM:617874", "UMLS:C4693472", "medgen:1646969"], "information_content": 100.0}
{"id": "MONDO:0008231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peyronie disease", "inheritance": "Male-limited autosomal dominant", "equivalent_identifiers": ["MONDO:0008231", "DOID:8616", "OMIM:171000", "EFO:1000466", "UMLS:C0030848", "MESH:D010411", "MEDDRA:10034765", "MEDDRA:10034766", "MEDDRA:10053605", "MEDDRA:10053606", "MEDDRA:10053607", "NCIT:C3316", "SNOMEDCT:1335005", "medgen:10629", "ICD10:N48.6", "ICD9:607.85"], "information_content": 100.0}
{"id": "MONDO:0859215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia, early-onset, and/or spastic paraplegia", "equivalent_identifiers": ["MONDO:0859215", "DOID:0070445", "OMIM:619681", "UMLS:C5562051", "medgen:1794261"], "information_content": 100.0}
{"id": "MONDO:0014392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 25", "equivalent_identifiers": ["MONDO:0014392", "DOID:0080453", "OMIM:615905", "UMLS:C4014621", "NCIT:C168597", "medgen:863058"], "information_content": 100.0}
{"id": "OMIM:175500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cronkhite-Canada Syndrome", "equivalent_identifiers": ["OMIM:175500", "UMLS:C0282207", "MESH:D000098858", "MEDDRA:10062907", "SNOMEDCT:76304001"]}
{"id": "MONDO:0009689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 6", "equivalent_identifiers": ["MONDO:0009689", "DOID:0110671", "OMIM:254210", "UMLS:C0393929", "MESH:C535759", "NCIT:C132292", "SNOMEDCT:230670003", "medgen:140751"], "information_content": 100.0}
{"id": "HP:0002872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apneic episodes precipitated by illness, fatigue, stress", "equivalent_identifiers": ["HP:0002872", "UMLS:C3806462"], "information_content": 100.0}
{"id": "HP:0002882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sudden episodic apnea", "equivalent_identifiers": ["HP:0002882", "UMLS:C4025671"], "information_content": 100.0}
{"id": "HP:0003397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hypotonia due to defect at the neuromuscular junction", "equivalent_identifiers": ["HP:0003397", "UMLS:C1853950"], "information_content": 100.0}
{"id": "MONDO:0958330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 113", "equivalent_identifiers": ["MONDO:0958330", "OMIM:620772", "UMLS:C5935597", "medgen:1859161"], "information_content": 100.0}
{"id": "MONDO:0009817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 5", "equivalent_identifiers": ["MONDO:0009817", "DOID:0110939", "OMIM:259720", "UMLS:C1968603", "MESH:C566883", "medgen:409627"], "information_content": 100.0}
{"id": "HP:0030328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased osteoclast count", "equivalent_identifiers": ["HP:0030328", "UMLS:C4022507"], "information_content": 100.0}
{"id": "MONDO:0014395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 2", "equivalent_identifiers": ["MONDO:0014395", "DOID:0060214", "OMIM:615911", "UMLS:C4014648", "medgen:863085"], "information_content": 100.0}
{"id": "MONDO:0008903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung cancer", "equivalent_identifiers": ["MONDO:0008903", "DOID:1324", "OMIM:211980", "UMLS:C0024624", "UMLS:C0153491", "UMLS:C0153492", "UMLS:C0153493", "UMLS:C0242379", "UMLS:C1968897", "MEDDRA:10007096", "MEDDRA:10025044", "MEDDRA:10025056", "MEDDRA:10058467", "NCIT:C194105", "NCIT:C7377", "SNOMEDCT:269464000", "SNOMEDCT:363358000", "medgen:66885", "ICD10:C34.1", "ICD10:C34.2", "ICD10:C34.3", "ICD9:162.3", "ICD9:162.4", "ICD9:162.5", "ICD9:162.8"], "information_content": 58.9}
{"id": "MONDO:0005233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-small cell lung carcinoma", "equivalent_identifiers": ["MONDO:0005233", "DOID:3908", "EFO:0003060", "UMLS:C0007131", "MESH:D002289", "MEDDRA:10029514", "MEDDRA:10061873", "NCIT:C2926", "SNOMEDCT:254637007", "medgen:40104", "KEGG.DISEASE:05223", "HP:0030358"], "information_content": 65.1}
{"id": "MONDO:0004991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "minimally invasive lung adenocarcinoma", "equivalent_identifiers": ["MONDO:0004991", "DOID:4926", "EFO:0000308", "EFO:1001941", "UMLS:C0007120", "MESH:D002282", "MEDDRA:10006447", "MEDDRA:10049876", "MEDDRA:10058354", "NCIT:C2923", "SNOMEDCT:112677002", "SNOMEDCT:36310008", "SNOMEDCT:373627005", "medgen:2871", "HP:0006519"], "information_content": 90.9}
{"id": "MONDO:0005061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung adenocarcinoma", "equivalent_identifiers": ["MONDO:0005061", "DOID:3910", "EFO:0000571", "UMLS:C0152013", "UMLS:C1335060", "MESH:C538231", "MESH:D000077192", "MEDDRA:10001160", "MEDDRA:10001175", "MEDDRA:10025031", "MEDDRA:10025032", "NCIT:C27745", "NCIT:C3512", "SNOMEDCT:254626006", "medgen:57744", "HP:0030078"], "information_content": 72.5}
{"id": "MONDO:0013038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CLOVES syndrome", "equivalent_identifiers": ["MONDO:0013038", "DOID:0080351", "OMIM:612918", "orphanet:140944", "UMLS:C2752042", "MESH:C567863", "MEDDRA:10083945", "NCIT:C177122", "SNOMEDCT:719475006", "medgen:442876"], "information_content": 100.0}
{"id": "HP:0012721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Venous malformation", "equivalent_identifiers": ["HP:0012721", "UMLS:C2937220", "MEDDRA:10025532", "SNOMEDCT:297222002"], "information_content": 100.0}
{"id": "HP:0100559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb asymmetry", "equivalent_identifiers": ["HP:0100559", "UMLS:C0023221", "SNOMEDCT:45939007", "MESH:D007870"], "information_content": 89.4}
{"id": "MONDO:0009441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Collodion Fetus", "equivalent_identifiers": ["MONDO:0009441", "DOID:0060656", "OMIM:242300", "UMLS:C3536797", "UMLS:C3543867", "UMLS:C4551630", "MESH:D017490", "medgen:1635401"], "information_content": 100.0}
{"id": "MONDO:0031043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 12", "equivalent_identifiers": ["MONDO:0031043", "DOID:0081030", "OMIM:620014", "UMLS:C5774203", "medgen:1823976"], "information_content": 100.0}
{"id": "HP:0025677", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal chylothorax", "equivalent_identifiers": ["HP:0025677", "UMLS:C5676614"], "information_content": 100.0}
{"id": "MONDO:0007545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophilopenia", "equivalent_identifiers": ["MONDO:0007545", "OMIM:131430", "UMLS:C1851586", "NCIT:C113712", "medgen:343610"], "information_content": 100.0}
{"id": "MONDO:0859219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rauch-Steindl syndrome", "equivalent_identifiers": ["MONDO:0859219", "OMIM:619695", "orphanet:659642", "UMLS:C5562061", "MEDDRA:10090741", "medgen:1794271"], "information_content": 100.0}
{"id": "MONDO:0012160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome", "equivalent_identifiers": ["MONDO:0012160", "DOID:0112300", "OMIM:608940", "orphanet:85167", "UMLS:C1837073", "MESH:C563825", "medgen:324684"], "information_content": 100.0}
{"id": "HP:0008821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic inferior ilia", "equivalent_identifiers": ["HP:0008821", "UMLS:C1837078"], "information_content": 100.0}
{"id": "MONDO:0012401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stromal corneal dystrophy", "equivalent_identifiers": ["MONDO:0012401", "DOID:0060445", "OMIM:610048", "orphanet:101068", "UMLS:C1864738", "MESH:C566452", "SNOMEDCT:702359002", "medgen:400601", "icd11.foundation:1796933876", "ICD10:H18.5"], "information_content": 100.0}
{"id": "MONDO:0034109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy with reduced type 2 muscle fibers", "equivalent_identifiers": ["MONDO:0034109", "DOID:0081346", "OMIM:618414", "orphanet:544602", "UMLS:C5193081", "SNOMEDCT:1255274002", "medgen:1672638"], "information_content": 100.0}
{"id": "MONDO:0014641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 4", "equivalent_identifiers": ["MONDO:0014641", "DOID:0110069", "OMIM:616439", "UMLS:C4225325", "medgen:902979"], "information_content": 100.0}
{"id": "MONDO:0007211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-arterial hypertension syndrome", "equivalent_identifiers": ["MONDO:0007211", "DOID:0111247", "OMIM:112410", "orphanet:1276", "UMLS:C1862170", "MESH:C537095", "SNOMEDCT:720568003", "medgen:349445"], "information_content": 100.0}
{"id": "MONDO:0013188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3", "equivalent_identifiers": ["MONDO:0013188", "DOID:0070558", "OMIM:613227", "UMLS:C2750509", "MESH:C567690", "medgen:442496"], "information_content": 100.0}
{"id": "MONDO:0011281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 5", "equivalent_identifiers": ["MONDO:0011281", "DOID:0110667", "OMIM:603034", "UMLS:C1864233", "MESH:C566415", "NCIT:C129304", "medgen:400481"], "information_content": 100.0}
{"id": "HP:0003436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged miniature endplate currents", "equivalent_identifiers": ["HP:0003436", "UMLS:C1864238"], "information_content": 100.0}
{"id": "MONDO:0014294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q11.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0014294", "DOID:0060393", "OMIM:615656", "orphanet:261183", "UMLS:C3180937", "medgen:467404"], "information_content": 100.0}
{"id": "MONDO:0010150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "head and neck squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0010150", "DOID:5520", "OMIM:275355", "EFO:0000181", "UMLS:C1168401", "MESH:C535575", "MESH:D000077195", "MEDDRA:10060121", "NCIT:C34447", "SNOMEDCT:716659002", "medgen:257911"], "information_content": 62.2}
{"id": "MONDO:0014880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duane retraction syndrome 3 with or without deafness", "equivalent_identifiers": ["MONDO:0014880", "DOID:0061029", "OMIM:617041", "UMLS:C4310752", "medgen:934719"], "information_content": 100.0}
{"id": "MONDO:0024463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 1", "equivalent_identifiers": ["MONDO:0024463", "DOID:0080493", "OMIM:233300", "UMLS:C0949595", "medgen:215397"], "information_content": 100.0}
{"id": "MONDO:0018794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "equivalent_identifiers": ["MONDO:0018794", "OMIM:618372", "orphanet:477787", "EFO:0010263", "UMLS:C5567651", "SNOMEDCT:1172901009", "medgen:1799074"], "information_content": 100.0}
{"id": "HP:0032244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum thromboxane B2", "equivalent_identifiers": ["HP:0032244", "UMLS:C3279980"], "information_content": 100.0}
{"id": "HP:0030361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating eicosanoid concentration", "equivalent_identifiers": ["HP:0030361", "UMLS:C4072901"], "information_content": 88.2}
{"id": "HP:0032575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating 12-HETE", "equivalent_identifiers": ["HP:0032575", "UMLS:C5397602"], "information_content": 100.0}
{"id": "MONDO:0024561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitelliform macular dystrophy 3", "equivalent_identifiers": ["MONDO:0024561", "OMIM:608161"], "information_content": 100.0}
{"id": "HP:0012508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metamorphopsia", "equivalent_identifiers": ["HP:0012508", "UMLS:C0271185", "MEDDRA:10063341", "MEDDRA:10068171", "SNOMEDCT:42134006"], "information_content": 100.0}
{"id": "MONDO:0000390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitelliform macular dystrophy", "equivalent_identifiers": ["MONDO:0000390", "DOID:0050661", "OMIM.PS:153840", "UMLS:C0339510", "UMLS:C4024817", "MESH:D057826", "MEDDRA:10074147", "NCIT:C118788", "SNOMEDCT:90036004", "medgen:137920", "HP:0007677"], "information_content": 87.2}
{"id": "MONDO:0014890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PERCHING syndrome", "equivalent_identifiers": ["MONDO:0014890", "DOID:0080331", "OMIM:617055", "orphanet:603684", "UMLS:C4310742", "SNOMEDCT:1304116002", "medgen:934709"], "information_content": 100.0}
{"id": "MONDO:0008481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck Arthritis", "equivalent_identifiers": ["MONDO:0008481", "OMIM:184300", "EFO:0009610", "UMLS:C0263854", "UMLS:C1384641", "MEDDRA:10003265", "MEDDRA:10008314", "MEDDRA:10008315", "NCIT:C27041", "SNOMEDCT:387800004", "SNOMEDCT:387801000", "medgen:235174", "HP:0008480"], "information_content": 100.0}
{"id": "MONDO:0011982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune thyroid disease, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0011982", "OMIM:608175", "UMLS:C1842444", "medgen:374932"], "information_content": 100.0}
{"id": "MONDO:0009999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive Robinow syndrome", "equivalent_identifiers": ["MONDO:0009999", "DOID:0060764", "OMIM:268310", "orphanet:1507", "UMLS:C1849334", "UMLS:C3151609", "UMLS:C3151610", "UMLS:C5399974", "MESH:C535863", "SNOMEDCT:890237005", "medgen:1770070", "icd11.foundation:793292660"], "information_content": 100.0}
{"id": "HP:0005648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral ulnar hypoplasia", "equivalent_identifiers": ["HP:0005648", "UMLS:C4025166"], "information_content": 100.0}
{"id": "MONDO:0007092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1B", "equivalent_identifiers": ["MONDO:0007092", "DOID:0110052", "OMIM:104500", "UMLS:C0399368", "MESH:C562879", "SNOMEDCT:234961008", "medgen:97993", "ICD10:K00.5"], "information_content": 100.0}
{"id": "MONDO:0008388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pili annulati", "equivalent_identifiers": ["MONDO:0008388", "OMIM:180600", "orphanet:169", "UMLS:C0263489", "MESH:C537187", "SNOMEDCT:21926007", "medgen:75523"], "information_content": 100.0}
{"id": "MONDO:0032728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, type 2EE", "equivalent_identifiers": ["MONDO:0032728", "DOID:0111559", "OMIM:618400", "UMLS:C5193076", "medgen:1677426"], "information_content": 100.0}
{"id": "MONDO:0007868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperekplexia 1", "equivalent_identifiers": ["MONDO:0007868", "DOID:0060696", "OMIM:149400", "UMLS:C4551954", "medgen:1647581"], "information_content": 100.0}
{"id": "MONDO:0010483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Cantagrel type", "equivalent_identifiers": ["MONDO:0010483", "DOID:0112044", "OMIM:300912", "orphanet:85277", "UMLS:C3806730", "UMLS:C4305023", "SNOMEDCT:719016007", "medgen:813060"], "information_content": 100.0}
{"id": "HP:0010519", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fetal movement", "equivalent_identifiers": ["HP:0010519", "UMLS:C4021256", "MEDDRA:10086915", "MEDDRA:10086921"], "information_content": 100.0}
{"id": "HP:0025650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Steroid-dependent nephrotic syndrome", "equivalent_identifiers": ["HP:0025650", "NCIT:C122799", "UMLS:C0403398", "SNOMEDCT:236382007"], "information_content": 100.0}
{"id": "MONDO:0005582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "binge eating", "equivalent_identifiers": ["MONDO:0005582", "EFO:0005924", "UMLS:C0006370", "UMLS:C0596170", "MESH:D002032", "MESH:D056912", "MEDDRA:10004716", "MEDDRA:10006549", "NCIT:C97162", "SNOMEDCT:439960005", "medgen:154543", "icd11.foundation:1673294767", "HP:0100739"], "information_content": 100.0}
{"id": "MONDO:0007985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metatarsus varus, type 1", "equivalent_identifiers": ["MONDO:0007985", "OMIM:156520", "UMLS:C1834968", "MESH:C563585", "medgen:331870"], "information_content": 100.0}
{"id": "MONDO:0013633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, acute, infection-induced, susceptibility to, 4", "equivalent_identifiers": ["MONDO:0013633", "OMIM:614212", "UMLS:C3280160", "medgen:481790"], "information_content": 100.0}
{"id": "MONDO:0007923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly, benign familial", "equivalent_identifiers": ["MONDO:0007923", "OMIM:153470", "UMLS:C0220690", "MESH:C537717", "medgen:113101"], "information_content": 100.0}
{"id": "MONDO:0011850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with or without aura, susceptibility to, 5", "equivalent_identifiers": ["MONDO:0011850", "OMIM:607508", "UMLS:C1843771", "medgen:334831"], "information_content": 100.0}
{"id": "MONDO:0030674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Teebi hypertelorism syndrome 2", "equivalent_identifiers": ["MONDO:0030674", "DOID:0081074", "OMIM:619736", "UMLS:C5676911", "medgen:1809276"], "information_content": 100.0}
{"id": "MONDO:0011640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "genitopatellar syndrome", "equivalent_identifiers": ["MONDO:0011640", "OMIM:606170", "orphanet:85201", "UMLS:C1853566", "MESH:C565255", "SNOMEDCT:702367005", "medgen:381208"], "information_content": 100.0}
{"id": "HP:0004794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malrotation of small bowel", "equivalent_identifiers": ["HP:0004794", "UMLS:C1860244", "SNOMEDCT:1003433008"], "information_content": 100.0}
{"id": "HP:0008823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inferior pubic ramus hypoplasia", "equivalent_identifiers": ["HP:0008823", "UMLS:C1853573"], "information_content": 100.0}
{"id": "MONDO:0010895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABCD syndrome", "equivalent_identifiers": ["MONDO:0010895", "DOID:0050600", "OMIM:600501", "UMLS:C1838099", "MESH:C535334", "medgen:333014"], "information_content": 100.0}
{"id": "MONDO:0007846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "KBG syndrome", "equivalent_identifiers": ["MONDO:0007846", "DOID:14780", "OMIM:148050", "orphanet:2332", "UMLS:C0220687", "MESH:C537015", "MEDDRA:10084411", "SNOMEDCT:711156009", "medgen:66317", "icd11.foundation:465550090"], "information_content": 100.0}
{"id": "HP:0008438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebral arch anomaly", "equivalent_identifiers": ["HP:0008438", "UMLS:C1835764"], "information_content": 75.2}
{"id": "MONDO:0007999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 2", "equivalent_identifiers": ["MONDO:0007999", "DOID:0110872", "OMIM:157170", "UMLS:C1834877", "MESH:C563579", "NCIT:C74995", "medgen:322517"], "information_content": 92.8}
{"id": "MONDO:0009349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cyclocephaly", "equivalent_identifiers": ["MONDO:0009349", "DOID:0110881", "OMIM:236100", "UMLS:C0266667", "MESH:C562573", "MEDDRA:10057648", "NCIT:C124522", "NCIT:C75476", "SNOMEDCT:205798005", "medgen:78617", "HP:0009914"], "information_content": 100.0}
{"id": "HP:0005273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent nasal septal cartilage", "equivalent_identifiers": ["HP:0005273", "UMLS:C4021638", "UMLS:C4280501"], "information_content": 95.4}
{"id": "HP:0010757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the premaxilla", "equivalent_identifiers": ["HP:0010757", "UMLS:C4023712", "SNOMEDCT:1145464007"], "information_content": 100.0}
{"id": "MONDO:0007098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACys amyloidosis", "equivalent_identifiers": ["MONDO:0007098", "DOID:0070027", "OMIM:105150", "orphanet:100008", "UMLS:C1527338", "SNOMEDCT:703220002", "medgen:279656"], "information_content": 100.0}
{"id": "MONDO:0011559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign recurrent intrahepatic cholestasis type 2", "equivalent_identifiers": ["MONDO:0011559", "DOID:0070232", "OMIM:605479", "orphanet:99961", "UMLS:C2608083", "MESH:C535934", "medgen:435857"], "information_content": 95.4}
{"id": "MONDO:0008403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scalp defects-postaxial polydactyly syndrome", "equivalent_identifiers": ["MONDO:0008403", "OMIM:181250", "orphanet:1003", "UMLS:C1867021", "MESH:C536622", "medgen:401140"], "information_content": 100.0}
{"id": "MONDO:0009353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homocystinuria due to methylene tetrahydrofolate reductase deficiency", "equivalent_identifiers": ["MONDO:0009353", "OMIM:236250", "orphanet:395", "UMLS:C0268615", "UMLS:C1856059", "UMLS:C1856061", "MESH:C537357", "MESH:C565512", "MEDDRA:10070309", "MEDDRA:10070316", "NCIT:C84524", "SNOMEDCT:41797007", "medgen:343470"], "information_content": 100.0}
{"id": "MONDO:0012228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 8", "equivalent_identifiers": ["MONDO:0012228", "OMIM:609257", "UMLS:C1836505", "MESH:C563760", "medgen:332223"], "information_content": 100.0}
{"id": "MONDO:0011639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis", "equivalent_identifiers": ["MONDO:0011639", "DOID:0111894", "OMIM:606164", "UMLS:C4225411", "medgen:902755"], "information_content": 100.0}
{"id": "MONDO:0001609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agranulocytosis", "equivalent_identifiers": ["MONDO:0001609", "DOID:12987", "UMLS:C0001824", "UMLS:C4551627", "MESH:D000380", "MEDDRA:10001507", "MEDDRA:10018687", "NCIT:C2863", "SNOMEDCT:17182001", "SNOMEDCT:417672002", "medgen:7932", "icd11.foundation:1913706366", "HP:0001913"], "information_content": 68.2}
{"id": "MONDO:0009915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX disorder of sex development-skeletal anomalies syndrome", "equivalent_identifiers": ["MONDO:0009915", "OMIM:264270", "orphanet:2975", "UMLS:C1849696", "MESH:C564869", "medgen:341514"], "information_content": 100.0}
{"id": "HP:0005790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short mandibular condyles", "equivalent_identifiers": ["HP:0005790", "UMLS:C4025134", "UMLS:C4280474", "UMLS:C4280475"], "information_content": 90.9}
{"id": "HP:0005856", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulnar radial head dislocation", "equivalent_identifiers": ["HP:0005856", "UMLS:C4021619"], "information_content": 100.0}
{"id": "MONDO:0033622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 44", "equivalent_identifiers": ["MONDO:0033622", "DOID:0112109", "OMIM:619044", "UMLS:C5436678", "medgen:1750188"], "information_content": 100.0}
{"id": "MONDO:0014898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "equivalent_identifiers": ["MONDO:0014898", "DOID:0111523", "OMIM:617069", "UMLS:C4310734", "medgen:934701"], "information_content": 100.0}
{"id": "MONDO:0011975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal uniparental disomy of chromosome 14", "equivalent_identifiers": ["MONDO:0011975", "OMIM:608149", "orphanet:96334", "UMLS:C1842466", "UMLS:C5680251", "MESH:C536471", "SNOMEDCT:1003872003", "medgen:1843450", "icd11.foundation:1835121942"], "information_content": 100.0}
{"id": "MONDO:0012541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness with labyrinthine aplasia, microtia, and microdontia", "equivalent_identifiers": ["MONDO:0012541", "OMIM:610706", "orphanet:90024", "UMLS:C1853144", "MESH:C565195", "SNOMEDCT:702360007", "medgen:342803"], "information_content": 100.0}
{"id": "HP:6000376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jugular foramen stenosis", "equivalent_identifiers": ["HP:6000376", "UMLS:C2674495"], "information_content": 100.0}
{"id": "HP:0011372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the inner ear", "equivalent_identifiers": ["HP:0011372", "UMLS:C0266604", "SNOMEDCT:71973003"], "information_content": 95.4}
{"id": "MONDO:0010856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis", "equivalent_identifiers": ["MONDO:0010856", "OMIM:600273", "orphanet:88924", "UMLS:C1838327", "MESH:C536328", "NCIT:C177539", "SNOMEDCT:765331004", "medgen:325000", "icd11.foundation:1781576728"], "information_content": 100.0}
{"id": "MONDO:0014627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 27", "equivalent_identifiers": ["MONDO:0014627", "DOID:0090050", "OMIM:616411", "orphanet:464440", "UMLS:C4225336", "SNOMEDCT:1220573009", "medgen:907580"], "information_content": 100.0}
{"id": "MONDO:0013315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 57", "equivalent_identifiers": ["MONDO:0013315", "DOID:0110407", "OMIM:613582", "UMLS:C3150821", "medgen:462171"], "information_content": 100.0}
{"id": "MONDO:0011010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Matthew-Wood syndrome", "equivalent_identifiers": ["MONDO:0011010", "DOID:0111807", "OMIM:601186", "orphanet:2470", "UMLS:C1832661", "MESH:C537768", "SNOMEDCT:722458000", "medgen:318679"], "information_content": 100.0}
{"id": "HP:0005311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of pulmonary vessels", "equivalent_identifiers": ["HP:0005311", "UMLS:C1970630"], "information_content": 100.0}
{"id": "HP:0020186", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multilobulated spleen", "equivalent_identifiers": ["HP:0020186", "UMLS:C4538849"], "information_content": 100.0}
{"id": "MONDO:0859257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism", "equivalent_identifiers": ["MONDO:0859257", "OMIM:619911", "orphanet:660017", "UMLS:C5677001", "medgen:1805453"], "information_content": 95.4}
{"id": "HP:0034316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thinning of the substantia nigra pars compacta", "equivalent_identifiers": ["HP:0034316", "UMLS:C5706162"], "information_content": 100.0}
{"id": "MONDO:0859574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis, annular epidermolytic, 2", "equivalent_identifiers": ["MONDO:0859574", "OMIM:620148", "UMLS:C5774264", "medgen:1824037"], "information_content": 100.0}
{"id": "MONDO:0014904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IAA", "equivalent_identifiers": ["MONDO:0014904", "DOID:0080553", "OMIM:617082", "UMLS:C4310727", "medgen:934694"], "information_content": 100.0}
{"id": "MONDO:0008746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 2", "equivalent_identifiers": ["MONDO:0008746", "DOID:0070096", "OMIM:203200", "orphanet:79432", "UMLS:C0268495", "UMLS:C0268497", "MESH:C537730", "MESH:C562662", "SNOMEDCT:11160000", "SNOMEDCT:26336006", "medgen:82810", "icd11.foundation:2019316252"], "information_content": 100.0}
{"id": "MONDO:0009618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-cardiomyopathy syndrome", "equivalent_identifiers": ["MONDO:0009618", "OMIM:251220", "orphanet:2515", "UMLS:C1855080", "MESH:C536711", "SNOMEDCT:719380003", "medgen:381554"], "information_content": 100.0}
{"id": "MONDO:0014302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 62", "equivalent_identifiers": ["MONDO:0014302", "DOID:0110813", "OMIM:615681", "orphanet:401785", "UMLS:C4284588", "SNOMEDCT:765045003", "medgen:924879"], "information_content": 100.0}
{"id": "MONDO:0014371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 23", "equivalent_identifiers": ["MONDO:0014371", "DOID:0080415", "OMIM:615859", "orphanet:411986", "UMLS:C4014492", "medgen:862929"], "information_content": 100.0}
{"id": "MONDO:0007529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "elastosis perforans serpiginosa", "equivalent_identifiers": ["MONDO:0007529", "OMIM:130100", "orphanet:79148", "UMLS:C0221271", "MESH:C536202", "MEDDRA:10014338", "SNOMEDCT:49428008", "medgen:65137", "icd11.foundation:1430012917"], "information_content": 100.0}
{"id": "MONDO:0012582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial lung disease due to ABCA3 deficiency", "equivalent_identifiers": ["MONDO:0012582", "OMIM:610921", "orphanet:440402", "UMLS:C1970456", "MESH:C567046", "NCIT:C99070", "SNOMEDCT:1222678003", "medgen:410074"], "information_content": 100.0}
{"id": "HP:0033649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paraseptal emphysema", "equivalent_identifiers": ["HP:0033649", "UMLS:C0264394", "UMLS:C2216326", "MEDDRA:10069913", "SNOMEDCT:31898008"], "information_content": 100.0}
{"id": "HP:0032980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent bronchoalveolar surfactant-protein C", "equivalent_identifiers": ["HP:0032980", "UMLS:C5397972"], "information_content": 100.0}
{"id": "HP:0025392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nodular pattern on pulmonary HRCT", "equivalent_identifiers": ["HP:0025392", "UMLS:C4476750"], "information_content": 89.4}
{"id": "HP:0025391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crazy paving pattern", "equivalent_identifiers": ["HP:0025391", "UMLS:C4476749", "MESH:C000721427"], "information_content": 100.0}
{"id": "HP:0025390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticular pattern on pulmonary HRCT", "equivalent_identifiers": ["HP:0025390", "UMLS:C4476748"], "information_content": 100.0}
{"id": "MONDO:0019622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-specific interstitial pneumonia", "equivalent_identifiers": ["MONDO:0019622", "DOID:2801", "orphanet:91364", "UMLS:C1290344", "MEDDRA:10089302", "NCIT:C35717", "SNOMEDCT:129452008", "medgen:220936", "HP:0033584"], "information_content": 92.8}
{"id": "MONDO:0054771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus 9", "equivalent_identifiers": ["MONDO:0054771", "OMIM:617928", "UMLS:C4693660", "medgen:1645093"], "information_content": 100.0}
{"id": "MONDO:0008363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "raindrop hypopigmentation", "equivalent_identifiers": ["MONDO:0008363", "OMIM:179500", "UMLS:C1867393", "MESH:C566724", "medgen:356767"], "information_content": 100.0}
{"id": "MONDO:0010409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Shrimpton type", "equivalent_identifiers": ["MONDO:0010409", "DOID:0060813", "OMIM:300709", "orphanet:85324", "UMLS:C2678039", "MESH:C567474", "medgen:395523"], "information_content": 100.0}
{"id": "MONDO:0007594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor 5 excess with spontaneous thrombosis", "equivalent_identifiers": ["MONDO:0007594", "OMIM:134400", "UMLS:C1851378", "MESH:C565026", "medgen:341996"], "information_content": 100.0}
{"id": "HP:0011996", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated coagulation factor V activity", "equivalent_identifiers": ["HP:0011996", "UMLS:C4021106"], "information_content": 95.4}
{"id": "MONDO:0007746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orthostatic hypotensive disorder, Streeten type", "equivalent_identifiers": ["MONDO:0007746", "OMIM:143850", "UMLS:C1840438", "MESH:C564174", "medgen:327101"], "information_content": 100.0}
{"id": "MONDO:0007112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interventricular septum aneurysm", "equivalent_identifiers": ["MONDO:0007112", "OMIM:105805", "orphanet:99092", "UMLS:C1387721", "MESH:C563239", "medgen:234648"], "information_content": 100.0}
{"id": "HP:0010438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ventricular septum morphology", "equivalent_identifiers": ["HP:0010438", "UMLS:C4021264"], "information_content": 77.1}
{"id": "MONDO:0054754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8", "equivalent_identifiers": ["MONDO:0054754", "OMIM:617900", "UMLS:C4693542", "medgen:1646997"], "information_content": 100.0}
{"id": "MONDO:0859340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 27B, late-onset", "equivalent_identifiers": ["MONDO:0859340", "OMIM:620174", "orphanet:675216", "EFO:0022191", "UMLS:C5774278", "medgen:1824051"], "information_content": 100.0}
{"id": "MONDO:0014377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 24", "equivalent_identifiers": ["MONDO:0014377", "DOID:0080429", "OMIM:615871", "UMLS:C4014531", "medgen:862968"], "information_content": 100.0}
{"id": "MONDO:0010231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 20", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0010231", "DOID:0112023", "OMIM:300047", "UMLS:C0796226", "MESH:C563142", "medgen:208677"], "information_content": 100.0}
{"id": "MONDO:0008015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "motion sickness", "equivalent_identifiers": ["MONDO:0008015", "DOID:2951", "OMIM:158280", "EFO:0006928", "UMLS:C0026603", "MESH:D009041", "MEDDRA:10027990", "MEDDRA:10044548", "MEDDRA:10044549", "NCIT:C34824", "SNOMEDCT:37031009", "medgen:44503", "icd11.foundation:1078108554", "ICD10:T75.3", "ICD9:994.6"], "information_content": 90.9}
{"id": "MONDO:0033670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 116", "equivalent_identifiers": ["MONDO:0033670", "DOID:0112162", "OMIM:619093", "UMLS:C5436789", "medgen:1726617"], "information_content": 100.0}
{"id": "MONDO:0957958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 72b, autosomal recessive", "equivalent_identifiers": ["MONDO:0957958", "OMIM:620606", "UMLS:C5882720", "medgen:1844131"], "information_content": 100.0}
{"id": "MONDO:0033669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 13", "equivalent_identifiers": ["MONDO:0033669", "DOID:0112161", "OMIM:619087", "UMLS:C5436773", "NCIT:C177121", "medgen:1761918"], "information_content": 100.0}
{"id": "MONDO:0008740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Otocephaly", "equivalent_identifiers": ["MONDO:0008740", "DOID:0060341", "OMIM:202650", "orphanet:990", "UMLS:C0265242", "UMLS:C1876185", "MESH:C537996", "MESH:C562503", "MEDDRA:10058118", "NCIT:C124568", "SNOMEDCT:48180002", "medgen:78541", "ICD10:Q18.2"], "information_content": 100.0}
{"id": "HP:0009939", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent mandible", "equivalent_identifiers": ["HP:0009939", "UMLS:C0685775", "UMLS:C0685776", "UMLS:C4021371", "MEDDRA:10091259", "SNOMEDCT:1003566009", "SNOMEDCT:91896009", "SNOMEDCT:91922000"], "information_content": 100.0}
{"id": "HP:0012730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aglossia", "equivalent_identifiers": ["HP:0012730", "UMLS:C0158663", "MEDDRA:10001501", "SNOMEDCT:74788000"], "information_content": 95.4}
{"id": "HP:0100663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synotia", "equivalent_identifiers": ["HP:0100663", "UMLS:C0266677", "SNOMEDCT:77471004"], "information_content": 100.0}
{"id": "MONDO:0054761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 20, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0054761", "DOID:0051031", "OMIM:617914", "UMLS:C4693572", "medgen:1641618"], "information_content": 100.0}
{"id": "MONDO:0012020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 22q11.2 microduplication syndrome", "equivalent_identifiers": ["MONDO:0012020", "DOID:0060436", "OMIM:608363", "orphanet:1727", "UMLS:C2675369", "MESH:C567224", "SNOMEDCT:699311001", "medgen:436417"], "information_content": 95.4}
{"id": "MONDO:0100095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures", "equivalent_identifiers": ["MONDO:0100095", "DOID:0070352", "OMIM:618170", "UMLS:C4748527", "medgen:1648391"], "information_content": 100.0}
{"id": "MONDO:0014985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group V", "equivalent_identifiers": ["MONDO:0014985", "DOID:0111080", "OMIM:617243", "UMLS:C4310652", "medgen:934619"], "information_content": 100.0}
{"id": "MONDO:0010199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "white forelock with malformations", "equivalent_identifiers": ["MONDO:0010199", "OMIM:277740", "orphanet:2475", "UMLS:C1848463", "MESH:C536700", "SNOMEDCT:763619009", "medgen:376362"], "information_content": 100.0}
{"id": "HP:0007457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent veins on trunk", "equivalent_identifiers": ["HP:0007457", "UMLS:C4024871"], "information_content": 100.0}
{"id": "MONDO:0011474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial heart block type IB", "equivalent_identifiers": ["MONDO:0011474", "DOID:0111076", "OMIM:604559", "UMLS:C1970298", "MESH:C567037", "SNOMEDCT:698250005", "medgen:370220"], "information_content": 100.0}
{"id": "MONDO:0013400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "equivalent_identifiers": ["MONDO:0013400", "DOID:0050546", "OMIM:613743", "orphanet:168558", "UMLS:C3151055", "UMLS:C3502131", "MESH:C566130", "NCIT:C131422", "medgen:462405"], "information_content": 100.0}
{"id": "HP:0011749", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenocorticotropic hormone excess", "equivalent_identifiers": ["HP:0011749", "UMLS:C4021124"], "information_content": 100.0}
{"id": "MONDO:0017454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triphalangeal thumb-polysyndactyly syndrome", "equivalent_identifiers": ["MONDO:0017454", "OMIM:190605", "UMLS:C5779878", "SNOMEDCT:719950001", "medgen:1830424"], "information_content": 100.0}
{"id": "MONDO:0007914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lumbar stenosis, familial", "equivalent_identifiers": ["MONDO:0007914", "OMIM:152550", "UMLS:C1835320", "MESH:C563613", "medgen:372016"], "information_content": 100.0}
{"id": "MONDO:0044753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lumbar spinal stenosis", "equivalent_identifiers": ["MONDO:0044753", "UMLS:C0158288", "MEDDRA:10025005", "MEDDRA:10041595", "MEDDRA:10041597", "NCIT:C177445", "SNOMEDCT:18347007", "medgen:488791", "HP:0004610"], "information_content": 100.0}
{"id": "MONDO:0007457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diastema, dental medial", "equivalent_identifiers": ["MONDO:0007457", "OMIM:125900", "UMLS:C1852086", "MESH:C565098", "medgen:342157"], "information_content": 100.0}
{"id": "MONDO:0008202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parotidomegaly, hereditary bilateral", "equivalent_identifiers": ["MONDO:0008202", "OMIM:168800", "UMLS:C1868590", "MESH:C566821", "medgen:401477"], "information_content": 100.0}
{"id": "MONDO:0976229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 131", "equivalent_identifiers": ["MONDO:0976229", "DOID:0061125", "OMIM:621097"], "information_content": 100.0}
{"id": "HP:6001166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spongiosis", "equivalent_identifiers": ["HP:6001166"], "information_content": 100.0}
{"id": "HP:0025021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal erythrocyte sedimentation rate", "equivalent_identifiers": ["HP:0025021", "UMLS:C0438217", "MEDDRA:10015259", "MEDDRA:10015260", "MEDDRA:10015478", "MEDDRA:10049186", "SNOMEDCT:165465007"], "information_content": 92.8}
{"id": "HP:0410392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CD8+ memory T cell proportion", "equivalent_identifiers": ["HP:0410392", "UMLS:C5139553"], "information_content": 90.9}
{"id": "HP:6000647", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bulging fontanelle", "equivalent_identifiers": ["HP:6000647", "NCIT:C116897", "UMLS:C0235014", "MEDDRA:10016944", "MEDDRA:10016945", "SNOMEDCT:103019006"], "information_content": 100.0}
{"id": "HP:0020071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Viremia", "equivalent_identifiers": ["HP:0020071", "UMLS:C0042749", "MEDDRA:10046231", "MEDDRA:10046237", "MEDDRA:10047431", "MEDDRA:10047434", "MEDDRA:10054688", "MEDDRA:10054691", "MEDDRA:10058874", "MEDDRA:10071362", "SNOMEDCT:2528003", "SNOMEDCT:770349000", "MESH:D014766"], "information_content": 90.9}
{"id": "HP:6000263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papillary dermal edema", "equivalent_identifiers": ["HP:6000263", "UMLS:C3280725"], "information_content": 100.0}
{"id": "HP:0031378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lymphocyte proliferation", "equivalent_identifiers": ["HP:0031378", "UMLS:C4531169"], "information_content": 85.5}
{"id": "MONDO:0000261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenoiditis", "equivalent_identifiers": ["MONDO:0000261", "DOID:0050145", "UMLS:C0001427", "UMLS:C0396023", "MEDDRA:10051223", "SNOMEDCT:232420002", "SNOMEDCT:70020005", "medgen:507401", "ICD10:J35.02", "ICD9:474.01", "HP:0031458"], "information_content": 100.0}
{"id": "MONDO:0010806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 13", "equivalent_identifiers": ["MONDO:0010806", "DOID:0110403", "OMIM:600059", "UMLS:C1838702", "MESH:C564008", "medgen:325486"], "information_content": 100.0}
{"id": "MONDO:0033013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis et progressiva 3", "equivalent_identifiers": ["MONDO:0033013", "DOID:0080249", "OMIM:617525", "UMLS:C4479619", "medgen:1380593"], "information_content": 100.0}
{"id": "MONDO:0957284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 5C, autosomal dominant", "equivalent_identifiers": ["MONDO:0957284", "DOID:0081375", "OMIM:620389", "UMLS:C5830549", "medgen:1841185"], "information_content": 100.0}
{"id": "MONDO:0011903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2J", "equivalent_identifiers": ["MONDO:0011903", "DOID:0110157", "OMIM:607736", "orphanet:99943", "UMLS:C1843153", "MESH:C535417", "SNOMEDCT:717014003", "medgen:375107", "icd11.foundation:1498789307"], "information_content": 100.0}
{"id": "HP:0033362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent coughing spasms", "equivalent_identifiers": ["HP:0033362", "UMLS:C3807726"], "information_content": 100.0}
{"id": "MONDO:0011049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fine-Lubinsky syndrome", "equivalent_identifiers": ["MONDO:0011049", "OMIM:601353", "orphanet:1272", "UMLS:C0795941", "MESH:C537933", "SNOMEDCT:720955004", "medgen:163198"], "information_content": 100.0}
{"id": "MONDO:0013406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 6", "equivalent_identifiers": ["MONDO:0013406", "DOID:0110018", "OMIM:613757", "UMLS:C3151060", "MESH:C563674", "medgen:462410"], "information_content": 100.0}
{"id": "MONDO:0013540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-lymphedema-leukemia syndrome", "equivalent_identifiers": ["MONDO:0013540", "OMIM:614038", "UMLS:C3279664", "SNOMEDCT:700057001", "medgen:481294"], "information_content": 100.0}
{"id": "MONDO:0009864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phosphoenolpyruvate carboxykinase deficiency, mitochondrial", "equivalent_identifiers": ["MONDO:0009864", "OMIM:261650", "UMLS:C1849821", "MESH:C564890", "medgen:376665"], "information_content": 100.0}
{"id": "MONDO:0014190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 17", "equivalent_identifiers": ["MONDO:0014190", "DOID:0111496", "OMIM:615440", "orphanet:369913", "UMLS:C3809526", "SNOMEDCT:775908005", "medgen:815856"], "information_content": 100.0}
{"id": "MONDO:0009222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gollop-Wolfgang complex", "equivalent_identifiers": ["MONDO:0009222", "OMIM:228250", "orphanet:1986", "UMLS:C1856789", "MESH:C537917", "MEDDRA:10079731", "SNOMEDCT:716006003", "medgen:341622"], "information_content": 100.0}
{"id": "HP:0200054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foot monodactyly", "equivalent_identifiers": ["HP:0200054", "UMLS:C4021896"], "information_content": 100.0}
{"id": "MONDO:0032572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac, facial, and digital anomalies with developmental delay", "equivalent_identifiers": ["MONDO:0032572", "OMIM:618164", "UMLS:C4748484", "NCIT:C179868", "medgen:1648330"], "information_content": 100.0}
{"id": "MONDO:0017870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supravalvular pulmonary stenosis", "equivalent_identifiers": ["MONDO:0017870", "orphanet:3192", "UMLS:C3280212", "medgen:481842", "HP:0034349"], "information_content": 100.0}
{"id": "HP:0010813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal number of hair whorls", "equivalent_identifiers": ["HP:0010813", "UMLS:C4023695"], "information_content": 100.0}
{"id": "MONDO:0012192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome", "equivalent_identifiers": ["MONDO:0012192", "OMIM:609069", "orphanet:65288", "UMLS:C1836780", "MESH:C563796", "medgen:332288"], "information_content": 100.0}
{"id": "MONDO:0011199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephropathy, progressive tubulointerstitial, with cholestatic liver disease", "equivalent_identifiers": ["MONDO:0011199", "OMIM:602114", "UMLS:C1865831", "MESH:C566573", "medgen:355562"], "information_content": 100.0}
{"id": "HP:0001969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tubulointerstitial morphology", "equivalent_identifiers": ["HP:0001969", "UMLS:C4025732"], "information_content": 84.8}
{"id": "MONDO:0014197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to MALT1 deficiency", "equivalent_identifiers": ["MONDO:0014197", "DOID:0111988", "OMIM:615468", "orphanet:397964", "UMLS:C3809583", "medgen:815913"], "information_content": 100.0}
{"id": "HP:0410293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent isohemagglutinin level", "equivalent_identifiers": ["HP:0410293", "UMLS:C5139456"], "information_content": 100.0}
{"id": "HP:0040088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lymphocyte count", "equivalent_identifiers": ["HP:0040088", "UMLS:C0580550", "MEDDRA:10025252", "MEDDRA:10025253", "SNOMEDCT:165534000"], "information_content": 60.5}
{"id": "HP:0000660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lipemia retinalis", "equivalent_identifiers": ["HP:0000660", "UMLS:C0339477", "MEDDRA:10049935", "SNOMEDCT:95692001"], "information_content": 100.0}
{"id": "HP:6000201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic glucose-6-phosphate translocase activity", "equivalent_identifiers": ["HP:6000201", "UMLS:C5937033"], "information_content": 100.0}
{"id": "MONDO:0012181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 27", "equivalent_identifiers": ["MONDO:0012181", "DOID:0110778", "OMIM:609041", "orphanet:101007", "UMLS:C1836899", "MESH:C563807", "SNOMEDCT:778030005", "medgen:373203"], "information_content": 100.0}
{"id": "HP:0005340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spastic/hyperactive bladder", "equivalent_identifiers": ["HP:0005340", "UMLS:C1836904"], "information_content": 100.0}
{"id": "MONDO:0020723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D-dependent rickets, type 1A", "equivalent_identifiers": ["MONDO:0020723", "DOID:0080886", "OMIM:264700"], "information_content": 100.0}
{"id": "HP:0012052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low serum calcitriol", "equivalent_identifiers": ["HP:0012052", "UMLS:C4023065"], "information_content": 100.0}
{"id": "HP:0012053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating calcifediol concentration", "equivalent_identifiers": ["HP:0012053", "UMLS:C4023064"], "information_content": 100.0}
{"id": "HP:0011422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood chloride concentration", "equivalent_identifiers": ["HP:0011422", "UMLS:C4023367"], "information_content": 92.8}
{"id": "MONDO:0012334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 29", "equivalent_identifiers": ["MONDO:0012334", "DOID:0110780", "OMIM:609727", "orphanet:101009", "UMLS:C1857855", "MESH:C536863", "SNOMEDCT:733029008", "medgen:346682"], "information_content": 100.0}
{"id": "MONDO:0859191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary, renal, neurologic, and skeletal syndrome", "equivalent_identifiers": ["MONDO:0859191", "OMIM:619534", "UMLS:C5561990", "medgen:1794200"], "information_content": 100.0}
{"id": "HP:0033614", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tracheal bronchus", "equivalent_identifiers": ["HP:0033614", "UMLS:C0225599", "SNOMEDCT:76914003"], "information_content": 90.9}
{"id": "HP:0011622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inlet ventricular septal defect", "equivalent_identifiers": ["HP:0011622", "UMLS:C5399852"], "information_content": 100.0}
{"id": "MONDO:0015450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triatrial heart", "equivalent_identifiers": ["MONDO:0015450", "orphanet:1463", "UMLS:C0009995", "UMLS:C4023708", "MESH:D003310", "MEDDRA:10010972", "NCIT:C84651", "SNOMEDCT:55510008", "medgen:3238", "ICD10:Q24.2", "HP:0010774"], "information_content": 92.8}
{"id": "MONDO:0060496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, neuropathy, and deafness", "equivalent_identifiers": ["MONDO:0060496", "OMIM:617519", "UMLS:C4479603", "medgen:1382171"], "information_content": 100.0}
{"id": "HP:0004891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent infections due to aspiration", "equivalent_identifiers": ["HP:0004891", "UMLS:C3806285"], "information_content": 100.0}
{"id": "HP:0034830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic fructose-1,6-phosphate aldolase activity", "equivalent_identifiers": ["HP:0034830", "UMLS:C5826691"], "information_content": 100.0}
{"id": "HP:0008273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient aminoaciduria", "equivalent_identifiers": ["HP:0008273", "UMLS:C4024713"], "information_content": 100.0}
{"id": "MONDO:0008246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigmented paravenous retinochoroidal atrophy", "equivalent_identifiers": ["MONDO:0008246", "DOID:0111541", "OMIM:172870", "orphanet:251295", "UMLS:C1868310", "MESH:C566801", "SNOMEDCT:723450004", "medgen:401413", "icd11.foundation:1278139412"], "information_content": 100.0}
{"id": "HP:0007903", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paravenous chorioretinal atrophy", "equivalent_identifiers": ["HP:0007903", "UMLS:C4072868"], "information_content": 100.0}
{"id": "MONDO:0012915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1q21.1 duplication syndrome", "equivalent_identifiers": ["MONDO:0012915", "DOID:0060435", "OMIM:612475", "orphanet:250994", "UMLS:C2675891", "MESH:C567290", "medgen:382715"], "information_content": 100.0}
{"id": "MONDO:0007857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis palmaris et plantaris-clinodactyly syndrome", "equivalent_identifiers": ["MONDO:0007857", "OMIM:148520", "orphanet:86919", "UMLS:C1835663", "MESH:C563646", "medgen:320656"], "information_content": 100.0}
{"id": "MONDO:0008001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "milia, multiple eruptive", "equivalent_identifiers": ["MONDO:0008001", "OMIM:157400", "UMLS:C0343079", "MESH:C562823", "SNOMEDCT:238749001", "medgen:83356"], "information_content": 100.0}
{"id": "MONDO:0011765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia type 5", "equivalent_identifiers": ["MONDO:0011765", "DOID:0070299", "OMIM:607078", "orphanet:93311", "UMLS:C1846843", "MESH:C535505", "SNOMEDCT:715674008", "medgen:335542", "icd11.foundation:537678813"], "information_content": 100.0}
{"id": "MONDO:0012511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preterm premature rupture of the membranes", "inheritance": "Polygenic inheritance", "equivalent_identifiers": ["MONDO:0012511", "DOID:0111144", "OMIM:610504", "UMLS:C0729264", "MESH:C563032", "MEDDRA:10073024", "NCIT:C92862", "SNOMEDCT:312974005", "medgen:147582", "HP:6000310"], "information_content": 100.0}
{"id": "MONDO:0032568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with macrocephaly, seizures, and speech delay", "equivalent_identifiers": ["MONDO:0032568", "OMIM:618158", "EFO:0010259", "UMLS:C4748428", "medgen:1648339"], "information_content": 100.0}
{"id": "HP:0010863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Receptive language delay", "equivalent_identifiers": ["HP:0010863", "UMLS:C0454642", "SNOMEDCT:229736005"], "information_content": 89.4}
{"id": "MONDO:0012188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 9", "equivalent_identifiers": ["MONDO:0012188", "DOID:0110733", "OMIM:609055", "UMLS:C1836841", "MESH:C537953", "medgen:332304"], "information_content": 100.0}
{"id": "MONDO:0012864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 2q32-q33 deletion syndrome", "equivalent_identifiers": ["MONDO:0012864", "DOID:0060428", "OMIM:612313", "orphanet:251019", "orphanet:576283", "UMLS:C2676739", "UMLS:C4304531", "MESH:C567350", "SNOMEDCT:719659003", "medgen:436765"], "information_content": 100.0}
{"id": "HP:0006390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Saber shin", "equivalent_identifiers": ["HP:0006390", "UMLS:C0240920", "UMLS:C1861937", "SNOMEDCT:47381006"], "information_content": 100.0}
{"id": "MONDO:0007919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Milroy Disease", "equivalent_identifiers": ["MONDO:0007919", "DOID:0070210", "DOID:0070212", "OMIM:153100", "orphanet:79452", "UMLS:C1704423", "MEDDRA:10051461", "SNOMEDCT:399889006", "medgen:309963", "ICD10:Q82.0"], "information_content": 100.0}
{"id": "HP:0032344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upslanting toenail", "equivalent_identifiers": ["HP:0032344", "UMLS:C1835255"], "information_content": 100.0}
{"id": "HP:0007448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperkeratosis over edematous areas", "equivalent_identifiers": ["HP:0007448", "UMLS:C1835253"], "information_content": 100.0}
{"id": "MONDO:0971006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class I deficiency 1", "equivalent_identifiers": ["MONDO:0971006", "OMIM:604571"], "information_content": 100.0}
{"id": "MONDO:0009539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoblastic leukemia, acute, with lymphomatous features", "equivalent_identifiers": ["MONDO:0009539", "OMIM:247640", "UMLS:C1855472", "MESH:C565429", "medgen:340879"], "information_content": 100.0}
{"id": "MONDO:0015001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 18", "equivalent_identifiers": ["MONDO:0015001", "OMIM:617280", "UMLS:C4310636", "medgen:934603"], "information_content": 100.0}
{"id": "MONDO:0007840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "internal carotid artery, spontaneous dissection of", "equivalent_identifiers": ["MONDO:0007840", "OMIM:147820", "UMLS:C1840073", "MESH:C564125", "medgen:333477"], "information_content": 100.0}
{"id": "HP:0004945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extracranial internal carotid artery dissection", "equivalent_identifiers": ["HP:0004945", "UMLS:C4025267"], "information_content": 100.0}
{"id": "MONDO:0008030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy 1", "equivalent_identifiers": ["MONDO:0008030", "DOID:0111192", "OMIM:158900", "UMLS:C1834673", "UMLS:C5399970", "MESH:C536391", "NCIT:C172704", "medgen:1727901"], "information_content": 100.0}
{"id": "HP:6001102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inability to puff cheeks", "equivalent_identifiers": ["HP:6001102", "UMLS:C5970420"], "information_content": 100.0}
{"id": "HP:0012231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exudative retinal detachment", "equivalent_identifiers": ["HP:0012231", "NCIT:C118756", "UMLS:C0154822", "MEDDRA:10040114", "MEDDRA:10089651", "SNOMEDCT:38599001"], "information_content": 100.0}
{"id": "MONDO:0010884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, scapulohumeral", "equivalent_identifiers": ["MONDO:0010884", "OMIM:600416", "UMLS:C0410192", "MESH:C562932", "SNOMEDCT:240074006", "medgen:98373", "HP:0008970"], "information_content": 100.0}
{"id": "HP:6001010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inability to protrude lips", "equivalent_identifiers": ["HP:6001010", "UMLS:C5970350"], "information_content": 100.0}
{"id": "HP:0030664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beevor's sign", "equivalent_identifiers": ["HP:0030664", "UMLS:C0231616", "SNOMEDCT:61282003"], "information_content": 100.0}
{"id": "HP:6000864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transverse smile", "equivalent_identifiers": ["HP:6000864", "UMLS:C5937577"], "information_content": 100.0}
{"id": "MONDO:0013505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 9", "equivalent_identifiers": ["MONDO:0013505", "DOID:0111156", "OMIM:613958", "UMLS:C3151407", "medgen:462757"], "information_content": 100.0}
{"id": "MONDO:0007282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 29", "equivalent_identifiers": ["MONDO:0007282", "DOID:0110232", "OMIM:115800", "UMLS:C3805409", "medgen:811739"], "information_content": 100.0}
{"id": "MONDO:0013418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 7", "equivalent_identifiers": ["MONDO:0013418", "OMIM:613780", "UMLS:C3151077", "medgen:462427"], "information_content": 100.0}
{"id": "HP:0031649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortic rupture", "equivalent_identifiers": ["HP:0031649", "EFO:1001268", "UMLS:C0003496", "MEDDRA:10060874", "MESH:D001019"], "information_content": 100.0}
{"id": "MONDO:0009633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma", "equivalent_identifiers": ["MONDO:0009633", "OMIM:251750", "UMLS:C3538951", "medgen:761238"], "information_content": 95.4}
{"id": "HP:0007765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep anterior chamber", "equivalent_identifiers": ["HP:0007765", "UMLS:C0423280", "MEDDRA:10079171", "SNOMEDCT:246991003"], "information_content": 100.0}
{"id": "MONDO:0013425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 20", "equivalent_identifiers": ["MONDO:0013425", "DOID:0110353", "OMIM:613794", "UMLS:C3151086", "MESH:C566718", "medgen:462436"], "information_content": 100.0}
{"id": "MONDO:0014793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-congenital cataract-psoriasiform dermatitis syndrome", "equivalent_identifiers": ["MONDO:0014793", "OMIM:616834", "orphanet:488168", "UMLS:C5567510", "SNOMEDCT:1172683008", "medgen:1798933"], "information_content": 100.0}
{"id": "HP:6001113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating methysterol concentration", "equivalent_identifiers": ["HP:6001113", "UMLS:C5970428"], "information_content": 100.0}
{"id": "HP:6000753", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating monomethyl sterol concentration", "equivalent_identifiers": ["HP:6000753", "UMLS:C5937481"], "information_content": 100.0}
{"id": "HP:6000754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating dimethyl sterol concentration", "equivalent_identifiers": ["HP:6000754", "UMLS:C5937482"], "information_content": 100.0}
{"id": "MONDO:0011070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van Maldergem syndrome 1", "equivalent_identifiers": ["MONDO:0011070", "DOID:0080585", "OMIM:601390", "UMLS:C4551950", "NCIT:C188993", "medgen:1644627"], "information_content": 100.0}
{"id": "MONDO:0010706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 1", "equivalent_identifiers": ["MONDO:0010706", "DOID:0080857", "OMIM:311360", "orphanet:642691", "UMLS:C3494522", "UMLS:C4552079", "SNOMEDCT:1332509007", "medgen:1644269"], "information_content": 95.4}
{"id": "MONDO:0015006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss", "equivalent_identifiers": ["MONDO:0015006", "OMIM:617294", "orphanet:508529", "UMLS:C4310631", "medgen:934598"], "information_content": 100.0}
{"id": "MONDO:0957396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 51", "equivalent_identifiers": ["MONDO:0957396", "OMIM:620438", "UMLS:C5830608", "medgen:1841244"], "information_content": 100.0}
{"id": "MONDO:0009034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial dyssynostosis", "equivalent_identifiers": ["MONDO:0009034", "OMIM:218350", "orphanet:1516", "UMLS:C1857511", "MESH:C536455", "medgen:347473"], "information_content": 100.0}
{"id": "HP:0011217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal shape of the occiput", "equivalent_identifiers": ["HP:0011217", "UMLS:C4023459"], "information_content": 90.9}
{"id": "HP:0000357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal location of ears", "equivalent_identifiers": ["HP:0000357", "UMLS:C4021810"], "information_content": 83.6}
{"id": "MONDO:0013985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 18B", "equivalent_identifiers": ["MONDO:0013985", "DOID:0110474", "OMIM:614945", "UMLS:C3554163", "medgen:767077"], "information_content": 100.0}
{"id": "MONDO:0014204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 5", "equivalent_identifiers": ["MONDO:0014204", "OMIM:615483", "UMLS:C3809645", "medgen:815975"], "information_content": 100.0}
{"id": "MONDO:0025691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 30", "equivalent_identifiers": ["MONDO:0025691", "DOID:0060937", "OMIM:619291", "UMLS:C5543312", "medgen:1785079"], "information_content": 100.0}
{"id": "HP:0031959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leg dystonia", "equivalent_identifiers": ["HP:0031959", "UMLS:C4732775"], "information_content": 100.0}
{"id": "MONDO:0010280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ptosis, hereditary congenital 2", "equivalent_identifiers": ["MONDO:0010280", "OMIM:300245", "UMLS:C1846128", "MESH:C564553", "medgen:337515"], "information_content": 100.0}
{"id": "MONDO:0009596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal chondrodysplasia, Pena type", "equivalent_identifiers": ["MONDO:0009596", "OMIM:250300", "UMLS:C1855195", "MESH:C565399", "medgen:343289"], "information_content": 100.0}
{"id": "MONDO:0009061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic fibrosis", "equivalent_identifiers": ["MONDO:0009061", "DOID:1485", "OMIM:219700", "orphanet:586", "UMLS:C0010674", "MESH:D003550", "MEDDRA:10011762", "MEDDRA:10011764", "MEDDRA:10028141", "NCIT:C2975", "SNOMEDCT:190905008", "medgen:41393", "icd11.foundation:514403112", "ICD10:E84", "ICD9:277.0"], "information_content": 83.6}
{"id": "HP:0032359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased forced expiratory flow 25-75%", "equivalent_identifiers": ["HP:0032359", "UMLS:C5139292"], "information_content": 92.8}
{"id": "HP:6000725", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Salty tasting skin", "equivalent_identifiers": ["HP:6000725", "UMLS:C5937457"], "information_content": 100.0}
{"id": "MONDO:0957271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory disease, systemic, with vasculitis", "equivalent_identifiers": ["MONDO:0957271", "OMIM:620376", "UMLS:C5830525", "medgen:1841161"], "information_content": 100.0}
{"id": "MONDO:0005900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parotitis", "equivalent_identifiers": ["MONDO:0005900", "DOID:10301", "EFO:0007423", "UMLS:C0030583", "MESH:D010309", "MEDDRA:10034037", "MEDDRA:10034038", "NCIT:C114281", "SNOMEDCT:14756005", "medgen:45335", "ICD10:K11.2", "HP:0011850"], "information_content": 95.4}
{"id": "HP:4000037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital hydrocele", "equivalent_identifiers": ["HP:4000037", "UMLS:C0159015", "MEDDRA:10010505", "SNOMEDCT:82062003"], "information_content": 100.0}
{"id": "HP:0033040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Sm antibody positivity", "equivalent_identifiers": ["HP:0033040", "UMLS:C5421567"], "information_content": 100.0}
{"id": "MONDO:0010354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Allan-Herndon-Dudley syndrome", "equivalent_identifiers": ["MONDO:0010354", "DOID:0050631", "OMIM:300523", "orphanet:59", "UMLS:C0795889", "MESH:C537047", "MEDDRA:10078821", "NCIT:C118843", "SNOMEDCT:702327009", "medgen:208645", "icd11.foundation:56813604"], "information_content": 100.0}
{"id": "HP:0000549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal conjugate eye movement", "equivalent_identifiers": ["HP:0000549", "UMLS:C1845274"], "information_content": 66.9}
{"id": "MONDO:0976131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia", "equivalent_identifiers": ["MONDO:0976131", "OMIM:621068", "UMLS:C5975596"], "information_content": 100.0}
{"id": "HP:0012416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypercapnia", "equivalent_identifiers": ["HP:0012416", "NCIT:C122721", "UMLS:C0020440", "MEDDRA:10005404", "MEDDRA:10007222", "MEDDRA:10020591", "MEDDRA:10020592", "MEDDRA:10020593", "MEDDRA:10038778", "SNOMEDCT:29596007", "MESH:D006935"], "information_content": 95.4}
{"id": "MONDO:0009694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloperoxidase deficiency", "equivalent_identifiers": ["MONDO:0009694", "OMIM:254600", "orphanet:2587", "UMLS:C0398595", "MESH:C562864", "MEDDRA:10074767", "SNOMEDCT:129644003", "SNOMEDCT:234433009", "medgen:96015", "icd11.foundation:1933575033"], "information_content": 100.0}
{"id": "HP:6000375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced neutrophil myeloperoxidase activity", "equivalent_identifiers": ["HP:6000375", "UMLS:C5937167"], "information_content": 100.0}
{"id": "HP:6000513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished neutrophil myeloperoxidase activity", "equivalent_identifiers": ["HP:6000513", "UMLS:C5937276"], "information_content": 100.0}
{"id": "MONDO:0032939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 63, with macrocephaly", "equivalent_identifiers": ["MONDO:0032939", "DOID:0061036", "OMIM:618825", "UMLS:C5394205", "medgen:1716581"], "information_content": 100.0}
{"id": "MONDO:0013509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 6", "equivalent_identifiers": ["MONDO:0013509", "DOID:0070036", "OMIM:613970", "UMLS:C3151411", "medgen:462761"], "information_content": 100.0}
{"id": "MONDO:0007267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 3", "equivalent_identifiers": ["MONDO:0007267", "DOID:0110309", "OMIM:115196", "UMLS:C1861863", "MESH:C566170", "NCIT:C182076", "medgen:349382"], "information_content": 100.0}
{"id": "MONDO:0013999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome", "equivalent_identifiers": ["MONDO:0013999", "OMIM:614979", "orphanet:313800", "UMLS:C4749914", "SNOMEDCT:771471002", "medgen:1662266"], "information_content": 100.0}
{"id": "MONDO:0032938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 8, autosomal recessive", "equivalent_identifiers": ["MONDO:0032938", "OMIM:618824", "UMLS:C5394199", "medgen:1713414"], "information_content": 100.0}
{"id": "MONDO:0014780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia with intellectual disability syndrome 6", "equivalent_identifiers": ["MONDO:0014780", "DOID:0070437", "OMIM:616809", "UMLS:C4225201", "medgen:906509"], "information_content": 100.0}
{"id": "HP:0010943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Echogenic Bowel", "equivalent_identifiers": ["HP:0010943", "UMLS:C2936423", "MESH:D058535"], "information_content": 95.4}
{"id": "HP:0010844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with multifocal slow activity", "equivalent_identifiers": ["HP:0010844", "UMLS:C4023687"], "information_content": 100.0}
{"id": "MONDO:0012025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiootic syndrome 3", "equivalent_identifiers": ["MONDO:0012025", "OMIM:608389", "UMLS:C1842124", "MESH:C564248", "medgen:333995"], "information_content": 100.0}
{"id": "MONDO:0008995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yunis-Varon syndrome", "equivalent_identifiers": ["MONDO:0008995", "DOID:0060589", "OMIM:216340", "orphanet:3472", "UMLS:C1857663", "MESH:C536719", "MEDDRA:10082255", "medgen:341818", "icd11.foundation:1696991249"], "information_content": 100.0}
{"id": "HP:0000188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short upper lip", "equivalent_identifiers": ["HP:0000188", "UMLS:C1848977"], "information_content": 100.0}
{"id": "HP:0006323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature loss of primary teeth", "equivalent_identifiers": ["HP:0006323", "UMLS:C0266052", "SNOMEDCT:122483006", "SNOMEDCT:39034005"], "information_content": 100.0}
{"id": "HP:0009835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the distal phalanges of the hand", "equivalent_identifiers": ["HP:0009835", "UMLS:C1861336"], "information_content": 80.6}
{"id": "HP:0005461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Craniofacial disproportion", "equivalent_identifiers": ["HP:0005461", "UMLS:C1867114"], "information_content": 100.0}
{"id": "HP:0025430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High-pitched cry", "equivalent_identifiers": ["HP:0025430", "NCIT:C87169", "UMLS:C0239154", "MEDDRA:10052286", "SNOMEDCT:438405000"], "information_content": 100.0}
{"id": "HP:0008785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ossification of pubic rami", "equivalent_identifiers": ["HP:0008785", "UMLS:C1865363"], "information_content": 100.0}
{"id": "MONDO:0007268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 4", "equivalent_identifiers": ["MONDO:0007268", "DOID:0110310", "OMIM:115197", "UMLS:C1861862", "MESH:C566169", "NCIT:C133725", "medgen:350526"], "information_content": 100.0}
{"id": "MONDO:0009585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria", "equivalent_identifiers": ["MONDO:0009585", "OMIM:249650", "orphanet:1035", "UMLS:C0796055", "MESH:C563085", "SNOMEDCT:784373007", "medgen:208661"], "information_content": 100.0}
{"id": "MONDO:0957303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, epidermolytic, 2", "equivalent_identifiers": ["MONDO:0957303", "DOID:0070551", "OMIM:620411", "UMLS:C2936837", "medgen:445412"], "information_content": 100.0}
{"id": "MONDO:0008774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-aminoadipic 2-oxoadipic aciduria", "equivalent_identifiers": ["MONDO:0008774", "DOID:0111453", "OMIM:204750", "orphanet:79154", "UMLS:C1855626", "UMLS:C1859817", "MESH:C565453", "SNOMEDCT:782918002", "medgen:395350"], "information_content": 100.0}
{"id": "HP:0034465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-hydroxyadipic aciduria", "equivalent_identifiers": ["HP:0034465", "UMLS:C5826412"], "information_content": 100.0}
{"id": "MONDO:0010279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "terminal osseous dysplasia-pigmentary defects syndrome", "equivalent_identifiers": ["MONDO:0010279", "DOID:0112149", "OMIM:300244", "orphanet:88630", "UMLS:C1846129", "MESH:C564554", "medgen:335344"], "information_content": 100.0}
{"id": "HP:0003330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal bone structure", "equivalent_identifiers": ["HP:0003330", "UMLS:C4025630"], "information_content": 50.0}
{"id": "HP:0011355", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Localized skin lesion", "equivalent_identifiers": ["HP:0011355", "NCIT:C39688", "UMLS:C0850826"], "information_content": 65.4}
{"id": "HP:0010675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal foot bone ossification", "equivalent_identifiers": ["HP:0010675", "UMLS:C4020768", "UMLS:C4021241", "UMLS:C4280367"], "information_content": 84.2}
{"id": "HP:0010660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hand bone ossification", "equivalent_identifiers": ["HP:0010660", "UMLS:C4021244", "UMLS:C4282399"], "information_content": 74.1}
{"id": "HP:0004987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesomelic leg shortening", "equivalent_identifiers": ["HP:0004987", "UMLS:C1969178"], "information_content": 100.0}
{"id": "MONDO:0010958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac arrhythmia, ankyrin-B-related", "equivalent_identifiers": ["MONDO:0010958", "DOID:0111700", "DOID:0111701", "OMIM:600919", "UMLS:C1970119", "MESH:C566996", "SNOMEDCT:764457005", "medgen:370181"], "information_content": 100.0}
{"id": "MONDO:0018582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mahvash Disease", "equivalent_identifiers": ["MONDO:0018582", "DOID:0112306", "OMIM:619290", "orphanet:438274", "UMLS:C4763635", "NCIT:C157461", "SNOMEDCT:1228875006", "medgen:1677024"], "information_content": 92.8}
{"id": "HP:0030688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased glucagon level", "equivalent_identifiers": ["HP:0030688", "UMLS:C1295677", "SNOMEDCT:131106002"], "information_content": 95.4}
{"id": "HP:4000061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic alpha-cell hyperplasia", "equivalent_identifiers": ["HP:4000061", "UMLS:C5558401"], "information_content": 100.0}
{"id": "MONDO:0030004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, 20", "equivalent_identifiers": ["MONDO:0030004", "OMIM:618830", "UMLS:C5394226", "medgen:1717195"], "information_content": 100.0}
{"id": "MONDO:0009646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosomy 7 myelodysplasia and leukemia syndrome 1", "equivalent_identifiers": ["MONDO:0009646", "OMIM:252270", "UMLS:C1854978", "MESH:C565370", "NCIT:C176908", "medgen:381529"], "information_content": 100.0}
{"id": "MONDO:0008304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature chromatid separation trait", "equivalent_identifiers": ["MONDO:0008304", "OMIM:176430", "EFO:0009077", "UMLS:C1864389", "medgen:400517"], "information_content": 100.0}
{"id": "HP:0200024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature chromatid separation", "equivalent_identifiers": ["HP:0200024", "UMLS:C4021899"], "information_content": 95.4}
{"id": "MONDO:0012635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG8-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012635", "DOID:0070260", "OMIM:611182", "orphanet:95428", "UMLS:C1970021", "MESH:C566987", "SNOMEDCT:717774004", "medgen:409971"], "information_content": 100.0}
{"id": "HP:0025045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal brain lactate level by MRS", "equivalent_identifiers": ["HP:0025045", "UMLS:C4476564"], "information_content": 92.8}
{"id": "HP:0008115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of the 3rd toe", "equivalent_identifiers": ["HP:0008115", "UMLS:C4021555", "UMLS:C4280416"], "information_content": 100.0}
{"id": "MONDO:0014794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 6", "equivalent_identifiers": ["MONDO:0014794", "DOID:0080517", "OMIM:616835", "UMLS:C4225188", "medgen:905079"], "information_content": 100.0}
{"id": "MONDO:0012364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1Q", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0012364", "DOID:0110442", "OMIM:609915", "UMLS:C1835926", "MESH:C563688", "medgen:332088"], "information_content": 100.0}
{"id": "MONDO:0013426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysm-osteoarthritis syndrome", "equivalent_identifiers": ["MONDO:0013426", "DOID:0070237", "OMIM:613795", "orphanet:284984", "UMLS:C3151087", "UMLS:C4760764", "NCIT:C186786", "SNOMEDCT:785808002", "medgen:462437"], "information_content": 100.0}
{"id": "HP:0100645", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystocele", "equivalent_identifiers": ["HP:0100645", "UMLS:C0262393", "UMLS:C1394494", "UMLS:C1444215", "MEDDRA:10048475", "SNOMEDCT:252005008", "SNOMEDCT:410070006"], "information_content": 100.0}
{"id": "MONDO:0007933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitelliform macular dystrophy 1", "equivalent_identifiers": ["MONDO:0007933", "OMIM:153840", "UMLS:C1835178", "UMLS:C4551953", "MESH:C537832", "medgen:1636950"], "information_content": 100.0}
{"id": "MONDO:0009549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe early-childhood-onset retinal dystrophy", "equivalent_identifiers": ["MONDO:0009549", "OMIM:248200", "orphanet:364055", "UMLS:C1855465", "UMLS:C1858080", "UMLS:C4282180", "MESH:C565741", "SNOMEDCT:716663009", "medgen:383691"], "information_content": 100.0}
{"id": "HP:0008035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinitis pigmentosa inversa", "equivalent_identifiers": ["HP:0008035", "UMLS:C4021559"], "information_content": 95.4}
{"id": "MONDO:0009760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Norman-Roberts syndrome", "equivalent_identifiers": ["MONDO:0009760", "DOID:0060902", "OMIM:257320", "orphanet:89844", "UMLS:C0796089", "MESH:C537848", "SNOMEDCT:717977003", "medgen:163213"], "information_content": 100.0}
{"id": "MONDO:0015146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic lissencephaly", "equivalent_identifiers": ["MONDO:0015146", "orphanet:102009", "UMLS:C0431375", "NCIT:C84640", "SNOMEDCT:253147000", "medgen:98463", "icd11.foundation:570001324", "HP:0006818"], "information_content": 89.4}
{"id": "MONDO:0014203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 25", "equivalent_identifiers": ["MONDO:0014203", "DOID:0110615", "OMIM:615482", "UMLS:C3809641", "medgen:815971"], "information_content": 100.0}
{"id": "MONDO:0013984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 84B", "equivalent_identifiers": ["MONDO:0013984", "DOID:0110530", "OMIM:614944", "UMLS:C3554159", "medgen:767073"], "information_content": 100.0}
{"id": "MONDO:0957397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 72", "equivalent_identifiers": ["MONDO:0957397", "DOID:0061045", "OMIM:620439", "orphanet:652487", "UMLS:C5830612", "medgen:1841248"], "information_content": 100.0}
{"id": "MONDO:0015002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 49", "equivalent_identifiers": ["MONDO:0015002", "DOID:0080441", "OMIM:617281", "UMLS:C4310635", "medgen:934602"], "information_content": 100.0}
{"id": "OMIM:132500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epistaxis, Hereditary", "equivalent_identifiers": ["OMIM:132500", "UMLS:C0339819", "MESH:C562751"]}
{"id": "MONDO:0011346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthinuria type II", "equivalent_identifiers": ["MONDO:0011346", "DOID:0070453", "OMIM:603592", "orphanet:93602", "UMLS:C1863688", "MESH:C566358", "medgen:350953"], "information_content": 100.0}
{"id": "HP:0034333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating hypoxanthine concentration", "equivalent_identifiers": ["HP:0034333", "UMLS:C5706176"], "information_content": 100.0}
{"id": "HP:0010933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperxanthinemia", "equivalent_identifiers": ["HP:0010933", "UMLS:C4023642", "UMLS:C5139051"], "information_content": 100.0}
{"id": "MONDO:0008031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy 2", "equivalent_identifiers": ["MONDO:0008031", "DOID:0111193", "OMIM:158901", "UMLS:C1834671", "UMLS:C3837602", "MESH:C563557", "NCIT:C172705", "medgen:320405"], "information_content": 100.0}
{"id": "MONDO:0030434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 18", "equivalent_identifiers": ["MONDO:0030434", "OMIM:619521", "UMLS:C5561983", "medgen:1794193"], "information_content": 100.0}
{"id": "MONDO:0012914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1q21.1 deletion syndrome", "equivalent_identifiers": ["MONDO:0012914", "DOID:0060411", "OMIM:612474", "orphanet:250989", "UMLS:C2675897", "MESH:C567291", "SNOMEDCT:699305004", "medgen:393913"], "information_content": 100.0}
{"id": "HP:0040053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long lower eyelashes", "equivalent_identifiers": ["HP:0040053", "UMLS:C4022465"], "information_content": 100.0}
{"id": "HP:0009942", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of thumb phalanx", "equivalent_identifiers": ["HP:0009942", "UMLS:C4021370"], "information_content": 85.5}
{"id": "HP:0010112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesoaxial foot polydactyly", "equivalent_identifiers": ["HP:0010112", "UMLS:C4021333"], "information_content": 90.9}
{"id": "MONDO:0007068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenylosuccinate lyase deficiency", "equivalent_identifiers": ["MONDO:0007068", "DOID:0050762", "OMIM:103050", "orphanet:46", "UMLS:C0268126", "MESH:C538235", "MEDDRA:10081681", "SNOMEDCT:15285008", "medgen:78641", "icd11.foundation:1725611919"], "information_content": 100.0}
{"id": "HP:6000390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary succinylaminoimidazole carboxamide riboside level", "equivalent_identifiers": ["HP:6000390", "UMLS:C5937176"], "information_content": 100.0}
{"id": "MONDO:0010758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wieacker-Wolff syndrome", "equivalent_identifiers": ["MONDO:0010758", "DOID:0060815", "OMIM:314580", "orphanet:3454", "orphanet:85283", "UMLS:C0796200", "UMLS:C1839735", "UMLS:C4305025", "MESH:C536703", "SNOMEDCT:719012009", "SNOMEDCT:722456001", "medgen:163227"], "information_content": 100.0}
{"id": "HP:0005745", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital foot contractures", "equivalent_identifiers": ["HP:0005745", "UMLS:C4025144"], "information_content": 100.0}
{"id": "MONDO:0012187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group J", "equivalent_identifiers": ["MONDO:0012187", "DOID:0111097", "OMIM:609054", "UMLS:C1836860", "MESH:C563801", "NCIT:C129027", "medgen:323015"], "information_content": 92.8}
{"id": "MONDO:0008228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pernicious anemia", "equivalent_identifiers": ["MONDO:0008228", "DOID:13381", "OMIM:170900", "EFO:0005576", "UMLS:C0002892", "MESH:D000752", "MEDDRA:10001129", "MEDDRA:10001131", "MEDDRA:10001132", "MEDDRA:10001134", "MEDDRA:10002075", "MEDDRA:10002308", "MEDDRA:10034695", "MEDDRA:10034696", "MEDDRA:10034697", "MEDDRA:10055192", "MEDDRA:10055711", "MEDDRA:10055712", "MEDDRA:10055713", "MEDDRA:10062829", "NCIT:C2871", "SNOMEDCT:84027009", "medgen:1531", "ICD10:D51.0", "ICD9:281.0"], "information_content": 100.0}
{"id": "HP:0200118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malabsorption of Vitamin B12", "equivalent_identifiers": ["HP:0200118", "UMLS:C0750292", "UMLS:C1850013"], "information_content": 100.0}
{"id": "MONDO:0007144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic arch interruption, facial palsy, and retinal coloboma", "equivalent_identifiers": ["MONDO:0007144", "OMIM:107550", "UMLS:C1862681", "MESH:C566271", "medgen:350733"], "information_content": 100.0}
{"id": "MONDO:0011664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency due to CD25 deficiency", "equivalent_identifiers": ["MONDO:0011664", "DOID:0111968", "OMIM:606367", "orphanet:169100", "UMLS:C1853392", "MESH:C565232", "medgen:377894", "icd11.foundation:1705860123"], "information_content": 100.0}
{"id": "HP:0033582", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary interstitial lymphocyte infiltration", "equivalent_identifiers": ["HP:0033582", "UMLS:C5539701"], "information_content": 90.9}
{"id": "MONDO:0012512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3", "equivalent_identifiers": ["MONDO:0012512", "DOID:0111486", "OMIM:610505", "orphanet:168566", "UMLS:C1864840", "UMLS:C4303760", "MESH:C566467", "SNOMEDCT:720951008", "medgen:355842"], "information_content": 100.0}
{"id": "MONDO:0012180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 9", "equivalent_identifiers": ["MONDO:0012180", "DOID:0110077", "OMIM:609040", "UMLS:C1836906", "MESH:C563808", "NCIT:C173471", "medgen:373205"], "information_content": 100.0}
{"id": "HP:0034304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epsilon wave", "equivalent_identifiers": ["HP:0034304", "UMLS:C5706157"], "information_content": 100.0}
{"id": "HP:0034364", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibrofatty replacement of right ventricular myocardium", "equivalent_identifiers": ["HP:0034364", "UMLS:C1968863"], "information_content": 100.0}
{"id": "MONDO:0007608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "desmoid tumor", "equivalent_identifiers": ["MONDO:0007608", "DOID:0080366", "OMIM:135290", "orphanet:873", "EFO:0009907", "UMLS:C1851124", "UMLS:CN072436", "MESH:C535944", "MESH:D018222", "NCIT:C9182", "medgen:38187"], "information_content": 82.6}
{"id": "MONDO:0009257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactose epimerase deficiency", "equivalent_identifiers": ["MONDO:0009257", "DOID:0111458", "OMIM:230350", "orphanet:79238", "UMLS:C0751161", "SNOMEDCT:8849004", "medgen:199598"], "information_content": 92.8}
{"id": "HP:0012023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galactosuria", "equivalent_identifiers": ["HP:0012023", "UMLS:C0268157", "SNOMEDCT:71690006"], "information_content": 100.0}
{"id": "MONDO:0014708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 14", "equivalent_identifiers": ["MONDO:0014708", "DOID:0070621", "OMIM:616606", "orphanet:1440", "UMLS:C2930916", "MESH:C535487", "NCIT:C185638", "SNOMEDCT:702345009", "medgen:419284"], "information_content": 100.0}
{"id": "MONDO:0010209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthinuria type I", "equivalent_identifiers": ["MONDO:0010209", "DOID:0070452", "OMIM:278300", "orphanet:93601", "UMLS:C0268118", "UMLS:C4025600", "MESH:C562584", "SNOMEDCT:124147007", "SNOMEDCT:72682008", "SNOMEDCT:836343001", "medgen:82771", "HP:0003534"], "information_content": 100.0}
{"id": "HP:6000218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating xanthine oxidase activity", "equivalent_identifiers": ["HP:6000218", "UMLS:C5937048"], "information_content": 100.0}
{"id": "MONDO:0014130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dowling-Degos disease 2", "equivalent_identifiers": ["MONDO:0014130", "OMIM:615327", "UMLS:C3809147", "medgen:815477"], "information_content": 100.0}
{"id": "MONDO:0013541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 1", "equivalent_identifiers": ["MONDO:0013541", "DOID:0090137", "OMIM:614039", "orphanet:300570", "UMLS:C3808397", "medgen:814727"], "information_content": 100.0}
{"id": "HP:0034180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusion of the caudate and putamen", "equivalent_identifiers": ["HP:0034180", "UMLS:C5676774"], "information_content": 100.0}
{"id": "MONDO:0013405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 49", "equivalent_identifiers": ["MONDO:0013405", "DOID:0110377", "OMIM:613756", "UMLS:C3151059", "medgen:462409"], "information_content": 100.0}
{"id": "MONDO:0032829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0032829", "OMIM:618603", "EFO:0010568", "UMLS:C5231423", "medgen:1684818"], "information_content": 100.0}
{"id": "HP:0002453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal globus pallidus morphology", "equivalent_identifiers": ["HP:0002453", "UMLS:C4025706"], "information_content": 88.2}
{"id": "HP:0031139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frog-leg posture", "equivalent_identifiers": ["HP:0031139", "UMLS:C4476998"], "information_content": 100.0}
{"id": "MONDO:0007556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 2F, with mottled pigmentation", "equivalent_identifiers": ["MONDO:0007556", "DOID:0111346", "OMIM:131960", "orphanet:79397", "UMLS:C0432316", "MESH:C535959", "SNOMEDCT:254180002", "medgen:140934"], "information_content": 100.0}
{"id": "HP:0007494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Discrete 2 to 5-mm hyper- and hypopigmented macules", "equivalent_identifiers": ["HP:0007494", "UMLS:C1851552"], "information_content": 100.0}
{"id": "HP:0007438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mottled pigmentation of the trunk and proximal extremities", "equivalent_identifiers": ["HP:0007438", "UMLS:C1851551"], "information_content": 100.0}
{"id": "MONDO:0021001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 1", "equivalent_identifiers": ["MONDO:0021001", "DOID:0111029", "OMIM:235200", "EFO:0006513", "UMLS:C2827503", "UMLS:C3469186", "NCIT:C84764", "SNOMEDCT:1186847009", "medgen:854011", "ICD10:E83.1"], "information_content": 100.0}
{"id": "MONDO:0032573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone marrow failure syndrome 5", "equivalent_identifiers": ["MONDO:0032573", "OMIM:618165", "UMLS:C4748488", "medgen:1648380"], "information_content": 100.0}
{"id": "MONDO:0012517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease due to saposin C deficiency", "equivalent_identifiers": ["MONDO:0012517", "DOID:0110961", "OMIM:610539", "orphanet:309252", "UMLS:C1864651", "MESH:C566435", "SNOMEDCT:1156792000", "medgen:350479"], "information_content": 100.0}
{"id": "HP:0011813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased cerebral lipofuscin", "equivalent_identifiers": ["HP:0011813", "UMLS:C4023177"], "information_content": 92.8}
{"id": "MONDO:0014191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia 5", "equivalent_identifiers": ["MONDO:0014191", "DOID:0060679", "OMIM:615441", "UMLS:C3809536", "medgen:815866"], "information_content": 100.0}
{"id": "HP:0031273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shock", "equivalent_identifiers": ["HP:0031273", "NCIT:C35016", "UMLS:C0036974", "MEDDRA:10000692", "MEDDRA:10007647", "MEDDRA:10009192", "MEDDRA:10009195", "MEDDRA:10009908", "MEDDRA:10009909", "MEDDRA:10009910", "MEDDRA:10009914", "MEDDRA:10009915", "MEDDRA:10009917", "MEDDRA:10016144", "MEDDRA:10016161", "MEDDRA:10034567", "MEDDRA:10040560", "MEDDRA:10040564", "MEDDRA:10040583", "MEDDRA:10040585", "MEDDRA:10047052", "SNOMEDCT:27942005", "MESH:D012769"], "information_content": 79.6}
{"id": "OMIM:613024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1", "equivalent_identifiers": ["OMIM:613024", "UMLS:C2751665"]}
{"id": "MONDO:0018906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "follicular lymphoma", "equivalent_identifiers": ["MONDO:0018906", "DOID:0050873", "orphanet:545", "UMLS:C0024301", "MESH:D008224", "MEDDRA:10029473", "MEDDRA:10029478", "MEDDRA:10085128", "MEDDRA:10085262", "NCIT:C3209", "SNOMEDCT:303055001", "SNOMEDCT:307637005", "SNOMEDCT:308121000", "SNOMEDCT:55150002", "medgen:7417", "icd11.foundation:797822185", "HP:0033125"], "information_content": 71.2}
{"id": "HP:0010177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolytic defects of the phalanges of the toes", "equivalent_identifiers": ["HP:0010177", "UMLS:C4023985"], "information_content": 78.5}
{"id": "MONDO:0008291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis plantaris palmaris et disseminata", "equivalent_identifiers": ["MONDO:0008291", "OMIM:175850", "orphanet:737", "UMLS:C0162838", "SNOMEDCT:718218005", "medgen:56517"], "information_content": 100.0}
{"id": "HP:0100870", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plantar telangiectasia", "equivalent_identifiers": ["HP:0100870", "UMLS:C4020947"], "information_content": 100.0}
{"id": "MONDO:0008525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syringomyelia, isolated", "equivalent_identifiers": ["MONDO:0008525", "OMIM:186700", "UMLS:C1861301", "UMLS:C4538540", "MESH:C566084", "medgen:1622554"], "information_content": 100.0}
{"id": "HP:0030833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck pain", "equivalent_identifiers": ["HP:0030833", "NCIT:C50663", "UMLS:C0007859", "MEDDRA:10008296", "MEDDRA:10008322", "MEDDRA:10028836", "MEDDRA:10033467", "MEDDRA:10049860", "MEDDRA:10087882", "SNOMEDCT:81680005", "MESH:D019547"], "information_content": 100.0}
{"id": "HP:0005878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged sagittal diameter of the cervical canal", "equivalent_identifiers": ["HP:0005878", "UMLS:C4025118"], "information_content": 100.0}
{"id": "HP:0002699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal foramen magnum morphology", "equivalent_identifiers": ["HP:0002699", "UMLS:C4025687"], "information_content": 89.4}
{"id": "MONDO:0033946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary angioedema with C1Inh deficiency", "equivalent_identifiers": ["MONDO:0033946", "DOID:0080939", "OMIM:106100", "orphanet:528623", "UMLS:C1862892", "UMLS:C4552294", "MEDDRA:10080955", "MEDDRA:10080960", "SNOMEDCT:1230015008", "medgen:1812520"], "information_content": 92.8}
{"id": "HP:0005225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intestinal edema", "equivalent_identifiers": ["HP:0005225", "UMLS:C1142262", "MEDDRA:10058065", "MEDDRA:10058070"], "information_content": 92.8}
{"id": "HP:0011855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pharyngeal edema", "equivalent_identifiers": ["HP:0011855", "UMLS:C0236024", "MEDDRA:10014252", "MEDDRA:10030125", "MEDDRA:10034829", "MEDDRA:10034853", "MEDDRA:10043519", "MEDDRA:10043522", "MEDDRA:10054544", "MEDDRA:10055951", "SNOMEDCT:2129002"], "information_content": 100.0}
{"id": "HP:0034204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating C1-esterase inhibitor concentration", "equivalent_identifiers": ["HP:0034204", "UMLS:C5676792"], "information_content": 100.0}
{"id": "HP:0012027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngeal edema", "equivalent_identifiers": ["HP:0012027", "NCIT:C79607", "UMLS:C0023052", "MEDDRA:10014229", "MEDDRA:10014238", "MEDDRA:10023838", "MEDDRA:10023845", "MEDDRA:10023912", "MEDDRA:10023921", "MEDDRA:10030116", "MEDDRA:10055927", "SNOMEDCT:51599000", "MESH:D007819"], "information_content": 100.0}
{"id": "MONDO:0012031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 10", "equivalent_identifiers": ["MONDO:0012031", "DOID:0111046", "OMIM:608404", "UMLS:C1842090", "MESH:C564245", "medgen:374856"], "information_content": 100.0}
{"id": "MONDO:0033012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis et progressiva 2", "equivalent_identifiers": ["MONDO:0033012", "DOID:0080248", "OMIM:617524", "UMLS:C4479618", "medgen:1379712"], "information_content": 100.0}
{"id": "MONDO:0010155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dorfman-Chanarin disease", "equivalent_identifiers": ["MONDO:0010155", "OMIM:275630", "orphanet:98907", "UMLS:C0268238", "MESH:C536560", "SNOMEDCT:19604005", "medgen:82780", "icd11.foundation:690728790"], "information_content": 100.0}
{"id": "MONDO:0976228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 132b", "equivalent_identifiers": ["MONDO:0976228", "DOID:0061097", "OMIM:621096"], "information_content": 100.0}
{"id": "HP:0032235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-La/SS-B antibody positivity", "equivalent_identifiers": ["HP:0032235", "UMLS:C5539421"], "information_content": 100.0}
{"id": "MONDO:0000709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crohn ileitis", "equivalent_identifiers": ["MONDO:0000709", "DOID:0060189", "UMLS:C0020877", "UMLS:C0267380", "MESH:D007079", "MEDDRA:10011406", "MEDDRA:10021312", "MEDDRA:10021314", "NCIT:C35329", "NCIT:C84782", "SNOMEDCT:38106008", "SNOMEDCT:52457000", "medgen:82754", "HP:0032564"], "information_content": 92.8}
{"id": "HP:0033583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Follicular bronchiolitis", "equivalent_identifiers": ["HP:0033583", "UMLS:C1272766", "MEDDRA:10068805", "SNOMEDCT:385479009"], "information_content": 100.0}
{"id": "HP:0034839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lymphoid hyperplasia", "equivalent_identifiers": ["HP:0034839", "NCIT:C102532", "NCIT:C97078", "UMLS:C0333997", "UMLS:C0333998", "UMLS:C5886872", "SNOMEDCT:128863005", "SNOMEDCT:43961000"], "information_content": 88.2}
{"id": "HP:0410294", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased specific antibody response to protein vaccine", "equivalent_identifiers": ["HP:0410294", "UMLS:C5139457"], "information_content": 89.4}
{"id": "HP:0033555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Ro/SS-A antibody positivity", "equivalent_identifiers": ["HP:0033555", "UMLS:C5539680"], "information_content": 100.0}
{"id": "HP:0033559", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-myeloperoxidase antibody positivity", "equivalent_identifiers": ["HP:0033559", "UMLS:C5539684"], "information_content": 100.0}
{"id": "HP:0033563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-tissue transglutaminase antibody positivity", "equivalent_identifiers": ["HP:0033563", "UMLS:C5539688"], "information_content": 90.9}
{"id": "HP:0020136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anticardiolipin IgG antibody positivity", "equivalent_identifiers": ["HP:0020136", "UMLS:C5209232"], "information_content": 100.0}
{"id": "MONDO:0011042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Martinez-Frias syndrome", "equivalent_identifiers": ["MONDO:0011042", "OMIM:601346", "UMLS:C1832443", "MESH:C563346", "medgen:318628"], "information_content": 100.0}
{"id": "HP:0005245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intestinal hypoplasia", "equivalent_identifiers": ["HP:0005245", "UMLS:C4021640"], "information_content": 86.3}
{"id": "HP:0005233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the gallbladder", "equivalent_identifiers": ["HP:0005233", "UMLS:C0345282", "SNOMEDCT:93259002"], "information_content": 100.0}
{"id": "MONDO:0100285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extrahepatic biliary atresia", "equivalent_identifiers": ["MONDO:0100285", "OMIM:210500", "UMLS:C4520983", "NCIT:C97069", "SNOMEDCT:82821008", "medgen:1621383", "icd11.foundation:1813934523", "HP:0005242"], "information_content": 100.0}
{"id": "MONDO:0008424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sella turcica, bridged", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008424", "OMIM:182200", "UMLS:C1866959", "MESH:C566689", "medgen:356654", "HP:0005449"], "information_content": 100.0}
{"id": "MONDO:0033668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 79", "equivalent_identifiers": ["MONDO:0033668", "DOID:0112160", "OMIM:619086", "UMLS:C5436772", "medgen:1735338"], "information_content": 100.0}
{"id": "MONDO:0011149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature aging syndrome, Okamoto type", "equivalent_identifiers": ["MONDO:0011149", "OMIM:601811", "UMLS:C1866183", "MESH:C566621", "medgen:356468"], "information_content": 100.0}
{"id": "MONDO:0019475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subcutaneous panniculitis-like T-cell lymphoma", "equivalent_identifiers": ["MONDO:0019475", "OMIM:618398", "orphanet:86884", "EFO:1000552", "UMLS:C0522624", "MESH:C537503", "NCIT:C6918", "SNOMEDCT:103682005", "SNOMEDCT:404133000", "medgen:99306", "icd11.foundation:1550338805", "HP:0034403"], "information_content": 92.8}
{"id": "MONDO:0859335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 15", "equivalent_identifiers": ["MONDO:0859335", "DOID:0081347", "OMIM:620161", "UMLS:C5774273", "medgen:1824046"], "information_content": 100.0}
{"id": "MONDO:0030975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 20", "equivalent_identifiers": ["MONDO:0030975", "OMIM:619938", "UMLS:C5677011", "medgen:1808256"], "information_content": 100.0}
{"id": "MONDO:0060666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome", "equivalent_identifiers": ["MONDO:0060666", "OMIM:617915", "UMLS:C4693578", "NCIT:C192635", "medgen:1647427"], "information_content": 100.0}
{"id": "OMIM:125530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermal Ridges, Nelson Syndrome", "equivalent_identifiers": ["OMIM:125530", "UMLS:C1852161", "MESH:C565110"]}
{"id": "MONDO:0009731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrosis-deafness-urinary tract-digital malformations syndrome", "equivalent_identifiers": ["MONDO:0009731", "OMIM:256200", "orphanet:2669", "UMLS:C1850552", "MESH:C536402", "medgen:340568"], "information_content": 100.0}
{"id": "HP:0009650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009650", "UMLS:C1862313"], "information_content": 100.0}
{"id": "HP:0010103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of hallux", "equivalent_identifiers": ["HP:0010103", "UMLS:C4021335"], "information_content": 100.0}
{"id": "MONDO:0007072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ADULT syndrome", "equivalent_identifiers": ["MONDO:0007072", "DOID:0050601", "OMIM:103285", "orphanet:978", "UMLS:C1863204", "MESH:C538052", "SNOMEDCT:720464003", "medgen:400232", "icd11.foundation:1445741645"], "information_content": 100.0}
{"id": "MONDO:0007401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", "equivalent_identifiers": ["MONDO:0007401", "OMIM:123155", "orphanet:1538", "UMLS:C1838347", "UMLS:C4304196", "MESH:C563973", "SNOMEDCT:720813007", "medgen:325006"], "information_content": 100.0}
{"id": "MONDO:0007491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystelephalangy", "equivalent_identifiers": ["MONDO:0007491", "OMIM:128000", "UMLS:C1851955", "MESH:C538000", "medgen:343690"], "information_content": 100.0}
{"id": "HP:0004226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curved distal phalanx of the 5th finger", "equivalent_identifiers": ["HP:0004226", "UMLS:C4021672"], "information_content": 100.0}
{"id": "MONDO:0030837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities", "equivalent_identifiers": ["MONDO:0030837", "OMIM:619092", "UMLS:C5436788", "medgen:1764121"], "information_content": 100.0}
{"id": "HP:5200356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleep onset rapid eye movement period", "equivalent_identifiers": ["HP:5200356", "UMLS:C5873011"], "information_content": 100.0}
{"id": "HP:0002494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal rapid eye movement sleep", "equivalent_identifiers": ["HP:0002494", "UMLS:C0392188", "MEDDRA:10037841", "MEDDRA:10038313", "MEDDRA:10041006", "SNOMEDCT:69020003"], "information_content": 82.1}
{"id": "HP:0002519", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypnagogic hallucination", "equivalent_identifiers": ["HP:0002519", "UMLS:C0233773", "MEDDRA:10020927", "SNOMEDCT:44780000"], "information_content": 100.0}
{"id": "HP:0025233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleep paralysis", "equivalent_identifiers": ["HP:0025233", "NCIT:C118171", "UMLS:C0456511", "MEDDRA:10041002", "SNOMEDCT:277180005", "MESH:D020188"], "information_content": 92.8}
{"id": "HP:0006896", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypnopompic hallucination", "equivalent_identifiers": ["HP:0006896", "UMLS:C0424082", "MEDDRA:10020928", "SNOMEDCT:69690008"], "information_content": 100.0}
{"id": "MONDO:0021107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "narcolepsy", "equivalent_identifiers": ["MONDO:0021107", "DOID:8986", "orphanet:619284", "UMLS:C0027404", "MESH:D009290", "MEDDRA:10028713", "NCIT:C84489", "SNOMEDCT:60380001", "medgen:45001", "icd11.foundation:1201727099", "ICD10:G47.41", "ICD9:347.0", "HP:0030050"], "information_content": 83.1}
{"id": "MONDO:0010230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 23", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010230", "DOID:0112049", "OMIM:300046", "UMLS:C0796229", "MESH:C563144", "medgen:163234"], "information_content": 100.0}
{"id": "MONDO:0014614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1G", "equivalent_identifiers": ["MONDO:0014614", "DOID:0110714", "OMIM:616389", "UMLS:C4225345", "medgen:906532"], "information_content": 100.0}
{"id": "MONDO:0007631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16p12.1 deletion syndrome, 520kb", "equivalent_identifiers": ["MONDO:0007631", "DOID:0060399", "OMIM:136570", "UMLS:C1850985", "UMLS:C3149276", "UMLS:C5574897", "MESH:C565001", "NCIT:C129875", "medgen:460626"], "information_content": 100.0}
{"id": "HP:0005172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left posterior fascicular block", "equivalent_identifiers": ["HP:0005172", "UMLS:C0264913", "MEDDRA:10024114", "MEDDRA:10071158", "SNOMEDCT:62026008"], "information_content": 100.0}
{"id": "HP:0005170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete heart block with broad QRS complexes", "equivalent_identifiers": ["HP:0005170", "UMLS:C1861987", "UMLS:C4476543"], "information_content": 100.0}
{"id": "MONDO:0011731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucose-galactose malabsorption", "equivalent_identifiers": ["MONDO:0011731", "DOID:0070563", "OMIM:606824", "orphanet:35710", "UMLS:C0268186", "MESH:C562602", "MEDDRA:10066388", "SNOMEDCT:190749000", "medgen:78647", "icd11.foundation:2108415931"], "information_content": 95.4}
{"id": "MONDO:0033369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 60", "equivalent_identifiers": ["MONDO:0033369", "DOID:0080432", "OMIM:617929", "UMLS:C4693663", "medgen:1638894"], "information_content": 100.0}
{"id": "MONDO:0859327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 110", "equivalent_identifiers": ["MONDO:0859327", "DOID:0070395", "OMIM:620149", "UMLS:C5774265", "medgen:1824038"], "information_content": 100.0}
{"id": "HP:0032799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal impaired awareness hemiclonic seizure", "equivalent_identifiers": ["HP:0032799", "UMLS:C5397806"], "information_content": 100.0}
{"id": "MONDO:0030891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 66", "equivalent_identifiers": ["MONDO:0030891", "DOID:0061039", "OMIM:619910", "UMLS:C5677000", "medgen:1812470"], "information_content": 100.0}
{"id": "MONDO:0011011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal dysplasia-epilepsy-short stature syndrome", "equivalent_identifiers": ["MONDO:0011011", "OMIM:601187", "orphanet:1858", "UMLS:C0796046", "MESH:C537625", "SNOMEDCT:715428003", "medgen:208660"], "information_content": 100.0}
{"id": "HP:0005638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased anterioposterior diameter of lumbar vertebral bodies", "equivalent_identifiers": ["HP:0005638", "UMLS:C4025168"], "information_content": 100.0}
{"id": "MONDO:0010192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 4A", "equivalent_identifiers": ["MONDO:0010192", "DOID:0110953", "OMIM:277580", "UMLS:C1848519", "MESH:C536467", "medgen:341244"], "information_content": 100.0}
{"id": "MONDO:8000013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "portal hypertension, noncirrhotic, 1", "equivalent_identifiers": ["MONDO:8000013", "OMIM:617068"], "information_content": 100.0}
{"id": "MONDO:0009878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary hormone deficiency, combined, 2", "equivalent_identifiers": ["MONDO:0009878", "DOID:0061020", "OMIM:262600", "UMLS:C0878683", "MESH:C563172", "medgen:209236"], "information_content": 100.0}
{"id": "HP:0011043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating adrenocorticotropin concentration", "equivalent_identifiers": ["HP:0011043", "UMLS:C4023574", "UMLS:C5209219"], "information_content": 85.5}
{"id": "MONDO:0012227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 7", "inheritance": "Multifactorial inheritance", "equivalent_identifiers": ["MONDO:0012227", "OMIM:609256", "UMLS:C1836506", "MESH:C563761", "medgen:373105"], "information_content": 100.0}
{"id": "MONDO:0013803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with calcifications and cysts", "equivalent_identifiers": ["MONDO:0013803", "OMIM:614561", "orphanet:542310", "UMLS:C3281200", "MESH:C000598644", "MEDDRA:10084766", "SNOMEDCT:1186710001", "medgen:482830"], "information_content": 100.0}
{"id": "MONDO:0011484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia 1", "equivalent_identifiers": ["MONDO:0011484", "DOID:0060675", "OMIM:604772", "UMLS:C1631597", "UMLS:C1832931", "MESH:C563409", "NCIT:C123414", "medgen:351513", "ICD10:I42.8"], "information_content": 100.0}
{"id": "HP:0034039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular couplet", "equivalent_identifiers": ["HP:0034039", "NCIT:C62259", "UMLS:C0429001", "MEDDRA:10063589", "SNOMEDCT:251182009"], "information_content": 100.0}
{"id": "MONDO:0022568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bidirectional tachycardia", "equivalent_identifiers": ["MONDO:0022568", "UMLS:C2930902", "MESH:C535438", "SNOMEDCT:1204171000", "medgen:418944", "HP:0034040"], "information_content": 100.0}
{"id": "HP:0004758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Effort-induced polymorphic ventricular tachycardia", "equivalent_identifiers": ["HP:0004758", "UMLS:C4025298"], "information_content": 100.0}
{"id": "MONDO:0020730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carpal tunnel syndrome 1", "equivalent_identifiers": ["MONDO:0020730", "DOID:0070466", "OMIM:115430", "UMLS:C5779776", "medgen:1830382"], "information_content": 100.0}
{"id": "MONDO:0004574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxine deficiency anemia", "equivalent_identifiers": ["MONDO:0004574", "DOID:8455", "UMLS:C0272013", "UMLS:C0936215", "UMLS:C1527330", "UMLS:C5886923", "MESH:D026681", "MEDDRA:10002081", "MEDDRA:10002278", "MEDDRA:10002310", "MEDDRA:10037671", "MEDDRA:10037672", "MEDDRA:10047617", "MEDDRA:10054316", "MEDDRA:10055714", "MEDDRA:10055721", "MEDDRA:10055740", "NCIT:C85221", "SNOMEDCT:386080007", "SNOMEDCT:86448001", "medgen:543733", "ICD10:E53.1", "ICD9:266.1", "HP:0008326"], "information_content": 100.0}
{"id": "MONDO:0013628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia with intellectual disability syndrome 3", "equivalent_identifiers": ["MONDO:0013628", "DOID:0070435", "OMIM:614207", "UMLS:C3280153", "medgen:481783"], "information_content": 100.0}
{"id": "MONDO:0014051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "equivalent_identifiers": ["MONDO:0014051", "DOID:0080358", "OMIM:615119", "UMLS:C3554534", "medgen:767448"], "information_content": 100.0}
{"id": "HP:0007146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral basal ganglia lesions", "equivalent_identifiers": ["HP:0007146", "UMLS:C4024932"], "information_content": 100.0}
{"id": "MONDO:0014626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 41", "equivalent_identifiers": ["MONDO:0014626", "DOID:0111744", "OMIM:616410", "orphanet:458798", "EFO:0009058", "UMLS:C4225158", "SNOMEDCT:1208512000", "medgen:908281"], "information_content": 100.0}
{"id": "MONDO:0012289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 5", "equivalent_identifiers": ["MONDO:0012289", "DOID:0080096", "OMIM:609524", "orphanet:171445", "UMLS:C1836050", "MESH:C537932", "medgen:372186"], "information_content": 100.0}
{"id": "MONDO:0003620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral nervous system disorder", "equivalent_identifiers": ["MONDO:0003620", "DOID:574", "EFO:0009387", "UMLS:C1335029", "UMLS:C4025831", "UMLS:C4721453", "MESH:D010523", "MEDDRA:10029331", "MEDDRA:10034606", "MEDDRA:10034610", "MEDDRA:10051174", "MEDDRA:10080342", "NCIT:C27580", "NCIT:C27587", "SNOMEDCT:302226006", "SNOMEDCT:42658009", "medgen:892389", "HP:0000759"], "information_content": 56.8}
{"id": "MONDO:0030543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 54", "equivalent_identifiers": ["MONDO:0030543", "DOID:0070427", "OMIM:619737", "UMLS:C5676912", "medgen:1812715"], "information_content": 100.0}
{"id": "MONDO:0002800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophlebitis", "equivalent_identifiers": ["MONDO:0002800", "DOID:3875", "UMLS:C0040046", "UMLS:C0265057", "MESH:D013924", "MEDDRA:10042557", "MEDDRA:10043570", "MEDDRA:10043579", "MEDDRA:10043587", "MEDDRA:10047247", "NCIT:C3410", "SNOMEDCT:40283005", "SNOMEDCT:64156001", "medgen:11799", "ICD10:I80.0", "ICD9:451.0", "HP:0004418"], "information_content": 90.9}
{"id": "MONDO:0024335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retrobulbar neuritis", "equivalent_identifiers": ["MONDO:0024335", "UMLS:C0085582", "MEDDRA:10029249", "MEDDRA:10030945", "MEDDRA:10038955", "MEDDRA:10038962", "SNOMEDCT:230507009", "medgen:39312", "icd11.foundation:63567539", "HP:0100654"], "information_content": 95.4}
{"id": "MONDO:0007306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klippel-Feil syndrome 1, autosomal dominant", "equivalent_identifiers": ["MONDO:0007306", "DOID:0080589", "OMIM:118100", "UMLS:C1861689", "MESH:C536887", "medgen:396196"], "information_content": 100.0}
{"id": "HP:0002813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal limb bone morphology", "equivalent_identifiers": ["HP:0002813", "UMLS:C4082761"], "information_content": 46.8}
{"id": "HP:0030325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervicomedullary schisis", "equivalent_identifiers": ["HP:0030325", "UMLS:C4022510"], "information_content": 100.0}
{"id": "MONDO:0032744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 37", "equivalent_identifiers": ["MONDO:0032744", "DOID:0111927", "OMIM:618429", "UMLS:C5193091", "medgen:1677534"], "information_content": 100.0}
{"id": "MONDO:0013634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory, type 2C", "equivalent_identifiers": ["MONDO:0013634", "DOID:0070147", "OMIM:614213", "UMLS:C3280168", "medgen:481798"], "information_content": 100.0}
{"id": "MONDO:0011227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome", "equivalent_identifiers": ["MONDO:0011227", "OMIM:602471", "orphanet:397623", "UMLS:C1563296", "UMLS:C1865361", "MESH:C566544", "SNOMEDCT:417081007", "medgen:355971"], "information_content": 100.0}
{"id": "HP:0006595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scapulohumeral synostosis", "equivalent_identifiers": ["HP:0006595", "UMLS:C1865362"], "information_content": 100.0}
{"id": "MONDO:0009183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "junctional epidermolysis bullosa with pyloric atresia", "equivalent_identifiers": ["MONDO:0009183", "DOID:0060733", "OMIM:226730", "orphanet:79403", "UMLS:C1856934", "UMLS:C5676875", "MESH:C535377", "NCIT:C162474", "medgen:1810975", "icd11.foundation:1877890811", "ICD10:Q81.8"], "information_content": 100.0}
{"id": "HP:0034378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethrovesical occlusion", "equivalent_identifiers": ["HP:0034378", "UMLS:C2673586"], "information_content": 95.4}
{"id": "MONDO:0007952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maxillofacial dysostosis", "equivalent_identifiers": ["MONDO:0007952", "OMIM:155000", "UMLS:C1835088", "MESH:C563599", "medgen:320517"], "information_content": 100.0}
{"id": "MONDO:0044720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CANVAS syndrome", "equivalent_identifiers": ["MONDO:0044720", "OMIM:614575", "orphanet:504476", "UMLS:C3281223", "MESH:C000726747", "MEDDRA:10078216", "MEDDRA:10078222", "NCIT:C202046", "SNOMEDCT:1236804009", "medgen:482853"], "information_content": 100.0}
{"id": "MONDO:0100312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vestibular ataxia", "equivalent_identifiers": ["MONDO:0100312", "UMLS:C0235927", "UMLS:C4015052", "MEDDRA:10003595", "MEDDRA:10047385", "MEDDRA:10080749", "SNOMEDCT:22443004", "medgen:863489", "HP:0008568"], "information_content": 100.0}
{"id": "MONDO:0012544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-syndactyly syndrome", "equivalent_identifiers": ["MONDO:0012544", "DOID:0050689", "OMIM:610713", "orphanet:93409", "UMLS:C1853137", "MESH:C565193", "medgen:377836"], "information_content": 100.0}
{"id": "MONDO:0010245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cone-rod dystrophy 2", "equivalent_identifiers": ["MONDO:0010245", "DOID:0111006", "OMIM:300085", "UMLS:C1848139", "MESH:C564717", "medgen:341161"], "information_content": 100.0}
{"id": "MONDO:0008453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset proximal spinal muscular atrophy, autosomal dominant", "equivalent_identifiers": ["MONDO:0008453", "DOID:0111194", "OMIM:182980", "orphanet:209335", "UMLS:C1854058", "MESH:C566673", "SNOMEDCT:784391002", "medgen:340120"], "information_content": 100.0}
{"id": "MONDO:0014605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Houge-Janssens syndrome 2", "equivalent_identifiers": ["MONDO:0014605", "DOID:0070066", "OMIM:616362", "orphanet:457284", "UMLS:C4225352", "SNOMEDCT:1254650002", "medgen:899880"], "information_content": 100.0}
{"id": "HP:0009179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of the 5th finger", "equivalent_identifiers": ["HP:0009179", "UMLS:C4021515"], "information_content": 89.4}
{"id": "MONDO:0007898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte nuclear appendages, hereditary prevalence of", "equivalent_identifiers": ["MONDO:0007898", "OMIM:151500", "UMLS:C1835405", "MESH:C563626", "medgen:320594"], "information_content": 100.0}
{"id": "MONDO:0033637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 7", "equivalent_identifiers": ["MONDO:0033637", "DOID:0070494", "OMIM:619051", "UMLS:C5436685", "medgen:1754683"], "information_content": 100.0}
{"id": "MONDO:0020792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dwarfism with tall vertebrae", "equivalent_identifiers": ["MONDO:0020792", "OMIM:126950", "UMLS:C1851996", "MESH:C535725", "medgen:338839"], "information_content": 100.0}
{"id": "MONDO:0012222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kanzaki disease", "equivalent_identifiers": ["MONDO:0012222", "DOID:0112319", "OMIM:609242", "orphanet:79280", "UMLS:C1836522", "SNOMEDCT:880065001", "medgen:324539", "icd11.foundation:266505438"], "information_content": 100.0}
{"id": "HP:0007428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Telangiectasia of the oral mucosa", "equivalent_identifiers": ["HP:0007428", "UMLS:C4024882"], "information_content": 100.0}
{"id": "MONDO:0014290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 6", "equivalent_identifiers": ["MONDO:0014290", "DOID:0110740", "OMIM:615643", "orphanet:397725", "UMLS:C4517377", "SNOMEDCT:732264002", "medgen:1387791"], "information_content": 100.0}
{"id": "HP:0033329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal postural reflex", "equivalent_identifiers": ["HP:0033329", "UMLS:C0234155", "SNOMEDCT:79672008"], "information_content": 95.4}
{"id": "MONDO:0032705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination", "equivalent_identifiers": ["MONDO:0032705", "OMIM:618367", "orphanet:597874", "UMLS:C5193057", "SNOMEDCT:1300128003", "medgen:1684142"], "information_content": 100.0}
{"id": "HP:0012498", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nuchal cord", "equivalent_identifiers": ["HP:0012498", "NCIT:C113153", "UMLS:C0405124", "MEDDRA:10045447", "SNOMEDCT:302929008", "MESH:D053589"], "information_content": 100.0}
{"id": "MONDO:0007337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate-lateral synechia syndrome", "equivalent_identifiers": ["MONDO:0007337", "DOID:0080313", "OMIM:119550", "orphanet:2016", "UMLS:C0795898", "MESH:C563047", "SNOMEDCT:403772000", "medgen:162888"], "information_content": 100.0}
{"id": "MONDO:0014889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "striatonigral degeneration, childhood-onset", "equivalent_identifiers": ["MONDO:0014889", "OMIM:617054", "orphanet:497906", "UMLS:C4310743", "SNOMEDCT:1172584005", "medgen:934710"], "information_content": 100.0}
{"id": "MONDO:0033643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 30", "equivalent_identifiers": ["MONDO:0033643", "DOID:0112154", "OMIM:619079", "UMLS:C5436750", "medgen:1737985"], "information_content": 100.0}
{"id": "MONDO:0011638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroferritinopathy", "equivalent_identifiers": ["MONDO:0011638", "DOID:0110737", "OMIM:606159", "orphanet:157846", "UMLS:C1853578", "MESH:C548080", "SNOMEDCT:699299001", "medgen:381211"], "information_content": 100.0}
{"id": "HP:0031908", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Micrographia", "equivalent_identifiers": ["HP:0031908", "UMLS:C0240341", "MEDDRA:10057333", "SNOMEDCT:725122008"], "information_content": 100.0}
{"id": "HP:0007007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cavitation of the basal ganglia", "equivalent_identifiers": ["HP:0007007", "UMLS:C4024952"], "information_content": 100.0}
{"id": "HP:0012343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating ferritin concentration", "equivalent_identifiers": ["HP:0012343", "UMLS:C0241012", "UMLS:C0580418", "MEDDRA:10040249", "SNOMEDCT:165626000"], "information_content": 100.0}
{"id": "MONDO:0970951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "El Hayek-Chahrour neurodevelopmental disorder", "equivalent_identifiers": ["MONDO:0970951", "OMIM:620820", "UMLS:C5935620", "medgen:1863287"], "information_content": 100.0}
{"id": "MONDO:0060589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial palsy, congenital, with ptosis and velopharyngeal dysfunction", "equivalent_identifiers": ["MONDO:0060589", "OMIM:617732", "UMLS:C4540277", "medgen:1623077"], "information_content": 100.0}
{"id": "MONDO:0012074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibuloacral dysplasia with type B lipodystrophy", "equivalent_identifiers": ["MONDO:0012074", "DOID:0081129", "OMIM:608612", "orphanet:90154", "UMLS:C1837756", "MESH:C535706", "SNOMEDCT:1003432003", "medgen:332940", "icd11.foundation:1199517264"], "information_content": 100.0}
{"id": "HP:0005995", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased adipose tissue around neck", "equivalent_identifiers": ["HP:0005995", "UMLS:C1837763"], "information_content": 100.0}
{"id": "MONDO:0013304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "von Willebrand disease 2", "equivalent_identifiers": ["MONDO:0013304", "DOID:0060574", "OMIM:613554", "orphanet:166081", "UMLS:C1264040", "MESH:D056728", "SNOMEDCT:128107007", "medgen:224736", "ICD10:D68.02"], "information_content": 89.4}
{"id": "MONDO:0010075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures", "equivalent_identifiers": ["MONDO:0010075", "DOID:0112198", "OMIM:271640", "orphanet:642099", "UMLS:C4017377", "SNOMEDCT:1286833006", "medgen:865814"], "information_content": 100.0}
{"id": "HP:0430047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large joint hypermobilty", "equivalent_identifiers": ["HP:0430047", "UMLS:C5936806"], "information_content": 92.8}
{"id": "HP:0008828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed proximal femoral epiphyseal ossification", "equivalent_identifiers": ["HP:0008828", "UMLS:C1855222"], "information_content": 95.4}
{"id": "MONDO:0011226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 15", "equivalent_identifiers": ["MONDO:0011226", "DOID:0110546", "OMIM:602459", "UMLS:C1865366", "MESH:C566545", "medgen:355451"], "information_content": 100.0}
{"id": "MONDO:0009998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Richieri Costa-Pereira syndrome", "equivalent_identifiers": ["MONDO:0009998", "OMIM:268305", "orphanet:3102", "UMLS:C1849348", "MESH:C535677", "SNOMEDCT:723998001", "medgen:336581", "icd11.foundation:107084177"], "information_content": 100.0}
{"id": "MONDO:0007824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "incisors, lower central, absence of", "equivalent_identifiers": ["MONDO:0007824", "OMIM:147330", "UMLS:C1840225", "UMLS:C4025054", "medgen:333512", "HP:0006355"], "information_content": 92.8}
{"id": "HP:0009094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft lower alveolar ridge", "equivalent_identifiers": ["HP:0009094", "UMLS:C1849350", "UMLS:C4280404", "UMLS:C4280405", "UMLS:C4280406"], "information_content": 100.0}
{"id": "HP:0100499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial deviation of toes", "equivalent_identifiers": ["HP:0100499", "UMLS:C3806533"], "information_content": 100.0}
{"id": "HP:0008744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal aryepiglottic fold morphology", "equivalent_identifiers": ["HP:0008744", "UMLS:C1849357"], "information_content": 100.0}
{"id": "MONDO:0011001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 1", "equivalent_identifiers": ["MONDO:0011001", "DOID:0110218", "OMIM:601144", "UMLS:C4551804", "medgen:1646402"], "information_content": 100.0}
{"id": "HP:0011688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supraventricular tachycardia with an accessory connection mediated pathway", "equivalent_identifiers": ["HP:0011688", "UMLS:C4021132"], "information_content": 84.8}
{"id": "MONDO:8000011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visceral neuropathy, familial, 1, autosomal recessive", "equivalent_identifiers": ["MONDO:8000011", "DOID:0080679", "OMIM:243180", "orphanet:99811", "UMLS:C1855733", "MESH:C537394", "medgen:340946"], "information_content": 100.0}
{"id": "HP:0005249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Functional intestinal obstruction", "equivalent_identifiers": ["HP:0005249", "NCIT:C101033", "UMLS:C3639956"], "information_content": 100.0}
{"id": "HP:0002574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic abdominal pain", "equivalent_identifiers": ["HP:0002574", "UMLS:C0262527", "UMLS:C3808022"], "information_content": 100.0}
{"id": "MONDO:0032735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 48", "equivalent_identifiers": ["MONDO:0032735", "DOID:0070354", "OMIM:618415", "UMLS:C5193082", "medgen:1684457"], "information_content": 100.0}
{"id": "MONDO:0018657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome", "equivalent_identifiers": ["MONDO:0018657", "OMIM:618373", "orphanet:447961", "UMLS:C5193062", "UMLS:C5681108", "SNOMEDCT:1230005002", "medgen:1807813"], "information_content": 100.0}
{"id": "MONDO:0012669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Legius syndrome", "equivalent_identifiers": ["MONDO:0012669", "DOID:0070484", "OMIM:611431", "orphanet:137605", "UMLS:C1969623", "MESH:C548032", "NCIT:C176941", "SNOMEDCT:703541007", "medgen:370709", "icd11.foundation:1025118245"], "information_content": 100.0}
{"id": "MONDO:0800167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knobloch syndrome 1", "equivalent_identifiers": ["MONDO:0800167", "OMIM:267750", "orphanet:1571", "UMLS:C4551775", "MESH:C537209", "NCIT:C201594", "SNOMEDCT:703542000", "medgen:1642123"], "information_content": 100.0}
{"id": "MONDO:0012807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 5C, with pyloric atresia", "equivalent_identifiers": ["MONDO:0012807", "OMIM:612138", "orphanet:158684", "UMLS:C2677349", "MESH:C567408", "SNOMEDCT:716701004", "medgen:436922"], "information_content": 100.0}
{"id": "MONDO:0019570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cockayne syndrome type 2", "equivalent_identifiers": ["MONDO:0019570", "DOID:0080908", "OMIM:133540", "orphanet:90322", "UMLS:C0751038", "NCIT:C135726", "SNOMEDCT:890434000", "medgen:155487", "icd11.foundation:1604701958"], "information_content": 100.0}
{"id": "HP:0010234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ivory epiphyses of the phalanges of the hand", "equivalent_identifiers": ["HP:0010234", "UMLS:C1857651"], "information_content": 79.0}
{"id": "HP:0002545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy demyelination of subcortical white matter", "equivalent_identifiers": ["HP:0002545", "UMLS:C1857638"], "information_content": 100.0}
{"id": "HP:0003130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal peripheral myelination", "equivalent_identifiers": ["HP:0003130", "UMLS:C4025648"], "information_content": 79.6}
{"id": "HP:0007346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcortical white matter calcifications", "equivalent_identifiers": ["HP:0007346", "UMLS:C1851430"], "information_content": 100.0}
{"id": "HP:0003224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased cellular sensitivity to UV light", "equivalent_identifiers": ["HP:0003224", "UMLS:C1857707"], "information_content": 100.0}
{"id": "MONDO:0010574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 5", "equivalent_identifiers": ["MONDO:0010574", "DOID:0060800", "OMIM:304340", "orphanet:1568", "orphanet:85329", "UMLS:C0796254", "UMLS:C1845078", "MESH:C535773", "MESH:C564470", "NCIT:C124839", "SNOMEDCT:719139003", "medgen:162924"], "information_content": 100.0}
{"id": "MONDO:0859218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with variable neurologic and brain abnormalities", "equivalent_identifiers": ["MONDO:0859218", "OMIM:619694", "UMLS:C5562060", "medgen:1794270"], "information_content": 100.0}
{"id": "MONDO:0012123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation type 1E", "equivalent_identifiers": ["MONDO:0012123", "DOID:0080557", "OMIM:608799", "orphanet:79322", "UMLS:C1837396", "MESH:C535743", "NCIT:C126871", "SNOMEDCT:725078006", "medgen:324784"], "information_content": 100.0}
{"id": "HP:0001103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal macular morphology", "equivalent_identifiers": ["HP:0001103", "UMLS:C0730362", "UMLS:C4520679", "MEDDRA:10025397", "MEDDRA:10025399", "MEDDRA:10025425", "SNOMEDCT:312999006"], "information_content": 68.6}
{"id": "MONDO:0031044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "advance sleep phase syndrome, familial, 4", "equivalent_identifiers": ["MONDO:0031044", "DOID:0061006", "OMIM:620015", "UMLS:C5774204", "medgen:1823977"], "information_content": 100.0}
{"id": "MONDO:0008659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transcobalamin I deficiency", "equivalent_identifiers": ["MONDO:0008659", "OMIM:193090", "orphanet:2967", "UMLS:C0342700", "UMLS:C2674026", "MESH:C562798", "SNOMEDCT:237933007", "medgen:90993"], "information_content": 100.0}
{"id": "MONDO:0009574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly with dysmyelination", "equivalent_identifiers": ["MONDO:0009574", "OMIM:249240", "UMLS:C1855309", "MESH:C565408", "medgen:344470"], "information_content": 100.0}
{"id": "MONDO:0007916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary intestinal lymphangiectasia", "equivalent_identifiers": ["MONDO:0007916", "OMIM:152800", "orphanet:90362", "UMLS:C2931241", "MESH:C536567", "SNOMEDCT:6124009", "medgen:444009", "icd11.foundation:52162548"], "information_content": 100.0}
{"id": "HP:0008360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal hypoproteinemia", "equivalent_identifiers": ["HP:0008360", "UMLS:C4024691"], "information_content": 100.0}
{"id": "HP:0006641", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent floating ribs", "equivalent_identifiers": ["HP:0006641", "UMLS:C4025012"], "information_content": 100.0}
{"id": "MONDO:0859214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marbach-Schaaf neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859214", "OMIM:619680", "UMLS:C5562050", "medgen:1794260"], "information_content": 100.0}
{"id": "MONDO:0044327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic liver disease 4 with or without kidney cysts", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0044327", "DOID:0060977", "OMIM:617875", "UMLS:C4693479", "medgen:1644991"], "information_content": 100.0}
{"id": "MONDO:0007038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achoo syndrome", "equivalent_identifiers": ["MONDO:0007038", "OMIM:100820", "EFO:0007887", "UMLS:C1863416", "MESH:C535300", "medgen:400287"], "information_content": 100.0}
{"id": "HP:0025096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal sneezing", "equivalent_identifiers": ["HP:0025096", "UMLS:C0858634", "MEDDRA:10034043"], "information_content": 100.0}
{"id": "MONDO:0800132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency", "equivalent_identifiers": ["MONDO:0800132", "OMIM:619858", "UMLS:C5676977", "medgen:1803642"], "information_content": 100.0}
{"id": "HP:4000055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intestinal inflammation", "equivalent_identifiers": ["HP:4000055", "UMLS:C3889047", "MEDDRA:10076319"], "information_content": 100.0}
{"id": "MONDO:0859275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with spasticity, seizures, and brain abnormalities", "equivalent_identifiers": ["MONDO:0859275", "OMIM:620001", "UMLS:C5774197", "medgen:1823970"], "information_content": 100.0}
{"id": "MONDO:0008198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parietal foramina with cleidocranial dysplasia", "equivalent_identifiers": ["MONDO:0008198", "OMIM:168550", "orphanet:251290", "UMLS:C1868597", "MESH:C566825", "SNOMEDCT:771338002", "medgen:401479"], "information_content": 100.0}
{"id": "MONDO:0958328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 11", "equivalent_identifiers": ["MONDO:0958328", "OMIM:620767", "UMLS:C5935595", "medgen:1855399"], "information_content": 100.0}
{"id": "HP:0010800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent cupid's bow", "equivalent_identifiers": ["HP:0010800", "UMLS:C2053435"], "information_content": 100.0}
{"id": "HP:0100040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad 2nd toe", "equivalent_identifiers": ["HP:0100040", "UMLS:C4022381"], "information_content": 100.0}
{"id": "MONDO:0011490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse panbronchiolitis", "equivalent_identifiers": ["MONDO:0011490", "OMIM:604809", "orphanet:171700", "UMLS:C0878555", "MESH:C536174", "MEDDRA:10062952", "NCIT:C202116", "SNOMEDCT:430476004", "medgen:163897", "icd11.foundation:291357751"], "information_content": 100.0}
{"id": "HP:0030831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhonchi", "equivalent_identifiers": ["HP:0030831", "NCIT:C87116", "UMLS:C0035508", "MEDDRA:10039109", "MEDDRA:10039110", "SNOMEDCT:24612001"], "information_content": 100.0}
{"id": "MONDO:0008209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Char syndrome", "equivalent_identifiers": ["MONDO:0008209", "DOID:0060563", "OMIM:169100", "orphanet:46627", "UMLS:C1868570", "MESH:C566815", "SNOMEDCT:703534001", "medgen:358356"], "information_content": 100.0}
{"id": "HP:0025234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parasomnia", "equivalent_identifiers": ["HP:0025234", "NCIT:C94836", "UMLS:C0030508", "MEDDRA:10033919", "MEDDRA:10033920", "MEDDRA:10061910", "SNOMEDCT:58690002", "MESH:D020447"], "information_content": 78.8}
{"id": "HP:0009244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal/middle symphalangism of 5th finger", "equivalent_identifiers": ["HP:0009244", "UMLS:C1868573", "UMLS:C4020781"], "information_content": 100.0}
{"id": "MONDO:0007415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 1", "equivalent_identifiers": ["MONDO:0007415", "DOID:0080111", "OMIM:124000", "UMLS:C3541471", "MESH:C565128", "medgen:762097"], "information_content": 95.4}
{"id": "HP:0006789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitochondrial encephalopathy", "equivalent_identifiers": ["HP:0006789", "UMLS:C1852373", "MEDDRA:10074070", "MESH:C538525"], "information_content": 100.0}
{"id": "MONDO:0013245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic multisystem autoimmune disease due to ITCH deficiency", "equivalent_identifiers": ["MONDO:0013245", "OMIM:613385", "orphanet:228426", "UMLS:C3150649", "medgen:461999", "icd11.foundation:1970749000"], "information_content": 100.0}
{"id": "MONDO:0013043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome with C3 anomaly", "equivalent_identifiers": ["MONDO:0013043", "OMIM:612925", "UMLS:C2752037", "medgen:442875"], "information_content": 100.0}
{"id": "MONDO:0014042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left ventricular noncompaction 7", "equivalent_identifiers": ["MONDO:0014042", "OMIM:615092", "UMLS:C3554496", "NCIT:C157266", "medgen:767410"], "information_content": 100.0}
{"id": "MONDO:0010625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein", "equivalent_identifiers": ["MONDO:0010625", "OMIM:308220", "UMLS:C1839982", "MESH:C564120", "medgen:326624"], "information_content": 100.0}
{"id": "MONDO:0859286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures", "equivalent_identifiers": ["MONDO:0859286", "DOID:0070536", "OMIM:620029", "UMLS:C5774213", "medgen:1823986"], "information_content": 100.0}
{"id": "MONDO:0859246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, childhood-onset, remitting", "equivalent_identifiers": ["MONDO:0859246", "OMIM:619864", "UMLS:C5676979", "medgen:1804145"], "information_content": 100.0}
{"id": "MONDO:0011840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1M", "equivalent_identifiers": ["MONDO:0011840", "DOID:0110449", "OMIM:607482", "UMLS:C1843808", "MESH:C564390", "medgen:334498"], "information_content": 100.0}
{"id": "MONDO:0024538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 1", "equivalent_identifiers": ["MONDO:0024538", "OMIM:213600", "UMLS:C1847731", "UMLS:C4551624", "MESH:C537657", "MEDDRA:10078822", "NCIT:C129973", "medgen:1637664"], "information_content": 100.0}
{"id": "HP:0002504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcification of the small brain vessels", "equivalent_identifiers": ["HP:0002504", "UMLS:C4025703"], "information_content": 100.0}
{"id": "MONDO:0033479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 44", "equivalent_identifiers": ["MONDO:0033479", "DOID:0080286", "OMIM:617691", "orphanet:631095", "UMLS:C4521563", "medgen:1611168"], "information_content": 100.0}
{"id": "MONDO:0800026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "equivalent_identifiers": ["MONDO:0800026", "DOID:0060731", "OMIM:209880", "orphanet:661", "UMLS:C0020681", "UMLS:C5562075", "MEDDRA:10007982", "NCIT:C98889", "SNOMEDCT:230499002", "SNOMEDCT:405272003", "medgen:1794285", "icd11.foundation:1750742010"], "information_content": 100.0}
{"id": "MONDO:0009014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cornea plana 2", "equivalent_identifiers": ["MONDO:0009014", "OMIM:217300", "UMLS:C1857574", "MESH:C565677", "medgen:346616"], "information_content": 100.0}
{"id": "MONDO:0014408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3", "equivalent_identifiers": ["MONDO:0014408", "OMIM:615938", "UMLS:C4014742", "medgen:863179"], "information_content": 100.0}
{"id": "MONDO:0013249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 84A", "equivalent_identifiers": ["MONDO:0013249", "DOID:0110529", "OMIM:613391", "UMLS:C3150654", "medgen:462004"], "information_content": 100.0}
{"id": "MONDO:0012540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 4", "equivalent_identifiers": ["MONDO:0012540", "DOID:0110017", "OMIM:610698", "UMLS:C1853147", "MESH:C565196", "NCIT:C174215", "medgen:339914"], "information_content": 100.0}
{"id": "MONDO:0012569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitral valve prolapse, myxomatous 3", "equivalent_identifiers": ["MONDO:0012569", "OMIM:610840", "UMLS:C1835814", "MESH:C563655", "medgen:372132"], "information_content": 100.0}
{"id": "MONDO:0009102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaminopentanuria", "equivalent_identifiers": ["MONDO:0009102", "OMIM:222350", "UMLS:C1857285", "MESH:C565630", "medgen:347412"], "information_content": 100.0}
{"id": "MONDO:0002728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdoid tumor", "equivalent_identifiers": ["MONDO:0002728", "DOID:3672", "OMIM:609322", "orphanet:69077", "EFO:0005701", "UMLS:C0206743", "UMLS:C1836326", "UMLS:C1836327", "UMLS:C2750405", "MESH:C563737", "MESH:C563738", "MESH:D018335", "MEDDRA:10073334", "MEDDRA:10073335", "NCIT:C178393", "NCIT:C3808", "SNOMEDCT:1156418001", "SNOMEDCT:83118000", "medgen:64646", "HP:0034557"], "information_content": 75.3}
{"id": "MONDO:0016718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroid plexus carcinoma", "equivalent_identifiers": ["MONDO:0016718", "DOID:5648", "orphanet:251899", "UMLS:C0431109", "MESH:C562943", "MEDDRA:10002225", "MEDDRA:10067478", "NCIT:C4715", "SNOMEDCT:1156471001", "SNOMEDCT:188292007", "SNOMEDCT:88252006", "medgen:96557", "icd11.foundation:1128449352", "HP:0030392"], "information_content": 88.2}
{"id": "MONDO:0014529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar-facial-dental syndrome", "equivalent_identifiers": ["MONDO:0014529", "DOID:0080898", "OMIM:616202", "orphanet:444072", "EFO:0009030", "UMLS:C4015495", "SNOMEDCT:1237475006", "medgen:863932"], "information_content": 100.0}
{"id": "HP:0034259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the midbrain", "equivalent_identifiers": ["HP:0034259", "UMLS:C5676836"], "information_content": 100.0}
{"id": "HP:0006511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngospasm", "equivalent_identifiers": ["HP:0006511", "NCIT:C79609", "UMLS:C0023066", "UMLS:C4551676", "MEDDRA:10023854", "MEDDRA:10023873", "MEDDRA:10023891", "MEDDRA:10041389", "SNOMEDCT:406444002", "SNOMEDCT:41432000", "SNOMEDCT:53787002", "SNOMEDCT:773117009", "MESH:D007826"], "information_content": 100.0}
{"id": "MONDO:0030861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, type 21", "equivalent_identifiers": ["MONDO:0030861", "DOID:0112201", "OMIM:619131", "UMLS:C5436875", "medgen:1723598"], "information_content": 100.0}
{"id": "MONDO:0010890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocardiofacial syndrome", "equivalent_identifiers": ["MONDO:0010890", "DOID:0070419", "OMIM:600460", "orphanet:2008", "UMLS:C1838121", "MESH:C563936", "SNOMEDCT:890221004", "medgen:324947", "icd11.foundation:976844546"], "information_content": 100.0}
{"id": "MONDO:0020007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "absence of the pulmonary artery", "equivalent_identifiers": ["MONDO:0020007", "orphanet:980", "UMLS:C0265905", "SNOMEDCT:86252004", "medgen:120560", "HP:0004960"], "information_content": 95.4}
{"id": "MONDO:0013739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chilblain lupus 2", "equivalent_identifiers": ["MONDO:0013739", "OMIM:614415", "UMLS:C3280721", "medgen:482351"], "information_content": 100.0}
{"id": "MONDO:0007412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beare-Stevenson cutis gyrata syndrome", "equivalent_identifiers": ["MONDO:0007412", "DOID:0050660", "OMIM:123790", "orphanet:1555", "UMLS:C1852406", "MESH:C565129", "NCIT:C123813", "SNOMEDCT:703528008", "medgen:377668", "icd11.foundation:947865461"], "information_content": 100.0}
{"id": "HP:0003246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent scrotal raphe", "equivalent_identifiers": ["HP:0003246", "UMLS:C1852407"], "information_content": 100.0}
{"id": "HP:0004450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Preauricular skin furrow", "equivalent_identifiers": ["HP:0004450", "UMLS:C1852411"], "information_content": 100.0}
{"id": "HP:0034361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Redundant umbilical skin", "equivalent_identifiers": ["HP:0034361", "UMLS:C4013878"], "information_content": 100.0}
{"id": "MONDO:0008275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial expansile osteolysis", "equivalent_identifiers": ["MONDO:0008275", "DOID:0111542", "OMIM:174810", "orphanet:85195", "UMLS:C0432292", "MESH:C536335", "SNOMEDCT:254153009", "medgen:96593", "icd11.foundation:1161028858"], "information_content": 100.0}
{"id": "HP:0025124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fragile teeth", "equivalent_identifiers": ["HP:0025124", "UMLS:C2674620"], "information_content": 100.0}
{"id": "MONDO:0012988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "equivalent_identifiers": ["MONDO:0012988", "DOID:0090086", "OMIM:612702", "UMLS:C2675188", "UMLS:C3552574", "MESH:C567199", "medgen:765488"], "information_content": 100.0}
{"id": "MONDO:0009180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "junctional epidermolysis bullosa, non-Herlitz type", "equivalent_identifiers": ["MONDO:0009180", "OMIM:226650", "UMLS:C0079297", "UMLS:C0268374", "UMLS:C0432325", "MESH:C562639", "SNOMEDCT:254193007", "SNOMEDCT:33662006", "medgen:82798"], "information_content": 92.8}
{"id": "HP:0006089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar hyperhidrosis", "equivalent_identifiers": ["HP:0006089", "UMLS:C1856953"], "information_content": 95.4}
{"id": "MONDO:0013715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 16", "equivalent_identifiers": ["MONDO:0013715", "DOID:0060207", "OMIM:614373", "UMLS:C3280587", "medgen:482217"], "information_content": 100.0}
{"id": "MONDO:0010689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked recessive 4", "equivalent_identifiers": ["MONDO:0010689", "DOID:0110212", "OMIM:310490", "orphanet:101078", "UMLS:C0795910", "MESH:C536450", "SNOMEDCT:763400005", "medgen:162891"], "information_content": 100.0}
{"id": "MONDO:0032809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatitis, fulminant viral, susceptibility to", "equivalent_identifiers": ["MONDO:0032809", "OMIM:618549", "UMLS:C5231406", "medgen:1684882"], "information_content": 100.0}
{"id": "MONDO:0014693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 10", "equivalent_identifiers": ["MONDO:0014693", "DOID:0060588", "OMIM:616564", "UMLS:C4225280", "NCIT:C176938", "medgen:902892"], "information_content": 100.0}
{"id": "MONDO:0859213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 8, with or without heterotaxy", "equivalent_identifiers": ["MONDO:0859213", "OMIM:619657", "UMLS:C5562042", "medgen:1794252"], "information_content": 100.0}
{"id": "HP:0011669", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left superior vena cava draining directly to the left atrium", "equivalent_identifiers": ["HP:0011669", "UMLS:C4023238"], "information_content": 100.0}
{"id": "MONDO:0011724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy due to GLUT1 deficiency", "equivalent_identifiers": ["MONDO:0011724", "DOID:0070561", "OMIM:606777", "orphanet:71277", "UMLS:C3149117", "UMLS:C4551966", "MESH:C536830", "NCIT:C168599", "medgen:1645412", "icd11.foundation:1231079185"], "information_content": 100.0}
{"id": "HP:0011973", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal lethargy", "equivalent_identifiers": ["HP:0011973", "UMLS:C1847507"], "information_content": 100.0}
{"id": "HP:0007704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal involuntary eye movements", "equivalent_identifiers": ["HP:0007704", "UMLS:C1847515"], "information_content": 100.0}
{"id": "MONDO:0014696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrooculofacioskeletal syndrome 3", "equivalent_identifiers": ["MONDO:0014696", "DOID:0080913", "OMIM:616570", "UMLS:C1851443", "MESH:C565035", "medgen:342008"], "information_content": 100.0}
{"id": "MONDO:0030490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 11", "equivalent_identifiers": ["MONDO:0030490", "OMIM:619643", "UMLS:C5562033", "medgen:1794243"], "information_content": 100.0}
{"id": "MONDO:0012169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 3", "equivalent_identifiers": ["MONDO:0012169", "DOID:0080860", "OMIM:608996", "UMLS:C1837008", "MESH:C563816", "medgen:373230"], "information_content": 100.0}
{"id": "MONDO:0011718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 2", "equivalent_identifiers": ["MONDO:0011718", "DOID:0110626", "OMIM:606763", "UMLS:C1847554", "MESH:C535277", "medgen:338258"], "information_content": 100.0}
{"id": "MONDO:0012994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency", "equivalent_identifiers": ["MONDO:0012994", "DOID:0111168", "OMIM:612716", "orphanet:70594", "UMLS:C0268468", "UMLS:C5550996", "MESH:C562657", "SNOMEDCT:1187545003", "SNOMEDCT:45116002", "medgen:120642"], "information_content": 100.0}
{"id": "HP:0040210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating biopterin concentration", "equivalent_identifiers": ["HP:0040210", "UMLS:C4073158"], "information_content": 100.0}
{"id": "HP:6000563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced sepiapterin reductase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000563", "UMLS:C5937325"], "information_content": 100.0}
{"id": "HP:0040206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating neopterin concentration", "equivalent_identifiers": ["HP:0040206", "UMLS:C4073154"], "information_content": 100.0}
{"id": "MONDO:0009263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GAPO syndrome", "equivalent_identifiers": ["MONDO:0009263", "DOID:0112249", "OMIM:230740", "orphanet:2067", "UMLS:C0406723", "MESH:C535642", "SNOMEDCT:721843003", "medgen:98034", "icd11.foundation:909165198"], "information_content": 100.0}
{"id": "HP:0001043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent scalp veins", "equivalent_identifiers": ["HP:0001043", "UMLS:C1856542"], "information_content": 100.0}
{"id": "OMIM:616216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "THROMBOCYTOPENIA 5", "equivalent_identifiers": ["OMIM:616216", "UMLS:C4015537", "NCIT:C203436"], "information_content": 100.0}
{"id": "MONDO:0020511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "precursor B-cell acute lymphoblastic leukemia", "equivalent_identifiers": ["MONDO:0020511", "DOID:0080638", "orphanet:99860", "UMLS:C0349636", "NCIT:C8644", "SNOMEDCT:277572006", "medgen:83896", "icd11.foundation:1099674056", "HP:0004812"], "information_content": 70.6}
{"id": "MONDO:0030878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kaya-Barakat-Masson syndrome", "equivalent_identifiers": ["MONDO:0030878", "OMIM:619125", "orphanet:684240", "UMLS:C5436856", "medgen:1725501"], "information_content": 100.0}
{"id": "OMIM:617108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SESSILE SERRATED POLYPOSIS CANCER SYNDROME", "equivalent_identifiers": ["OMIM:617108", "UMLS:C4310714"]}
{"id": "HP:0032222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Serrated intestinal polyps", "equivalent_identifiers": ["HP:0032222", "NCIT:C165469", "UMLS:C4296896", "UMLS:C5139207", "MEDDRA:10085922", "SNOMEDCT:763536006"], "information_content": 88.2}
{"id": "MONDO:0013746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular septal defect 1", "equivalent_identifiers": ["MONDO:0013746", "OMIM:614429", "UMLS:C3280777", "medgen:482407"], "information_content": 100.0}
{"id": "MONDO:0008589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor of intention, ataxia, and lipofuscinosis", "equivalent_identifiers": ["MONDO:0008589", "OMIM:190200", "UMLS:C1860872", "MESH:C566038", "medgen:396002"], "information_content": 100.0}
{"id": "MONDO:0032601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease, immunodeficiency, and encephalopathy", "equivalent_identifiers": ["MONDO:0032601", "OMIM:618213", "orphanet:565788", "EFO:0010258", "UMLS:C4748708", "medgen:1648434"], "information_content": 100.0}
{"id": "MONDO:0014927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 27", "equivalent_identifiers": ["MONDO:0014927", "DOID:0110996", "OMIM:617120", "UMLS:C4310706", "medgen:934673"], "information_content": 100.0}
{"id": "MONDO:0010465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kabuki syndrome 2", "equivalent_identifiers": ["MONDO:0010465", "OMIM:300867", "UMLS:C3275495", "medgen:477126"], "information_content": 100.0}
{"id": "HP:0032315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Areolar fullness", "equivalent_identifiers": ["HP:0032315", "UMLS:C5139269"], "information_content": 100.0}
{"id": "MONDO:0012574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Potocki-Lupski syndrome", "equivalent_identifiers": ["MONDO:0012574", "DOID:0060853", "OMIM:610883", "orphanet:1713", "UMLS:C2931246", "MESH:C538355", "NCIT:C124846", "SNOMEDCT:734016004", "medgen:444010", "icd11.foundation:1720095972"], "information_content": 100.0}
{"id": "MONDO:0010144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tibial hemimelia", "equivalent_identifiers": ["MONDO:0010144", "OMIM:275220", "orphanet:93322", "UMLS:C0265633", "MESH:C535563", "MEDDRA:10079730", "SNOMEDCT:1003515004", "SNOMEDCT:275346000", "SNOMEDCT:79177001", "medgen:120551", "icd11.foundation:1111258427"], "information_content": 92.8}
{"id": "DOID:14515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WAGR syndrome", "equivalent_identifiers": ["DOID:14515", "OMIM:194072", "UMLS:C0206115", "MESH:D017624", "NCIT:C3718", "SNOMEDCT:4135001", "SNOMEDCT:715215007"], "information_content": 92.8}
{"id": "MONDO:0009384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leydig cell hypoplasia, type 1", "equivalent_identifiers": ["MONDO:0009384", "OMIM:238320", "UMLS:C0266432", "UMLS:C2673497", "UMLS:C3668935", "MEDDRA:10024405", "SNOMEDCT:56212008", "medgen:120576"], "information_content": 92.8}
{"id": "MONDO:0014321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 8", "equivalent_identifiers": ["MONDO:0014321", "DOID:0080865", "OMIM:615723", "UMLS:C3810367", "medgen:816697"], "information_content": 100.0}
{"id": "MONDO:0013432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 5", "equivalent_identifiers": ["MONDO:0013432", "DOID:0080516", "OMIM:613805", "UMLS:C3151126", "medgen:462476"], "information_content": 100.0}
{"id": "MONDO:0033532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Suleiman-El-Hattab syndrome", "equivalent_identifiers": ["MONDO:0033532", "OMIM:618950", "UMLS:C5436458", "medgen:1738652"], "information_content": 100.0}
{"id": "MONDO:0006680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blue nevus", "equivalent_identifiers": ["MONDO:0006680", "EFO:1000841", "UMLS:C0206736", "UMLS:C5961146", "MESH:D018329", "MEDDRA:10005882", "MEDDRA:10062788", "NCIT:C3803", "SNOMEDCT:254806009", "SNOMEDCT:63166000", "medgen:104930", "HP:0100814"], "information_content": 84.8}
{"id": "MONDO:0010649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated congenital megalocornea", "equivalent_identifiers": ["MONDO:0010649", "OMIM:309300", "orphanet:91489", "UMLS:C4518341", "SNOMEDCT:734026006", "medgen:1385311"], "information_content": 100.0}
{"id": "HP:0007836", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mosaic corneal dystrophy", "equivalent_identifiers": ["HP:0007836", "UMLS:C4024786"], "information_content": 95.4}
{"id": "HP:0012632", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal intraocular pressure", "equivalent_identifiers": ["HP:0012632", "UMLS:C0520999", "MEDDRA:10022802", "MEDDRA:10022803", "MP:0005257", "SNOMEDCT:24075007"], "information_content": 90.9}
{"id": "MONDO:0008321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pruritus, hereditary localized", "equivalent_identifiers": ["MONDO:0008321", "OMIM:177100", "UMLS:C1867499", "MESH:C566754", "medgen:356792"], "information_content": 100.0}
{"id": "MONDO:0010300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 53", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010300", "DOID:0112047", "OMIM:300324", "UMLS:C1845889", "MESH:C564533", "medgen:335296"], "information_content": 100.0}
{"id": "MONDO:0008135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 13 with retinal and foveal abnormalities", "equivalent_identifiers": ["MONDO:0008135", "OMIM:165510", "UMLS:C1833799", "UMLS:C5435585", "MESH:C563494", "medgen:1768962"], "information_content": 100.0}
{"id": "MONDO:0008846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atransferrinemia", "equivalent_identifiers": ["MONDO:0008846", "DOID:0050649", "OMIM:209300", "orphanet:1195", "UMLS:C0521802", "UMLS:C3277918", "MESH:C538259", "MEDDRA:10083970", "MEDDRA:10083978", "NCIT:C125693", "SNOMEDCT:111571009", "medgen:105489", "HP:0012239"], "information_content": 100.0}
{"id": "MONDO:0009482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 3 with or without anosmia", "equivalent_identifiers": ["MONDO:0009482", "DOID:0090092", "OMIM:244200", "UMLS:C3550478", "medgen:763392"], "information_content": 100.0}
{"id": "MONDO:0957920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 113 with autoimmunity and autoinflammation", "equivalent_identifiers": ["MONDO:0957920", "DOID:0061096", "OMIM:620565", "UMLS:C5882711", "medgen:1851770"], "information_content": 100.0}
{"id": "MONDO:0859358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2H", "equivalent_identifiers": ["MONDO:0859358", "OMIM:620203", "UMLS:C5774296", "medgen:1824069"], "information_content": 100.0}
{"id": "MONDO:0014854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 66", "equivalent_identifiers": ["MONDO:0014854", "DOID:0110587", "OMIM:616969", "UMLS:C4283893", "medgen:924418"], "information_content": 100.0}
{"id": "MONDO:0030069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgE recurrent infection syndrome 5, autosomal recessive", "equivalent_identifiers": ["MONDO:0030069", "OMIM:618944", "UMLS:C5394550", "medgen:1716052"], "information_content": 100.0}
{"id": "HP:0033104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inappropriate absence of fever", "equivalent_identifiers": ["HP:0033104", "UMLS:C5421614"], "information_content": 100.0}
{"id": "HP:0032437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating C-reactive protein concecntration", "equivalent_identifiers": ["HP:0032437", "UMLS:C5139347"], "information_content": 100.0}
{"id": "MONDO:8000008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Martsolf syndrome 1", "equivalent_identifiers": ["MONDO:8000008", "DOID:0111586", "OMIM:212720", "orphanet:1387", "UMLS:C5542298", "MESH:C536028", "SNOMEDCT:722380003", "medgen:1778114"], "information_content": 100.0}
{"id": "HP:0003992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender ulna", "equivalent_identifiers": ["HP:0003992", "UMLS:C1968814"], "information_content": 100.0}
{"id": "HP:0008388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal toenail morphology", "equivalent_identifiers": ["HP:0008388", "UMLS:C3839753", "SNOMEDCT:700189007"], "information_content": 82.1}
{"id": "MONDO:0030537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction", "equivalent_identifiers": ["MONDO:0030537", "OMIM:619482", "UMLS:C5561963", "medgen:1794173"], "information_content": 100.0}
{"id": "HP:0040213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypopnea", "equivalent_identifiers": ["HP:0040213", "UMLS:C0235546", "MEDDRA:10021078", "MEDDRA:10021079", "SNOMEDCT:386614005"], "information_content": 100.0}
{"id": "HP:0012850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small intestinal dysmotility", "equivalent_identifiers": ["HP:0012850", "UMLS:C0345200", "SNOMEDCT:253768006"], "information_content": 92.8}
{"id": "MONDO:0011928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dipygus", "equivalent_identifiers": ["MONDO:0011928", "OMIM:607864", "orphanet:1756", "UMLS:C0266688", "UMLS:C1842884", "MESH:C564315", "SNOMEDCT:71464000", "medgen:335822", "icd11.foundation:1949559803"], "information_content": 100.0}
{"id": "MONDO:0013438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 2D", "equivalent_identifiers": ["MONDO:0013438", "DOID:0060270", "OMIM:613811", "UMLS:C3151140", "SNOMEDCT:1208481000", "medgen:462490"], "information_content": 100.0}
{"id": "HP:0033980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal tonic upgaze", "equivalent_identifiers": ["HP:0033980", "UMLS:C5543481"], "information_content": 100.0}
{"id": "MONDO:0011897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0011897", "DOID:0060794", "OMIM:607694", "UMLS:C2676243", "UMLS:C4706676", "MESH:C567313", "SNOMEDCT:721846006", "SNOMEDCT:764095005", "medgen:1639554"], "information_content": 89.4}
{"id": "MONDO:0014840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 8, autosomal dominant", "equivalent_identifiers": ["MONDO:0014840", "DOID:0081140", "OMIM:616941", "UMLS:C4310786", "medgen:934753"], "information_content": 100.0}
{"id": "HP:0020090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Post-vaccination polio", "equivalent_identifiers": ["HP:0020090", "UMLS:C5139072"], "information_content": 100.0}
{"id": "MONDO:0009512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal Larsen-like syndrome", "equivalent_identifiers": ["MONDO:0009512", "OMIM:245650", "orphanet:2371", "UMLS:C1855535", "UMLS:C4304741", "MESH:C537872", "SNOMEDCT:719409004", "medgen:343375", "icd11.foundation:1014532279"], "information_content": 100.0}
{"id": "HP:0008178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cartilage matrix", "equivalent_identifiers": ["HP:0008178", "UMLS:C4024721"], "information_content": 100.0}
{"id": "MONDO:0013456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "constitutional megaloblastic anemia with severe neurologic disease", "equivalent_identifiers": ["MONDO:0013456", "OMIM:613839", "orphanet:319651", "UMLS:C0268608", "UMLS:C3151205", "MESH:C565095", "SNOMEDCT:124178006", "SNOMEDCT:866092006", "medgen:462555"], "information_content": 100.0}
{"id": "HP:0011149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence seizure with eyelid myoclonia", "equivalent_identifiers": ["HP:0011149", "UMLS:C0393722", "UMLS:C4023513", "SNOMEDCT:230447004"], "information_content": 100.0}
{"id": "MONDO:0014121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures", "equivalent_identifiers": ["MONDO:0014121", "DOID:0070349", "OMIM:615290", "orphanet:363454", "UMLS:C4747715", "NCIT:C191766", "medgen:1669929"], "information_content": 100.0}
{"id": "MONDO:0008837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia, deafness, and cardiomyopathy", "equivalent_identifiers": ["MONDO:0008837", "OMIM:208750", "UMLS:C1859645", "MESH:C565932", "medgen:395312"], "information_content": 100.0}
{"id": "MONDO:0013904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8", "equivalent_identifiers": ["MONDO:0013904", "DOID:0111231", "OMIM:614830", "UMLS:C3553813", "medgen:766727"], "information_content": 100.0}
{"id": "MONDO:0033006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 2, X-linked", "equivalent_identifiers": ["MONDO:0033006", "DOID:0080244", "OMIM:301006", "UMLS:C4538784", "medgen:1625619"], "information_content": 100.0}
{"id": "MONDO:0011112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilms tumor 5", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0011112", "OMIM:601583", "UMLS:C1832099", "MESH:C536707", "medgen:316905"], "information_content": 100.0}
{"id": "MONDO:0010636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kallmann syndrome with spastic paraplegia", "equivalent_identifiers": ["MONDO:0010636", "OMIM:308750", "UMLS:C1839911", "MESH:C536873", "medgen:333437"], "information_content": 100.0}
{"id": "HP:0001341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olfactory lobe agenesis", "equivalent_identifiers": ["HP:0001341", "UMLS:C1855331"], "information_content": 100.0}
{"id": "HP:0003782", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eunuchoid habitus", "equivalent_identifiers": ["HP:0003782", "UMLS:C4025569"], "information_content": 100.0}
{"id": "HP:0002929", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leydig cell insensitivity to gonadotropin", "equivalent_identifiers": ["HP:0002929", "UMLS:C4025668"], "information_content": 100.0}
{"id": "MONDO:0013174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 13", "equivalent_identifiers": ["MONDO:0013174", "DOID:0110618", "OMIM:613193", "UMLS:C2750790", "MESH:C567713", "medgen:413399"], "information_content": 100.0}
{"id": "MONDO:0014117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4B3", "equivalent_identifiers": ["MONDO:0014117", "DOID:0110194", "OMIM:615284", "orphanet:363981", "UMLS:C3695063", "NCIT:C190871", "SNOMEDCT:763345008", "medgen:811329"], "information_content": 100.0}
{"id": "MONDO:0009556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malonic aciduria", "equivalent_identifiers": ["MONDO:0009556", "OMIM:248360", "orphanet:943", "UMLS:C0342793", "MESH:C535702", "SNOMEDCT:124594007", "SNOMEDCT:361203007", "medgen:91001", "icd11.foundation:1373430210"], "information_content": 100.0}
{"id": "HP:6000355", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000355", "UMLS:C5937149"], "information_content": 100.0}
{"id": "MONDO:0060491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with involuntary movements", "equivalent_identifiers": ["MONDO:0060491", "DOID:0112276", "OMIM:617493", "UMLS:C4479569", "medgen:1374697"], "information_content": 100.0}
{"id": "MONDO:0007048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrokeratosis verruciformis", "equivalent_identifiers": ["MONDO:0007048", "DOID:0050606", "OMIM:101900", "orphanet:79151", "EFO:1000666", "UMLS:C0265971", "MEDDRA:10069445", "NCIT:C27519", "SNOMEDCT:400085009", "medgen:75589"], "information_content": 100.0}
{"id": "HP:0012500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Verrucous papule", "equivalent_identifiers": ["HP:0012500", "UMLS:C4022877"], "information_content": 100.0}
{"id": "MONDO:0012326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 42", "equivalent_identifiers": ["MONDO:0012326", "DOID:0110500", "OMIM:609646", "UMLS:C1864818", "MESH:C566460", "medgen:351225"], "information_content": 100.0}
{"id": "MONDO:0024534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dowling-Degos disease 1", "equivalent_identifiers": ["MONDO:0024534", "OMIM:179850", "UMLS:C4552092", "medgen:1645697"], "information_content": 100.0}
{"id": "HP:0007456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive reticulate hyperpigmentation", "equivalent_identifiers": ["HP:0007456", "UMLS:C4024872"], "information_content": 100.0}
{"id": "MONDO:0044321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "structural heart defects and renal anomalies syndrome", "equivalent_identifiers": ["MONDO:0044321", "OMIM:617478", "orphanet:689822", "UMLS:C4479549", "medgen:1387412"], "information_content": 100.0}
{"id": "MONDO:0008168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian fibroma", "equivalent_identifiers": ["MONDO:0008168", "OMIM:166970", "orphanet:314473", "UMLS:C0149951", "MESH:C562391", "MEDDRA:10064257", "NCIT:C3498", "SNOMEDCT:254865006", "medgen:57706", "icd11.foundation:871413134", "HP:0010618"], "information_content": 90.9}
{"id": "MONDO:0007745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gilbert Disease", "equivalent_identifiers": ["MONDO:0007745", "DOID:2739", "OMIM:143500", "EFO:0005556", "UMLS:C0017551", "MESH:D005878", "MEDDRA:10018267", "NCIT:C84729", "SNOMEDCT:27503000", "medgen:4891", "icd11.foundation:1947520963", "ICD10:E80.4"], "information_content": 100.0}
{"id": "MONDO:0013606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 9", "equivalent_identifiers": ["MONDO:0013606", "DOID:0060547", "OMIM:614171", "UMLS:C3280026", "medgen:481656"], "information_content": 100.0}
{"id": "HP:0030402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal platelet aggregation", "equivalent_identifiers": ["HP:0030402", "UMLS:C0541767", "MEDDRA:10001291", "MEDDRA:10001487", "MEDDRA:10035513", "MEDDRA:10035519", "MEDDRA:10061601", "MEDDRA:10062083"], "information_content": 82.1}
{"id": "MONDO:0013826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 86", "equivalent_identifiers": ["MONDO:0013826", "DOID:0110532", "OMIM:614617", "UMLS:C2829265", "medgen:760543"], "information_content": 100.0}
{"id": "MONDO:0859152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction", "equivalent_identifiers": ["MONDO:0859152", "DOID:0070443", "OMIM:619333", "UMLS:C5543427", "medgen:1781936"], "information_content": 100.0}
{"id": "MONDO:0014449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Analbuminemia", "equivalent_identifiers": ["MONDO:0014449", "OMIM:616000", "orphanet:86816", "UMLS:C0878666", "UMLS:C4305253", "NCIT:C124851", "SNOMEDCT:129232009", "SNOMEDCT:718721006", "medgen:930922"], "information_content": 100.0}
{"id": "HP:0032386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating transferrin concentration", "equivalent_identifiers": ["HP:0032386", "UMLS:C5139309"], "information_content": 100.0}
{"id": "MONDO:0010131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone resistance, generalized, autosomal recessive", "equivalent_identifiers": ["MONDO:0010131", "OMIM:274300", "UMLS:C3489796", "MESH:C567936", "MEDDRA:10091074", "NCIT:C85191", "medgen:483749"], "information_content": 100.0}
{"id": "MONDO:0009397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal severe primary hyperparathyroidism", "equivalent_identifiers": ["MONDO:0009397", "OMIM:239200", "orphanet:417", "UMLS:C1832615", "MESH:C563375", "NCIT:C131853", "SNOMEDCT:715218009", "medgen:331326", "icd11.foundation:1929875111"], "information_content": 100.0}
{"id": "MONDO:0013602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paragangliomas 5", "equivalent_identifiers": ["MONDO:0013602", "OMIM:614165", "UMLS:C3279992", "medgen:481622"], "information_content": 100.0}
{"id": "MONDO:0010042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic diplegia and intellectual disability", "equivalent_identifiers": ["MONDO:0010042", "OMIM:270600", "UMLS:C1849139", "MESH:C537481", "medgen:376526"], "information_content": 100.0}
{"id": "MONDO:0033555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", "equivalent_identifiers": ["MONDO:0033555", "DOID:0112062", "OMIM:618987", "UMLS:C5436550", "medgen:1734177"], "information_content": 100.0}
{"id": "MONDO:0030334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalitis, acute, infection (viral)-induced, susceptibility to, 11", "equivalent_identifiers": ["MONDO:0030334", "OMIM:619441", "UMLS:C5561941", "medgen:1794151"], "information_content": 100.0}
{"id": "MONDO:0006009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "viral encephalitis", "equivalent_identifiers": ["MONDO:0006009", "DOID:646", "orphanet:98252", "EFO:0007538", "UMLS:C0243010", "MESH:D018792", "MEDDRA:10014612", "MEDDRA:10014613", "MEDDRA:10047439", "NCIT:C35302", "SNOMEDCT:34476008", "medgen:116719", "HP:0033993"], "information_content": 79.9}
{"id": "MONDO:0010819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stargardt disease 3", "equivalent_identifiers": ["MONDO:0010819", "OMIM:600110", "UMLS:C1838644", "MESH:C535805", "medgen:333146"], "information_content": 100.0}
{"id": "HP:0011507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular flecks", "equivalent_identifiers": ["HP:0011507", "UMLS:C4023322"], "information_content": 100.0}
{"id": "MONDO:0010341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, X-linked 2", "equivalent_identifiers": ["MONDO:0010341", "OMIM:300495", "UMLS:C1845539", "MESH:D038901", "medgen:336964"], "information_content": 100.0}
{"id": "MONDO:0010828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 11", "equivalent_identifiers": ["MONDO:0010828", "DOID:0110408", "OMIM:600138", "UMLS:C1838601", "MESH:C563991", "medgen:325055"], "information_content": 100.0}
{"id": "MONDO:0011778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia, Al-Gazali type", "equivalent_identifiers": ["MONDO:0011778", "OMIM:607131", "orphanet:166024", "UMLS:C1846722", "UMLS:C4304500", "MESH:C564621", "SNOMEDCT:719688002", "medgen:335505", "icd11.foundation:1359939784"], "information_content": 100.0}
{"id": "MONDO:0044330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperekplexia 4", "equivalent_identifiers": ["MONDO:0044330", "DOID:0080581", "OMIM:618011", "UMLS:C4693933", "medgen:1642659"], "information_content": 100.0}
{"id": "MONDO:0010952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hyperferritinemia with congenital cataracts", "equivalent_identifiers": ["MONDO:0010952", "DOID:0111256", "OMIM:600886", "orphanet:163", "UMLS:C1833213", "MESH:C538137", "SNOMEDCT:702398007", "medgen:318812"], "information_content": 100.0}
{"id": "HP:0040135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal transferrin saturation", "equivalent_identifiers": ["HP:0040135", "UMLS:C4022419", "MEDDRA:10079855"], "information_content": 92.8}
{"id": "HP:0012464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased transferrin saturation", "equivalent_identifiers": ["HP:0012464", "UMLS:C0919785", "MEDDRA:10050770"], "information_content": 100.0}
{"id": "MONDO:0011585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive distal spinal muscular atrophy 2", "equivalent_identifiers": ["MONDO:0011585", "DOID:0111065", "OMIM:605726", "orphanet:139552", "UMLS:C1854023", "MESH:C535715", "SNOMEDCT:763533003", "medgen:344189"], "information_content": 100.0}
{"id": "MONDO:0013151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroidal dystrophy, central areolar, 3", "equivalent_identifiers": ["MONDO:0013151", "OMIM:613144", "UMLS:C2751055", "MESH:C567729", "medgen:442631"], "information_content": 100.0}
{"id": "MONDO:0013154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "equivalent_identifiers": ["MONDO:0013154", "DOID:0111240", "OMIM:613150", "UMLS:C3150411", "NCIT:C126742", "medgen:461761"], "information_content": 100.0}
{"id": "MONDO:0015023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MYPN-related myopathy", "equivalent_identifiers": ["MONDO:0015023", "DOID:0110933", "OMIM:617336", "UMLS:C4479186", "medgen:1384302"], "information_content": 100.0}
{"id": "MONDO:0020775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation with defective fucosylation 1", "equivalent_identifiers": ["MONDO:0020775", "OMIM:618005"], "information_content": 100.0}
{"id": "MONDO:0014459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome 5", "equivalent_identifiers": ["MONDO:0014459", "OMIM:616028", "UMLS:C4014970", "medgen:863407"], "information_content": 100.0}
{"id": "MONDO:0001339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "portal vein thrombosis", "equivalent_identifiers": ["MONDO:0001339", "DOID:11695", "UMLS:C0155773", "MEDDRA:10036206", "MEDDRA:10037611", "MEDDRA:10043633", "NCIT:C78565", "SNOMEDCT:17920008", "medgen:56372", "icd11.foundation:866276949", "ICD10:I81", "ICD9:452", "HP:0030242"], "information_content": 100.0}
{"id": "MONDO:0009055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis marmorata telangiectatica congenita", "equivalent_identifiers": ["MONDO:0009055", "OMIM:219250", "orphanet:1556", "UMLS:C0345419", "MESH:C536226", "SNOMEDCT:254778000", "medgen:83381", "icd11.foundation:1359154853", "HP:0025107"], "information_content": 100.0}
{"id": "MONDO:0024532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otofaciocervical syndrome 1", "equivalent_identifiers": ["MONDO:0024532", "OMIM:166780", "UMLS:C3714941", "medgen:811516"], "information_content": 100.0}
{"id": "MONDO:0007551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 1C, localized", "equivalent_identifiers": ["MONDO:0007551", "DOID:0080510", "OMIM:131800", "orphanet:79400", "UMLS:C0080333", "SNOMEDCT:294705005", "medgen:87016"], "information_content": 100.0}
{"id": "MONDO:0007802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypospadias 3, autosomal", "equivalent_identifiers": ["MONDO:0007802", "OMIM:146450", "UMLS:C2675154", "MESH:C567191", "medgen:382538"], "information_content": 100.0}
{"id": "MONDO:0008488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly-radial heart renal anomalies syndrome", "equivalent_identifiers": ["MONDO:0008488", "OMIM:184705", "orphanet:3186", "UMLS:C1866649", "MESH:C566655", "SNOMEDCT:716233007", "medgen:401047"], "information_content": 100.0}
{"id": "MONDO:0044318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "equivalent_identifiers": ["MONDO:0044318", "OMIM:617450", "orphanet:653767", "UMLS:C4479517", "SNOMEDCT:1351655009", "medgen:1385744"], "information_content": 100.0}
{"id": "HP:0025195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central diaphragmatic hernia", "equivalent_identifiers": ["HP:0025195", "UMLS:C4476646"], "information_content": 100.0}
{"id": "MONDO:0032902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 36", "equivalent_identifiers": ["MONDO:0032902", "OMIM:618763", "UMLS:C5231493", "medgen:1684786"], "information_content": 100.0}
{"id": "MONDO:0012925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 5", "equivalent_identifiers": ["MONDO:0012925", "DOID:0111883", "OMIM:612528", "UMLS:C2675859", "MESH:C567280", "NCIT:C176914", "medgen:382705"], "information_content": 100.0}
{"id": "MONDO:0011268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss", "equivalent_identifiers": ["MONDO:0011268", "OMIM:602722", "UMLS:C5399980", "medgen:1732975"], "information_content": 100.0}
{"id": "MONDO:0009364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "equivalent_identifiers": ["MONDO:0009364", "DOID:0111237", "OMIM:236670", "UMLS:C4284790", "NCIT:C128118", "medgen:924974"], "information_content": 100.0}
{"id": "HP:0012793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kinked brainstem", "equivalent_identifiers": ["HP:0012793", "UMLS:C4021068"], "information_content": 100.0}
{"id": "HP:0002438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar malformation", "equivalent_identifiers": ["HP:0002438", "UMLS:C4025708"], "information_content": 86.3}
{"id": "MONDO:0017079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningoencephalocele", "equivalent_identifiers": ["MONDO:0017079", "orphanet:268820", "UMLS:C0009694", "UMLS:C0266456", "MEDDRA:10057562", "NCIT:C124517", "NCIT:C124557", "SNOMEDCT:36010004", "SNOMEDCT:52330001", "medgen:82743", "HP:0006888"], "information_content": 100.0}
{"id": "MONDO:0012062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1O", "equivalent_identifiers": ["MONDO:0012062", "DOID:0110451", "OMIM:608569", "UMLS:C1837839", "MESH:C563906", "medgen:325268"], "information_content": 100.0}
{"id": "MONDO:0012604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 3", "equivalent_identifiers": ["MONDO:0012604", "DOID:0060842", "OMIM:611038", "UMLS:C1970237", "UMLS:C5774181", "MESH:C567025", "medgen:1823955"], "information_content": 100.0}
{"id": "MONDO:0859173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sick sinus syndrome 4", "equivalent_identifiers": ["MONDO:0859173", "OMIM:619464", "UMLS:C5561949", "medgen:1794159"], "information_content": 100.0}
{"id": "HP:0031593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal PR interval", "equivalent_identifiers": ["HP:0031593", "UMLS:C4703431"], "information_content": 92.8}
{"id": "HP:0033992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronotropic incompetence", "equivalent_identifiers": ["HP:0033992", "UMLS:C1997984", "MEDDRA:10068627", "SNOMEDCT:427989008"], "information_content": 100.0}
{"id": "MONDO:0020806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sinoatrial block", "equivalent_identifiers": ["MONDO:0020806", "UMLS:C0037188", "MESH:D012848", "MEDDRA:10019269", "MEDDRA:10019270", "MEDDRA:10039346", "MEDDRA:10040736", "SNOMEDCT:65778007", "medgen:19984", "icd11.foundation:884453307", "HP:0012723"], "information_content": 100.0}
{"id": "HP:0031547", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal QT interval", "equivalent_identifiers": ["HP:0031547", "UMLS:C4531051"], "information_content": 90.9}
{"id": "MONDO:0030259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 15", "equivalent_identifiers": ["MONDO:0030259", "DOID:0112326", "OMIM:619302", "UMLS:C5543326", "medgen:1781311"], "information_content": 100.0}
{"id": "MONDO:0957935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 15", "equivalent_identifiers": ["MONDO:0957935", "OMIM:620583", "UMLS:C5882716", "medgen:1849731"], "information_content": 100.0}
{"id": "MONDO:0015278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial pancreatic carcinoma", "equivalent_identifiers": ["MONDO:0015278", "OMIM:260350", "orphanet:1333", "UMLS:C2931038", "UMLS:C4255450", "UMLS:C5779842", "MESH:C535837", "NCIT:C43298", "SNOMEDCT:715414009", "medgen:419700", "icd11.foundation:1385362916"], "information_content": 100.0}
{"id": "MONDO:0014235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 22q13 duplication syndrome", "equivalent_identifiers": ["MONDO:0014235", "DOID:0060437", "OMIM:615538", "UMLS:C3809844", "medgen:816174"], "information_content": 100.0}
{"id": "MONDO:0014457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia with intellectual disability syndrome 5", "equivalent_identifiers": ["MONDO:0014457", "DOID:0070432", "OMIM:616025", "UMLS:C4014958", "medgen:863395"], "information_content": 100.0}
{"id": "MONDO:0800043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stüve-Wiedemann syndrome 1", "equivalent_identifiers": ["MONDO:0800043", "OMIM:601559", "orphanet:3206", "UMLS:C5676888", "MESH:C537502", "SNOMEDCT:254097005", "medgen:1803541"], "information_content": 100.0}
{"id": "MONDO:0001989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smooth tongue", "equivalent_identifiers": ["MONDO:0001989", "DOID:1453", "UMLS:C0155964", "UMLS:C4280381", "UMLS:C4280382", "UMLS:C4280383", "MEDDRA:10003712", "MEDDRA:10043970", "MEDDRA:10069085", "SNOMEDCT:9491003", "medgen:510156", "ICD10:K14.4", "ICD9:529.4", "HP:0010298"], "information_content": 95.4}
{"id": "HP:0004964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary arterial medial hypertrophy", "equivalent_identifiers": ["HP:0004964", "UMLS:C1504382", "MEDDRA:10063561"], "information_content": 100.0}
{"id": "HP:0004980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal rarefaction", "equivalent_identifiers": ["HP:0004980", "UMLS:C1832146"], "information_content": 100.0}
{"id": "HP:0005089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metaphyseal trabeculation", "equivalent_identifiers": ["HP:0005089", "UMLS:C1857139"], "information_content": 92.8}
{"id": "HP:0034252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent corneal reflex", "equivalent_identifiers": ["HP:0034252", "UMLS:C0278211", "SNOMEDCT:78710008"], "information_content": 100.0}
{"id": "HP:0007610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blotching pigmentation of the skin", "equivalent_identifiers": ["HP:0007610", "UMLS:C4024831"], "information_content": 100.0}
{"id": "MONDO:0033374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 65", "equivalent_identifiers": ["MONDO:0033374", "DOID:0080430", "OMIM:618008", "UMLS:C4693925", "NCIT:C201518", "medgen:1634676"], "information_content": 100.0}
{"id": "MONDO:0010823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic chondrodysplasia punctata type 3", "equivalent_identifiers": ["MONDO:0010823", "DOID:0110853", "OMIM:600121", "orphanet:309803", "UMLS:C1838612", "MESH:C537608", "SNOMEDCT:1003858007", "medgen:374012", "icd11.foundation:110878063"], "information_content": 100.0}
{"id": "HP:6000427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000427", "UMLS:C5937205"], "information_content": 100.0}
{"id": "MONDO:0859176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with motor and speech delay and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859176", "OMIM:619470", "UMLS:C5561954", "medgen:1794164"], "information_content": 100.0}
{"id": "MONDO:0044208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific granule deficiency 2", "equivalent_identifiers": ["MONDO:0044208", "OMIM:617475", "UMLS:C4479548", "medgen:1371952"], "information_content": 100.0}
{"id": "MONDO:0007452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 1", "equivalent_identifiers": ["MONDO:0007452", "DOID:0111099", "OMIM:125850", "UMLS:C1852093", "MESH:C565101", "NCIT:C129744", "SNOMEDCT:609562003", "medgen:377589"], "information_content": 100.0}
{"id": "MONDO:0014215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 27", "equivalent_identifiers": ["MONDO:0014215", "DOID:0110611", "OMIM:615504", "UMLS:C3809701", "medgen:816031"], "information_content": 100.0}
{"id": "MONDO:0011181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosis of extraocular muscles, congenital, 2", "equivalent_identifiers": ["MONDO:0011181", "DOID:0081016", "OMIM:602078", "UMLS:C1865915", "MESH:C566587", "medgen:356119"], "information_content": 100.0}
{"id": "MONDO:0004897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotropia", "equivalent_identifiers": ["MONDO:0004897", "DOID:9841", "UMLS:C0152208", "MEDDRA:10021130", "MEDDRA:10056712", "NCIT:C42086", "SNOMEDCT:29491004", "medgen:101826", "icd11.foundation:1840811827", "ICD9:378.32", "HP:0025584"], "information_content": 92.8}
{"id": "HP:0007936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restrictive external ophthalmoplegia", "equivalent_identifiers": ["HP:0007936", "UMLS:C1865918", "UMLS:C2675435", "UMLS:C4020806"], "information_content": 95.4}
{"id": "MONDO:0012724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome 2", "equivalent_identifiers": ["MONDO:0012724", "DOID:0090063", "OMIM:611762", "orphanet:247868", "UMLS:C2673198", "MESH:C567090", "NCIT:C119043", "SNOMEDCT:783146009", "medgen:435869"], "information_content": 100.0}
{"id": "MONDO:0011997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 2", "equivalent_identifiers": ["MONDO:0011997", "DOID:0060540", "OMIM:608233", "orphanet:183678", "orphanet:664500", "UMLS:C1842362", "MESH:C537709", "NCIT:C150368", "medgen:374912"], "information_content": 100.0}
{"id": "HP:0007384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aberrant melanosome maturation", "equivalent_identifiers": ["HP:0007384", "UMLS:C1969516"], "information_content": 100.0}
{"id": "HP:0033264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged platelet dense granules", "equivalent_identifiers": ["HP:0033264", "UMLS:C5539463"], "information_content": 100.0}
{"id": "MONDO:0009932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary bullae causing pneumothorax", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009932", "OMIM:265200", "UMLS:C1849566", "MESH:C564863", "medgen:337856"], "information_content": 100.0}
{"id": "HP:0006522", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Repeated pneumothoraces", "equivalent_identifiers": ["HP:0006522", "UMLS:C4025027"], "information_content": 100.0}
{"id": "MONDO:0009223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 23 with or without anosmia", "equivalent_identifiers": ["MONDO:0009223", "DOID:0090091", "OMIM:228300", "orphanet:325448", "UMLS:C0271582", "MESH:C537919", "SNOMEDCT:8829008", "medgen:82881", "ICD10:Q56.1"], "information_content": 100.0}
{"id": "HP:0010789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the Leydig cells", "equivalent_identifiers": ["HP:0010789", "UMLS:C4023703"], "information_content": 82.6}
{"id": "HP:0033810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating dihydrotestosterone concentration", "equivalent_identifiers": ["HP:0033810", "UMLS:C5539826"], "information_content": 100.0}
{"id": "MONDO:0012494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular microlithiasis", "equivalent_identifiers": ["MONDO:0012494", "OMIM:610441", "UMLS:C1864873", "MESH:C566478", "MEDDRA:10067829", "SNOMEDCT:117261000119108", "medgen:355854", "HP:0012215"], "information_content": 100.0}
{"id": "HP:0008226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Androgen insufficiency", "equivalent_identifiers": ["HP:0008226", "NCIT:C102987", "UMLS:C0342527", "MEDDRA:10002261", "MEDDRA:10066867", "SNOMEDCT:38825009"], "information_content": 100.0}
{"id": "MONDO:0013164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-ureidopropionase deficiency", "equivalent_identifiers": ["MONDO:0013164", "OMIM:613161", "orphanet:65287", "UMLS:C1291512", "MESH:C563210", "SNOMEDCT:124511000", "medgen:226944", "icd11.foundation:1227425060"], "information_content": 100.0}
{"id": "HP:6000696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration", "equivalent_identifiers": ["HP:6000696", "UMLS:C5937432"], "information_content": 100.0}
{"id": "HP:6000210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF N-carbamyl-beta-alanine concentration", "equivalent_identifiers": ["HP:6000210", "UMLS:C5937041"], "information_content": 100.0}
{"id": "HP:6000534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary ureidopropionic acid level", "equivalent_identifiers": ["HP:6000534", "UMLS:C5937297"], "information_content": 100.0}
{"id": "HP:6000082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic beta-ureidopropionase activity", "equivalent_identifiers": ["HP:6000082", "UMLS:C5936951"], "information_content": 100.0}
{"id": "HP:6000623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary N-carbamyl-beta-aminoisobutyric acid level", "equivalent_identifiers": ["HP:6000623", "UMLS:C5937378"], "information_content": 100.0}
{"id": "HP:6000622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary ureidoisobutyric acid level", "equivalent_identifiers": ["HP:6000622", "UMLS:C5937377"], "information_content": 100.0}
{"id": "HP:6000209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration", "equivalent_identifiers": ["HP:6000209", "UMLS:C5937040"], "information_content": 100.0}
{"id": "HP:0034595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating N-carbamoyl-beta-alanine concentration", "equivalent_identifiers": ["HP:0034595", "UMLS:C5826507"], "information_content": 100.0}
{"id": "MONDO:0014219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alacrima, achalasia, and intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014219", "DOID:0112321", "OMIM:615510", "UMLS:C4706563", "NCIT:C202544", "SNOMEDCT:763741001", "medgen:1640947"], "information_content": 100.0}
{"id": "MONDO:0032899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 8, autosomal dominant", "equivalent_identifiers": ["MONDO:0032899", "DOID:0112135", "OMIM:618752", "orphanet:675767", "UMLS:C5203411", "medgen:1684816"], "information_content": 100.0}
{"id": "HP:0033607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone marrow arrest at the promyelocytic stage", "equivalent_identifiers": ["HP:0033607", "UMLS:C5539718"], "information_content": 100.0}
{"id": "OMIM:609887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glaucoma 1, Open Angle, G", "equivalent_identifiers": ["OMIM:609887", "UMLS:C1835933", "MESH:C563692"]}
{"id": "MONDO:0010344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 45", "equivalent_identifiers": ["MONDO:0010344", "DOID:0112028", "OMIM:300498", "UMLS:C1845333", "MESH:C564503", "medgen:375633"], "information_content": 100.0}
{"id": "MONDO:0030074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia with corneal dystrophy", "equivalent_identifiers": ["MONDO:0030074", "DOID:0112303", "OMIM:618961", "orphanet:589435", "UMLS:C5394555", "SNOMEDCT:1269226006", "medgen:1714019"], "information_content": 100.0}
{"id": "HP:0005787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar platyspondyly", "equivalent_identifiers": ["HP:0005787", "UMLS:C4025136"], "information_content": 100.0}
{"id": "MONDO:0014775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 28", "equivalent_identifiers": ["MONDO:0014775", "DOID:0111470", "OMIM:616794", "orphanet:466784", "UMLS:C5569081", "SNOMEDCT:1187640000", "medgen:1800504"], "information_content": 100.0}
{"id": "MONDO:0011920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 48", "equivalent_identifiers": ["MONDO:0011920", "DOID:0110571", "OMIM:607841", "UMLS:C1842939", "MESH:C564322", "medgen:375052"], "information_content": 100.0}
{"id": "MONDO:0013452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multisystemic smooth muscle dysfunction syndrome", "equivalent_identifiers": ["MONDO:0013452", "OMIM:613834", "orphanet:404463", "UMLS:C3151201", "SNOMEDCT:782724001", "medgen:462551"], "information_content": 100.0}
{"id": "HP:0034324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachiocephalic artery aneurysm", "equivalent_identifiers": ["HP:0034324", "UMLS:C5706170"], "information_content": 100.0}
{"id": "HP:0032398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysgyria", "equivalent_identifiers": ["HP:0032398", "UMLS:C5139317"], "information_content": 92.8}
{"id": "HP:0034325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Common carotid artery aneurysm", "equivalent_identifiers": ["HP:0034325", "UMLS:C0264965", "SNOMEDCT:10878002"], "information_content": 100.0}
{"id": "HP:0100771", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoperistalsis", "equivalent_identifiers": ["HP:0100771", "UMLS:C0232475", "UMLS:C4020700", "SNOMEDCT:77853002"], "information_content": 92.8}
{"id": "HP:0031252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilated left subclavian artery", "equivalent_identifiers": ["HP:0031252", "UMLS:C4531247"], "information_content": 100.0}
{"id": "HP:0007866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal infarction", "equivalent_identifiers": ["HP:0007866", "UMLS:C0281967", "MEDDRA:10051742"], "information_content": 100.0}
{"id": "MONDO:0009595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cartilage-hair hypoplasia", "equivalent_identifiers": ["MONDO:0009595", "DOID:14773", "OMIM:250250", "orphanet:175", "UMLS:C0220748", "MESH:C535916", "MEDDRA:10069596", "NCIT:C61245", "SNOMEDCT:7720002", "medgen:67398", "icd11.foundation:469051294"], "information_content": 95.4}
{"id": "HP:0007464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse facial hair", "equivalent_identifiers": ["HP:0007464", "UMLS:C2017869"], "information_content": 100.0}
{"id": "HP:0005360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Susceptibility to chickenpox", "equivalent_identifiers": ["HP:0005360", "UMLS:C1855205"], "information_content": 100.0}
{"id": "HP:0031087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent pubertal growth spurt", "equivalent_identifiers": ["HP:0031087", "UMLS:C4476965"], "information_content": 100.0}
{"id": "HP:0006589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flaring of lower rib cage", "equivalent_identifiers": ["HP:0006589", "UMLS:C1855196"], "information_content": 100.0}
{"id": "MONDO:0011189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 4", "equivalent_identifiers": ["MONDO:0011189", "DOID:0110073", "OMIM:602087", "UMLS:C1865881", "MESH:C566583", "medgen:356107"], "information_content": 100.0}
{"id": "HP:0003140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-wave inversion in the right precordial leads", "equivalent_identifiers": ["HP:0003140", "UMLS:C4025646"], "information_content": 100.0}
{"id": "HP:0003338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal necrosis of right ventricular muscle cells", "equivalent_identifiers": ["HP:0003338", "UMLS:C4025627"], "information_content": 100.0}
{"id": "MONDO:0957815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with or without epilepsy", "equivalent_identifiers": ["MONDO:0957815", "OMIM:620540", "UMLS:C5882702", "medgen:1848555"], "information_content": 100.0}
{"id": "HP:0012015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with frontal focal spikes", "equivalent_identifiers": ["HP:0012015", "UMLS:C4023076"], "information_content": 100.0}
{"id": "MONDO:0012766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 37", "equivalent_identifiers": ["MONDO:0012766", "DOID:0110788", "OMIM:611945", "orphanet:171612", "UMLS:C2936880", "MESH:C567931", "SNOMEDCT:763369007", "medgen:422458"], "information_content": 100.0}
{"id": "MONDO:0011193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone dystrophy 3", "equivalent_identifiers": ["MONDO:0011193", "DOID:0080314", "OMIM:602093", "UMLS:C1838190", "UMLS:C1865869", "MESH:C566579", "medgen:356104"], "information_content": 100.0}
{"id": "MONDO:0013442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 12", "equivalent_identifiers": ["MONDO:0013442", "DOID:0111119", "OMIM:613820", "UMLS:C3151186", "medgen:462536"], "information_content": 100.0}
{"id": "MONDO:0011686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LIG4 Syndrome", "equivalent_identifiers": ["MONDO:0011686", "DOID:0060021", "OMIM:606593", "orphanet:99812", "UMLS:C1847827", "MESH:C564694", "NCIT:C122657", "SNOMEDCT:724177005", "medgen:339855"], "information_content": 100.0}
{"id": "MONDO:0033548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0033548", "DOID:0081349", "OMIM:618975", "UMLS:C5436530", "medgen:1764743"], "information_content": 100.0}
{"id": "MONDO:0011925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital merosin-deficient muscular dystrophy 1A", "equivalent_identifiers": ["MONDO:0011925", "DOID:0110636", "OMIM:607855", "orphanet:258", "UMLS:C1263858", "UMLS:C1842898", "MESH:C537384", "MESH:C564317", "NCIT:C118783", "SNOMEDCT:111503008", "SNOMEDCT:787037000", "medgen:224728"], "information_content": 100.0}
{"id": "MONDO:0021573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 2", "equivalent_identifiers": ["MONDO:0021573", "OMIM:616780", "UMLS:C4225210", "medgen:903836"], "information_content": 100.0}
{"id": "MONDO:0859369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "joint contractures, osteochondromas, and B-cell lymphoma", "equivalent_identifiers": ["MONDO:0859369", "OMIM:620232", "UMLS:C5774305", "medgen:1824078"], "information_content": 100.0}
{"id": "MONDO:0013435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 15", "equivalent_identifiers": ["MONDO:0013435", "DOID:0110623", "OMIM:613808", "UMLS:C3151137", "NCIT:C155999", "medgen:462487"], "information_content": 100.0}
{"id": "MONDO:0008087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary neuropathy with liability to pressure palsies", "equivalent_identifiers": ["MONDO:0008087", "DOID:0060843", "OMIM:162500", "orphanet:640", "UMLS:C0393814", "MESH:C536965", "MEDDRA:10069382", "MEDDRA:10069820", "SNOMEDCT:230558006", "medgen:98291", "icd11.foundation:2126843932"], "information_content": 100.0}
{"id": "MONDO:0016294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease-type D brachydactyly syndrome", "equivalent_identifiers": ["MONDO:0016294", "OMIM:306980", "orphanet:2150", "UMLS:C1844017", "MESH:C538319", "medgen:375339"], "information_content": 100.0}
{"id": "MONDO:0007222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type D", "equivalent_identifiers": ["MONDO:0007222", "DOID:0110971", "OMIM:113200", "UMLS:C0220664", "MESH:C562420", "SNOMEDCT:890439005", "medgen:66313", "icd11.foundation:642882691", "HP:0005627"], "information_content": 100.0}
{"id": "HP:0011314", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal long bone morphology", "equivalent_identifiers": ["HP:0011314", "UMLS:C4021165"], "information_content": 50.0}
{"id": "MONDO:0013896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 18", "equivalent_identifiers": ["MONDO:0013896", "DOID:0110987", "OMIM:614815", "UMLS:C3553758", "medgen:766672"], "information_content": 100.0}
{"id": "MONDO:0009030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranial nerves, recurrent paresis of", "equivalent_identifiers": ["MONDO:0009030", "OMIM:218200", "UMLS:C1857530", "MESH:C565672", "medgen:387846"], "information_content": 100.0}
{"id": "HP:0007250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent external ophthalmoplegia", "equivalent_identifiers": ["HP:0007250", "UMLS:C4024915"], "information_content": 100.0}
{"id": "MONDO:0100468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Becker disease", "equivalent_identifiers": ["MONDO:0100468", "DOID:0081335", "OMIM:255300", "UMLS:C0027127", "MEDDRA:10028655", "medgen:10158"], "information_content": 100.0}
{"id": "MONDO:0010799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, aminoglycoside-induced", "equivalent_identifiers": ["MONDO:0010799", "DOID:0111734", "OMIM:580000", "UMLS:C1838854", "MESH:C564013", "medgen:374074"], "information_content": 100.0}
{"id": "HP:0011975", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aminoglycoside-induced hearing loss", "equivalent_identifiers": ["HP:0011975", "UMLS:C4023100"], "information_content": 100.0}
{"id": "MONDO:0957921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 6", "equivalent_identifiers": ["MONDO:0957921", "DOID:0060970", "OMIM:620568", "UMLS:C5882712", "medgen:1848930"], "information_content": 100.0}
{"id": "MONDO:0013189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hair-pulling", "equivalent_identifiers": ["MONDO:0013189", "DOID:0050587", "OMIM:613229", "UMLS:C0040953", "MESH:D014256", "MEDDRA:10019046", "MEDDRA:10044629", "MEDDRA:10089585", "NCIT:C94336", "SNOMEDCT:17155009", "medgen:21654", "icd11.foundation:1253999657", "HP:0012167"], "information_content": 100.0}
{"id": "MONDO:0009631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 1", "equivalent_identifiers": ["MONDO:0009631", "DOID:0060840", "OMIM:251600", "UMLS:C1855052", "UMLS:C4551977", "MESH:C565377", "medgen:381546"], "information_content": 100.0}
{"id": "MONDO:0013745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 14", "equivalent_identifiers": ["MONDO:0013745", "DOID:0110983", "OMIM:614424", "UMLS:C3280766", "medgen:482396"], "information_content": 100.0}
{"id": "MONDO:0007847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keloid formation", "equivalent_identifiers": ["MONDO:0007847", "OMIM:148100", "UMLS:C3149494", "medgen:460844"], "information_content": 100.0}
{"id": "MONDO:0012251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEDNIK syndrome", "equivalent_identifiers": ["MONDO:0012251", "DOID:0060483", "OMIM:609313", "orphanet:171851", "UMLS:C1836330", "MESH:C563739", "SNOMEDCT:722035007", "medgen:322893"], "information_content": 100.0}
{"id": "MONDO:0008506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symphalangism of toes", "equivalent_identifiers": ["MONDO:0008506", "OMIM:185600", "UMLS:C1861418", "MESH:C566101", "medgen:396129"], "information_content": 100.0}
{"id": "HP:0100235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synostosis involving bones of the toes", "equivalent_identifiers": ["HP:0100235", "UMLS:C4022186"], "information_content": 76.5}
{"id": "MONDO:0011834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 18", "equivalent_identifiers": ["MONDO:0011834", "DOID:0050969", "OMIM:607458", "orphanet:98771", "UMLS:C1843884", "MESH:C537197", "SNOMEDCT:719250005", "medgen:336066", "icd11.foundation:1564628854"], "information_content": 100.0}
{"id": "MONDO:0032821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, congenital, progressive, with scoliosis", "equivalent_identifiers": ["MONDO:0032821", "DOID:0081351", "OMIM:618578", "EFO:0010565", "UMLS:C5231417", "medgen:1684769"], "information_content": 100.0}
{"id": "MONDO:0013704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 30", "equivalent_identifiers": ["MONDO:0013704", "DOID:0081195", "OMIM:614342", "UMLS:C3280540", "medgen:482170"], "information_content": 100.0}
{"id": "MONDO:0009073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ritscher-Schinzel syndrome 1", "equivalent_identifiers": ["MONDO:0009073", "DOID:0060571", "OMIM:220210", "UMLS:C4551776", "medgen:1634646"], "information_content": 100.0}
{"id": "MONDO:0011400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1G", "equivalent_identifiers": ["MONDO:0011400", "DOID:0110430", "OMIM:604145", "UMLS:C1858763", "MESH:C565824", "NCIT:C182078", "medgen:347714"], "information_content": 100.0}
{"id": "MONDO:0007956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pai syndrome", "equivalent_identifiers": ["MONDO:0007956", "OMIM:155145", "orphanet:1993", "UMLS:C1835087", "MESH:C536135", "SNOMEDCT:722201004", "medgen:371972", "icd11.foundation:1236130516"], "information_content": 100.0}
{"id": "HP:0006866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline central nervous system lipomas", "equivalent_identifiers": ["HP:0006866", "UMLS:C4024973"], "information_content": 90.9}
{"id": "MONDO:0014025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lower motor neuron syndrome with late-adult onset", "equivalent_identifiers": ["MONDO:0014025", "DOID:0081356", "OMIM:615048", "orphanet:276435", "UMLS:C3554398", "medgen:767312", "icd11.foundation:1650555742"], "information_content": 100.0}
{"id": "MONDO:0030507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 61", "equivalent_identifiers": ["MONDO:0030507", "DOID:0112350", "OMIM:619672", "UMLS:C5562048", "medgen:1794258"], "information_content": 100.0}
{"id": "MONDO:0014686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, microcephaly, and endocrine dysfunction", "equivalent_identifiers": ["MONDO:0014686", "OMIM:616541", "UMLS:C4225288", "medgen:895448"], "information_content": 100.0}
{"id": "MONDO:0009293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease V", "equivalent_identifiers": ["MONDO:0009293", "DOID:2746", "OMIM:232600", "orphanet:368", "UMLS:C0017924", "MESH:D006012", "MEDDRA:10018462", "MEDDRA:10026969", "MEDDRA:10026970", "MEDDRA:10045269", "MEDDRA:10053245", "NCIT:C84738", "SNOMEDCT:55912009", "medgen:5341", "ICD10:E74.04"], "information_content": 100.0}
{"id": "HP:6000320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Failure to elevate ammonia on ischemic exercise", "equivalent_identifiers": ["HP:6000320", "UMLS:C5937120"], "information_content": 100.0}
{"id": "HP:6000358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle glycogen phosphorylase activity", "equivalent_identifiers": ["HP:6000358", "UMLS:C5937152"], "information_content": 100.0}
{"id": "HP:6000526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Failure to elevate lactate upon ischemic exercise test", "equivalent_identifiers": ["HP:6000526", "UMLS:C5937289"], "information_content": 100.0}
{"id": "MONDO:0968982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation with episodic fever and immune dysregulation", "equivalent_identifiers": ["MONDO:0968982", "OMIM:620795", "UMLS:C5935613", "medgen:1856440"], "information_content": 100.0}
{"id": "MONDO:0012689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 5", "equivalent_identifiers": ["MONDO:0012689", "DOID:0080862", "OMIM:611548", "UMLS:C1969060", "MESH:C566921", "medgen:409743"], "information_content": 100.0}
{"id": "MONDO:0014542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 15", "equivalent_identifiers": ["MONDO:0014542", "DOID:0110658", "OMIM:616227", "UMLS:C4015596", "medgen:864033"], "information_content": 100.0}
{"id": "MONDO:0009355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hooft disease", "equivalent_identifiers": ["MONDO:0009355", "OMIM:236300", "UMLS:C0268479", "MESH:C535329", "SNOMEDCT:32123005", "medgen:75686"], "information_content": 100.0}
{"id": "MONDO:0013747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrioventricular septal defect 4", "equivalent_identifiers": ["MONDO:0013747", "OMIM:614430", "UMLS:C3280781", "medgen:482411"], "information_content": 100.0}
{"id": "MONDO:0014920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patterned macular dystrophy 3", "equivalent_identifiers": ["MONDO:0014920", "DOID:0060865", "OMIM:617111", "orphanet:466718", "UMLS:C4310713", "SNOMEDCT:1187639002", "medgen:934680"], "information_content": 100.0}
{"id": "MONDO:0032606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 2", "equivalent_identifiers": ["MONDO:0032606", "DOID:0112083", "OMIM:618222", "UMLS:C4748737", "medgen:1648466"], "information_content": 100.0}
{"id": "MONDO:0012694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 7", "equivalent_identifiers": ["MONDO:0012694", "DOID:0111002", "OMIM:611560", "UMLS:C1969053", "MESH:C566916", "NCIT:C159653", "medgen:369401"], "information_content": 100.0}
{"id": "MONDO:0014312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auriculocondylar syndrome 3", "equivalent_identifiers": ["MONDO:0014312", "OMIM:615706", "UMLS:C3810332", "medgen:816662"], "information_content": 100.0}
{"id": "MONDO:0012790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 10", "equivalent_identifiers": ["MONDO:0012790", "DOID:0060201", "OMIM:612069", "UMLS:C2677565", "UMLS:C3148872", "UMLS:C3150169", "UMLS:C3150171", "MESH:C567429", "NCIT:C168752", "SNOMEDCT:1208412003", "medgen:383137"], "information_content": 100.0}
{"id": "MONDO:0024566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile seizures, familial, 11", "equivalent_identifiers": ["MONDO:0024566", "DOID:0111308", "OMIM:614418", "UMLS:C3280734", "medgen:482364"], "information_content": 100.0}
{"id": "MONDO:0013259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oguchi disease-2", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013259", "DOID:0110713", "OMIM:613411", "UMLS:C3150678", "medgen:462028"], "information_content": 100.0}
{"id": "MONDO:0010976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive", "equivalent_identifiers": ["MONDO:0010976", "OMIM:601001", "orphanet:89838", "UMLS:C1832926", "UMLS:C3715082", "MESH:C563408", "SNOMEDCT:1156849001", "medgen:811576"], "information_content": 100.0}
{"id": "MONDO:0007375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelial basement membrane dystrophy", "equivalent_identifiers": ["MONDO:0007375", "DOID:0060447", "OMIM:121820", "orphanet:98956", "UMLS:C0271285", "UMLS:C0521723", "MESH:C535477", "MEDDRA:10064871", "MEDDRA:10079542", "SNOMEDCT:32935005", "SNOMEDCT:373426005", "medgen:99275", "HP:0007690"], "information_content": 100.0}
{"id": "MONDO:0018945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "McLeod syndrome", "equivalent_identifiers": ["MONDO:0018945", "DOID:0112107", "OMIM:300842", "orphanet:59306", "UMLS:C0398568", "UMLS:C0878670", "MESH:C564038", "SNOMEDCT:115845005", "SNOMEDCT:234411007", "medgen:140765", "icd11.foundation:1749275115"], "information_content": 100.0}
{"id": "MONDO:0002028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "personality disorder", "equivalent_identifiers": ["MONDO:0002028", "DOID:1510", "UMLS:C0029707", "UMLS:C0031212", "MESH:D010554", "MEDDRA:10013256", "MEDDRA:10034721", "MEDDRA:10034722", "MEDDRA:10046097", "NCIT:C34922", "SNOMEDCT:33449004", "medgen:45827", "icd11.foundation:941859884", "ICD10:F60", "ICD9:301.8", "HP:0012075"], "information_content": 83.6}
{"id": "MONDO:0033260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 73", "equivalent_identifiers": ["MONDO:0033260", "DOID:0080269", "OMIM:617663", "UMLS:C4540024", "medgen:1627153"], "information_content": 100.0}
{"id": "MONDO:0032810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 7", "equivalent_identifiers": ["MONDO:0032810", "OMIM:618550", "UMLS:C5231407", "medgen:1684736"], "information_content": 100.0}
{"id": "HP:0032571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased oocyte death", "equivalent_identifiers": ["HP:0032571", "UMLS:C5397598"], "information_content": 100.0}
{"id": "MONDO:0008391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Robinow-Sorauf syndrome", "equivalent_identifiers": ["MONDO:0008391", "OMIM:180750", "UMLS:C1867146", "MESH:C537183", "medgen:356703", "icd11.foundation:1272297510"], "information_content": 100.0}
{"id": "HP:0010084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of the distal phalanx of the hallux", "equivalent_identifiers": ["HP:0010084", "UMLS:C4021339"], "information_content": 92.8}
{"id": "MONDO:0008262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poland syndrome", "equivalent_identifiers": ["MONDO:0008262", "DOID:12961", "OMIM:173800", "orphanet:2911", "UMLS:C0032357", "UMLS:C1868156", "MESH:C566793", "MESH:D011045", "MEDDRA:10036006", "MEDDRA:10036007", "MEDDRA:10042835", "NCIT:C85017", "SNOMEDCT:38371006", "medgen:10822", "icd11.foundation:1364451323", "ICD10:Q79.8"], "information_content": 100.0}
{"id": "HP:0005256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral absence of pectoralis major muscle", "equivalent_identifiers": ["HP:0005256", "UMLS:C4021639"], "information_content": 100.0}
{"id": "HP:0011959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral hypoplasia of pectoralis major muscle", "equivalent_identifiers": ["HP:0011959", "UMLS:C4023107"], "information_content": 100.0}
{"id": "HP:0009011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of serratus anterior muscle", "equivalent_identifiers": ["HP:0009011", "UMLS:C1868167"], "information_content": 100.0}
{"id": "HP:0006230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral oligodactyly", "equivalent_identifiers": ["HP:0006230", "UMLS:C3805861"], "information_content": 100.0}
{"id": "HP:0009026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of latissimus dorsi muscle", "equivalent_identifiers": ["HP:0009026", "UMLS:C3805860"], "information_content": 100.0}
{"id": "HP:0006008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral brachydactyly", "equivalent_identifiers": ["HP:0006008", "UMLS:C1868164", "UMLS:C4280467"], "information_content": 100.0}
{"id": "MONDO:0009548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypomagnesemia 5 with ocular involvement", "equivalent_identifiers": ["MONDO:0009548", "DOID:0060881", "OMIM:248190", "orphanet:2196", "UMLS:C1855466", "UMLS:C2931121", "UMLS:C4721891", "MESH:C536148", "MESH:C565423", "SNOMEDCT:717787005", "medgen:1648449"], "information_content": 100.0}
{"id": "HP:0012608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermagnesiuria", "equivalent_identifiers": ["HP:0012608", "UMLS:C2673443"], "information_content": 95.4}
{"id": "HP:0012637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal calcium wasting", "equivalent_identifiers": ["HP:0012637", "UMLS:C2673441"], "information_content": 100.0}
{"id": "MONDO:0014034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GAND syndrome", "equivalent_identifiers": ["MONDO:0014034", "DOID:0070048", "OMIM:615074", "orphanet:363686", "UMLS:C3554448", "NCIT:C202606", "medgen:767362"], "information_content": 100.0}
{"id": "HP:0006406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Club-shaped proximal femur", "equivalent_identifiers": ["HP:0006406", "UMLS:C1968611"], "information_content": 100.0}
{"id": "HP:0011860", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal dappling", "equivalent_identifiers": ["HP:0011860", "UMLS:C4020907"], "information_content": 100.0}
{"id": "MONDO:0014916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 41", "equivalent_identifiers": ["MONDO:0014916", "DOID:0080442", "OMIM:617105", "UMLS:C4310717", "medgen:934684"], "information_content": 100.0}
{"id": "MONDO:0032619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 14", "equivalent_identifiers": ["MONDO:0032619", "DOID:0112094", "OMIM:618236", "UMLS:C4748777", "medgen:1648440"], "information_content": 100.0}
{"id": "MONDO:0011170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2G", "equivalent_identifiers": ["MONDO:0011170", "DOID:0110281", "OMIM:601954", "orphanet:34514", "UMLS:C1866008", "MESH:C566599", "SNOMEDCT:720522001", "medgen:400895"], "information_content": 100.0}
{"id": "MONDO:0008337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial pterygium of the conjunctiva", "equivalent_identifiers": ["MONDO:0008337", "OMIM:178000", "orphanet:2989", "UMLS:C4274782", "MESH:C566740", "SNOMEDCT:716197003", "medgen:896736"], "information_content": 100.0}
{"id": "MONDO:0013247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi renotubular syndrome 2", "equivalent_identifiers": ["MONDO:0013247", "DOID:0080758", "OMIM:613388", "UMLS:C3150652", "medgen:462002"], "information_content": 100.0}
{"id": "MONDO:0009816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 2", "equivalent_identifiers": ["MONDO:0009816", "DOID:0110943", "OMIM:259710", "UMLS:C1850126", "MESH:C536059", "medgen:342420"], "information_content": 100.0}
{"id": "HP:0007626", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mandibular osteomyelitis", "equivalent_identifiers": ["HP:0007626", "UMLS:C1290708", "SNOMEDCT:109695005"], "information_content": 100.0}
{"id": "MONDO:0001835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial Paresis", "equivalent_identifiers": ["MONDO:0001835", "DOID:13934", "UMLS:C0015469", "UMLS:C0427055", "MESH:D005158", "MEDDRA:10016044", "MEDDRA:10016060", "MEDDRA:10016062", "MEDDRA:10033808", "MEDDRA:10051267", "MEDDRA:10051271", "MEDDRA:10051272", "MEDDRA:10082051", "NCIT:C78290", "SNOMEDCT:280816001", "SNOMEDCT:95666008", "medgen:5101", "HP:0007209"], "information_content": 89.4}
{"id": "HP:0004499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic rhinitis due to narrow nasal airway", "equivalent_identifiers": ["HP:0004499", "UMLS:C4025318"], "information_content": 100.0}
{"id": "MONDO:0007606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrodysplasia ossificans progressiva", "equivalent_identifiers": ["MONDO:0007606", "DOID:13374", "OMIM:135100", "orphanet:337", "UMLS:C0016037", "MEDDRA:10036809", "MEDDRA:10068715", "NCIT:C3040", "SNOMEDCT:82725007", "medgen:4698", "icd11.foundation:2102976705", "ICD10:M61.1", "ICD9:728.11"], "information_content": 92.8}
{"id": "HP:6000952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed toe phalanx ossification", "equivalent_identifiers": ["HP:6000952", "UMLS:C5970298"], "information_content": 100.0}
{"id": "HP:0010054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the first metatarsal bone", "equivalent_identifiers": ["HP:0010054", "UMLS:C4024082"], "information_content": 77.8}
{"id": "HP:0011988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic ossification in tendon tissue", "equivalent_identifiers": ["HP:0011988", "UMLS:C4023095"], "information_content": 100.0}
{"id": "HP:0004629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small cervical vertebral bodies", "equivalent_identifiers": ["HP:0004629", "UMLS:C1851130"], "information_content": 100.0}
{"id": "HP:0008449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive cervical vertebral spine fusion", "equivalent_identifiers": ["HP:0008449", "UMLS:C1851129"], "information_content": 100.0}
{"id": "MONDO:0060456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral sclerosis, diffuse, scholz type", "equivalent_identifiers": ["MONDO:0060456", "OMIM:302700", "UMLS:C1844884", "MESH:C564449", "medgen:335049"], "information_content": 100.0}
{"id": "MONDO:0012797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 8", "equivalent_identifiers": ["MONDO:0012797", "DOID:0060926", "OMIM:612096", "UMLS:C2677515", "MESH:C567421", "medgen:436965"], "information_content": 100.0}
{"id": "MONDO:0013722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0013722", "DOID:0060797", "OMIM:614381", "orphanet:85186", "UMLS:C3280644", "MESH:C535353", "NCIT:C180850", "medgen:482274"], "information_content": 100.0}
{"id": "OMIM:146850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNE SUPPRESSION", "equivalent_identifiers": ["OMIM:146850", "UMLS:C1840264"]}
{"id": "MONDO:0007544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilia, familial", "equivalent_identifiers": ["MONDO:0007544", "OMIM:131400", "UMLS:C0272192", "MESH:C562722", "SNOMEDCT:191358004", "SNOMEDCT:79336007", "medgen:78796"], "information_content": 100.0}
{"id": "HP:0031323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myocardial eosinophilic infiltration", "equivalent_identifiers": ["HP:0031323", "UMLS:C4531200"], "information_content": 100.0}
{"id": "MONDO:0859283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities", "equivalent_identifiers": ["MONDO:0859283", "OMIM:620024", "UMLS:C5774209", "medgen:1823982"], "information_content": 100.0}
{"id": "MONDO:0020351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blake pouch cyst", "equivalent_identifiers": ["MONDO:0020351", "orphanet:98922", "UMLS:C3662124", "MEDDRA:10090502", "SNOMEDCT:609529006", "medgen:783279", "HP:0033140"], "information_content": 100.0}
{"id": "MONDO:0012162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patterned macular dystrophy 2", "equivalent_identifiers": ["MONDO:0012162", "DOID:0060864", "OMIM:608970", "UMLS:C1837029", "medgen:332348"], "information_content": 100.0}
{"id": "HP:0007963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pattern dystrophy of the retina", "equivalent_identifiers": ["HP:0007963", "UMLS:C4024762"], "information_content": 95.4}
{"id": "MONDO:0011725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crigler-Najjar syndrome type 2", "equivalent_identifiers": ["MONDO:0011725", "OMIM:606785", "orphanet:79235", "UMLS:C2931132", "MESH:C536213", "MEDDRA:10011387", "SNOMEDCT:68067009", "medgen:419718", "icd11.foundation:846453488"], "information_content": 100.0}
{"id": "HP:6000617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue UDP-glucuronyl-transferase activity", "equivalent_identifiers": ["HP:6000617", "UMLS:C5937372"], "information_content": 100.0}
{"id": "MONDO:0859247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurocardiofaciodigital syndrome", "equivalent_identifiers": ["MONDO:0859247", "OMIM:619869", "UMLS:C5677020", "medgen:1804193"], "information_content": 100.0}
{"id": "MONDO:0042490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 1, autosomal dominant", "equivalent_identifiers": ["MONDO:0042490", "DOID:0080625", "OMIM:202700", "UMLS:C1859966", "MESH:C565969", "NCIT:C176827", "medgen:348506"], "information_content": 100.0}
{"id": "MONDO:0018542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe congenital neutropenia", "equivalent_identifiers": ["MONDO:0018542", "DOID:0050590", "OMIM.PS:202700", "orphanet:42738", "UMLS:C0340970", "UMLS:C1853118", "UMLS:C4551555", "MEDDRA:10052210", "MEDDRA:10052213", "MEDDRA:10069819", "NCIT:C166152", "SNOMEDCT:89655007", "medgen:343974", "ICD10:D70", "HP:0005541"], "information_content": 81.3}
{"id": "MONDO:0007896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute monocytic leukemia", "equivalent_identifiers": ["MONDO:0007896", "DOID:8864", "OMIM:151380", "orphanet:514", "EFO:0000221", "UMLS:C0023465", "UMLS:C0457334", "UMLS:C1318544", "MESH:D007948", "MEDDRA:10000870", "MEDDRA:10000871", "MEDDRA:10000873", "MEDDRA:10024342", "MEDDRA:10027890", "MEDDRA:10027895", "MEDDRA:10059439", "MEDDRA:10060392", "NCIT:C4861", "NCIT:C7171", "SNOMEDCT:22331004", "SNOMEDCT:278170009", "SNOMEDCT:413441006", "medgen:7319", "icd11.foundation:517546180", "ICD9:206.0", "HP:0004845"], "information_content": 86.3}
{"id": "MONDO:0014406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic agenesis 2", "equivalent_identifiers": ["MONDO:0014406", "DOID:0060988", "OMIM:615935", "UMLS:C4014737", "medgen:863174"], "information_content": 100.0}
{"id": "MONDO:0008788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IRIDA syndrome", "equivalent_identifiers": ["MONDO:0008788", "OMIM:206200", "orphanet:209981", "MESH:C562385", "SNOMEDCT:722005000", "medgen:39081"], "information_content": 100.0}
{"id": "MONDO:0859239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chilton-Okur-Chung neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859239", "OMIM:619841", "UMLS:C5677022", "medgen:1803276"], "information_content": 100.0}
{"id": "MONDO:0008428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "septooptic dysplasia", "equivalent_identifiers": ["MONDO:0008428", "DOID:0060857", "OMIM:182230", "orphanet:3157", "UMLS:C0338503", "UMLS:C2750027", "MESH:C567632", "MESH:D025962", "MEDDRA:10053146", "MEDDRA:10067159", "NCIT:C85063", "SNOMEDCT:7611002", "medgen:90926", "HP:0100842"], "information_content": 92.8}
{"id": "HP:0006485", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of incisor", "equivalent_identifiers": ["HP:0006485", "UMLS:C4020815", "UMLS:C4020816", "UMLS:C4083290"], "information_content": 81.3}
{"id": "MONDO:0032823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder 60 with seizures", "equivalent_identifiers": ["MONDO:0032823", "DOID:0061050", "OMIM:618587", "EFO:0010566", "UMLS:C5231497", "medgen:1684702"], "information_content": 100.0}
{"id": "MONDO:0014633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy with myoclonic atonic seizures", "equivalent_identifiers": ["MONDO:0014633", "DOID:0060475", "OMIM:616421", "orphanet:1942", "UMLS:C0393702", "MEDDRA:10081179", "MEDDRA:10081181", "MEDDRA:10081183", "NCIT:C165674", "SNOMEDCT:230421008", "medgen:98284", "icd11.foundation:951920505", "HP:0011170"], "information_content": 95.4}
{"id": "MONDO:0859220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ferguson-Bonni neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859220", "OMIM:619699", "UMLS:C5562065", "medgen:1794275"], "information_content": 100.0}
{"id": "HP:0025516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coronary-pulmonary artery fistula", "equivalent_identifiers": ["HP:0025516", "UMLS:C4476821"], "information_content": 100.0}
{"id": "MONDO:0010477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis - intellectual disability syndrome, MKB type", "equivalent_identifiers": ["MONDO:0010477", "OMIM:300895", "orphanet:293707", "UMLS:C3698541", "SNOMEDCT:699297004", "medgen:785805"], "information_content": 100.0}
{"id": "MONDO:0008423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sinus node disease and myopia", "equivalent_identifiers": ["MONDO:0008423", "OMIM:182190", "UMLS:C1866960", "MESH:C566690", "medgen:401121"], "information_content": 100.0}
{"id": "HP:0011702", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal electrophysiology of sinoatrial node origin", "equivalent_identifiers": ["HP:0011702", "UMLS:C4023222"], "information_content": 88.2}
{"id": "MONDO:0013033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral palsy, spastic quadriplegic, 2", "inheritance": "Autosomal dominant inheritance with maternal imprinting", "equivalent_identifiers": ["MONDO:0013033", "DOID:0081360", "OMIM:612900", "UMLS:C2752061", "MESH:C567867", "medgen:442880"], "information_content": 100.0}
{"id": "MONDO:0010559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MASA syndrome", "equivalent_identifiers": ["MONDO:0010559", "DOID:0060246", "OMIM:303350", "orphanet:2466", "UMLS:C0795953", "MESH:C536029", "NCIT:C129930", "SNOMEDCT:716996008", "SNOMEDCT:838441009", "medgen:162894", "icd11.foundation:1973644723"], "information_content": 100.0}
{"id": "MONDO:0100213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IFAP syndrome 1, with or without BRESHECK syndrome", "equivalent_identifiers": ["MONDO:0100213", "DOID:0111821", "OMIM:308205", "UMLS:C5399971", "MESH:C536085", "medgen:1746744"], "information_content": 100.0}
{"id": "HP:0005254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral chest hypoplasia", "equivalent_identifiers": ["HP:0005254", "UMLS:C1845576"], "information_content": 100.0}
{"id": "HP:0033425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periungual erythema", "equivalent_identifiers": ["HP:0033425", "UMLS:C1963964", "MEDDRA:10067749"], "information_content": 100.0}
{"id": "HP:0031291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ichthyosis follicularis", "equivalent_identifiers": ["HP:0031291", "UMLS:C4531223"], "information_content": 100.0}
{"id": "MONDO:0030839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone metabolism, abnormal, 2", "equivalent_identifiers": ["MONDO:0030839", "OMIM:619855", "UMLS:C5676976", "medgen:1812066"], "information_content": 100.0}
{"id": "HP:0034289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating rT3/T3 ratio", "equivalent_identifiers": ["HP:0034289", "UMLS:C5706145"], "information_content": 100.0}
{"id": "MONDO:0010393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 93", "equivalent_identifiers": ["MONDO:0010393", "DOID:0112045", "OMIM:300659", "UMLS:C1970841", "MESH:C567066", "medgen:410164"], "information_content": 100.0}
{"id": "MONDO:0007524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Ehlers-Danlos syndrome, vascular type", "equivalent_identifiers": ["MONDO:0007524", "DOID:14756", "OMIM:130050", "UMLS:C0268339", "medgen:541286"], "information_content": 100.0}
{"id": "HP:0005267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature delivery because of cervical insufficiency or membrane fragility", "equivalent_identifiers": ["HP:0005267", "UMLS:C1851808"], "information_content": 100.0}
{"id": "HP:0031157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carotid cavernous fistula", "equivalent_identifiers": ["HP:0031157", "UMLS:C0238045", "MEDDRA:10060767", "SNOMEDCT:302213007", "MESH:D020216"], "information_content": 100.0}
{"id": "HP:0032447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary bleb", "equivalent_identifiers": ["HP:0032447", "UMLS:C1857434", "MEDDRA:10078247"], "information_content": 100.0}
{"id": "HP:0025395", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Combined cystic and ground-glass pattern on pulmonary HRCT", "equivalent_identifiers": ["HP:0025395", "UMLS:C4476753"], "information_content": 100.0}
{"id": "MONDO:0005698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical incompetence", "equivalent_identifiers": ["MONDO:0005698", "DOID:9681", "EFO:0007202", "UMLS:C0007871", "MESH:D002581", "MEDDRA:10008267", "MEDDRA:10021631", "MEDDRA:10021632", "NCIT:C50607", "SNOMEDCT:17382005", "medgen:2972", "ICD10:N88.3", "ICD9:622.5", "HP:0030009"], "information_content": 100.0}
{"id": "HP:0100718", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uterine rupture", "equivalent_identifiers": ["HP:0100718", "NCIT:C128716", "UMLS:C0042143", "MEDDRA:10039327", "MEDDRA:10039335", "MEDDRA:10046820", "MEDDRA:10046845", "MEDDRA:10046846", "SNOMEDCT:34430009", "MESH:D014597"], "information_content": 100.0}
{"id": "HP:0006201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermobility of distal interphalangeal joints", "equivalent_identifiers": ["HP:0006201", "UMLS:C1851811"], "information_content": 100.0}
{"id": "MONDO:0008682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Denys-Drash syndrome", "equivalent_identifiers": ["MONDO:0008682", "DOID:3764", "OMIM:194080", "orphanet:220", "UMLS:C0950121", "MESH:D030321", "MEDDRA:10070179", "NCIT:C84668", "SNOMEDCT:236385009", "medgen:181980", "icd11.foundation:904981302"], "information_content": 90.9}
{"id": "HP:0003248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gonadal tissue inappropriate for external genitalia or chromosomal sex", "equivalent_identifiers": ["HP:0003248", "UMLS:C1860268"], "information_content": 100.0}
{"id": "HP:0025193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterolateral diaphragmatic hernia", "equivalent_identifiers": ["HP:0025193", "UMLS:C0265700", "MEDDRA:10078434", "SNOMEDCT:447821002"], "information_content": 100.0}
{"id": "MONDO:0002697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian gonadoblastoma", "equivalent_identifiers": ["MONDO:0002697", "DOID:3578", "OMIM:424500", "orphanet:206484", "EFO:1000420", "UMLS:C1518716", "MEDDRA:10081854", "NCIT:C39985", "SNOMEDCT:716594002", "medgen:309510", "icd11.foundation:1564602847", "HP:0000149"], "information_content": 100.0}
{"id": "MONDO:0014394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 13", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0014394", "DOID:0111889", "OMIM:615909", "UMLS:C4014641", "medgen:863078"], "information_content": 100.0}
{"id": "MONDO:0011488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 3, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0011488", "DOID:0070286", "OMIM:604804", "UMLS:C1858108", "MESH:C565746", "medgen:347619"], "information_content": 100.0}
{"id": "MONDO:0014390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 13", "equivalent_identifiers": ["MONDO:0014390", "DOID:0110710", "OMIM:615896", "UMLS:C4014616", "medgen:863053"], "information_content": 100.0}
{"id": "MONDO:0007568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 4", "equivalent_identifiers": ["MONDO:0007568", "OMIM:132900", "UMLS:C1851504", "MESH:C537784", "medgen:338704"], "information_content": 100.0}
{"id": "HP:0012495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior cerebral artery stenosis", "equivalent_identifiers": ["HP:0012495", "UMLS:C1504569", "MEDDRA:10063760"], "information_content": 100.0}
{"id": "HP:0012493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Middle cerebral artery stenosis", "equivalent_identifiers": ["HP:0012493", "UMLS:C1504568", "MEDDRA:10063759", "SNOMEDCT:21290001000004104"], "information_content": 100.0}
{"id": "HP:0012494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior cerebral artery stenosis", "equivalent_identifiers": ["HP:0012494", "UMLS:C1504567", "MEDDRA:10063758"], "information_content": 100.0}
{"id": "MONDO:0008141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ossicular malformations, familial", "equivalent_identifiers": ["MONDO:0008141", "OMIM:165680", "UMLS:C1833790", "MESH:C537142", "medgen:371652"], "information_content": 100.0}
{"id": "MONDO:0033641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate, proliferative retinopathy, and developmental delay", "equivalent_identifiers": ["MONDO:0033641", "OMIM:619074", "UMLS:C5436739", "medgen:1765503"], "information_content": 100.0}
{"id": "MONDO:8000006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WHIM syndrome 1", "equivalent_identifiers": ["MONDO:8000006", "DOID:0060591", "OMIM:193670", "orphanet:51636", "UMLS:C5542296", "MESH:C536697", "SNOMEDCT:234571003", "medgen:1778124"], "information_content": 100.0}
{"id": "MONDO:0003225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone marrow disorder", "equivalent_identifiers": ["MONDO:0003225", "DOID:4961", "UMLS:C0005956", "UMLS:C4021634", "MESH:D001855", "MEDDRA:10050910", "MEDDRA:10061729", "NCIT:C34433", "SNOMEDCT:127035006", "medgen:892905", "HP:0005561"], "information_content": 55.6}
{"id": "HP:0000008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of female internal genitalia", "equivalent_identifiers": ["HP:0000008", "UMLS:C4025900"], "information_content": 60.6}
{"id": "MONDO:0007827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myositis", "equivalent_identifiers": ["MONDO:0007827", "DOID:3429", "OMIM:147421", "orphanet:611", "EFO:0007323", "UMLS:C0238190", "MESH:D018979", "MEDDRA:10066407", "NCIT:C84786", "SNOMEDCT:72315009", "medgen:68659", "ICD10:G72.41", "ICD9:359.71"], "information_content": 89.4}
{"id": "MONDO:0859578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lacrimoauriculodentodigital syndrome 3", "equivalent_identifiers": ["MONDO:0859578", "DOID:0081372", "OMIM:620193", "UMLS:C5774287", "medgen:1824060"], "information_content": 100.0}
{"id": "MONDO:0030531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 65", "equivalent_identifiers": ["MONDO:0030531", "DOID:0112354", "OMIM:619712", "UMLS:C5562067", "medgen:1794277"], "information_content": 100.0}
{"id": "HP:0012867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sperm mid-piece morphology", "equivalent_identifiers": ["HP:0012867", "UMLS:C4022700"], "information_content": 90.9}
{"id": "MONDO:0013306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 7", "equivalent_identifiers": ["MONDO:0013306", "DOID:0111487", "OMIM:613559", "orphanet:254930", "UMLS:C3150801", "SNOMEDCT:763204003", "medgen:462151"], "information_content": 100.0}
{"id": "MONDO:0011224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monomelic amyotrophy", "equivalent_identifiers": ["MONDO:0011224", "OMIM:602440", "orphanet:65684", "EFO:1001989", "UMLS:C1865384", "MESH:C538253", "MEDDRA:10069681", "medgen:356265", "icd11.foundation:2090347823"], "information_content": 95.4}
{"id": "HP:0031372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cold paresis", "equivalent_identifiers": ["HP:0031372", "UMLS:C4531172"], "information_content": 100.0}
{"id": "MONDO:0012981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 4", "equivalent_identifiers": ["MONDO:0012981", "DOID:0110919", "OMIM:612653", "UMLS:C2675212", "MESH:C567208", "medgen:436375"], "information_content": 100.0}
{"id": "MONDO:0013638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome 3", "equivalent_identifiers": ["MONDO:0013638", "DOID:0110718", "OMIM:614222", "UMLS:C3280203", "medgen:481833"], "information_content": 100.0}
{"id": "MONDO:0010852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 8Q12.1-q21.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0010852", "OMIM:600257", "UMLS:C1838346", "MESH:C536574", "medgen:333071"], "information_content": 100.0}
{"id": "HP:0034342", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trapezius muscle aplasia", "equivalent_identifiers": ["HP:0034342", "UMLS:C5706181"], "information_content": 100.0}
{"id": "MONDO:0032737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 80, autosomal dominant", "equivalent_identifiers": ["MONDO:0032737", "DOID:0112341", "OMIM:618418", "orphanet:631068", "UMLS:C5193084", "medgen:1682111"], "information_content": 100.0}
{"id": "MONDO:0014638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group T", "equivalent_identifiers": ["MONDO:0014638", "DOID:0111081", "OMIM:616435", "UMLS:C4084840", "medgen:896157"], "information_content": 100.0}
{"id": "MONDO:0033651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 16", "equivalent_identifiers": ["MONDO:0033651", "DOID:0070501", "OMIM:619060", "UMLS:C5436714", "medgen:1762514"], "information_content": 100.0}
{"id": "HP:0033503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF fumarate concentration", "equivalent_identifiers": ["HP:0033503", "UMLS:C5826370"], "information_content": 100.0}
{"id": "OMIM:616353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6", "equivalent_identifiers": ["OMIM:616353", "UMLS:C4225356", "NCIT:C176929"], "information_content": 100.0}
{"id": "MONDO:0012237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 6", "equivalent_identifiers": ["MONDO:0012237", "DOID:0110935", "OMIM:609273", "UMLS:C1836472", "MESH:C538398", "medgen:373095"], "information_content": 100.0}
{"id": "MONDO:0011481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis 2", "equivalent_identifiers": ["MONDO:0011481", "DOID:0061009", "OMIM:604757", "orphanet:1541", "UMLS:C1858160", "MESH:C565753", "SNOMEDCT:720817008", "medgen:346753"], "information_content": 100.0}
{"id": "MONDO:0033636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 4", "equivalent_identifiers": ["MONDO:0033636", "DOID:0070493", "OMIM:619048", "UMLS:C5436683", "medgen:1748100"], "information_content": 100.0}
{"id": "MONDO:0014895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 40", "equivalent_identifiers": ["MONDO:0014895", "DOID:0080427", "OMIM:617065", "UMLS:C4310737", "medgen:934704"], "information_content": 100.0}
{"id": "HP:0033363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyaline membranes", "equivalent_identifiers": ["HP:0033363"], "information_content": 100.0}
{"id": "MONDO:0032698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with central and peripheral motor dysfunction", "equivalent_identifiers": ["MONDO:0032698", "OMIM:618356", "UMLS:C5193049", "medgen:1674767"], "information_content": 100.0}
{"id": "MONDO:0011279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 17", "equivalent_identifiers": ["MONDO:0011279", "DOID:0110472", "OMIM:603010", "UMLS:C1864276", "MESH:C566418", "medgen:355180"], "information_content": 100.0}
{"id": "MONDO:0010179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated right ventricular hypoplasia", "equivalent_identifiers": ["MONDO:0010179", "OMIM:277200", "orphanet:439", "UMLS:C1848587", "MESH:C535682", "SNOMEDCT:718135001", "medgen:336377"], "information_content": 100.0}
{"id": "MONDO:0010001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia-blindness syndrome", "equivalent_identifiers": ["MONDO:0010001", "OMIM:268320", "orphanet:1806", "UMLS:C1849332", "MESH:C535865", "medgen:340297"], "information_content": 100.0}
{"id": "HP:0030863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal flaring", "equivalent_identifiers": ["HP:0030863", "NCIT:C87099", "UMLS:C0277873", "MEDDRA:10052319", "SNOMEDCT:21558008"], "information_content": 100.0}
{"id": "MONDO:0007094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1A", "equivalent_identifiers": ["MONDO:0007094", "DOID:0110054", "OMIM:104530", "UMLS:C4011403", "MESH:C538240", "medgen:859840"], "information_content": 100.0}
{"id": "HP:0006311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized microdontia", "equivalent_identifiers": ["HP:0006311", "UMLS:C4025065"], "information_content": 100.0}
{"id": "MONDO:0011369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercholesterolemia, autosomal dominant, 3", "equivalent_identifiers": ["MONDO:0011369", "OMIM:603776", "UMLS:C1863551", "UMLS:C3276239", "MESH:C566337", "medgen:355007"], "information_content": 100.0}
{"id": "HP:0031886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal LDL cholesterol concentration", "equivalent_identifiers": ["HP:0031886", "UMLS:C4703598"], "information_content": 87.2}
{"id": "MONDO:0032745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with variable intellectual impairment and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0032745", "OMIM:618430", "EFO:0010644", "UMLS:C5193092", "medgen:1676192"], "information_content": 100.0}
{"id": "MONDO:0007984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome", "equivalent_identifiers": ["MONDO:0007984", "DOID:0111513", "OMIM:156510", "orphanet:2504", "UMLS:C3549874", "medgen:762788"], "information_content": 100.0}
{"id": "HP:0005625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoporosis of vertebrae", "equivalent_identifiers": ["HP:0005625", "UMLS:C4025170"], "information_content": 100.0}
{"id": "MONDO:0060582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auditory neuropathy-optic atrophy syndrome", "equivalent_identifiers": ["MONDO:0060582", "OMIM:617717", "orphanet:542585", "UMLS:C4521678", "SNOMEDCT:1222649004", "medgen:1623572"], "information_content": 100.0}
{"id": "MONDO:0007177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auriculoosteodysplasia", "equivalent_identifiers": ["MONDO:0007177", "OMIM:109000", "orphanet:114", "UMLS:C1862381", "MESH:C538271", "medgen:400038"], "information_content": 100.0}
{"id": "MONDO:0012291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunoglobulin A deficiency 2", "equivalent_identifiers": ["MONDO:0012291", "OMIM:609529", "UMLS:C1836032", "MESH:C536291", "medgen:372182"], "information_content": 100.0}
{"id": "HP:0004332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lymphocyte morphology", "equivalent_identifiers": ["HP:0004332", "UMLS:C0221277", "UMLS:C0427546", "MEDDRA:10003751", "MEDDRA:10025261", "MEDDRA:10025264", "MEDDRA:10062047", "SNOMEDCT:250284007", "SNOMEDCT:52641009"], "information_content": 58.6}
{"id": "MONDO:0014625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 33", "equivalent_identifiers": ["MONDO:0014625", "DOID:0080463", "OMIM:616409", "UMLS:C4225337", "medgen:897930"], "information_content": 100.0}
{"id": "MONDO:0013310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", "equivalent_identifiers": ["MONDO:0013310", "DOID:0080925", "OMIM:613571", "orphanet:95699", "UMLS:C1860042", "UMLS:C4330909", "NCIT:C131302", "NCIT:C174439", "SNOMEDCT:715733000", "medgen:348008", "icd11.foundation:497412536"], "information_content": 100.0}
{"id": "MONDO:0010077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome", "equivalent_identifiers": ["MONDO:0010077", "DOID:0112196", "OMIM:271665", "orphanet:93358", "UMLS:C1849011", "MESH:C564794", "medgen:338595"], "information_content": 100.0}
{"id": "HP:0003085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long fibula", "equivalent_identifiers": ["HP:0003085", "UMLS:C1848109"], "information_content": 95.4}
{"id": "HP:0100593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcification of cartilage", "equivalent_identifiers": ["HP:0100593", "UMLS:C4022015", "MEDDRA:10087256"], "information_content": 87.2}
{"id": "HP:0009164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal calcification of the carpal bones", "equivalent_identifiers": ["HP:0009164", "UMLS:C1968592"], "information_content": 90.9}
{"id": "HP:0009875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped distal phalanges of the hand", "equivalent_identifiers": ["HP:0009875", "UMLS:C4024176"], "information_content": 87.2}
{"id": "HP:0006600", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive calcification of costochondral cartilage", "equivalent_identifiers": ["HP:0006600", "UMLS:C1968577"], "information_content": 100.0}
{"id": "MONDO:0007753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frey syndrome", "equivalent_identifiers": ["MONDO:0007753", "DOID:11599", "OMIM:144100", "orphanet:662240", "EFO:1000940", "UMLS:C0038994", "MESH:D013547", "MEDDRA:10059249", "SNOMEDCT:238758008", "SNOMEDCT:56046002", "medgen:21041", "HP:0025277"], "information_content": 100.0}
{"id": "OMIM:190351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichorhinophalangeal Syndrome, Type III", "equivalent_identifiers": ["OMIM:190351", "UMLS:C1860823", "MESH:C566033"]}
{"id": "HP:0003279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coxa magna", "equivalent_identifiers": ["HP:0003279", "UMLS:C1860826", "MEDDRA:10081975", "SNOMEDCT:296041000119103", "MESH:D000070603"], "information_content": 100.0}
{"id": "HP:0002805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accelerated bone age after puberty", "equivalent_identifiers": ["HP:0002805", "UMLS:C1860825"], "information_content": 100.0}
{"id": "MONDO:0013184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital diarrhea 5 with tufting enteropathy", "equivalent_identifiers": ["MONDO:0013184", "DOID:0060776", "OMIM:613217", "orphanet:92050", "UMLS:C2750737", "UMLS:C4275062", "MESH:C567703", "NCIT:C183530", "SNOMEDCT:715669000", "medgen:413031"], "information_content": 100.0}
{"id": "HP:0034588", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crypt hyperplasia", "equivalent_identifiers": ["HP:0034588", "UMLS:C3280504"], "information_content": 100.0}
{"id": "MONDO:0012802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculoauricular syndrome", "equivalent_identifiers": ["MONDO:0012802", "DOID:0060482", "OMIM:612109", "orphanet:157962", "UMLS:C2677500", "MESH:C567416", "medgen:393758"], "information_content": 100.0}
{"id": "HP:0032286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ultra-low vision with retained light perception", "equivalent_identifiers": ["HP:0032286", "UMLS:C5139243"], "information_content": 100.0}
{"id": "HP:0011523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris cyst", "equivalent_identifiers": ["HP:0011523", "NCIT:C3982", "UMLS:C0271119", "MEDDRA:10022949", "SNOMEDCT:37761009"], "information_content": 88.2}
{"id": "MONDO:0007701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial heart block type II", "equivalent_identifiers": ["MONDO:0007701", "DOID:0111075", "OMIM:140400", "UMLS:C1841658", "MESH:C564202", "SNOMEDCT:698251009", "medgen:333884"], "information_content": 100.0}
{"id": "HP:0005178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete heart block with narrow QRS complexes", "equivalent_identifiers": ["HP:0005178", "UMLS:C1841661"], "information_content": 100.0}
{"id": "MONDO:0010246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 9", "equivalent_identifiers": ["MONDO:0010246", "DOID:0060848", "OMIM:300088", "orphanet:101039", "UMLS:C1848137", "MESH:C564715", "NCIT:C201590", "medgen:338393"], "information_content": 100.0}
{"id": "MONDO:0032687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", "equivalent_identifiers": ["MONDO:0032687", "DOID:0081265", "OMIM:618342", "UMLS:C5193039", "medgen:1675423"], "information_content": 100.0}
{"id": "HP:0011095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overjet", "equivalent_identifiers": ["HP:0011095", "UMLS:C0596028", "MEDDRA:10088473", "SNOMEDCT:251292006", "SNOMEDCT:70305005"], "information_content": 100.0}
{"id": "MONDO:0011153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinemic hypoglycemia, familial, 2", "equivalent_identifiers": ["MONDO:0011153", "DOID:0070218", "OMIM:601820", "UMLS:C2931833", "medgen:419173"], "information_content": 90.9}
{"id": "MONDO:0007834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "islet cell adenomatosis", "equivalent_identifiers": ["MONDO:0007834", "OMIM:147630", "UMLS:C0027773", "UMLS:C1578917", "MESH:C563258", "MESH:D046768", "MEDDRA:10080024", "NCIT:C4375", "SNOMEDCT:274944000", "medgen:293643", "HP:0034346"], "information_content": 80.2}
{"id": "MONDO:0957985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline", "equivalent_identifiers": ["MONDO:0957985", "OMIM:620636", "UMLS:C5882726", "medgen:1847831"], "information_content": 100.0}
{"id": "MONDO:0008282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyposis, intestinal, with multiple exostoses", "equivalent_identifiers": ["MONDO:0008282", "OMIM:175450", "UMLS:C1868005", "MESH:C566776", "medgen:401357"], "information_content": 100.0}
{"id": "MONDO:0060671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, juvenile myoclonic, susceptibility to, 10", "equivalent_identifiers": ["MONDO:0060671", "DOID:0111325", "OMIM:617924", "UMLS:C4693613", "medgen:1647781"], "information_content": 100.0}
{"id": "MONDO:0012125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 2", "equivalent_identifiers": ["MONDO:0012125", "DOID:0060787", "OMIM:608804", "orphanet:280282", "UMLS:C1837355", "MESH:C563855", "SNOMEDCT:870287007", "medgen:325157", "ICD10:E75.2"], "information_content": 100.0}
{"id": "MONDO:0010406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome Xp11.22 duplication syndrome", "equivalent_identifiers": ["MONDO:0010406", "DOID:0112037", "OMIM:300705", "UMLS:C0796223", "UMLS:C0796238", "MESH:C563140", "MESH:C563147", "medgen:208679"], "information_content": 100.0}
{"id": "MONDO:0700248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolytic hyperkeratosis 2A, autosomal dominant", "equivalent_identifiers": ["MONDO:0700248", "OMIM:620150", "UMLS:C5882671", "medgen:1846123"], "information_content": 100.0}
{"id": "MONDO:0030890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, IIA 17", "equivalent_identifiers": ["MONDO:0030890", "OMIM:619909", "UMLS:C5676999", "medgen:1809583"], "information_content": 100.0}
{"id": "MONDO:0012409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 2", "equivalent_identifiers": ["MONDO:0012409", "DOID:0060839", "OMIM:610093", "UMLS:C1864720", "MESH:C566446", "medgen:351204"], "information_content": 95.4}
{"id": "MONDO:0060677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1p35 deletion syndrome", "equivalent_identifiers": ["MONDO:0060677", "OMIM:617930", "UMLS:C4693669", "medgen:1632676"], "information_content": 100.0}
{"id": "MONDO:0012130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 2", "equivalent_identifiers": ["MONDO:0012130", "DOID:0080093", "OMIM:608810", "orphanet:399058", "UMLS:C1837317", "MESH:C563848", "medgen:324735"], "information_content": 100.0}
{"id": "MONDO:0011234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auriculocondylar syndrome 1", "equivalent_identifiers": ["MONDO:0011234", "OMIM:602483", "UMLS:C4551996", "medgen:1639644"], "information_content": 100.0}
{"id": "HP:0009088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Speech articulation difficulties", "equivalent_identifiers": ["HP:0009088", "UMLS:C1865313"], "information_content": 90.9}
{"id": "HP:0008537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft at the superior portion of the pinna", "equivalent_identifiers": ["HP:0008537", "UMLS:C1865302"], "information_content": 100.0}
{"id": "HP:0007627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mandibular condyle aplasia", "equivalent_identifiers": ["HP:0007627", "UMLS:C0399570", "UMLS:C4280429", "UMLS:C4280430", "UMLS:C4280431", "UMLS:C4280432", "UMLS:C4280433", "UMLS:C4280434", "UMLS:C4280435", "UMLS:C4280436", "UMLS:C4280437", "SNOMEDCT:235119009"], "information_content": 100.0}
{"id": "MONDO:0012985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 5", "equivalent_identifiers": ["MONDO:0012985", "DOID:0110920", "OMIM:612690", "UMLS:C2675192", "MESH:C567202", "medgen:436371"], "information_content": 100.0}
{"id": "HP:0011893", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal leukocyte count", "equivalent_identifiers": ["HP:0011893", "UMLS:C0580531", "MEDDRA:10047940", "MEDDRA:10047941", "SNOMEDCT:165509000"], "information_content": 58.4}
{"id": "MONDO:0014365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 13", "equivalent_identifiers": ["MONDO:0014365", "DOID:0070182", "OMIM:615841", "UMLS:C4014449", "medgen:862886"], "information_content": 100.0}
{"id": "MONDO:0014615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 2, photosensitive", "equivalent_identifiers": ["MONDO:0014615", "DOID:0111869", "OMIM:616390", "UMLS:C4225344", "NCIT:C173103", "medgen:905904"], "information_content": 100.0}
{"id": "MONDO:0032724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 3", "equivalent_identifiers": ["MONDO:0032724", "DOID:0112200", "OMIM:618395", "orphanet:642085", "UMLS:C5193073", "SNOMEDCT:1286834000", "medgen:1677378"], "information_content": 100.0}
{"id": "MONDO:0030970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 106, susceptibility to viral infections", "equivalent_identifiers": ["MONDO:0030970", "DOID:0061075", "OMIM:619935", "UMLS:C5677009", "medgen:1804672"], "information_content": 100.0}
{"id": "HP:0020088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Post-vaccination measles", "equivalent_identifiers": ["HP:0020088", "UMLS:C5139071"], "information_content": 100.0}
{"id": "HP:0034310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Post-vaccination yellow fever", "equivalent_identifiers": ["HP:0034310", "UMLS:C5706159"], "information_content": 100.0}
{"id": "MONDO:0007595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor VII and Factor VIII, combined deficiency of", "equivalent_identifiers": ["MONDO:0007595", "OMIM:134430", "UMLS:C1851377", "MESH:C565025", "medgen:341995"], "information_content": 100.0}
{"id": "MONDO:0007114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angel-shaped phalango-epiphyseal dysplasia", "equivalent_identifiers": ["MONDO:0007114", "OMIM:105835", "orphanet:63442", "UMLS:C1739384", "MESH:C536361", "MEDDRA:10066017", "MEDDRA:10066018", "SNOMEDCT:720984008", "medgen:366028", "icd11.foundation:1095628863"], "information_content": 100.0}
{"id": "MONDO:0007747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated hyperchlorhidrosis", "equivalent_identifiers": ["MONDO:0007747", "DOID:0111371", "OMIM:143860", "orphanet:542657", "UMLS:C1840437", "SNOMEDCT:709413001", "medgen:333560"], "information_content": 100.0}
{"id": "MONDO:0020726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tubulointerstitial kidney disease, autosomal dominant, 2", "equivalent_identifiers": ["MONDO:0020726", "DOID:0061118", "OMIM:174000", "orphanet:88949", "EFO:0008617", "UMLS:C1868139", "UMLS:C4054549", "NCIT:C123171", "SNOMEDCT:726017001", "medgen:358137"], "information_content": 100.0}
{"id": "HP:0002048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal cortical atrophy", "equivalent_identifiers": ["HP:0002048", "UMLS:C4025730"], "information_content": 95.4}
{"id": "MONDO:0030958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 35, childhood-onset", "equivalent_identifiers": ["MONDO:0030958", "DOID:0060955", "OMIM:619921", "UMLS:C5677003", "medgen:1801185"], "information_content": 100.0}
{"id": "MONDO:0011147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 18q deletion syndrome", "equivalent_identifiers": ["MONDO:0011147", "DOID:0060407", "OMIM:601808", "orphanet:1600", "orphanet:262146", "UMLS:C0432443", "MESH:C536580", "MEDDRA:10066051", "NCIT:C84522", "SNOMEDCT:270889005", "medgen:96605", "icd11.foundation:1121828795"], "information_content": 92.8}
{"id": "MONDO:0020064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary valve agenesis", "equivalent_identifiers": ["MONDO:0020064", "orphanet:982", "UMLS:C0265831", "UMLS:C0344983", "SNOMEDCT:253596003", "SNOMEDCT:6996004", "medgen:576671", "HP:0005134"], "information_content": 92.8}
{"id": "MONDO:0032714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome", "equivalent_identifiers": ["MONDO:0032714", "OMIM:618381", "orphanet:598603", "UMLS:C5193066", "SNOMEDCT:1304114004", "medgen:1679105"], "information_content": 100.0}
{"id": "HP:6000833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperkalemia while symptomatic", "equivalent_identifiers": ["HP:6000833", "UMLS:C1868442"], "information_content": 100.0}
{"id": "MONDO:0013536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heme oxygenase 1 deficiency", "equivalent_identifiers": ["MONDO:0013536", "OMIM:614034", "orphanet:562509", "UMLS:C1841651", "MESH:C564200", "SNOMEDCT:1230003009", "medgen:333882"], "information_content": 100.0}
{"id": "HP:0012375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chemosis", "equivalent_identifiers": ["HP:0012375", "NCIT:C50490", "UMLS:C0271298", "MEDDRA:10008435", "SNOMEDCT:8148005"], "information_content": 100.0}
{"id": "MONDO:0010012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune polyendocrinopathy type 2", "equivalent_identifiers": ["MONDO:0010012", "DOID:0050168", "OMIM:269200", "orphanet:3143", "UMLS:C0085860", "MEDDRA:10036073", "MEDDRA:10075506", "MEDDRA:10083966", "NCIT:C129728", "SNOMEDCT:83728000", "medgen:39126", "icd11.foundation:1065249344"], "information_content": 100.0}
{"id": "HP:0033000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subglottic laryngitis", "equivalent_identifiers": ["HP:0033000", "UMLS:C4049282", "MEDDRA:10076988"], "information_content": 100.0}
{"id": "MONDO:0013516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 60", "equivalent_identifiers": ["MONDO:0013516", "DOID:0110411", "OMIM:613983", "UMLS:C3151434", "medgen:462784"], "information_content": 100.0}
{"id": "MONDO:0030428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 85 and autoimmunity", "equivalent_identifiers": ["MONDO:0030428", "DOID:0061055", "OMIM:619510", "UMLS:C5561976", "medgen:1794186"], "information_content": 100.0}
{"id": "MONDO:0009138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysosteosclerosis", "equivalent_identifiers": ["MONDO:0009138", "OMIM:224300", "orphanet:1782", "UMLS:C0432262", "MESH:C562973", "SNOMEDCT:254123002", "medgen:98150", "icd11.foundation:1853176074"], "information_content": 100.0}
{"id": "HP:0001474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic scapulae", "equivalent_identifiers": ["HP:0001474", "UMLS:C1849263"], "information_content": 100.0}
{"id": "HP:0004054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerosis of hand bone", "equivalent_identifiers": ["HP:0004054", "UMLS:C4021684"], "information_content": 71.1}
{"id": "HP:0006383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive bowing of long bones", "equivalent_identifiers": ["HP:0006383", "UMLS:C1857137"], "information_content": 92.8}
{"id": "HP:0000941", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short diaphyses", "equivalent_identifiers": ["HP:0000941", "UMLS:C4025815"], "information_content": 100.0}
{"id": "MONDO:0032575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea 9", "equivalent_identifiers": ["MONDO:0032575", "OMIM:618168", "EFO:1001306", "UMLS:C4748517", "medgen:1648425"], "information_content": 100.0}
{"id": "MONDO:0010096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tardive dyskinesia", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0010096", "OMIM:272620", "UMLS:C0686347", "UMLS:C3714760", "MESH:D000071057", "MEDDRA:10013928", "MEDDRA:10043118", "SNOMEDCT:102449007", "medgen:151939", "HP:0040141"], "information_content": 100.0}
{"id": "HP:0031943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Akathisia", "equivalent_identifiers": ["HP:0031943", "NCIT:C78163", "UMLS:C0392156", "MEDDRA:10000355", "MEDDRA:10001540", "MEDDRA:10061244", "SNOMEDCT:285145004"], "information_content": 95.4}
{"id": "MONDO:0014507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Catel-Manzke syndrome", "equivalent_identifiers": ["MONDO:0014507", "DOID:0081122", "OMIM:616145", "orphanet:1388", "UMLS:C1844887", "MESH:C535347", "MEDDRA:10083949", "SNOMEDCT:722383001", "medgen:375536", "icd11.foundation:1023183031"], "information_content": 100.0}
{"id": "HP:0030368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperphalangy of the 2nd finger", "equivalent_identifiers": ["HP:0030368", "UMLS:C4072907"], "information_content": 100.0}
{"id": "MONDO:0009080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split hand-foot malformation 1 with sensorineural hearing loss", "equivalent_identifiers": ["MONDO:0009080", "DOID:0090024", "OMIM:220600", "orphanet:71271", "UMLS:C1857344", "MESH:C565647", "SNOMEDCT:723611008", "medgen:347431"], "information_content": 100.0}
{"id": "MONDO:0011200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia 7", "equivalent_identifiers": ["MONDO:0011200", "DOID:0090040", "OMIM:602124", "UMLS:C1865818", "UMLS:C1865819", "MESH:C566572", "medgen:355560"], "information_content": 100.0}
{"id": "MONDO:0014195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcornea-myopic chorioretinal atrophy", "equivalent_identifiers": ["MONDO:0014195", "OMIM:615458", "orphanet:369970", "UMLS:C3809567", "medgen:815897"], "information_content": 100.0}
{"id": "MONDO:0009051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous photosensitivity-lethal colitis syndrome", "equivalent_identifiers": ["MONDO:0009051", "OMIM:219095", "orphanet:2881", "UMLS:C1857449", "MESH:C536224", "medgen:347455"], "information_content": 100.0}
{"id": "HP:0007396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early cutaneous photosensitivity", "equivalent_identifiers": ["HP:0007396", "UMLS:C4024889"], "information_content": 100.0}
{"id": "MONDO:0007232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant brachyolmia", "equivalent_identifiers": ["MONDO:0007232", "OMIM:113500", "orphanet:93304", "UMLS:C0432227", "MESH:C562963", "MEDDRA:10081839", "MEDDRA:10081840", "SNOMEDCT:717264003", "medgen:96583"], "information_content": 100.0}
{"id": "MONDO:0012869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 22", "equivalent_identifiers": ["MONDO:0012869", "DOID:0070052", "OMIM:612337", "UMLS:C2676727", "MESH:C567346"], "information_content": 100.0}
{"id": "OMIM:613029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GLIOMA SUSCEPTIBILITY 3", "equivalent_identifiers": ["OMIM:613029", "UMLS:C2751641"]}
{"id": "MONDO:0007519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Edinburgh malformation syndrome", "equivalent_identifiers": ["MONDO:0007519", "OMIM:129850", "orphanet:1895", "UMLS:C0795933", "MESH:C563051", "SNOMEDCT:771178004", "medgen:167084"], "information_content": 100.0}
{"id": "MONDO:0014508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitelliform macular dystrophy 4", "equivalent_identifiers": ["MONDO:0014508", "OMIM:616151", "UMLS:C4015342", "medgen:863779"], "information_content": 100.0}
{"id": "HP:0008179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased Arden ratio of electrooculogram", "equivalent_identifiers": ["HP:0008179", "UMLS:C4024720"], "information_content": 100.0}
{"id": "MONDO:0007294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central core myopathy", "equivalent_identifiers": ["MONDO:0007294", "DOID:3529", "OMIM:117000", "orphanet:597", "EFO:1000855", "UMLS:C0751951", "UMLS:C5830701", "MESH:D020512", "MEDDRA:10057620", "MEDDRA:10057629", "NCIT:C202545", "NCIT:C83010", "SNOMEDCT:43152001", "medgen:1841337", "icd11.foundation:2065822840", "ICD10:G71.29"], "information_content": 100.0}
{"id": "MONDO:0859186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chopra-Amiel-Gordon syndrome", "equivalent_identifiers": ["MONDO:0859186", "OMIM:619504", "UMLS:C5561975", "medgen:1794185"], "information_content": 100.0}
{"id": "MONDO:0009112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic chondrodysplasia punctata type 2", "equivalent_identifiers": ["MONDO:0009112", "DOID:0110852", "OMIM:222765", "orphanet:309796", "UMLS:C1857242", "MESH:C537607", "SNOMEDCT:1003860009", "medgen:341734", "icd11.foundation:179969811"], "information_content": 100.0}
{"id": "HP:4000165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating plasmalogen concentration", "equivalent_identifiers": ["HP:4000165", "UMLS:C5826895"], "information_content": 100.0}
{"id": "HP:0008838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stippled calcification proximal humeral epiphyses", "equivalent_identifiers": ["HP:0008838", "UMLS:C1857243"], "information_content": 100.0}
{"id": "HP:6000426", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000426", "UMLS:C5937204"], "information_content": 100.0}
{"id": "MONDO:0007157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 1A", "equivalent_identifiers": ["MONDO:0007157", "DOID:0111597", "OMIM:108120", "UMLS:C0220662", "MESH:C535378", "SNOMEDCT:715314008", "medgen:113099"], "information_content": 100.0}
{"id": "HP:0009742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff shoulders", "equivalent_identifiers": ["HP:0009742", "UMLS:C0241042", "MEDDRA:10042060", "SNOMEDCT:249918006"], "information_content": 100.0}
{"id": "MONDO:0012450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 28", "equivalent_identifiers": ["MONDO:0012450", "DOID:0050977", "OMIM:610246", "orphanet:101109", "UMLS:C1853249", "MESH:C537205", "SNOMEDCT:715824008", "medgen:339941", "icd11.foundation:2020736035"], "information_content": 100.0}
{"id": "MONDO:0008667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "von Hippel-Lindau disease", "equivalent_identifiers": ["MONDO:0008667", "DOID:14175", "OMIM:193300", "orphanet:892", "UMLS:C0019562", "UMLS:C2674004", "MESH:D006623", "MEDDRA:10047716", "NCIT:C3105", "SNOMEDCT:46659004", "medgen:42458", "icd11.foundation:1985408165", "ICD10:Q85.83"], "information_content": 83.1}
{"id": "MONDO:0002404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver hemangioma", "equivalent_identifiers": ["MONDO:0002404", "DOID:271", "UMLS:C0238246", "MEDDRA:10018821", "MEDDRA:10019396", "NCIT:C3869", "SNOMEDCT:93469006", "medgen:66765", "HP:0031207"], "information_content": 90.9}
{"id": "MONDO:0006977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatocele", "equivalent_identifiers": ["MONDO:0006977", "DOID:11997", "EFO:1001189", "UMLS:C0037859", "UMLS:C5442141", "MESH:D013088", "MEDDRA:10014994", "MEDDRA:10041490", "NCIT:C120909", "NCIT:C3865", "SNOMEDCT:43077002", "SNOMEDCT:49263001", "medgen:20857", "icd11.foundation:1907004531", "ICD10:N43.4", "ICD9:608.1", "HP:0030424"], "information_content": 100.0}
{"id": "MONDO:0003901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar hemangioblastoma", "equivalent_identifiers": ["MONDO:0003901", "DOID:6500", "UMLS:C1332900", "NCIT:C5146", "SNOMEDCT:1351890004", "medgen:234108", "HP:0006880"], "information_content": 100.0}
{"id": "MONDO:0003343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal hemangioblastoma", "equivalent_identifiers": ["MONDO:0003343", "DOID:5240", "UMLS:C0730303", "UMLS:C1514915", "NCIT:C39783", "SNOMEDCT:312935003", "medgen:152677", "HP:0009711"], "information_content": 90.9}
{"id": "HP:0009713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal hemangioblastoma", "equivalent_identifiers": ["HP:0009713", "NCIT:C155948", "UMLS:C4024223"], "information_content": 100.0}
{"id": "HP:0009715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papillary cystadenoma of the epididymis", "equivalent_identifiers": ["HP:0009715", "UMLS:C4024221"], "information_content": 100.0}
{"id": "MONDO:0013528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 14", "equivalent_identifiers": ["MONDO:0013528", "DOID:0081188", "OMIM:614020", "UMLS:C3151462", "medgen:462812"], "information_content": 100.0}
{"id": "MONDO:0011416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus, type 1", "equivalent_identifiers": ["MONDO:0011416", "DOID:0111302", "OMIM:604233", "UMLS:C1858672", "MESH:C565809", "medgen:348994"], "information_content": 100.0}
{"id": "MONDO:0011056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilms tumor 4", "equivalent_identifiers": ["MONDO:0011056", "OMIM:601363", "UMLS:C1832426", "MESH:C563336", "medgen:318623"], "information_content": 100.0}
{"id": "MONDO:0032841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome, type 1M", "equivalent_identifiers": ["MONDO:0032841", "OMIM:618632", "UMLS:C5231434", "medgen:1684669"], "information_content": 100.0}
{"id": "MONDO:0013523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nestor-Guillermo progeria syndrome", "equivalent_identifiers": ["MONDO:0013523", "DOID:0081334", "OMIM:614008", "orphanet:280576", "UMLS:C3151446", "SNOMEDCT:773331001", "medgen:462796"], "information_content": 100.0}
{"id": "HP:0034047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rib osteolysis", "equivalent_identifiers": ["HP:0034047", "UMLS:C3151449"], "information_content": 100.0}
{"id": "HP:0034046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mandibular osteolysis", "equivalent_identifiers": ["HP:0034046", "UMLS:C3151450"], "information_content": 100.0}
{"id": "MONDO:0013413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 45", "equivalent_identifiers": ["MONDO:0013413", "DOID:0110402", "OMIM:613767", "UMLS:C3151066", "medgen:462416"], "information_content": 100.0}
{"id": "MONDO:0009009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplasminogenemia", "equivalent_identifiers": ["MONDO:0009009", "DOID:0111592", "OMIM:217090", "orphanet:722", "UMLS:C0398621", "UMLS:C1968804", "MESH:C566897", "MESH:C580017", "SNOMEDCT:95840007", "SNOMEDCT:95844003", "medgen:369859", "icd11.foundation:1240776230", "ICD10:E88.02"], "information_content": 100.0}
{"id": "HP:0040228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of plasminogen", "equivalent_identifiers": ["HP:0040228", "UMLS:C4280715"], "information_content": 100.0}
{"id": "MONDO:0013074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalocraniocutaneous lipomatosis", "equivalent_identifiers": ["MONDO:0013074", "OMIM:613001", "orphanet:2396", "UMLS:C0406612", "MESH:C535736", "NCIT:C4701", "SNOMEDCT:238905009", "medgen:140807", "icd11.foundation:1084215843"], "information_content": 100.0}
{"id": "HP:0100251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple central nervous system lipomas", "equivalent_identifiers": ["HP:0100251", "UMLS:C4022180"], "information_content": 89.4}
{"id": "HP:0034587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevus psiloliparus", "equivalent_identifiers": ["HP:0034587", "UMLS:C5826500"], "information_content": 100.0}
{"id": "MONDO:0008070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 2a, typical, autosomal dominant", "equivalent_identifiers": ["MONDO:0008070", "DOID:0110927", "OMIM:161800", "orphanet:98904", "UMLS:C3711377", "UMLS:C3711389", "MESH:C579880", "MESH:C580202", "NCIT:C129870", "SNOMEDCT:702349003", "medgen:777997"], "information_content": 100.0}
{"id": "HP:0003810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late-onset distal muscle weakness", "equivalent_identifiers": ["HP:0003810", "UMLS:C4025565"], "information_content": 100.0}
{"id": "MONDO:0032564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hennekam lymphangiectasia-lymphedema syndrome 3", "equivalent_identifiers": ["MONDO:0032564", "OMIM:618154", "UMLS:C4748408", "medgen:1648368"], "information_content": 100.0}
{"id": "MONDO:0012513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 7", "equivalent_identifiers": ["MONDO:0012513", "DOID:0111106", "OMIM:610508", "UMLS:C1864839", "MESH:C566466", "SNOMEDCT:609574004", "medgen:351232"], "information_content": 100.0}
{"id": "MONDO:0029137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 74", "equivalent_identifiers": ["MONDO:0029137", "DOID:0112165", "OMIM:618140", "UMLS:C4748334", "medgen:1648467"], "information_content": 100.0}
{"id": "MONDO:0011764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Parkinson disease 8", "equivalent_identifiers": ["MONDO:0011764", "DOID:0060371", "OMIM:607060", "UMLS:C1846862", "NCIT:C198605", "medgen:339628"], "information_content": 100.0}
{"id": "MONDO:0009165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 1", "equivalent_identifiers": ["MONDO:0009165", "OMIM:225750", "UMLS:C0796126", "UMLS:C3150315", "NCIT:C165501", "medgen:162912"], "information_content": 100.0}
{"id": "HP:0009704", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic CSF lymphocytosis", "equivalent_identifiers": ["HP:0009704", "UMLS:C4024229"], "information_content": 100.0}
{"id": "HP:0009709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF interferon alpha", "equivalent_identifiers": ["HP:0009709", "UMLS:C1856983"], "information_content": 100.0}
{"id": "MONDO:0010004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEC syndrome", "equivalent_identifiers": ["MONDO:0010004", "DOID:0060782", "OMIM:268650", "orphanet:1896", "UMLS:C0406704", "MESH:C536189", "NCIT:C148261", "SNOMEDCT:39788007", "medgen:98357"], "information_content": 92.8}
{"id": "HP:0008714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureterovesical stenosis", "equivalent_identifiers": ["HP:0008714", "UMLS:C4024633"], "information_content": 100.0}
{"id": "MONDO:0100044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofrontofacionasal dysostosis 1", "equivalent_identifiers": ["MONDO:0100044", "OMIM:201180", "UMLS:C4551987", "MESH:C538186", "medgen:1632008"], "information_content": 100.0}
{"id": "MONDO:0859192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cavernous malformation 4", "inheritance": "Autosomal dominant germline de novo mutation", "equivalent_identifiers": ["MONDO:0859192", "OMIM:619538", "UMLS:C5561991", "medgen:1794201"], "information_content": 100.0}
{"id": "MONDO:0011898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive", "equivalent_identifiers": ["MONDO:0011898", "DOID:0051028", "OMIM:607706", "UMLS:C1843183", "MESH:C539595", "medgen:375113"], "information_content": 100.0}
{"id": "MONDO:0957248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 31B", "equivalent_identifiers": ["MONDO:0957248", "DOID:0070376", "OMIM:620352", "UMLS:C5830459", "medgen:1841095"], "information_content": 100.0}
{"id": "MONDO:0010811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign prostatic hyperplasia", "equivalent_identifiers": ["MONDO:0010811", "DOID:11132", "OMIM:600082", "EFO:0000284", "UMLS:C0005001", "UMLS:C1306869", "UMLS:C1306871", "UMLS:C1704272", "UMLS:C1739363", "UMLS:C2937421", "MESH:D011470", "MEDDRA:10004446", "MEDDRA:10004447", "MEDDRA:10014840", "MEDDRA:10020728", "MEDDRA:10020730", "MEDDRA:10036961", "MEDDRA:10036962", "MEDDRA:10036963", "MEDDRA:10065030", "NCIT:C2897", "SNOMEDCT:266569009", "SNOMEDCT:433234005", "medgen:312369", "HP:0008711"], "information_content": 89.4}
{"id": "MONDO:0032933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant", "equivalent_identifiers": ["MONDO:0032933", "DOID:0070470", "OMIM:618815", "orphanet:656279", "UMLS:C5394150", "medgen:1708515"], "information_content": 100.0}
{"id": "MONDO:0008870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bird headed-dwarfism, Montreal type", "equivalent_identifiers": ["MONDO:0008870", "OMIM:210700", "orphanet:2617", "UMLS:C1859468", "MESH:C535448", "SNOMEDCT:765758008", "medgen:347890"], "information_content": 100.0}
{"id": "HP:0007605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excessive wrinkling of palmar skin", "equivalent_identifiers": ["HP:0007605", "UMLS:C4021572"], "information_content": 95.4}
{"id": "MONDO:0010284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Armfield syndrome", "equivalent_identifiers": ["MONDO:0010284", "DOID:0050764", "OMIM:300261", "orphanet:85276", "UMLS:C1846057", "UMLS:C4305022", "MESH:C564551", "SNOMEDCT:719017003", "medgen:375800", "ICD10:Q87.8"], "information_content": 100.0}
{"id": "MONDO:0014523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome", "equivalent_identifiers": ["MONDO:0014523", "OMIM:616192", "orphanet:445062", "UMLS:C4015436", "SNOMEDCT:1255271005", "medgen:863873"], "information_content": 100.0}
{"id": "HP:0034063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-islet antigen-2 antibody positivity", "equivalent_identifiers": ["HP:0034063", "UMLS:C5575016"], "information_content": 95.4}
{"id": "MONDO:0008235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pheochromocytoma-islet cell tumor syndrome", "equivalent_identifiers": ["MONDO:0008235", "OMIM:171420", "UMLS:C1868392", "MESH:C566807", "medgen:401431"], "information_content": 100.0}
{"id": "MONDO:0011610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dimethylglycine dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0011610", "DOID:0081446", "OMIM:605850", "orphanet:243343", "UMLS:C1853892", "MESH:C565278", "SNOMEDCT:719449007", "medgen:343006"], "information_content": 90.9}
{"id": "HP:0031945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating N,N-dimethylglycine concentration", "equivalent_identifiers": ["HP:0031945", "UMLS:C4732768"], "information_content": 100.0}
{"id": "HP:0031946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary N,N-dimethylglycine level", "equivalent_identifiers": ["HP:0031946", "UMLS:C4732769"], "information_content": 100.0}
{"id": "HP:0410020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fish odor", "equivalent_identifiers": ["HP:0410020", "UMLS:C4477064"], "information_content": 95.4}
{"id": "MONDO:0007403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited Creutzfeldt-Jakob disease", "equivalent_identifiers": ["MONDO:0007403", "OMIM:123400", "orphanet:282166", "UMLS:C0751254", "UMLS:C1969957", "MESH:C566981", "SNOMEDCT:715807002", "medgen:155837", "icd11.foundation:607607042"], "information_content": 95.4}
{"id": "HP:0007076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extrapyramidal muscular rigidity", "equivalent_identifiers": ["HP:0007076", "UMLS:C1852470"], "information_content": 95.4}
{"id": "HP:0005327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of facial expression", "equivalent_identifiers": ["HP:0005327", "UMLS:C1852476"], "information_content": 100.0}
{"id": "MONDO:0009063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventriculomegaly-cystic kidney disease", "equivalent_identifiers": ["MONDO:0009063", "DOID:0111625", "OMIM:219730", "orphanet:443988", "UMLS:C1857423", "MESH:C565657", "SNOMEDCT:1216942009", "medgen:346584"], "information_content": 100.0}
{"id": "MONDO:0013501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 6", "equivalent_identifiers": ["MONDO:0013501", "DOID:0060205", "OMIM:613954", "UMLS:C5436279", "medgen:1759760"], "information_content": 100.0}
{"id": "MONDO:0010693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus 1, congenital, X-linked", "equivalent_identifiers": ["MONDO:0010693", "DOID:0111790", "OMIM:310700", "UMLS:C1839580", "UMLS:C3151880", "MESH:C537853", "medgen:333352"], "information_content": 100.0}
{"id": "HP:0032037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mildly reduced visual acuity", "equivalent_identifiers": ["HP:0032037", "UMLS:C4732817"], "information_content": 100.0}
{"id": "MONDO:0011935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 30", "equivalent_identifiers": ["MONDO:0011935", "DOID:0110406", "OMIM:607921", "UMLS:C1842816", "MESH:C564310", "medgen:334614"], "information_content": 100.0}
{"id": "MONDO:0032924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 45", "equivalent_identifiers": ["MONDO:0032924", "DOID:0111857", "OMIM:618801", "UMLS:C5394104", "medgen:1714988"], "information_content": 100.0}
{"id": "MONDO:0007479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dwarfism, Levi type", "equivalent_identifiers": ["MONDO:0007479", "OMIM:127100", "UMLS:C1851994", "MESH:C565081", "medgen:338837"], "information_content": 100.0}
{"id": "MONDO:0008759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oxoglutaricaciduria", "equivalent_identifiers": ["MONDO:0008759", "DOID:0081326", "OMIM:203740", "orphanet:31", "UMLS:C2752074", "MESH:C536582", "SNOMEDCT:733630004", "medgen:414553"], "information_content": 100.0}
{"id": "HP:0004902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital lactic acidosis", "equivalent_identifiers": ["HP:0004902", "UMLS:C4025276"], "information_content": 100.0}
{"id": "MONDO:0012368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aminoacylase 1 deficiency", "equivalent_identifiers": ["MONDO:0012368", "OMIM:609924", "orphanet:137754", "EFO:1001981", "UMLS:C1835922", "MESH:C538246", "SNOMEDCT:709282004", "medgen:324393"], "information_content": 100.0}
{"id": "MONDO:0032943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies", "equivalent_identifiers": ["MONDO:0032943", "OMIM:618829", "orphanet:662175", "UMLS:C5394221", "medgen:1714169"], "information_content": 100.0}
{"id": "MONDO:0032596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenic syndrome, congenital, 23, presynaptic", "equivalent_identifiers": ["MONDO:0032596", "OMIM:618197", "UMLS:C4748678", "medgen:1648392"], "information_content": 100.0}
{"id": "MONDO:0007470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calvarial doughnut lesions-bone fragility syndrome", "equivalent_identifiers": ["MONDO:0007470", "DOID:0080721", "OMIM:126550", "orphanet:85192", "UMLS:C1852022", "MESH:C565089", "SNOMEDCT:720598005", "medgen:377572"], "information_content": 100.0}
{"id": "MONDO:0007909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial multiple lipomatosis", "equivalent_identifiers": ["MONDO:0007909", "DOID:0070518", "OMIM:151900", "orphanet:199276", "UMLS:C1275273", "UMLS:C3489413", "MESH:D000071070", "MEDDRA:10081235", "SNOMEDCT:404063007", "SNOMEDCT:766888002", "medgen:698553"], "information_content": 100.0}
{"id": "MONDO:0015243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "allergic bronchopulmonary aspergillosis", "equivalent_identifiers": ["MONDO:0015243", "DOID:13166", "OMIM:103920", "orphanet:1164", "EFO:0007140", "UMLS:C0004031", "UMLS:C3278302", "MESH:D001229", "MEDDRA:10001707", "MEDDRA:10006474", "NCIT:C84547", "SNOMEDCT:37981002", "medgen:479932", "icd11.foundation:1591607082", "ICD10:B44.81", "ICD9:518.6"], "information_content": 95.4}
{"id": "MONDO:0007251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "campomelic dysplasia", "equivalent_identifiers": ["MONDO:0007251", "DOID:0050463", "OMIM:114290", "orphanet:140", "UMLS:C1842462", "UMLS:C1861922", "UMLS:C1861923", "UMLS:C3549544", "MESH:C564282", "MESH:D055036", "MEDDRA:10083962", "NCIT:C120205", "NCIT:C84609", "SNOMEDCT:74928006", "medgen:354620", "icd11.foundation:913761638"], "information_content": 95.4}
{"id": "HP:0032538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pretibial dimple", "equivalent_identifiers": ["HP:0032538", "UMLS:C1833746"], "information_content": 100.0}
{"id": "HP:0005035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all phalanges of the toes", "equivalent_identifiers": ["HP:0005035", "UMLS:C4025257"], "information_content": 78.5}
{"id": "HP:0008477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poorly ossified cervical vertebrae", "equivalent_identifiers": ["HP:0008477", "UMLS:C4024670"], "information_content": 100.0}
{"id": "MONDO:0013990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 8", "equivalent_identifiers": ["MONDO:0013990", "DOID:0060277", "OMIM:614961", "orphanet:324569", "UMLS:C3554209", "SNOMEDCT:718611007", "medgen:767123"], "information_content": 100.0}
{"id": "MONDO:0012737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 10", "equivalent_identifiers": ["MONDO:0012737", "DOID:0110651", "OMIM:611819", "UMLS:C2678484", "MESH:C567514", "medgen:394836"], "information_content": 100.0}
{"id": "HP:0012266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-wave alternans", "equivalent_identifiers": ["HP:0012266", "NCIT:C102718", "UMLS:C1998313", "SNOMEDCT:428550008"], "information_content": 100.0}
{"id": "MONDO:0032586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea 10, protein-losing enteropathy type", "equivalent_identifiers": ["MONDO:0032586", "OMIM:618183", "UMLS:C4748579", "medgen:1648311"], "information_content": 100.0}
{"id": "MONDO:0018959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "potassium-aggravated myotonia", "equivalent_identifiers": ["MONDO:0018959", "OMIM:608390", "orphanet:612", "UMLS:C2931826", "MESH:C538353", "NCIT:C122788", "SNOMEDCT:702355008", "medgen:444151", "icd11.foundation:1707250468"], "information_content": 90.9}
{"id": "HP:0025425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngospasm", "equivalent_identifiers": ["HP:0025425"], "information_content": 100.0}
{"id": "MONDO:0008881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kyphomelic dysplasia", "equivalent_identifiers": ["MONDO:0008881", "OMIM:211350", "orphanet:1801", "UMLS:C0432239", "MESH:C538128", "SNOMEDCT:254096001", "medgen:140930", "icd11.foundation:268821879"], "information_content": 100.0}
{"id": "HP:0005009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dumbbell-shaped humerus", "equivalent_identifiers": ["HP:0005009", "UMLS:C4025259"], "information_content": 100.0}
{"id": "MONDO:0012736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 9", "equivalent_identifiers": ["MONDO:0012736", "DOID:0110650", "OMIM:611818", "UMLS:C2678485", "MESH:C567515", "medgen:395635"], "information_content": 100.0}
{"id": "HP:0025070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal U wave", "equivalent_identifiers": ["HP:0025070", "NCIT:C106579", "UMLS:C3827674"], "information_content": 90.9}
{"id": "MONDO:0020751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orthostatic hypotension 2", "equivalent_identifiers": ["MONDO:0020751", "OMIM:618182", "UMLS:C4748569", "medgen:1648282"], "information_content": 100.0}
{"id": "MONDO:0025622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1", "equivalent_identifiers": ["MONDO:0025622", "OMIM:500013", "UMLS:C5435765", "medgen:1731194"], "information_content": 100.0}
{"id": "HP:0008110", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Equinovarus deformity", "equivalent_identifiers": ["HP:0008110", "UMLS:C4551566", "SNOMEDCT:249808002"], "information_content": 100.0}
{"id": "MONDO:0009424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease type 2", "equivalent_identifiers": ["MONDO:0009424", "DOID:0110143", "OMIM:241200", "orphanet:620220", "UMLS:C1855849", "MESH:C537651", "SNOMEDCT:700109009", "medgen:343428"], "information_content": 100.0}
{"id": "MONDO:0008835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asthma, short stature, and elevated IgA", "equivalent_identifiers": ["MONDO:0008835", "OMIM:208600", "UMLS:C1859647", "MESH:C565934", "medgen:395313"], "information_content": 100.0}
{"id": "MONDO:0013508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 19, autosomal dominant", "equivalent_identifiers": ["MONDO:0013508", "OMIM:613969", "UMLS:C3151410", "medgen:462760"], "information_content": 100.0}
{"id": "MONDO:0014781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 29", "equivalent_identifiers": ["MONDO:0014781", "DOID:0111501", "OMIM:616811", "orphanet:478029", "UMLS:C5567607", "SNOMEDCT:1172843003", "medgen:1799030"], "information_content": 100.0}
{"id": "MONDO:0008302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central precocious puberty 1", "equivalent_identifiers": ["MONDO:0008302", "DOID:0112310", "OMIM:176400", "UMLS:C3805879", "medgen:812209"], "information_content": 100.0}
{"id": "HP:0008236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Isosexual precocious puberty", "equivalent_identifiers": ["HP:0008236", "UMLS:C0271528", "SNOMEDCT:4294006"], "information_content": 100.0}
{"id": "MONDO:0032942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly and dysmorphic facies", "equivalent_identifiers": ["MONDO:0032942", "OMIM:618828", "orphanet:662179", "UMLS:C5394218", "medgen:1719418"], "information_content": 100.0}
{"id": "MONDO:0007047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "punctate palmoplantar keratoderma type III", "equivalent_identifiers": ["MONDO:0007047", "DOID:0060362", "OMIM:101850", "orphanet:38", "EFO:1000758", "UMLS:C0545044", "MESH:C535653", "SNOMEDCT:111029001", "medgen:107467"], "information_content": 100.0}
{"id": "MONDO:0009274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ghosal hematodiaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0009274", "DOID:0112251", "OMIM:231095", "orphanet:1802", "UMLS:C1856465", "MESH:C565551", "SNOMEDCT:389214003", "medgen:344739"], "information_content": 100.0}
{"id": "MONDO:0005272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelodysplastic syndrome with single lineage dysplasia", "equivalent_identifiers": ["MONDO:0005272", "orphanet:98826", "EFO:0003802", "UMLS:C0002893", "UMLS:C2826318", "MESH:D000753", "MEDDRA:10002311", "MEDDRA:10038269", "MEDDRA:10038273", "MEDDRA:10055722", "MEDDRA:10072684", "MEDDRA:10088025", "NCIT:C2872", "NCIT:C82591", "SNOMEDCT:109996008", "SNOMEDCT:1153345005", "SNOMEDCT:128845005", "medgen:415300", "icd11.foundation:149518956", "HP:0005505"], "information_content": 90.9}
{"id": "MONDO:0010778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cyclic vomiting syndrome", "equivalent_identifiers": ["MONDO:0010778", "OMIM:500007", "UMLS:C0152164", "UMLS:C1838991", "UMLS:C1838992", "MESH:C536228", "MESH:C564022", "MESH:C564023", "MEDDRA:10062937", "NCIT:C117014", "SNOMEDCT:18773000", "medgen:57509", "icd11.foundation:1434288855"], "information_content": 100.0}
{"id": "MONDO:0013997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal facial dermal dysplasia type IV", "equivalent_identifiers": ["MONDO:0013997", "OMIM:614974", "orphanet:398189", "UMLS:C3554246", "SNOMEDCT:789161001", "medgen:767160"], "information_content": 100.0}
{"id": "MONDO:0010634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "jaundice, familial obstructive, of infancy", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010634", "OMIM:308600", "UMLS:C1839927", "MESH:C564118", "medgen:326992"], "information_content": 95.4}
{"id": "MONDO:0957301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 84", "equivalent_identifiers": ["MONDO:0957301", "DOID:0070583", "OMIM:620409", "UMLS:C5830562", "medgen:1841198"], "information_content": 100.0}
{"id": "MONDO:0020785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "capillary malformation-arteriovenous malformation 2", "equivalent_identifiers": ["MONDO:0020785", "OMIM:618196", "UMLS:C4748670", "medgen:1648502"], "information_content": 100.0}
{"id": "MONDO:0015196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vein of Galen aneurysm", "equivalent_identifiers": ["MONDO:0015196", "orphanet:1053", "UMLS:C0431420", "UMLS:C1562503", "MESH:C536535", "MESH:D054080", "MEDDRA:10077889", "NCIT:C98642", "SNOMEDCT:253194008", "SNOMEDCT:416792008", "medgen:140912", "icd11.foundation:1884295064", "HP:0030713"], "information_content": 100.0}
{"id": "MONDO:0976236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment", "equivalent_identifiers": ["MONDO:0976236", "OMIM:301142"], "information_content": 100.0}
{"id": "HP:0032506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alien limb phenomenon", "equivalent_identifiers": ["HP:0032506", "EFO:1001261", "UMLS:C0520958", "MEDDRA:10070883", "SNOMEDCT:62732009", "MESH:D055964"], "information_content": 100.0}
{"id": "HP:0030904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myerson's sign", "equivalent_identifiers": ["HP:0030904", "UMLS:C4293666", "UMLS:C4293678"], "information_content": 100.0}
{"id": "MONDO:0010953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group E", "equivalent_identifiers": ["MONDO:0010953", "DOID:0111084", "OMIM:600901", "UMLS:C3160739", "NCIT:C125709", "medgen:463628"], "information_content": 92.8}
{"id": "HP:0003214", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged G2 phase of cell cycle", "equivalent_identifiers": ["HP:0003214", "UMLS:C4025639"], "information_content": 100.0}
{"id": "MONDO:0014524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 47", "equivalent_identifiers": ["MONDO:0014524", "DOID:0081211", "OMIM:616193", "UMLS:C4015444", "medgen:863881"], "information_content": 100.0}
{"id": "MONDO:0032923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 28", "equivalent_identifiers": ["MONDO:0032923", "DOID:0070409", "OMIM:618800", "UMLS:C5394101", "medgen:1712568"], "information_content": 100.0}
{"id": "MONDO:0011069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction", "equivalent_identifiers": ["MONDO:0011069", "OMIM:601389", "UMLS:C1832391", "MESH:C538072", "medgen:318617"], "information_content": 100.0}
{"id": "HP:0008635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary bladder wall hypertrophy", "equivalent_identifiers": ["HP:0008635", "UMLS:C0268855", "UMLS:C4021531", "MEDDRA:10063408", "SNOMEDCT:111410004"], "information_content": 100.0}
{"id": "MONDO:0013502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, primary localized cutaneous, 2", "equivalent_identifiers": ["MONDO:0013502", "DOID:0080931", "OMIM:613955", "UMLS:C3151404", "medgen:462754"], "information_content": 100.0}
{"id": "MONDO:0957249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 82", "equivalent_identifiers": ["MONDO:0957249", "DOID:0070581", "OMIM:620353", "UMLS:C5830468", "medgen:1841104"], "information_content": 100.0}
{"id": "MONDO:0014795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exercise intolerance, riboflavin-responsive", "equivalent_identifiers": ["MONDO:0014795", "OMIM:616839", "UMLS:C4225187", "medgen:896368"], "information_content": 100.0}
{"id": "MONDO:0010283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Lubs type", "equivalent_identifiers": ["MONDO:0010283", "DOID:0060799", "OMIM:300260", "orphanet:1762", "UMLS:C1846058", "MESH:C537723", "NCIT:C126747", "SNOMEDCT:702816000", "medgen:337496"], "information_content": 92.8}
{"id": "HP:0031473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anger", "equivalent_identifiers": ["HP:0031473"], "information_content": 100.0}
{"id": "MONDO:0014521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy type 7", "equivalent_identifiers": ["MONDO:0014521", "DOID:0111447", "OMIM:616187", "orphanet:435438", "UMLS:C4015420", "MEDDRA:10089657", "NCIT:C142804", "SNOMEDCT:1208939001", "medgen:863857"], "information_content": 100.0}
{"id": "MONDO:0009909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progesterone resistance", "equivalent_identifiers": ["MONDO:0009909", "OMIM:264080", "UMLS:C1849699", "MESH:C564871", "medgen:337889"], "information_content": 100.0}
{"id": "MONDO:0011668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MODY, Type 6", "equivalent_identifiers": ["MONDO:0011668", "DOID:0111104", "OMIM:606394", "UMLS:C1853371", "MESH:C565231", "NCIT:C129745", "SNOMEDCT:609573005", "medgen:344030"], "information_content": 100.0}
{"id": "MONDO:0008292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "punctate palmoplantar keratoderma type 2", "equivalent_identifiers": ["MONDO:0008292", "DOID:0080213", "OMIM:175860", "orphanet:79502", "UMLS:C1867982", "MESH:C536338", "SNOMEDCT:765096001", "medgen:356886"], "information_content": 100.0}
{"id": "HP:0007613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinous keratoses of palms and soles", "equivalent_identifiers": ["HP:0007613", "UMLS:C4024830"], "information_content": 100.0}
{"id": "MONDO:0009008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart defect - tongue hamartoma - polysyndactyly syndrome", "equivalent_identifiers": ["MONDO:0009008", "DOID:0111591", "OMIM:217085", "orphanet:1338", "UMLS:C1857587", "UMLS:C2931046", "MESH:C535849", "MESH:C537137", "SNOMEDCT:783738002", "medgen:341804"], "information_content": 100.0}
{"id": "MONDO:0011581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "equivalent_identifiers": ["MONDO:0011581", "DOID:0090128", "OMIM:605676", "orphanet:65282", "UMLS:C1854063", "MESH:C535581", "SNOMEDCT:719835006", "medgen:340124"], "information_content": 95.4}
{"id": "HP:0025524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmoplantar scaling skin", "equivalent_identifiers": ["HP:0025524", "UMLS:C4476827", "UMLS:C4476828"], "information_content": 100.0}
{"id": "MONDO:0014196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hartsfield-Bixler-Demyer syndrome", "equivalent_identifiers": ["MONDO:0014196", "OMIM:615465", "orphanet:2117", "UMLS:C1845146", "MESH:C564484", "SNOMEDCT:766032007", "medgen:335111"], "information_content": 100.0}
{"id": "MONDO:0011073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus, transient neonatal, 1", "equivalent_identifiers": ["MONDO:0011073", "OMIM:601410", "orphanet:99886", "UMLS:C1832386", "MESH:C563322", "NCIT:C131846", "SNOMEDCT:609579009", "medgen:371317"], "information_content": 100.0}
{"id": "MONDO:0012703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lissencephaly 3", "equivalent_identifiers": ["MONDO:0012703", "OMIM:611603", "orphanet:171680", "UMLS:C4305153", "MESH:C566908", "NCIT:C148461", "SNOMEDCT:718759003", "medgen:930822"], "information_content": 100.0}
{"id": "HP:0032389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periventricular laminar heterotopia", "equivalent_identifiers": ["HP:0032389", "UMLS:C2678104", "MESH:C548481"], "information_content": 100.0}
{"id": "MONDO:0014998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 3, primary congenital, E", "equivalent_identifiers": ["MONDO:0014998", "OMIM:617272", "UMLS:C4310639", "medgen:934606"], "information_content": 100.0}
{"id": "MONDO:0029138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 67", "equivalent_identifiers": ["MONDO:0029138", "DOID:0112203", "OMIM:618141", "UMLS:C4748341", "medgen:1648285"], "information_content": 100.0}
{"id": "MONDO:0044721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to LAT deficiency", "equivalent_identifiers": ["MONDO:0044721", "DOID:0111983", "OMIM:617514", "orphanet:504523", "UMLS:C4479588", "SNOMEDCT:1179284005", "medgen:1384124"], "information_content": 100.0}
{"id": "HP:0500270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased gamma-delta T cell proportion", "equivalent_identifiers": ["HP:0500270", "UMLS:C5398019"], "information_content": 95.4}
{"id": "MONDO:0971007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroocular syndrome 1", "equivalent_identifiers": ["MONDO:0971007", "OMIM:619539", "orphanet:659904", "UMLS:C5925133", "medgen:1863661"], "information_content": 100.0}
{"id": "MONDO:0007426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, unilateral", "equivalent_identifiers": ["MONDO:0007426", "OMIM:125000", "UMLS:C2607947", "MESH:C567079", "MEDDRA:10048812", "MEDDRA:10048876", "SNOMEDCT:162342008", "medgen:435850", "HP:0009900"], "information_content": 100.0}
{"id": "MONDO:0005466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypersomnia", "equivalent_identifiers": ["MONDO:0005466", "EFO:0005246", "UMLS:C0917799", "MEDDRA:10020765", "MEDDRA:10041000", "NCIT:C78346", "SNOMEDCT:77692006", "medgen:214588", "HP:0100786"], "information_content": 89.4}
{"id": "HP:0001088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Speckled iris", "equivalent_identifiers": ["HP:0001088", "UMLS:C1303007", "UMLS:C4280604", "SNOMEDCT:400960002"], "information_content": 100.0}
{"id": "MONDO:0020355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lens coloboma", "equivalent_identifiers": ["MONDO:0020355", "orphanet:98943", "UMLS:C0344516", "SNOMEDCT:204134008", "medgen:451043", "icd11.foundation:1368271881", "HP:0100719"], "information_content": 100.0}
{"id": "HP:0500204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF arginine concentration", "equivalent_identifiers": ["HP:0500204", "UMLS:C5139589"], "information_content": 100.0}
{"id": "HP:0500208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF lysine concentration", "equivalent_identifiers": ["HP:0500208", "UMLS:C5139593"], "information_content": 100.0}
{"id": "HP:6000270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF saccharopine concentration", "equivalent_identifiers": ["HP:6000270", "UMLS:C5937083"], "information_content": 100.0}
{"id": "MONDO:0800447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bleeding disorder, platelet-type, 13, susceptibility to", "equivalent_identifiers": ["MONDO:0800447", "OMIM:614009", "UMLS:C3279614", "medgen:481244"], "information_content": 100.0}
{"id": "HP:0011894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired thromboxane A2 agonist-induced platelet aggregation", "equivalent_identifiers": ["HP:0011894", "UMLS:C4023141"], "information_content": 100.0}
{"id": "MONDO:0007555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 5A, Ogna type", "equivalent_identifiers": ["MONDO:0007555", "DOID:0060736", "OMIM:131950", "orphanet:79401", "UMLS:C0432317", "MESH:C535962", "SNOMEDCT:398071000", "medgen:98488"], "information_content": 100.0}
{"id": "HP:0007585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin fragility with non-scarring blistering", "equivalent_identifiers": ["HP:0007585", "UMLS:C1851562"], "information_content": 100.0}
{"id": "MONDO:0020715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple system atrophy 1, susceptibility to", "equivalent_identifiers": ["MONDO:0020715", "OMIM:146500", "UMLS:C3714927", "medgen:811503"], "information_content": 100.0}
{"id": "MONDO:0008687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Woronets trait", "equivalent_identifiers": ["MONDO:0008687", "OMIM:194320", "UMLS:C1860237", "medgen:348570"], "information_content": 100.0}
{"id": "HP:0005540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Red blood cell keratocytosis", "equivalent_identifiers": ["HP:0005540", "UMLS:C4021635"], "information_content": 100.0}
{"id": "MONDO:0032565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia, external, with rib and vertebral anomalies", "equivalent_identifiers": ["MONDO:0032565", "OMIM:618155", "UMLS:C4748418", "medgen:1648445"], "information_content": 100.0}
{"id": "HP:0012366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basilar invagination", "equivalent_identifiers": ["HP:0012366", "UMLS:C3887851", "MEDDRA:10057132"], "information_content": 100.0}
{"id": "MONDO:0013073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, nonepidermolytic, focal 1", "equivalent_identifiers": ["MONDO:0013073", "DOID:0111709", "OMIM:613000", "UMLS:C4552049", "medgen:1644485"], "information_content": 100.0}
{"id": "NCBIGene:3045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBD", "equivalent_identifiers": ["NCBIGene:3045", "ENSEMBL:ENSG00000223609", "HGNC:4829", "OMIM:142000", "UMLS:C1415483", "UniProtKB:A0N071", "UniProtKB:P02042", "PR:P02042", "ENSEMBL:ENSP00000494708", "ENSEMBL:ENSP00000494708.1", "ENSEMBL:ENSP00000497529", "ENSEMBL:ENSP00000497529.1", "UMLS:C0011244"], "information_content": 92.8}
{"id": "HP:0005560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Imbalanced hemoglobin synthesis", "equivalent_identifiers": ["HP:0005560", "UMLS:C4025177"], "information_content": 92.8}
{"id": "MONDO:0014198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 13", "equivalent_identifiers": ["MONDO:0014198", "DOID:0080131", "OMIM:615471", "orphanet:369897", "UMLS:C3809592", "NCIT:C172095", "SNOMEDCT:765403009", "medgen:815922"], "information_content": 92.8}
{"id": "HP:0030059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitochondrial depletion", "equivalent_identifiers": ["HP:0030059", "UMLS:C4022659"], "information_content": 90.9}
{"id": "HP:0011427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged fetal cisterna magna", "equivalent_identifiers": ["HP:0011427", "UMLS:C4023365", "MEDDRA:10081422", "MEDDRA:10081423"], "information_content": 100.0}
{"id": "HP:0034648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine fumaric acid level", "equivalent_identifiers": ["HP:0034648", "UMLS:C5826557"], "information_content": 100.0}
{"id": "MONDO:0031008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 24", "equivalent_identifiers": ["MONDO:0031008", "OMIM:619263", "orphanet:567548", "UMLS:C5543267", "medgen:1781068"], "information_content": 100.0}
{"id": "OMIM:613028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GLIOMA SUSCEPTIBILITY 2", "equivalent_identifiers": ["OMIM:613028", "UMLS:C2751642"]}
{"id": "MONDO:0012868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to protein S deficiency, autosomal dominant", "equivalent_identifiers": ["MONDO:0012868", "DOID:0111900", "OMIM:612336", "orphanet:26349", "UMLS:C2363755", "UMLS:C3278211", "MESH:C567077", "MEDDRA:10068370", "SNOMEDCT:1217409009", "medgen:479841"], "information_content": 100.0}
{"id": "MONDO:0011415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 3", "equivalent_identifiers": ["MONDO:0011415", "DOID:0110331", "OMIM:604232", "UMLS:C1858677", "MESH:C565814", "medgen:346964"], "information_content": 100.0}
{"id": "MONDO:0013529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia 3", "equivalent_identifiers": ["MONDO:0013529", "DOID:0060677", "OMIM:614021", "UMLS:C3151463", "NCIT:C189278", "medgen:462813"], "information_content": 100.0}
{"id": "MONDO:0957279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auditory neuropathy, autosomal dominant 2", "equivalent_identifiers": ["MONDO:0957279", "OMIM:620384", "UMLS:C5830542", "medgen:1841178"], "information_content": 100.0}
{"id": "HP:0001963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal speech discrimination", "equivalent_identifiers": ["HP:0001963", "UMLS:C1836752"], "information_content": 100.0}
{"id": "MONDO:0012451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophagitis, eosinophilic, 1", "equivalent_identifiers": ["MONDO:0012451", "OMIM:610247", "UMLS:C4551589", "medgen:1634032"], "information_content": 100.0}
{"id": "HP:0410019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epigastric pain", "equivalent_identifiers": ["HP:0410019", "NCIT:C168379", "UMLS:C0232493", "MEDDRA:10015014", "MEDDRA:10015026", "MEDDRA:10033394", "MEDDRA:10048944", "SNOMEDCT:79922009"], "information_content": 100.0}
{"id": "MONDO:0014715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection", "equivalent_identifiers": ["MONDO:0014715", "DOID:0111975", "OMIM:616636", "orphanet:431166", "UMLS:C4225260", "medgen:904009"], "information_content": 100.0}
{"id": "HP:0040204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF neopterin level", "equivalent_identifiers": ["HP:0040204", "UMLS:C4073152"], "information_content": 100.0}
{"id": "MONDO:0027407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome 1", "equivalent_identifiers": ["MONDO:0027407", "DOID:0060352", "OMIM:610253", "UMLS:C0795833", "MESH:C563043", "NCIT:C129976", "SNOMEDCT:724207001", "medgen:208639"], "information_content": 95.4}
{"id": "MONDO:0014710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency", "equivalent_identifiers": ["MONDO:0014710", "DOID:0111940", "OMIM:616622", "orphanet:477857", "UMLS:C5567647", "SNOMEDCT:1172892009", "medgen:1799070"], "information_content": 100.0}
{"id": "HP:0011370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent cutaneous fungal infections", "equivalent_identifiers": ["HP:0011370", "UMLS:C4023394"], "information_content": 89.4}
{"id": "MONDO:0013515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 6", "equivalent_identifiers": ["MONDO:0013515", "DOID:0110350", "OMIM:613982", "UMLS:C3279564", "MESH:C536047", "medgen:481194"], "information_content": 100.0}
{"id": "HP:0033154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating deoxypyridinoline concentration", "equivalent_identifiers": ["HP:0033154", "UMLS:C5421645"], "information_content": 100.0}
{"id": "MONDO:0010046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 23", "equivalent_identifiers": ["MONDO:0010046", "DOID:0110774", "OMIM:270750", "orphanet:101003", "UMLS:C0796019", "MESH:C536859", "SNOMEDCT:726608002", "medgen:167094"], "information_content": 100.0}
{"id": "HP:0005586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpigmentation in sun-exposed areas", "equivalent_identifiers": ["HP:0005586", "UMLS:C3805877"], "information_content": 95.4}
{"id": "HP:0004771", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature graying of body hair", "equivalent_identifiers": ["HP:0004771", "UMLS:C1849125"], "information_content": 100.0}
{"id": "MONDO:0012906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 9", "equivalent_identifiers": ["MONDO:0012906", "DOID:0110622", "OMIM:612444", "UMLS:C2676235", "MESH:C567310", "medgen:390990"], "information_content": 100.0}
{"id": "MONDO:0008538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "temporal arteritis", "equivalent_identifiers": ["MONDO:0008538", "DOID:13375", "OMIM:187360", "orphanet:397", "EFO:1001209", "UMLS:C0039483", "UMLS:C1956390", "UMLS:C1956391", "MESH:D013700", "MEDDRA:10011303", "MEDDRA:10018250", "MEDDRA:10020395", "MEDDRA:10020396", "MEDDRA:10043207", "NCIT:C35065", "SNOMEDCT:400130008", "SNOMEDCT:414341000", "medgen:365495", "icd11.foundation:1929970386", "ICD9:446.5"], "information_content": 95.4}
{"id": "HP:0008030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal arteritis", "equivalent_identifiers": ["HP:0008030", "UMLS:C0271069", "SNOMEDCT:11255009"], "information_content": 100.0}
{"id": "MONDO:0013537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 29", "equivalent_identifiers": ["MONDO:0013537", "DOID:0110487", "OMIM:614035", "UMLS:C3279660", "medgen:481290"], "information_content": 100.0}
{"id": "MONDO:0013885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malan overgrowth syndrome", "equivalent_identifiers": ["MONDO:0013885", "DOID:0112102", "OMIM:614753", "orphanet:420179", "UMLS:C3553660", "SNOMEDCT:763795006", "medgen:766574"], "information_content": 100.0}
{"id": "HP:0430029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplasia of the premaxilla", "equivalent_identifiers": ["HP:0430029", "UMLS:C4073210"], "information_content": 100.0}
{"id": "MONDO:0020735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACTH-independent macronodular adrenal hyperplasia 1", "equivalent_identifiers": ["MONDO:0020735", "DOID:0111623", "OMIM:219080", "UMLS:C1857451", "medgen:347456"], "information_content": 100.0}
{"id": "HP:0008231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macronodular adrenal hyperplasia", "equivalent_identifiers": ["HP:0008231", "NCIT:C127166", "UMLS:C0342495", "SNOMEDCT:237778003"], "information_content": 95.4}
{"id": "MONDO:0011079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic dysplasia, Patterson-Lowry type", "equivalent_identifiers": ["MONDO:0011079", "OMIM:601438", "orphanet:2831", "UMLS:C1832359", "MESH:C537609", "SNOMEDCT:715505002", "medgen:321940", "icd11.foundation:1681747199"], "information_content": 100.0}
{"id": "HP:0005687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed humeral heads", "equivalent_identifiers": ["HP:0005687", "UMLS:C4025154"], "information_content": 100.0}
{"id": "MONDO:0012515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 1, open angle, M", "equivalent_identifiers": ["MONDO:0012515", "OMIM:610535", "UMLS:C1864653", "MESH:C566436", "medgen:400584"], "information_content": 100.0}
{"id": "MONDO:0008005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiospondylocarpofacial syndrome", "equivalent_identifiers": ["MONDO:0008005", "OMIM:157800", "orphanet:3238", "UMLS:C2931461", "MESH:C537269", "MESH:C563572", "NCIT:C188216", "SNOMEDCT:720612000", "medgen:444060"], "information_content": 100.0}
{"id": "HP:0008441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epiphysiolysis", "equivalent_identifiers": ["HP:0008441", "EFO:1001317", "EFO:1001800", "NCIT:C118382", "UMLS:C0014571", "UMLS:C0021818", "UMLS:C1832597", "MEDDRA:10015079", "MEDDRA:10022636", "MEDDRA:10022638", "MEDDRA:10036849", "MEDDRA:10041026", "MEDDRA:10048856", "MEDDRA:10050296", "MEDDRA:10050330", "MEDDRA:10067104", "MEDDRA:10078023", "SNOMEDCT:1145241008", "SNOMEDCT:73589001", "MESH:D004839", "MESH:D007405"], "information_content": 100.0}
{"id": "HP:0005278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic nasal tip", "equivalent_identifiers": ["HP:0005278", "UMLS:C1844731", "UMLS:C4280496", "UMLS:C4280497"], "information_content": 100.0}
{"id": "MONDO:0007358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "comedones, familial Dyskeratotic", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007358", "OMIM:120450", "UMLS:C0345424", "MESH:C562838", "SNOMEDCT:254219004", "medgen:138018"], "information_content": 100.0}
{"id": "MONDO:0008808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aplasia cutis congenita-intestinal lymphangiectasia syndrome", "equivalent_identifiers": ["MONDO:0008808", "OMIM:207731", "orphanet:1116", "UMLS:C1859753", "UMLS:C4304031", "MESH:C537788", "SNOMEDCT:720500008", "medgen:349241"], "information_content": 100.0}
{"id": "HP:0000245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal paranasal sinus morphology", "equivalent_identifiers": ["HP:0000245", "UMLS:C4025873"], "information_content": 78.0}
{"id": "MONDO:0011148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spondylospinal thoracic dysostosis", "equivalent_identifiers": ["MONDO:0011148", "OMIM:601809", "UMLS:C1866184", "MESH:C566622", "medgen:400937"], "information_content": 100.0}
{"id": "MONDO:0012579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune pulmonary alveolar proteinosis", "equivalent_identifiers": ["MONDO:0012579", "OMIM:610910", "orphanet:747", "UMLS:C1970472", "MESH:C567049", "MEDDRA:10078788", "NCIT:C202011", "SNOMEDCT:707443007", "medgen:410079", "icd11.foundation:676409940"], "information_content": 100.0}
{"id": "MONDO:0032723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 60", "equivalent_identifiers": ["MONDO:0032723", "DOID:0111954", "OMIM:618394", "UMLS:C5193072", "medgen:1681890"], "information_content": 100.0}
{"id": "HP:0031808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased total basophil count", "equivalent_identifiers": ["HP:0031808", "UMLS:C0855987", "MEDDRA:10004167"], "information_content": 92.8}
{"id": "MONDO:0030969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 68", "equivalent_identifiers": ["MONDO:0030969", "DOID:0061041", "OMIM:619934", "UMLS:C5677008", "medgen:1802176"], "information_content": 100.0}
{"id": "MONDO:0012986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral parasagittal parieto-occipital polymicrogyria", "equivalent_identifiers": ["MONDO:0012986", "DOID:0080923", "OMIM:612691", "orphanet:208441", "UMLS:C2675191", "UMLS:C4013648", "MESH:C567201", "medgen:862085", "icd11.foundation:293410499"], "information_content": 100.0}
{"id": "MONDO:0011233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axenfeld-Rieger syndrome type 3", "equivalent_identifiers": ["MONDO:0011233", "DOID:0110122", "OMIM:602482", "UMLS:C2678503", "SNOMEDCT:22155002", "medgen:394534"], "information_content": 100.0}
{"id": "MONDO:0859325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 109", "equivalent_identifiers": ["MONDO:0859325", "DOID:0070378", "OMIM:620145", "UMLS:C5774263", "medgen:1824036"], "information_content": 100.0}
{"id": "HP:0025682", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crouch gait", "equivalent_identifiers": ["HP:0025682", "UMLS:C0427143", "SNOMEDCT:250016005"], "information_content": 100.0}
{"id": "MONDO:0020724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cavernous malformation 1", "equivalent_identifiers": ["MONDO:0020724", "DOID:0080491", "OMIM:116860", "UMLS:C1366911", "UMLS:C1861785", "UMLS:C1861786", "MESH:C566152", "MESH:C566153", "medgen:237128"], "information_content": 100.0}
{"id": "HP:0006576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic vascular malformations", "equivalent_identifiers": ["HP:0006576", "UMLS:C1861790"], "information_content": 100.0}
{"id": "HP:0007797", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal vascular malformation", "equivalent_identifiers": ["HP:0007797", "UMLS:C1861791"], "information_content": 95.4}
{"id": "MONDO:0010243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked immunoneurologic disorder", "equivalent_identifiers": ["MONDO:0010243", "OMIM:300076", "orphanet:2571", "UMLS:C1848144", "MESH:C536743", "SNOMEDCT:719827008", "medgen:341162", "icd11.foundation:1464555617"], "information_content": 100.0}
{"id": "HP:0000009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Functional abnormality of the bladder", "equivalent_identifiers": ["HP:0000009", "UMLS:C3806583"], "information_content": 76.2}
{"id": "MONDO:0013815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bent bone dysplasia syndrome 1", "equivalent_identifiers": ["MONDO:0013815", "DOID:0060992", "OMIM:614592", "orphanet:313855", "UMLS:C3281247", "medgen:482877"], "information_content": 100.0}
{"id": "HP:0034530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bent long bone", "equivalent_identifiers": ["HP:0034530", "UMLS:C5826454"], "information_content": 100.0}
{"id": "MONDO:0010236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 14", "equivalent_identifiers": ["MONDO:0010236", "DOID:0112027", "OMIM:300062", "UMLS:C0796220", "MESH:C537454", "medgen:163231"], "information_content": 100.0}
{"id": "MONDO:0859256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with language delay and seizures", "equivalent_identifiers": ["MONDO:0859256", "DOID:0070444", "OMIM:619908", "UMLS:C5676998", "medgen:1805816"], "information_content": 100.0}
{"id": "MONDO:0012408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with coloboma 3", "equivalent_identifiers": ["MONDO:0012408", "OMIM:610092", "UMLS:C1864721", "UMLS:C1864722", "MESH:C566447", "MESH:C566448", "medgen:400598"], "information_content": 100.0}
{"id": "MONDO:0019148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolman disease", "equivalent_identifiers": ["MONDO:0019148", "DOID:14497", "OMIM:620151", "orphanet:75233", "UMLS:C0043208", "UMLS:C5574741", "MESH:C564736", "MESH:D015223", "MEDDRA:10053687", "NCIT:C61271", "SNOMEDCT:238074007", "SNOMEDCT:82500001", "medgen:53088", "icd11.foundation:520367511"], "information_content": 100.0}
{"id": "MONDO:0008196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parastremmatic dwarfism", "equivalent_identifiers": ["MONDO:0008196", "DOID:0111539", "OMIM:168400", "UMLS:C1868616", "MESH:C537172", "SNOMEDCT:722210007", "medgen:358366", "icd11.foundation:431936114"], "information_content": 100.0}
{"id": "MONDO:0054550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "avascular necrosis of femoral head, primary, 1", "equivalent_identifiers": ["MONDO:0054550", "OMIM:608805", "UMLS:C0410480", "UMLS:C4551562", "MEDDRA:10003860", "NCIT:C35447", "SNOMEDCT:203476003", "medgen:1639295"], "information_content": 100.0}
{"id": "HP:0031520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Groin pain", "equivalent_identifiers": ["HP:0031520", "UMLS:C0239783", "MEDDRA:10018735", "MEDDRA:10033403", "MEDDRA:10077184", "SNOMEDCT:102570003"], "information_content": 100.0}
{"id": "MONDO:0044328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 20 with polydactyly", "equivalent_identifiers": ["MONDO:0044328", "OMIM:617925", "UMLS:C4693616", "medgen:1634931"], "information_content": 100.0}
{"id": "HP:0005285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent nasal bridge", "equivalent_identifiers": ["HP:0005285", "UMLS:C1837888"], "information_content": 100.0}
{"id": "HP:0004491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large posterior fontanelle", "equivalent_identifiers": ["HP:0004491", "UMLS:C1855233"], "information_content": 95.4}
{"id": "MONDO:0010720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lubs syndrome", "equivalent_identifiers": ["MONDO:0010720", "DOID:0080776", "OMIM:312300", "orphanet:90797", "UMLS:C0268301", "UMLS:C2931847", "MESH:C538435", "MEDDRA:10038289", "NCIT:C120192", "SNOMEDCT:122811000119101", "medgen:82785"], "information_content": 100.0}
{"id": "MONDO:0007442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentinogenesis imperfecta type 3", "equivalent_identifiers": ["MONDO:0007442", "OMIM:125500", "orphanet:166265", "UMLS:C0399378", "MESH:C538216", "SNOMEDCT:234970006", "medgen:97995", "icd11.foundation:518257495"], "information_content": 100.0}
{"id": "MONDO:0006897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radicular Cyst", "equivalent_identifiers": ["MONDO:0006897", "DOID:4617", "EFO:1001096", "UMLS:C0031029", "UMLS:C0031087", "UMLS:C0034543", "UMLS:C0600297", "UMLS:C1852169", "UMLS:C4280609", "MESH:D010484", "MESH:D010509", "MESH:D011842", "MEDDRA:10037776", "MEDDRA:10037777", "MEDDRA:10060983", "MEDDRA:10060984", "MEDDRA:10060985", "MEDDRA:10068114", "MEDDRA:10075995", "NCIT:C173828", "NCIT:C173829", "NCIT:C4865", "SNOMEDCT:3797007", "SNOMEDCT:81407003", "SNOMEDCT:89988002", "medgen:45395", "HP:0000700"], "information_content": 92.8}
{"id": "MONDO:0009577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalocornea-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0009577", "OMIM:249310", "orphanet:2479", "UMLS:C0796086", "MESH:C536143", "SNOMEDCT:733522005", "medgen:162904"], "information_content": 100.0}
{"id": "MONDO:0007918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "equivalent_identifiers": ["MONDO:0007918", "DOID:0060349", "OMIM:152950", "orphanet:2526", "UMLS:C1835265", "MESH:C537711", "medgen:320559"], "information_content": 100.0}
{"id": "HP:0007731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal dysplasia", "equivalent_identifiers": ["HP:0007731", "UMLS:C4024809"], "information_content": 100.0}
{"id": "MONDO:0012290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CEDNIK syndrome", "equivalent_identifiers": ["MONDO:0012290", "DOID:0060337", "OMIM:609528", "orphanet:66631", "UMLS:C1836033", "MESH:C537943", "SNOMEDCT:722385008", "medgen:332113"], "information_content": 100.0}
{"id": "MONDO:0008188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillomatosis, confluent and reticulated", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008188", "OMIM:167900", "UMLS:C0263385", "MESH:C566832", "MEDDRA:10069414", "MEDDRA:10079643", "SNOMEDCT:89987007", "medgen:472991"], "information_content": 100.0}
{"id": "MONDO:0012081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "15q11q13 microduplication syndrome", "equivalent_identifiers": ["MONDO:0012081", "OMIM:608636", "orphanet:238446", "UMLS:C2675336", "UMLS:C3807826", "MESH:C557830", "NCIT:C126692", "SNOMEDCT:719427001", "medgen:390767"], "information_content": 100.0}
{"id": "MONDO:0032741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with impaired speech and hyperkinetic movements", "equivalent_identifiers": ["MONDO:0032741", "OMIM:618425", "UMLS:C5193088", "medgen:1681181"], "information_content": 100.0}
{"id": "MONDO:0032688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymicrogyria with or without vascular-type Ehlers-Danlos syndrome", "equivalent_identifiers": ["MONDO:0032688", "OMIM:618343", "orphanet:636941", "UMLS:C5193040", "medgen:1675672"], "information_content": 100.0}
{"id": "MONDO:0014899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "equivalent_identifiers": ["MONDO:0014899", "DOID:0111516", "OMIM:617070", "orphanet:329314", "UMLS:C4310733", "UMLS:C4518838", "SNOMEDCT:733599009", "medgen:934700"], "information_content": 100.0}
{"id": "MONDO:0009342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease-hearing loss-polydactyly syndrome", "equivalent_identifiers": ["MONDO:0009342", "OMIM:235740", "orphanet:2155", "UMLS:C1856112", "UMLS:C2931452", "MESH:C537235", "MESH:C565518", "SNOMEDCT:721221000", "medgen:341066"], "information_content": 100.0}
{"id": "MONDO:0008359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radio-renal syndrome", "equivalent_identifiers": ["MONDO:0008359", "OMIM:179280", "orphanet:3015", "UMLS:C1867396", "UMLS:C2931146", "MESH:C536267", "SNOMEDCT:766765009", "medgen:419723"], "information_content": 100.0}
{"id": "MONDO:0011116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung agenesis-heart defect-thumb anomalies syndrome", "equivalent_identifiers": ["MONDO:0011116", "OMIM:601612", "orphanet:1120", "UMLS:C2930988", "UMLS:C3275954", "UMLS:C4302918", "MESH:C535708", "SNOMEDCT:721976003", "medgen:477585"], "information_content": 100.0}
{"id": "HP:0100682", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tracheal atresia", "equivalent_identifiers": ["HP:0100682", "NCIT:C35754", "UMLS:C0265766", "MEDDRA:10054955", "SNOMEDCT:53189005"], "information_content": 100.0}
{"id": "MONDO:0009978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal degeneration-nanophthalmos-glaucoma syndrome", "equivalent_identifiers": ["MONDO:0009978", "OMIM:267760", "orphanet:1574", "UMLS:C2931831", "MESH:C538364", "SNOMEDCT:723503006", "medgen:444153"], "information_content": 100.0}
{"id": "MONDO:0013183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CSNB1C", "equivalent_identifiers": ["MONDO:0013183", "DOID:0110867", "OMIM:613216", "UMLS:C2750747", "MESH:C567704", "medgen:416373"], "information_content": 100.0}
{"id": "MONDO:0008596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichorhinophalangeal syndrome type I", "equivalent_identifiers": ["MONDO:0008596", "DOID:0080376", "DOID:14743", "OMIM:190350", "UMLS:C0432233", "MESH:C536820", "NCIT:C75109", "SNOMEDCT:254091006", "medgen:140929"], "information_content": 92.8}
{"id": "HP:0010252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ivory epiphyses of the distal phalanges of the hand", "equivalent_identifiers": ["HP:0010252", "UMLS:C4021301"], "information_content": 88.2}
{"id": "HP:0010270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the proximal phalanges of the hand", "equivalent_identifiers": ["HP:0010270", "UMLS:C4023931"], "information_content": 87.2}
{"id": "HP:0006253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Swelling of proximal interphalangeal joints", "equivalent_identifiers": ["HP:0006253", "UMLS:C1860841"], "information_content": 100.0}
{"id": "MONDO:0014300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal myopathy with extrapyramidal signs", "equivalent_identifiers": ["MONDO:0014300", "DOID:0111335", "OMIM:615673", "orphanet:401768", "UMLS:C3810285", "medgen:816615"], "information_content": 100.0}
{"id": "HP:0030235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extremely elevated creatine kinase", "equivalent_identifiers": ["HP:0030235", "UMLS:C4022564"], "information_content": 100.0}
{"id": "HP:0034051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic anterior limbs of the internal capsule", "equivalent_identifiers": ["HP:0034051", "UMLS:C5676651"], "information_content": 100.0}
{"id": "MONDO:0032699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 15", "equivalent_identifiers": ["MONDO:0032699", "OMIM:618357", "UMLS:C5193050", "NCIT:C179067", "medgen:1675524"], "information_content": 100.0}
{"id": "MONDO:0010151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricarboxylic acid cycle, defect of", "equivalent_identifiers": ["MONDO:0010151", "OMIM:275370", "UMLS:C1848746", "MESH:C564762", "medgen:376430"], "information_content": 100.0}
{"id": "HP:0004898", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent lactic acidosis", "equivalent_identifiers": ["HP:0004898", "UMLS:C3554538"], "information_content": 100.0}
{"id": "OMIM:601606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial multiple trichoepitheliomata", "equivalent_identifiers": ["OMIM:601606", "UMLS:C1275122", "NCIT:C205364", "SNOMEDCT:403825008"], "information_content": 92.8}
{"id": "MONDO:0010488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 100", "equivalent_identifiers": ["MONDO:0010488", "DOID:0112040", "OMIM:300923", "UMLS:C3890167", "medgen:855516"], "information_content": 100.0}
{"id": "MONDO:0032746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydatidiform mole, recurrent, 3", "equivalent_identifiers": ["MONDO:0032746", "OMIM:618431", "UMLS:C5193093", "medgen:1677775"], "information_content": 100.0}
{"id": "MONDO:0006248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydatidiform mole", "equivalent_identifiers": ["MONDO:0006248", "OMIM.PS:231090", "orphanet:99927", "EFO:1000298", "UMLS:C0020217", "UMLS:C0549315", "MESH:D006828", "MEDDRA:10004272", "MEDDRA:10020481", "MEDDRA:10020482", "MEDDRA:10020484", "MEDDRA:10065063", "NCIT:C3110", "SNOMEDCT:417044008", "SNOMEDCT:417271000", "SNOMEDCT:44782008", "medgen:9329", "icd11.foundation:946166369", "HP:0032192"], "information_content": 86.3}
{"id": "MONDO:0013309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 2p12-p11.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0013309", "DOID:0060414", "OMIM:613564", "UMLS:C3150804", "medgen:462154"], "information_content": 100.0}
{"id": "MONDO:0030529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 10, autosomal dominant", "equivalent_identifiers": ["MONDO:0030529", "DOID:0081142", "OMIM:619707", "UMLS:C5676900", "medgen:1806624"], "information_content": 100.0}
{"id": "HP:0410255", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transiently decreased total neutrophil count", "equivalent_identifiers": ["HP:0410255", "UMLS:C5139431"], "information_content": 95.4}
{"id": "MONDO:0011853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camptosynpolydactyly, complex", "equivalent_identifiers": ["MONDO:0011853", "OMIM:607539", "UMLS:C1843758", "MESH:C564383", "medgen:375276"], "information_content": 100.0}
{"id": "MONDO:0035651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "equivalent_identifiers": ["MONDO:0035651", "OMIM:620186", "orphanet:589856", "UMLS:C5680310", "SNOMEDCT:1281843005", "medgen:1830104"], "information_content": 100.0}
{"id": "MONDO:0032738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy", "equivalent_identifiers": ["MONDO:0032738", "OMIM:618419", "UMLS:C5193085", "medgen:1679397"], "information_content": 100.0}
{"id": "HP:0007892", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the lacrimal punctum", "equivalent_identifiers": ["HP:0007892", "UMLS:C4021564"], "information_content": 100.0}
{"id": "MONDO:0009182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Herlitz Disease", "equivalent_identifiers": ["MONDO:0009182", "DOID:0060737", "OMIM:226700", "orphanet:79404", "UMLS:C0079683", "SNOMEDCT:400140006", "medgen:36328", "ICD10:Q81.1"], "information_content": 100.0}
{"id": "MONDO:0014383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, tubular aggregate, 2", "equivalent_identifiers": ["MONDO:0014383", "DOID:0080686", "OMIM:615883", "UMLS:C4014557", "medgen:862994"], "information_content": 100.0}
{"id": "MONDO:0970952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 91", "equivalent_identifiers": ["MONDO:0970952", "DOID:0070590", "OMIM:620838", "UMLS:C5935623", "medgen:1862682"], "information_content": 100.0}
{"id": "MONDO:0033652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 17", "equivalent_identifiers": ["MONDO:0033652", "DOID:0070502", "OMIM:619061", "UMLS:C5436718", "medgen:1730423"], "information_content": 100.0}
{"id": "HP:0033369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cavitating leukodystrophy", "equivalent_identifiers": ["HP:0033369", "UMLS:C0270725"], "information_content": 100.0}
{"id": "MONDO:0014598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 31A", "equivalent_identifiers": ["MONDO:0014598", "DOID:0080437", "OMIM:616346", "UMLS:C4225357", "NCIT:C185237", "medgen:894942"], "information_content": 100.0}
{"id": "HP:0011151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical absence status epilepticus", "equivalent_identifiers": ["HP:0011151", "UMLS:C4023511", "SNOMEDCT:230458008"], "information_content": 100.0}
{"id": "MONDO:0033642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with alopecia and brain abnormalities", "equivalent_identifiers": ["MONDO:0033642", "OMIM:619075", "orphanet:544488", "UMLS:C5436741", "SNOMEDCT:1222658006", "medgen:1775930"], "information_content": 100.0}
{"id": "HP:0032471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal polymicrogyria", "equivalent_identifiers": ["HP:0032471", "UMLS:C5139365"], "information_content": 100.0}
{"id": "MONDO:0014391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to CTPS1 deficiency", "equivalent_identifiers": ["MONDO:0014391", "DOID:0111938", "OMIM:615897", "orphanet:420573", "UMLS:C4014617", "UMLS:C4706524", "SNOMEDCT:763623001", "medgen:863054"], "information_content": 100.0}
{"id": "HP:0032248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent viremia", "equivalent_identifiers": ["HP:0032248", "UMLS:C5139222"], "information_content": 92.8}
{"id": "HP:4000039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced mucosal-associated invariant T cell proportion", "equivalent_identifiers": ["HP:4000039", "UMLS:C5539885"], "information_content": 100.0}
{"id": "MONDO:0013649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 9", "equivalent_identifiers": ["MONDO:0013649", "DOID:0110706", "OMIM:614237", "UMLS:C3280252", "medgen:481882"], "information_content": 100.0}
{"id": "MONDO:0007274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpal bossing", "equivalent_identifiers": ["MONDO:0007274", "OMIM:115400", "UMLS:C1861847", "MEDDRA:10085887", "medgen:348468"], "information_content": 100.0}
{"id": "MONDO:0013305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 51", "equivalent_identifiers": ["MONDO:0013305", "DOID:0110577", "OMIM:613558", "UMLS:C3160736", "medgen:463625"], "information_content": 100.0}
{"id": "MONDO:0014632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 10", "equivalent_identifiers": ["MONDO:0014632", "DOID:0060788", "OMIM:616420", "UMLS:C4225332", "SNOMEDCT:1237421000", "medgen:904191"], "information_content": 100.0}
{"id": "MONDO:0012286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, autophagic vacuolar, infantile-onset", "equivalent_identifiers": ["MONDO:0012286", "OMIM:609500", "UMLS:C2931230", "medgen:419364"], "information_content": 100.0}
{"id": "MONDO:0008023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome", "equivalent_identifiers": ["MONDO:0008023", "OMIM:158500", "orphanet:2579", "UMLS:C0342281", "MESH:C562774", "SNOMEDCT:237611007", "medgen:137966"], "information_content": 100.0}
{"id": "MONDO:0859577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lacrimoauriculodentodigital syndrome 2", "equivalent_identifiers": ["MONDO:0859577", "DOID:0081371", "OMIM:620192", "UMLS:C5774286", "medgen:1824059"], "information_content": 100.0}
{"id": "MONDO:0060650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis with early-onset deafness", "equivalent_identifiers": ["MONDO:0060650", "DOID:0112240", "OMIM:617879", "UMLS:C4693498", "medgen:1646810"], "information_content": 100.0}
{"id": "MONDO:0859243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859243", "OMIM:619854", "UMLS:C5676975", "medgen:1812577"], "information_content": 100.0}
{"id": "MONDO:0010170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 3A", "equivalent_identifiers": ["MONDO:0010170", "DOID:0110841", "OMIM:276902", "UMLS:C5779850", "medgen:1830415"], "information_content": 100.0}
{"id": "MONDO:0011489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 12", "equivalent_identifiers": ["MONDO:0011489", "DOID:0110765", "OMIM:604805", "orphanet:100993", "UMLS:C1858106", "MESH:C537484", "SNOMEDCT:763374004", "medgen:347618"], "information_content": 100.0}
{"id": "MONDO:0008119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 1", "equivalent_identifiers": ["MONDO:0008119", "DOID:0050954", "OMIM:164400", "orphanet:98755", "UMLS:C0752120", "NCIT:C129982", "SNOMEDCT:715748006", "medgen:155703", "icd11.foundation:2071487961"], "information_content": 100.0}
{"id": "HP:0007006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dorsal column degeneration", "equivalent_identifiers": ["HP:0007006", "UMLS:C4024953"], "information_content": 100.0}
{"id": "MONDO:0010523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked reticulate pigmentary disorder", "equivalent_identifiers": ["MONDO:0010523", "DOID:0111834", "OMIM:301220", "orphanet:85453", "UMLS:C1845050", "MESH:C564461", "SNOMEDCT:717224002", "medgen:336844"], "information_content": 100.0}
{"id": "HP:0033253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating interferon gamma concentration", "equivalent_identifiers": ["HP:0033253", "UMLS:C5539459"], "information_content": 100.0}
{"id": "HP:0007599", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized reticulate brown pigmentation", "equivalent_identifiers": ["HP:0007599", "UMLS:C4024836"], "information_content": 100.0}
{"id": "MONDO:0007863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleine-Levin syndrome", "equivalent_identifiers": ["MONDO:0007863", "DOID:0060165", "OMIM:148840", "orphanet:33543", "EFO:1001354", "UMLS:C0206085", "MESH:D017593", "MEDDRA:10053712", "MEDDRA:10053742", "NCIT:C84800", "SNOMEDCT:111488004", "medgen:61511", "icd11.foundation:1180849398"], "information_content": 100.0}
{"id": "HP:0006803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vivid hallucination", "equivalent_identifiers": ["HP:0006803", "UMLS:C4024978"], "information_content": 100.0}
{"id": "MONDO:0004617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recurrent hypersomnia", "equivalent_identifiers": ["MONDO:0004617", "DOID:8619", "UMLS:C0020524", "UMLS:C0751226", "UMLS:C4024925", "MESH:D006970", "SNOMEDCT:194439006", "SNOMEDCT:426451004", "medgen:155520", "ICD10:G47.13", "ICD9:327.13", "HP:0007200"], "information_content": 81.7}
{"id": "MONDO:0009661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 6", "equivalent_identifiers": ["MONDO:0009661", "DOID:12800", "OMIM:253200", "orphanet:583", "UMLS:C0026709", "MESH:D009087", "MEDDRA:10056892", "MEDDRA:10056920", "NCIT:C61264", "SNOMEDCT:52677002", "SNOMEDCT:69463008", "medgen:44514", "icd11.foundation:1288379621"], "information_content": 92.8}
{"id": "HP:0034861", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced leukocyte arylsulfatase B activity", "equivalent_identifiers": ["HP:0034861", "UMLS:C5826716"], "information_content": 100.0}
{"id": "HP:0008432", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior wedging of L1", "equivalent_identifiers": ["HP:0008432", "UMLS:C4024677"], "information_content": 100.0}
{"id": "HP:0011941", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior wedging of L2", "equivalent_identifiers": ["HP:0011941", "UMLS:C4023114"], "information_content": 100.0}
{"id": "MONDO:0010476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 5", "equivalent_identifiers": ["MONDO:0010476", "DOID:0110739", "OMIM:300894", "orphanet:329284", "UMLS:C3550973", "NCIT:C175210", "SNOMEDCT:732959007", "medgen:763887"], "information_content": 100.0}
{"id": "MONDO:0030524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis, type 10", "equivalent_identifiers": ["MONDO:0030524", "DOID:0061128", "OMIM:619698", "orphanet:662216", "UMLS:C5562064", "medgen:1794274"], "information_content": 100.0}
{"id": "MONDO:0031045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, IIa 11", "equivalent_identifiers": ["MONDO:0031045", "OMIM:620019", "UMLS:C5774205", "medgen:1823978"], "information_content": 100.0}
{"id": "OMIM:606960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "INSULINOMA TUMOR SUPPRESSOR GENE LOCUS", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["OMIM:606960", "UMLS:C1847015"]}
{"id": "MONDO:0024677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "insulinoma", "equivalent_identifiers": ["MONDO:0024677", "DOID:3892", "UMLS:C0021670", "MESH:D007340", "MEDDRA:10022498", "NCIT:C95598", "SNOMEDCT:25324008", "SNOMEDCT:302822000", "medgen:43907", "HP:0012197"], "information_content": 92.8}
{"id": "MONDO:0030827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrothrombocytopenia, isolated, 2, autosomal dominant", "equivalent_identifiers": ["MONDO:0030827", "DOID:0060995", "OMIM:619840", "UMLS:C5676968", "medgen:1802965"], "information_content": 100.0}
{"id": "MONDO:0007439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deoxyribose-5-phosphate aldolase deficiency", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0007439", "OMIM:125460", "UMLS:C1852200", "MESH:C565112", "medgen:377617"], "information_content": 100.0}
{"id": "HP:0012379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating enzyme concentration or activity", "equivalent_identifiers": ["HP:0012379", "UMLS:C4022922", "UMLS:C5826351"], "information_content": 67.2}
{"id": "MONDO:0011408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 10", "equivalent_identifiers": ["MONDO:0011408", "DOID:0110763", "OMIM:604187", "orphanet:100991", "UMLS:C1858712", "MESH:C537482", "NCIT:C192058", "SNOMEDCT:732948003", "medgen:349003"], "information_content": 100.0}
{"id": "MONDO:0009575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thiamine-responsive megaloblastic anemia syndrome", "equivalent_identifiers": ["MONDO:0009575", "DOID:0090117", "OMIM:249270", "orphanet:49827", "UMLS:C0342287", "MESH:C536510", "SNOMEDCT:237617006", "medgen:83338"], "information_content": 100.0}
{"id": "HP:0004860", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thiamine-responsive megaloblastic anemia", "equivalent_identifiers": ["HP:0004860", "UMLS:C0271972", "SNOMEDCT:12907000"], "information_content": 100.0}
{"id": "MONDO:0011377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 3", "equivalent_identifiers": ["MONDO:0011377", "DOID:0110646", "OMIM:603830", "UMLS:C1838527", "UMLS:C1859062", "UMLS:C3276240", "MESH:C565840", "NCIT:C137959", "medgen:349087"], "information_content": 100.0}
{"id": "HP:0011841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventricular flutter", "equivalent_identifiers": ["HP:0011841", "NCIT:C50800", "UMLS:C0152173", "MEDDRA:10047294", "SNOMEDCT:111288001", "MESH:D054141"], "information_content": 100.0}
{"id": "MONDO:0014701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, Stanescu type", "equivalent_identifiers": ["MONDO:0014701", "DOID:0112281", "OMIM:616583", "orphanet:459051", "UMLS:C4225273", "SNOMEDCT:1228860003", "medgen:905084"], "information_content": 100.0}
{"id": "HP:0034372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Internal tibial torsion", "equivalent_identifiers": ["HP:0034372", "UMLS:C0575994", "MEDDRA:10064519", "SNOMEDCT:299228008"], "information_content": 100.0}
{"id": "MONDO:0030810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 10", "equivalent_identifiers": ["MONDO:0030810", "OMIM:619868", "UMLS:C5676981", "medgen:1807702"], "information_content": 100.0}
{"id": "MONDO:0009653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucolipidosis type IV", "equivalent_identifiers": ["MONDO:0009653", "DOID:0080490", "OMIM:252650", "orphanet:578", "UMLS:C0238286", "MEDDRA:10072930", "NCIT:C84896", "SNOMEDCT:111384001", "SNOMEDCT:725296006", "medgen:68663"], "information_content": 100.0}
{"id": "HP:0004345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ganglioside accumulation", "equivalent_identifiers": ["HP:0004345", "UMLS:C4025348", "UMLS:C5139036"], "information_content": 92.8}
{"id": "HP:0011020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of mucopolysaccharide metabolism", "equivalent_identifiers": ["HP:0011020", "UMLS:C4023592"], "information_content": 92.8}
{"id": "MONDO:0043465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achlorhydria", "equivalent_identifiers": ["MONDO:0043465", "UMLS:C0001075", "MESH:D000126", "MEDDRA:10000451", "MEDDRA:10000455", "NCIT:C2850", "SNOMEDCT:20754004", "SNOMEDCT:47481007", "medgen:1714", "icd11.foundation:157689543", "HP:0032448"], "information_content": 100.0}
{"id": "MONDO:0011167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus 6", "equivalent_identifiers": ["MONDO:0011167", "DOID:0110745", "OMIM:601941", "UMLS:C1866041", "MESH:C566603", "medgen:356143"], "information_content": 100.0}
{"id": "MONDO:0958325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 12 with or without myopathy", "equivalent_identifiers": ["MONDO:0958325", "OMIM:620757", "UMLS:C5935593", "medgen:1861803"], "information_content": 100.0}
{"id": "HP:0034016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-HLA antibody positivity", "equivalent_identifiers": ["HP:0034016", "UMLS:C5558385"], "information_content": 84.8}
{"id": "MONDO:0014405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "STING-associated vasculopathy with onset in infancy", "equivalent_identifiers": ["MONDO:0014405", "DOID:0111457", "OMIM:615934", "orphanet:425120", "UMLS:C4014722", "MEDDRA:10088833", "MEDDRA:10088872", "NCIT:C177547", "SNOMEDCT:711164003", "medgen:863159"], "information_content": 100.0}
{"id": "HP:0033250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nailfold capillary tortuosity", "equivalent_identifiers": ["HP:0033250", "UMLS:C4014731"], "information_content": 100.0}
{"id": "HP:0033434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal septum perforation", "equivalent_identifiers": ["HP:0033434", "EFO:1001813", "UMLS:C0235761", "MEDDRA:10028765", "MEDDRA:10034416", "SNOMEDCT:80142000", "MESH:D061270"], "information_content": 100.0}
{"id": "HP:0033280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paratracheal lymphadenopathy", "equivalent_identifiers": ["HP:0033280", "UMLS:C0520744", "MEDDRA:10025206", "MEDDRA:10033969", "SNOMEDCT:23794001"], "information_content": 100.0}
{"id": "MONDO:0012798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, unilateral, with delayed endolymphatic hydrops", "equivalent_identifiers": ["MONDO:0012798", "OMIM:612097", "UMLS:C2677512", "MESH:C567420", "medgen:393762"], "information_content": 100.0}
{"id": "OMIM:161550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2", "equivalent_identifiers": ["OMIM:161550", "UMLS:C2750548"]}
{"id": "MONDO:0012163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 104", "equivalent_identifiers": ["MONDO:0012163", "DOID:0090014", "OMIM:608971", "UMLS:C1837028", "UMLS:C5676890", "MESH:C563822", "NCIT:C176804", "medgen:1801019", "ICD10:D81.2"], "information_content": 92.8}
{"id": "MONDO:0859571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphragmatic hernia 4, with cardiovascular defects", "equivalent_identifiers": ["MONDO:0859571", "OMIM:620025", "UMLS:C5774210", "medgen:1823983"], "information_content": 100.0}
{"id": "MONDO:0021902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortopulmonary window", "equivalent_identifiers": ["MONDO:0021902", "UMLS:C0003516", "MESH:D001028", "MEDDRA:10063732", "MEDDRA:10063733", "NCIT:C101050", "SNOMEDCT:17024001", "medgen:365", "HP:0011604"], "information_content": 100.0}
{"id": "MONDO:0013721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component 4a deficiency", "equivalent_identifiers": ["MONDO:0013721", "DOID:0060297", "OMIM:614380", "UMLS:C3280642", "MESH:C565167", "medgen:482272"], "information_content": 100.0}
{"id": "MONDO:0014035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe intellectual disability-progressive spastic diplegia syndrome", "equivalent_identifiers": ["MONDO:0014035", "DOID:0070049", "OMIM:615075", "orphanet:404473", "UMLS:C3554449", "NCIT:C176897", "medgen:767363"], "information_content": 100.0}
{"id": "MONDO:0013255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "equivalent_identifiers": ["MONDO:0013255", "DOID:0111354", "OMIM:613404", "UMLS:C3150672", "medgen:462022"], "information_content": 100.0}
{"id": "MONDO:0060556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "joint laxity, short stature, and myopia", "equivalent_identifiers": ["MONDO:0060556", "OMIM:617662", "orphanet:527450", "UMLS:C4540020", "SNOMEDCT:1217372003", "medgen:1621331"], "information_content": 100.0}
{"id": "MONDO:0030887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2G", "equivalent_identifiers": ["MONDO:0030887", "DOID:0081163", "OMIM:619897", "UMLS:C5676995", "medgen:1801983"], "information_content": 100.0}
{"id": "MONDO:0017988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multifocal atrial tachycardia", "equivalent_identifiers": ["MONDO:0017988", "orphanet:3282", "UMLS:C0221158", "MEDDRA:10052350", "NCIT:C71050", "SNOMEDCT:49982000", "medgen:66362", "icd11.foundation:262929566", "HP:0011701"], "information_content": 100.0}
{"id": "HP:0031333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myocardial sarcomeric disarray", "equivalent_identifiers": ["HP:0031333", "UMLS:C4531190"], "information_content": 100.0}
{"id": "HP:0031676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monomorphic ventricular tachycardia", "equivalent_identifiers": ["HP:0031676", "NCIT:C62234", "UMLS:C0344431", "MEDDRA:10058185", "SNOMEDCT:251158004"], "information_content": 100.0}
{"id": "HP:0033008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased Z-disc width", "equivalent_identifiers": ["HP:0033008", "UMLS:C5397994"], "information_content": 100.0}
{"id": "MONDO:0010446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cone dysfunction syndrome with myopia", "equivalent_identifiers": ["MONDO:0010446", "OMIM:300843", "orphanet:90001", "UMLS:C3159311", "MESH:C564092", "SNOMEDCT:718718009", "medgen:463611", "icd11.foundation:290885874"], "information_content": 100.0}
{"id": "HP:0011522", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protanopia", "equivalent_identifiers": ["HP:0011522", "UMLS:C4551767"], "information_content": 100.0}
{"id": "HP:0011521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deuteranopia", "equivalent_identifiers": ["HP:0011521", "UMLS:C4551635", "MEDDRA:10074287"], "information_content": 100.0}
{"id": "MONDO:0011811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome", "equivalent_identifiers": ["MONDO:0011811", "DOID:0111611", "OMIM:607317", "orphanet:95434", "UMLS:C1846492", "MESH:C537310", "medgen:335442"], "information_content": 100.0}
{"id": "HP:0032105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macrosaccadic oscillations", "equivalent_identifiers": ["HP:0032105", "UMLS:C0585556", "SNOMEDCT:307689000"], "information_content": 100.0}
{"id": "MONDO:0032620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 15", "equivalent_identifiers": ["MONDO:0032620", "DOID:0112077", "OMIM:618237", "UMLS:C4748778", "medgen:1648320"], "information_content": 100.0}
{"id": "MONDO:0800042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restrictive dermopathy 1", "equivalent_identifiers": ["MONDO:0800042", "DOID:0070369", "OMIM:275210", "UMLS:C5676878", "MESH:C536920", "SNOMEDCT:400128006", "medgen:1812447"], "information_content": 100.0}
{"id": "HP:0005253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased anterioposterior diameter of thorax", "equivalent_identifiers": ["HP:0005253", "UMLS:C1848760"], "information_content": 100.0}
{"id": "HP:0011414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hydropic placenta", "equivalent_identifiers": ["HP:0011414", "UMLS:C0270254", "SNOMEDCT:75094005"], "information_content": 100.0}
{"id": "HP:0025712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous chorioamniotic separation", "equivalent_identifiers": ["HP:0025712", "UMLS:C5676638"], "information_content": 100.0}
{"id": "MONDO:0007944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher Collins syndrome 1", "equivalent_identifiers": ["MONDO:0007944", "DOID:0080789", "OMIM:154500"], "information_content": 100.0}
{"id": "HP:6000612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Squamosal suture synostosis", "equivalent_identifiers": ["HP:6000612", "UMLS:C5937367"], "information_content": 100.0}
{"id": "HP:0000197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal parotid gland morphology", "equivalent_identifiers": ["HP:0000197", "UMLS:C4025880"], "information_content": 80.6}
{"id": "HP:0009554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Preauricular hair displacement", "equivalent_identifiers": ["HP:0009554", "UMLS:C4024296"], "information_content": 100.0}
{"id": "HP:0007776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sparse lower eyelashes", "equivalent_identifiers": ["HP:0007776", "UMLS:C1835148"], "information_content": 100.0}
{"id": "HP:0012537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Food intolerance", "equivalent_identifiers": ["HP:0012537", "UMLS:C0149696", "MEDDRA:10016949", "MEDDRA:10061958", "SNOMEDCT:235719002", "MESH:D000073923"], "information_content": 92.8}
{"id": "HP:0007453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexural lichenification", "equivalent_identifiers": ["HP:0007453", "UMLS:C4024873"], "information_content": 100.0}
{"id": "MONDO:0013243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 2C", "equivalent_identifiers": ["MONDO:0013243", "DOID:0111209", "OMIM:613376", "UMLS:C3150619", "medgen:461969"], "information_content": 100.0}
{"id": "MONDO:0014313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity", "equivalent_identifiers": ["MONDO:0014313", "DOID:0111941", "OMIM:615707", "orphanet:437552", "UMLS:C3810342", "medgen:816672"], "information_content": 100.0}
{"id": "HP:0033166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent viral upper respiratory tract infections", "equivalent_identifiers": ["HP:0033166", "UMLS:C5421654"], "information_content": 100.0}
{"id": "MONDO:0010211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group C", "equivalent_identifiers": ["MONDO:0010211", "DOID:0110844", "OMIM:278720", "UMLS:C2752147", "MESH:C567886", "NCIT:C114770", "SNOMEDCT:25784009", "medgen:416702"], "information_content": 100.0}
{"id": "MONDO:0007794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "equivalent_identifiers": ["MONDO:0007794", "DOID:0090078", "OMIM:146110", "UMLS:C0342384", "MESH:C562785", "SNOMEDCT:123953004", "medgen:87440"], "information_content": 100.0}
{"id": "MONDO:0012695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 5", "equivalent_identifiers": ["MONDO:0012695", "DOID:0070119", "OMIM:611561", "UMLS:C1969052", "MESH:C566915", "medgen:409740"], "information_content": 100.0}
{"id": "MONDO:0011951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 6", "equivalent_identifiers": ["MONDO:0011951", "DOID:0060198", "OMIM:608030", "UMLS:C2750729", "UMLS:C2931786", "MESH:C538251", "MESH:C567699", "NCIT:C168750", "SNOMEDCT:1204334005", "medgen:419901"], "information_content": 100.0}
{"id": "MONDO:0032607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral anomalies and variable endocrine and T-cell dysfunction", "equivalent_identifiers": ["MONDO:0032607", "DOID:0070345", "OMIM:618223", "UMLS:C4748741", "medgen:1648299"], "information_content": 100.0}
{"id": "HP:0002846", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal B cell morphology", "equivalent_identifiers": ["HP:0002846", "UMLS:C4021748"], "information_content": 66.5}
{"id": "MONDO:0010459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 15", "equivalent_identifiers": ["MONDO:0010459", "DOID:0060206", "OMIM:300857", "UMLS:C3275459", "medgen:477090"], "information_content": 100.0}
{"id": "MONDO:0009891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired polycythemia vera", "equivalent_identifiers": ["MONDO:0009891", "DOID:8997", "OMIM:263300", "orphanet:729", "EFO:0002429", "UMLS:C0032463", "UMLS:C0152272", "MESH:D011087", "MEDDRA:10008867", "MEDDRA:10008868", "MEDDRA:10036056", "MEDDRA:10036057", "MEDDRA:10036060", "MEDDRA:10036061", "MEDDRA:10036725", "MEDDRA:10036726", "MEDDRA:10064071", "NCIT:C3336", "SNOMEDCT:128841001", "medgen:45996", "icd11.foundation:818364947", "ICD10:D45", "ICD9:207.1", "ICD9:238.4"], "information_content": 85.5}
{"id": "MONDO:0005299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain ischemia", "equivalent_identifiers": ["MONDO:0005299", "DOID:2316", "UMLS:C0007786", "UMLS:C0917798", "MESH:D002545", "MEDDRA:10008120", "MEDDRA:10008121", "MEDDRA:10023029", "MEDDRA:10023030", "MEDDRA:10055749", "MEDDRA:10055750", "MEDDRA:10070513", "MEDDRA:10070514", "NCIT:C78394", "SNOMEDCT:287731003", "SNOMEDCT:389100007", "medgen:182975", "HP:0002637"], "information_content": 88.2}
{"id": "HP:0001898", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased red blood cell mass", "equivalent_identifiers": ["HP:0001898", "UMLS:C1853288"], "information_content": 100.0}
{"id": "MONDO:0007831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "insect Stings, hypersensitivity to", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007831", "OMIM:147540", "UMLS:C1840171", "medgen:327045"], "information_content": 100.0}
{"id": "MONDO:0012415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4", "equivalent_identifiers": ["MONDO:0012415", "DOID:0111525", "OMIM:610131", "UMLS:C1864668", "MESH:C566437", "medgen:350480"], "information_content": 100.0}
{"id": "MONDO:0012280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Goldberg-Shprintzen syndrome", "equivalent_identifiers": ["MONDO:0012280", "DOID:0060481", "OMIM:609460", "orphanet:66629", "UMLS:C1836123", "MESH:C537279", "SNOMEDCT:717822006", "medgen:332131"], "information_content": 100.0}
{"id": "MONDO:0014685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy type 9", "equivalent_identifiers": ["MONDO:0014685", "DOID:0111450", "OMIM:616540", "orphanet:457265", "UMLS:C4225289", "SNOMEDCT:1228857005", "medgen:901242"], "information_content": 100.0}
{"id": "MONDO:0030508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 62", "equivalent_identifiers": ["MONDO:0030508", "DOID:0112351", "OMIM:619673", "UMLS:C5562049", "medgen:1794259"], "information_content": 100.0}
{"id": "MONDO:0011244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marshall-Smith syndrome", "equivalent_identifiers": ["MONDO:0011244", "DOID:0050858", "OMIM:602535", "orphanet:561", "UMLS:C0265211", "MESH:C536026", "SNOMEDCT:73284007", "medgen:75551", "icd11.foundation:417951600"], "information_content": 100.0}
{"id": "HP:0009845", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bullet-shaped middle phalanges of the hand", "equivalent_identifiers": ["HP:0009845", "UMLS:C4024187"], "information_content": 88.2}
{"id": "HP:0006048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal widening of metacarpals", "equivalent_identifiers": ["HP:0006048", "UMLS:C1865254"], "information_content": 100.0}
{"id": "HP:0006642", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large sternal ossification centers", "equivalent_identifiers": ["HP:0006642", "UMLS:C1865241"], "information_content": 100.0}
{"id": "MONDO:0009951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radiculoneuropathy, fatal neonatal", "equivalent_identifiers": ["MONDO:0009951", "OMIM:266250", "UMLS:C1849471", "MESH:C564857", "medgen:376592"], "information_content": 100.0}
{"id": "MONDO:0013748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular septal defect 2", "equivalent_identifiers": ["MONDO:0013748", "OMIM:614431", "UMLS:C3280783", "medgen:482413"], "information_content": 100.0}
{"id": "MONDO:0030854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1", "equivalent_identifiers": ["MONDO:0030854", "OMIM:619115", "UMLS:C5436842", "medgen:1763836"], "information_content": 100.0}
{"id": "MONDO:0012246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 26", "equivalent_identifiers": ["MONDO:0012246", "DOID:0050975", "OMIM:609306", "orphanet:101112", "UMLS:C1836395", "MESH:C537203", "SNOMEDCT:718769009", "medgen:373077", "icd11.foundation:586976339"], "information_content": 100.0}
{"id": "MONDO:0968981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 124", "equivalent_identifiers": ["MONDO:0968981", "OMIM:620794", "UMLS:C5935612", "medgen:1861039"], "information_content": 100.0}
{"id": "MONDO:0024265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duane syndrome type 1", "equivalent_identifiers": ["MONDO:0024265", "DOID:0061027", "OMIM:126800", "UMLS:C0994516", "UMLS:C1263871", "SNOMEDCT:128082002", "medgen:201329"], "information_content": 100.0}
{"id": "MONDO:0030843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mismatch repair cancer syndrome 4", "equivalent_identifiers": ["MONDO:0030843", "OMIM:619101", "UMLS:C5436817", "medgen:1745382"], "information_content": 100.0}
{"id": "MONDO:0958335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa, autosomal recessive, type 1d", "equivalent_identifiers": ["MONDO:0958335", "OMIM:620780", "UMLS:C5935602", "medgen:1857168"], "information_content": 100.0}
{"id": "HP:0100822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectocele", "equivalent_identifiers": ["HP:0100822", "EFO:1001837", "UMLS:C0149771", "MEDDRA:10038084", "MEDDRA:10085618", "SNOMEDCT:447072005", "SNOMEDCT:62730001", "MESH:D020047"], "information_content": 100.0}
{"id": "HP:0100808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastric diverticulum", "equivalent_identifiers": ["HP:0100808", "EFO:1001850", "UMLS:C0038355", "MEDDRA:10013558", "MEDDRA:10017781", "SNOMEDCT:75198005", "MESH:D013273"], "information_content": 100.0}
{"id": "HP:0010811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow uvula", "equivalent_identifiers": ["HP:0010811", "UMLS:C4023696"], "information_content": 100.0}
{"id": "MONDO:0008551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracolaryngopelvic dysplasia", "equivalent_identifiers": ["MONDO:0008551", "OMIM:187760", "OMIM:187770", "orphanet:3317", "UMLS:C1861196", "UMLS:C1861197", "MESH:C536517", "MESH:C566062", "SNOMEDCT:723556008", "medgen:349978", "icd11.foundation:337990406"], "information_content": 100.0}
{"id": "MONDO:0011207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthomatosis, susceptibility to", "equivalent_identifiers": ["MONDO:0011207", "OMIM:602247", "UMLS:C1865704", "medgen:356066"], "information_content": 100.0}
{"id": "MONDO:0013705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 19", "equivalent_identifiers": ["MONDO:0013705", "OMIM:614343", "UMLS:C3280541", "medgen:482171"], "information_content": 100.0}
{"id": "MONDO:0011835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "equivalent_identifiers": ["MONDO:0011835", "DOID:0111276", "OMIM:607459", "orphanet:402082", "orphanet:70595", "UMLS:C1843851", "UMLS:C4225440", "MESH:C537583", "SNOMEDCT:717266001", "medgen:375302"], "information_content": 95.4}
{"id": "HP:0003434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sensory ataxic neuropathy", "equivalent_identifiers": ["HP:0003434", "UMLS:C1843859"], "information_content": 100.0}
{"id": "HP:0007344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy/Degeneration involving the spinal cord", "equivalent_identifiers": ["HP:0007344", "UMLS:C1843858"], "information_content": 92.8}
{"id": "MONDO:0012413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic microphthalmia type 5", "equivalent_identifiers": ["MONDO:0012413", "DOID:0111806", "OMIM:610125", "orphanet:178364", "UMLS:C1864690", "UMLS:C4225436", "MESH:C566441", "SNOMEDCT:718761007", "medgen:350491"], "information_content": 100.0}
{"id": "MONDO:0054750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis, susceptibility to, 24", "equivalent_identifiers": ["MONDO:0054750", "DOID:0081378", "OMIM:617892", "UMLS:C4693523", "medgen:1632999"], "information_content": 100.0}
{"id": "MONDO:0026722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mullegama-Klein-Martinez syndrome", "equivalent_identifiers": ["MONDO:0026722", "DOID:0111845", "OMIM:301022", "UMLS:C5193008", "medgen:1683985"], "information_content": 100.0}
{"id": "HP:0410031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Submucous cleft of soft and hard palate", "equivalent_identifiers": ["HP:0410031", "UMLS:C4477069"], "information_content": 100.0}
{"id": "HP:0011456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent stapes", "equivalent_identifiers": ["HP:0011456", "UMLS:C0576909", "SNOMEDCT:300178009"], "information_content": 95.4}
{"id": "HP:0011624", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apical muscular ventricular septal defect", "equivalent_identifiers": ["HP:0011624", "UMLS:C4023264"], "information_content": 100.0}
{"id": "MONDO:0007346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cochleosaccular degeneration-cataract syndrome", "equivalent_identifiers": ["MONDO:0007346", "OMIM:120040", "orphanet:3233", "UMLS:C1861512", "MESH:C536432", "SNOMEDCT:715528001", "medgen:348378"], "information_content": 100.0}
{"id": "MONDO:0958197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber-like hereditary optic neuropathy, autosomal recessive 2", "equivalent_identifiers": ["MONDO:0958197", "OMIM:620569", "UMLS:C5882713", "medgen:1845294"], "information_content": 100.0}
{"id": "MONDO:0008726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis", "equivalent_identifiers": ["MONDO:0008726", "OMIM:201750", "orphanet:63269", "UMLS:C3150099", "NCIT:C178415", "medgen:461449"], "information_content": 100.0}
{"id": "HP:0001586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vesicovaginal fistula", "equivalent_identifiers": ["HP:0001586", "NCIT:C172051", "UMLS:C0042582", "MEDDRA:10069086", "SNOMEDCT:89405008", "MESH:D014719"], "information_content": 100.0}
{"id": "HP:0033812", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating androstenedione concentration", "equivalent_identifiers": ["HP:0033812", "UMLS:C5539828"], "information_content": 100.0}
{"id": "HP:0008233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating progesterone", "equivalent_identifiers": ["HP:0008233", "UMLS:C1858995"], "information_content": 95.4}
{"id": "HP:0025436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated serum 11-deoxycortisol", "equivalent_identifiers": ["HP:0025436", "UMLS:C4476775"], "information_content": 100.0}
{"id": "HP:0031213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 17-hydroxyprogesterone concentration", "equivalent_identifiers": ["HP:0031213", "UMLS:C4531273"], "information_content": 100.0}
{"id": "HP:0031216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating progesterone", "equivalent_identifiers": ["HP:0031216", "UMLS:C4531270"], "information_content": 95.4}
{"id": "MONDO:0013895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome 3", "equivalent_identifiers": ["MONDO:0013895", "OMIM:614814", "UMLS:C3553748", "medgen:766662"], "information_content": 100.0}
{"id": "MONDO:0009758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1B", "equivalent_identifiers": ["MONDO:0009758", "DOID:0110865", "OMIM:257270", "UMLS:C1850362", "medgen:342484"], "information_content": 100.0}
{"id": "MONDO:0012066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 1", "equivalent_identifiers": ["MONDO:0012066", "OMIM:608583", "UMLS:C1843687", "MESH:C538261", "medgen:334469"], "information_content": 100.0}
{"id": "MONDO:0008782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis with polyglucosan bodies", "equivalent_identifiers": ["MONDO:0008782", "OMIM:205250", "UMLS:C1859805", "MESH:C565955", "medgen:347953"], "information_content": 100.0}
{"id": "MONDO:0030070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 9, autosomal, with male infertility", "equivalent_identifiers": ["MONDO:0030070", "DOID:0051023", "OMIM:618948", "UMLS:C5394551", "medgen:1717772"], "information_content": 100.0}
{"id": "MONDO:0009513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngo-onycho-cutaneous syndrome", "equivalent_identifiers": ["MONDO:0009513", "OMIM:245660", "orphanet:2407", "UMLS:C1328355", "MESH:C537032", "MEDDRA:10062987", "SNOMEDCT:722675000", "medgen:272227"], "information_content": 100.0}
{"id": "HP:0008390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent loss of toenails and fingernails", "equivalent_identifiers": ["HP:0008390", "UMLS:C4021542"], "information_content": 100.0}
{"id": "MONDO:0013436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 39", "equivalent_identifiers": ["MONDO:0013436", "DOID:0110360", "OMIM:613809", "UMLS:C3151138", "medgen:462488"], "information_content": 100.0}
{"id": "MONDO:0007789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophia musculorum vera", "equivalent_identifiers": ["MONDO:0007789", "OMIM:145800", "UMLS:C1840361", "MESH:C564152", "medgen:374451"], "information_content": 100.0}
{"id": "MONDO:0007562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia, Beighton type", "equivalent_identifiers": ["MONDO:0007562", "DOID:0111348", "OMIM:132450", "UMLS:C1851536", "UMLS:C4304499", "MESH:C565046", "SNOMEDCT:719689005", "medgen:377049", "icd11.foundation:1115252418"], "information_content": 100.0}
{"id": "MONDO:0013889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-optic atrophy-Pelger-Huët anomaly syndrome", "equivalent_identifiers": ["MONDO:0013889", "OMIM:614800", "orphanet:391677", "UMLS:C3541319", "medgen:762020"], "information_content": 100.0}
{"id": "HP:0200068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonprogressive visual loss", "equivalent_identifiers": ["HP:0200068", "UMLS:C3553696", "UMLS:C4021893"], "information_content": 100.0}
{"id": "MONDO:0007173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 7", "equivalent_identifiers": ["MONDO:0007173", "DOID:0110112", "OMIM:108900", "orphanet:1479", "UMLS:C3276096", "medgen:477726"], "information_content": 100.0}
{"id": "MONDO:0011192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 18A", "equivalent_identifiers": ["MONDO:0011192", "DOID:0110473", "OMIM:602092", "UMLS:C1865870", "MESH:C566580", "medgen:356389"], "information_content": 100.0}
{"id": "MONDO:0012847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 6", "equivalent_identifiers": ["MONDO:0012847", "DOID:0060715", "OMIM:612281", "UMLS:C2677065", "medgen:436851"], "information_content": 100.0}
{"id": "MONDO:0012730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 6", "equivalent_identifiers": ["MONDO:0012730", "OMIM:611788", "UMLS:C2673186", "MESH:C567085", "medgen:435866"], "information_content": 100.0}
{"id": "HP:0500007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris flocculi", "equivalent_identifiers": ["HP:0500007", "UMLS:C4477072", "MESH:C000721429"], "information_content": 100.0}
{"id": "MONDO:0007657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "giant neutrophil leukocytes", "equivalent_identifiers": ["MONDO:0007657", "OMIM:137500", "UMLS:C1842039", "medgen:330754"], "information_content": 100.0}
{"id": "MONDO:0014850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa and erythrocytic microcytosis", "equivalent_identifiers": ["MONDO:0014850", "OMIM:616959", "UMLS:C4310776", "medgen:934743"], "information_content": 100.0}
{"id": "MONDO:0002174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preretinal fibrosis", "equivalent_identifiers": ["MONDO:0002174", "DOID:2006", "UMLS:C0339543", "MESH:D019773", "MEDDRA:10025417", "MEDDRA:10057892", "MEDDRA:10062977", "MEDDRA:10063738", "MEDDRA:10064697", "MEDDRA:10086638", "NCIT:C175882", "SNOMEDCT:133853005", "SNOMEDCT:367649002", "medgen:87388", "ICD9:362.56", "HP:0100014"], "information_content": 100.0}
{"id": "MONDO:0859370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory infections, recurrent, and failure to thrive with or without diarrhea", "equivalent_identifiers": ["MONDO:0859370", "OMIM:620233", "UMLS:C5774306", "medgen:1824079"], "information_content": 100.0}
{"id": "HP:0034388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hilar lymph node enlargement", "equivalent_identifiers": ["HP:0034388", "UMLS:C0456973", "MEDDRA:10020094", "MEDDRA:10025202", "SNOMEDCT:87500009"], "information_content": 100.0}
{"id": "MONDO:0008928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract-ataxia-deafness syndrome", "equivalent_identifiers": ["MONDO:0008928", "OMIM:212710", "orphanet:1368", "UMLS:C0796123", "MESH:C538283", "medgen:163216"], "information_content": 100.0}
{"id": "MONDO:0014770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 25", "equivalent_identifiers": ["MONDO:0014770", "DOID:0110994", "OMIM:616781", "UMLS:C4084842", "medgen:895764"], "information_content": 100.0}
{"id": "MONDO:0033547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Li-Ghorbani-Weisz-Hubshman syndrome", "equivalent_identifiers": ["MONDO:0033547", "OMIM:618974", "UMLS:C5436525", "medgen:1763263"], "information_content": 100.0}
{"id": "MONDO:0007570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema palmare hereditarium", "equivalent_identifiers": ["MONDO:0007570", "OMIM:133000", "orphanet:231031", "UMLS:C1851502", "MESH:C565041", "SNOMEDCT:763767006", "medgen:343587"], "information_content": 100.0}
{"id": "MONDO:0013619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 6", "equivalent_identifiers": ["MONDO:0013619", "DOID:0080384", "OMIM:614196", "UMLS:C3280100", "medgen:481730"], "information_content": 100.0}
{"id": "MONDO:0013453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 8", "equivalent_identifiers": ["MONDO:0013453", "DOID:0110079", "OMIM:613835", "UMLS:C3151202", "medgen:462552"], "information_content": 100.0}
{"id": "MONDO:0024557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-telangiectasia-like disorder 1", "equivalent_identifiers": ["MONDO:0024557", "DOID:0081384", "OMIM:604391", "orphanet:251347", "UMLS:C4012790", "NCIT:C132224", "medgen:861227"], "information_content": 100.0}
{"id": "HP:0007286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal jerk nystagmus", "equivalent_identifiers": ["HP:0007286", "UMLS:C4024910"], "information_content": 100.0}
{"id": "OMIM:200300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACETOPHENETIDIN SENSITIVITY", "equivalent_identifiers": ["OMIM:200300", "UMLS:C1860214"]}
{"id": "MONDO:0010333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome", "equivalent_identifiers": ["MONDO:0010333", "DOID:0060816", "OMIM:300472", "orphanet:52055", "UMLS:C1845446", "UMLS:C4302679", "MESH:C564509", "SNOMEDCT:722282008", "medgen:335185"], "information_content": 100.0}
{"id": "MONDO:0859366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 85", "equivalent_identifiers": ["MONDO:0859366", "DOID:0070605", "OMIM:620227", "UMLS:C5774302", "medgen:1824075"], "information_content": 100.0}
{"id": "HP:0034585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cochlear nerve hypoplasia", "equivalent_identifiers": ["HP:0034585", "UMLS:C4230952"], "information_content": 100.0}
{"id": "MONDO:0014776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 42", "equivalent_identifiers": ["MONDO:0014776", "DOID:0111742", "OMIM:616795", "orphanet:458803", "EFO:0009059", "UMLS:C4225205", "NCIT:C171269", "SNOMEDCT:1208513005", "medgen:902592"], "information_content": 95.4}
{"id": "HP:0031166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eyelid myokymia", "equivalent_identifiers": ["HP:0031166", "UMLS:C4324277", "MEDDRA:10078745", "SNOMEDCT:726408005"], "information_content": 100.0}
{"id": "HP:0007001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of Purkinje cells in the cerebellar vermis", "equivalent_identifiers": ["HP:0007001", "UMLS:C1849146"], "information_content": 100.0}
{"id": "MONDO:0030073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitchell syndrome", "equivalent_identifiers": ["MONDO:0030073", "DOID:0070516", "OMIM:618960", "orphanet:631248", "UMLS:C5394554", "SNOMEDCT:1300194008", "medgen:1714342"], "information_content": 100.0}
{"id": "MONDO:0010644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "equivalent_identifiers": ["MONDO:0010644", "DOID:0111815", "OMIM:308990", "UMLS:C1839874", "MESH:C545036", "medgen:333426"], "information_content": 100.0}
{"id": "MONDO:0012765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 2", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0012765", "DOID:0070211", "OMIM:611944", "UMLS:C2677787", "UMLS:C4747568", "MESH:C567452", "medgen:1648459"], "information_content": 100.0}
{"id": "MONDO:0009588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Langer mesomelic dysplasia", "equivalent_identifiers": ["MONDO:0009588", "OMIM:249700", "orphanet:2632", "UMLS:C0432230", "MESH:C537267", "NCIT:C126876", "SNOMEDCT:38494008", "medgen:96585"], "information_content": 100.0}
{"id": "HP:0003993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad ulna", "equivalent_identifiers": ["HP:0003993", "UMLS:C4020692", "UMLS:C4025460"], "information_content": 100.0}
{"id": "HP:0003102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased carrying angle", "equivalent_identifiers": ["HP:0003102", "UMLS:C1855478"], "information_content": 100.0}
{"id": "MONDO:0011188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 3", "equivalent_identifiers": ["MONDO:0011188", "DOID:0110072", "OMIM:602086", "UMLS:C1865882", "MESH:C566584", "medgen:356108"], "information_content": 100.0}
{"id": "MONDO:0014220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy due to myoadenylate deaminase deficiency", "equivalent_identifiers": ["MONDO:0014220", "OMIM:615511", "UMLS:C3714933", "NCIT:C157504", "medgen:811508"], "information_content": 100.0}
{"id": "HP:0034529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle myoadenylate deaminase activity", "equivalent_identifiers": ["HP:0034529", "UMLS:C5826453"], "information_content": 100.0}
{"id": "MONDO:0011309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial gestational hyperthyroidism", "equivalent_identifiers": ["MONDO:0011309", "DOID:0081102", "OMIM:603373", "orphanet:99819", "UMLS:C1863959", "MESH:C566384", "SNOMEDCT:703309000", "medgen:355106", "icd11.foundation:811229304"], "information_content": 100.0}
{"id": "MONDO:0015014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "equivalent_identifiers": ["MONDO:0015014", "OMIM:617306", "orphanet:603494", "UMLS:C4310625", "SNOMEDCT:1332382002", "medgen:934592"], "information_content": 100.0}
{"id": "MONDO:0011776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CINCA syndrome", "equivalent_identifiers": ["MONDO:0011776", "DOID:0090029", "OMIM:607115", "orphanet:1451", "UMLS:C0409818", "MEDDRA:10064568", "MEDDRA:10064572", "MEDDRA:10064573", "MEDDRA:10064574", "NCIT:C116380", "SNOMEDCT:239826001", "medgen:98370"], "information_content": 100.0}
{"id": "HP:0033308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patellar overgrowth", "equivalent_identifiers": ["HP:0033308", "UMLS:C5539503"], "information_content": 100.0}
{"id": "MONDO:0012728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 2", "equivalent_identifiers": ["MONDO:0012728", "DOID:0110219", "OMIM:611777", "UMLS:C2673193", "MESH:C567087", "medgen:382031"], "information_content": 100.0}
{"id": "MONDO:0011015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 24", "equivalent_identifiers": ["MONDO:0011015", "DOID:0110257", "OMIM:601202", "UMLS:C1832609", "MESH:C537774", "medgen:371364"], "information_content": 100.0}
{"id": "HP:0011501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior lenticonus", "equivalent_identifiers": ["HP:0011501", "UMLS:C0344262", "SNOMEDCT:95480008"], "information_content": 100.0}
{"id": "MONDO:0012052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012052", "DOID:0080563", "OMIM:608540", "orphanet:79327", "UMLS:C2931005", "MESH:C535749", "SNOMEDCT:720941007", "medgen:419308"], "information_content": 100.0}
{"id": "HP:0001560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the amniotic fluid", "equivalent_identifiers": ["HP:0001560", "UMLS:C0266781", "MEDDRA:10001959", "MEDDRA:10001969", "MEDDRA:10029673", "SNOMEDCT:42170009"], "information_content": 84.8}
{"id": "MONDO:0044320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 79", "equivalent_identifiers": ["MONDO:0044320", "DOID:0061108", "OMIM:617460", "UMLS:C4479526", "medgen:1386200"], "information_content": 100.0}
{"id": "MONDO:0013321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "forsythe-wakeling syndrome", "equivalent_identifiers": ["MONDO:0013321", "OMIM:613606", "UMLS:C3150859", "medgen:462209"], "information_content": 100.0}
{"id": "MONDO:0012918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 10", "equivalent_identifiers": ["MONDO:0012918", "DOID:0110612", "OMIM:612518", "UMLS:C2675867", "MESH:C567287", "medgen:382707"], "information_content": 100.0}
{"id": "MONDO:0010208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wrinkly skin syndrome", "equivalent_identifiers": ["MONDO:0010208", "DOID:0112171", "OMIM:278250", "orphanet:2834", "UMLS:C0406587", "MESH:C536750", "SNOMEDCT:238875009", "medgen:98030", "icd11.foundation:638767040"], "information_content": 100.0}
{"id": "MONDO:0014111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 19 multiple types", "equivalent_identifiers": ["MONDO:0014111", "DOID:0110263", "OMIM:615277", "UMLS:C3809004", "medgen:815334"], "information_content": 100.0}
{"id": "MONDO:0013325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG5-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013325", "DOID:0070261", "OMIM:613612", "orphanet:263487", "UMLS:C3150876", "SNOMEDCT:721100009", "medgen:462226"], "information_content": 100.0}
{"id": "MONDO:0007453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 2", "equivalent_identifiers": ["MONDO:0007453", "DOID:0111100", "OMIM:125851", "UMLS:C0342277", "MESH:C564219", "NCIT:C129741", "SNOMEDCT:237604008", "medgen:87434"], "information_content": 100.0}
{"id": "MONDO:0011018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachyolmia-amelogenesis imperfecta syndrome", "equivalent_identifiers": ["MONDO:0011018", "DOID:0090143", "OMIM:601216", "orphanet:2899", "UMLS:C1832594", "MESH:C536538", "MEDDRA:10081838", "SNOMEDCT:716195006", "medgen:318659", "ICD10:Q76.3"], "information_content": 100.0}
{"id": "MONDO:0011684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitiligo-associated multiple autoimmune disease susceptibility 1", "equivalent_identifiers": ["MONDO:0011684", "OMIM:606579", "UMLS:C1847835", "medgen:335788"], "information_content": 100.0}
{"id": "MONDO:0007115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioma serpiginosum, autosomal dominant", "inheritance": "Sporadic", "equivalent_identifiers": ["MONDO:0007115", "OMIM:106050", "UMLS:C1970130", "MESH:C536365", "medgen:370186"], "information_content": 100.0}
{"id": "MONDO:0060732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetraamelia syndrome 2", "equivalent_identifiers": ["MONDO:0060732", "DOID:0112193", "OMIM:618021", "UMLS:C4747923", "medgen:1648284"], "information_content": 100.0}
{"id": "HP:0005304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic pulmonary veins", "equivalent_identifiers": ["HP:0005304", "UMLS:C1970501"], "information_content": 95.4}
{"id": "MONDO:0011774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 30", "equivalent_identifiers": ["MONDO:0011774", "DOID:0110489", "OMIM:607101", "UMLS:C1846784", "MESH:C564624", "medgen:335521"], "information_content": 100.0}
{"id": "HP:0000866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Euthyroid multinodular goiter", "equivalent_identifiers": ["HP:0000866", "UMLS:C1846034"], "information_content": 100.0}
{"id": "MONDO:0011996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic myelogenous leukemia, BCR-ABL1 positive", "equivalent_identifiers": ["MONDO:0011996", "DOID:0081088", "DOID:8552", "OMIM:608232", "orphanet:521", "EFO:0000339", "UMLS:C0023473", "UMLS:C0279543", "UMLS:C1292771", "UMLS:C5193152", "MESH:D015464", "MEDDRA:10008904", "MEDDRA:10008905", "MEDDRA:10009011", "MEDDRA:10009012", "MEDDRA:10009013", "MEDDRA:10009015", "MEDDRA:10009700", "MEDDRA:10024296", "MEDDRA:10024347", "MEDDRA:10028553", "MEDDRA:10028558", "MEDDRA:10058245", "MEDDRA:10058246", "MEDDRA:10058247", "NCIT:C3174", "NCIT:C9128", "SNOMEDCT:1162588009", "SNOMEDCT:63364005", "SNOMEDCT:92818009", "medgen:75993", "ICD9:205.1", "KEGG.DISEASE:05220", "HP:0005506"], "information_content": 72.7}
{"id": "HP:0004848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ph-positive acute lymphoblastic leukemia", "equivalent_identifiers": ["HP:0004848", "NCIT:C36312", "UMLS:C1709527", "UMLS:C1960397", "SNOMEDCT:425688002", "SNOMEDCT:426955004"], "information_content": 87.2}
{"id": "MONDO:0018767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe primary trimethylaminuria", "equivalent_identifiers": ["MONDO:0018767", "DOID:0080361", "OMIM:602079", "orphanet:468726", "UMLS:C5575503", "MESH:C536561", "SNOMEDCT:1237339005", "medgen:1814174"], "information_content": 100.0}
{"id": "MONDO:0011182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trimethylaminuria", "equivalent_identifiers": ["MONDO:0011182", "UMLS:C0342739", "MEDDRA:10068233", "SNOMEDCT:237959005", "medgen:83350", "icd11.foundation:685690588", "HP:0003614"], "information_content": 92.8}
{"id": "MONDO:0014216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 28", "equivalent_identifiers": ["MONDO:0014216", "DOID:0110607", "OMIM:615505", "UMLS:C3809706", "medgen:816036"], "information_content": 100.0}
{"id": "HP:0012255", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dynein arm defect of respiratory motile cilia", "equivalent_identifiers": ["HP:0012255", "UMLS:C4022990"], "information_content": 86.3}
{"id": "MONDO:0013169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 5p13 duplication syndrome", "equivalent_identifiers": ["MONDO:0013169", "DOID:0060460", "OMIM:613174", "orphanet:329802", "UMLS:C2750805", "MESH:C567717", "medgen:416385"], "information_content": 100.0}
{"id": "MONDO:0008293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis 3, disseminated superficial actinic type", "equivalent_identifiers": ["MONDO:0008293", "OMIM:175900", "UMLS:C1867981", "MESH:C536339", "medgen:401352"], "information_content": 100.0}
{"id": "MONDO:0032485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder 61", "equivalent_identifiers": ["MONDO:0032485", "DOID:0061034", "OMIM:618009", "UMLS:C5231400", "medgen:1684867"], "information_content": 100.0}
{"id": "MONDO:0008465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patterson-Stevenson-Fontaine syndrome", "equivalent_identifiers": ["MONDO:0008465", "OMIM:183700", "orphanet:2439", "UMLS:C5574964", "MESH:C536311", "SNOMEDCT:724069009", "medgen:1808766"], "information_content": 100.0}
{"id": "MONDO:0012502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "normophosphatemic familial tumoral calcinosis", "equivalent_identifiers": ["MONDO:0012502", "DOID:0080170", "OMIM:610455", "orphanet:306658", "UMLS:C1864861", "MESH:C566473", "SNOMEDCT:1162852008", "medgen:355311"], "information_content": 100.0}
{"id": "HP:0100511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of vitamin D metabolism", "equivalent_identifiers": ["HP:0100511", "UMLS:C4022035"], "information_content": 77.6}
{"id": "MONDO:0030268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 6B", "equivalent_identifiers": ["MONDO:0030268", "DOID:0070379", "OMIM:619317", "UMLS:C5543353", "medgen:1779648"], "information_content": 100.0}
{"id": "MONDO:0017201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spasmus nutans", "equivalent_identifiers": ["MONDO:0017201", "orphanet:279882", "UMLS:C0546878", "UMLS:C1527306", "MEDDRA:10052890", "MEDDRA:10059593", "SNOMEDCT:18191000", "SNOMEDCT:400948003", "medgen:154280", "icd11.foundation:1868433558", "HP:0010533"], "information_content": 100.0}
{"id": "HP:0011150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myoclonic absence seizure", "equivalent_identifiers": ["HP:0011150", "UMLS:C4023512", "SNOMEDCT:1208629005"], "information_content": 100.0}
{"id": "HP:0100783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Breast aplasia", "equivalent_identifiers": ["HP:0100783", "UMLS:C0266009", "UMLS:C5967362", "SNOMEDCT:111324004", "SNOMEDCT:1144551004"], "information_content": 100.0}
{"id": "MONDO:0023670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 20", "equivalent_identifiers": ["MONDO:0023670", "DOID:0081009", "OMIM:619471", "UMLS:C4310707", "medgen:934674"], "information_content": 100.0}
{"id": "MONDO:0012472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 4", "equivalent_identifiers": ["MONDO:0012472", "OMIM:610333", "UMLS:C1835912", "MESH:C563681", "medgen:332084"], "information_content": 100.0}
{"id": "MONDO:0030399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visceral neuropathy, familial, 2, autosomal recessive", "equivalent_identifiers": ["MONDO:0030399", "OMIM:619465", "UMLS:C5561950", "medgen:1794160"], "information_content": 100.0}
{"id": "MONDO:0014764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia-severe developmental delay-epilepsy syndrome", "equivalent_identifiers": ["MONDO:0014764", "OMIM:616756", "orphanet:464282", "UMLS:C4225215", "medgen:897828"], "information_content": 100.0}
{"id": "MONDO:0011680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 3", "equivalent_identifiers": ["MONDO:0011680", "DOID:0060711", "OMIM:606545", "UMLS:C1847849", "UMLS:C3539888", "MESH:C564699", "medgen:761665"], "information_content": 100.0}
{"id": "MONDO:0009255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactokinase deficiency", "equivalent_identifiers": ["MONDO:0009255", "DOID:14695", "OMIM:230200", "orphanet:79237", "UMLS:C0268155", "NCIT:C114767", "SNOMEDCT:124302001", "medgen:120614", "icd11.foundation:1173858031", "ICD10:E74.29"], "information_content": 100.0}
{"id": "HP:6000723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte galactokinase activity", "equivalent_identifiers": ["HP:6000723", "UMLS:C5937456"], "information_content": 100.0}
{"id": "MONDO:0011443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile seizures, familial, 4", "equivalent_identifiers": ["MONDO:0011443", "DOID:0111305", "OMIM:604352", "UMLS:C1858493", "MESH:C565788", "medgen:347652"], "information_content": 100.0}
{"id": "MONDO:0012927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1q41-q42 deletion syndrome", "equivalent_identifiers": ["MONDO:0012927", "DOID:0060412", "OMIM:612530", "orphanet:250999", "UMLS:C2675857", "UMLS:C4274528", "MESH:C567278", "SNOMEDCT:716515000", "medgen:382704"], "information_content": 100.0}
{"id": "MONDO:0011269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 2", "equivalent_identifiers": ["MONDO:0011269", "DOID:0080475", "OMIM:602723", "UMLS:C1864497", "medgen:351141"], "information_content": 100.0}
{"id": "MONDO:0014236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, musculocontractural type 2", "equivalent_identifiers": ["MONDO:0014236", "DOID:0080735", "DOID:0080737", "OMIM:615539", "UMLS:C3809845", "medgen:816175"], "information_content": 100.0}
{"id": "MONDO:0013153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 28", "equivalent_identifiers": ["MONDO:0013153", "DOID:0110899", "OMIM:613148", "UMLS:C2751053", "MESH:C567728", "NCIT:C164676", "medgen:442630"], "information_content": 100.0}
{"id": "MONDO:0010915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 4A", "equivalent_identifiers": ["MONDO:0010915", "DOID:0110573", "OMIM:600652", "UMLS:C1833503", "MESH:C563460", "medgen:322209"], "information_content": 100.0}
{"id": "MONDO:0009326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart block", "equivalent_identifiers": ["MONDO:0009326", "DOID:990", "OMIM:234700", "orphanet:60041", "UMLS:C0149530", "MESH:C535758", "MEDDRA:10010494", "MEDDRA:10019263", "SNOMEDCT:46619002", "medgen:57432", "icd11.foundation:1096954866", "ICD10:Q24.6", "ICD9:746.86"], "information_content": 100.0}
{"id": "HP:0006690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myocardial calcification", "equivalent_identifiers": ["HP:0006690", "UMLS:C1096561", "MEDDRA:10054122"], "information_content": 95.4}
{"id": "HP:0006681", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent atrioventricular node", "equivalent_identifiers": ["HP:0006681", "UMLS:C4025006"], "information_content": 95.4}
{"id": "MONDO:0030260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 1E", "equivalent_identifiers": ["MONDO:0030260", "DOID:0112330", "OMIM:619303", "UMLS:C5543328", "medgen:1788285"], "information_content": 100.0}
{"id": "MONDO:0014461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 22 with or without anosmia", "equivalent_identifiers": ["MONDO:0014461", "DOID:0090081", "OMIM:616030", "UMLS:C4014988", "medgen:863425"], "information_content": 100.0}
{"id": "MONDO:0023671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngodistal myopathy 3", "equivalent_identifiers": ["MONDO:0023671", "DOID:0081299", "OMIM:619473", "UMLS:C5561956", "medgen:1794166"], "information_content": 100.0}
{"id": "MONDO:0014760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TFRC-related combined immunodeficiency", "equivalent_identifiers": ["MONDO:0014760", "DOID:0111948", "OMIM:616740", "orphanet:476113", "UMLS:C5568133", "SNOMEDCT:1179288008", "medgen:1799556"], "information_content": 100.0}
{"id": "MONDO:0014101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "equivalent_identifiers": ["MONDO:0014101", "DOID:0111235", "OMIM:615249", "UMLS:C3808964", "medgen:815294"], "information_content": 100.0}
{"id": "MONDO:0012923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy type 3", "equivalent_identifiers": ["MONDO:0012923", "DOID:0111137", "OMIM:612526", "UMLS:C2675861", "MESH:C567282", "medgen:436541"], "information_content": 100.0}
{"id": "MONDO:0013336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 19p13.13 deletion syndrome", "equivalent_identifiers": ["MONDO:0013336", "DOID:0060426", "OMIM:613638", "orphanet:357001", "UMLS:C3150894", "UMLS:C3150895", "SNOMEDCT:764440006", "medgen:462244"], "information_content": 100.0}
{"id": "MONDO:0009791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oral sensibility, disturbance of", "equivalent_identifiers": ["MONDO:0009791", "OMIM:258800", "UMLS:C1850269", "medgen:376745"], "information_content": 100.0}
{"id": "MONDO:0012828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 7", "equivalent_identifiers": ["MONDO:0012828", "OMIM:612240", "UMLS:C2677106", "MESH:C567389", "medgen:393658"], "information_content": 100.0}
{"id": "MONDO:0007230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brachymorphism-onychodysplasia-dysphalangism syndrome", "equivalent_identifiers": ["MONDO:0007230", "OMIM:113477", "orphanet:1292", "UMLS:C1862082", "MESH:C536242", "SNOMEDCT:720573009", "medgen:350585"], "information_content": 100.0}
{"id": "MONDO:0014458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young", "equivalent_identifiers": ["MONDO:0014458", "DOID:0080760", "OMIM:616026", "UMLS:C4014962", "medgen:863399"], "information_content": 100.0}
{"id": "MONDO:0030258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 14", "equivalent_identifiers": ["MONDO:0030258", "DOID:0112325", "OMIM:619301", "orphanet:613274", "UMLS:C5543322", "medgen:1778516"], "information_content": 100.0}
{"id": "MONDO:0014462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 8", "equivalent_identifiers": ["MONDO:0014462", "DOID:0111133", "OMIM:616032", "UMLS:C4014993", "medgen:863430"], "information_content": 100.0}
{"id": "MONDO:0007169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atherosclerosis susceptibility", "equivalent_identifiers": ["MONDO:0007169", "OMIM:108725", "UMLS:C1531719", "SNOMEDCT:413596002", "medgen:283903"], "information_content": 100.0}
{"id": "MONDO:0012496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Koolen-de Vries syndrome", "equivalent_identifiers": ["MONDO:0012496", "OMIM:610443", "orphanet:96169", "UMLS:C1864871", "MEDDRA:10091195", "medgen:355853"], "information_content": 92.8}
{"id": "HP:0006006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypotrophy of the small hand muscles", "equivalent_identifiers": ["HP:0006006", "UMLS:C1843228"], "information_content": 100.0}
{"id": "MONDO:0007961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly, autosomal dominant", "equivalent_identifiers": ["MONDO:0007961", "OMIM:155350", "UMLS:C3805727", "medgen:812057"], "information_content": 100.0}
{"id": "MONDO:0032912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 11", "equivalent_identifiers": ["MONDO:0032912", "DOID:0112372", "OMIM:618779", "UMLS:C5241442", "medgen:1717402"], "information_content": 100.0}
{"id": "MONDO:0859174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usmani-Riazuddin syndrome, autosomal dominant", "equivalent_identifiers": ["MONDO:0859174", "OMIM:619467", "UMLS:C5561952", "medgen:1794162"], "information_content": 100.0}
{"id": "OMIM:601228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "POLYPOSIS SYNDROME, HEREDITARY MIXED, 1", "equivalent_identifiers": ["OMIM:601228", "UMLS:C1832587", "UMLS:C2677290", "UMLS:C2677291", "MESH:C563365"]}
{"id": "MONDO:0010068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, sponastrime type", "equivalent_identifiers": ["MONDO:0010068", "DOID:5684", "OMIM:271510", "orphanet:93357", "UMLS:C0920349", "UMLS:C1300260", "MESH:C535786", "NCIT:C129031", "NCIT:C92206", "SNOMEDCT:389161008", "medgen:266247"], "information_content": 100.0}
{"id": "HP:0006336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short dental root", "equivalent_identifiers": ["HP:0006336", "UMLS:C2678330"], "information_content": 95.4}
{"id": "HP:0008486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar interpedicular narrowing", "equivalent_identifiers": ["HP:0008486", "UMLS:C1849079"], "information_content": 100.0}
{"id": "MONDO:0013320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16p12.2-p11.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0013320", "DOID:0060400", "OMIM:613604", "orphanet:261211", "UMLS:C3150858", "UMLS:C4304597", "SNOMEDCT:719576009", "medgen:462208"], "information_content": 100.0}
{"id": "MONDO:0032898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 43", "equivalent_identifiers": ["MONDO:0032898", "DOID:0111917", "OMIM:618751", "UMLS:C5231490", "medgen:1684830"], "information_content": 100.0}
{"id": "MONDO:0011886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia 13", "equivalent_identifiers": ["MONDO:0011886", "DOID:0090037", "OMIM:607671", "orphanet:98807", "UMLS:C1843264", "MESH:C564354", "SNOMEDCT:719278006", "medgen:335918"], "information_content": 100.0}
{"id": "MONDO:0012053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysm, intracranial berry, 2", "equivalent_identifiers": ["MONDO:0012053", "DOID:0080965", "OMIM:608542", "UMLS:C1837894", "MESH:C536360", "medgen:325285"], "information_content": 100.0}
{"id": "MONDO:0011014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleuropulmonary blastoma", "equivalent_identifiers": ["MONDO:0011014", "DOID:4769", "OMIM:601200", "orphanet:64742", "EFO:0009052", "MESH:C537516", "NCIT:C5669", "medgen:266105"], "information_content": 89.4}
{"id": "MONDO:0005933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary blastoma", "equivalent_identifiers": ["MONDO:0005933", "DOID:4765", "orphanet:64741", "EFO:0007458", "UMLS:C0206629", "UMLS:C1266144", "MESH:D018202", "MEDDRA:10080682", "NCIT:C3732", "SNOMEDCT:128763002", "SNOMEDCT:189815007", "SNOMEDCT:43149009", "SNOMEDCT:707670009", "medgen:61645", "HP:0100528"], "information_content": 86.3}
{"id": "MONDO:0859151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibromuscular dysplasia, multifocal", "equivalent_identifiers": ["MONDO:0859151", "OMIM:619329", "UMLS:C5543412", "medgen:1778238"], "information_content": 100.0}
{"id": "HP:0033982", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Celiac artery dissection", "equivalent_identifiers": ["HP:0033982", "UMLS:C5192444", "SNOMEDCT:16477701000119105"], "information_content": 100.0}
{"id": "HP:0100858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilatation of celiac artery", "equivalent_identifiers": ["HP:0100858", "UMLS:C0264969", "UMLS:C4477059", "MEDDRA:10079553", "MEDDRA:10079561", "SNOMEDCT:111290000"], "information_content": 100.0}
{"id": "HP:0003835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder subluxation", "equivalent_identifiers": ["HP:0003835", "UMLS:C0434744", "MEDDRA:10042412", "SNOMEDCT:263051004"], "information_content": 100.0}
{"id": "MONDO:0011994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 41", "equivalent_identifiers": ["MONDO:0011994", "DOID:0110567", "OMIM:608224", "UMLS:C1842371", "MESH:C564272", "NCIT:C175700", "medgen:330834"], "information_content": 100.0}
{"id": "MONDO:0015013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 77", "equivalent_identifiers": ["MONDO:0015013", "DOID:0080350", "OMIM:617304", "UMLS:C4310626", "medgen:934593"], "information_content": 100.0}
{"id": "MONDO:0007340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleidocranial dysplasia 1", "equivalent_identifiers": ["MONDO:0007340", "DOID:13994", "OMIM:119600", "orphanet:1452", "UMLS:C0008928", "UMLS:C5774312", "UMLS:C5774315", "MESH:D002973", "MEDDRA:10075994", "MEDDRA:10075998", "NCIT:C75020", "SNOMEDCT:65976001", "medgen:3486", "ICD10:Q74.0"], "information_content": 90.9}
{"id": "HP:0008848", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderately short stature", "equivalent_identifiers": ["HP:0008848", "UMLS:C1861519"], "information_content": 100.0}
{"id": "HP:0005259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal facility in opposing the shoulders", "equivalent_identifiers": ["HP:0005259", "UMLS:C1861517"], "information_content": 100.0}
{"id": "HP:6000872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the calvaria", "equivalent_identifiers": ["HP:6000872", "UMLS:C5937584"], "information_content": 100.0}
{"id": "HP:6000875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide sacroiliac joint", "equivalent_identifiers": ["HP:6000875", "UMLS:C1857187"], "information_content": 100.0}
{"id": "HP:0006040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long second metacarpal", "equivalent_identifiers": ["HP:0006040", "UMLS:C1861531"], "information_content": 100.0}
{"id": "MONDO:0007947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marfan syndrome", "equivalent_identifiers": ["MONDO:0007947", "DOID:14323", "OMIM:154700", "orphanet:284963", "orphanet:558", "UMLS:C0024796", "UMLS:C4721845", "MESH:D008382", "MEDDRA:10026829", "NCIT:C34807", "SNOMEDCT:1003407000", "SNOMEDCT:19346006", "medgen:44287", "icd11.foundation:236564145", "ICD10:Q87.4", "ICD9:759.82"], "information_content": 95.4}
{"id": "HP:0005136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitral annular calcification", "equivalent_identifiers": ["HP:0005136", "UMLS:C1835130"], "information_content": 95.4}
{"id": "HP:0008132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medial rotation of the medial malleolus", "equivalent_identifiers": ["HP:0008132", "UMLS:C3805726"], "information_content": 100.0}
{"id": "HP:0032934", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous cerebrospinal fluid leak", "equivalent_identifiers": ["HP:0032934", "UMLS:C3850067", "SNOMEDCT:813925041000119103"], "information_content": 100.0}
{"id": "HP:0012773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced upper to lower segment ratio", "equivalent_identifiers": ["HP:0012773", "UMLS:C4551956"], "information_content": 100.0}
{"id": "HP:0004872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incisional hernia", "equivalent_identifiers": ["HP:0004872", "UMLS:C0267716", "UMLS:C4021645", "MEDDRA:10021619", "MEDDRA:10021620", "MEDDRA:10021622", "MEDDRA:10050356", "SNOMEDCT:236037000", "SNOMEDCT:241556001", "MESH:D000069290"], "information_content": 100.0}
{"id": "HP:0025599", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inferior oblique muscle overaction", "equivalent_identifiers": ["HP:0025599", "UMLS:C1276001", "SNOMEDCT:400940005"], "information_content": 100.0}
{"id": "MONDO:0013165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 45", "equivalent_identifiers": ["MONDO:0013165", "DOID:0110797", "OMIM:613162", "orphanet:320396", "UMLS:C3888209", "SNOMEDCT:765753004", "medgen:854816"], "information_content": 100.0}
{"id": "MONDO:0014222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 14", "equivalent_identifiers": ["MONDO:0014222", "DOID:0111936", "OMIM:615513", "UMLS:C3714976", "MEDDRA:10078281", "NCIT:C187988", "NCIT:C203458", "medgen:811535"], "information_content": 90.9}
{"id": "MONDO:0013828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperekplexia 2", "equivalent_identifiers": ["MONDO:0013828", "DOID:0060697", "OMIM:614619", "UMLS:C3553291", "medgen:766205"], "information_content": 100.0}
{"id": "MONDO:0009969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal-genital-middle ear anomalies", "equivalent_identifiers": ["MONDO:0009969", "OMIM:267400", "UMLS:C1849432", "MESH:C564849", "medgen:341454"], "information_content": 100.0}
{"id": "MONDO:0011583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral amyloid angiopathy, APP-related", "equivalent_identifiers": ["MONDO:0011583", "DOID:0070028", "OMIM:605714", "UMLS:C2751536", "MESH:C537944", "NCIT:C157147", "medgen:414044"], "information_content": 87.2}
{"id": "MONDO:0005620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral amyloid angiopathy", "equivalent_identifiers": ["MONDO:0005620", "DOID:9246", "orphanet:85458", "EFO:0006790", "UMLS:C0085220", "UMLS:C1510489", "UMLS:C1956349", "MESH:D016657", "MEDDRA:10068044", "MEDDRA:10082093", "NCIT:C84625", "SNOMEDCT:230724001", "SNOMEDCT:724357007", "medgen:267610", "HP:0011970"], "information_content": 84.2}
{"id": "HP:0011695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar hemorrhage", "equivalent_identifiers": ["HP:0011695", "UMLS:C0149854", "MEDDRA:10008030", "MEDDRA:10008032", "MEDDRA:10018971", "MEDDRA:10055263", "MEDDRA:10071791", "SNOMEDCT:75038005"], "information_content": 100.0}
{"id": "HP:0004968", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent cerebral hemorrhage", "equivalent_identifiers": ["HP:0004968", "UMLS:C4025264"], "information_content": 100.0}
{"id": "MONDO:0032896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 42", "equivalent_identifiers": ["MONDO:0032896", "DOID:0111923", "OMIM:618745", "UMLS:C5231488", "medgen:1684744"], "information_content": 100.0}
{"id": "MONDO:0011017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Naxos disease", "equivalent_identifiers": ["MONDO:0011017", "DOID:0080551", "OMIM:601214", "orphanet:34217", "UMLS:C1832600", "MESH:C538346", "SNOMEDCT:715535009", "medgen:321991", "icd11.foundation:633516876"], "information_content": 100.0}
{"id": "HP:0031193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of right ventricular trabeculae", "equivalent_identifiers": ["HP:0031193", "UMLS:C4531287"], "information_content": 100.0}
{"id": "HP:0031819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased waist to hip ratio", "equivalent_identifiers": ["HP:0031819", "UMLS:C4703554"], "information_content": 100.0}
{"id": "MONDO:0010177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vascular hyalinosis", "equivalent_identifiers": ["MONDO:0010177", "OMIM:277175", "orphanet:3018", "UMLS:C1848590", "MESH:C564750", "MEDDRA:10080428", "medgen:376398"], "information_content": 100.0}
{"id": "HP:0007777", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chorioretinal scar", "equivalent_identifiers": ["HP:0007777", "UMLS:C0008512", "MEDDRA:10008766", "MEDDRA:10008767", "SNOMEDCT:53854005"], "information_content": 100.0}
{"id": "MONDO:0013323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia 2", "equivalent_identifiers": ["MONDO:0013323", "DOID:0080804", "OMIM:613610", "UMLS:C3150874", "medgen:462224"], "information_content": 100.0}
{"id": "MONDO:0010103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "teeth, fused", "equivalent_identifiers": ["MONDO:0010103", "OMIM:273000", "UMLS:C0016873", "MESH:D005671", "MEDDRA:10088308", "SNOMEDCT:1744008", "medgen:4808", "HP:0011090"], "information_content": 100.0}
{"id": "MONDO:0011456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 3", "equivalent_identifiers": ["MONDO:0011456", "DOID:0111114", "OMIM:604387", "UMLS:C1858392", "MESH:C565780", "SNOMEDCT:444749006", "medgen:346809"], "information_content": 100.0}
{"id": "MONDO:0009738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sialidosis type 2", "equivalent_identifiers": ["MONDO:0009738", "DOID:3343", "OMIM:256150", "OMIM:256550", "orphanet:87876", "UMLS:C0268228", "UMLS:C0268232", "UMLS:C3888317", "UMLS:C4282398", "MESH:C537366", "MESH:C562606", "NCIT:C125596", "SNOMEDCT:124461006", "SNOMEDCT:52186006", "SNOMEDCT:81896006", "medgen:924303", "icd11.foundation:1855856697"], "information_content": 92.8}
{"id": "MONDO:0013443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 5", "equivalent_identifiers": ["MONDO:0013443", "DOID:0070012", "OMIM:613823", "UMLS:C3151187", "medgen:462537"], "information_content": 100.0}
{"id": "MONDO:0010713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "properdin deficiency, X-linked", "equivalent_identifiers": ["MONDO:0010713", "DOID:0111768", "OMIM:312060", "orphanet:2966", "UMLS:C0398762", "UMLS:C1839454", "UMLS:C1839455", "UMLS:C1839456", "MESH:C537241", "MESH:C564075", "MESH:C564076", "SNOMEDCT:81166004", "medgen:333322"], "information_content": 100.0}
{"id": "HP:0005423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysfunctional alternative complement pathway", "equivalent_identifiers": ["HP:0005423", "UMLS:C1839458"], "information_content": 100.0}
{"id": "MONDO:0859368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short QT syndrome 7", "equivalent_identifiers": ["MONDO:0859368", "OMIM:620231", "UMLS:C5774304", "medgen:1824077"], "information_content": 100.0}
{"id": "MONDO:0010008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcosinemia", "equivalent_identifiers": ["MONDO:0010008", "DOID:0112307", "OMIM:268900", "orphanet:3129", "UMLS:C0268563", "MESH:C537236", "MEDDRA:10059299", "MEDDRA:10059310", "SNOMEDCT:64852002", "medgen:120651", "icd11.foundation:1901733714", "HP:0010896"], "information_content": 100.0}
{"id": "MONDO:0008650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome", "equivalent_identifiers": ["MONDO:0008650", "OMIM:192800", "orphanet:2064", "UMLS:C1860464", "UMLS:C4510303", "MESH:C536344", "SNOMEDCT:724064004", "medgen:348108"], "information_content": 100.0}
{"id": "MONDO:0008340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ptosis, hereditary congenital, 1", "equivalent_identifiers": ["MONDO:0008340", "DOID:0060261", "OMIM:178300", "orphanet:91411", "UMLS:C0266573", "UMLS:C1867438", "MESH:C566737", "MEDDRA:10010596", "MEDDRA:10010597", "MEDDRA:10015996", "NCIT:C27049", "SNOMEDCT:268163008", "SNOMEDCT:61989004", "medgen:357987", "ICD10:Q10.0", "ICD9:743.61", "HP:0007970"], "information_content": 95.4}
{"id": "HP:0005626", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior fusion of lumbosacral vertebrae", "equivalent_identifiers": ["HP:0005626", "UMLS:C4025169"], "information_content": 100.0}
{"id": "OMIM:212060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CARBIMAZOLE SENSITIVITY", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["OMIM:212060", "UMLS:C1859352"]}
{"id": "HP:0012235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Drug-induced agranulocytosis", "equivalent_identifiers": ["HP:0012235", "UMLS:C0272178", "SNOMEDCT:47318007"], "information_content": 100.0}
{"id": "MONDO:0030909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked, syndromic, Houge type", "equivalent_identifiers": ["MONDO:0030909", "DOID:0080242", "OMIM:301008", "UMLS:C4538788", "medgen:1624740"], "information_content": 100.0}
{"id": "MONDO:0100186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GTP cyclohydrolase I deficiency with hyperphenylalaninemia", "equivalent_identifiers": ["MONDO:0100186", "DOID:0112225", "OMIM:233910", "orphanet:2102", "NCIT:C141442", "SNOMEDCT:23447005"], "information_content": 100.0}
{"id": "HP:0040417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary biopterin level", "equivalent_identifiers": ["HP:0040417", "UMLS:C5936788"], "information_content": 100.0}
{"id": "HP:0500223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF phenylalanine concentration", "equivalent_identifiers": ["HP:0500223", "UMLS:C5139608"], "information_content": 100.0}
{"id": "HP:6000120", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary sulfatide level", "equivalent_identifiers": ["HP:6000120", "UMLS:C5936975"], "information_content": 100.0}
{"id": "HP:0040420", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary neopterin level", "equivalent_identifiers": ["HP:0040420", "UMLS:C5936791"], "information_content": 100.0}
{"id": "MONDO:0007651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastrocutaneous syndrome", "equivalent_identifiers": ["MONDO:0007651", "OMIM:137270", "orphanet:2069", "UMLS:C1850899", "MESH:C535651", "SNOMEDCT:782946000", "medgen:338154", "icd11.foundation:1431211717"], "information_content": 100.0}
{"id": "MONDO:0011921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aural atresia, congenital", "equivalent_identifiers": ["MONDO:0011921", "OMIM:607842", "UMLS:C1842937", "MESH:C564321", "medgen:375051"], "information_content": 100.0}
{"id": "MONDO:0011458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 4", "equivalent_identifiers": ["MONDO:0011458", "DOID:0110332", "OMIM:604393", "UMLS:C1858386", "UMLS:C2751763", "UMLS:C2751764", "MESH:C565778", "medgen:346808"], "information_content": 100.0}
{"id": "MONDO:0013610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 61", "equivalent_identifiers": ["MONDO:0013610", "DOID:0110373", "OMIM:614180", "UMLS:C3280041", "medgen:481671"], "information_content": 100.0}
{"id": "MONDO:0013454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 11", "equivalent_identifiers": ["MONDO:0013454", "DOID:0110216", "OMIM:613837", "UMLS:C1840284", "MESH:C564140", "medgen:326698"], "information_content": 100.0}
{"id": "MONDO:0032918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 84", "equivalent_identifiers": ["MONDO:0032918", "DOID:0112219", "OMIM:618792", "UMLS:C5394081", "medgen:1720141"], "information_content": 100.0}
{"id": "MONDO:0008049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, distal, infantile-onset", "equivalent_identifiers": ["MONDO:0008049", "DOID:0070196", "OMIM:160300", "UMLS:C4011725", "medgen:860162"], "information_content": 100.0}
{"id": "MONDO:0009426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism-retardation-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0009426", "DOID:0060348", "OMIM:241410", "orphanet:2323", "UMLS:C1855840", "MESH:C537157", "NCIT:C133727", "SNOMEDCT:1197148005", "medgen:340984"], "information_content": 100.0}
{"id": "HP:0005686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy osteosclerosis", "equivalent_identifiers": ["HP:0005686", "UMLS:C1855845"], "information_content": 74.5}
{"id": "MONDO:0013897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome 4", "equivalent_identifiers": ["MONDO:0013897", "DOID:0070233", "OMIM:614816", "UMLS:C3553762", "medgen:766676"], "information_content": 100.0}
{"id": "MONDO:0019000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perineural cyst", "equivalent_identifiers": ["MONDO:0019000", "EFO:1001858", "UMLS:C0520720", "MESH:D052958", "MEDDRA:10051766", "MEDDRA:10051770", "MEDDRA:10085865", "NCIT:C4797", "SNOMEDCT:81634008", "medgen:105457", "icd11.foundation:881909739", "HP:0025643"], "information_content": 100.0}
{"id": "MONDO:0026720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 12", "equivalent_identifiers": ["MONDO:0026720", "DOID:0112099", "OMIM:301020", "UMLS:C4746984", "medgen:1648278"], "information_content": 100.0}
{"id": "MONDO:0009763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity-hypoventilation syndrome", "equivalent_identifiers": ["MONDO:0009763", "OMIM:257500", "EFO:1001382", "UMLS:C0031880", "MESH:D010845", "MEDDRA:10035004", "MEDDRA:10064205", "SNOMEDCT:190966007", "medgen:18472"], "information_content": 100.0}
{"id": "MONDO:0009659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 4A", "equivalent_identifiers": ["MONDO:0009659", "DOID:0111391", "OMIM:253000", "orphanet:309297", "UMLS:C0086651", "NCIT:C84901", "SNOMEDCT:130197005", "SNOMEDCT:7259005", "medgen:43375", "icd11.foundation:1919173641", "ICD10:E76.210"], "information_content": 100.0}
{"id": "HP:0003277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Constricted iliac wing", "equivalent_identifiers": ["HP:0003277", "UMLS:C1854785"], "information_content": 100.0}
{"id": "HP:0000683", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Grayish enamel", "equivalent_identifiers": ["HP:0000683", "UMLS:C1854783"], "information_content": 100.0}
{"id": "HP:0012070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chondroitin sulfate excretion in urine", "equivalent_identifiers": ["HP:0012070", "UMLS:C4023059"], "information_content": 100.0}
{"id": "HP:0030865", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large elbow", "equivalent_identifiers": ["HP:0030865", "UMLS:C4280737"], "information_content": 100.0}
{"id": "HP:0001223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pointed proximal second through fifth metacarpals", "equivalent_identifiers": ["HP:0001223", "UMLS:C1854787"], "information_content": 100.0}
{"id": "HP:0012069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keratan sulfate excretion in urine", "equivalent_identifiers": ["HP:0012069", "UMLS:C4023060"], "information_content": 100.0}
{"id": "HP:0003053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epiphyseal deformities of tubular bones", "equivalent_identifiers": ["HP:0003053", "UMLS:C1854786"], "information_content": 95.4}
{"id": "MONDO:0008040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient myeloproliferative syndrome", "equivalent_identifiers": ["MONDO:0008040", "DOID:0060888", "OMIM:159595", "orphanet:420611", "UMLS:C1834582", "MESH:C563551", "NCIT:C82339", "SNOMEDCT:450934005", "SNOMEDCT:721307000", "medgen:331782", "ICD10:D47.7", "HP:0005534"], "information_content": 92.8}
{"id": "MONDO:0032916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Imagawa-Matsumoto syndrome", "equivalent_identifiers": ["MONDO:0032916", "OMIM:618786", "orphanet:659463", "UMLS:C5394073", "medgen:1711007"], "information_content": 100.0}
{"id": "MONDO:0014855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 42", "equivalent_identifiers": ["MONDO:0014855", "DOID:0070072", "OMIM:616973", "orphanet:488613", "UMLS:C4310774", "medgen:934741"], "information_content": 100.0}
{"id": "HP:0011289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with temporal sharp slow waves", "equivalent_identifiers": ["HP:0011289", "UMLS:C4023427"], "information_content": 100.0}
{"id": "HP:0012018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with temporal focal spikes", "equivalent_identifiers": ["HP:0012018", "UMLS:C4023073"], "information_content": 100.0}
{"id": "HP:0011210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with occipital slowing", "equivalent_identifiers": ["HP:0011210", "UMLS:C4023465"], "information_content": 100.0}
{"id": "HP:0011352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe receptive language delay", "equivalent_identifiers": ["HP:0011352", "UMLS:C3532947", "SNOMEDCT:89391000119105"], "information_content": 100.0}
{"id": "MONDO:0968983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 6", "equivalent_identifiers": ["MONDO:0968983", "OMIM:620796", "UMLS:C5935614", "medgen:1857440"], "information_content": 100.0}
{"id": "HP:6000239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating tumor necrosis factor alpha concentration", "equivalent_identifiers": ["HP:6000239", "UMLS:C5937062"], "information_content": 100.0}
{"id": "HP:0033199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating interleukin 10 concentration", "equivalent_identifiers": ["HP:0033199", "UMLS:C5421678"], "information_content": 100.0}
{"id": "HP:0034447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating interleukin 18 concentration", "equivalent_identifiers": ["HP:0034447", "UMLS:C5826400"], "information_content": 100.0}
{"id": "HP:0033833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating soluble CD25 concentration", "equivalent_identifiers": ["HP:0033833", "UMLS:C5539839"], "information_content": 100.0}
{"id": "HP:0033438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating myoglobin concentration", "equivalent_identifiers": ["HP:0033438", "UMLS:C5539591"], "information_content": 100.0}
{"id": "MONDO:0008463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split-hand and split-foot with hypodontia", "equivalent_identifiers": ["MONDO:0008463", "OMIM:183500", "UMLS:C1866742", "MESH:C566665", "medgen:357125"], "information_content": 100.0}
{"id": "MONDO:0012532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hemorrhagic telangiectasia type 4", "equivalent_identifiers": ["MONDO:0012532", "OMIM:610655", "UMLS:C1857688", "MESH:C565691", "medgen:341824"], "information_content": 100.0}
{"id": "HP:0002642", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arteriovenous fistulas of celiac and mesenteric vessels", "equivalent_identifiers": ["HP:0002642", "UMLS:C1857693"], "information_content": 100.0}
{"id": "HP:0011934", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilatation of mesenteric artery", "equivalent_identifiers": ["HP:0011934", "UMLS:C4023119", "UMLS:C4476552", "MEDDRA:10079556"], "information_content": 92.8}
{"id": "HP:0002626", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Venous varicosities of celiac and mesenteric vessels", "equivalent_identifiers": ["HP:0002626", "UMLS:C1857692"], "information_content": 100.0}
{"id": "HP:0001722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High-output congestive heart failure", "equivalent_identifiers": ["HP:0001722", "UMLS:C0742747"], "information_content": 100.0}
{"id": "MONDO:0012245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 3", "equivalent_identifiers": ["MONDO:0012245", "DOID:0080440", "OMIM:609304", "UMLS:C5574665", "MESH:C562695", "medgen:1801135"], "information_content": 100.0}
{"id": "MONDO:0044299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenic syndrome, congenital, 22", "equivalent_identifiers": ["MONDO:0044299", "DOID:0080587", "OMIM:616224", "UMLS:C4479088", "medgen:1393545"], "information_content": 100.0}
{"id": "MONDO:0013750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 8", "equivalent_identifiers": ["MONDO:0013750", "DOID:0110113", "OMIM:614433", "UMLS:C3280790", "medgen:482420"], "information_content": 100.0}
{"id": "MONDO:0011351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 21", "equivalent_identifiers": ["MONDO:0011351", "DOID:0110479", "OMIM:603629", "UMLS:C1863655", "MESH:C566353", "medgen:355030"], "information_content": 100.0}
{"id": "MONDO:0008530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lobodontia", "equivalent_identifiers": ["MONDO:0008530", "OMIM:187000", "UMLS:C1861274", "UMLS:C1861275", "UMLS:C1861276", "MESH:C566076", "medgen:396097"], "information_content": 100.0}
{"id": "MONDO:0011528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome type 2", "equivalent_identifiers": ["MONDO:0011528", "DOID:0060758", "OMIM:605258", "orphanet:101089", "UMLS:C1275128", "UMLS:C1720956", "NCIT:C129074", "SNOMEDCT:403836001", "medgen:354548"], "information_content": 100.0}
{"id": "MONDO:0007073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglossia-hypodactyly syndrome", "equivalent_identifiers": ["MONDO:0007073", "OMIM:103300", "orphanet:989", "UMLS:C0595985", "UMLS:C1863203", "MESH:C535629", "MESH:C566308", "SNOMEDCT:205817005", "SNOMEDCT:35031005", "medgen:354928"], "information_content": 100.0}
{"id": "HP:0009776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adactyly", "equivalent_identifiers": ["HP:0009776", "UMLS:C0238591", "UMLS:C4280394", "MEDDRA:10049207", "SNOMEDCT:275348004"], "information_content": 95.4}
{"id": "MONDO:0030506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 9", "equivalent_identifiers": ["MONDO:0030506", "DOID:0061013", "OMIM:619665", "UMLS:C5562046", "medgen:1794256"], "information_content": 100.0}
{"id": "MONDO:0010467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xq27.3q28 duplication syndrome", "equivalent_identifiers": ["MONDO:0010467", "OMIM:300869", "orphanet:261483", "UMLS:C3275521", "medgen:477152"], "information_content": 100.0}
{"id": "MONDO:0012414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 10", "equivalent_identifiers": ["MONDO:0012414", "DOID:0110725", "OMIM:610127", "orphanet:228337", "UMLS:C1864669", "UMLS:C4303804", "MESH:C566438", "SNOMEDCT:720831008", "medgen:350481"], "information_content": 100.0}
{"id": "MONDO:0012116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 8", "equivalent_identifiers": ["MONDO:0012116", "DOID:0050959", "OMIM:608768", "orphanet:98760", "UMLS:C1837454", "MESH:C537307", "SNOMEDCT:715753001", "medgen:332457", "icd11.foundation:1735913595"], "information_content": 100.0}
{"id": "MONDO:0010870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tibial muscular dystrophy", "equivalent_identifiers": ["MONDO:0010870", "DOID:0111078", "OMIM:600334", "orphanet:609", "UMLS:C1450052", "UMLS:C1838244", "SNOMEDCT:698846009", "medgen:333047"], "information_content": 100.0}
{"id": "HP:0008963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibialis muscle weakness", "equivalent_identifiers": ["HP:0008963", "UMLS:C4024612"], "information_content": 100.0}
{"id": "MONDO:0009254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fucosidosis", "equivalent_identifiers": ["MONDO:0009254", "DOID:14500", "OMIM:230000", "orphanet:349", "UMLS:C0016788", "MESH:D005645", "NCIT:C61274", "SNOMEDCT:64716005", "medgen:5288", "icd11.foundation:1470242510"], "information_content": 100.0}
{"id": "HP:0005453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent/hypoplastic paranasal sinuses", "equivalent_identifiers": ["HP:0005453", "UMLS:C1856639"], "information_content": 85.5}
{"id": "HP:0000240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of skull size", "equivalent_identifiers": ["HP:0000240", "UMLS:C4025874"], "information_content": 69.5}
{"id": "HP:0004558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical platyspondyly", "equivalent_identifiers": ["HP:0004558", "UMLS:C1856641"], "information_content": 100.0}
{"id": "HP:0012067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glycopeptiduria", "equivalent_identifiers": ["HP:0012067", "UMLS:C4023061"], "information_content": 92.8}
{"id": "HP:0008436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent/hypoplastic coccyx", "equivalent_identifiers": ["HP:0008436", "UMLS:C1856644"], "information_content": 100.0}
{"id": "HP:0034727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating alpha-L-fucosidase activity", "equivalent_identifiers": ["HP:0034727", "UMLS:C5872913"], "information_content": 100.0}
{"id": "HP:0004630", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior beaking of thoracic vertebrae", "equivalent_identifiers": ["HP:0004630", "UMLS:C4025302"], "information_content": 100.0}
{"id": "MONDO:0013703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 33", "equivalent_identifiers": ["MONDO:0013703", "DOID:0081194", "OMIM:614341", "UMLS:C3280539", "medgen:482169"], "information_content": 100.0}
{"id": "OMIM:613348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 3", "equivalent_identifiers": ["OMIM:613348", "UMLS:C3150547"]}
{"id": "MONDO:0007270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial restrictive, 1", "equivalent_identifiers": ["MONDO:0007270", "DOID:0111425", "OMIM:115210", "UMLS:C1861861", "MESH:C566168", "medgen:396236"], "information_content": 100.0}
{"id": "MONDO:0968945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder", "equivalent_identifiers": ["MONDO:0968945", "OMIM:620782", "UMLS:C5935603", "medgen:1854977"], "information_content": 100.0}
{"id": "HP:0011265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft earlobe", "equivalent_identifiers": ["HP:0011265", "UMLS:C4023440"], "information_content": 100.0}
{"id": "MONDO:0008017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary mucoepithelial dysplasia", "equivalent_identifiers": ["MONDO:0008017", "OMIM:158310", "orphanet:1839", "UMLS:C1274795", "MESH:C536476", "SNOMEDCT:403442005", "medgen:220887", "icd11.foundation:1167609602"], "information_content": 100.0}
{"id": "HP:0034418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythematous oral mucosa", "equivalent_identifiers": ["HP:0034418", "UMLS:C0240369", "SNOMEDCT:109771000"], "information_content": 100.0}
{"id": "HP:0006552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibrocystic lung disease", "equivalent_identifiers": ["HP:0006552", "UMLS:C1397290"], "information_content": 100.0}
{"id": "MONDO:0009324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hartnup disease", "equivalent_identifiers": ["MONDO:0009324", "DOID:1060", "OMIM:234500", "orphanet:2116", "UMLS:C0018609", "MESH:D006250", "MEDDRA:10019165", "NCIT:C84748", "SNOMEDCT:80902009", "medgen:6723", "ICD10:E72.02"], "information_content": 100.0}
{"id": "HP:6000332", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary indoleacetic acid level", "equivalent_identifiers": ["HP:6000332", "UMLS:C5937128"], "information_content": 100.0}
{"id": "HP:0008353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neutral hyperaminoaciduria", "equivalent_identifiers": ["HP:0008353", "UMLS:C1856194"], "information_content": 100.0}
{"id": "OMIM:609310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hereditary Non-Polyposis Colon Cancer Type 2", "equivalent_identifiers": ["OMIM:609310", "UMLS:C1333991", "MESH:D055847", "NCIT:C6726"], "information_content": 92.8}
{"id": "MONDO:0014545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy type 8", "equivalent_identifiers": ["MONDO:0014545", "DOID:0111451", "OMIM:616230", "orphanet:424027", "UMLS:C5190825", "SNOMEDCT:783139000", "medgen:1680582"], "information_content": 100.0}
{"id": "MONDO:0030852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities", "equivalent_identifiers": ["MONDO:0030852", "OMIM:619103", "UMLS:C5436821", "medgen:1777442"], "information_content": 100.0}
{"id": "MONDO:0032618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 13", "equivalent_identifiers": ["MONDO:0032618", "DOID:0112076", "OMIM:618235", "UMLS:C4748770", "medgen:1648370"], "information_content": 100.0}
{"id": "MONDO:0014917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 42", "equivalent_identifiers": ["MONDO:0014917", "DOID:0080454", "OMIM:617106", "UMLS:C4310716", "NCIT:C188142", "medgen:934683"], "information_content": 100.0}
{"id": "MONDO:0008478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, Schmidt type", "equivalent_identifiers": ["MONDO:0008478", "DOID:0112296", "OMIM:184253", "orphanet:93316", "UMLS:C1866688", "MESH:C535794", "SNOMEDCT:719304005", "medgen:356595", "icd11.foundation:1092012084"], "information_content": 100.0}
{"id": "HP:0006434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of proximal radius", "equivalent_identifiers": ["HP:0006434", "UMLS:C1859477"], "information_content": 100.0}
{"id": "HP:0030292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial metaphyseal irregularity", "equivalent_identifiers": ["HP:0030292", "UMLS:C4022533"], "information_content": 100.0}
{"id": "HP:0001248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short tubular bones of the hand", "equivalent_identifiers": ["HP:0001248", "UMLS:C4025795"], "information_content": 100.0}
{"id": "MONDO:0042499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign familial neonatal-infantile seizures 1", "equivalent_identifiers": ["MONDO:0042499", "DOID:0081114", "OMIM:601764", "UMLS:C4551769", "medgen:1638448"], "information_content": 100.0}
{"id": "MONDO:0030886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 14", "equivalent_identifiers": ["MONDO:0030886", "OMIM:619895", "UMLS:C5676994", "medgen:1811868"], "information_content": 100.0}
{"id": "MONDO:0011837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin K-dependent clotting factors, combined deficiency of, type 2", "equivalent_identifiers": ["MONDO:0011837", "DOID:0112174", "OMIM:607473", "UMLS:C1843832", "MESH:C564393", "medgen:334505"], "information_content": 100.0}
{"id": "HP:0040250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced prothrombin antigen", "equivalent_identifiers": ["HP:0040250", "UMLS:C4280698"], "information_content": 100.0}
{"id": "MONDO:0010402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 94", "equivalent_identifiers": ["MONDO:0010402", "DOID:0060823", "OMIM:300699", "UMLS:C2678051", "MESH:C567479", "medgen:437111", "ICD10:F72"], "information_content": 100.0}
{"id": "MONDO:0060554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral, cardiac, renal, and limb defects syndrome 1", "equivalent_identifiers": ["MONDO:0060554", "OMIM:617660", "UMLS:C4540004", "medgen:1621146"], "information_content": 100.0}
{"id": "HP:0012821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral vocal cord paresis", "equivalent_identifiers": ["HP:0012821", "UMLS:C0751577"], "information_content": 100.0}
{"id": "MONDO:0013711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "equivalent_identifiers": ["MONDO:0013711", "OMIM:614369", "orphanet:397744", "UMLS:C3280556", "medgen:482186"], "information_content": 100.0}
{"id": "MONDO:0013256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q24 deletion syndrome", "equivalent_identifiers": ["MONDO:0013256", "DOID:0060395", "OMIM:613406", "orphanet:94065", "UMLS:C3150674", "UMLS:C3150675", "UMLS:C3697269", "MESH:C579849", "SNOMEDCT:699308002", "medgen:462024"], "information_content": 100.0}
{"id": "MONDO:0005892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glue ear", "equivalent_identifiers": ["MONDO:0005892", "EFO:0007415", "UMLS:C0029883", "UMLS:C0456498", "UMLS:C1455742", "UMLS:C2242816", "MESH:D010034", "MEDDRA:10009008", "MEDDRA:10018447", "MEDDRA:10039895", "MEDDRA:10040113", "MEDDRA:10048763", "MEDDRA:10062545", "MEDDRA:10081109", "MEDDRA:10081113", "MEDDRA:10090954", "NCIT:C34886", "SNOMEDCT:1004115000", "SNOMEDCT:78868004", "medgen:629314", "HP:0040262"], "information_content": 100.0}
{"id": "HP:0033052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-epileptic seizure", "equivalent_identifiers": ["HP:0033052", "NCIT:C116548", "UMLS:C1142430", "UMLS:C3495874", "MEDDRA:10058895", "MEDDRA:10072463"], "information_content": 95.4}
{"id": "MONDO:0017091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral polymicrogyria", "equivalent_identifiers": ["MONDO:0017091", "orphanet:268940", "UMLS:C4707565", "SNOMEDCT:765757003", "medgen:1647593", "icd11.foundation:422828750", "HP:0025646"], "information_content": 83.1}
{"id": "HP:0009275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the distal interphalangeal joint of the 4th finger", "equivalent_identifiers": ["HP:0009275", "UMLS:C4024476"], "information_content": 100.0}
{"id": "MONDO:0012996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AGAT deficiency", "equivalent_identifiers": ["MONDO:0012996", "DOID:0050712", "OMIM:612718", "orphanet:35704", "UMLS:C2675179", "MESH:C567192", "MEDDRA:10081857", "MEDDRA:10081868", "NCIT:C198575", "SNOMEDCT:702440000", "medgen:436367"], "information_content": 100.0}
{"id": "HP:6000572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue arginine:glycine amidinotransferase activity", "equivalent_identifiers": ["HP:6000572", "UMLS:C5937334"], "information_content": 100.0}
{"id": "HP:6000748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary creatine level", "equivalent_identifiers": ["HP:6000748", "UMLS:C5937476"], "information_content": 100.0}
{"id": "MONDO:0009855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "d-bifunctional protein deficiency", "equivalent_identifiers": ["MONDO:0009855", "DOID:0090031", "OMIM:261515", "orphanet:300", "UMLS:C0342870", "NCIT:C119676", "SNOMEDCT:238068007", "medgen:137982", "ICD10:E71.3"], "information_content": 100.0}
{"id": "MONDO:0013260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophagitis, eosinophilic, 2", "equivalent_identifiers": ["MONDO:0013260", "OMIM:613412", "UMLS:C3150679", "medgen:462029"], "information_content": 100.0}
{"id": "MONDO:0008421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "flat face-microstomia-ear anomaly syndrome", "equivalent_identifiers": ["MONDO:0008421", "OMIM:182150", "orphanet:1968", "UMLS:C1866962", "MESH:C537339", "SNOMEDCT:773750003", "medgen:356655"], "information_content": 100.0}
{"id": "MONDO:0010457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ogden syndrome", "equivalent_identifiers": ["MONDO:0010457", "DOID:0050781", "OMIM:300855", "orphanet:276432", "UMLS:C2931113", "UMLS:C3275447", "MESH:C536107", "MEDDRA:10082376", "NCIT:C188215", "SNOMEDCT:771442003", "medgen:477078"], "information_content": 100.0}
{"id": "HP:0010508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metatarsus valgus", "equivalent_identifiers": ["HP:0010508", "UMLS:C4082144", "MESH:D000070591"], "information_content": 100.0}
{"id": "HP:0009762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wrinkled face", "equivalent_identifiers": ["HP:0009762", "UMLS:C0262478", "SNOMEDCT:248194004"], "information_content": 100.0}
{"id": "MONDO:0030881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 102", "equivalent_identifiers": ["MONDO:0030881", "DOID:0070388", "OMIM:619881", "UMLS:C5676991", "medgen:1812769"], "information_content": 100.0}
{"id": "MONDO:0007460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "discrimination, Two-point, reduction 1N", "equivalent_identifiers": ["MONDO:0007460", "OMIM:126180", "UMLS:C1852074", "medgen:343713"], "information_content": 100.0}
{"id": "MONDO:0032807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with visual defects and brain anomalies", "equivalent_identifiers": ["MONDO:0032807", "OMIM:618547", "UMLS:C5231404", "medgen:1684774"], "information_content": 100.0}
{"id": "MONDO:0032605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 66", "equivalent_identifiers": ["MONDO:0032605", "DOID:0081227", "OMIM:618221", "UMLS:C4748732", "medgen:1648460"], "information_content": 100.0}
{"id": "MONDO:0014311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 15", "equivalent_identifiers": ["MONDO:0014311", "DOID:0080057", "OMIM:615705", "orphanet:404499", "UMLS:C3810326", "SNOMEDCT:782721009", "medgen:816656"], "information_content": 100.0}
{"id": "MONDO:0008143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoarthritis susceptibility 1", "inheritance": "Multifactorial inheritance", "equivalent_identifiers": ["MONDO:0008143", "OMIM:165720", "UMLS:C3887876", "medgen:854604"], "information_content": 100.0}
{"id": "MONDO:0012699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "equivalent_identifiers": ["MONDO:0012699", "DOID:0110296", "OMIM:611588", "orphanet:206554", "UMLS:C1969040", "MESH:C566912", "SNOMEDCT:726618007", "medgen:370585"], "information_content": 100.0}
{"id": "MONDO:0958324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus, type 12", "equivalent_identifiers": ["MONDO:0958324", "OMIM:620755", "UMLS:C5935592", "medgen:1854923"], "information_content": 100.0}
{"id": "MONDO:0018544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenoleukodystrophy", "equivalent_identifiers": ["MONDO:0018544", "DOID:10588", "OMIM:300100", "orphanet:43", "UMLS:C0162309", "MESH:D000326", "MEDDRA:10051260", "NCIT:C61252", "medgen:57667", "icd11.foundation:1085655586", "ICD10:E71.52"], "information_content": 90.9}
{"id": "MONDO:0031055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 107", "equivalent_identifiers": ["MONDO:0031055", "DOID:0070393", "OMIM:620033", "UMLS:C5774215", "NCIT:C190869", "medgen:1823988"], "information_content": 100.0}
{"id": "MONDO:0033010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis et progressiva 1", "equivalent_identifiers": ["MONDO:0033010", "DOID:0111195", "OMIM:133200", "UMLS:C4551486", "medgen:1633225"], "information_content": 100.0}
{"id": "MONDO:0010576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked mixed hearing loss with perilymphatic gusher", "equivalent_identifiers": ["MONDO:0010576", "DOID:0111737", "OMIM:304400", "UMLS:C1844678", "MESH:C536424", "medgen:336750"], "information_content": 100.0}
{"id": "MONDO:0011407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial paresis, hereditary congenital, 2", "equivalent_identifiers": ["MONDO:0011407", "OMIM:604185", "UMLS:C1858717", "MESH:C536386", "medgen:346971"], "information_content": 100.0}
{"id": "MONDO:0008692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abetalipoproteinemia", "equivalent_identifiers": ["MONDO:0008692", "DOID:1386", "OMIM:200100", "orphanet:14", "EFO:1001789", "UMLS:C0000744", "UMLS:C1704299", "MESH:D000012", "MESH:D052476", "MEDDRA:10083851", "MEDDRA:10083885", "NCIT:C84525", "SNOMEDCT:190787008", "medgen:1253", "ICD10:E78.6", "HP:0008181"], "information_content": 100.0}
{"id": "MONDO:0011845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with or without aura, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0011845", "OMIM:607498", "UMLS:C1843782", "medgen:375283"], "information_content": 100.0}
{"id": "MONDO:0010396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 2", "equivalent_identifiers": ["MONDO:0010396", "DOID:0080467", "OMIM:300672", "orphanet:505652", "UMLS:C4750718", "MESH:C564064", "MEDDRA:10083005", "NCIT:C147070", "SNOMEDCT:773230003", "medgen:1663579"], "information_content": 100.0}
{"id": "MONDO:0859285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, short stature, and speech delay", "equivalent_identifiers": ["MONDO:0859285", "OMIM:620027", "UMLS:C5774211", "medgen:1823984"], "information_content": 100.0}
{"id": "MONDO:0010250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 49", "equivalent_identifiers": ["MONDO:0010250", "DOID:0112060", "OMIM:300114", "orphanet:485350", "UMLS:C0796221", "SNOMEDCT:1172691004", "medgen:923000"], "information_content": 100.0}
{"id": "MONDO:0012536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 7", "equivalent_identifiers": ["MONDO:0012536", "DOID:0110337", "OMIM:610682", "UMLS:C0432250", "UMLS:C1853162", "MESH:C536043", "MESH:C565200", "SNOMEDCT:254111008", "medgen:343981"], "information_content": 100.0}
{"id": "HP:0008796", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoral retroversion", "equivalent_identifiers": ["HP:0008796", "UMLS:C1846339", "MEDDRA:10064514"], "information_content": 100.0}
{"id": "HP:0006367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crumpled long bones", "equivalent_identifiers": ["HP:0006367", "UMLS:C1970497"], "information_content": 100.0}
{"id": "MONDO:0011171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odonto-tricho-ungual-digito-palmar syndrome", "equivalent_identifiers": ["MONDO:0011171", "OMIM:601957", "orphanet:69082", "UMLS:C1865998", "MESH:C566598", "SNOMEDCT:722063009", "medgen:400891", "icd11.foundation:386386782"], "information_content": 100.0}
{"id": "HP:0006189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent interdigital folds", "equivalent_identifiers": ["HP:0006189", "UMLS:C1866000"], "information_content": 100.0}
{"id": "MONDO:0000914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CADASIL 1", "equivalent_identifiers": ["MONDO:0000914", "DOID:0111035", "OMIM:125310", "orphanet:136", "UMLS:C4551768", "MESH:D046589", "NCIT:C84606", "SNOMEDCT:390936003", "medgen:1634330", "icd11.foundation:1621899838", "ICD10:F01.1"], "information_content": 92.8}
{"id": "HP:0012671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abulia", "equivalent_identifiers": ["HP:0012671", "UMLS:C0919974", "MEDDRA:10050013", "SNOMEDCT:737585009"], "information_content": 100.0}
{"id": "HP:0007236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent subcortical infarcts", "equivalent_identifiers": ["HP:0007236", "UMLS:C4024918"], "information_content": 100.0}
{"id": "MONDO:0014400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 70", "equivalent_identifiers": ["MONDO:0014400", "DOID:0110392", "OMIM:615922", "UMLS:C4014681", "medgen:863118"], "information_content": 100.0}
{"id": "MONDO:0009580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 1", "equivalent_identifiers": ["MONDO:0009580", "DOID:0081177", "OMIM:249500", "UMLS:C1855304", "MESH:C565406", "medgen:344468"], "information_content": 100.0}
{"id": "MONDO:0007738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "equivalent_identifiers": ["MONDO:0007738", "DOID:0050813", "OMIM:143095", "orphanet:263463", "UMLS:C1837657", "UMLS:C2931466", "MESH:C535789", "MESH:C537283", "SNOMEDCT:702400006", "SNOMEDCT:725417001", "medgen:373381"], "information_content": 100.0}
{"id": "HP:0006471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fixed elbow flexion", "equivalent_identifiers": ["HP:0006471", "UMLS:C4025044"], "information_content": 100.0}
{"id": "HP:0006462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized bone demineralization", "equivalent_identifiers": ["HP:0006462", "UMLS:C1833326"], "information_content": 100.0}
{"id": "HP:6000970", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished sulfotransferase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000970", "UMLS:C5970314"], "information_content": 100.0}
{"id": "MONDO:0012796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 41", "equivalent_identifiers": ["MONDO:0012796", "DOID:0110376", "OMIM:612095", "UMLS:C2677516", "MESH:C567422", "medgen:383126"], "information_content": 100.0}
{"id": "MONDO:0700087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1B", "equivalent_identifiers": ["MONDO:0700087", "OMIM:276900", "UMLS:C1848638", "UMLS:C2931206", "MESH:C536485", "MESH:C564755", "medgen:419358"], "information_content": 100.0}
{"id": "MONDO:0008724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adducted thumbs-arthrogryposis syndrome, Christian type", "equivalent_identifiers": ["MONDO:0008724", "OMIM:201550", "orphanet:2952", "UMLS:C4304055", "UMLS:C5975706", "MESH:C562949", "SNOMEDCT:720463009", "medgen:929724"], "information_content": 100.0}
{"id": "HP:0006990", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelin-dependent gliosis", "equivalent_identifiers": ["HP:0006990", "UMLS:C4024954"], "information_content": 100.0}
{"id": "MONDO:0032824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycosylphosphatidylinositol biosynthesis defect 21", "equivalent_identifiers": ["MONDO:0032824", "OMIM:618590", "EFO:0010564", "UMLS:C5231419", "medgen:1684749"], "information_content": 100.0}
{"id": "MONDO:0008353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pruritic urticarial papules and plaques of pregnancy", "equivalent_identifiers": ["MONDO:0008353", "OMIM:178995", "orphanet:64745", "UMLS:C0269680", "MESH:C535817", "MEDDRA:10066100", "MEDDRA:10066113", "MEDDRA:10088605", "SNOMEDCT:1252747005", "SNOMEDCT:88697005", "medgen:78710", "icd11.foundation:968694549"], "information_content": 100.0}
{"id": "MONDO:0010471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 5", "equivalent_identifiers": ["MONDO:0010471", "DOID:0080509", "OMIM:300882", "UMLS:C3550903", "medgen:763817"], "information_content": 100.0}
{"id": "MONDO:0010478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SLC35A2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0010478", "DOID:0070265", "OMIM:300896", "orphanet:356961", "UMLS:C3806688", "SNOMEDCT:771516000", "medgen:813018"], "information_content": 100.0}
{"id": "MONDO:0013037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giacheti syndrome", "equivalent_identifiers": ["MONDO:0013037", "OMIM:612917", "UMLS:C2752043", "MESH:C567864", "medgen:414543"], "information_content": 100.0}
{"id": "MONDO:0033654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 19", "equivalent_identifiers": ["MONDO:0033654", "DOID:0070504", "OMIM:619063", "UMLS:C5436723", "medgen:1729504"], "information_content": 100.0}
{"id": "HP:0500233", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF alanine concentration", "equivalent_identifiers": ["HP:0500233", "UMLS:C5139618"], "information_content": 100.0}
{"id": "MONDO:0012235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 7", "equivalent_identifiers": ["MONDO:0012235", "DOID:0080059", "OMIM:609270", "orphanet:284324", "UMLS:C1836474", "MESH:C563753", "SNOMEDCT:785301002", "medgen:324520"], "information_content": 100.0}
{"id": "MONDO:0007825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "incisors, rotation of upper central", "equivalent_identifiers": ["MONDO:0007825", "OMIM:147350", "UMLS:C1840224", "medgen:374416"], "information_content": 100.0}
{"id": "HP:0006330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rotated maxillary central incisors", "equivalent_identifiers": ["HP:0006330", "UMLS:C4025063"], "information_content": 100.0}
{"id": "MONDO:0012979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 12", "equivalent_identifiers": ["MONDO:0012979", "DOID:0110601", "OMIM:612650", "UMLS:C2675228", "MESH:C567211", "medgen:436379"], "information_content": 100.0}
{"id": "OMIM:620184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ATELIS SYNDROME 1", "equivalent_identifiers": ["OMIM:620184", "UMLS:C5774281"]}
{"id": "HP:0007400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular hyperpigmentation", "equivalent_identifiers": ["HP:0007400", "UMLS:C1860236"], "information_content": 79.9}
{"id": "MONDO:0100003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "susceptibility to angioedema induced by ACE inhibitors", "equivalent_identifiers": ["MONDO:0100003", "OMIM:300909", "UMLS:C3806711", "medgen:813041"], "information_content": 100.0}
{"id": "MONDO:0014639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 7", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0014639", "DOID:0060751", "OMIM:616436", "UMLS:C4225327", "medgen:907609"], "information_content": 100.0}
{"id": "MONDO:0030528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 93 and hypertrophic cardiomyopathy", "equivalent_identifiers": ["MONDO:0030528", "DOID:0061063", "OMIM:619705", "UMLS:C5676899", "medgen:1804175"], "information_content": 100.0}
{"id": "MONDO:0011690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camurati-Engelmann disease, type 2", "equivalent_identifiers": ["MONDO:0011690", "OMIM:606631", "UMLS:C2931683", "MESH:C537978", "medgen:419470"], "information_content": 100.0}
{"id": "MONDO:0010041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charlevoix-Saguenay spastic ataxia", "equivalent_identifiers": ["MONDO:0010041", "DOID:0050946", "OMIM:270550", "orphanet:98", "UMLS:C1849140", "MESH:C536787", "MEDDRA:10085993", "MEDDRA:10085994", "NCIT:C154614", "SNOMEDCT:702445005", "medgen:338620"], "information_content": 100.0}
{"id": "HP:4000169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pontine T2 hypointensity", "equivalent_identifiers": ["HP:4000169", "UMLS:C5826898"], "information_content": 100.0}
{"id": "HP:0007221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive truncal ataxia", "equivalent_identifiers": ["HP:0007221", "UMLS:C1849143"], "information_content": 100.0}
{"id": "MONDO:0012976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 2B", "equivalent_identifiers": ["MONDO:0012976", "DOID:0110559", "OMIM:612644", "UMLS:C2675236", "MESH:C567214", "medgen:390742"], "information_content": 100.0}
{"id": "MONDO:0008815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "argininosuccinic aciduria", "equivalent_identifiers": ["MONDO:0008815", "DOID:14755", "OMIM:207900", "orphanet:23", "UMLS:C0268547", "MESH:D056807", "MEDDRA:10058299", "MEDDRA:10083968", "NCIT:C84569", "SNOMEDCT:41013004", "medgen:78687", "icd11.foundation:439383288", "HP:0025630"], "information_content": 100.0}
{"id": "HP:0034734", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF argininosuccinic acid concentration", "equivalent_identifiers": ["HP:0034734", "UMLS:C5826623"], "information_content": 100.0}
{"id": "HP:0032491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating argininosuccinic acid", "equivalent_identifiers": ["HP:0032491", "UMLS:C5139381"], "information_content": 100.0}
{"id": "MONDO:0014389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyglucosan body myopathy 1 with or without immunodeficiency", "equivalent_identifiers": ["MONDO:0014389", "OMIM:615895", "orphanet:397937", "UMLS:C4014605", "SNOMEDCT:774148007", "medgen:863042"], "information_content": 100.0}
{"id": "MONDO:0032706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 27", "equivalent_identifiers": ["MONDO:0032706", "DOID:0111616", "OMIM:618369", "EFO:0010248", "UMLS:C5193058", "medgen:1672866"], "information_content": 100.0}
{"id": "MONDO:0014297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 22", "equivalent_identifiers": ["MONDO:0014297", "DOID:0110991", "OMIM:615665", "UMLS:C3810278", "medgen:816608"], "information_content": 100.0}
{"id": "MONDO:0970945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 116", "equivalent_identifiers": ["MONDO:0970945", "DOID:0070545", "OMIM:620806", "UMLS:C5935615", "medgen:1857742"], "information_content": 100.0}
{"id": "MONDO:0032686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 35", "equivalent_identifiers": ["MONDO:0032686", "DOID:0111914", "OMIM:618341", "UMLS:C5193038", "medgen:1679765"], "information_content": 100.0}
{"id": "MONDO:0014900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "equivalent_identifiers": ["MONDO:0014900", "DOID:0110289", "OMIM:617072", "orphanet:424261", "UMLS:C4511482", "NCIT:C181000", "SNOMEDCT:725907002", "medgen:1385152"], "information_content": 100.0}
{"id": "MONDO:0010854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toriello-Lacassie-Droste syndrome", "equivalent_identifiers": ["MONDO:0010854", "DOID:0111705", "OMIM:600268", "orphanet:3339", "UMLS:C1838329", "MESH:C563969", "SNOMEDCT:723554006", "medgen:333068", "icd11.foundation:1983176633"], "information_content": 100.0}
{"id": "HP:0100955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giant cell granuloma of mandible", "equivalent_identifiers": ["HP:0100955", "UMLS:C4021912"], "information_content": 100.0}
{"id": "MONDO:0010152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichomegaly-retina pigmentary degeneration-dwarfism syndrome", "equivalent_identifiers": ["MONDO:0010152", "DOID:0111271", "OMIM:275400", "orphanet:3363", "UMLS:C1848745", "MESH:C536554", "MEDDRA:10073654", "SNOMEDCT:719944006", "medgen:338532"], "information_content": 100.0}
{"id": "HP:0007818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central heterochromia", "equivalent_identifiers": ["HP:0007818", "UMLS:C4021567"], "information_content": 100.0}
{"id": "MONDO:0012080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 2B", "equivalent_identifiers": ["MONDO:0012080", "DOID:0111207", "OMIM:608634", "UMLS:C2608087", "MESH:C567084", "medgen:382017"], "information_content": 100.0}
{"id": "MONDO:0009966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NPHP3-related Meckel-like syndrome", "equivalent_identifiers": ["MONDO:0009966", "DOID:0070121", "OMIM:267010", "orphanet:3032", "UMLS:C2673885", "MESH:C537756", "SNOMEDCT:773737004", "medgen:382217"], "information_content": 100.0}
{"id": "HP:0100611", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple glomerular cysts", "equivalent_identifiers": ["HP:0100611", "NCIT:C123015", "UMLS:C4020705", "UMLS:C4022013"], "information_content": 100.0}
{"id": "MONDO:0013630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 9", "equivalent_identifiers": ["MONDO:0013630", "OMIM:614209", "UMLS:C3280155", "medgen:481785"], "information_content": 100.0}
{"id": "HP:0034217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sonographic non-visualized fetal bladder", "equivalent_identifiers": ["HP:0034217", "UMLS:C5676804"], "information_content": 100.0}
{"id": "MONDO:0008601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triglyceride storage disease, type 1", "equivalent_identifiers": ["MONDO:0008601", "OMIM:190420", "UMLS:C1860821", "MESH:C566031", "medgen:349897"], "information_content": 100.0}
{"id": "MONDO:0032748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 38", "equivalent_identifiers": ["MONDO:0032748", "DOID:0111919", "OMIM:618433", "UMLS:C5193095", "medgen:1680356"], "information_content": 100.0}
{"id": "MONDO:0007810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant ichthyosis vulgaris", "equivalent_identifiers": ["MONDO:0007810", "DOID:1702", "OMIM:146700", "UMLS:C0432300", "SNOMEDCT:254157005", "SNOMEDCT:254158000", "medgen:609440", "ICD10:Q80.0"], "information_content": 92.8}
{"id": "HP:0033807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent keratohyalin granules", "equivalent_identifiers": ["HP:0033807", "UMLS:C5539824"], "information_content": 100.0}
{"id": "MONDO:0011006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 9A", "equivalent_identifiers": ["MONDO:0011006", "DOID:0110824", "OMIM:601162", "orphanet:447753", "UMLS:C5568978", "MESH:C536868", "SNOMEDCT:1187465008", "medgen:1800401"], "information_content": 100.0}
{"id": "HP:0007299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysfunction of lateral corticospinal tracts", "equivalent_identifiers": ["HP:0007299", "UMLS:C1832671"], "information_content": 100.0}
{"id": "MONDO:0012229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 9", "equivalent_identifiers": ["MONDO:0012229", "OMIM:609258", "UMLS:C1836504", "MESH:C563759", "medgen:332222"], "information_content": 100.0}
{"id": "MONDO:0014896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome", "equivalent_identifiers": ["MONDO:0014896", "OMIM:617066", "orphanet:486815", "UMLS:C4310736", "SNOMEDCT:1172688004", "medgen:934703"], "information_content": 100.0}
{"id": "MONDO:0011556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal cell carcinoma, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0011556", "OMIM:605462", "UMLS:C1854245", "UMLS:C2751544", "UMLS:C2751545", "MESH:C537656", "MESH:C567789", "medgen:414403"], "information_content": 100.0}
{"id": "MONDO:0017715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxyacyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0017715", "OMIM:231530", "orphanet:309127", "UMLS:C1291230", "MESH:C535310", "SNOMEDCT:124122005", "medgen:266222"], "information_content": 100.0}
{"id": "HP:0006929", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoglycemic encephalopathy", "equivalent_identifiers": ["HP:0006929", "UMLS:C0149877", "MEDDRA:10021002", "MEDDRA:10060549", "SNOMEDCT:64624009", "MESH:C000721848"], "information_content": 100.0}
{"id": "MONDO:0012172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial trifunctional protein deficiency", "equivalent_identifiers": ["MONDO:0012172", "DOID:0111277", "OMIM.PS:609015", "orphanet:746", "UMLS:C0342785", "UMLS:C1969443", "UMLS:C4477062", "UMLS:C4477063", "MESH:C566945", "MEDDRA:10077949", "NCIT:C98991", "SNOMEDCT:237998000", "SNOMEDCT:237999008", "medgen:370665", "icd11.foundation:1018083832", "HP:0100950"], "information_content": 92.8}
{"id": "MONDO:0009737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactosialidosis", "equivalent_identifiers": ["MONDO:0009737", "DOID:0080540", "OMIM:256540", "orphanet:351", "UMLS:C0268233", "MESH:C536411", "MEDDRA:10083306", "NCIT:C129928", "SNOMEDCT:35691006", "medgen:82779", "icd11.foundation:1838660035"], "information_content": 100.0}
{"id": "MONDO:0014366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 14", "equivalent_identifiers": ["MONDO:0014366", "DOID:0070179", "OMIM:615842", "UMLS:C4014454", "medgen:862891"], "information_content": 100.0}
{"id": "HP:0031040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Round spermatid arrest", "equivalent_identifiers": ["HP:0031040", "UMLS:C4476926"], "information_content": 100.0}
{"id": "MONDO:0014617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 38", "equivalent_identifiers": ["MONDO:0014617", "DOID:0070068", "OMIM:616393", "UMLS:C4225343", "medgen:895359"], "information_content": 100.0}
{"id": "HP:0011412", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventouse delivery", "equivalent_identifiers": ["HP:0011412", "UMLS:C0042225", "UMLS:C1456852", "UMLS:C2825567", "SNOMEDCT:10761101000119105", "SNOMEDCT:61586001"], "information_content": 100.0}
{"id": "MONDO:0033370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 61", "equivalent_identifiers": ["MONDO:0033370", "DOID:0080434", "OMIM:617933", "UMLS:C4693688", "medgen:1639392"], "information_content": 100.0}
{"id": "MONDO:0010412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-craniofacioskeletal syndrome", "equivalent_identifiers": ["MONDO:0010412", "OMIM:300712", "orphanet:163979", "UMLS:C2678036", "MESH:C567471", "medgen:394716"], "information_content": 100.0}
{"id": "MONDO:0008392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Roussy-Levy syndrome", "equivalent_identifiers": ["MONDO:0008392", "OMIM:180800", "orphanet:3115", "UMLS:C0205713", "MEDDRA:10063449", "MEDDRA:10063450", "SNOMEDCT:45853006", "medgen:64430", "icd11.foundation:1790389383"], "information_content": 100.0}
{"id": "MONDO:0009382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperbilirubinemia, shunt, primary", "equivalent_identifiers": ["MONDO:0009382", "OMIM:237800", "UMLS:C3550398", "medgen:763312"], "information_content": 100.0}
{"id": "MONDO:0054770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome 18", "equivalent_identifiers": ["MONDO:0054770", "DOID:0060961", "OMIM:617927", "orphanet:508501", "UMLS:C5567903", "SNOMEDCT:1177179002", "medgen:1799326"], "information_content": 100.0}
{"id": "MONDO:0012127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2J", "equivalent_identifiers": ["MONDO:0012127", "DOID:0110283", "OMIM:608807", "orphanet:140922", "UMLS:C1837342", "MESH:C563854", "SNOMEDCT:725042001", "medgen:324741"], "information_content": 100.0}
{"id": "OMIM:620153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4", "equivalent_identifiers": ["OMIM:620153", "UMLS:C5774267"]}
{"id": "MONDO:0012407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxal phosphate-responsive seizures", "equivalent_identifiers": ["MONDO:0012407", "DOID:0111329", "OMIM:610090", "orphanet:79096", "UMLS:C1864723", "MESH:C566449", "SNOMEDCT:724576005", "medgen:350498", "icd11.foundation:1632334328", "icd11.foundation:604024463"], "information_content": 100.0}
{"id": "MONDO:0957984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2j", "equivalent_identifiers": ["MONDO:0957984", "OMIM:620635", "UMLS:C5882725", "medgen:1846005"], "information_content": 100.0}
{"id": "MONDO:0014912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive", "equivalent_identifiers": ["MONDO:0014912", "DOID:0080163", "OMIM:617099", "orphanet:500062", "UMLS:C4310614", "NCIT:C174441", "SNOMEDCT:765435009", "medgen:934581"], "information_content": 100.0}
{"id": "MONDO:0007782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperthermia, cutaneous, with headaches and nausea", "equivalent_identifiers": ["MONDO:0007782", "OMIM:145590", "UMLS:C1840373", "MESH:C564156", "medgen:374453"], "information_content": 100.0}
{"id": "MONDO:0008844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Athrombia, essential", "equivalent_identifiers": ["MONDO:0008844", "OMIM:209050", "UMLS:C1859595", "MESH:C565927", "medgen:349197"], "information_content": 100.0}
{"id": "HP:0008352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired platelet adhesion", "equivalent_identifiers": ["HP:0008352", "UMLS:C4024694"], "information_content": 100.0}
{"id": "MONDO:0010232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked", "equivalent_identifiers": ["MONDO:0010232", "DOID:0080681", "OMIM:300048", "UMLS:C2746068", "UMLS:C3806579", "MESH:C535532", "medgen:412536"], "information_content": 100.0}
{"id": "MONDO:0009418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadism with low-grade mental deficiency and microcephaly", "equivalent_identifiers": ["MONDO:0009418", "OMIM:241000", "UMLS:C1855858", "MESH:C565482", "medgen:383787"], "information_content": 100.0}
{"id": "MONDO:0009851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain", "equivalent_identifiers": ["MONDO:0009851", "OMIM:260970", "UMLS:C1850022", "MESH:C564894", "medgen:342395"], "information_content": 100.0}
{"id": "MONDO:0024238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral degeneration", "equivalent_identifiers": ["MONDO:0024238", "UMLS:C0154671", "MEDDRA:10008103", "MEDDRA:10064822", "SNOMEDCT:418143002", "SNOMEDCT:52522001", "medgen:56343", "HP:0007313"], "information_content": 55.2}
{"id": "HP:0006976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Necrotizing encephalopathy", "equivalent_identifiers": ["HP:0006976", "UMLS:C1396481"], "information_content": 100.0}
{"id": "HP:0008605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral external ear deformity", "equivalent_identifiers": ["HP:0008605", "UMLS:C1834043"], "information_content": 100.0}
{"id": "HP:0100731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transverse facial cleft", "equivalent_identifiers": ["HP:0100731", "UMLS:C4020954"], "information_content": 90.9}
{"id": "HP:0004660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of facial musculature", "equivalent_identifiers": ["HP:0004660", "UMLS:C1834042", "UMLS:C4280509", "UMLS:C4280510", "UMLS:C4280511"], "information_content": 100.0}
{"id": "HP:0011272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underdeveloped tragus", "equivalent_identifiers": ["HP:0011272", "UMLS:C4013429"], "information_content": 100.0}
{"id": "HP:0011270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplicated tragus", "equivalent_identifiers": ["HP:0011270", "UMLS:C4021172"], "information_content": 100.0}
{"id": "HP:0005439", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maxillozygomatic hypoplasia", "equivalent_identifiers": ["HP:0005439", "UMLS:C1848908", "UMLS:C4280488"], "information_content": 100.0}
{"id": "MONDO:0008830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aspartylglucosaminuria", "equivalent_identifiers": ["MONDO:0008830", "DOID:0050461", "OMIM:208400", "orphanet:93", "UMLS:C0268225", "UMLS:C2931840", "MESH:C538402", "MESH:D054880", "MEDDRA:10068220", "NCIT:C61273", "SNOMEDCT:54954004", "medgen:78649", "icd11.foundation:2143470200", "ICD10:E77.1", "HP:0012068"], "information_content": 100.0}
{"id": "HP:6000573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue aspartylglucosaminidase activity", "equivalent_identifiers": ["HP:6000573", "UMLS:C5937335"], "information_content": 100.0}
{"id": "HP:0032198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased prothrombin time", "equivalent_identifiers": ["HP:0032198", "UMLS:C0580413", "UMLS:C0853226", "MEDDRA:10011970", "MEDDRA:10022401", "MEDDRA:10022594", "MEDDRA:10037059", "MEDDRA:10037070", "MEDDRA:10062458", "SNOMEDCT:165569003"], "information_content": 100.0}
{"id": "MONDO:0013030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1BB", "equivalent_identifiers": ["MONDO:0013030", "DOID:0110458", "OMIM:612877", "UMLS:C2752072", "MESH:C567877", "medgen:414552"], "information_content": 100.0}
{"id": "MONDO:0859258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dystonia and seizures", "equivalent_identifiers": ["MONDO:0859258", "OMIM:619922", "UMLS:C5677004", "medgen:1804461"], "information_content": 100.0}
{"id": "MONDO:0008307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "presenile dementia, Kraepelin type", "equivalent_identifiers": ["MONDO:0008307", "OMIM:176600", "UMLS:C1867772", "MESH:C535273", "medgen:356847"], "information_content": 100.0}
{"id": "MONDO:0013025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 6q24-q25 deletion syndrome", "equivalent_identifiers": ["MONDO:0013025", "DOID:0060424", "OMIM:612863", "orphanet:251056", "UMLS:C3150215", "UMLS:C4304527", "SNOMEDCT:719663005", "medgen:461565"], "information_content": 100.0}
{"id": "HP:0034054", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Probst bundles", "equivalent_identifiers": ["HP:0034054", "UMLS:C5676654"], "information_content": 100.0}
{"id": "MONDO:0032725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 74", "equivalent_identifiers": ["MONDO:0032725", "DOID:0112210", "OMIM:618396", "UMLS:C5193074", "medgen:1680535"], "information_content": 100.0}
{"id": "MONDO:0957960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long-Olsen-Distelmaier syndrome", "equivalent_identifiers": ["MONDO:0957960", "OMIM:620609", "UMLS:C5882721", "medgen:1847052"], "information_content": 100.0}
{"id": "MONDO:0012449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 23", "equivalent_identifiers": ["MONDO:0012449", "DOID:0050973", "OMIM:610245", "orphanet:101108", "UMLS:C1853250", "MESH:C537201", "SNOMEDCT:718772002", "medgen:339942", "icd11.foundation:1340267869"], "information_content": 100.0}
{"id": "MONDO:0032836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weiss-Kruszka syndrome", "equivalent_identifiers": ["MONDO:0032836", "OMIM:618619", "orphanet:502430", "EFO:0010635", "UMLS:C5568107", "SNOMEDCT:1179283004", "medgen:1799530"], "information_content": 100.0}
{"id": "HP:0009897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal crus of helix", "equivalent_identifiers": ["HP:0009897", "UMLS:C4021379"], "information_content": 100.0}
{"id": "MONDO:0957281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 5B, autosomal recessive, childhood-onset", "equivalent_identifiers": ["MONDO:0957281", "DOID:0081374", "OMIM:620386", "UMLS:C5830545", "medgen:1841181"], "information_content": 100.0}
{"id": "HP:0031317", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatty replacement of ventricular myocardial tissue", "equivalent_identifiers": ["HP:0031317", "UMLS:C4531204"], "information_content": 100.0}
{"id": "MONDO:0013531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PSPH deficiency", "equivalent_identifiers": ["MONDO:0013531", "DOID:0050724", "OMIM:614023", "orphanet:79350", "UMLS:C1291463", "SNOMEDCT:124432005", "medgen:452940"], "information_content": 100.0}
{"id": "MONDO:0016825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial myopathy-lactic acidosis-deafness syndrome", "equivalent_identifiers": ["MONDO:0016825", "OMIM:251950", "orphanet:2597", "UMLS:C1855033", "MESH:C537476", "medgen:343245"], "information_content": 100.0}
{"id": "HP:0031962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated serum anion gap", "equivalent_identifiers": ["HP:0031962", "UMLS:C4732778"], "information_content": 100.0}
{"id": "MONDO:0009178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa dystrophica Neurotrophica", "equivalent_identifiers": ["MONDO:0009178", "OMIM:226500", "UMLS:C0268368", "MESH:C562637", "SNOMEDCT:254176007", "medgen:78666"], "information_content": 100.0}
{"id": "HP:0007504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse slow skin atrophy", "equivalent_identifiers": ["HP:0007504", "UMLS:C4024860"], "information_content": 100.0}
{"id": "MONDO:0014509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitelliform macular dystrophy 5", "equivalent_identifiers": ["MONDO:0014509", "OMIM:616152", "UMLS:C4015343", "medgen:863780"], "information_content": 100.0}
{"id": "MONDO:0014993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 8", "equivalent_identifiers": ["MONDO:0014993", "DOID:0080308", "OMIM:617258", "UMLS:C4310645", "medgen:934612"], "information_content": 100.0}
{"id": "MONDO:0013884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 5B", "equivalent_identifiers": ["MONDO:0013884", "DOID:0111205", "OMIM:614751", "UMLS:C3553656", "medgen:766570"], "information_content": 100.0}
{"id": "MONDO:0013539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia-failure to thrive-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0013539", "OMIM:614037", "orphanet:79507", "UMLS:C3279662", "MESH:C565439", "SNOMEDCT:717185008", "medgen:481292"], "information_content": 100.0}
{"id": "HP:0030390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating leukotriene C4 concentration", "equivalent_identifiers": ["HP:0030390", "UMLS:C4072927", "UMLS:C5139109"], "information_content": 100.0}
{"id": "MONDO:0009947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutathione synthetase deficiency with 5-oxoprolinuria", "equivalent_identifiers": ["MONDO:0009947", "DOID:0081034", "OMIM:266130", "orphanet:289846", "UMLS:C0398746", "UMLS:C5848078", "MEDDRA:10079364", "SNOMEDCT:124706000", "SNOMEDCT:39112005", "medgen:97988", "icd11.foundation:2005562438", "HP:0003343"], "information_content": 100.0}
{"id": "HP:0001345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Psychotic mentation", "equivalent_identifiers": ["HP:0001345", "UMLS:C4025789"], "information_content": 100.0}
{"id": "HP:0001996", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic metabolic acidosis", "equivalent_identifiers": ["HP:0001996", "UMLS:C0740749"], "information_content": 100.0}
{"id": "MONDO:0013407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 47", "equivalent_identifiers": ["MONDO:0013407", "DOID:0110369", "OMIM:613758", "UMLS:C3151061", "medgen:462411"], "information_content": 100.0}
{"id": "MONDO:0012908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component 6 deficiency", "equivalent_identifiers": ["MONDO:0012908", "DOID:0060299", "OMIM:612446", "UMLS:C2676232", "UMLS:C2676233", "MESH:C567307", "MESH:C567308", "medgen:436639"], "information_content": 100.0}
{"id": "HP:0033059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement C6 concentration", "equivalent_identifiers": ["HP:0033059", "UMLS:C5826369"], "information_content": 100.0}
{"id": "MONDO:0008623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undritz anomaly", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008623", "OMIM:191500", "UMLS:C1860604", "MESH:C566014", "medgen:348657"], "information_content": 100.0}
{"id": "MONDO:0013513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 9", "equivalent_identifiers": ["MONDO:0013513", "OMIM:613980", "UMLS:C3151431", "medgen:462781"], "information_content": 100.0}
{"id": "MONDO:0012454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alcohol sensitivity, acute", "equivalent_identifiers": ["MONDO:0012454", "OMIM:100650", "OMIM:610251", "UMLS:C2608086", "UMLS:C2674838", "UMLS:C2676227", "UMLS:C2751719", "UMLS:C3149226", "medgen:390639"], "information_content": 100.0}
{"id": "HP:0001033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial flushing after alcohol intake", "equivalent_identifiers": ["HP:0001033", "UMLS:C4025808"], "information_content": 100.0}
{"id": "HP:0003533", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced acetaldehyde dehydrogenase level", "equivalent_identifiers": ["HP:0003533", "UMLS:C4025601"], "information_content": 100.0}
{"id": "MONDO:0011339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 8", "equivalent_identifiers": ["MONDO:0011339", "DOID:0110823", "OMIM:603563", "orphanet:100989", "UMLS:C1863704", "MESH:C580458", "SNOMEDCT:785305006", "medgen:400359"], "information_content": 100.0}
{"id": "MONDO:0008886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sabinas brittle hair syndrome", "equivalent_identifiers": ["MONDO:0008886", "DOID:0111874", "OMIM:211390", "UMLS:C0796271", "MESH:C536320", "SNOMEDCT:1003920007", "medgen:163238", "icd11.foundation:1722502589"], "information_content": 100.0}
{"id": "MONDO:0011062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aprosencephaly cerebellar dysgenesis", "equivalent_identifiers": ["MONDO:0011062", "OMIM:601374", "orphanet:1126", "UMLS:C1832412", "MESH:C563331", "SNOMEDCT:1237366005", "medgen:330459"], "information_content": 100.0}
{"id": "HP:0007265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent mesencephalon", "equivalent_identifiers": ["HP:0007265", "UMLS:C4024913"], "information_content": 95.4}
{"id": "HP:0007027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poorly formed metencephalon", "equivalent_identifiers": ["HP:0007027", "UMLS:C4024951"], "information_content": 100.0}
{"id": "MONDO:0012462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive frontotemporal pachygyria", "equivalent_identifiers": ["MONDO:0012462", "OMIM:610279", "orphanet:329329", "UMLS:C1853215", "MESH:C538092", "SNOMEDCT:773394007", "medgen:343995"], "information_content": 100.0}
{"id": "MONDO:0054591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stankiewicz-Isidor syndrome", "equivalent_identifiers": ["MONDO:0054591", "OMIM:617516", "UMLS:C4479599", "medgen:1375936"], "information_content": 100.0}
{"id": "MONDO:0014996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 58", "equivalent_identifiers": ["MONDO:0014996", "DOID:0081220", "OMIM:617270", "UMLS:C4310641", "medgen:934608"], "information_content": 100.0}
{"id": "MONDO:0029140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycosylphosphatidylinositol biosynthesis defect 18", "equivalent_identifiers": ["MONDO:0029140", "DOID:0070382", "OMIM:618143", "UMLS:C4748357", "medgen:1648478"], "information_content": 100.0}
{"id": "HP:0011221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertical forehead creases", "equivalent_identifiers": ["HP:0011221", "UMLS:C4023456"], "information_content": 100.0}
{"id": "MONDO:0009166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 4", "equivalent_identifiers": ["MONDO:0009166", "DOID:0060273", "OMIM:225753", "orphanet:166063", "UMLS:C1856974", "MESH:C536716", "SNOMEDCT:718608006", "medgen:384027", "icd11.foundation:447667859"], "information_content": 100.0}
{"id": "MONDO:0011074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 7", "equivalent_identifiers": ["MONDO:0011074", "DOID:0110591", "OMIM:601412", "UMLS:C1832379", "MESH:C563321", "medgen:318614"], "information_content": 100.0}
{"id": "MONDO:0013887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 6, autosomal", "equivalent_identifiers": ["MONDO:0013887", "DOID:0051020", "OMIM:614779", "UMLS:C3553676", "medgen:766590"], "information_content": 100.0}
{"id": "MONDO:0014199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 17", "equivalent_identifiers": ["MONDO:0014199", "DOID:0080450", "OMIM:615473", "UMLS:C3809606", "medgen:815936"], "information_content": 100.0}
{"id": "MONDO:0800187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 83, susceptibility to viral infections", "equivalent_identifiers": ["MONDO:0800187", "OMIM:613002", "UMLS:C2751803", "UMLS:C5562079", "medgen:416638"], "information_content": 100.0}
{"id": "MONDO:0009199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ethanolaminosis", "equivalent_identifiers": ["MONDO:0009199", "OMIM:227150", "UMLS:C0268423", "MESH:C562651", "SNOMEDCT:64235006", "medgen:120637"], "information_content": 100.0}
{"id": "MONDO:0032567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated growth hormone deficiency, type 4", "equivalent_identifiers": ["MONDO:0032567", "OMIM:618157", "orphanet:684247", "UMLS:C4722273", "medgen:1648300"], "information_content": 100.0}
{"id": "MONDO:0012704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1X", "equivalent_identifiers": ["MONDO:0012704", "DOID:0110444", "OMIM:611615", "UMLS:C1969024", "MESH:C566907", "medgen:370583"], "information_content": 100.0}
{"id": "MONDO:0011054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive amelia", "equivalent_identifiers": ["MONDO:0011054", "OMIM:601360", "UMLS:C1832432", "MESH:C563338", "SNOMEDCT:726735000", "medgen:321955"], "information_content": 100.0}
{"id": "MONDO:0009698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unverricht-Lundborg syndrome", "equivalent_identifiers": ["MONDO:0009698", "DOID:0111452", "DOID:3535", "OMIM:254800", "orphanet:308", "UMLS:C0751785", "MESH:D020194", "MEDDRA:10054858", "MEDDRA:10054894", "MEDDRA:10054895", "NCIT:C179710", "SNOMEDCT:230423006", "medgen:155923"], "information_content": 100.0}
{"id": "MONDO:0008762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive Alport syndrome", "equivalent_identifiers": ["MONDO:0008762", "DOID:0110033", "OMIM:203780", "orphanet:88919", "UMLS:C1567744", "UMLS:C4746745", "SNOMEDCT:717767009", "medgen:1648334"], "information_content": 100.0}
{"id": "MONDO:0009066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile nephropathic cystinosis", "equivalent_identifiers": ["MONDO:0009066", "OMIM:219900", "orphanet:411634", "EFO:0009049", "UMLS:C0268626", "MESH:C562683", "SNOMEDCT:22830006", "medgen:75701", "icd11.foundation:422905632"], "information_content": 100.0}
{"id": "HP:0000531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal crystals", "equivalent_identifiers": ["HP:0000531", "UMLS:C1096610", "MEDDRA:10054768"], "information_content": 100.0}
{"id": "HP:0003358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated intracellular cystine", "equivalent_identifiers": ["HP:0003358", "UMLS:C4025623"], "information_content": 95.4}
{"id": "MONDO:0011412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial encephalopathy with neuroserpin inclusion bodies", "equivalent_identifiers": ["MONDO:0011412", "DOID:0050831", "OMIM:604218", "orphanet:85110", "UMLS:C1858680", "MESH:C536841", "SNOMEDCT:702421006", "medgen:346965", "icd11.foundation:453919434"], "information_content": 100.0}
{"id": "HP:6001062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophilic neuronal inclusion bodies", "equivalent_identifiers": ["HP:6001062", "UMLS:C5970386"], "information_content": 100.0}
{"id": "MONDO:0019569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cockayne syndrome type 1", "equivalent_identifiers": ["MONDO:0019569", "DOID:0080907", "OMIM:216400", "orphanet:90321", "UMLS:C0751039", "NCIT:C135725", "SNOMEDCT:890433006", "medgen:155488", "icd11.foundation:1271368066"], "information_content": 100.0}
{"id": "HP:0003357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thymic hormone decreased", "equivalent_identifiers": ["HP:0003357", "UMLS:C1857652"], "information_content": 100.0}
{"id": "MONDO:0013504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 8", "equivalent_identifiers": ["MONDO:0013504", "DOID:0070169", "OMIM:613957", "UMLS:C3151406", "medgen:462756"], "information_content": 100.0}
{"id": "MONDO:0010349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 2", "equivalent_identifiers": ["MONDO:0010349", "DOID:0080494", "DOID:0080861", "OMIM:300510", "UMLS:C1845294", "MESH:C564499", "medgen:336903"], "information_content": 100.0}
{"id": "MONDO:0007495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 5", "equivalent_identifiers": ["MONDO:0007495", "DOID:0090043", "OMIM:128230", "UMLS:C1851920", "MEDDRA:10080034", "SNOMEDCT:715768000", "medgen:342121"], "information_content": 100.0}
{"id": "MONDO:0008914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardioauditory syndrome of Sanchez Cascos", "equivalent_identifiers": ["MONDO:0008914", "OMIM:212100", "UMLS:C1859329", "MESH:C535577", "medgen:395233"], "information_content": 100.0}
{"id": "HP:0005875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased dermatoglyphic whorls", "equivalent_identifiers": ["HP:0005875", "UMLS:C4025120"], "information_content": 100.0}
{"id": "MONDO:0957382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 7", "equivalent_identifiers": ["MONDO:0957382", "OMIM:620423", "UMLS:C5830586", "medgen:1841222"], "information_content": 100.0}
{"id": "HP:0034893", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated brain glycine level by MRS", "equivalent_identifiers": ["HP:0034893", "UMLS:C5826743"], "information_content": 100.0}
{"id": "MONDO:0008826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis-hyperkeratosis syndrome, lethal form", "equivalent_identifiers": ["MONDO:0008826", "OMIM:208158", "orphanet:1485", "UMLS:C1859710", "MESH:C535883", "SNOMEDCT:726620005", "medgen:349230"], "information_content": 100.0}
{"id": "MONDO:0010655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability with marfanoid habitus", "equivalent_identifiers": ["MONDO:0010655", "DOID:0080985", "OMIM:309520", "orphanet:776", "UMLS:C0796022", "MESH:C537724", "SNOMEDCT:422437002", "medgen:167096"], "information_content": 100.0}
{"id": "HP:0008544", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally folded helix", "equivalent_identifiers": ["HP:0008544", "UMLS:C1970777"], "information_content": 88.2}
{"id": "MONDO:0014520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX ovarian dysgenesis-short stature syndrome", "equivalent_identifiers": ["MONDO:0014520", "DOID:0080496", "OMIM:616185", "orphanet:444048", "UMLS:C4015409", "SNOMEDCT:1237345002", "medgen:863846"], "information_content": 100.0}
{"id": "MONDO:0010285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Abidi type", "equivalent_identifiers": ["MONDO:0010285", "DOID:0060818", "OMIM:300262", "orphanet:85273", "UMLS:C1846056", "MESH:C535556", "medgen:337376"], "information_content": 100.0}
{"id": "MONDO:0007365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures, benign familial neonatal, 1", "equivalent_identifiers": ["MONDO:0007365", "OMIM:121200", "UMLS:C2751195", "UMLS:C3149074", "UMLS:C3149075", "MESH:C567743", "medgen:460425"], "information_content": 100.0}
{"id": "MONDO:0011771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 3", "equivalent_identifiers": ["MONDO:0011771", "DOID:0111211", "OMIM:607088", "orphanet:139547", "UMLS:C1846823", "MESH:C564626", "SNOMEDCT:770430000", "medgen:337659"], "information_content": 100.0}
{"id": "MONDO:0010810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D hydroxylation-deficient rickets, type 1B", "equivalent_identifiers": ["MONDO:0010810", "DOID:0080887", "OMIM:600081", "UMLS:C1838657", "MESH:C564005", "NCIT:C131074", "medgen:374020"], "information_content": 100.0}
{"id": "MONDO:0008199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset Parkinson disease", "equivalent_identifiers": ["MONDO:0008199", "DOID:0060892", "OMIM:168600", "orphanet:411602", "UMLS:C3160718", "UMLS:C4274355", "SNOMEDCT:716662004", "medgen:463618"], "information_content": 84.8}
{"id": "MONDO:0957247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 22A, classic", "equivalent_identifiers": ["MONDO:0957247", "DOID:0081354", "OMIM:620351", "UMLS:C5830453", "medgen:1841089"], "information_content": 100.0}
{"id": "MONDO:0011937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 4", "equivalent_identifiers": ["MONDO:0011937", "DOID:0070523", "OMIM:607936", "UMLS:C1842797", "UMLS:C4225407", "MESH:C564309", "medgen:895692"], "information_content": 100.0}
{"id": "MONDO:0013495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 8", "equivalent_identifiers": ["MONDO:0013495", "DOID:0060717", "OMIM:613943", "UMLS:C3553029", "medgen:765943"], "information_content": 100.0}
{"id": "MONDO:0009725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 2", "equivalent_identifiers": ["MONDO:0009725", "DOID:0110928", "OMIM:256030", "UMLS:C1850569", "MESH:C538349", "NCIT:C118784", "medgen:342534"], "information_content": 100.0}
{"id": "HP:0012036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sternocleidomastoid amyotrophy", "equivalent_identifiers": ["HP:0012036", "UMLS:C4023067"], "information_content": 100.0}
{"id": "MONDO:0008247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Robin sequence-oligodactyly syndrome", "equivalent_identifiers": ["MONDO:0008247", "OMIM:172880", "orphanet:3104", "UMLS:C1868309", "MESH:C535688", "medgen:358176"], "information_content": 100.0}
{"id": "MONDO:0007450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurohypophyseal diabetes insipidus", "equivalent_identifiers": ["MONDO:0007450", "DOID:0081059", "DOID:12388", "OMIM:125700", "orphanet:30925", "UMLS:C0342394", "NCIT:C84933", "SNOMEDCT:237696003", "SNOMEDCT:45369008", "medgen:574999", "icd11.foundation:97299603"], "information_content": 95.4}
{"id": "MONDO:0957274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 89, autosomal recessive", "equivalent_identifiers": ["MONDO:0957274", "DOID:0070458", "OMIM:620379", "UMLS:C5830531", "medgen:1841167"], "information_content": 100.0}
{"id": "MONDO:0976130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0976130", "OMIM:621067", "UMLS:C5975594"], "information_content": 100.0}
{"id": "HP:0012157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcortical cerebral atrophy", "equivalent_identifiers": ["HP:0012157", "UMLS:C4023018"], "information_content": 95.4}
{"id": "MONDO:0013991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to congenital leptin deficiency", "equivalent_identifiers": ["MONDO:0013991", "DOID:0111334", "OMIM:614962", "orphanet:66628", "UMLS:C3554224", "MEDDRA:10087061", "NCIT:C120384", "SNOMEDCT:700150001", "medgen:767138", "icd11.foundation:591009309"], "information_content": 100.0}
{"id": "MONDO:0009168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fowler syndrome", "equivalent_identifiers": ["MONDO:0009168", "DOID:0111666", "OMIM:225790", "orphanet:221126", "UMLS:C1856972", "MESH:C565593", "SNOMEDCT:700242002", "medgen:384026"], "information_content": 100.0}
{"id": "MONDO:0032584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis", "equivalent_identifiers": ["MONDO:0032584", "DOID:0111662", "OMIM:618180", "orphanet:685067", "UMLS:C4748560", "medgen:1648329"], "information_content": 100.0}
{"id": "MONDO:0012029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 6, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0012029", "DOID:0070290", "OMIM:608393", "UMLS:C1842109", "MESH:C564247", "medgen:330770"], "information_content": 100.0}
{"id": "MONDO:0013998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEGF8-related Carpenter syndrome", "equivalent_identifiers": ["MONDO:0013998", "DOID:0061099", "OMIM:614976", "UMLS:C3554247", "medgen:767161"], "information_content": 100.0}
{"id": "HP:0010239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the middle phalanx of the hand", "equivalent_identifiers": ["HP:0010239", "UMLS:C1862096"], "information_content": 88.2}
{"id": "MONDO:0009252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fructosuria", "equivalent_identifiers": ["MONDO:0009252", "DOID:0111680", "OMIM:229800", "orphanet:2056", "UMLS:C0268160", "MESH:C538068", "MEDDRA:10015487", "SNOMEDCT:124299001", "SNOMEDCT:124300009", "SNOMEDCT:24338009", "SNOMEDCT:40278002", "medgen:78645", "icd11.foundation:1362211287", "ICD10:E74.11"], "information_content": 100.0}
{"id": "HP:0011033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impairment of fructose metabolism", "equivalent_identifiers": ["HP:0011033", "UMLS:C4023581"], "information_content": 95.4}
{"id": "HP:6000804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine fructose level", "equivalent_identifiers": ["HP:6000804", "UMLS:C5937530"], "information_content": 100.0}
{"id": "MONDO:0032594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder and retinitis pigmentosa; IDDRP", "equivalent_identifiers": ["MONDO:0032594", "OMIM:618195", "UMLS:C4748658", "medgen:1648358"], "information_content": 100.0}
{"id": "HP:0007928", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal flash visual evoked potentials", "equivalent_identifiers": ["HP:0007928", "UMLS:C4024772"], "information_content": 89.4}
{"id": "MONDO:0009472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acetylation, slow", "equivalent_identifiers": ["MONDO:0009472", "OMIM:243400", "UMLS:C0878587", "UMLS:C2673468", "UMLS:C2673470", "medgen:164207"], "information_content": 100.0}
{"id": "MONDO:0010356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrogenic syndrome of inappropriate antidiuresis", "equivalent_identifiers": ["MONDO:0010356", "DOID:0112121", "OMIM:300539", "orphanet:93606", "UMLS:C1845202", "MESH:C564491", "SNOMEDCT:723440000", "medgen:336877", "icd11.foundation:808905140"], "information_content": 100.0}
{"id": "HP:0031969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced blood urea nitrogen", "equivalent_identifiers": ["HP:0031969", "UMLS:C4732780"], "information_content": 95.4}
{"id": "MONDO:0014779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilms tumor 6", "equivalent_identifiers": ["MONDO:0014779", "OMIM:616806", "UMLS:C3891301", "medgen:855962"], "information_content": 100.0}
{"id": "MONDO:0009530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoid proteinosis", "equivalent_identifiers": ["MONDO:0009530", "DOID:14498", "OMIM:247100", "orphanet:530", "UMLS:C0023795", "MESH:D008065", "MEDDRA:10051661", "NCIT:C84829", "SNOMEDCT:38692000", "medgen:6112", "icd11.foundation:326368380"], "information_content": 100.0}
{"id": "HP:0005671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral intracerebral calcifications", "equivalent_identifiers": ["HP:0005671", "UMLS:C4025159"], "information_content": 100.0}
{"id": "HP:6000656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papillary dermis eosinophilic hyaline material", "equivalent_identifiers": ["HP:6000656", "UMLS:C5937403"], "information_content": 100.0}
{"id": "HP:6000842", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple eyelid beaded papules", "equivalent_identifiers": ["HP:6000842", "UMLS:C5937561"], "information_content": 100.0}
{"id": "HP:0034293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporal lobe calcification", "equivalent_identifiers": ["HP:0034293", "UMLS:C5706149"], "information_content": 100.0}
{"id": "HP:0034760", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced epidermal extracellular matrix protein 1 protein expression", "equivalent_identifiers": ["HP:0034760", "UMLS:C5826644"], "information_content": 100.0}
{"id": "MONDO:0008266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type A1", "equivalent_identifiers": ["MONDO:0008266", "OMIM:174200", "UMLS:C4282400", "medgen:924305"], "information_content": 100.0}
{"id": "MONDO:0010052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 4", "equivalent_identifiers": ["MONDO:0010052", "DOID:0070176", "OMIM:270960", "UMLS:C0232981", "UMLS:C3279437", "MESH:C536875", "MEDDRA:10041494", "MEDDRA:10041495", "SNOMEDCT:85716005", "medgen:68568"], "information_content": 100.0}
{"id": "MONDO:0010761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa Y-linked", "equivalent_identifiers": ["MONDO:0010761", "DOID:0110418", "OMIM:400004", "UMLS:C1839079", "MESH:C564035", "medgen:326805"], "information_content": 100.0}
{"id": "MONDO:0957273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, dominant intermediate A", "equivalent_identifiers": ["MONDO:0957273", "OMIM:620378", "UMLS:C1847896", "medgen:376235"], "information_content": 100.0}
{"id": "MONDO:0007690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aromatase excess syndrome", "equivalent_identifiers": ["MONDO:0007690", "DOID:0090122", "OMIM:139300", "orphanet:178345", "UMLS:C1970109", "MESH:C000591739", "SNOMEDCT:709075008", "medgen:409989", "icd11.foundation:191989744", "ICD10:E30.1"], "information_content": 100.0}
{"id": "MONDO:0014782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2X", "equivalent_identifiers": ["MONDO:0014782", "DOID:0110290", "OMIM:616812", "orphanet:476084", "UMLS:C5568138", "SNOMEDCT:1179295004", "medgen:1799561"], "information_content": 100.0}
{"id": "MONDO:0008227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral dysostosis", "equivalent_identifiers": ["MONDO:0008227", "OMIM:170700", "UMLS:C4721502", "medgen:1648357"], "information_content": 100.0}
{"id": "MONDO:0013992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to leptin receptor gene deficiency", "equivalent_identifiers": ["MONDO:0013992", "OMIM:614963", "orphanet:179494", "UMLS:C3554225", "MEDDRA:10084105", "NCIT:C120386", "medgen:767139", "icd11.foundation:997823205"], "information_content": 100.0}
{"id": "HP:0012286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hypothalamus morphology", "equivalent_identifiers": ["HP:0012286", "UMLS:C4021095"], "information_content": 88.2}
{"id": "MONDO:0010139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated thyroid-stimulating hormone deficiency", "equivalent_identifiers": ["MONDO:0010139", "DOID:0070123", "OMIM:275100", "orphanet:90674", "UMLS:C0271789", "UMLS:C1848794", "UMLS:C3665349", "UMLS:C4082174", "MESH:C000603735", "MESH:C000610012", "MESH:C564765", "MEDDRA:10039840", "MEDDRA:10049517", "MEDDRA:10078564", "MEDDRA:10078571", "MEDDRA:10078572", "MEDDRA:10090564", "NCIT:C121743", "SNOMEDCT:82598004", "SNOMEDCT:89261000", "medgen:78786", "HP:0008245"], "information_content": 100.0}
{"id": "HP:0100738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eating behavior", "equivalent_identifiers": ["HP:0100738", "UMLS:C4021982"], "information_content": 73.3}
{"id": "MONDO:0010286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Siderius type", "equivalent_identifiers": ["MONDO:0010286", "DOID:0060812", "OMIM:300263", "orphanet:85287", "UMLS:C1846055", "MESH:C537333", "medgen:337375"], "information_content": 100.0}
{"id": "MONDO:0007366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures, benign familial neonatal, 2", "equivalent_identifiers": ["MONDO:0007366", "OMIM:121201", "UMLS:C1852581", "MESH:C535466", "medgen:377707"], "information_content": 100.0}
{"id": "MONDO:0009216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to GLUT2 deficiency", "equivalent_identifiers": ["MONDO:0009216", "DOID:0070562", "OMIM:227810", "orphanet:2088", "UMLS:C3495427", "UMLS:C3536827", "NCIT:C168998", "SNOMEDCT:61598006", "medgen:501176", "icd11.foundation:426701963"], "information_content": 100.0}
{"id": "HP:0012468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic acidosis", "equivalent_identifiers": ["HP:0012468", "UMLS:C1735903", "MEDDRA:10066569"], "information_content": 90.9}
{"id": "HP:0004915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impairment of galactose metabolism", "equivalent_identifiers": ["HP:0004915", "UMLS:C4021643"], "information_content": 95.4}
{"id": "MONDO:0010347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 84", "equivalent_identifiers": ["MONDO:0010347", "DOID:0112030", "OMIM:300505", "UMLS:C1845297", "MESH:C564501", "medgen:337203"], "information_content": 100.0}
{"id": "MONDO:0010809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial chronic myelocytic leukemia-like syndrome", "equivalent_identifiers": ["MONDO:0010809", "DOID:0060761", "OMIM:600080", "UMLS:C1838670", "MESH:C536093", "medgen:325075"], "information_content": 100.0}
{"id": "MONDO:0008200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Parkinson disease 1", "equivalent_identifiers": ["MONDO:0008200", "DOID:0060367", "OMIM:168601", "UMLS:C1868595", "UMLS:C1868596", "UMLS:C3489791", "MESH:C566823", "NCIT:C198602", "medgen:357008"], "information_content": 100.0}
{"id": "MONDO:0012465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "equivalent_identifiers": ["MONDO:0012465", "OMIM:610293", "orphanet:83639", "UMLS:C1853205", "UMLS:C4510605", "UMLS:C5201145", "MESH:C537277", "SNOMEDCT:724344004", "medgen:1684821", "icd11.foundation:1811042875"], "information_content": 100.0}
{"id": "MONDO:0006786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic vein thrombosis", "equivalent_identifiers": ["MONDO:0006786", "DOID:11512", "EFO:1000966", "UMLS:C0019154", "MEDDRA:10019713", "SNOMEDCT:38739001", "medgen:9217", "icd11.foundation:2131410813", "ICD10:I82.0", "HP:0030243"], "information_content": 100.0}
{"id": "HP:0031555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced granulocyte CD59 level", "equivalent_identifiers": ["HP:0031555", "UMLS:C4531045"], "information_content": 100.0}
{"id": "MONDO:0032925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory papillomatosis, juvenile recurrent, congenital", "equivalent_identifiers": ["MONDO:0032925", "OMIM:618803", "UMLS:C5394112", "medgen:1719353"], "information_content": 100.0}
{"id": "MONDO:0958190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bradyopsia 2", "equivalent_identifiers": ["MONDO:0958190", "DOID:0070364", "OMIM:620344", "UMLS:C5830452", "medgen:1841088"], "information_content": 100.0}
{"id": "MONDO:0010350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 2A", "equivalent_identifiers": ["MONDO:0010350", "DOID:0080858", "OMIM:300511", "UMLS:C1845293", "MESH:C564498", "medgen:336902"], "information_content": 100.0}
{"id": "MONDO:0009438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypouricemia, hypercalcinuria, and decreased bone density", "equivalent_identifiers": ["MONDO:0009438", "OMIM:242050", "UMLS:C1855793", "MESH:C565475", "medgen:343419"], "information_content": 100.0}
{"id": "MONDO:0008329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant pseudohypoaldosteronism type 1", "equivalent_identifiers": ["MONDO:0008329", "DOID:0060855", "OMIM:177735", "orphanet:171871", "UMLS:C1449842", "UMLS:C4288934", "NCIT:C126810", "medgen:260623"], "information_content": 100.0}
{"id": "MONDO:0007550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 1A, generalized severe", "equivalent_identifiers": ["MONDO:0007550", "DOID:0060735", "OMIM:131760", "orphanet:79396", "UMLS:C0079295", "SNOMEDCT:254179000", "medgen:38194", "ICD10:Q81.0"], "information_content": 100.0}
{"id": "MONDO:0013503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "candidiasis, familial, 6", "equivalent_identifiers": ["MONDO:0013503", "OMIM:613956", "UMLS:C3151405", "medgen:462755"], "information_content": 100.0}
{"id": "MONDO:0009284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutathione synthetase deficiency without 5-oxoprolinuria", "equivalent_identifiers": ["MONDO:0009284", "DOID:0112252", "OMIM:231900", "orphanet:289849", "UMLS:C1856399", "MESH:C565545", "medgen:343541", "icd11.foundation:178842925"], "information_content": 100.0}
{"id": "HP:0003258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glyoxalase deficiency", "equivalent_identifiers": ["HP:0003258", "UMLS:C3279658"], "information_content": 100.0}
{"id": "MONDO:0957314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 97", "equivalent_identifiers": ["MONDO:0957314", "DOID:0061110", "OMIM:620422", "UMLS:C5830579", "medgen:1841215"], "information_content": 100.0}
{"id": "MONDO:0031001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitreoretinopathy with phalangeal epiphyseal dysplasia", "equivalent_identifiers": ["MONDO:0031001", "OMIM:619248", "UMLS:C1852989", "MESH:C565179", "medgen:343940"], "information_content": 100.0}
{"id": "HP:0005920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal epiphysis morphology of the phalanges of the hand", "equivalent_identifiers": ["HP:0005920", "UMLS:C4021613"], "information_content": 62.5}
{"id": "MONDO:0001455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal lattice degeneration", "equivalent_identifiers": ["MONDO:0001455", "DOID:12165", "UMLS:C0154856", "MEDDRA:10024040", "SNOMEDCT:3577000", "medgen:102321", "ICD10:H35.41", "ICD9:362.63", "HP:0007992"], "information_content": 100.0}
{"id": "MONDO:0009339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 2", "equivalent_identifiers": ["MONDO:0009339", "DOID:0111069", "OMIM:235555", "orphanet:79303", "UMLS:C1856127", "MESH:C535443", "SNOMEDCT:238035000", "medgen:383840"], "information_content": 100.0}
{"id": "MONDO:0012015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus 3, congenital, autosomal dominant", "equivalent_identifiers": ["MONDO:0012015", "DOID:0111793", "OMIM:608345", "UMLS:C1842186", "MESH:C537855", "medgen:374873"], "information_content": 100.0}
{"id": "MONDO:0032566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squalene synthase deficiency", "equivalent_identifiers": ["MONDO:0032566", "OMIM:618156", "EFO:0010167", "UMLS:C4748427", "medgen:1648421"], "information_content": 100.0}
{"id": "HP:6000675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary mevalonate lactone level", "equivalent_identifiers": ["HP:6000675", "UMLS:C5937415"], "information_content": 100.0}
{"id": "HP:0033146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating methylsuccinic acid concentration", "equivalent_identifiers": ["HP:0033146", "UMLS:C5421640"], "information_content": 100.0}
{"id": "HP:0009887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of hair pigmentation", "equivalent_identifiers": ["HP:0009887", "UMLS:C4024172"], "information_content": 76.7}
{"id": "HP:6000465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine mesaconic acid level", "equivalent_identifiers": ["HP:6000465", "UMLS:C5937234"], "information_content": 100.0}
{"id": "HP:6000147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated methylhex-dienedioic level by MRS", "equivalent_identifiers": ["HP:6000147", "UMLS:C5937609"], "information_content": 100.0}
{"id": "HP:6000466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine 3-methyladipic acid level", "equivalent_identifiers": ["HP:6000466", "UMLS:C5937235"], "information_content": 100.0}
{"id": "HP:0033083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating farnesol concentration", "equivalent_identifiers": ["HP:0033083", "UMLS:C5421597"], "information_content": 100.0}
{"id": "MONDO:0013076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "attention deficit-hyperactivity disorder, susceptibility to, 7", "equivalent_identifiers": ["MONDO:0013076", "OMIM:613003", "UMLS:C2751802", "medgen:416637"], "information_content": 100.0}
{"id": "MONDO:0010173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mayer-Rokitansky-Kuster-Hauser syndrome type 1", "equivalent_identifiers": ["MONDO:0010173", "DOID:0112178", "OMIM:277000", "orphanet:247775", "UMLS:C5566555", "SNOMEDCT:1162832007", "medgen:1797978"], "information_content": 100.0}
{"id": "HP:0033131", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal medullary hyperechogenicity", "equivalent_identifiers": ["HP:0033131", "UMLS:C5421631"], "information_content": 100.0}
{"id": "MONDO:0014128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TCF12-related craniosynostosis", "equivalent_identifiers": ["MONDO:0014128", "DOID:0061011", "OMIM:615314", "orphanet:672979", "UMLS:C3715051", "medgen:811568"], "information_content": 100.0}
{"id": "HP:0011317", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right unicoronal synostosis", "equivalent_identifiers": ["HP:0011317", "UMLS:C4023416"], "information_content": 100.0}
{"id": "MONDO:0011266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonic dystrophy type 2", "equivalent_identifiers": ["MONDO:0011266", "DOID:0050759", "OMIM:602668", "orphanet:606", "UMLS:C2931689", "MEDDRA:10090452", "NCIT:C84680", "SNOMEDCT:715317001", "medgen:419137", "icd11.foundation:1005849639", "ICD10:G71.1", "ICD9:359.2"], "information_content": 92.8}
{"id": "HP:0007889", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iridescent posterior subcapsular cataract", "equivalent_identifiers": ["HP:0007889", "UMLS:C1864573"], "information_content": 100.0}
{"id": "MONDO:0011413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 9 multiple types", "equivalent_identifiers": ["MONDO:0011413", "DOID:0110266", "OMIM:604219", "UMLS:C1858679", "UMLS:C3888098", "MESH:C565136", "MESH:C565815", "medgen:347693"], "information_content": 100.0}
{"id": "MONDO:0013412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 9", "equivalent_identifiers": ["MONDO:0013412", "DOID:0110315", "OMIM:613765", "UMLS:C1861065", "MESH:C566044", "medgen:348780"], "information_content": 100.0}
{"id": "MONDO:0012034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1F", "equivalent_identifiers": ["MONDO:0012034", "DOID:0110304", "OMIM:608423", "orphanet:55595", "UMLS:C1842062", "MESH:C564242", "SNOMEDCT:719989007", "medgen:333983"], "information_content": 100.0}
{"id": "MONDO:0032839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "noonan syndrome 12", "equivalent_identifiers": ["MONDO:0032839", "DOID:0112170", "OMIM:618624", "UMLS:C5231432", "NCIT:C177120", "medgen:1684730"], "information_content": 100.0}
{"id": "MONDO:0007184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia, androgenetic, 1", "equivalent_identifiers": ["MONDO:0007184", "OMIM:109200", "UMLS:C4049090", "medgen:886756"], "information_content": 100.0}
{"id": "MONDO:0008935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia-hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0008935", "DOID:0111587", "OMIM:212840", "orphanet:1173", "UMLS:C1859305", "MESH:C565870", "SNOMEDCT:230240004", "medgen:349137"], "information_content": 95.4}
{"id": "MONDO:0014126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome 4", "equivalent_identifiers": ["MONDO:0014126", "OMIM:615300", "UMLS:C3809105", "medgen:815435"], "information_content": 100.0}
{"id": "MONDO:0007760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipoproteinemia, type II, and deafness", "equivalent_identifiers": ["MONDO:0007760", "OMIM:144300", "UMLS:C1840425", "MESH:C564170", "medgen:326732"], "information_content": 100.0}
{"id": "HP:0002635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type IV atherosclerotic lesion", "equivalent_identifiers": ["HP:0002635", "UMLS:C4703375"], "information_content": 100.0}
{"id": "MONDO:0011297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nocturnal frontal lobe epilepsy 2", "equivalent_identifiers": ["MONDO:0011297", "DOID:0060683", "OMIM:603204", "UMLS:C1864125", "MESH:C566400", "medgen:351053"], "information_content": 100.0}
{"id": "MONDO:0007704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heberden node", "equivalent_identifiers": ["MONDO:0007704", "OMIM:140600", "UMLS:C0018862", "UMLS:C3887526", "MEDDRA:10019367", "SNOMEDCT:371598009", "medgen:854385", "HP:0012313"], "information_content": 100.0}
{"id": "MONDO:0020647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome", "equivalent_identifiers": ["MONDO:0020647", "OMIM:618142", "UMLS:C4748348", "medgen:1648412"], "information_content": 100.0}
{"id": "MONDO:0014997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 20", "equivalent_identifiers": ["MONDO:0014997", "DOID:0111127", "OMIM:617271", "UMLS:C4310640", "medgen:934607"], "information_content": 100.0}
{"id": "MONDO:0013883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 13", "equivalent_identifiers": ["MONDO:0013883", "DOID:0110676", "OMIM:614750", "UMLS:C3553645", "medgen:766559"], "information_content": 100.0}
{"id": "MONDO:0007788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertriglyceridemia 1", "equivalent_identifiers": ["MONDO:0007788", "DOID:1172", "OMIM:144600", "OMIM:145750", "UMLS:C0020480", "UMLS:C5444012", "MESH:D006953", "MEDDRA:10017347", "MEDDRA:10037541", "MEDDRA:10037542", "MEDDRA:10045267", "MEDDRA:10054678", "MEDDRA:10059183", "MEDDRA:10059191", "MEDDRA:10059965", "MEDDRA:10060753", "MEDDRA:10060754", "MEDDRA:10064616", "MEDDRA:10064709", "NCIT:C34711", "SNOMEDCT:129589009", "SNOMEDCT:238085009", "SNOMEDCT:267433009", "SNOMEDCT:34528009", "medgen:1787149", "ICD10:E78.1", "ICD9:272.1"], "information_content": 100.0}
{"id": "HP:0004416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Precocious atherosclerosis", "equivalent_identifiers": ["HP:0004416", "UMLS:C4021654", "UMLS:C4280264"], "information_content": 100.0}
{"id": "HP:0001039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atheroeruptive xanthoma", "equivalent_identifiers": ["HP:0001039", "UMLS:C4025807"], "information_content": 100.0}
{"id": "MONDO:0030998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 80", "equivalent_identifiers": ["MONDO:0030998", "DOID:0070602", "OMIM:619274", "UMLS:C5543289", "medgen:1779667"], "information_content": 100.0}
{"id": "HP:6000988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cochlear nerve aplasia", "equivalent_identifiers": ["HP:6000988", "UMLS:C5970331"], "information_content": 100.0}
{"id": "MONDO:0007165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 7", "equivalent_identifiers": ["MONDO:0007165", "DOID:0050945", "OMIM:108650", "orphanet:1182", "UMLS:C1862441", "MESH:C566247", "SNOMEDCT:763669001", "medgen:354750"], "information_content": 100.0}
{"id": "MONDO:0007989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital microcoria", "equivalent_identifiers": ["MONDO:0007989", "OMIM:156600", "orphanet:566", "UMLS:C1303009", "UMLS:C4225452", "MESH:C537550", "SNOMEDCT:400962005", "medgen:227002", "HP:0007728"], "information_content": 100.0}
{"id": "MONDO:0012516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibulofacial dysostosis-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0012516", "DOID:0080196", "OMIM:610536", "orphanet:79113", "UMLS:C1864652", "MESH:C537405", "SNOMEDCT:711543008", "medgen:355264"], "information_content": 100.0}
{"id": "MONDO:0957288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 79", "equivalent_identifiers": ["MONDO:0957288", "OMIM:620393", "UMLS:C5830553", "medgen:1841189"], "information_content": 100.0}
{"id": "MONDO:0012453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 31", "equivalent_identifiers": ["MONDO:0012453", "DOID:0110782", "OMIM:610250", "orphanet:101011", "UMLS:C1853247", "MESH:C565210", "NCIT:C189921", "SNOMEDCT:763068005", "medgen:377858"], "information_content": 100.0}
{"id": "MONDO:0859187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and brain abnormalities", "equivalent_identifiers": ["MONDO:0859187", "OMIM:619512", "UMLS:C5561977", "medgen:1794187"], "information_content": 100.0}
{"id": "MONDO:0009839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive supranuclear palsy-parkinsonism syndrome", "equivalent_identifiers": ["MONDO:0009839", "OMIM:260540", "orphanet:240085", "UMLS:C1850077", "MESH:C537240", "medgen:342410"], "information_content": 100.0}
{"id": "MONDO:0013514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 3", "equivalent_identifiers": ["MONDO:0013514", "DOID:0110700", "OMIM:613981", "UMLS:C3151432", "medgen:462782"], "information_content": 100.0}
{"id": "MONDO:0014131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014131", "OMIM:615328", "orphanet:363523", "UMLS:C3809160", "SNOMEDCT:773553003", "medgen:815490"], "information_content": 100.0}
{"id": "MONDO:0009638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial myopathy with a defect in mitochondrial-protein transport", "equivalent_identifiers": ["MONDO:0009638", "OMIM:251945", "UMLS:C1855034", "MESH:C565376", "medgen:381541"], "information_content": 100.0}
{"id": "MONDO:0012909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal defects, genital hypoplasia, and intellectual disability", "equivalent_identifiers": ["MONDO:0012909", "OMIM:612447", "UMLS:C2676231", "MESH:C567306", "medgen:382795"], "information_content": 100.0}
{"id": "HP:0006501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the radius", "equivalent_identifiers": ["HP:0006501", "UMLS:C2749463"], "information_content": 86.3}
{"id": "MONDO:0013408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FADD-related immunodeficiency", "equivalent_identifiers": ["MONDO:0013408", "DOID:0061060", "OMIM:613759", "orphanet:306550", "UMLS:C3151062", "UMLS:C4509831", "SNOMEDCT:723334006", "medgen:462412", "icd11.foundation:440676168"], "information_content": 100.0}
{"id": "HP:0033196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Portal inflammation", "equivalent_identifiers": ["HP:0033196", "UMLS:C2748698"], "information_content": 100.0}
{"id": "MONDO:0008258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet signal processing defect", "equivalent_identifiers": ["MONDO:0008258", "OMIM:173590", "UMLS:C1868199", "MESH:C566796", "medgen:357448"], "information_content": 100.0}
{"id": "MONDO:0013530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 10", "equivalent_identifiers": ["MONDO:0013530", "OMIM:614022", "UMLS:C3151464", "medgen:462814"], "information_content": 100.0}
{"id": "MONDO:0700039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder exstrophy-epispadias-cloacal extrophy complex", "equivalent_identifiers": ["MONDO:0700039", "OMIM:600057", "UMLS:C1838703", "MESH:C564009", "SNOMEDCT:1230270001", "medgen:374033"], "information_content": 100.0}
{"id": "HP:0030911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid clitoris", "equivalent_identifiers": ["HP:0030911", "UMLS:C1389795"], "information_content": 100.0}
{"id": "MONDO:0032835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, nishimura type", "equivalent_identifiers": ["MONDO:0032835", "DOID:0112288", "OMIM:618618", "UMLS:C4305147", "medgen:930816", "icd11.foundation:523290419"], "information_content": 100.0}
{"id": "MONDO:0010087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sugarman brachydactyly", "equivalent_identifiers": ["MONDO:0010087", "DOID:0110979", "OMIM:272150", "orphanet:498602", "UMLS:C5399870", "SNOMEDCT:1187132007", "medgen:1777636"], "information_content": 100.0}
{"id": "HP:0005894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double first metacarpals", "equivalent_identifiers": ["HP:0005894", "UMLS:C4025112"], "information_content": 100.0}
{"id": "HP:0011926", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal placement of hallux", "equivalent_identifiers": ["HP:0011926", "UMLS:C4021110"], "information_content": 100.0}
{"id": "HP:0009857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism affecting the proximal phalanges of the hand", "equivalent_identifiers": ["HP:0009857", "UMLS:C4024178"], "information_content": 83.1}
{"id": "MONDO:0012448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 33", "equivalent_identifiers": ["MONDO:0012448", "DOID:0110784", "OMIM:610244", "UMLS:C1853251", "MESH:C565214", "medgen:339943"], "information_content": 100.0}
{"id": "MONDO:0976230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type", "equivalent_identifiers": ["MONDO:0976230", "DOID:0051046", "OMIM:621099"], "information_content": 100.0}
{"id": "HP:0100734", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vertebral epiphysis morphology", "equivalent_identifiers": ["HP:0100734", "UMLS:C4020953"], "information_content": 100.0}
{"id": "MONDO:0011045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MMEP syndrome", "equivalent_identifiers": ["MONDO:0011045", "DOID:0111803", "OMIM:601349", "orphanet:3434", "UMLS:C1832440", "MESH:C537686", "SNOMEDCT:715533002", "medgen:330469"], "information_content": 100.0}
{"id": "MONDO:0010638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis follicularis-dwarfism-cerebral atrophy syndrome", "equivalent_identifiers": ["MONDO:0010638", "OMIM:308830", "orphanet:2339", "UMLS:C1839910", "MESH:C536158", "medgen:374340"], "information_content": 100.0}
{"id": "HP:0007439", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized keratosis follicularis", "equivalent_identifiers": ["HP:0007439", "UMLS:C4024879"], "information_content": 100.0}
{"id": "MONDO:0031007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis", "equivalent_identifiers": ["MONDO:0031007", "DOID:0112290", "OMIM:619260", "orphanet:611207", "UMLS:C5543257", "SNOMEDCT:1356736002", "medgen:1780157"], "information_content": 100.0}
{"id": "HP:0012765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened cerebellar subarachnoid space", "equivalent_identifiers": ["HP:0012765", "UMLS:C4022734"], "information_content": 100.0}
{"id": "MONDO:0013880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial paresis, hereditary congenital, 3", "equivalent_identifiers": ["MONDO:0013880", "OMIM:614744", "UMLS:C3553625", "medgen:766539"], "information_content": 100.0}
{"id": "MONDO:0012867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 38", "equivalent_identifiers": ["MONDO:0012867", "DOID:0110789", "OMIM:612335", "orphanet:171617", "UMLS:C2676732", "MESH:C567349", "SNOMEDCT:783622001", "medgen:436764"], "information_content": 100.0}
{"id": "HP:0003392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "First dorsal interossei muscle weakness", "equivalent_identifiers": ["HP:0003392", "UMLS:C1832277"], "information_content": 100.0}
{"id": "HP:0003426", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "First dorsal interossei muscle atrophy", "equivalent_identifiers": ["HP:0003426", "UMLS:C1832278"], "information_content": 100.0}
{"id": "MONDO:0030972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 74", "equivalent_identifiers": ["MONDO:0030972", "DOID:0070573", "OMIM:619937", "UMLS:C5677010", "medgen:1812069"], "information_content": 100.0}
{"id": "MONDO:0024465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "surfactant metabolism dysfunction, pulmonary, 2", "equivalent_identifiers": ["MONDO:0024465", "OMIM:610913", "UMLS:C1970470", "MESH:C567048", "SNOMEDCT:1222677008", "medgen:410078"], "information_content": 100.0}
{"id": "HP:0033638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intralobular septal thickening", "equivalent_identifiers": ["HP:0033638", "UMLS:C5539736"], "information_content": 100.0}
{"id": "MONDO:0032726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 39", "equivalent_identifiers": ["MONDO:0032726", "DOID:0111475", "OMIM:618397", "orphanet:565624", "UMLS:C5193075", "SNOMEDCT:1279845005", "medgen:1683958"], "information_content": 100.0}
{"id": "MONDO:0011985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome type 4", "equivalent_identifiers": ["MONDO:0011985", "DOID:0060760", "OMIM:608184", "orphanet:101091", "UMLS:C1842413", "MESH:C564277", "NCIT:C564277", "medgen:330847"], "information_content": 100.0}
{"id": "MONDO:0008273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "actinic prurigo", "equivalent_identifiers": ["MONDO:0008273", "OMIM:174770", "orphanet:330061", "UMLS:C0406217", "UMLS:C1868090", "MESH:C566780", "MESH:C566781", "MEDDRA:10000616", "MEDDRA:10020474", "SNOMEDCT:201015007", "medgen:98348", "icd11.foundation:1528164728"], "information_content": 100.0}
{"id": "MONDO:0008979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorea, benign familial", "equivalent_identifiers": ["MONDO:0008979", "OMIM:215450", "UMLS:C1859098", "MESH:C565851", "medgen:347799"], "information_content": 100.0}
{"id": "MONDO:0010233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotopia, periventricular, X-linked dominant", "equivalent_identifiers": ["MONDO:0010233", "OMIM:300049", "UMLS:C1845235", "UMLS:C1848213", "UMLS:C1848214", "UMLS:C4551969", "MESH:C564492", "MESH:C564725", "SNOMEDCT:448227009", "medgen:376309"], "information_content": 100.0}
{"id": "MONDO:0032715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 69", "equivalent_identifiers": ["MONDO:0032715", "DOID:0081230", "OMIM:618383", "UMLS:C5193067", "medgen:1676539"], "information_content": 100.0}
{"id": "MONDO:0859328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomagnesemia 7, renal, with or without dilated cardiomyopathy", "equivalent_identifiers": ["MONDO:0859328", "DOID:0060972", "OMIM:620152", "UMLS:C5774266", "medgen:1824039"], "information_content": 100.0}
{"id": "MONDO:0008182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasopalpebral lipoma-coloboma syndrome", "equivalent_identifiers": ["MONDO:0008182", "OMIM:167730", "orphanet:2399", "UMLS:C1868660", "MESH:C538338", "SNOMEDCT:723411003", "medgen:358378"], "information_content": 100.0}
{"id": "HP:0010748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic lacrimal punctum", "equivalent_identifiers": ["HP:0010748", "UMLS:C4021230"], "information_content": 100.0}
{"id": "HP:0040164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lipomas of eyelids", "equivalent_identifiers": ["HP:0040164", "UMLS:C0347418", "UMLS:C4073133", "SNOMEDCT:188983004"], "information_content": 100.0}
{"id": "MONDO:0010408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly-telecanthus-anogenital and renal malformations syndrome", "equivalent_identifiers": ["MONDO:0010408", "DOID:0111931", "OMIM:300707", "orphanet:140952", "UMLS:C2678045", "MESH:C567475", "SNOMEDCT:723581006", "medgen:394424"], "information_content": 100.0}
{"id": "HP:0010716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-5 toe syndactyly", "equivalent_identifiers": ["HP:0010716", "UMLS:C4023723"], "information_content": 92.8}
{"id": "MONDO:0010790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MERRF syndrome", "equivalent_identifiers": ["MONDO:0010790", "DOID:310", "OMIM:545000", "orphanet:551", "UMLS:C0162672", "MESH:D017243", "MEDDRA:10062939", "MEDDRA:10067603", "MEDDRA:10069825", "NCIT:C84889", "SNOMEDCT:230426003", "SNOMEDCT:68448003", "medgen:56486", "ICD10:E88.42"], "information_content": 100.0}
{"id": "MONDO:0033375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome 17", "equivalent_identifiers": ["MONDO:0033375", "DOID:0080289", "OMIM:617926", "UMLS:C4693640", "medgen:1644516"], "information_content": 100.0}
{"id": "HP:0006145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central Y-shaped metacarpal", "equivalent_identifiers": ["HP:0006145", "UMLS:C1848597"], "information_content": 100.0}
{"id": "MONDO:0024546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic osteoarthropathy, primary, autosomal recessive, 1", "equivalent_identifiers": ["MONDO:0024546", "OMIM:259100", "UMLS:C4551679", "NCIT:C179057", "medgen:1641972"], "information_content": 100.0}
{"id": "HP:0011984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atretic gallbladder", "equivalent_identifiers": ["HP:0011984", "UMLS:C3277945"], "information_content": 100.0}
{"id": "MONDO:0009445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome", "equivalent_identifiers": ["MONDO:0009445", "OMIM:242520", "orphanet:2274", "UMLS:C1275088", "MESH:C535727", "SNOMEDCT:403779009", "medgen:266150"], "information_content": 100.0}
{"id": "MONDO:0008730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "equivalent_identifiers": ["MONDO:0008730", "OMIM:202110", "orphanet:90793", "UMLS:C0268285", "MESH:C538237", "MEDDRA:10000014", "SNOMEDCT:124220008", "medgen:82782", "icd11.foundation:587903316"], "information_content": 100.0}
{"id": "MONDO:0008452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, facioscapulohumeral type", "equivalent_identifiers": ["MONDO:0008452", "OMIM:182970", "UMLS:C1866783", "MESH:C566674", "medgen:357136"], "information_content": 100.0}
{"id": "MONDO:0010744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia with elevated serum IgA and renal disease", "equivalent_identifiers": ["MONDO:0010744", "OMIM:314000", "UMLS:C1839162", "MESH:C564051", "medgen:374149"], "information_content": 100.0}
{"id": "MONDO:0012987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 6, autosomal recessive", "equivalent_identifiers": ["MONDO:0012987", "DOID:0081138", "OMIM:612692", "UMLS:C3150207", "medgen:461557"], "information_content": 100.0}
{"id": "MONDO:0011232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine, familial hemiplegic, 2", "equivalent_identifiers": ["MONDO:0011232", "DOID:0111182", "OMIM:602481", "UMLS:C1865322", "UMLS:C1865323", "MESH:C537246", "MESH:C566540", "SNOMEDCT:1260330000", "medgen:355962"], "information_content": 100.0}
{"id": "MONDO:0010690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1A", "equivalent_identifiers": ["MONDO:0010690", "DOID:0110870", "OMIM:310500", "UMLS:C3495587", "medgen:501208"], "information_content": 100.0}
{"id": "MONDO:0007481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leri-Weill dyschondrosteosis", "equivalent_identifiers": ["MONDO:0007481", "DOID:0060847", "OMIM:127300", "orphanet:240", "UMLS:C0265309", "MESH:C537119", "MEDDRA:10071437", "MEDDRA:10071439", "NCIT:C126560", "SNOMEDCT:17818006", "medgen:75562"], "information_content": 90.9}
{"id": "HP:0031095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal humerus morphology", "equivalent_identifiers": ["HP:0031095", "UMLS:C4476966"], "information_content": 69.2}
{"id": "HP:0006459", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dorsal subluxation of ulna", "equivalent_identifiers": ["HP:0006459", "UMLS:C1851988"], "information_content": 100.0}
{"id": "HP:0003367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal femoral neck morphology", "equivalent_identifiers": ["HP:0003367", "UMLS:C4025621"], "information_content": 81.7}
{"id": "HP:0006248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited wrist movement", "equivalent_identifiers": ["HP:0006248", "UMLS:C1840088"], "information_content": 95.4}
{"id": "HP:0001832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metatarsal morphology", "equivalent_identifiers": ["HP:0001832", "UMLS:C4025745"], "information_content": 71.5}
{"id": "MONDO:0011007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphragmatic defect-limb deficiency-skull defect syndrome", "equivalent_identifiers": ["MONDO:0011007", "OMIM:601163", "orphanet:2141", "UMLS:C1832668", "UMLS:C4303589", "MESH:C563380", "SNOMEDCT:721095007", "medgen:371377"], "information_content": 100.0}
{"id": "MONDO:0032747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydatidiform mole, recurrent, 4", "equivalent_identifiers": ["MONDO:0032747", "OMIM:618432", "UMLS:C5193094", "medgen:1677210"], "information_content": 100.0}
{"id": "MONDO:0013629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 16", "equivalent_identifiers": ["MONDO:0013629", "DOID:0081189", "OMIM:614208", "UMLS:C3280154", "medgen:481784"], "information_content": 100.0}
{"id": "MONDO:0007209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weismann-Netter syndrome", "equivalent_identifiers": ["MONDO:0007209", "OMIM:112350", "orphanet:3344", "UMLS:C1862172", "MESH:C537082", "SNOMEDCT:715532007", "medgen:350610", "icd11.foundation:180927608"], "information_content": 100.0}
{"id": "HP:0003440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horizontal sacrum", "equivalent_identifiers": ["HP:0003440", "UMLS:C1850558"], "information_content": 100.0}
{"id": "OMIM:615670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SCHWANNOMATOSIS 2", "equivalent_identifiers": ["OMIM:615670", "UMLS:C3810283"]}
{"id": "OMIM:136580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)", "equivalent_identifiers": ["OMIM:136580", "UMLS:C3890175"]}
{"id": "MONDO:0032697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Houge-Janssens syndrome 3", "equivalent_identifiers": ["MONDO:0032697", "OMIM:618354", "UMLS:C5193048", "medgen:1677130"], "information_content": 100.0}
{"id": "MONDO:0012543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 5", "equivalent_identifiers": ["MONDO:0012543", "DOID:0111438", "OMIM:610708", "UMLS:C1853139", "MESH:C537126", "medgen:377837"], "information_content": 100.0}
{"id": "MONDO:0971011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class I deficiency 2", "equivalent_identifiers": ["MONDO:0971011", "OMIM:620813", "UMLS:C5935617", "medgen:1862135"], "information_content": 100.0}
{"id": "MONDO:0012230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 10", "equivalent_identifiers": ["MONDO:0012230", "OMIM:609259", "UMLS:C1836503", "MESH:C563758", "medgen:373104"], "information_content": 100.0}
{"id": "MONDO:0014901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, 8", "equivalent_identifiers": ["MONDO:0014901", "OMIM:617073", "UMLS:C4310730", "medgen:934697"], "information_content": 100.0}
{"id": "MONDO:0971001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 121 with autoinflammation", "equivalent_identifiers": ["MONDO:0971001", "DOID:0061087", "OMIM:620807", "UMLS:C5935616", "medgen:1857174"], "information_content": 100.0}
{"id": "MONDO:0009655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 3A", "equivalent_identifiers": ["MONDO:0009655", "DOID:0111395", "OMIM:252900", "orphanet:79269", "UMLS:C0086647", "NCIT:C84897", "SNOMEDCT:41572006", "medgen:39264", "icd11.foundation:182200345"], "information_content": 100.0}
{"id": "HP:4000193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity", "equivalent_identifiers": ["HP:4000193", "UMLS:C5872943"], "information_content": 100.0}
{"id": "MONDO:0013182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17p13.3 duplication syndrome", "equivalent_identifiers": ["MONDO:0013182", "DOID:0060432", "OMIM:613215", "orphanet:217385", "UMLS:C2750748", "UMLS:C3808300", "UMLS:C4304641", "MESH:C567705", "SNOMEDCT:719582007", "medgen:814630"], "information_content": 100.0}
{"id": "HP:0006167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent proximal interphalangeal joints", "equivalent_identifiers": ["HP:0006167", "UMLS:C4025085"], "information_content": 100.0}
{"id": "MONDO:0024565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia-syndactyly syndrome 1", "equivalent_identifiers": ["MONDO:0024565", "OMIM:613573", "UMLS:C3150807", "medgen:462157"], "information_content": 100.0}
{"id": "MONDO:0014044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysmorphism-conductive hearing loss-heart defect syndrome", "equivalent_identifiers": ["MONDO:0014044", "OMIM:615102", "orphanet:289553", "UMLS:C3554774", "SNOMEDCT:763279007", "medgen:767688"], "information_content": 100.0}
{"id": "MONDO:0030676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parkinsonism-dystonia 3, childhood-onset", "equivalent_identifiers": ["MONDO:0030676", "OMIM:619738", "UMLS:C5676913", "medgen:1808365"], "information_content": 100.0}
{"id": "MONDO:0010490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SSR4-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0010490", "DOID:0080574", "OMIM:300934", "orphanet:370927", "UMLS:C4012395", "SNOMEDCT:733115009", "medgen:860832"], "information_content": 100.0}
{"id": "MONDO:0012655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic epilepsy, juvenile, susceptibility to, 4", "equivalent_identifiers": ["MONDO:0012655", "DOID:0111327", "OMIM:611364", "UMLS:C1969656", "medgen:370067"], "information_content": 100.0}
{"id": "MONDO:0032742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, acute, infection-induced, susceptibility to, 9", "equivalent_identifiers": ["MONDO:0032742", "OMIM:618426", "UMLS:C5193089", "medgen:1673394"], "information_content": 100.0}
{"id": "MONDO:0010855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short tarsus-absence of lower eyelashes syndrome", "equivalent_identifiers": ["MONDO:0010855", "OMIM:600269", "orphanet:2832", "UMLS:C1838328", "MESH:C537036", "SNOMEDCT:721075001", "medgen:325001"], "information_content": 100.0}
{"id": "HP:0007697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the lower eyelids", "equivalent_identifiers": ["HP:0007697", "UMLS:C4024814", "UMLS:C4280270", "UMLS:C4280420"], "information_content": 100.0}
{"id": "MONDO:0008414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 1", "equivalent_identifiers": ["MONDO:0008414", "DOID:0070077", "OMIM:181510", "UMLS:C0220702", "medgen:65084"], "information_content": 100.0}
{"id": "HP:0008738", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partially duplicated kidney", "equivalent_identifiers": ["HP:0008738", "UMLS:C4024630"], "information_content": 100.0}
{"id": "HP:0100396", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short proximal phalanx of the 4th toe", "equivalent_identifiers": ["HP:0100396", "UMLS:C4021001"], "information_content": 100.0}
{"id": "HP:0007086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Social and occupational deterioration", "equivalent_identifiers": ["HP:0007086", "UMLS:C1866986"], "information_content": 100.0}
{"id": "MONDO:0012977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 1B", "equivalent_identifiers": ["MONDO:0012977", "DOID:0110476", "OMIM:612645", "UMLS:C2675235", "MESH:C567213", "medgen:436381"], "information_content": 100.0}
{"id": "MONDO:0009134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia type 2", "equivalent_identifiers": ["MONDO:0009134", "DOID:0111401", "OMIM:224100", "orphanet:98873", "UMLS:C1306589", "NCIT:C175991", "SNOMEDCT:68870007", "medgen:266296"], "information_content": 100.0}
{"id": "MONDO:0859347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities", "equivalent_identifiers": ["MONDO:0859347", "OMIM:620191", "UMLS:C5774285", "medgen:1824058"], "information_content": 100.0}
{"id": "OMIM:609265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TUMOR PREDISPOSITION SYNDROME 4", "equivalent_identifiers": ["OMIM:609265", "UMLS:C5882668"]}
{"id": "MONDO:0004950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stomach cancer", "equivalent_identifiers": ["MONDO:0004950", "DOID:10538", "DOID:5517", "EFO:0000178", "UMLS:C0153420", "UMLS:C0699791", "MEDDRA:10007350", "MEDDRA:10007474", "MEDDRA:10017770", "MEDDRA:10025939", "MEDDRA:10042090", "NCIT:C4911", "SNOMEDCT:187741001", "SNOMEDCT:372143007", "medgen:147066", "ICD10:C16.1", "ICD9:151.3", "HP:0012126"], "information_content": 66.4}
{"id": "MONDO:0033662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy", "equivalent_identifiers": ["MONDO:0033662", "OMIM:619076", "UMLS:C5436747", "medgen:1755716"], "information_content": 100.0}
{"id": "MONDO:0014597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 39", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014597", "DOID:0111969", "OMIM:616345", "orphanet:574918", "UMLS:C4225358", "SNOMEDCT:1269234000", "medgen:904167"], "information_content": 100.0}
{"id": "HP:0034249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe influenza infection", "equivalent_identifiers": ["HP:0034249", "UMLS:C5676829"], "information_content": 100.0}
{"id": "MONDO:0024540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jervell and Lange-Nielsen syndrome 1", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0024540", "OMIM:220400", "UMLS:C4551509", "medgen:1646925"], "information_content": 100.0}
{"id": "MONDO:0009768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculodentodigital dysplasia, autosomal recessive", "equivalent_identifiers": ["MONDO:0009768", "OMIM:257850", "UMLS:C2749477", "MESH:C567605", "medgen:412708"], "information_content": 100.0}
{"id": "HP:0005769", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fifth finger distal phalanx clinodactyly", "equivalent_identifiers": ["HP:0005769", "UMLS:C4025139", "UMLS:C4280477"], "information_content": 100.0}
{"id": "MONDO:0014295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 57", "equivalent_identifiers": ["MONDO:0014295", "DOID:0110809", "OMIM:615658", "orphanet:431329", "EFO:0009017", "UMLS:C3714897", "SNOMEDCT:723826007", "medgen:811490"], "information_content": 100.0}
{"id": "MONDO:0100490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breasts and/or nipples, aplasia or hypoplasia of, 1", "equivalent_identifiers": ["MONDO:0100490", "OMIM:113700"], "information_content": 100.0}
{"id": "HP:0006709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the nipples", "equivalent_identifiers": ["HP:0006709", "UMLS:C3150086"], "information_content": 90.9}
{"id": "HP:0010311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the breasts", "equivalent_identifiers": ["HP:0010311", "UMLS:C4023911"], "information_content": 88.2}
{"id": "DOID:0111511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanoma and neural system tumor syndrome", "equivalent_identifiers": ["DOID:0111511", "OMIM:155755", "UMLS:C1835042", "MESH:C536149", "NCIT:C176905", "SNOMEDCT:717968005"], "information_content": 100.0}
{"id": "MONDO:0033653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 18", "equivalent_identifiers": ["MONDO:0033653", "DOID:0070503", "OMIM:619062", "UMLS:C5436720", "medgen:1752734"], "information_content": 100.0}
{"id": "MONDO:0014599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 34", "equivalent_identifiers": ["MONDO:0014599", "DOID:0070064", "OMIM:616351", "UMLS:C4225156", "medgen:907277"], "information_content": 100.0}
{"id": "MONDO:0014640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 3", "equivalent_identifiers": ["MONDO:0014640", "DOID:0110068", "OMIM:616437", "UMLS:C4225326", "medgen:897127"], "information_content": 100.0}
{"id": "MONDO:0010480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "equivalent_identifiers": ["MONDO:0010480", "DOID:0051003", "OMIM:300908", "orphanet:466026", "UMLS:C1851319", "UMLS:C2720289", "MESH:C567533", "medgen:403555"], "information_content": 100.0}
{"id": "MONDO:0003656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobinuria", "equivalent_identifiers": ["MONDO:0003656", "DOID:582", "UMLS:C0019048", "MESH:D006456", "MEDDRA:10018906", "MEDDRA:10019489", "NCIT:C34677", "SNOMEDCT:68600005", "medgen:6792", "ICD10:R82.3", "ICD9:791.2", "HP:0003641"], "information_content": 90.9}
{"id": "HP:0410179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased glucose-6-phosphate dehydrogenase level in blood", "equivalent_identifiers": ["HP:0410179", "UMLS:C4703665"], "information_content": 100.0}
{"id": "MONDO:0008660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hypophosphatemic rickets", "equivalent_identifiers": ["MONDO:0008660", "DOID:0050948", "OMIM:193100", "orphanet:89937", "UMLS:C0342642", "MESH:C562791", "MEDDRA:10077956", "MEDDRA:10077960", "NCIT:C123186", "SNOMEDCT:237889002", "medgen:83346"], "information_content": 100.0}
{"id": "OMIM:620185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ATELIS SYNDROME 2", "equivalent_identifiers": ["OMIM:620185", "UMLS:C5774282"]}
{"id": "MONDO:0033007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 3", "equivalent_identifiers": ["MONDO:0033007", "DOID:0080245", "OMIM:617729", "UMLS:C4540266", "medgen:1627611"], "information_content": 100.0}
{"id": "MONDO:0012980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocrine-cerebro-osteodysplasia syndrome", "equivalent_identifiers": ["MONDO:0012980", "DOID:0060641", "OMIM:612651", "orphanet:199332", "UMLS:C2675227", "UMLS:C4509819", "MESH:C567210", "SNOMEDCT:723309006", "medgen:390740", "icd11.foundation:413985102"], "information_content": 100.0}
{"id": "HP:0007360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the cerebellum", "equivalent_identifiers": ["HP:0007360", "UMLS:C3279222"], "information_content": 82.1}
{"id": "MONDO:0008632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urticaria, aquagenic", "equivalent_identifiers": ["MONDO:0008632", "OMIM:191850", "UMLS:C0263334", "MESH:C562481", "MEDDRA:10046739", "SNOMEDCT:89870006", "medgen:82663", "HP:0410136"], "information_content": 100.0}
{"id": "MONDO:0013036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zechi-Ceide syndrome", "equivalent_identifiers": ["MONDO:0013036", "OMIM:612916", "orphanet:217017", "UMLS:C2752047", "MESH:C567865", "SNOMEDCT:773307006", "medgen:416693"], "information_content": 100.0}
{"id": "MONDO:0017078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cephalocele", "equivalent_identifiers": ["MONDO:0017078", "orphanet:268817", "UMLS:C0014065", "UMLS:C0265541", "UMLS:C4551722", "MESH:D004677", "MEDDRA:10014617", "NCIT:C124519", "NCIT:C84687", "SNOMEDCT:253101008", "SNOMEDCT:48777005", "SNOMEDCT:55999004", "medgen:4934", "icd11.foundation:1520916568", "HP:0011815"], "information_content": 82.1}
{"id": "MONDO:0008089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, chronic familial", "equivalent_identifiers": ["MONDO:0008089", "OMIM:162700", "UMLS:C2931027", "UMLS:C3665676", "MESH:C535815", "SNOMEDCT:234576008", "medgen:777137"], "information_content": 100.0}
{"id": "MONDO:0007537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lateral meningocele syndrome", "equivalent_identifiers": ["MONDO:0007537", "DOID:0111343", "OMIM:130720", "orphanet:2789", "UMLS:C1851710", "MESH:C537878", "medgen:342070"], "information_content": 100.0}
{"id": "MONDO:0008146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 1", "equivalent_identifiers": ["MONDO:0008146", "DOID:0110334", "OMIM:166200", "orphanet:216796", "UMLS:C0023931", "NCIT:C99003", "SNOMEDCT:385482004", "medgen:9799", "icd11.foundation:1897905410"], "information_content": 95.4}
{"id": "HP:6001053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebra plana", "equivalent_identifiers": ["HP:6001053", "UMLS:C5970380"], "information_content": 100.0}
{"id": "MONDO:0010169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 2A", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0010169", "DOID:0110838", "OMIM:276901", "UMLS:C1848634", "MESH:C536490", "medgen:338513"], "information_content": 100.0}
{"id": "MONDO:0000902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agenesis of the corpus callosum with peripheral neuropathy", "equivalent_identifiers": ["MONDO:0000902", "DOID:0090003", "OMIM:218000", "orphanet:1496", "UMLS:C0795950", "MESH:C536446", "SNOMEDCT:702439002", "medgen:162893", "ICD10:G60.0"], "information_content": 100.0}
{"id": "MONDO:0009703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy with abnormal lipid metabolism", "equivalent_identifiers": ["MONDO:0009703", "OMIM:255100", "UMLS:C0410214", "UMLS:C4310822", "MESH:C562935", "SNOMEDCT:240095001", "medgen:934789"], "information_content": 100.0}
{"id": "OMIM:618591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SHORT SLEEP, FAMILIAL NATURAL, 2", "equivalent_identifiers": ["OMIM:618591", "UMLS:C5231420"]}
{"id": "HP:0033063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortened sleep phase", "equivalent_identifiers": ["HP:0033063", "UMLS:C5421580"], "information_content": 100.0}
{"id": "MONDO:0012120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase phosphatase deficiency", "equivalent_identifiers": ["MONDO:0012120", "OMIM:608782", "orphanet:79246", "UMLS:C1837429", "MESH:C536258", "SNOMEDCT:1003847003", "medgen:332448", "icd11.foundation:1709497558"], "information_content": 100.0}
{"id": "MONDO:0009188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy-telangiectasia syndrome", "equivalent_identifiers": ["MONDO:0009188", "OMIM:226850", "orphanet:1951", "UMLS:C1856929", "MESH:C535497", "medgen:384017"], "information_content": 100.0}
{"id": "MONDO:0009131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Riley-Day syndrome", "equivalent_identifiers": ["MONDO:0009131", "DOID:11589", "OMIM:223900", "orphanet:1764", "UMLS:C0013364", "MESH:D004402", "MEDDRA:10016204", "MEDDRA:10039179", "NCIT:C84706", "SNOMEDCT:29159009", "medgen:41678", "icd11.foundation:831377479", "ICD10:G90.1"], "information_content": 100.0}
{"id": "HP:6000993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pupillary hypersensitivity to parasympathomimetic agents", "equivalent_identifiers": ["HP:6000993", "UMLS:C5970335"], "information_content": 100.0}
{"id": "HP:0005947", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased sensitivity to hypoxemia", "equivalent_identifiers": ["HP:0005947", "UMLS:C3806286"], "information_content": 100.0}
{"id": "MONDO:0010397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe neonatal-onset encephalopathy with microcephaly", "equivalent_identifiers": ["MONDO:0010397", "DOID:0111932", "OMIM:300673", "orphanet:209370", "UMLS:C1968556", "MESH:C566878", "NCIT:C132293", "SNOMEDCT:771303004", "medgen:409616", "icd11.foundation:240602582"], "information_content": 100.0}
{"id": "MONDO:0011846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bulimia nervosa, susceptibility to, 1", "inheritance": "Multifactorial inheritance", "equivalent_identifiers": ["MONDO:0011846", "OMIM:607499", "UMLS:C1843776", "UMLS:C4551963", "medgen:334832"], "information_content": 100.0}
{"id": "MONDO:0010685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myopia 1", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010685", "OMIM:310460", "UMLS:C1839612", "MESH:C564091", "medgen:326540"], "information_content": 100.0}
{"id": "MONDO:0008793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert", "equivalent_identifiers": ["MONDO:0008793", "OMIM:206570", "UMLS:C1859783", "MESH:C536367", "medgen:347234"], "information_content": 100.0}
{"id": "HP:0007586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Telangiectases producing 'marbled' skin", "equivalent_identifiers": ["HP:0007586", "UMLS:C4024839"], "information_content": 100.0}
{"id": "MONDO:0014401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tall stature-scoliosis-macrodactyly of the great toes syndrome", "equivalent_identifiers": ["MONDO:0014401", "DOID:0070316", "OMIM:615923", "orphanet:329191", "UMLS:C4014690", "medgen:863127"], "information_content": 100.0}
{"id": "HP:0032208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary type 1 collagen N-terminal telopeptide level", "equivalent_identifiers": ["HP:0032208", "UMLS:C5139193"], "information_content": 100.0}
{"id": "HP:0031424", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating beta-C-terminal telopeptide concentration", "equivalent_identifiers": ["HP:0031424", "UMLS:C4531130"], "information_content": 92.8}
{"id": "MONDO:0010251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 50", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0010251", "DOID:0112029", "OMIM:300115", "UMLS:C1848087", "MESH:C564713", "medgen:376278"], "information_content": 100.0}
{"id": "MONDO:0011168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus 10", "equivalent_identifiers": ["MONDO:0011168", "DOID:0110749", "OMIM:601942", "UMLS:C1866040", "MESH:C566602", "medgen:400903"], "information_content": 100.0}
{"id": "MONDO:0008984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary discoordination due to random ciliary orientation", "equivalent_identifiers": ["MONDO:0008984", "OMIM:215518", "UMLS:C0340038", "MESH:C562757", "SNOMEDCT:233667003", "medgen:83299"], "information_content": 100.0}
{"id": "MONDO:0014407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "equivalent_identifiers": ["MONDO:0014407", "OMIM:615937", "UMLS:C4014738", "medgen:863175"], "information_content": 100.0}
{"id": "MONDO:0014700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Au-Kline syndrome", "equivalent_identifiers": ["MONDO:0014700", "OMIM:616580", "orphanet:453504", "UMLS:C1858043", "UMLS:C4225274", "MESH:C565736", "SNOMEDCT:1222710008", "SNOMEDCT:722065002", "medgen:900671"], "information_content": 100.0}
{"id": "MONDO:0012296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipomyelomeningocele", "equivalent_identifiers": ["MONDO:0012296", "OMIM:609537", "UMLS:C1836022", "MESH:C537030", "SNOMEDCT:104431000119107", "medgen:332109", "icd11.foundation:1919145296", "HP:0025480"], "information_content": 100.0}
{"id": "HP:4000105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal four chamber view of the fetal heart", "equivalent_identifiers": ["HP:4000105", "UMLS:C5826852"], "information_content": 100.0}
{"id": "MONDO:0031054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 48, without situs inversus", "equivalent_identifiers": ["MONDO:0031054", "OMIM:620032", "UMLS:C5774214", "medgen:1823987"], "information_content": 100.0}
{"id": "MONDO:0044714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome", "equivalent_identifiers": ["MONDO:0044714", "OMIM:617675", "orphanet:502423", "UMLS:C4540096", "SNOMEDCT:1237514002", "medgen:1620960"], "information_content": 100.0}
{"id": "MONDO:0032806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 7, nonphotosensitive", "equivalent_identifiers": ["MONDO:0032806", "DOID:0111870", "OMIM:618546", "UMLS:C5231403", "NCIT:C173102", "medgen:1684762"], "information_content": 100.0}
{"id": "MONDO:0859252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with poor growth and skeletal anomalies", "equivalent_identifiers": ["MONDO:0859252", "OMIM:619880", "UMLS:C5676990", "medgen:1804653"], "information_content": 100.0}
{"id": "MONDO:0010456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal cell carcinoma, Xp11-associated", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0010456", "OMIM:300854", "UMLS:C3275446", "medgen:477077"], "information_content": 100.0}
{"id": "MONDO:0030503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss", "equivalent_identifiers": ["MONDO:0030503", "OMIM:619658", "UMLS:C5562043", "medgen:1794253"], "information_content": 100.0}
{"id": "HP:0410053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating gamma-aminobutyric acid concentration", "equivalent_identifiers": ["HP:0410053", "UMLS:C4703619"], "information_content": 100.0}
{"id": "MONDO:0008374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal cone dystrophy type 1", "equivalent_identifiers": ["MONDO:0008374", "DOID:0081024", "OMIM:180020", "UMLS:C1867326", "MESH:C566719", "medgen:356747"], "information_content": 100.0}
{"id": "MONDO:0013242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 11", "equivalent_identifiers": ["MONDO:0013242", "DOID:0111109", "OMIM:613375", "UMLS:C3150618", "SNOMEDCT:609578001", "medgen:461968"], "information_content": 100.0}
{"id": "MONDO:0010185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria and homocystinuria type cblD", "equivalent_identifiers": ["MONDO:0010185", "DOID:0050716", "OMIM:277410", "orphanet:79283", "UMLS:C0342724", "UMLS:C1848552", "MESH:C564743", "NCIT:C183524", "SNOMEDCT:31220004", "medgen:341253"], "information_content": 100.0}
{"id": "HP:0003210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased methylmalonyl-CoA mutase activity", "equivalent_identifiers": ["HP:0003210", "UMLS:C1848579"], "information_content": 100.0}
{"id": "MONDO:0014310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sclerosing poikiloderma with tendon and pulmonary involvement", "equivalent_identifiers": ["MONDO:0014310", "OMIM:615704", "orphanet:221043", "UMLS:C3810325", "medgen:816655", "icd11.foundation:1585528459"], "information_content": 100.0}
{"id": "MONDO:0011953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial acute necrotizing encephalopathy", "equivalent_identifiers": ["MONDO:0011953", "OMIM:608033", "orphanet:88619", "UMLS:C2675556", "UMLS:C4509836", "SNOMEDCT:723359002", "medgen:382634"], "information_content": 100.0}
{"id": "MONDO:0014921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 43", "equivalent_identifiers": ["MONDO:0014921", "DOID:0080447", "OMIM:617113", "UMLS:C4310712", "medgen:934679"], "information_content": 100.0}
{"id": "MONDO:0032604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 84", "equivalent_identifiers": ["MONDO:0032604", "DOID:0112141", "OMIM:618220", "UMLS:C4748725", "medgen:1648352"], "information_content": 100.0}
{"id": "HP:0030553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual acuity no light perception", "equivalent_identifiers": ["HP:0030553", "UMLS:C0442774", "MEDDRA:10051239", "SNOMEDCT:63063006"], "information_content": 100.0}
{"id": "MONDO:0014538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosis of extraocular muscles, congenital, 5", "equivalent_identifiers": ["MONDO:0014538", "DOID:0081020", "OMIM:616219", "UMLS:C4015552", "medgen:863989"], "information_content": 100.0}
{"id": "MONDO:0008644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "velocardiofacial syndrome", "equivalent_identifiers": ["MONDO:0008644", "DOID:12583", "OMIM:192430", "UMLS:C0220704", "MEDDRA:10066430", "medgen:65085", "ICD10:Q93.81", "ICD9:758.32"], "information_content": 100.0}
{"id": "HP:0006549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral primary pulmonary dysgenesis", "equivalent_identifiers": ["HP:0006549", "UMLS:C4021592"], "information_content": 100.0}
{"id": "MONDO:0009926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive multiple pterygium syndrome", "equivalent_identifiers": ["MONDO:0009926", "OMIM:265000", "orphanet:2990", "UMLS:C0265261", "MEDDRA:10085738", "NCIT:C101039", "SNOMEDCT:80773006", "medgen:82696", "icd11.foundation:1502158121"], "information_content": 95.4}
{"id": "HP:0008729", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of labia majora", "equivalent_identifiers": ["HP:0008729", "UMLS:C1849575"], "information_content": 100.0}
{"id": "HP:0009761", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior clefting of vertebral bodies", "equivalent_identifiers": ["HP:0009761", "UMLS:C1849579"], "information_content": 100.0}
{"id": "HP:0009757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intercrural pterygium", "equivalent_identifiers": ["HP:0009757", "UMLS:C3810471"], "information_content": 100.0}
{"id": "HP:0006446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic patella", "equivalent_identifiers": ["HP:0006446", "UMLS:C1849580"], "information_content": 100.0}
{"id": "HP:0009759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck pterygia", "equivalent_identifiers": ["HP:0009759", "UMLS:C1849577"], "information_content": 100.0}
{"id": "MONDO:0011948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 3", "equivalent_identifiers": ["MONDO:0011948", "DOID:0060272", "OMIM:608027", "orphanet:97249", "UMLS:C1842687", "MESH:C548072", "SNOMEDCT:718609003", "medgen:334225", "icd11.foundation:378477807"], "information_content": 100.0}
{"id": "MONDO:0014918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tall stature-intellectual disability-renal anomalies syndrome", "equivalent_identifiers": ["MONDO:0014918", "OMIM:617107", "orphanet:500095", "UMLS:C4310715", "SNOMEDCT:1169359006", "medgen:934682"], "information_content": 100.0}
{"id": "MONDO:0008477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, Kozlowski type", "equivalent_identifiers": ["MONDO:0008477", "DOID:0111554", "OMIM:184252", "orphanet:93314", "UMLS:C0265280", "MESH:C535797", "SNOMEDCT:111304003", "medgen:82698", "icd11.foundation:360868302"], "information_content": 100.0}
{"id": "HP:0005042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular, rachitic-like metaphyses", "equivalent_identifiers": ["HP:0005042", "UMLS:C1866700"], "information_content": 100.0}
{"id": "MONDO:0032617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 11", "equivalent_identifiers": ["MONDO:0032617", "DOID:0112089", "OMIM:618234", "UMLS:C4748769", "medgen:1648356"], "information_content": 100.0}
{"id": "MONDO:0017400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome", "equivalent_identifiers": ["MONDO:0017400", "OMIM:615710", "orphanet:293864", "UMLS:C2748662", "MESH:C567570", "medgen:411637"], "information_content": 100.0}
{"id": "MONDO:0043364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophil peroxidase deficiency", "equivalent_identifiers": ["MONDO:0043364", "OMIM:261500", "UMLS:C1850000", "MESH:C564893", "SNOMEDCT:711160007", "medgen:342386"], "information_content": 100.0}
{"id": "HP:0034253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophil nuclear hypersegmentation", "equivalent_identifiers": ["HP:0034253", "UMLS:C5676831"], "information_content": 100.0}
{"id": "MONDO:0009005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component C1r/C1s deficiency", "equivalent_identifiers": ["MONDO:0009005", "OMIM:216950", "UMLS:C3150274", "NCIT:C119991", "medgen:461624", "icd11.foundation:448435460"], "information_content": 100.0}
{"id": "MONDO:0060555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral, cardiac, renal, and limb defects syndrome 2", "equivalent_identifiers": ["MONDO:0060555", "OMIM:617661", "UMLS:C4540014", "medgen:1624065"], "information_content": 100.0}
{"id": "HP:6000776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 3-hydroxykynurenine concentration", "equivalent_identifiers": ["HP:6000776", "UMLS:C5937504"], "information_content": 100.0}
{"id": "MONDO:0010977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brody myopathy", "equivalent_identifiers": ["MONDO:0010977", "DOID:0050692", "OMIM:601003", "orphanet:53347", "UMLS:C1832918", "MESH:C536607", "SNOMEDCT:703530005", "medgen:371441"], "information_content": 100.0}
{"id": "HP:0031826", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal reflex", "equivalent_identifiers": ["HP:0031826"], "information_content": 67.6}
{"id": "MONDO:0011242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease type 4A", "equivalent_identifiers": ["MONDO:0011242", "DOID:0110145", "OMIM:602522", "UMLS:C1865270", "UMLS:C2748440", "MESH:C566530", "MESH:C567544", "SNOMEDCT:717791000", "medgen:355430"], "information_content": 100.0}
{"id": "MONDO:0012998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "faciocardiomelic syndrome", "equivalent_identifiers": ["MONDO:0012998", "OMIM:612731", "UMLS:C2674798", "MESH:C567176", "medgen:436265"], "information_content": 100.0}
{"id": "MONDO:0010037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sodium-potassium-ATPase activity of red cell", "equivalent_identifiers": ["MONDO:0010037", "OMIM:270425", "UMLS:C1849169", "medgen:376532"], "information_content": 100.0}
{"id": "MONDO:0013702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 27", "equivalent_identifiers": ["MONDO:0013702", "DOID:0081193", "OMIM:614340", "UMLS:C3280538", "medgen:482168"], "information_content": 100.0}
{"id": "MONDO:0010871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "succinic acidemia", "equivalent_identifiers": ["MONDO:0010871", "OMIM:600335", "UMLS:C1838243", "MESH:C563952", "medgen:373921"], "information_content": 100.0}
{"id": "MONDO:0010466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "equivalent_identifiers": ["MONDO:0010466", "DOID:0080139", "OMIM:300868", "orphanet:300496", "UMLS:C3275508", "medgen:477139"], "information_content": 100.0}
{"id": "HP:0031145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Starry sky appearance on hepatic sonography", "equivalent_identifiers": ["HP:0031145", "UMLS:C4477004"], "information_content": 100.0}
{"id": "HP:0007361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pons morphology", "equivalent_identifiers": ["HP:0007361", "UMLS:C4024905"], "information_content": 72.3}
{"id": "HP:0011168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal seizure with eyelid myoclonia", "equivalent_identifiers": ["HP:0011168", "UMLS:C4023500", "UMLS:C4551850"], "information_content": 100.0}
{"id": "HP:0011952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute aspiration pneumonia", "equivalent_identifiers": ["HP:0011952", "UMLS:C4023111", "SNOMEDCT:35031000119100"], "information_content": 100.0}
{"id": "HP:0012103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the mitochondrion", "equivalent_identifiers": ["HP:0012103", "UMLS:C4020732", "UMLS:C4023042"], "information_content": 68.6}
{"id": "HP:0040134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hepatic iron concentration", "equivalent_identifiers": ["HP:0040134", "UMLS:C4022420", "MEDDRA:10074352"], "information_content": 88.2}
{"id": "HP:0030903", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Grasp reflex", "equivalent_identifiers": ["HP:0030903"], "information_content": 100.0}
{"id": "HP:0011129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral fetal pyelectasis", "equivalent_identifiers": ["HP:0011129", "UMLS:C4023523"], "information_content": 100.0}
{"id": "HP:0100538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the supraorbital ridges", "equivalent_identifiers": ["HP:0100538", "UMLS:C4022027"], "information_content": 89.4}
{"id": "HP:0007190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neuronal loss in the cerebral cortex", "equivalent_identifiers": ["HP:0007190", "UMLS:C1849485"], "information_content": 92.8}
{"id": "HP:0002056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the glabella", "equivalent_identifiers": ["HP:0002056", "UMLS:C4021763"], "information_content": 90.9}
{"id": "MONDO:0011715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 2", "equivalent_identifiers": ["MONDO:0011715", "DOID:0070013", "OMIM:606744", "UMLS:C1847572", "MESH:C537534", "medgen:338264"], "information_content": 100.0}
{"id": "MONDO:0007298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 29", "equivalent_identifiers": ["MONDO:0007298", "DOID:0050978", "OMIM:117360", "orphanet:208513", "UMLS:C1861732", "MESH:C537206", "SNOMEDCT:715825009", "medgen:350085", "icd11.foundation:359640365"], "information_content": 100.0}
{"id": "HP:0030177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of peripheral nervous system electrophysiology", "equivalent_identifiers": ["HP:0030177", "UMLS:C0853150", "MEDDRA:10029175"], "information_content": 78.8}
{"id": "HP:0034435", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eye contact", "equivalent_identifiers": ["HP:0034435", "UMLS:C5775214"], "information_content": 90.9}
{"id": "HP:0007369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy/Degeneration affecting the cerebrum", "equivalent_identifiers": ["HP:0007369", "UMLS:C4024898"], "information_content": 55.0}
{"id": "HP:0033257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed ability to walk with support", "equivalent_identifiers": ["HP:0033257", "UMLS:C5539460"], "information_content": 100.0}
{"id": "HP:0012896", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal motor evoked potentials", "equivalent_identifiers": ["HP:0012896", "UMLS:C4022687"], "information_content": 92.8}
{"id": "HP:0430025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral facial palsy", "equivalent_identifiers": ["HP:0430025", "UMLS:C4073207", "SNOMEDCT:15749961000119105"], "information_content": 100.0}
{"id": "MONDO:0030844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 47", "equivalent_identifiers": ["MONDO:0030844", "DOID:0112175", "OMIM:619102", "UMLS:C5436818", "medgen:1721477"], "information_content": 100.0}
{"id": "MONDO:0014546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy due to calsequestrin and SERCA1 protein overload", "equivalent_identifiers": ["MONDO:0014546", "OMIM:616231", "orphanet:88635", "UMLS:C4015624", "UMLS:C4510368", "SNOMEDCT:724095006", "medgen:864061"], "information_content": 100.0}
{"id": "HP:0034940", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber calsequestrin 1-containing inclusion bodies", "equivalent_identifiers": ["HP:0034940", "UMLS:C5826786"], "information_content": 100.0}
{"id": "MONDO:0012250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4H", "equivalent_identifiers": ["MONDO:0012250", "DOID:0110192", "OMIM:609311", "orphanet:99954", "UMLS:C1836336", "MESH:C563740", "SNOMEDCT:715802008", "medgen:324487", "icd11.foundation:214411126"], "information_content": 100.0}
{"id": "MONDO:0968946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 115", "equivalent_identifiers": ["MONDO:0968946", "OMIM:620783", "UMLS:C5935604", "medgen:1858870"], "information_content": 100.0}
{"id": "MONDO:0013749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular septal defect 3", "equivalent_identifiers": ["MONDO:0013749", "OMIM:614432", "UMLS:C3280785", "medgen:482415"], "information_content": 100.0}
{"id": "MONDO:0800432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity, susceptibility to", "equivalent_identifiers": ["MONDO:0800432", "OMIM:617885", "UMLS:C1866432", "UMLS:C4693522", "medgen:356231"], "information_content": 100.0}
{"id": "HP:0031793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum leptin", "equivalent_identifiers": ["HP:0031793", "UMLS:C4703541"], "information_content": 95.4}
{"id": "MONDO:0011529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 13", "equivalent_identifiers": ["MONDO:0011529", "DOID:0050963", "OMIM:605259", "orphanet:98768", "UMLS:C1854488", "MESH:C537195", "SNOMEDCT:719209002", "medgen:344297", "icd11.foundation:1191033828"], "information_content": 100.0}
{"id": "MONDO:0026732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism, congenital, nongoitrous, 9", "equivalent_identifiers": ["MONDO:0026732", "DOID:0111835", "OMIM:301035", "UMLS:C5231396", "medgen:1684807"], "information_content": 100.0}
{"id": "MONDO:0012071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy type 1", "equivalent_identifiers": ["MONDO:0012071", "DOID:0111135", "OMIM:608594", "UMLS:C1720862", "medgen:318592", "ICD10:E88.1"], "information_content": 100.0}
{"id": "HP:0003809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced intrathoracic adipose tissue", "equivalent_identifiers": ["HP:0003809", "UMLS:C1837797", "UMLS:C4476537"], "information_content": 100.0}
{"id": "HP:0000877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Insulin-resistant diabetes mellitus at puberty", "equivalent_identifiers": ["HP:0000877", "UMLS:C1837792"], "information_content": 100.0}
{"id": "HP:0002833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystic angiomatosis of bone", "equivalent_identifiers": ["HP:0002833", "UMLS:C4021749"], "information_content": 100.0}
{"id": "HP:0003716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized muscular appearance from birth", "equivalent_identifiers": ["HP:0003716", "UMLS:C1837799"], "information_content": 100.0}
{"id": "HP:0025128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced intraabdominal adipose tissue", "equivalent_identifiers": ["HP:0025128", "UMLS:C4476602"], "information_content": 100.0}
{"id": "MONDO:0032917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 76", "equivalent_identifiers": ["MONDO:0032917", "DOID:0112167", "OMIM:618787", "UMLS:C5394080", "medgen:1710038"], "information_content": 100.0}
{"id": "MONDO:0976234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tubulointerstitial kidney disease, autosomal dominant 6", "equivalent_identifiers": ["MONDO:0976234", "DOID:0061121", "OMIM:621106"], "information_content": 100.0}
{"id": "HP:0032945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal interstitial inflammation", "equivalent_identifiers": ["HP:0032945", "UMLS:C5397946"], "information_content": 92.8}
{"id": "HP:0033499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular basement membrane electron dense deposits", "equivalent_identifiers": ["HP:0033499", "UMLS:C5539647"], "information_content": 92.8}
{"id": "HP:0033289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular basement membrane wrinkling", "equivalent_identifiers": ["HP:0033289", "NCIT:C82936", "UMLS:C2826579"], "information_content": 100.0}
{"id": "HP:0031264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal Bowman capsule morphology", "equivalent_identifiers": ["HP:0031264", "UMLS:C4531239"], "information_content": 77.8}
{"id": "MONDO:0010047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 5A", "equivalent_identifiers": ["MONDO:0010047", "DOID:0110810", "OMIM:270800", "orphanet:100986", "UMLS:C1849115", "MESH:C564811", "NCIT:C177250", "SNOMEDCT:763373005", "medgen:376521"], "information_content": 100.0}
{"id": "MONDO:0016419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary breast carcinoma", "equivalent_identifiers": ["MONDO:0016419", "OMIM:114480", "orphanet:227535", "UMLS:C0346153", "UMLS:C1861906", "MESH:C562840", "MESH:C566178", "NCIT:C4503", "SNOMEDCT:254843006", "medgen:87542"], "information_content": 85.5}
{"id": "MONDO:0007603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Felty syndrome", "equivalent_identifiers": ["MONDO:0007603", "DOID:11042", "OMIM:134750", "orphanet:47612", "EFO:0007269", "UMLS:C0015773", "MESH:D005258", "MEDDRA:10016386", "NCIT:C84712", "SNOMEDCT:57160007", "medgen:4674", "ICD10:M05.0", "ICD9:714.1"], "information_content": 100.0}
{"id": "MONDO:0032919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder 62", "equivalent_identifiers": ["MONDO:0032919", "DOID:0061035", "OMIM:618793", "UMLS:C5394083", "medgen:1712636"], "information_content": 100.0}
{"id": "MONDO:0008039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tropical spastic paraparesis", "equivalent_identifiers": ["MONDO:0008039", "DOID:321", "OMIM:159580", "orphanet:289326", "EFO:0007527", "UMLS:C0030481", "MESH:D015493", "MEDDRA:10020427", "MEDDRA:10020456", "MEDDRA:10044696", "MEDDRA:10060479", "MEDDRA:10067606", "NCIT:C179058", "SNOMEDCT:714279000", "medgen:18298", "icd11.foundation:1043229589", "ICD10:G04.1"], "information_content": 100.0}
{"id": "MONDO:0026721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 30", "equivalent_identifiers": ["MONDO:0026721", "DOID:0112098", "OMIM:301021", "UMLS:C4746985", "medgen:1648313"], "information_content": 100.0}
{"id": "MONDO:0009283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutaric acidemia type 3", "equivalent_identifiers": ["MONDO:0009283", "DOID:0112246", "OMIM:231690", "orphanet:35706", "UMLS:C0342873", "MESH:C562818", "SNOMEDCT:238070003", "medgen:87464"], "information_content": 100.0}
{"id": "MONDO:0013898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "karyomegalic interstitial nephritis", "equivalent_identifiers": ["MONDO:0013898", "DOID:0060911", "OMIM:614817", "orphanet:401996", "UMLS:C3553774", "NCIT:C173626", "SNOMEDCT:782738008", "medgen:766688", "ICD10:N11.8"], "information_content": 100.0}
{"id": "HP:0041050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal tubular cyst", "equivalent_identifiers": ["HP:0041050", "UMLS:C5398011"], "information_content": 100.0}
{"id": "MONDO:0957876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 10", "equivalent_identifiers": ["MONDO:0957876", "DOID:0081429", "OMIM:620542", "UMLS:C5882703", "medgen:1846713"], "information_content": 100.0}
{"id": "MONDO:0008178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1", "equivalent_identifiers": ["MONDO:0008178", "DOID:0111385", "OMIM:167320", "UMLS:C4551951", "MESH:C563476", "NCIT:C122663", "medgen:1641069"], "information_content": 100.0}
{"id": "HP:0005829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maldevelopment of radioulnar joint", "equivalent_identifiers": ["HP:0005829", "UMLS:C3149879"], "information_content": 100.0}
{"id": "HP:0005739", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior subluxation of radial head", "equivalent_identifiers": ["HP:0005739", "UMLS:C3149878"], "information_content": 100.0}
{"id": "MONDO:0007609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibromatosis, gingival, 1", "equivalent_identifiers": ["MONDO:0007609", "OMIM:135300", "UMLS:C4551558", "medgen:1647111"], "information_content": 100.0}
{"id": "MONDO:0011187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type A2", "equivalent_identifiers": ["MONDO:0011187", "OMIM:602085", "UMLS:C1865883", "MESH:C566585", "medgen:356392"], "information_content": 100.0}
{"id": "MONDO:0010547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked progressive cerebellar ataxia", "equivalent_identifiers": ["MONDO:0010547", "DOID:0111829", "OMIM:302500", "orphanet:1175", "UMLS:C0796205", "MESH:C563134", "medgen:163229"], "information_content": 100.0}
{"id": "MONDO:0013611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 62", "equivalent_identifiers": ["MONDO:0013611", "DOID:0110380", "OMIM:614181", "UMLS:C3280042", "medgen:481672"], "information_content": 100.0}
{"id": "MONDO:0859365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures", "equivalent_identifiers": ["MONDO:0859365", "OMIM:620224", "UMLS:C5830244", "medgen:1840880"], "information_content": 100.0}
{"id": "HP:0006915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inability to walk by childhood/adolescence", "equivalent_identifiers": ["HP:0006915", "UMLS:C1859200"], "information_content": 100.0}
{"id": "MONDO:0010332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0010332", "OMIM:300471", "orphanet:85280", "UMLS:C1845450", "UMLS:C5677056", "MESH:C564510", "medgen:1801270"], "information_content": 100.0}
{"id": "MONDO:0033541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 69", "equivalent_identifiers": ["MONDO:0033541", "DOID:0112006", "OMIM:618963", "UMLS:C5436498", "medgen:1735911"], "information_content": 100.0}
{"id": "MONDO:0010598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease IXa1", "equivalent_identifiers": ["MONDO:0010598", "DOID:0111042", "DOID:2751", "OMIM:306000", "UMLS:C0017927", "UMLS:C1844412", "UMLS:C3694531", "MESH:C564421", "MESH:D006015", "MEDDRA:10053242", "MEDDRA:10053253", "MEDDRA:10053256", "SNOMEDCT:297255007", "SNOMEDCT:41527003", "medgen:854172"], "information_content": 100.0}
{"id": "MONDO:0033549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 12", "equivalent_identifiers": ["MONDO:0033549", "DOID:0080840", "OMIM:618977", "UMLS:C5436534", "medgen:1720703"], "information_content": 100.0}
{"id": "HP:6000397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CSF oligoclonal immunoglobulin G bands", "equivalent_identifiers": ["HP:6000397", "UMLS:C5937183"], "information_content": 100.0}
{"id": "HP:0030586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal Ishihara plate test", "equivalent_identifiers": ["HP:0030586", "UMLS:C4073059"], "information_content": 100.0}
{"id": "HP:0020119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal retinal nerve fiber layer morphology", "equivalent_identifiers": ["HP:0020119", "UMLS:C5209222"], "information_content": 92.8}
{"id": "MONDO:0013618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial anomalies and anterior segment dysgenesis syndrome", "equivalent_identifiers": ["MONDO:0013618", "OMIM:614195", "UMLS:C3280099", "medgen:481729"], "information_content": 100.0}
{"id": "HP:0011818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasofrontal encephalocele", "equivalent_identifiers": ["HP:0011818", "UMLS:C0431291", "SNOMEDCT:253106003"], "information_content": 100.0}
{"id": "MONDO:0010797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pearson syndrome", "equivalent_identifiers": ["MONDO:0010797", "DOID:0060067", "OMIM:557000", "orphanet:699", "UMLS:C0342784", "MEDDRA:10062941", "NCIT:C115326", "SNOMEDCT:237985009", "medgen:87459", "icd11.foundation:452521132"], "information_content": 100.0}
{"id": "HP:0004864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated bone marrow ring sideroblast count", "equivalent_identifiers": ["HP:0004864", "UMLS:C5888375"], "information_content": 100.0}
{"id": "MONDO:0001466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "punctate epithelial keratoconjunctivitis", "equivalent_identifiers": ["MONDO:0001466", "DOID:12197", "UMLS:C0259799", "UMLS:C1562761", "MEDDRA:10023338", "MEDDRA:10037508", "MEDDRA:10053772", "SNOMEDCT:416069001", "SNOMEDCT:416300008", "SNOMEDCT:42513006", "medgen:736733", "ICD10:H16.14", "ICD9:370.21", "HP:0011859"], "information_content": 100.0}
{"id": "HP:0001908", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic anemia", "equivalent_identifiers": ["HP:0001908", "UMLS:C0178416", "MEDDRA:10002061", "MEDDRA:10002294", "MEDDRA:10021074", "MEDDRA:10021075", "SNOMEDCT:167923006", "SNOMEDCT:41614006"], "information_content": 92.8}
{"id": "HP:0008336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complex organic aciduria", "equivalent_identifiers": ["HP:0008336", "UMLS:C3151953"], "information_content": 100.0}
{"id": "MONDO:0012767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 11", "equivalent_identifiers": ["MONDO:0012767", "DOID:0110023", "OMIM:611953", "UMLS:C2677774", "MESH:C567450", "medgen:393833"], "information_content": 100.0}
{"id": "MONDO:0060733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "humerofemoral hypoplasia with radiotibial ray deficiency", "equivalent_identifiers": ["MONDO:0060733", "OMIM:618022", "UMLS:C4747940", "medgen:1648393"], "information_content": 100.0}
{"id": "MONDO:0014217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telangiectasia, hereditary hemorrhagic, type 5", "equivalent_identifiers": ["MONDO:0014217", "OMIM:615506", "UMLS:C3809710", "medgen:816040"], "information_content": 100.0}
{"id": "MONDO:0012843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, childhood absence, susceptibility to, 5", "equivalent_identifiers": ["MONDO:0012843", "OMIM:612269", "UMLS:C2677087", "medgen:393654"], "information_content": 100.0}
{"id": "MONDO:0013170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies", "equivalent_identifiers": ["MONDO:0013170", "DOID:0070139", "OMIM:613177", "orphanet:221145", "UMLS:C2750804", "MESH:C567716", "SNOMEDCT:784349004", "medgen:442566", "icd11.foundation:424903269"], "information_content": 100.0}
{"id": "HP:0012619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple bladder diverticula", "equivalent_identifiers": ["HP:0012619", "UMLS:C4022817"], "information_content": 100.0}
{"id": "MONDO:0013827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperekplexia 3", "equivalent_identifiers": ["MONDO:0013827", "DOID:0060698", "OMIM:614618", "UMLS:C3553288", "medgen:766202"], "information_content": 100.0}
{"id": "MONDO:0009416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoinsulinemic hypoglycemia and body hemihypertrophy", "equivalent_identifiers": ["MONDO:0009416", "DOID:0112263", "OMIM:240900", "orphanet:293964", "UMLS:C3278384", "medgen:480014"], "information_content": 100.0}
{"id": "MONDO:0013324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphedema-posterior choanal atresia syndrome", "equivalent_identifiers": ["MONDO:0013324", "OMIM:613611", "orphanet:99141", "UMLS:C3150875", "SNOMEDCT:1204421005", "medgen:462225"], "information_content": 100.0}
{"id": "MONDO:0009381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperbilirubinemia, conjugated, type 3", "equivalent_identifiers": ["MONDO:0009381", "OMIM:237550", "UMLS:C0400964", "MESH:C562885", "SNOMEDCT:235906009", "medgen:98323"], "information_content": 100.0}
{"id": "MONDO:0007454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus 2", "equivalent_identifiers": ["MONDO:0007454", "DOID:0110741", "OMIM:125852", "UMLS:C1852092", "MESH:C565100", "medgen:377588", "ICD10:E10"], "information_content": 100.0}
{"id": "MONDO:0012328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pilar cyst", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0012328", "OMIM:609649", "UMLS:C0086809", "UMLS:C1864801", "UMLS:C2266788", "MESH:C566458", "MEDDRA:10035034", "MEDDRA:10047907", "MEDDRA:10078021", "SNOMEDCT:254677004", "SNOMEDCT:419093005", "medgen:389216", "icd11.foundation:150930710", "HP:0025246"], "information_content": 100.0}
{"id": "MONDO:0032895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 83", "equivalent_identifiers": ["MONDO:0032895", "DOID:0112218", "OMIM:618744", "UMLS:C5231487", "medgen:1684784"], "information_content": 100.0}
{"id": "MONDO:0011452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 7", "equivalent_identifiers": ["MONDO:0011452", "DOID:0110704", "OMIM:604379", "EFO:0009163", "UMLS:C1836672", "UMLS:C3148823", "UMLS:C3148824", "MESH:C536973", "medgen:322969"], "information_content": 100.0}
{"id": "HP:0025249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Comedo", "equivalent_identifiers": ["HP:0025249", "UMLS:C0221228", "MEDDRA:10010101", "MEDDRA:10010103", "SNOMEDCT:247467008", "SNOMEDCT:2763006"], "information_content": 92.8}
{"id": "MONDO:0008387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring dermoid of cornea", "equivalent_identifiers": ["MONDO:0008387", "DOID:0111548", "OMIM:180550", "orphanet:91481", "UMLS:C1867155", "MESH:C535684", "SNOMEDCT:723499000", "medgen:357922", "icd11.foundation:271430543"], "information_content": 100.0}
{"id": "HP:0500070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjunctival dermolipoma", "equivalent_identifiers": ["HP:0500070", "UMLS:C4703706"], "information_content": 100.0}
{"id": "HP:0025348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal corneal limbus morphology", "equivalent_identifiers": ["HP:0025348", "UMLS:C4476718"], "information_content": 95.4}
{"id": "HP:0025612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal astigmatism", "equivalent_identifiers": ["HP:0025612", "UMLS:C0339682", "SNOMEDCT:232136008"], "information_content": 100.0}
{"id": "MONDO:0009558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher Collins syndrome 3", "equivalent_identifiers": ["MONDO:0009558", "DOID:0080791", "OMIM:248390", "UMLS:C1855433", "MESH:C535707", "medgen:340868"], "information_content": 100.0}
{"id": "MONDO:0014110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 15 multiple types", "equivalent_identifiers": ["MONDO:0014110", "DOID:0110251", "OMIM:615274", "UMLS:C3809001", "medgen:815331"], "information_content": 100.0}
{"id": "MONDO:0014221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triosephosphate isomerase deficiency", "equivalent_identifiers": ["MONDO:0014221", "DOID:0050884", "OMIM:615512", "orphanet:868", "UMLS:C0398562", "UMLS:C1860808", "MESH:C566029", "NCIT:C131652", "SNOMEDCT:234405009", "medgen:349893"], "information_content": 100.0}
{"id": "MONDO:0009747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)", "equivalent_identifiers": ["MONDO:0009747", "DOID:0080125", "OMIM:256810", "orphanet:255229", "UMLS:C1850406", "UMLS:C1850407", "MESH:C538344", "SNOMEDCT:784346006", "medgen:338045"], "information_content": 100.0}
{"id": "HP:0005010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteomyelitis leading to amputation due to slow healing fractures", "equivalent_identifiers": ["HP:0005010", "EFO:0010165", "UMLS:C1864975"], "information_content": 100.0}
{"id": "HP:0006582", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reye syndrome-like episodes", "equivalent_identifiers": ["HP:0006582", "UMLS:C1850413"], "information_content": 100.0}
{"id": "HP:0010547", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flaccidity", "equivalent_identifiers": ["HP:0010547", "NCIT:C34828", "UMLS:C0026825", "MEDDRA:10016745", "MEDDRA:10016746", "MEDDRA:10028308", "MEDDRA:10028345", "SNOMEDCT:186611004", "SNOMEDCT:397488002"], "information_content": 95.4}
{"id": "HP:0012573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Global proximal tubulopathy", "equivalent_identifiers": ["HP:0012573", "UMLS:C4022839"], "information_content": 100.0}
{"id": "HP:0100560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb asymmetry", "equivalent_identifiers": ["HP:0100560", "UMLS:C4022024"], "information_content": 92.8}
{"id": "MONDO:0013166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GABA aminotransaminase deficiency", "equivalent_identifiers": ["MONDO:0013166", "DOID:0060174", "OMIM:613163", "orphanet:2066", "UMLS:C0342708", "MESH:C535407", "SNOMEDCT:237941007", "medgen:137977"], "information_content": 100.0}
{"id": "MONDO:0010733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 2", "equivalent_identifiers": ["MONDO:0010733", "DOID:0110773", "OMIM:312920", "orphanet:99015", "UMLS:C1839264", "MESH:C536857", "SNOMEDCT:723622007", "medgen:374177"], "information_content": 100.0}
{"id": "MONDO:0054833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-tooth disease, axonal, type 2DD", "equivalent_identifiers": ["MONDO:0054833", "DOID:0111558", "OMIM:618036", "orphanet:521414", "UMLS:C4747974", "SNOMEDCT:1187620007", "medgen:1648475"], "information_content": 100.0}
{"id": "MONDO:0010607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 1, X-linked", "equivalent_identifiers": ["MONDO:0010607", "DOID:0051016", "OMIM:306955", "EFO:0009136", "UMLS:C1844020", "MESH:C538116", "medgen:336609"], "information_content": 100.0}
{"id": "HP:0012890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posteriorly placed anus", "equivalent_identifiers": ["HP:0012890", "UMLS:C4022693"], "information_content": 100.0}
{"id": "MONDO:0025701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 22", "equivalent_identifiers": ["MONDO:0025701", "DOID:0070402", "OMIM:619328", "UMLS:C5543406", "NCIT:C201587", "medgen:1787833"], "information_content": 100.0}
{"id": "MONDO:0007099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial visceral amyloidosis", "equivalent_identifiers": ["MONDO:0007099", "DOID:0050636", "OMIM:105200", "orphanet:85450", "UMLS:C0268389", "MESH:C538249", "SNOMEDCT:66451004", "medgen:82799"], "information_content": 89.4}
{"id": "MONDO:0011308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GRACILE syndrome", "equivalent_identifiers": ["MONDO:0011308", "DOID:0111455", "OMIM:603358", "orphanet:53693", "UMLS:C1864002", "MESH:C537934", "MEDDRA:10081684", "SNOMEDCT:703388005", "medgen:400428"], "information_content": 100.0}
{"id": "HP:0004925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic lactic acidosis", "equivalent_identifiers": ["HP:0004925", "UMLS:C1839437"], "information_content": 100.0}
{"id": "MONDO:0007851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus 1", "equivalent_identifiers": ["MONDO:0007851", "OMIM:148300", "UMLS:C1835677", "MESH:C563649", "medgen:372103"], "information_content": 100.0}
{"id": "MONDO:0012495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Genevieve type", "equivalent_identifiers": ["MONDO:0012495", "DOID:0080576", "OMIM:610442", "orphanet:168454", "UMLS:C1864872", "MESH:C535785", "SNOMEDCT:773303005", "medgen:355314", "icd11.foundation:1383217537"], "information_content": 100.0}
{"id": "HP:0012697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small basal ganglia", "equivalent_identifiers": ["HP:0012697", "UMLS:C4022769"], "information_content": 95.4}
{"id": "MONDO:0011651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, short stature, facial anomalies, and joint dislocations", "equivalent_identifiers": ["MONDO:0011651", "OMIM:606220", "UMLS:C1853507", "MESH:C565248", "medgen:342897"], "information_content": 100.0}
{"id": "MONDO:0010642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lesch-Nyhan phenotype with normal HGPRT", "equivalent_identifiers": ["MONDO:0010642", "OMIM:308950", "UMLS:C1839883", "medgen:374332"], "information_content": 100.0}
{"id": "MONDO:0000208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, short stature, and impaired glucose metabolism 1", "equivalent_identifiers": ["MONDO:0000208", "OMIM:616033", "UMLS:C4014997", "medgen:863434"], "information_content": 100.0}
{"id": "HP:0025383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buffalo hump", "equivalent_identifiers": ["HP:0025383", "UMLS:C0520573", "MEDDRA:10006539", "SNOMEDCT:10867005"], "information_content": 100.0}
{"id": "MONDO:0030346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 47, and lissencephaly", "equivalent_identifiers": ["MONDO:0030346", "OMIM:619466", "UMLS:C5561951", "medgen:1794161"], "information_content": 100.0}
{"id": "HP:0031602", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mucociliary clearance", "equivalent_identifiers": ["HP:0031602", "UMLS:C4703435"], "information_content": 95.4}
{"id": "MONDO:0032911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 75", "equivalent_identifiers": ["MONDO:0032911", "DOID:0112166", "OMIM:618778", "UMLS:C5394059", "medgen:1713569"], "information_content": 100.0}
{"id": "HP:0000375", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cochlea morphology", "equivalent_identifiers": ["HP:0000375", "UMLS:C4025858"], "information_content": 66.2}
{"id": "MONDO:0013595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperbiliverdinemia", "equivalent_identifiers": ["MONDO:0013595", "OMIM:614156", "orphanet:276405", "UMLS:C3279964", "SNOMEDCT:771441005", "medgen:481594"], "information_content": 100.0}
{"id": "HP:0034383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating biliverdin concentration", "equivalent_identifiers": ["HP:0034383", "UMLS:C5706200"], "information_content": 100.0}
{"id": "HP:0032003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Green urine", "equivalent_identifiers": ["HP:0032003", "UMLS:C0239778"], "information_content": 100.0}
{"id": "MONDO:0007225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibular aplasia-ectrodactyly syndrome", "equivalent_identifiers": ["MONDO:0007225", "OMIM:113310", "orphanet:1118", "UMLS:C1862100", "MESH:C537930", "medgen:396290"], "information_content": 100.0}
{"id": "MONDO:0012924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 4", "equivalent_identifiers": ["MONDO:0012924", "DOID:0111890", "OMIM:612527", "UMLS:C2675860", "MESH:C567281", "NCIT:C176913", "medgen:393906"], "information_content": 100.0}
{"id": "MONDO:0014100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1KK", "equivalent_identifiers": ["MONDO:0014100", "DOID:0110445", "OMIM:615248", "UMLS:C3714995", "UMLS:C3714998", "UMLS:C3808963", "medgen:811544"], "information_content": 100.0}
{"id": "MONDO:0009291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease III", "equivalent_identifiers": ["MONDO:0009291", "DOID:2748", "OMIM:232400", "orphanet:366", "UMLS:C0017922", "UMLS:C1968739", "UMLS:C1968740", "UMLS:C1968741", "UMLS:C1968742", "MESH:C566889", "MESH:C566890", "MESH:C566891", "MESH:C566892", "MESH:D006010", "MEDDRA:10011945", "MEDDRA:10016983", "MEDDRA:10053250", "NCIT:C84736", "SNOMEDCT:66937008", "medgen:6641", "ICD10:E74.03"], "information_content": 100.0}
{"id": "HP:6000616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle glycogen debrancher enzyme activity", "equivalent_identifiers": ["HP:6000616", "UMLS:C5937371"], "information_content": 100.0}
{"id": "MONDO:0859177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VISS syndrome", "equivalent_identifiers": ["MONDO:0859177", "OMIM:619472", "UMLS:C5561955", "NCIT:C198610", "medgen:1794165"], "information_content": 100.0}
{"id": "HP:0100802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malposition of the stomach", "equivalent_identifiers": ["HP:0100802", "UMLS:C1402983"], "information_content": 100.0}
{"id": "HP:0100310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epidural hemorrhage", "equivalent_identifiers": ["HP:0100310", "NCIT:C50555", "UMLS:C0238154", "MEDDRA:10015012", "MEDDRA:10015013", "MEDDRA:10015769", "MEDDRA:10015784", "MEDDRA:10050163", "MEDDRA:10055373", "MEDDRA:10073681", "MEDDRA:10073685", "MEDDRA:10076620", "SNOMEDCT:428268007", "SNOMEDCT:82999001", "MESH:D006407"], "information_content": 95.4}
{"id": "HP:0011587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal branching pattern of the aortic arch", "equivalent_identifiers": ["HP:0011587", "UMLS:C4023282"], "information_content": 81.3}
{"id": "HP:0011595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left aortic arch with retroesophageal right subclavian artery", "equivalent_identifiers": ["HP:0011595", "UMLS:C4023278"], "information_content": 100.0}
{"id": "HP:0100348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the proximal interphalangeal joint of the 2nd toe", "equivalent_identifiers": ["HP:0100348", "UMLS:C4021019"], "information_content": 100.0}
{"id": "HP:4000067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iliac Aneurysm", "equivalent_identifiers": ["HP:4000067", "NCIT:C197836", "UMLS:C0162870", "MEDDRA:10002352", "MEDDRA:10021336", "SNOMEDCT:13290008", "MESH:D017543"], "information_content": 100.0}
{"id": "MONDO:0011681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia type 4", "equivalent_identifiers": ["MONDO:0011681", "DOID:0050992", "OMIM:606552", "orphanet:79136", "UMLS:C1847843", "MESH:C564698", "SNOMEDCT:718754008", "medgen:376222", "icd11.foundation:1119711189"], "information_content": 100.0}
{"id": "MONDO:0015025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 51", "equivalent_identifiers": ["MONDO:0015025", "DOID:0080433", "OMIM:617339", "UMLS:C4479208", "medgen:1372686"], "information_content": 100.0}
{"id": "MONDO:0008671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 2A", "equivalent_identifiers": ["MONDO:0008671", "DOID:0110950", "OMIM:193510", "UMLS:C1860339", "MESH:C536464", "NCIT:C75011", "medgen:349786"], "information_content": 100.0}
{"id": "MONDO:0011991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 38", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0011991", "DOID:0110496", "OMIM:608219", "UMLS:C1842381", "MESH:C564273", "medgen:330838"], "information_content": 100.0}
{"id": "MONDO:0009912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prolactin deficiency with obesity and enlarged testes", "equivalent_identifiers": ["MONDO:0009912", "OMIM:264120", "UMLS:C1849698", "MESH:C564870", "medgen:341515"], "information_content": 100.0}
{"id": "MONDO:0859144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buratti-Harel syndrome", "equivalent_identifiers": ["MONDO:0859144", "OMIM:619314", "UMLS:C5543351", "medgen:1788293"], "information_content": 100.0}
{"id": "HP:0030779", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ethmocephaly", "equivalent_identifiers": ["HP:0030779", "NCIT:C124529", "UMLS:C0266680", "SNOMEDCT:55709000"], "information_content": 100.0}
{"id": "MONDO:0015010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical glycine encephalopathy", "equivalent_identifiers": ["MONDO:0015010", "OMIM:617301", "orphanet:289863", "UMLS:C4310943", "medgen:934910", "icd11.foundation:51420481"], "information_content": 100.0}
{"id": "MONDO:0013820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 15", "equivalent_identifiers": ["MONDO:0013820", "DOID:0070045", "OMIM:614608", "UMLS:C3553248", "medgen:766162"], "information_content": 100.0}
{"id": "MONDO:0014224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with autism spectrum disorder and gait instability", "equivalent_identifiers": ["MONDO:0014224", "DOID:0081203", "OMIM:615516", "orphanet:329195", "UMLS:C3809753", "medgen:816083"], "information_content": 100.0}
{"id": "MONDO:0014106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 20 with or without anosmia", "equivalent_identifiers": ["MONDO:0014106", "DOID:0090082", "OMIM:615270", "UMLS:C3808983", "medgen:815313"], "information_content": 100.0}
{"id": "MONDO:0011887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract, congenital, with mental impairment and dentate gyrus atrophy", "equivalent_identifiers": ["MONDO:0011887", "OMIM:607674", "UMLS:C1843257", "MESH:C564353", "medgen:334365"], "information_content": 100.0}
{"id": "MONDO:0014768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CADASIL 2", "equivalent_identifiers": ["MONDO:0014768", "DOID:0111036", "OMIM:616779", "UMLS:C4225211", "medgen:895965"], "information_content": 95.4}
{"id": "HP:0025012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Status cribrosum", "equivalent_identifiers": ["HP:0025012", "UMLS:C4293701"], "information_content": 100.0}
{"id": "MONDO:0012056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 9", "equivalent_identifiers": ["MONDO:0012056", "DOID:0110005", "OMIM:608553", "UMLS:C1837873", "MESH:C536603", "medgen:325277"], "information_content": 100.0}
{"id": "HP:0032123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ultra-low vision", "equivalent_identifiers": ["HP:0032123", "UMLS:C5139143"], "information_content": 89.4}
{"id": "MONDO:0010176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome type 6", "equivalent_identifiers": ["MONDO:0010176", "DOID:0060376", "OMIM:277170", "orphanet:2754", "UMLS:C2745997", "MESH:C536531", "NCIT:C124841", "SNOMEDCT:721873007", "medgen:411200"], "information_content": 100.0}
{"id": "MONDO:0013326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome 7", "equivalent_identifiers": ["MONDO:0013326", "OMIM:613615", "UMLS:C3150877", "medgen:462227"], "information_content": 100.0}
{"id": "MONDO:0011449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Salla disease", "equivalent_identifiers": ["MONDO:0011449", "OMIM:604369", "orphanet:309334", "UMLS:C1096903", "MEDDRA:10067531", "NCIT:C85067", "SNOMEDCT:87074006", "medgen:203368"], "information_content": 100.0}
{"id": "MONDO:0014213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0014213", "DOID:0070051", "OMIM:615502", "orphanet:363611", "UMLS:C3809686", "medgen:816016"], "information_content": 100.0}
{"id": "MONDO:0009746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HSAN Type IV", "equivalent_identifiers": ["MONDO:0009746", "DOID:0070146", "OMIM:256800", "orphanet:642", "UMLS:C0020074", "NCIT:C118633", "SNOMEDCT:62985007", "medgen:6915", "icd11.foundation:1831234152"], "information_content": 100.0}
{"id": "HP:0005307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postural hypotension with compensatory tachycardia", "equivalent_identifiers": ["HP:0005307", "UMLS:C1850438"], "information_content": 100.0}
{"id": "HP:0007249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased number of small peripheral myelinated nerve fibers", "equivalent_identifiers": ["HP:0007249", "UMLS:C4024916"], "information_content": 100.0}
{"id": "MONDO:0011582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 1", "equivalent_identifiers": ["MONDO:0011582", "DOID:0080133", "OMIM:605711", "orphanet:401869", "UMLS:C3276432", "SNOMEDCT:1208485009", "medgen:478062"], "information_content": 100.0}
{"id": "HP:0033418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 2-hydroxybutyric acid concentration", "equivalent_identifiers": ["HP:0033418", "UMLS:C5539578"], "information_content": 100.0}
{"id": "MONDO:0036212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraparesis-cataracts-speech delay syndrome", "equivalent_identifiers": ["MONDO:0036212", "OMIM:619338", "orphanet:615938", "UMLS:C5543440"], "information_content": 100.0}
{"id": "HP:0011172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complex febrile seizure", "equivalent_identifiers": ["HP:0011172", "UMLS:C0751057", "MEDDRA:10076425", "SNOMEDCT:433083002"], "information_content": 95.4}
{"id": "MONDO:0015016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 6", "equivalent_identifiers": ["MONDO:0015016", "DOID:0080611", "OMIM:617315", "UMLS:C4310623", "medgen:934590"], "information_content": 100.0}
{"id": "MONDO:0005579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic generalized epilepsy", "equivalent_identifiers": ["MONDO:0005579", "DOID:1827", "OMIM:600669", "OMIM.PS:600669", "EFO:0005917", "UMLS:C0270850", "UMLS:C2748800", "MESH:C562694", "MEDDRA:10071081", "MEDDRA:10071096", "SNOMEDCT:19598007", "medgen:75725"], "information_content": 76.0}
{"id": "MONDO:0971004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, hereditary systemic 1", "equivalent_identifiers": ["MONDO:0971004", "OMIM:105210", "UMLS:C2751492", "SNOMEDCT:1354544003", "medgen:414031"], "information_content": 92.8}
{"id": "HP:0007841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amyloid deposition in the vitreous humor", "equivalent_identifiers": ["HP:0007841", "UMLS:C4024784"], "information_content": 100.0}
{"id": "HP:0032070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leptomeningeal enhancement", "equivalent_identifiers": ["HP:0032070", "UMLS:C4732837"], "information_content": 100.0}
{"id": "MONDO:0010015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 7", "equivalent_identifiers": ["MONDO:0010015", "DOID:0080612", "OMIM:269400", "orphanet:289499", "UMLS:C3151617", "medgen:462967"], "information_content": 100.0}
{"id": "MONDO:0030263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 21", "equivalent_identifiers": ["MONDO:0030263", "DOID:0070407", "OMIM:619310", "UMLS:C5543334", "medgen:1778269"], "information_content": 100.0}
{"id": "MONDO:0010641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked diffuse leiomyomatosis-Alport syndrome", "equivalent_identifiers": ["MONDO:0010641", "OMIM:308940", "orphanet:1018", "UMLS:C1839884", "MESH:C537113", "medgen:333429"], "information_content": 95.4}
{"id": "HP:0006756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse leiomyomatosis", "equivalent_identifiers": ["HP:0006756", "UMLS:C4024984"], "information_content": 100.0}
{"id": "HP:0006524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tracheobronchial leiomyomatosis", "equivalent_identifiers": ["HP:0006524", "UMLS:C3806786"], "information_content": 100.0}
{"id": "MONDO:0009141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia 2", "equivalent_identifiers": ["MONDO:0009141", "DOID:0090038", "OMIM:224500", "orphanet:99657", "UMLS:C1857093", "MESH:C538006", "NCIT:C123415", "SNOMEDCT:715777007", "medgen:346511"], "information_content": 100.0}
{"id": "MONDO:0032905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 81, autosomal recessive", "equivalent_identifiers": ["MONDO:0032905", "OMIM:618768", "UMLS:C5394033", "medgen:1711668"], "information_content": 100.0}
{"id": "MONDO:0030353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 38", "equivalent_identifiers": ["MONDO:0030353", "OMIM:619476", "UMLS:C5561958", "medgen:1794168"], "information_content": 100.0}
{"id": "MONDO:0013593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 64", "equivalent_identifiers": ["MONDO:0013593", "DOID:0110585", "OMIM:614152", "UMLS:C3279948", "medgen:481578"], "information_content": 100.0}
{"id": "MONDO:0859172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic disease of fetus and newborn, RH-induced", "equivalent_identifiers": ["MONDO:0859172", "OMIM:619462", "UMLS:C0748400", "medgen:1789316"], "information_content": 100.0}
{"id": "MONDO:0007167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atelosteogenesis type I", "equivalent_identifiers": ["MONDO:0007167", "OMIM:108720", "orphanet:1190", "UMLS:C0265283", "MESH:C535396", "SNOMEDCT:725141006", "medgen:82701", "icd11.foundation:449799342"], "information_content": 100.0}
{"id": "HP:0030330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multinucleated giant chondrocytes in epiphyseal cartilage", "equivalent_identifiers": ["HP:0030330", "UMLS:C4022506"], "information_content": 100.0}
{"id": "HP:6001057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle dislocation", "equivalent_identifiers": ["HP:6001057", "UMLS:C5779595", "MEDDRA:10013166", "SNOMEDCT:157271002"], "information_content": 100.0}
{"id": "HP:0006408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal tapering femur", "equivalent_identifiers": ["HP:0006408", "UMLS:C4025049"], "information_content": 100.0}
{"id": "HP:0006495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the ulna", "equivalent_identifiers": ["HP:0006495", "UMLS:C1865571"], "information_content": 87.2}
{"id": "MONDO:0030261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 1F", "equivalent_identifiers": ["MONDO:0030261", "DOID:0112331", "OMIM:619304", "UMLS:C5543331", "medgen:1785905"], "information_content": 100.0}
{"id": "MONDO:0014465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 30", "equivalent_identifiers": ["MONDO:0014465", "DOID:0110624", "OMIM:616037", "UMLS:C4015016", "medgen:863453"], "information_content": 100.0}
{"id": "MONDO:0008670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 1", "equivalent_identifiers": ["MONDO:0008670", "DOID:0110948", "OMIM:193500", "orphanet:894", "UMLS:C1847800", "NCIT:C75008", "SNOMEDCT:1010606009", "medgen:376211", "icd11.foundation:547536187"], "information_content": 100.0}
{"id": "MONDO:0009350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Holzgreve-Wagner-Rehder syndrome", "equivalent_identifiers": ["MONDO:0009350", "DOID:0060566", "OMIM:236110", "orphanet:2167", "UMLS:C1856095", "MESH:C535327", "SNOMEDCT:783159001", "medgen:344650"], "information_content": 100.0}
{"id": "MONDO:0013894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome", "equivalent_identifiers": ["MONDO:0013894", "OMIM:614813", "orphanet:314394", "UMLS:C3542022", "SNOMEDCT:773625007", "medgen:762199"], "information_content": 100.0}
{"id": "MONDO:0026724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paganini-Miozzo syndrome", "equivalent_identifiers": ["MONDO:0026724", "DOID:0111843", "OMIM:301025", "EFO:0010261", "UMLS:C5193010", "medgen:1683361"], "information_content": 100.0}
{"id": "MONDO:0859182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short stature, Dauber-Argente type", "equivalent_identifiers": ["MONDO:0859182", "OMIM:619489", "UMLS:C5561968", "medgen:1794178"], "information_content": 100.0}
{"id": "HP:0034184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased insulin like growth factor binding protein acid labile subunit concentration", "equivalent_identifiers": ["HP:0034184", "UMLS:C5676778"], "information_content": 100.0}
{"id": "HP:0008283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fasting hyperinsulinemia", "equivalent_identifiers": ["HP:0008283", "UMLS:C1864954"], "information_content": 100.0}
{"id": "MONDO:0859360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 33", "equivalent_identifiers": ["MONDO:0859360", "DOID:0070414", "OMIM:620208", "UMLS:C5774297", "medgen:1824070"], "information_content": 100.0}
{"id": "MONDO:0032921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation", "equivalent_identifiers": ["MONDO:0032921", "OMIM:618797", "UMLS:C5394091", "medgen:1716098"], "information_content": 100.0}
{"id": "MONDO:0009776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 1", "equivalent_identifiers": ["MONDO:0009776", "DOID:0070188", "OMIM:258150", "UMLS:C0403810", "MESH:C562902", "SNOMEDCT:236803007", "medgen:140793"], "information_content": 100.0}
{"id": "MONDO:0976233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with progressive spasticity and brain abnormalities", "equivalent_identifiers": ["MONDO:0976233", "OMIM:621102"], "information_content": 100.0}
{"id": "HP:0031903", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating selenium concentration", "equivalent_identifiers": ["HP:0031903", "UMLS:C4703605"], "information_content": 92.8}
{"id": "MONDO:0008971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia calcificans Metaphysealis", "equivalent_identifiers": ["MONDO:0008971", "OMIM:215050", "UMLS:C1859147", "MESH:C565855", "medgen:347809"], "information_content": 100.0}
{"id": "MONDO:0026729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type ICC", "equivalent_identifiers": ["MONDO:0026729", "DOID:0111839", "OMIM:301031", "UMLS:C5231393", "medgen:1684742"], "information_content": 100.0}
{"id": "MONDO:0009282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple acyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0009282", "DOID:0060358", "OMIM:231680", "orphanet:26791", "UMLS:C0268596", "UMLS:C1856401", "UMLS:C1856403", "UMLS:C1856405", "MESH:D054069", "MEDDRA:10090590", "NCIT:C84907", "SNOMEDCT:22886006", "medgen:75696", "icd11.foundation:977130875", "ICD10:E71.313"], "information_content": 88.2}
{"id": "HP:0025734", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 5-hydroxyhexanoic acid level", "equivalent_identifiers": ["HP:0025734", "UMLS:C5936776"], "information_content": 100.0}
{"id": "HP:0002614", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic periportal necrosis", "equivalent_identifiers": ["HP:0002614", "UMLS:C0546389"], "information_content": 100.0}
{"id": "HP:0003647", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Electron transfer flavoprotein-ubiquinone oxidoreductase defect", "equivalent_identifiers": ["HP:0003647", "UMLS:C4025586"], "information_content": 100.0}
{"id": "MONDO:0009962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome 1", "equivalent_identifiers": ["MONDO:0009962", "OMIM:266900", "UMLS:C4551559", "SNOMEDCT:236531005", "medgen:1639722"], "information_content": 100.0}
{"id": "OMIM:162260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurofibromas, Palmar Cutaneous", "equivalent_identifiers": ["OMIM:162260", "UMLS:C1834231", "UMLS:C2931480", "MESH:C537389"]}
{"id": "HP:0006751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paraspinal neurofibroma", "equivalent_identifiers": ["HP:0006751", "UMLS:C4024985"], "information_content": 100.0}
{"id": "HP:0007576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar neurofibroma", "equivalent_identifiers": ["HP:0007576", "UMLS:C4024841"], "information_content": 100.0}
{"id": "HP:0009589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral vestibular schwannoma", "equivalent_identifiers": ["HP:0009589", "UMLS:C1136042"], "information_content": 100.0}
{"id": "MONDO:0013890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy with internal nuclei and atypical cores", "equivalent_identifiers": ["MONDO:0013890", "DOID:0111224", "OMIM:614807", "orphanet:319160", "UMLS:C4707232", "SNOMEDCT:764945007", "medgen:1642424"], "information_content": 100.0}
{"id": "MONDO:0008961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4A", "equivalent_identifiers": ["MONDO:0008961", "DOID:0110185", "OMIM:214400", "orphanet:99948", "UMLS:C1859198", "MESH:C535419", "SNOMEDCT:715796006", "medgen:347821", "icd11.foundation:1476665103"], "information_content": 100.0}
{"id": "MONDO:0012850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic nephrolithiasis/osteoporosis 1", "equivalent_identifiers": ["MONDO:0012850", "DOID:0080077", "OMIM:612286", "UMLS:C2676786", "MESH:C567363", "medgen:436776"], "information_content": 100.0}
{"id": "MONDO:0013446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 6", "equivalent_identifiers": ["MONDO:0013446", "DOID:0110329", "OMIM:613826", "UMLS:C1854260", "MESH:C565327", "medgen:344245"], "information_content": 100.0}
{"id": "HP:0032122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Very low visual acuity", "equivalent_identifiers": ["HP:0032122", "UMLS:C5139142"], "information_content": 100.0}
{"id": "HP:0025010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foveal atrophy", "equivalent_identifiers": ["HP:0025010", "UMLS:C4293702"], "information_content": 100.0}
{"id": "MONDO:0033546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, infantile-onset, biotin-responsive", "equivalent_identifiers": ["MONDO:0033546", "OMIM:618973", "UMLS:C5436520", "medgen:1771692"], "information_content": 100.0}
{"id": "MONDO:0011687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2F", "equivalent_identifiers": ["MONDO:0011687", "DOID:0110163", "OMIM:606595", "orphanet:99940", "UMLS:C1847823", "MESH:C535413", "SNOMEDCT:719510006", "medgen:335784"], "information_content": 100.0}
{"id": "MONDO:0008169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension", "equivalent_identifiers": ["MONDO:0008169", "OMIM:166990", "UMLS:C1833688", "MESH:C563478", "medgen:322254"], "information_content": 100.0}
{"id": "MONDO:0011922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonimmune chronic idiopathic neutropenia of adults", "equivalent_identifiers": ["MONDO:0011922", "OMIM:607847", "orphanet:2688", "UMLS:C1842930", "MESH:C564320", "medgen:375050"], "information_content": 100.0}
{"id": "MONDO:0010334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome", "equivalent_identifiers": ["MONDO:0010334", "DOID:0112123", "OMIM:300475", "orphanet:369939", "UMLS:C3806634", "MESH:C564508", "SNOMEDCT:773415005", "medgen:812964"], "information_content": 100.0}
{"id": "MONDO:0013612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geleophysic dysplasia 2", "equivalent_identifiers": ["MONDO:0013612", "DOID:0111726", "OMIM:614185", "UMLS:C3280054", "medgen:481684"], "information_content": 100.0}
{"id": "MONDO:0010753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac valvular dysplasia, X-linked", "equivalent_identifiers": ["MONDO:0010753", "DOID:0111765", "OMIM:314400", "orphanet:555877", "UMLS:C0262436", "UMLS:C4273726", "MESH:C535576", "NCIT:C173469", "SNOMEDCT:1186709006", "SNOMEDCT:718128009", "medgen:78083"], "information_content": 100.0}
{"id": "HP:0011580", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short chordae tendineae of the mitral valve", "equivalent_identifiers": ["HP:0011580", "UMLS:C4023288"], "information_content": 100.0}
{"id": "HP:0006692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short chordae tendineae of the tricuspid valve", "equivalent_identifiers": ["HP:0006692", "UMLS:C4025001"], "information_content": 100.0}
{"id": "MONDO:0011184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood apraxia of speech", "equivalent_identifiers": ["MONDO:0011184", "DOID:0111275", "OMIM:602081", "orphanet:209908", "UMLS:C0750927", "UMLS:C5441570", "SNOMEDCT:229703009", "medgen:152917", "icd11.foundation:1590154825"], "information_content": 100.0}
{"id": "HP:0006977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deficit in grammar", "equivalent_identifiers": ["HP:0006977", "UMLS:C4024956"], "information_content": 100.0}
{"id": "HP:0007301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oromotor apraxia", "equivalent_identifiers": ["HP:0007301", "UMLS:C4021845"], "information_content": 100.0}
{"id": "HP:0002546", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incomprehensible speech", "equivalent_identifiers": ["HP:0002546", "UMLS:C1838027"], "information_content": 100.0}
{"id": "MONDO:0012856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birk-Barel syndrome", "equivalent_identifiers": ["MONDO:0012856", "DOID:0050675", "OMIM:612292", "orphanet:166108", "UMLS:C2676770", "MESH:C567357", "SNOMEDCT:764861005", "medgen:393583"], "information_content": 100.0}
{"id": "MONDO:0012764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RIDDLE syndrome", "equivalent_identifiers": ["MONDO:0012764", "DOID:0090113", "OMIM:611943", "orphanet:420741", "EFO:0009055", "UMLS:C2677792", "MESH:C567453", "SNOMEDCT:783099001", "medgen:394368"], "information_content": 100.0}
{"id": "MONDO:0957820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIbb", "equivalent_identifiers": ["MONDO:0957820", "DOID:0051047", "OMIM:620546", "UMLS:C5882705", "medgen:1846347"], "information_content": 100.0}
{"id": "MONDO:0007487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyslexia, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0007487", "OMIM:127700", "UMLS:C1851967", "medgen:338828"], "information_content": 100.0}
{"id": "MONDO:0008907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PMM2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0008907", "DOID:0080552", "OMIM:212065", "orphanet:79318", "UMLS:C0349653", "MESH:C535739", "NCIT:C126868", "SNOMEDCT:277893002", "SNOMEDCT:459063003", "medgen:138111"], "information_content": 100.0}
{"id": "HP:0007552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal subcutaneous fat tissue distribution", "equivalent_identifiers": ["HP:0007552", "UMLS:C1859347"], "information_content": 100.0}
{"id": "HP:6000781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue phosphomannomutase activity", "equivalent_identifiers": ["HP:6000781", "UMLS:C5937509"], "information_content": 100.0}
{"id": "MONDO:0010447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 19", "equivalent_identifiers": ["MONDO:0010447", "DOID:0112019", "OMIM:300844", "UMLS:C0796225", "MESH:C563141", "medgen:208676"], "information_content": 100.0}
{"id": "MONDO:0011721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal myopathy with anterior tibial onset", "equivalent_identifiers": ["MONDO:0011721", "DOID:0111187", "OMIM:606768", "orphanet:178400", "UMLS:C1847532", "MESH:C564664", "SNOMEDCT:782675008", "medgen:335706", "icd11.foundation:651559966"], "information_content": 100.0}
{"id": "MONDO:0859209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zaki syndrome", "equivalent_identifiers": ["MONDO:0859209", "DOID:0070473", "OMIM:619648", "UMLS:C5562037", "medgen:1794247"], "information_content": 100.0}
{"id": "HP:0010746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the phalanges of the toes", "equivalent_identifiers": ["HP:0010746", "UMLS:C4023715"], "information_content": 80.2}
{"id": "HP:0012488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intraventricular arachnoid cyst", "equivalent_identifiers": ["HP:0012488", "UMLS:C4022883"], "information_content": 100.0}
{"id": "MONDO:0033365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 56", "equivalent_identifiers": ["MONDO:0033365", "DOID:0080282", "OMIM:617665", "UMLS:C4540034", "medgen:1621755"], "information_content": 100.0}
{"id": "MONDO:0011839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Newfoundland cone-rod dystrophy", "equivalent_identifiers": ["MONDO:0011839", "DOID:0111015", "OMIM:607476", "UMLS:C1843815", "MESH:C564391", "medgen:334840"], "information_content": 100.0}
{"id": "MONDO:0014032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A1C", "equivalent_identifiers": ["MONDO:0014032", "DOID:0110977", "OMIM:615072", "UMLS:C3554446", "medgen:767360"], "information_content": 100.0}
{"id": "HP:0009439", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short middle phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009439", "UMLS:C4021474"], "information_content": 100.0}
{"id": "MONDO:0010184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria and homocystinuria type cblC", "equivalent_identifiers": ["MONDO:0010184", "DOID:0050715", "OMIM:277400", "orphanet:79282", "UMLS:C1848561", "UMLS:C4693974", "NCIT:C142174", "SNOMEDCT:74653006", "medgen:341256"], "information_content": 100.0}
{"id": "MONDO:0032613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 8", "equivalent_identifiers": ["MONDO:0032613", "DOID:0112081", "OMIM:618230", "UMLS:C4748766", "medgen:1648411"], "information_content": 100.0}
{"id": "MONDO:0012697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 7", "equivalent_identifiers": ["MONDO:0012697", "DOID:0060925", "OMIM:611572", "UMLS:C1969044", "MESH:C566913", "medgen:409738"], "information_content": 100.0}
{"id": "HP:0040121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the acoustic reflex", "equivalent_identifiers": ["HP:0040121", "UMLS:C4022426"], "information_content": 92.8}
{"id": "HP:0011474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Childhood onset sensorineural hearing impairment", "equivalent_identifiers": ["HP:0011474", "UMLS:C4023340"], "information_content": 90.9}
{"id": "MONDO:0012534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 4", "equivalent_identifiers": ["MONDO:0012534", "DOID:0111494", "OMIM:610678", "orphanet:254925", "UMLS:C1857682", "MESH:C565690", "SNOMEDCT:766876004", "medgen:387884"], "information_content": 100.0}
{"id": "MONDO:0032608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 3", "equivalent_identifiers": ["MONDO:0032608", "DOID:0112093", "OMIM:618224", "UMLS:C4748752", "medgen:1648346"], "information_content": 100.0}
{"id": "MONDO:0011141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megaloblastic anemia, folate-responsive", "equivalent_identifiers": ["MONDO:0011141", "OMIM:601775", "UMLS:C2749656", "medgen:440842", "HP:0004851"], "information_content": 100.0}
{"id": "MONDO:0014532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant mitochondrial myopathy with exercise intolerance", "equivalent_identifiers": ["MONDO:0014532", "DOID:0081357", "OMIM:616209", "orphanet:457050", "UMLS:C4015513", "SNOMEDCT:1222644009", "medgen:863950"], "information_content": 100.0}
{"id": "MONDO:0007763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonpapillary renal cell carcinoma", "equivalent_identifiers": ["MONDO:0007763", "DOID:0050387", "OMIM:144700", "UMLS:C2750825"], "information_content": 89.4}
{"id": "MONDO:0013241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 30", "equivalent_identifiers": ["MONDO:0013241", "DOID:0050979", "OMIM:613371", "orphanet:211017", "UMLS:C2936793", "MESH:C575214", "SNOMEDCT:719253007", "medgen:424821", "icd11.foundation:716324960"], "information_content": 100.0}
{"id": "MONDO:0007939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0007939", "OMIM:154275", "UMLS:C2930981", "MESH:C535695", "medgen:419301"], "information_content": 100.0}
{"id": "HP:0011440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alcohol-induced rhabdomyolysis", "equivalent_identifiers": ["HP:0011440", "UMLS:C4023355"], "information_content": 100.0}
{"id": "HP:0003558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Viral infection-induced rhabdomyolysis", "equivalent_identifiers": ["HP:0003558", "UMLS:C4025595"], "information_content": 100.0}
{"id": "HP:0011439", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anesthetic-induced rhabdomylosis", "equivalent_identifiers": ["HP:0011439", "UMLS:C4023356"], "information_content": 100.0}
{"id": "MONDO:0013719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia 4", "equivalent_identifiers": ["MONDO:0013719", "DOID:0080806", "OMIM:614378", "UMLS:C3280616", "medgen:482246"], "information_content": 100.0}
{"id": "HP:0010174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad phalanx of the toes", "equivalent_identifiers": ["HP:0010174", "UMLS:C4023986"], "information_content": 79.3}
{"id": "HP:6001070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subdural hygroma", "equivalent_identifiers": ["HP:6001070", "UMLS:C0751533", "MEDDRA:10048626", "MEDDRA:10058916", "SNOMEDCT:89511000119106"], "information_content": 100.0}
{"id": "MONDO:0014029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 14", "equivalent_identifiers": ["MONDO:0014029", "DOID:0110343", "OMIM:615066", "UMLS:C3554428", "medgen:767342"], "information_content": 100.0}
{"id": "HP:0031425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating beta-C-terminal telopeptide concentration", "equivalent_identifiers": ["HP:0031425", "UMLS:C4531129"], "information_content": 100.0}
{"id": "MONDO:0008576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toe, fifth, number of phalanges 1N", "equivalent_identifiers": ["MONDO:0008576", "OMIM:189000", "UMLS:C1861062", "medgen:348255"], "information_content": 100.0}
{"id": "MONDO:0011531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 2", "equivalent_identifiers": ["MONDO:0011531", "DOID:0060580", "OMIM:605275", "UMLS:C1854469", "MESH:C548081", "NCIT:C176930", "medgen:344290"], "information_content": 100.0}
{"id": "MONDO:0010452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 90", "equivalent_identifiers": ["MONDO:0010452", "DOID:0112041", "OMIM:300850", "UMLS:C3275443", "medgen:477074"], "information_content": 100.0}
{"id": "MONDO:0060564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HELIX syndrome", "equivalent_identifiers": ["MONDO:0060564", "OMIM:617671", "orphanet:528105", "UMLS:C4522164", "SNOMEDCT:1217380005", "medgen:1621482"], "information_content": 100.0}
{"id": "MONDO:0859253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoporosis, childhood- or juvenile-onset, with developmental delay", "equivalent_identifiers": ["MONDO:0859253", "OMIM:619884", "UMLS:C5676992", "medgen:1802083"], "information_content": 100.0}
{"id": "MONDO:0012111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 8", "equivalent_identifiers": ["MONDO:0012111", "DOID:0110314", "OMIM:608751", "UMLS:C1837471", "MESH:C563866", "medgen:324806"], "information_content": 100.0}
{"id": "OMIM:614350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5", "equivalent_identifiers": ["OMIM:614350", "UMLS:C1833477", "MESH:C563456"]}
{"id": "MONDO:0007777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotaurinemic retinal degeneration and cardiomyopathy", "equivalent_identifiers": ["MONDO:0007777", "OMIM:145350", "UMLS:C1840385", "UMLS:C5542181", "MESH:C564157", "medgen:1779589"], "information_content": 100.0}
{"id": "HP:0500182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypotaurinemia", "equivalent_identifiers": ["HP:0500182", "UMLS:C5139567"], "information_content": 95.4}
{"id": "MONDO:0012640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4J", "equivalent_identifiers": ["MONDO:0012640", "DOID:0110184", "OMIM:611228", "orphanet:139515", "UMLS:C1970011", "MESH:C566984", "NCIT:C134954", "SNOMEDCT:720638000", "medgen:370808", "icd11.foundation:905681283"], "information_content": 100.0}
{"id": "MONDO:0010865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoaminopterin syndrome", "equivalent_identifiers": ["MONDO:0010865", "OMIM:600325", "orphanet:221120", "UMLS:C0795939", "MESH:C535823", "SNOMEDCT:715867000", "medgen:163196", "icd11.foundation:893045173"], "information_content": 100.0}
{"id": "HP:0005676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rudimentary postaxial polydactyly of hands", "equivalent_identifiers": ["HP:0005676", "UMLS:C4025158"], "information_content": 100.0}
{"id": "MONDO:0012118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG7-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012118", "DOID:0070257", "OMIM:608779", "orphanet:79333", "UMLS:C2931010", "MESH:C535754", "SNOMEDCT:717773005", "medgen:419311"], "information_content": 100.0}
{"id": "MONDO:0971171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, limb-girdle, autosomal recessive 29", "equivalent_identifiers": ["MONDO:0971171", "DOID:0061134", "OMIM:620793", "UMLS:C5935611", "medgen:1861320"], "information_content": 100.0}
{"id": "HP:0020202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal Z disk morphology", "equivalent_identifiers": ["HP:0020202", "UMLS:C5397583"], "information_content": 92.8}
{"id": "HP:0030227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accumulation of muscle fiber myotilin", "equivalent_identifiers": ["HP:0030227", "UMLS:C4022571"], "information_content": 100.0}
{"id": "MONDO:0014540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1H", "equivalent_identifiers": ["MONDO:0014540", "DOID:0110064", "OMIM:616221", "UMLS:C4015557", "medgen:863994"], "information_content": 100.0}
{"id": "MONDO:0030860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 5C", "equivalent_identifiers": ["MONDO:0030860", "DOID:0081401", "OMIM:619112", "UMLS:C5436838", "medgen:1760720"], "information_content": 100.0}
{"id": "HP:0010875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chaddock reflex", "equivalent_identifiers": ["HP:0010875", "UMLS:C1531651", "SNOMEDCT:413813004"], "information_content": 100.0}
{"id": "MONDO:0007237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gigantomastia", "inheritance": "Sex-limited autosomal dominant", "equivalent_identifiers": ["MONDO:0007237", "OMIM:113670", "orphanet:180176", "UMLS:C0405471", "MESH:C536821", "SNOMEDCT:198113009", "medgen:140798"], "information_content": 100.0}
{"id": "MONDO:0014325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachyonychia congenita 4", "equivalent_identifiers": ["MONDO:0014325", "OMIM:615728", "UMLS:C3714949", "medgen:811524"], "information_content": 100.0}
{"id": "MONDO:0013753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2P", "equivalent_identifiers": ["MONDO:0013753", "DOID:0110169", "OMIM:614436", "orphanet:300319", "orphanet:99941", "UMLS:C1837805", "UMLS:C3280797", "SNOMEDCT:719511005", "SNOMEDCT:782826009", "medgen:482427"], "information_content": 100.0}
{"id": "MONDO:0011477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, 3", "equivalent_identifiers": ["MONDO:0011477", "OMIM:604625", "UMLS:C1970291", "MESH:C567036", "medgen:410035"], "information_content": 100.0}
{"id": "HP:0001231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fingernail morphology", "equivalent_identifiers": ["HP:0001231", "UMLS:C4021782"], "information_content": 79.0}
{"id": "HP:0011055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of permanent molar", "equivalent_identifiers": ["HP:0011055", "UMLS:C4023563", "UMLS:C4280347"], "information_content": 92.8}
{"id": "HP:0012225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oligodontia of primary teeth", "equivalent_identifiers": ["HP:0012225", "UMLS:C4022997", "UMLS:C4280316"], "information_content": 100.0}
{"id": "MONDO:0009567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marinesco-Sjogren syndrome", "equivalent_identifiers": ["MONDO:0009567", "DOID:0080195", "OMIM:248800", "orphanet:559", "UMLS:C0024814", "SNOMEDCT:80734006", "medgen:6222"], "information_content": 95.4}
{"id": "MONDO:0013744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 37", "equivalent_identifiers": ["MONDO:0013744", "DOID:0110252", "OMIM:614422", "UMLS:C3280758", "medgen:482388"], "information_content": 100.0}
{"id": "MONDO:0009770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3MC syndrome 1", "equivalent_identifiers": ["MONDO:0009770", "DOID:0060575", "OMIM:257920", "EFO:1001978", "UMLS:C0796059", "MESH:C537738", "medgen:167100"], "information_content": 100.0}
{"id": "HP:0000593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal anterior chamber morphology", "equivalent_identifiers": ["HP:0000593", "UMLS:C3152182", "SNOMEDCT:204142009"], "information_content": 72.8}
{"id": "HP:6000808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periumbilical depression", "equivalent_identifiers": ["HP:6000808", "UMLS:C4538651"], "information_content": 100.0}
{"id": "MONDO:0012530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome", "equivalent_identifiers": ["MONDO:0012530", "OMIM:610644", "orphanet:85112", "UMLS:C2674504", "UMLS:C3149931", "MESH:C567165", "medgen:461281"], "information_content": 100.0}
{"id": "MONDO:0033864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0033864", "OMIM:618218", "orphanet:522077", "UMLS:C4748715", "SNOMEDCT:1217371005", "medgen:1648431"], "information_content": 100.0}
{"id": "MONDO:0022697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "athetoid cerebral palsy", "equivalent_identifiers": ["MONDO:0022697", "DOID:0050672", "UMLS:C0270742", "MEDDRA:10068804", "MEDDRA:10086398", "NCIT:C97169", "SNOMEDCT:230780007", "SNOMEDCT:75019001", "medgen:82853", "HP:0011445"], "information_content": 100.0}
{"id": "MONDO:0033485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 19 with or without polydactyly", "equivalent_identifiers": ["MONDO:0033485", "DOID:0080295", "OMIM:617895", "UMLS:C4693524", "medgen:1635837"], "information_content": 100.0}
{"id": "OMIM:616553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7", "equivalent_identifiers": ["OMIM:616553", "UMLS:C4225283", "UMLS:C4225284", "NCIT:C176924"], "information_content": 100.0}
{"id": "MONDO:0010867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PARC syndrome", "equivalent_identifiers": ["MONDO:0010867", "OMIM:600331", "orphanet:2825", "UMLS:C1838256", "MESH:C537174", "SNOMEDCT:771186004", "medgen:373923"], "information_content": 100.0}
{"id": "MONDO:0013706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 23", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013706", "DOID:0081196", "OMIM:614344", "UMLS:C3280542", "medgen:482172"], "information_content": 100.0}
{"id": "MONDO:0007576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal cancer", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0007576", "DOID:5041", "OMIM:133239", "UMLS:C0153413", "UMLS:C0153414", "UMLS:C0153415", "UMLS:C0153416", "UMLS:C0345779", "UMLS:C0546837", "UMLS:C2751126", "UMLS:C3149254", "UMLS:C3149255", "MEDDRA:10015362", "MEDDRA:10015363", "MEDDRA:10025899", "MEDDRA:10025900", "MEDDRA:10025901", "MEDDRA:10026104", "MEDDRA:10026105", "MEDDRA:10026150", "MEDDRA:10026151", "MEDDRA:10026180", "MEDDRA:10026181", "MEDDRA:10026182", "MEDDRA:10026583", "MEDDRA:10026584", "MEDDRA:10030151", "MEDDRA:10030152", "MEDDRA:10030176", "NCIT:C3533", "NCIT:C3534", "NCIT:C3535", "NCIT:C7478", "SNOMEDCT:187725002", "SNOMEDCT:187726001", "SNOMEDCT:187727005", "SNOMEDCT:254547001", "SNOMEDCT:363402007", "medgen:107792", "ICD10:C15.3", "ICD10:C15.4", "ICD10:C15.5", "ICD9:150.2", "ICD9:150.3", "ICD9:150.4", "ICD9:150.5", "ICD9:150.8"], "information_content": 64.8}
{"id": "MONDO:0010474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "linear skin defects with multiple congenital anomalies 2", "equivalent_identifiers": ["MONDO:0010474", "DOID:0111877", "OMIM:300887", "UMLS:C3550921", "medgen:763835"], "information_content": 100.0}
{"id": "HP:0007398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetric, linear skin defects", "equivalent_identifiers": ["HP:0007398", "UMLS:C4024888"], "information_content": 100.0}
{"id": "MONDO:0009459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "channelopathy-associated congenital insensitivity to pain, autosomal recessive", "equivalent_identifiers": ["MONDO:0009459", "OMIM:243000", "orphanet:88642", "UMLS:C1855739", "MESH:C565467", "medgen:344563"], "information_content": 100.0}
{"id": "MONDO:0008147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 2", "equivalent_identifiers": ["MONDO:0008147", "DOID:0110341", "OMIM:166210", "orphanet:216804", "UMLS:C0268358", "UMLS:C0268360", "MESH:C536042", "NCIT:C99001", "SNOMEDCT:205496008", "SNOMEDCT:254110009", "SNOMEDCT:7134007", "SNOMEDCT:86470003", "medgen:75673", "icd11.foundation:2024049157"], "information_content": 100.0}
{"id": "HP:0005623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent ossification of calvaria", "equivalent_identifiers": ["HP:0005623", "UMLS:C4021629"], "information_content": 100.0}
{"id": "MONDO:0008985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia with transposition of ciliary microtubules", "equivalent_identifiers": ["MONDO:0008985", "OMIM:215520", "UMLS:C2673817", "MESH:C567137", "medgen:388736"], "information_content": 100.0}
{"id": "MONDO:0011487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huntington disease-like 3", "equivalent_identifiers": ["MONDO:0011487", "OMIM:604802", "orphanet:157946", "UMLS:C1858114", "MESH:C565747", "SNOMEDCT:770939009", "medgen:347622"], "information_content": 100.0}
{"id": "MONDO:0008271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly of an index finger", "equivalent_identifiers": ["MONDO:0008271", "OMIM:174600", "orphanet:93337", "UMLS:C1868113", "MESH:C566784", "SNOMEDCT:723446006", "medgen:357422", "icd11.foundation:982050714"], "information_content": 92.8}
{"id": "MONDO:0008554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocythemia 1", "equivalent_identifiers": ["MONDO:0008554", "OMIM:187950", "UMLS:C3277671", "medgen:479301"], "information_content": 100.0}
{"id": "MONDO:0009704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine palmitoyl transferase II deficiency, myopathic form", "equivalent_identifiers": ["MONDO:0009704", "OMIM:255110", "orphanet:228302", "UMLS:C1833508", "MESH:C563461", "medgen:371584"], "information_content": 100.0}
{"id": "MONDO:0859241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, with progressive microcephaly", "equivalent_identifiers": ["MONDO:0859241", "OMIM:619847", "UMLS:C5676972", "medgen:1801540"], "information_content": 100.0}
{"id": "MONDO:0010688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory neuropathy X-linked", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0010688", "DOID:0070159", "OMIM:310470", "UMLS:C1839602", "MESH:C564090", "medgen:333359"], "information_content": 100.0}
{"id": "MONDO:0010080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial infantile bilateral striatal necrosis", "equivalent_identifiers": ["MONDO:0010080", "OMIM:271930", "orphanet:225154", "UMLS:C4087174", "MEDDRA:10077450", "SNOMEDCT:1208478005", "medgen:1672478", "icd11.foundation:1873983370"], "information_content": 95.4}
{"id": "MONDO:0975838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 75", "equivalent_identifiers": ["MONDO:0975838", "DOID:0061048", "OMIM:620988", "UMLS:C5975482"], "information_content": 100.0}
{"id": "MONDO:0008441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia with associated extrapyramidal signs", "equivalent_identifiers": ["MONDO:0008441", "OMIM:182800", "UMLS:C1866852", "MESH:C566681", "medgen:355815"], "information_content": 100.0}
{"id": "MONDO:0012538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 7", "equivalent_identifiers": ["MONDO:0012538", "DOID:0110934", "OMIM:610687", "UMLS:C1853154", "MESH:C565198", "medgen:343979"], "information_content": 100.0}
{"id": "MONDO:0011169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome", "equivalent_identifiers": ["MONDO:0011169", "OMIM:601952", "orphanet:281201", "UMLS:C1866029", "MESH:C566600", "SNOMEDCT:763775000", "medgen:356430"], "information_content": 100.0}
{"id": "HP:0007490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear arrays of macular hyperkeratoses in flexural areas", "equivalent_identifiers": ["HP:0007490", "UMLS:C1866031"], "information_content": 100.0}
{"id": "MONDO:0958242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 90", "equivalent_identifiers": ["MONDO:0958242", "DOID:0070589", "OMIM:620744", "UMLS:C5935587", "medgen:1853928"], "information_content": 100.0}
{"id": "MONDO:0009345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histidinemia", "equivalent_identifiers": ["MONDO:0009345", "DOID:0060168", "OMIM:235800", "orphanet:2157", "UMLS:C0220992", "UMLS:C5886736", "MESH:C538320", "SNOMEDCT:124628005", "SNOMEDCT:410058007", "medgen:113135", "icd11.foundation:261052955", "HP:0010906"], "information_content": 95.4}
{"id": "HP:6000621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary N-tau-ribosylhistidine level", "equivalent_identifiers": ["HP:6000621", "UMLS:C5937376"], "information_content": 100.0}
{"id": "MONDO:0010543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barth syndrome", "equivalent_identifiers": ["MONDO:0010543", "DOID:0050476", "OMIM:302060", "orphanet:111", "UMLS:C0574083", "MESH:D056889", "MEDDRA:10078537", "NCIT:C84585", "SNOMEDCT:297231002", "medgen:107893", "icd11.foundation:452199926", "ICD10:E78.71"], "information_content": 100.0}
{"id": "HP:6000517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated monolysocardiolipin/cardiolipin ratio", "equivalent_identifiers": ["HP:6000517", "UMLS:C5937280"], "information_content": 100.0}
{"id": "HP:0004913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent lactic acidemia", "equivalent_identifiers": ["HP:0004913", "UMLS:C1844917"], "information_content": 100.0}
{"id": "HP:0008322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mitochondrial morphology", "equivalent_identifiers": ["HP:0008322", "UMLS:C4014650"], "information_content": 72.1}
{"id": "MONDO:0020120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal muscle disorder", "equivalent_identifiers": ["MONDO:0020120", "orphanet:98472", "UMLS:C1533847", "SNOMEDCT:75047002", "medgen:735900", "HP:0003756"], "information_content": 58.7}
{"id": "MONDO:0009955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rapadilino syndrome", "equivalent_identifiers": ["MONDO:0009955", "DOID:0050774", "OMIM:266280", "orphanet:3021", "UMLS:C1849453", "MESH:C535288", "MEDDRA:10088963", "SNOMEDCT:702413000", "medgen:336602", "icd11.foundation:1439614760"], "information_content": 100.0}
{"id": "HP:0005198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff interphalangeal joints", "equivalent_identifiers": ["HP:0005198", "UMLS:C4025237"], "information_content": 100.0}
{"id": "MONDO:0031047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome, type 6", "equivalent_identifiers": ["MONDO:0031047", "OMIM:620022", "UMLS:C5774207", "medgen:1823980"], "information_content": 100.0}
{"id": "MONDO:0012079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asperger syndrome, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0012079", "OMIM:608631", "UMLS:C1837697", "medgen:332517"], "information_content": 100.0}
{"id": "MONDO:0032740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 100", "equivalent_identifiers": ["MONDO:0032740", "DOID:0111638", "OMIM:618422", "UMLS:C5193087", "medgen:1682525"], "information_content": 100.0}
{"id": "MONDO:0020630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 91", "equivalent_identifiers": ["MONDO:0020630", "DOID:0080472", "OMIM:617711", "UMLS:C4540199", "medgen:1626137"], "information_content": 100.0}
{"id": "MONDO:0009303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anti-glomerular basement membrane disease", "equivalent_identifiers": ["MONDO:0009303", "DOID:9808", "OMIM:233450", "orphanet:375", "EFO:0007290", "UMLS:C0403529", "UMLS:C0549143", "MESH:C538458", "MESH:D019867", "MEDDRA:10018620", "MEDDRA:10042811", "MEDDRA:10068513", "MEDDRA:10081981", "MEDDRA:10081982", "NCIT:C34649", "NCIT:C84566", "SNOMEDCT:236432001", "SNOMEDCT:50581000", "SNOMEDCT:788613004", "medgen:140788", "icd11.foundation:591736785", "ICD10:M31.0", "ICD9:446.21"], "information_content": 90.9}
{"id": "HP:0045050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased DLCO", "equivalent_identifiers": ["HP:0045050", "UMLS:C4073174"], "information_content": 100.0}
{"id": "HP:0033030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-glomerular basement membrane-antibody positivity", "equivalent_identifiers": ["HP:0033030", "UMLS:C5421560"], "information_content": 100.0}
{"id": "HP:0033174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bloody bronchoalveolar lavage fluid", "equivalent_identifiers": ["HP:0033174", "UMLS:C5421662"], "information_content": 100.0}
{"id": "HP:0012617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythrocyte cylindruria", "equivalent_identifiers": ["HP:0012617", "UMLS:C0522129", "UMLS:C4022818", "MEDDRA:10007719", "SNOMEDCT:102840003"], "information_content": 100.0}
{"id": "HP:0012615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cylindruria", "equivalent_identifiers": ["HP:0012615", "UMLS:C0151990", "MEDDRA:10007715", "MEDDRA:10011730", "MEDDRA:10046533", "MEDDRA:10067534", "SNOMEDCT:5277004"], "information_content": 83.6}
{"id": "HP:0033316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular crescent formation", "equivalent_identifiers": ["HP:0033316", "UMLS:C5539893"], "information_content": 90.9}
{"id": "OMIM:305690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genitourinary Tract Anomalies", "equivalent_identifiers": ["OMIM:305690", "UMLS:C1844502", "MESH:C564424"]}
{"id": "MONDO:0009002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma, ocular, autosomal recessive", "equivalent_identifiers": ["MONDO:0009002", "OMIM:216820", "UMLS:C4011974", "medgen:860411"], "information_content": 100.0}
{"id": "MONDO:0007558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "self-limited childhood occipital epilepsy", "equivalent_identifiers": ["MONDO:0007558", "OMIM:132090", "orphanet:25968", "UMLS:C1851549", "SNOMEDCT:770623004", "medgen:377052", "icd11.foundation:49954675"], "information_content": 92.8}
{"id": "MONDO:0008854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 1", "equivalent_identifiers": ["MONDO:0008854", "DOID:0110123", "OMIM:209900", "EFO:0009021", "UMLS:C2936862", "MESH:C537909", "medgen:422452"], "information_content": 100.0}
{"id": "MONDO:0005558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian disease", "equivalent_identifiers": ["MONDO:0005558", "DOID:1100", "EFO:0005771", "UMLS:C0029928", "UMLS:C4021818", "MESH:D010049", "MEDDRA:10013249", "MEDDRA:10033139", "MEDDRA:10033140", "NCIT:C26841", "SNOMEDCT:5552004", "medgen:892314", "HP:0000137"], "information_content": 57.8}
{"id": "MONDO:0013181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta hypomaturation type 2A3", "equivalent_identifiers": ["MONDO:0013181", "DOID:0110061", "OMIM:613211", "UMLS:C2750771", "MESH:C567706", "medgen:416381"], "information_content": 100.0}
{"id": "HP:0011085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Soft teeth", "equivalent_identifiers": ["HP:0011085", "UMLS:C4023540", "UMLS:C4280266", "UMLS:C4280336"], "information_content": 100.0}
{"id": "MONDO:0971015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class II deficiency 4", "equivalent_identifiers": ["MONDO:0971015", "OMIM:620817", "UMLS:C1859537", "medgen:347176"], "information_content": 100.0}
{"id": "MONDO:0010674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hunter Syndrome", "equivalent_identifiers": ["MONDO:0010674", "DOID:12799", "OMIM:309900", "orphanet:580", "orphanet:79388", "UMLS:C0026705", "MESH:D016532", "MEDDRA:10056889", "MEDDRA:10056917", "NCIT:C61260", "SNOMEDCT:70737009", "medgen:7734", "icd11.foundation:1056274204", "ICD10:E76.1"], "information_content": 92.8}
{"id": "HP:0034203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased iduronate sulfatase level", "equivalent_identifiers": ["HP:0034203", "UMLS:C5676791"], "information_content": 100.0}
{"id": "MONDO:0014894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 7", "equivalent_identifiers": ["MONDO:0014894", "DOID:0080518", "OMIM:617063", "UMLS:C4310738", "medgen:934705"], "information_content": 100.0}
{"id": "HP:0030717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meconium peritonitis", "equivalent_identifiers": ["HP:0030717", "NCIT:C102977", "UMLS:C0270250", "MEDDRA:10058113", "SNOMEDCT:57341009"], "information_content": 100.0}
{"id": "HP:0012722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heart block", "equivalent_identifiers": ["HP:0012722", "UMLS:C0018794", "MEDDRA:10005271", "MEDDRA:10019252", "MEDDRA:10019267", "SNOMEDCT:233916004"], "information_content": 79.9}
{"id": "HP:0100867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duodenal stenosis", "equivalent_identifiers": ["HP:0100867", "NCIT:C78260", "UMLS:C0238093", "UMLS:C1860791", "MEDDRA:10050094", "SNOMEDCT:73120006"], "information_content": 100.0}
{"id": "MONDO:0013178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy due to LMNA mutation", "equivalent_identifiers": ["MONDO:0013178", "DOID:0110640", "OMIM:613205", "orphanet:157973", "UMLS:C2750785", "MESH:C567708", "NCIT:C148369", "SNOMEDCT:771272007", "medgen:413043"], "information_content": 100.0}
{"id": "MONDO:0014301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dowling-degos disease 3", "equivalent_identifiers": ["MONDO:0014301", "OMIM:615674", "UMLS:C3810286", "medgen:816616"], "information_content": 100.0}
{"id": "HP:0007441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpigmented/hypopigmented macules", "equivalent_identifiers": ["HP:0007441", "UMLS:C4024877"], "information_content": 95.4}
{"id": "MONDO:0014049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urofacial syndrome 2", "equivalent_identifiers": ["MONDO:0014049", "OMIM:615112", "UMLS:C3554520", "medgen:767434"], "information_content": 100.0}
{"id": "HP:0032465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bladder trabeculation", "equivalent_identifiers": ["HP:0032465", "UMLS:C0429803", "MEDDRA:10049027", "SNOMEDCT:79184009"], "information_content": 100.0}
{"id": "MONDO:0013308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CBL-related disorder", "equivalent_identifiers": ["MONDO:0013308", "OMIM:613563", "orphanet:363972", "UMLS:C3150803", "NCIT:C176942", "NCIT:C198681", "medgen:462153"], "information_content": 90.9}
{"id": "MONDO:0011851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with or without aura, susceptibility to, 6", "equivalent_identifiers": ["MONDO:0011851", "OMIM:607516", "UMLS:C1843765", "MESH:C564385", "medgen:334829"], "information_content": 100.0}
{"id": "MONDO:0032751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 2B3", "equivalent_identifiers": ["MONDO:0032751", "DOID:0111602", "OMIM:618436", "UMLS:C5193098", "medgen:1676839"], "information_content": 100.0}
{"id": "MONDO:0008483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stuttering, familial persistent, 1", "equivalent_identifiers": ["MONDO:0008483", "OMIM:184450", "UMLS:C3489627", "medgen:483580"], "information_content": 100.0}
{"id": "HP:0410291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Negativism", "equivalent_identifiers": ["HP:0410291", "UMLS:C0233610", "SNOMEDCT:6049005"], "information_content": 100.0}
{"id": "MONDO:0013640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial retinal arterial macroaneurysm", "equivalent_identifiers": ["MONDO:0013640", "OMIM:614224", "orphanet:284247", "UMLS:C3280205", "SNOMEDCT:764452004", "medgen:481835", "icd11.foundation:800928909"], "information_content": 100.0}
{"id": "HP:0025355", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal arterial macroaneurysms", "equivalent_identifiers": ["HP:0025355", "UMLS:C0423402", "MEDDRA:10064975", "SNOMEDCT:247124009", "MESH:D000080346"], "information_content": 100.0}
{"id": "MONDO:0007109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia type 3", "equivalent_identifiers": ["MONDO:0007109", "DOID:0111399", "OMIM:105600", "orphanet:98870", "UMLS:C0271934", "UMLS:C1862933", "UMLS:C5676874", "MESH:C566285", "SNOMEDCT:26409005", "medgen:1801596"], "information_content": 100.0}
{"id": "HP:0012543", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemosiderinuria", "equivalent_identifiers": ["HP:0012543", "UMLS:C2721579", "MEDDRA:10069395", "MEDDRA:10069397"], "information_content": 100.0}
{"id": "MONDO:0012400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical dysplasia-focal epilepsy syndrome", "equivalent_identifiers": ["MONDO:0012400", "DOID:0090130", "OMIM:610042", "orphanet:163681", "UMLS:C2750246", "UMLS:C4552043", "MESH:C567657", "NCIT:C133743", "medgen:413258", "ICD10:Q04.8"], "information_content": 100.0}
{"id": "HP:0032752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal impaired awareness emotional seizure with fear/anxiety/panic", "equivalent_identifiers": ["HP:0032752", "UMLS:C5397762"], "information_content": 100.0}
{"id": "HP:0032661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized convulsive status epilepticus", "equivalent_identifiers": ["HP:0032661", "UMLS:C5779775", "SNOMEDCT:1299166008"], "information_content": 100.0}
{"id": "MONDO:0007859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma i, striate, focal, or diffuse", "equivalent_identifiers": ["MONDO:0007859", "DOID:0081108", "OMIM:148700", "UMLS:C2931122", "MESH:C536162", "medgen:419717"], "information_content": 100.0}
{"id": "HP:0007501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Streaks of hyperkeratosis along each finger onto the palm", "equivalent_identifiers": ["HP:0007501", "UMLS:C4024861"], "information_content": 100.0}
{"id": "MONDO:0010850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tessier number 4 facial cleft", "equivalent_identifiers": ["MONDO:0010850", "DOID:0111706", "OMIM:600251", "orphanet:141258", "UMLS:C4703420", "medgen:1642051", "icd11.foundation:1796306367", "HP:0031576"], "information_content": 100.0}
{"id": "MONDO:0014637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DOCK2 deficiency", "equivalent_identifiers": ["MONDO:0014637", "DOID:0111951", "OMIM:616433", "orphanet:447737", "UMLS:C4225328", "NCIT:C176799", "SNOMEDCT:1197479002", "medgen:901370"], "information_content": 100.0}
{"id": "HP:0100590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectal fistula", "equivalent_identifiers": ["HP:0100590", "NCIT:C79713", "UMLS:C0034884", "MEDDRA:10038062", "SNOMEDCT:80736008"], "information_content": 86.3}
{"id": "HP:0033164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal active colitis", "equivalent_identifiers": ["HP:0033164", "NCIT:C27740", "UMLS:C1333625", "SNOMEDCT:783185002"], "information_content": 100.0}
{"id": "MONDO:0020517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic granuloma", "equivalent_identifiers": ["MONDO:0020517", "UMLS:C0014461", "UMLS:C1306599", "MESH:D004803", "MEDDRA:10014956", "NCIT:C150701", "NCIT:C3016", "SNOMEDCT:1187283003", "SNOMEDCT:128810002", "SNOMEDCT:129000002", "medgen:4979", "icd11.foundation:1377407737", "HP:0032253"], "information_content": 92.8}
{"id": "MONDO:0008493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "overhydrated hereditary stomatocytosis", "equivalent_identifiers": ["MONDO:0008493", "DOID:0111562", "OMIM:185000", "orphanet:3203", "UMLS:C1861455", "MESH:C566111", "SNOMEDCT:722125003", "medgen:348876", "icd11.foundation:595647587"], "information_content": 100.0}
{"id": "HP:0003575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased intracellular sodium", "equivalent_identifiers": ["HP:0003575", "UMLS:C4025593"], "information_content": 100.0}
{"id": "MONDO:0014602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hogue-Janssens syndrome 1", "equivalent_identifiers": ["MONDO:0014602", "DOID:0070065", "OMIM:616355", "orphanet:457279", "UMLS:C5779996", "medgen:1830493"], "information_content": 100.0}
{"id": "MONDO:0007322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia punctata, tibial-metacarpal type", "equivalent_identifiers": ["MONDO:0007322", "OMIM:118651", "orphanet:79346", "UMLS:C0432224", "MESH:C562961", "SNOMEDCT:254083002", "medgen:98147", "icd11.foundation:1513713461"], "information_content": 100.0}
{"id": "HP:0010038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 2nd metacarpal", "equivalent_identifiers": ["HP:0010038", "UMLS:C1969397", "UMLS:C4020774"], "information_content": 100.0}
{"id": "MONDO:0032712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 38", "equivalent_identifiers": ["MONDO:0032712", "DOID:0111466", "OMIM:618378", "UMLS:C5193064", "medgen:1682102"], "information_content": 100.0}
{"id": "MONDO:0010091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cold-induced sweating syndrome 1", "equivalent_identifiers": ["MONDO:0010091", "DOID:0080329", "OMIM:272430", "orphanet:1545", "UMLS:C1848947", "MESH:C536214", "NCIT:C173147", "SNOMEDCT:725097006", "medgen:338577"], "information_content": 100.0}
{"id": "MONDO:0013193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyrotoxic periodic paralysis, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0013193", "OMIM:613239", "UMLS:C2750473", "medgen:413851"], "information_content": 100.0}
{"id": "MONDO:0014595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 30", "equivalent_identifiers": ["MONDO:0014595", "DOID:0080465", "OMIM:616341", "UMLS:C4225360", "medgen:898954"], "information_content": 100.0}
{"id": "MONDO:0033658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures and brain atrophy", "equivalent_identifiers": ["MONDO:0033658", "OMIM:619072", "UMLS:C5436732", "medgen:1748227"], "information_content": 100.0}
{"id": "MONDO:0859351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity and hypopigmentation", "equivalent_identifiers": ["MONDO:0859351", "OMIM:620195", "UMLS:C5774289", "medgen:1824062"], "information_content": 100.0}
{"id": "MONDO:0007296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 31", "equivalent_identifiers": ["MONDO:0007296", "DOID:0050980", "OMIM:117210", "orphanet:217012", "UMLS:C1861736", "MESH:C566146", "NCIT:C176901", "SNOMEDCT:715826005", "medgen:348439", "icd11.foundation:250956064"], "information_content": 100.0}
{"id": "MONDO:0859223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type Iw, autosomal dominant", "equivalent_identifiers": ["MONDO:0859223", "OMIM:619714", "UMLS:C5562068", "medgen:1794278"], "information_content": 100.0}
{"id": "MONDO:0010486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olmsted syndrome, X-linked", "equivalent_identifiers": ["MONDO:0010486", "DOID:0112012", "OMIM:300918", "UMLS:C3806745", "medgen:813075"], "information_content": 100.0}
{"id": "HP:0025610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior blepharitis", "equivalent_identifiers": ["HP:0025610", "UMLS:C1275684", "MEDDRA:10065062", "MEDDRA:10085889", "SNOMEDCT:397549002", "MESH:D000080343"], "information_content": 95.4}
{"id": "MONDO:0009359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome", "equivalent_identifiers": ["MONDO:0009359", "DOID:0080327", "OMIM:236500", "orphanet:500135", "UMLS:C1856053", "MESH:C565507", "SNOMEDCT:1169358003", "medgen:343465"], "information_content": 100.0}
{"id": "HP:4000150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multinucleated neuron", "equivalent_identifiers": ["HP:4000150", "UMLS:C4313826"], "information_content": 100.0}
{"id": "MONDO:0013032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 8", "equivalent_identifiers": ["MONDO:0013032", "OMIM:612899", "UMLS:C2752062", "medgen:414549"], "information_content": 100.0}
{"id": "MONDO:0013646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 8q21.11 deletion syndrome", "equivalent_identifiers": ["MONDO:0013646", "DOID:0060425", "OMIM:614230", "orphanet:284160", "UMLS:C3280231", "UMLS:C4305343", "SNOMEDCT:718615003", "medgen:481861"], "information_content": 100.0}
{"id": "MONDO:0009404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertelorism, microtia, facial clefting syndrome", "equivalent_identifiers": ["MONDO:0009404", "DOID:14670", "OMIM:239800", "orphanet:2213", "UMLS:C0220742", "MESH:C537632", "SNOMEDCT:721836009", "medgen:113104"], "information_content": 100.0}
{"id": "MONDO:0030964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 67", "equivalent_identifiers": ["MONDO:0030964", "DOID:0061040", "OMIM:619927", "UMLS:C5677006", "medgen:1805690"], "information_content": 100.0}
{"id": "MONDO:0010137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 5", "equivalent_identifiers": ["MONDO:0010137", "DOID:0112184", "OMIM:274900", "UMLS:C0342196", "MESH:C562771", "SNOMEDCT:63127008", "medgen:87430"], "information_content": 100.0}
{"id": "MONDO:0020770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3", "equivalent_identifiers": ["MONDO:0020770", "DOID:0070465", "OMIM:618387", "EFO:0010249", "UMLS:C5193070", "medgen:1673607"], "information_content": 100.0}
{"id": "MONDO:0011987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 13", "equivalent_identifiers": ["MONDO:0011987", "DOID:0111016", "OMIM:608194", "UMLS:C2750720", "MESH:C567698", "medgen:413025"], "information_content": 100.0}
{"id": "MONDO:0030849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with speech delay and axonal peripheral neuropathy", "equivalent_identifiers": ["MONDO:0030849", "OMIM:619099", "UMLS:C5436813", "medgen:1754849"], "information_content": 100.0}
{"id": "MONDO:0100104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal akinesia deformation sequence 4", "equivalent_identifiers": ["MONDO:0100104", "DOID:0111379", "OMIM:618393", "UMLS:C4760578", "medgen:1675450"], "information_content": 100.0}
{"id": "MONDO:0011984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synpolydactyly type 2", "equivalent_identifiers": ["MONDO:0011984", "OMIM:608180", "orphanet:295197", "UMLS:C1842422", "MESH:C564278", "medgen:331290", "icd11.foundation:1370014661"], "information_content": 100.0}
{"id": "MONDO:0008357", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome", "equivalent_identifiers": ["MONDO:0008357", "OMIM:179250", "orphanet:2252", "UMLS:C1867397", "MESH:C536262", "SNOMEDCT:716092007", "medgen:357271"], "information_content": 100.0}
{"id": "MONDO:0009965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perlman syndrome", "equivalent_identifiers": ["MONDO:0009965", "DOID:0060476", "DOID:5572", "OMIM:130650", "OMIM:267000", "orphanet:2849", "UMLS:C0004903", "UMLS:C0796113", "UMLS:C1851719", "MESH:C536399", "MESH:D001506", "MEDDRA:10050344", "MEDDRA:10088870", "NCIT:C103144", "NCIT:C34415", "SNOMEDCT:722231005", "SNOMEDCT:81780002", "medgen:162909", "icd11.foundation:795682441", "ICD10:Q87.3"], "information_content": 78.5}
{"id": "HP:0032165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Placental mesenchymal dysplasia", "equivalent_identifiers": ["HP:0032165", "NCIT:C118161", "UMLS:C1096298", "MEDDRA:10054810"], "information_content": 100.0}
{"id": "HP:0006277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic hyperplasia", "equivalent_identifiers": ["HP:0006277", "UMLS:C1851733"], "information_content": 92.8}
{"id": "HP:0003247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overgrowth of external genitalia", "equivalent_identifiers": ["HP:0003247", "UMLS:C1851722"], "information_content": 100.0}
{"id": "HP:0008186", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenocortical cytomegaly", "equivalent_identifiers": ["HP:0008186", "UMLS:C1851720"], "information_content": 100.0}
{"id": "MONDO:0015270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "butyrylcholinesterase deficiency", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0015270", "OMIM:617936", "orphanet:132", "UMLS:C0268379", "UMLS:C1283400", "UMLS:C1622434", "UMLS:C1867467", "UMLS:C1867468", "UMLS:C1867469", "UMLS:C1867470", "MESH:C537417", "MESH:C566750", "MESH:C566751", "MEDDRA:10062674", "SNOMEDCT:191397007", "SNOMEDCT:360619001", "medgen:220923", "icd11.foundation:581237559"], "information_content": 100.0}
{"id": "MONDO:0024533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension, primary, 1", "equivalent_identifiers": ["MONDO:0024533", "OMIM:178600", "UMLS:C1969342", "UMLS:C1969343", "UMLS:C3714844", "UMLS:C4552070", "NCIT:C174219", "medgen:1643124"], "information_content": 100.0}
{"id": "HP:0005312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary aterial intimal fibrosis", "equivalent_identifiers": ["HP:0005312", "UMLS:C4025217"], "information_content": 100.0}
{"id": "HP:0005168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated right atrial pressure", "equivalent_identifiers": ["HP:0005168", "UMLS:C1867421"], "information_content": 100.0}
{"id": "HP:0011353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arterial intimal fibrosis", "equivalent_identifiers": ["HP:0011353", "UMLS:C4020753", "UMLS:C4023403"], "information_content": 100.0}
{"id": "HP:0005308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary artery vasoconstriction", "equivalent_identifiers": ["HP:0005308", "UMLS:C1867424"], "information_content": 100.0}
{"id": "MONDO:0010414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, reducing body, X-linked, early-onset, severe", "equivalent_identifiers": ["MONDO:0010414", "OMIM:300717", "UMLS:C2678027", "UMLS:C4225423", "MESH:C567469", "medgen:906731"], "information_content": 100.0}
{"id": "MONDO:0021083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital fibrosis of extraocular muscles type 1", "equivalent_identifiers": ["MONDO:0021083", "DOID:0081015", "OMIM:135700", "UMLS:C1851102", "medgen:376943"], "information_content": 100.0}
{"id": "HP:0031721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sensory exotropia", "equivalent_identifiers": ["HP:0031721", "UMLS:C0339636", "UMLS:C1276000", "UMLS:C1609988", "SNOMEDCT:397822009", "SNOMEDCT:400937005"], "information_content": 100.0}
{"id": "HP:0031723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Secondary esotropia", "equivalent_identifiers": ["HP:0031723", "UMLS:C0339624", "SNOMEDCT:399207003"], "information_content": 100.0}
{"id": "MONDO:0011236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism due to glucokinase deficiency", "equivalent_identifiers": ["MONDO:0011236", "DOID:0070216", "OMIM:602485", "orphanet:79299", "UMLS:C1865290", "UMLS:C4274019", "MESH:C538374", "SNOMEDCT:717182006", "medgen:355435"], "information_content": 100.0}
{"id": "MONDO:0010241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 2A", "equivalent_identifiers": ["MONDO:0010241", "DOID:0110871", "OMIM:300071", "UMLS:C1848172", "medgen:376299"], "information_content": 100.0}
{"id": "HP:0030479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal amplitude of light-adapted flicker electroretinogram", "equivalent_identifiers": ["HP:0030479", "UMLS:C4072969"], "information_content": 100.0}
{"id": "MONDO:0014907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 15 with polydactyly", "equivalent_identifiers": ["MONDO:0014907", "OMIM:617088", "UMLS:C4310724", "medgen:934691"], "information_content": 100.0}
{"id": "MONDO:0007541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometriosis, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0007541", "OMIM:131200", "UMLS:C1851649", "medgen:338749"], "information_content": 100.0}
{"id": "HP:0100607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysmenorrhea", "equivalent_identifiers": ["HP:0100607", "NCIT:C34559", "UMLS:C0013390", "MEDDRA:10011299", "MEDDRA:10013934", "MEDDRA:10013935", "MEDDRA:10027321", "MEDDRA:10027323", "MEDDRA:10027324", "MEDDRA:10033463", "MEDDRA:10033514", "MEDDRA:10034532", "SNOMEDCT:266599000", "SNOMEDCT:289900009", "SNOMEDCT:431416001", "MESH:D004412"], "information_content": 100.0}
{"id": "MONDO:0010600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, X-linked", "equivalent_identifiers": ["MONDO:0010600", "DOID:0070195", "OMIM:306400", "UMLS:C1841825", "UMLS:C1844376", "MESH:C564210", "NCIT:C154315", "medgen:336165"], "information_content": 100.0}
{"id": "HP:0033662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Air bronchogram", "equivalent_identifiers": ["HP:0033662", "UMLS:C3669021", "SNOMEDCT:1217293003"], "information_content": 100.0}
{"id": "HP:0003514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deficiency or absence of cytochrome b(-245)", "equivalent_identifiers": ["HP:0003514", "UMLS:C1844390"], "information_content": 100.0}
{"id": "MONDO:0008451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal dominant 1", "equivalent_identifiers": ["MONDO:0008451", "DOID:0111200", "OMIM:182960", "orphanet:139518", "UMLS:C1866784", "MESH:C566675", "NCIT:C132826", "SNOMEDCT:770630005", "medgen:356618"], "information_content": 100.0}
{"id": "MONDO:0013817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preeclampsia/eclampsia 5", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0013817", "OMIM:614595", "UMLS:C3281288", "medgen:482918"], "information_content": 100.0}
{"id": "MONDO:0008790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism", "equivalent_identifiers": ["MONDO:0008790", "OMIM:206400", "UMLS:C1859785", "MESH:C565952", "medgen:395345"], "information_content": 100.0}
{"id": "MONDO:0011013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hypocalcemia 1", "equivalent_identifiers": ["MONDO:0011013", "DOID:0090107", "OMIM:601198", "UMLS:C0342345", "UMLS:C4552089", "MESH:C562783", "NCIT:C129730", "medgen:87438"], "information_content": 100.0}
{"id": "MONDO:0010404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked non progressive cerebellar ataxia", "equivalent_identifiers": ["MONDO:0010404", "DOID:0111833", "OMIM:300703", "orphanet:314978", "UMLS:C2678048", "UMLS:C4707849", "MESH:C567478", "SNOMEDCT:766818009", "medgen:394718"], "information_content": 100.0}
{"id": "MONDO:0859332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical dysplasia, complex, with other brain malformations 11", "equivalent_identifiers": ["MONDO:0859332", "OMIM:620156", "UMLS:C5774270", "medgen:1824043"], "information_content": 100.0}
{"id": "MONDO:0014999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, 9", "equivalent_identifiers": ["MONDO:0014999", "OMIM:617275", "UMLS:C4310638", "medgen:934605"], "information_content": 100.0}
{"id": "MONDO:0030989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 53", "equivalent_identifiers": ["MONDO:0030989", "DOID:0112279", "OMIM:619258", "UMLS:C5543253", "medgen:1787013"], "information_content": 100.0}
{"id": "MONDO:0013082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease-ganglioneuroblastoma syndrome", "equivalent_identifiers": ["MONDO:0013082", "OMIM:613013", "orphanet:2151", "UMLS:C2751682", "UMLS:C2751683", "UMLS:C5191058", "MESH:C538119", "SNOMEDCT:783737007", "medgen:1683967"], "information_content": 100.0}
{"id": "OMIM:268130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Revesz Syndrome", "equivalent_identifiers": ["OMIM:268130", "UMLS:C1327916", "MESH:C538371", "NCIT:C152064", "SNOMEDCT:723512008"], "information_content": 100.0}
{"id": "HP:0007617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fine, reticulate skin pigmentation", "equivalent_identifiers": ["HP:0007617", "UMLS:C4024828"], "information_content": 100.0}
{"id": "HP:0008402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ridged fingernail", "equivalent_identifiers": ["HP:0008402", "UMLS:C1849392"], "information_content": 100.0}
{"id": "MONDO:0007992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcornea-glaucoma-absent frontal sinuses syndrome", "equivalent_identifiers": ["MONDO:0007992", "OMIM:156700", "orphanet:2536", "UMLS:C1834935", "MESH:C537552", "medgen:331860"], "information_content": 100.0}
{"id": "MONDO:0011060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset non-syndromic cataract", "equivalent_identifiers": ["MONDO:0011060", "OMIM:601371", "orphanet:91492", "UMLS:C1832423", "medgen:371326", "icd11.foundation:1080602978", "HP:0011142"], "information_content": 74.5}
{"id": "MONDO:0032837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abdominal obesity-metabolic syndrome 4", "equivalent_identifiers": ["MONDO:0032837", "DOID:0080945", "OMIM:618620", "UMLS:C5231430", "medgen:1704861"], "information_content": 100.0}
{"id": "HP:0004943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accelerated atherosclerosis", "equivalent_identifiers": ["HP:0004943", "UMLS:C1849618", "UMLS:C4280504"], "information_content": 100.0}
{"id": "MONDO:0020495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PEHO-like syndrome", "equivalent_identifiers": ["MONDO:0020495", "OMIM:617507", "orphanet:99807", "UMLS:C1850056", "SNOMEDCT:770678005", "medgen:337956"], "information_content": 100.0}
{"id": "MONDO:0009935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0009935", "OMIM:265400", "UMLS:C1849552", "UMLS:C5676877", "MESH:C564862", "medgen:1802382"], "information_content": 100.0}
{"id": "MONDO:0008936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia and neurosensory deafness", "equivalent_identifiers": ["MONDO:0008936", "OMIM:212850", "UMLS:C1859304", "MESH:C565869", "medgen:395224"], "information_content": 100.0}
{"id": "MONDO:0012866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 35", "equivalent_identifiers": ["MONDO:0012866", "DOID:0110786", "OMIM:612319", "orphanet:171629", "UMLS:C3496228", "MESH:C567311", "SNOMEDCT:764688002", "medgen:501249"], "information_content": 100.0}
{"id": "MONDO:0014201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 18", "equivalent_identifiers": ["MONDO:0014201", "DOID:0080413", "OMIM:615476", "UMLS:C3809624", "medgen:815954"], "information_content": 100.0}
{"id": "MONDO:0100156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Imerslund-Grasbeck syndrome type 1", "equivalent_identifiers": ["MONDO:0100156", "OMIM:261100", "UMLS:C4016819", "NCIT:C131677", "medgen:865256"], "information_content": 100.0}
{"id": "MONDO:0029147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 33", "equivalent_identifiers": ["MONDO:0029147", "DOID:0111915", "OMIM:618152", "UMLS:C4748395", "medgen:1648473"], "information_content": 100.0}
{"id": "MONDO:0031011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies and variable seizures", "equivalent_identifiers": ["MONDO:0031011", "OMIM:619264", "UMLS:C5543268", "medgen:1784197"], "information_content": 100.0}
{"id": "MONDO:0012709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with coloboma 5", "equivalent_identifiers": ["MONDO:0012709", "OMIM:611638", "UMLS:C1968843", "MESH:C566899", "medgen:369356"], "information_content": 100.0}
{"id": "MONDO:0009906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prenatal bowing", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009906", "OMIM:264050", "UMLS:C1849701", "MESH:C564873", "medgen:337891"], "information_content": 100.0}
{"id": "MONDO:0014713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis 9, multiple types", "equivalent_identifiers": ["MONDO:0014713", "OMIM:616631", "UMLS:C4225262", "medgen:894586"], "information_content": 100.0}
{"id": "MONDO:0957278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte/zygote/embryo maturation arrest 20", "equivalent_identifiers": ["MONDO:0957278", "OMIM:620383", "UMLS:C5830539", "medgen:1841175"], "information_content": 100.0}
{"id": "MONDO:0014133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 16", "equivalent_identifiers": ["MONDO:0014133", "DOID:0080449", "OMIM:615338", "UMLS:C3809173", "medgen:815503"], "information_content": 100.0}
{"id": "MONDO:0013517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-thalassemia HBB/LCRB", "equivalent_identifiers": ["MONDO:0013517", "OMIM:613985"], "information_content": 90.9}
{"id": "MONDO:0014711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Charcot-Marie-Tooth disease type 2W", "equivalent_identifiers": ["MONDO:0014711", "DOID:0110162", "OMIM:616625", "orphanet:488333", "UMLS:C5567486", "SNOMEDCT:1172634009", "medgen:1798909"], "information_content": 100.0}
{"id": "MONDO:0032832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies", "equivalent_identifiers": ["MONDO:0032832", "OMIM:618608", "EFO:0010630", "UMLS:C5231426", "UMLS:C5231501", "medgen:1684881"], "information_content": 100.0}
{"id": "MONDO:0012514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 5", "equivalent_identifiers": ["MONDO:0012514", "DOID:0060793", "OMIM:610532", "orphanet:85163", "UMLS:C1864663", "MESH:C567166", "SNOMEDCT:702379005", "medgen:501134", "ICD10:G37.8"], "information_content": 100.0}
{"id": "MONDO:0024554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D-2-hydroxyglutaric aciduria 1", "equivalent_identifiers": ["MONDO:0024554", "DOID:0111351", "OMIM:600721", "UMLS:C3152055", "medgen:463405"], "information_content": 100.0}
{"id": "MONDO:0008727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0008727", "OMIM:201810", "orphanet:90791", "UMLS:C0342471", "MESH:C538236", "NCIT:C131088", "SNOMEDCT:54470008", "medgen:452446", "icd11.foundation:929626064"], "information_content": 100.0}
{"id": "HP:0008707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent scrotum", "equivalent_identifiers": ["HP:0008707", "UMLS:C0426320", "SNOMEDCT:249233008"], "information_content": 100.0}
{"id": "HP:0033809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating 17 hydroxypregnenolone concentration", "equivalent_identifiers": ["HP:0033809", "UMLS:C5539825"], "information_content": 100.0}
{"id": "HP:0031078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired cortisol response to corticotropin releasing hormone stimulation test", "equivalent_identifiers": ["HP:0031078", "UMLS:C4476957"], "information_content": 100.0}
{"id": "HP:0012853", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scrotal hypospadias", "equivalent_identifiers": ["HP:0012853", "UMLS:C2197691", "SNOMEDCT:702462000"], "information_content": 100.0}
{"id": "DOID:10016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia type 2B", "equivalent_identifiers": ["DOID:10016", "OMIM:162300", "UMLS:C0025269", "MESH:D018814", "MEDDRA:10052342", "MEDDRA:10056420", "MEDDRA:10073151", "MEDDRA:10073155", "NCIT:C3227", "SNOMEDCT:61530001", "ICD10:E31.23", "ICD9:258.03"], "information_content": 90.9}
{"id": "MONDO:0006869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular goiter", "equivalent_identifiers": ["MONDO:0006869", "DOID:13197", "EFO:1001062", "UMLS:C0018023", "MESH:D006044", "MEDDRA:10018495", "MEDDRA:10058256", "NCIT:C131437", "SNOMEDCT:419153005", "medgen:42271", "HP:0005994"], "information_content": 88.2}
{"id": "MONDO:0032588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular nodular heterotopia 8", "equivalent_identifiers": ["MONDO:0032588", "OMIM:618185", "UMLS:C4748602", "medgen:1648287"], "information_content": 100.0}
{"id": "MONDO:0014784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome", "equivalent_identifiers": ["MONDO:0014784", "OMIM:616816", "orphanet:467176", "UMLS:C4225196", "medgen:902080"], "information_content": 100.0}
{"id": "MONDO:0008156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant osteopetrosis 2", "equivalent_identifiers": ["MONDO:0008156", "DOID:0110938", "OMIM:166600", "orphanet:53", "UMLS:C3179239", "SNOMEDCT:725050005", "medgen:465707"], "information_content": 100.0}
{"id": "HP:0005106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the vertebral endplates", "equivalent_identifiers": ["HP:0005106", "UMLS:C4025251"], "information_content": 88.2}
{"id": "HP:0003084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent long bone fractures", "equivalent_identifiers": ["HP:0003084", "UMLS:C0240231"], "information_content": 72.5}
{"id": "MONDO:0009035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniometaphyseal dysplasia, autosomal recessive", "equivalent_identifiers": ["MONDO:0009035", "DOID:0080802", "OMIM:218400", "UMLS:C2931244", "MESH:C536570", "medgen:419753"], "information_content": 100.0}
{"id": "HP:0005465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial hyperostosis", "equivalent_identifiers": ["HP:0005465", "UMLS:C1857501", "UMLS:C4280485", "UMLS:C4280486", "UMLS:C4280487"], "information_content": 92.8}
{"id": "HP:0006384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Club-shaped distal femur", "equivalent_identifiers": ["HP:0006384", "UMLS:C1857505"], "information_content": 100.0}
{"id": "HP:0009772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy sclerosis of finger phalanx", "equivalent_identifiers": ["HP:0009772", "UMLS:C1857508"], "information_content": 79.3}
{"id": "HP:0004407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bony paranasal bossing", "equivalent_identifiers": ["HP:0004407", "UMLS:C1857499"], "information_content": 100.0}
{"id": "MONDO:0010053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 3", "equivalent_identifiers": ["MONDO:0010053", "DOID:0110918", "OMIM:270970", "UMLS:C2678338", "MESH:C567489", "medgen:394798"], "information_content": 100.0}
{"id": "MONDO:0957264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebroretinal microangiopathy with calcifications and cysts 3", "equivalent_identifiers": ["MONDO:0957264", "OMIM:620368", "UMLS:C5830497", "medgen:1841133"], "information_content": 100.0}
{"id": "MONDO:0009713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 18, autosomal recessive", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009713", "OMIM:255500", "UMLS:C2749509", "MESH:C567606", "medgen:411856"], "information_content": 100.0}
{"id": "MONDO:0008468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloarthropathy, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0008468", "DOID:0080604", "OMIM:183840", "UMLS:C1866738", "medgen:355791"], "information_content": 100.0}
{"id": "MONDO:0009612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency", "equivalent_identifiers": ["MONDO:0009612", "DOID:0060740", "OMIM:251000", "orphanet:27", "UMLS:C1855114", "UMLS:C1855115", "UMLS:C1855116", "MESH:C565390", "NCIT:C148366", "medgen:344424", "ICD10:E71.1"], "information_content": 92.8}
{"id": "MONDO:0009686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "musk, inability to smell", "equivalent_identifiers": ["MONDO:0009686", "OMIM:254150", "UMLS:C1850807", "MESH:C564980", "medgen:342594"], "information_content": 100.0}
{"id": "MONDO:0010290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "goiter, multinodular 2", "equivalent_identifiers": ["MONDO:0010290", "OMIM:300273", "UMLS:C1846033", "MESH:C564546", "medgen:337370"], "information_content": 100.0}
{"id": "MONDO:0010756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Von Willebrand disease, X-linked form", "equivalent_identifiers": ["MONDO:0010756", "OMIM:314560", "UMLS:C1839113", "MESH:C564041", "medgen:333255"], "information_content": 100.0}
{"id": "MONDO:0012464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 10", "equivalent_identifiers": ["MONDO:0012464", "DOID:0111017", "OMIM:610283", "UMLS:C1846529", "MESH:C564597", "medgen:337598"], "information_content": 100.0}
{"id": "MONDO:0007496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 12", "equivalent_identifiers": ["MONDO:0007496", "DOID:0090056", "OMIM:128235", "orphanet:71517", "UMLS:C1868681", "MESH:C538001", "MEDDRA:10083658", "NCIT:C157577", "SNOMEDCT:702323008", "medgen:358384"], "information_content": 100.0}
{"id": "MONDO:0008201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perry syndrome", "equivalent_identifiers": ["MONDO:0008201", "DOID:0060486", "OMIM:168605", "orphanet:178509", "UMLS:C1868594", "MESH:C566822", "MEDDRA:10079207", "SNOMEDCT:699184009", "medgen:357007", "icd11.foundation:1441227658"], "information_content": 100.0}
{"id": "HP:0031589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Suicidal ideation", "equivalent_identifiers": ["HP:0031589", "NCIT:C80102", "UMLS:C5942421", "MEDDRA:10042458", "SNOMEDCT:6471006", "MESH:D059020"], "information_content": 100.0}
{"id": "MONDO:0010812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocytosis, familial", "equivalent_identifiers": ["MONDO:0010812", "OMIM:600084", "UMLS:C1838656", "MESH:C564004", "medgen:333150"], "information_content": 100.0}
{"id": "MONDO:0957250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 83", "equivalent_identifiers": ["MONDO:0957250", "DOID:0070582", "OMIM:620354", "UMLS:C5830470", "medgen:1841106"], "information_content": 100.0}
{"id": "HP:0034947", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Altered location of the longitudinal column in the fibrous sheath", "equivalent_identifiers": ["HP:0034947", "UMLS:C5826792"], "information_content": 100.0}
{"id": "MONDO:0012466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 13, autosomal dominant, susceptibility to", "equivalent_identifiers": ["MONDO:0012466", "OMIM:610297", "UMLS:C1853202", "UMLS:C3496588", "MESH:C565204", "medgen:343992"], "information_content": 100.0}
{"id": "MONDO:0008609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tristichiasis", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008609", "OMIM:190800", "UMLS:C1860785", "medgen:349889", "HP:0008009"], "information_content": 100.0}
{"id": "MONDO:0007734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 4", "equivalent_identifiers": ["MONDO:0007734", "DOID:0110880", "OMIM:142946", "UMLS:C1840528", "MESH:C564180", "NCIT:C75475", "medgen:374488"], "information_content": 90.9}
{"id": "HP:0020128", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the olfactory tract", "equivalent_identifiers": ["HP:0020128", "UMLS:C5209227"], "information_content": 100.0}
{"id": "MONDO:0008343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary atresia with ventricular septal defect", "equivalent_identifiers": ["MONDO:0008343", "OMIM:178370", "orphanet:1207", "UMLS:C0344976", "MESH:C562833", "NCIT:C99033", "SNOMEDCT:253591008", "medgen:87492"], "information_content": 100.0}
{"id": "MONDO:0008176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paget disease of bone 3", "equivalent_identifiers": ["MONDO:0008176", "DOID:0081366", "OMIM:167250", "UMLS:C4085252", "medgen:895927"], "information_content": 100.0}
{"id": "MONDO:0011936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia with brain and digit anomalies", "equivalent_identifiers": ["MONDO:0011936", "DOID:0111805", "OMIM:607932", "orphanet:139471", "UMLS:C1864689", "MESH:C566440", "SNOMEDCT:721878003", "medgen:355268"], "information_content": 100.0}
{"id": "HP:0010999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the optic tract", "equivalent_identifiers": ["HP:0010999", "UMLS:C4023603"], "information_content": 95.4}
{"id": "HP:0000864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the hypothalamus-pituitary axis", "equivalent_identifiers": ["HP:0000864", "UMLS:C4025819"], "information_content": 65.7}
{"id": "MONDO:0021019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked recessive ocular albinism", "equivalent_identifiers": ["MONDO:0021019", "OMIM:300500", "orphanet:54", "UMLS:C0342684", "MESH:C537863", "NCIT:C118785", "SNOMEDCT:78642008", "medgen:90991", "icd11.foundation:846740259"], "information_content": 100.0}
{"id": "MONDO:0010287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 16", "equivalent_identifiers": ["MONDO:0010287", "DOID:0110769", "OMIM:300266", "orphanet:100997", "UMLS:C1846046", "MESH:C536643", "SNOMEDCT:783697000", "medgen:375796"], "information_content": 100.0}
{"id": "MONDO:0011667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 4", "equivalent_identifiers": ["MONDO:0011667", "DOID:0111103", "OMIM:606392", "UMLS:C1833382", "MESH:C563451", "NCIT:C129746", "SNOMEDCT:609571007", "medgen:318863"], "information_content": 100.0}
{"id": "OMIM:133600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exostoses Of Heel", "equivalent_identifiers": ["OMIM:133600", "UMLS:C0877431", "MESH:C563167", "MEDDRA:10049108"]}
{"id": "MONDO:0010794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NARP syndrome", "equivalent_identifiers": ["MONDO:0010794", "DOID:0111273", "OMIM:551500", "orphanet:644", "UMLS:C1328349", "MESH:C537396", "MEDDRA:10062940", "SNOMEDCT:237984008", "medgen:231285", "icd11.foundation:2089784682"], "information_content": 100.0}
{"id": "HP:0007117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corticospinal tract atrophy", "equivalent_identifiers": ["HP:0007117", "UMLS:C1838868"], "information_content": 100.0}
{"id": "MONDO:0008700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acheiropody", "equivalent_identifiers": ["MONDO:0008700", "DOID:0050603", "OMIM:200500", "orphanet:931", "UMLS:C0265559", "MESH:C536014", "MEDDRA:10081375", "SNOMEDCT:177504007", "medgen:120547"], "information_content": 100.0}
{"id": "HP:0009828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peromelia", "equivalent_identifiers": ["HP:0009828", "UMLS:C4024192"], "information_content": 92.8}
{"id": "HP:0010509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the tarsal bones", "equivalent_identifiers": ["HP:0010509", "UMLS:C4021257"], "information_content": 100.0}
{"id": "MONDO:0017445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acheiria", "equivalent_identifiers": ["MONDO:0017445", "orphanet:294983", "UMLS:C0265594", "MEDDRA:10084078", "SNOMEDCT:1003510009", "SNOMEDCT:371199008", "medgen:488815", "icd11.foundation:1428065029", "HP:0004050"], "information_content": 92.8}
{"id": "HP:0010744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent metatarsal bone", "equivalent_identifiers": ["HP:0010744", "UMLS:C4021232"], "information_content": 92.8}
{"id": "HP:0009820", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb peromelia", "equivalent_identifiers": ["HP:0009820", "UMLS:C4024196"], "information_content": 100.0}
{"id": "HP:0009802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the phalanges of the hand", "equivalent_identifiers": ["HP:0009802", "UMLS:C4024203", "UMLS:C4280393", "SNOMEDCT:1144468002"], "information_content": 80.2}
{"id": "MONDO:0010201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Winchester syndrome", "equivalent_identifiers": ["MONDO:0010201", "DOID:0080696", "OMIM:277950", "UMLS:C0432289", "MESH:C536709", "MEDDRA:10078901", "NCIT:C170731", "SNOMEDCT:254151006", "medgen:98152"], "information_content": 100.0}
{"id": "HP:0001495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpal osteolysis", "equivalent_identifiers": ["HP:0001495", "UMLS:C1833734"], "information_content": 92.8}
{"id": "HP:0006234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolysis involving tarsal bones", "equivalent_identifiers": ["HP:0006234", "UMLS:C1833735"], "information_content": 100.0}
{"id": "MONDO:0013888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 4", "equivalent_identifiers": ["MONDO:0013888", "DOID:0111431", "OMIM:614782", "UMLS:C3539195", "medgen:761337"], "information_content": 100.0}
{"id": "MONDO:0957385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 37, early-onset, with striatal lesions", "equivalent_identifiers": ["MONDO:0957385", "DOID:0060956", "OMIM:620427", "UMLS:C5830592", "medgen:1841228"], "information_content": 100.0}
{"id": "MONDO:0007367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile seizures, familial, 1", "equivalent_identifiers": ["MONDO:0007367", "DOID:0111307", "OMIM:121210", "UMLS:C0393708", "UMLS:C1852577", "MESH:C565162", "SNOMEDCT:230432008", "medgen:338959"], "information_content": 100.0}
{"id": "MONDO:0010656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 1", "equivalent_identifiers": ["MONDO:0010656", "DOID:0112038", "OMIM:309530", "orphanet:397933", "UMLS:C1845181", "UMLS:C2931498", "MESH:C564489", "MESH:C567906", "NCIT:C133729", "SNOMEDCT:774149004", "medgen:444070"], "information_content": 100.0}
{"id": "MONDO:0032928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant", "equivalent_identifiers": ["MONDO:0032928", "OMIM:618806", "orphanet:676039", "UMLS:C5394133", "medgen:1712366"], "information_content": 100.0}
{"id": "MONDO:0012463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 35", "equivalent_identifiers": ["MONDO:0012463", "DOID:0110357", "OMIM:610282", "UMLS:C1853214", "MESH:C565206", "medgen:339931"], "information_content": 100.0}
{"id": "MONDO:0010351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group B", "equivalent_identifiers": ["MONDO:0010351", "DOID:0111098", "OMIM:300514", "UMLS:C1845292", "MESH:C564497", "NCIT:C125703", "medgen:336901"], "information_content": 92.8}
{"id": "MONDO:0008764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 1", "equivalent_identifiers": ["MONDO:0008764", "DOID:0110078", "OMIM:204000", "UMLS:C2931258", "MESH:C536600", "medgen:419026"], "information_content": 100.0}
{"id": "HP:0001099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fundus atrophy", "equivalent_identifiers": ["HP:0001099", "UMLS:C2673929"], "information_content": 100.0}
{"id": "HP:0003296", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperthreoninuria", "equivalent_identifiers": ["HP:0003296", "UMLS:C2673931"], "information_content": 95.4}
{"id": "MONDO:0009724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nail-patella-like renal disease", "equivalent_identifiers": ["MONDO:0009724", "OMIM:256020", "orphanet:2613", "UMLS:C0403548", "MESH:C537228", "SNOMEDCT:236527004", "medgen:140789"], "information_content": 100.0}
{"id": "MONDO:0009572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive familial Mediterranean fever", "equivalent_identifiers": ["MONDO:0009572", "OMIM:249100", "UMLS:C5399837"], "information_content": 100.0}
{"id": "MONDO:0006882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orchitis", "equivalent_identifiers": ["MONDO:0006882", "DOID:2518", "EFO:1001078", "UMLS:C0029191", "MESH:D009920", "MEDDRA:10031064", "MEDDRA:10031069", "MEDDRA:10062590", "NCIT:C97145", "SNOMEDCT:274718005", "medgen:18191", "ICD10:N45.2", "HP:0100796"], "information_content": 85.5}
{"id": "MONDO:0013500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 51", "equivalent_identifiers": ["MONDO:0013500", "DOID:0111996", "OMIM:613953", "UMLS:C4310803", "medgen:934770"], "information_content": 100.0}
{"id": "HP:0031409", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lymphocyte physiology", "equivalent_identifiers": ["HP:0031409", "UMLS:C4531142"], "information_content": 60.6}
{"id": "MONDO:0014778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lamb-Shaffer syndrome", "equivalent_identifiers": ["MONDO:0014778", "OMIM:616803", "orphanet:530983", "UMLS:C4225202", "SNOMEDCT:1251453008", "medgen:903542"], "information_content": 100.0}
{"id": "MONDO:0012367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 31", "equivalent_identifiers": ["MONDO:0012367", "DOID:0110391", "OMIM:609923", "UMLS:C1835923", "MESH:C563685", "medgen:372159"], "information_content": 100.0}
{"id": "MONDO:0957265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 22B, severe fetal", "equivalent_identifiers": ["MONDO:0957265", "DOID:0081355", "OMIM:620369", "UMLS:C5830501", "medgen:1841137"], "information_content": 100.0}
{"id": "MONDO:0013995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, intrahepatic, of pregnancy, 3", "equivalent_identifiers": ["MONDO:0013995", "DOID:0070229", "OMIM:614972", "EFO:0009150", "UMLS:C3554241", "medgen:767155"], "information_content": 100.0}
{"id": "HP:0200150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum bile acid concentration during pregnancy", "equivalent_identifiers": ["HP:0200150", "UMLS:C4020695", "UMLS:C4021882"], "information_content": 100.0}
{"id": "HP:0200148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal liver function tests during pregnancy", "equivalent_identifiers": ["HP:0200148", "UMLS:C2750654", "UMLS:C4021883"], "information_content": 100.0}
{"id": "MONDO:0010772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber optic atrophy and dystonia", "equivalent_identifiers": ["MONDO:0010772", "DOID:0111755", "OMIM:500001", "UMLS:C1839040", "MESH:C536024", "medgen:333240"], "information_content": 100.0}
{"id": "MONDO:0010100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tay-Sachs disease", "equivalent_identifiers": ["MONDO:0010100", "DOID:3320", "OMIM:272800", "orphanet:845", "UMLS:C0039373", "UMLS:C0268277", "UMLS:C0282220", "UMLS:C1848913", "UMLS:C1848915", "UMLS:C1848917", "UMLS:C2749283", "MESH:C564782", "MESH:C564784", "MESH:C564786", "MESH:C567601", "MESH:D013661", "MEDDRA:10043147", "MEDDRA:10061888", "NCIT:C85184", "SNOMEDCT:111385000", "SNOMEDCT:49562005", "medgen:11713", "icd11.foundation:215008783", "ICD10:E75.02"], "information_content": 89.4}
{"id": "HP:0003495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM2-ganglioside accumulation", "equivalent_identifiers": ["HP:0003495", "UMLS:C1848920"], "information_content": 100.0}
{"id": "MONDO:0020765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, congenital hypomyelinating, 2", "equivalent_identifiers": ["MONDO:0020765", "OMIM:618184", "UMLS:C4722277", "medgen:1648446"], "information_content": 100.0}
{"id": "MONDO:0008918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine-acylcarnitine translocase deficiency", "equivalent_identifiers": ["MONDO:0008918", "DOID:0111585", "OMIM:212138", "orphanet:159", "UMLS:C0342791", "MESH:C562812", "MEDDRA:10078729", "NCIT:C133086", "SNOMEDCT:238003000", "medgen:91000", "icd11.foundation:677949122"], "information_content": 100.0}
{"id": "HP:6000575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating 6-pyruvoyltetrahydropterin synthase activity", "equivalent_identifiers": ["HP:6000575", "UMLS:C5937337"], "information_content": 100.0}
{"id": "HP:6000574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue carnitine-acylcarnitine translocase activity", "equivalent_identifiers": ["HP:6000574", "UMLS:C5937336"], "information_content": 100.0}
{"id": "MONDO:0010590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FG syndrome 1", "equivalent_identifiers": ["MONDO:0010590", "OMIM:305450", "orphanet:93932", "UMLS:C5399762", "NCIT:C171270", "SNOMEDCT:1237179007", "medgen:1768809"], "information_content": 100.0}
{"id": "MONDO:0014785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, short stature, and impaired glucose metabolism 2", "equivalent_identifiers": ["MONDO:0014785", "OMIM:616817", "UMLS:C4225195", "medgen:906140"], "information_content": 100.0}
{"id": "MONDO:0009308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative", "equivalent_identifiers": ["MONDO:0009308", "DOID:0070193", "OMIM:233690", "UMLS:C1856255", "MESH:C565533", "medgen:383872"], "information_content": 100.0}
{"id": "MONDO:0008459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar atrophy with pupillary paralysis", "equivalent_identifiers": ["MONDO:0008459", "OMIM:183100", "UMLS:C1866746", "MESH:C566668", "medgen:356608"], "information_content": 100.0}
{"id": "MONDO:0859188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures and brain abnormalities", "equivalent_identifiers": ["MONDO:0859188", "OMIM:619517", "UMLS:C5561979", "medgen:1794189"], "information_content": 100.0}
{"id": "HP:0025444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced amygdala volume", "equivalent_identifiers": ["HP:0025444", "UMLS:C4476780"], "information_content": 100.0}
{"id": "MONDO:0011053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-sparse hair-brachydactyly syndrome", "equivalent_identifiers": ["MONDO:0011053", "DOID:0081441", "OMIM:601358", "orphanet:3051", "UMLS:C1303073", "MESH:C536116", "SNOMEDCT:401046009", "medgen:220983"], "information_content": 100.0}
{"id": "HP:0007946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral narrow palpebral fissure", "equivalent_identifiers": ["HP:0007946", "UMLS:C1866805", "UMLS:C4280419"], "information_content": 100.0}
{"id": "MONDO:0007137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated congenital anosmia", "equivalent_identifiers": ["MONDO:0007137", "OMIM:107200", "orphanet:88620", "UMLS:C0393778", "MESH:C535983", "MEDDRA:10079876", "SNOMEDCT:230502003", "medgen:95992", "icd11.foundation:1603572540"], "information_content": 100.0}
{"id": "MONDO:0008560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to activated protein C resistance", "equivalent_identifiers": ["MONDO:0008560", "DOID:0111902", "OMIM:188055", "UMLS:C0600433", "UMLS:C1861171", "UMLS:C5848173", "MESH:C566056", "MESH:D020016", "MEDDRA:10056867", "MEDDRA:10077457", "SNOMEDCT:421527008", "medgen:396074", "HP:0012175"], "information_content": 100.0}
{"id": "MONDO:0013535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydroxyacyl glutathione hydrolase deficiency", "equivalent_identifiers": ["MONDO:0013535", "OMIM:614033", "UMLS:C3279657", "MESH:C564215", "medgen:481287"], "information_content": 100.0}
{"id": "MONDO:0030996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bleeding disorder, platelet-type, 24", "equivalent_identifiers": ["MONDO:0030996", "OMIM:619271", "UMLS:C5543280", "medgen:1785711"], "information_content": 100.0}
{"id": "MONDO:0044723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 8", "equivalent_identifiers": ["MONDO:0044723", "DOID:0070000", "OMIM:617248", "orphanet:505208", "UMLS:C4310650", "medgen:934617"], "information_content": 100.0}
{"id": "MONDO:0013877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial pyruvate carrier deficiency", "equivalent_identifiers": ["MONDO:0013877", "DOID:0080363", "OMIM:614741", "orphanet:447784", "UMLS:C3553607", "NCIT:C202117", "SNOMEDCT:1217212009", "medgen:766521"], "information_content": 100.0}
{"id": "MONDO:0009258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic galactosemia", "equivalent_identifiers": ["MONDO:0009258", "DOID:0111459", "OMIM:230400", "orphanet:79239", "UMLS:C0268151", "UMLS:C0268152", "UMLS:C3278146", "NCIT:C99104", "SNOMEDCT:10899004", "SNOMEDCT:124354006", "SNOMEDCT:398664009", "medgen:82777", "icd11.foundation:2011000259"], "information_content": 100.0}
{"id": "HP:0410064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of galactitol in red blood cells", "equivalent_identifiers": ["HP:0410064", "UMLS:C4703630"], "information_content": 100.0}
{"id": "HP:0410062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of galactitol in urine", "equivalent_identifiers": ["HP:0410062", "UMLS:C4703628"], "information_content": 100.0}
{"id": "HP:0410063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of galactonate in red blood cells", "equivalent_identifiers": ["HP:0410063", "UMLS:C4703629"], "information_content": 100.0}
{"id": "HP:0410061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of galactitol in plasma", "equivalent_identifiers": ["HP:0410061", "UMLS:C4703627"], "information_content": 100.0}
{"id": "OMIM:613990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyskeratosis Congenita, Autosomal Dominant 3", "equivalent_identifiers": ["OMIM:613990", "UMLS:C3151445", "NCIT:C176923"], "information_content": 100.0}
{"id": "MONDO:0010220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Young syndrome", "equivalent_identifiers": ["MONDO:0010220", "OMIM:279000", "orphanet:3471", "UMLS:C0340037", "MESH:C536718", "MEDDRA:10063689", "SNOMEDCT:233666007", "medgen:137934", "icd11.foundation:1628320490"], "information_content": 100.0}
{"id": "MONDO:0009946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency", "equivalent_identifiers": ["MONDO:0009946", "DOID:0051007", "OMIM:266120", "orphanet:35120", "UMLS:C1849507", "MESH:C564859", "medgen:341470"], "information_content": 100.0}
{"id": "HP:6000240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating pyrimidine 5-prime-nucleotidase activity", "equivalent_identifiers": ["HP:6000240", "UMLS:C5937063"], "information_content": 100.0}
{"id": "MONDO:0009318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hallermann-Streiff syndrome", "equivalent_identifiers": ["MONDO:0009318", "DOID:4534", "OMIM:234100", "orphanet:2108", "UMLS:C0018522", "MESH:D006210", "NCIT:C84746", "SNOMEDCT:7903009", "medgen:5414"], "information_content": 95.4}
{"id": "HP:0006611", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased number of sternal ossification centers", "equivalent_identifiers": ["HP:0006611", "UMLS:C1856223"], "information_content": 100.0}
{"id": "HP:0008194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple pancreatic beta-cell adenomas", "equivalent_identifiers": ["HP:0008194", "UMLS:C4024718"], "information_content": 100.0}
{"id": "MONDO:0859185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and dysmorphic facies", "equivalent_identifiers": ["MONDO:0859185", "OMIM:619503", "UMLS:C5561974", "medgen:1794184"], "information_content": 100.0}
{"id": "HP:0011914", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic hypertrichosis", "equivalent_identifiers": ["HP:0011914", "UMLS:C4023129"], "information_content": 100.0}
{"id": "HP:0031935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ascending aorta hypoplasia", "equivalent_identifiers": ["HP:0031935", "UMLS:C0265882", "SNOMEDCT:12075007"], "information_content": 100.0}
{"id": "MONDO:0009269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geleophysic dysplasia 1", "equivalent_identifiers": ["MONDO:0009269", "DOID:0111725", "OMIM:231050", "UMLS:C3278147", "NCIT:C202607", "medgen:479777"], "information_content": 100.0}
{"id": "HP:0006161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short metacarpals with rounded proximal ends", "equivalent_identifiers": ["HP:0006161", "UMLS:C1856471"], "information_content": 100.0}
{"id": "MONDO:0008885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elsahy-Waters syndrome", "equivalent_identifiers": ["MONDO:0008885", "DOID:0080631", "OMIM:211380", "orphanet:1299", "UMLS:C0809936", "UMLS:C1863870", "MESH:C537084", "MESH:C566373", "SNOMEDCT:719097002", "medgen:923028"], "information_content": 100.0}
{"id": "HP:6000744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature glabellar skin wrinkling", "equivalent_identifiers": ["HP:6000744", "UMLS:C5937473"], "information_content": 100.0}
{"id": "HP:0011079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impacted tooth", "equivalent_identifiers": ["HP:0011079", "NCIT:C82092", "UMLS:C0040456", "UMLS:C4280338", "MEDDRA:10044042", "SNOMEDCT:129263008", "SNOMEDCT:235104008", "MESH:D014095"], "information_content": 95.4}
{"id": "MONDO:0032842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Siddiqi syndrome", "equivalent_identifiers": ["MONDO:0032842", "DOID:0081273", "OMIM:618635", "EFO:0010633", "UMLS:C5231435", "medgen:1684813"], "information_content": 100.0}
{"id": "MONDO:0054588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome-like disorder with loose anagen hair 2", "equivalent_identifiers": ["MONDO:0054588", "DOID:0080693", "OMIM:617506", "UMLS:C4479577", "NCIT:C176940", "medgen:1376945"], "information_content": 100.0}
{"id": "MONDO:0009338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic veno-occlusive disease-immunodeficiency syndrome", "equivalent_identifiers": ["MONDO:0009338", "DOID:0112254", "OMIM:235550", "orphanet:79124", "UMLS:C1856128", "UMLS:C4510630", "MESH:C537257", "SNOMEDCT:724361001", "medgen:344659", "icd11.foundation:712514250"], "information_content": 100.0}
{"id": "MONDO:0009458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schimke immuno-osseous dysplasia", "equivalent_identifiers": ["MONDO:0009458", "DOID:0060490", "OMIM:242900", "orphanet:1830", "UMLS:C0877024", "MESH:C536629", "MEDDRA:10048699", "NCIT:C135087", "SNOMEDCT:723995003", "medgen:164078", "icd11.foundation:2002226225"], "information_content": 100.0}
{"id": "HP:0006453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lateral displacement of the femoral head", "equivalent_identifiers": ["HP:0006453", "UMLS:C1855758"], "information_content": 100.0}
{"id": "MONDO:0029148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 34", "equivalent_identifiers": ["MONDO:0029148", "DOID:0111911", "OMIM:618153", "UMLS:C4748403", "medgen:1648297"], "information_content": 100.0}
{"id": "MONDO:0010294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked severe congenital neutropenia", "equivalent_identifiers": ["MONDO:0010294", "DOID:0112128", "OMIM:300299", "orphanet:86788", "UMLS:C1845987", "MESH:C564539", "NCIT:C176818", "SNOMEDCT:718882006", "medgen:335314"], "information_content": 100.0}
{"id": "MONDO:0014994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0014994", "OMIM:617260", "UMLS:C4310644", "medgen:934611"], "information_content": 100.0}
{"id": "MONDO:0012014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease recessive intermediate A", "equivalent_identifiers": ["MONDO:0012014", "DOID:0110201", "OMIM:608340", "orphanet:217055", "UMLS:C1842197", "MESH:C564256", "medgen:334012"], "information_content": 92.8}
{"id": "MONDO:0011579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset retinal degeneration", "equivalent_identifiers": ["MONDO:0011579", "DOID:0060869", "OMIM:605670", "orphanet:67042", "UMLS:C1854065", "MESH:C565309", "NCIT:C202070", "SNOMEDCT:719431007", "medgen:344198"], "information_content": 100.0}
{"id": "HP:0031531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sub-RPE deposits", "equivalent_identifiers": ["HP:0031531", "UMLS:C4531064"], "information_content": 92.8}
{"id": "HP:0007830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adult-onset night blindness", "equivalent_identifiers": ["HP:0007830", "UMLS:C4024790"], "information_content": 100.0}
{"id": "MONDO:0031006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with ataxia and late-onset optic atrophy", "equivalent_identifiers": ["MONDO:0031006", "OMIM:619259", "UMLS:C5543254", "medgen:1779901"], "information_content": 100.0}
{"id": "MONDO:0029143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with hypertelorism and distinctive facies", "equivalent_identifiers": ["MONDO:0029143", "OMIM:618147", "UMLS:C4748381", "UMLS:C4749153", "medgen:1648403"], "information_content": 100.0}
{"id": "MONDO:0020783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "capillary malformation-arteriovenous malformation 1", "equivalent_identifiers": ["MONDO:0020783", "OMIM:608354", "orphanet:90307", "UMLS:C4747394", "UMLS:C5574870", "MEDDRA:10075554", "SNOMEDCT:234143003", "medgen:1648501"], "information_content": 100.0}
{"id": "MONDO:0001256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriovenous hemangioma/malformation", "equivalent_identifiers": ["MONDO:0001256", "DOID:11294", "UMLS:C0003857", "UMLS:C0334533", "UMLS:C5960017", "MESH:D001165", "MEDDRA:10000035", "MEDDRA:10003186", "MEDDRA:10003193", "MEDDRA:10003229", "MEDDRA:10019389", "MEDDRA:10055898", "NCIT:C2882", "SNOMEDCT:233982006", "SNOMEDCT:234141001", "SNOMEDCT:24551003", "SNOMEDCT:403966009", "medgen:137780", "ICD10:I77.0", "HP:0100026"], "information_content": 78.8}
{"id": "MONDO:0011059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genoa syndrome", "equivalent_identifiers": ["MONDO:0011059", "OMIM:601370", "orphanet:2163", "UMLS:C1832424", "MESH:C537684", "SNOMEDCT:715434005", "medgen:330464"], "information_content": 100.0}
{"id": "MONDO:0009097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent hyperplastic primary vitreous, autosomal recessive", "equivalent_identifiers": ["MONDO:0009097", "OMIM:221900", "UMLS:C1857299", "UMLS:C1867315", "UMLS:C1969783", "MESH:C565633", "MESH:C566717", "MESH:C566966", "medgen:370100"], "information_content": 100.0}
{"id": "HP:0011886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyphema", "equivalent_identifiers": ["HP:0011886", "NCIT:C50592", "UMLS:C0020581", "MEDDRA:10002692", "MEDDRA:10019563", "MEDDRA:10020923", "MEDDRA:10020924", "MEDDRA:10055825", "MEDDRA:10060526", "SNOMEDCT:75229002", "MESH:D006988"], "information_content": 100.0}
{"id": "HP:0032287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ultra-low vision with no light perception", "equivalent_identifiers": ["HP:0032287", "UMLS:C5139244"], "information_content": 100.0}
{"id": "HP:0007899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal nonattachment", "equivalent_identifiers": ["HP:0007899", "UMLS:C4021563"], "information_content": 100.0}
{"id": "MONDO:0100296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olmsted syndrome 1", "equivalent_identifiers": ["MONDO:0100296", "DOID:0112013", "OMIM:614594", "UMLS:C5542829", "medgen:1778121"], "information_content": 100.0}
{"id": "HP:0034521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periorificial hyperkeratosis", "equivalent_identifiers": ["HP:0034521", "UMLS:C5826447"], "information_content": 95.4}
{"id": "HP:6000911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue neuraminidase activity", "equivalent_identifiers": ["HP:6000911", "UMLS:C5970270"], "information_content": 100.0}
{"id": "HP:0012061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary excretion of sialylated oligosaccharides", "equivalent_identifiers": ["HP:0012061", "UMLS:C2673302"], "information_content": 100.0}
{"id": "MONDO:0859333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 70", "equivalent_identifiers": ["MONDO:0859333", "DOID:0061043", "OMIM:620157", "UMLS:C5774271", "medgen:1824044"], "information_content": 100.0}
{"id": "MONDO:0011235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvic dysplasia-arthrogryposis of lower limbs syndrome", "equivalent_identifiers": ["MONDO:0011235", "OMIM:602484", "orphanet:2840", "UMLS:C1865294", "MESH:C535548", "medgen:400731"], "information_content": 100.0}
{"id": "HP:0012894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paraspinal muscle hypertrophy", "equivalent_identifiers": ["HP:0012894", "UMLS:C4022689"], "information_content": 100.0}
{"id": "MONDO:0009232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fuhrmann syndrome", "equivalent_identifiers": ["MONDO:0009232", "DOID:0090067", "OMIM:228930", "orphanet:2854", "UMLS:C1856728", "MESH:C538189", "SNOMEDCT:721296004", "medgen:346429", "ICD10:Q74.8"], "information_content": 100.0}
{"id": "HP:0006262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the 5th finger", "equivalent_identifiers": ["HP:0006262", "UMLS:C4025074"], "information_content": 84.8}
{"id": "HP:0006143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal finger flexion crease", "equivalent_identifiers": ["HP:0006143", "UMLS:C1859481"], "information_content": 86.3}
{"id": "HP:0006265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of fingers", "equivalent_identifiers": ["HP:0006265", "UMLS:C4025071"], "information_content": 71.3}
{"id": "MONDO:0010413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 95", "equivalent_identifiers": ["MONDO:0010413", "OMIM:300716", "UMLS:C2678034", "MESH:C567470", "medgen:394715"], "information_content": 100.0}
{"id": "MONDO:0014367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 7", "equivalent_identifiers": ["MONDO:0014367", "OMIM:615846", "UMLS:C3888244", "NCIT:C168585", "medgen:854829"], "information_content": 100.0}
{"id": "MONDO:0008053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myopia 2", "equivalent_identifiers": ["MONDO:0008053", "OMIM:160700", "UMLS:C1834531", "MESH:C563541", "medgen:331770"], "information_content": 100.0}
{"id": "MONDO:0032721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, kondo-fu type", "equivalent_identifiers": ["MONDO:0032721", "DOID:0112283", "OMIM:618392", "EFO:0010168", "UMLS:C5193071", "medgen:1683128"], "information_content": 100.0}
{"id": "HP:6000819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating beta-glucuronidase activity", "equivalent_identifiers": ["HP:6000819", "UMLS:C5937540"], "information_content": 100.0}
{"id": "MONDO:0008111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculodentodigital dysplasia", "equivalent_identifiers": ["MONDO:0008111", "DOID:0060291", "OMIM:164200", "orphanet:2710", "UMLS:C0812437", "MESH:C563160", "MEDDRA:10063691", "SNOMEDCT:31291009", "SNOMEDCT:38215007", "medgen:167236"], "information_content": 95.4}
{"id": "MONDO:0011730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fumaric aciduria", "equivalent_identifiers": ["MONDO:0011730", "DOID:0111261", "OMIM:606812", "orphanet:24", "UMLS:C0342770", "UMLS:C2936826", "MESH:C538191", "MEDDRA:10088204", "SNOMEDCT:237983002", "medgen:87458"], "information_content": 100.0}
{"id": "HP:0100954", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Open operculum", "equivalent_identifiers": ["HP:0100954", "UMLS:C2675973"], "information_content": 100.0}
{"id": "MONDO:0009754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, lethal congenital, with eosinophilia", "equivalent_identifiers": ["MONDO:0009754", "OMIM:257100", "UMLS:C1850381", "MESH:C564943", "medgen:338037"], "information_content": 100.0}
{"id": "MONDO:0007352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal coloboma syndrome", "equivalent_identifiers": ["MONDO:0007352", "DOID:0090006", "OMIM:120330", "orphanet:1475", "UMLS:C1852759", "MESH:C537168", "MEDDRA:10090293", "NCIT:C123230", "SNOMEDCT:446449009", "medgen:339002", "ICD10:Q60.4"], "information_content": 100.0}
{"id": "HP:0030854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scleral staphyloma", "equivalent_identifiers": ["HP:0030854", "UMLS:C0155359", "MEDDRA:10041951", "SNOMEDCT:111534007"], "information_content": 92.8}
{"id": "MONDO:0009672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, type III", "equivalent_identifiers": ["MONDO:0009672", "DOID:12376", "OMIM:253400", "orphanet:83419", "UMLS:C0152109", "MEDDRA:10023494", "MEDDRA:10079415", "NCIT:C118847", "SNOMEDCT:54280009", "medgen:101816", "icd11.foundation:677572815", "ICD9:335.11"], "information_content": 100.0}
{"id": "MONDO:0032717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta, type 3C", "equivalent_identifiers": ["MONDO:0032717", "DOID:0111722", "OMIM:618386", "UMLS:C5193069", "medgen:1676410"], "information_content": 100.0}
{"id": "HP:0011084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocalcification of dental enamel", "equivalent_identifiers": ["HP:0011084", "UMLS:C4023541"], "information_content": 100.0}
{"id": "MONDO:0033640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D-dependent rickets, type 3", "equivalent_identifiers": ["MONDO:0033640", "OMIM:619073", "UMLS:C5436733", "medgen:1725534"], "information_content": 100.0}
{"id": "MONDO:0014594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 67", "equivalent_identifiers": ["MONDO:0014594", "DOID:0110588", "OMIM:616340", "UMLS:C4084712", "medgen:900413"], "information_content": 100.0}
{"id": "MONDO:0012231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2A2", "equivalent_identifiers": ["MONDO:0012231", "DOID:0110155", "OMIM:609260", "orphanet:99947", "UMLS:C1836485", "UMLS:C4721887", "MESH:C563757", "NCIT:C150646", "SNOMEDCT:764850002", "medgen:1648317", "icd11.foundation:1274363794"], "information_content": 100.0}
{"id": "MONDO:0012805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystonia 18", "equivalent_identifiers": ["MONDO:0012805", "DOID:0090045", "OMIM:612126", "orphanet:98811", "UMLS:C1842534", "MESH:C564288", "SNOMEDCT:724072002", "medgen:330866"], "information_content": 100.0}
{"id": "MONDO:0014291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 54", "equivalent_identifiers": ["MONDO:0014291", "DOID:0110580", "OMIM:615649", "UMLS:C3888029", "medgen:854731"], "information_content": 100.0}
{"id": "MONDO:0013800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2", "equivalent_identifiers": ["MONDO:0013800", "OMIM:614557", "orphanet:300179", "UMLS:C3281160", "UMLS:C4303788", "SNOMEDCT:720859009", "medgen:482790"], "information_content": 100.0}
{"id": "MONDO:0008895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary arterial and articular multiple calcification syndrome", "equivalent_identifiers": ["MONDO:0008895", "DOID:0111582", "OMIM:211800", "orphanet:289601", "UMLS:C1859372", "MESH:C565891", "NCIT:C201591", "SNOMEDCT:718602007", "medgen:347132"], "information_content": 100.0}
{"id": "HP:0005645", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intervertebral disk calcification", "equivalent_identifiers": ["HP:0005645", "UMLS:C0410607", "UMLS:C3506016", "UMLS:C5441558", "MEDDRA:10055038", "SNOMEDCT:240211000"], "information_content": 95.4}
{"id": "HP:0025477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periarticular calcification", "equivalent_identifiers": ["HP:0025477", "UMLS:C0342650", "SNOMEDCT:237898004"], "information_content": 100.0}
{"id": "HP:0031303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoral arterial calcification", "equivalent_identifiers": ["HP:0031303", "UMLS:C4531215"], "information_content": 100.0}
{"id": "HP:0031304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iliac arterial calcification", "equivalent_identifiers": ["HP:0031304", "UMLS:C4531214"], "information_content": 100.0}
{"id": "HP:0031305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial arterial calcification", "equivalent_identifiers": ["HP:0031305", "UMLS:C4531213"], "information_content": 100.0}
{"id": "MONDO:0031481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, epilepsy, and diabetes syndrome 1", "equivalent_identifiers": ["MONDO:0031481", "OMIM:614231", "orphanet:306558"], "information_content": 100.0}
{"id": "MONDO:0010487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 99", "equivalent_identifiers": ["MONDO:0010487", "DOID:0112026", "OMIM:300919", "UMLS:C3806746", "medgen:813076"], "information_content": 100.0}
{"id": "MONDO:0859350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0859350", "OMIM:620194", "UMLS:C5774288", "medgen:1824061"], "information_content": 100.0}
{"id": "MONDO:0859221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yoon-Bellen neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859221", "DOID:0070468", "OMIM:619701", "UMLS:C5562066", "medgen:1794276"], "information_content": 100.0}
{"id": "MONDO:0013641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome 2", "equivalent_identifiers": ["MONDO:0013641", "DOID:0110717", "OMIM:614225", "UMLS:C3280214", "medgen:481844"], "information_content": 100.0}
{"id": "MONDO:0012806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia and immunodeficiency 2", "equivalent_identifiers": ["MONDO:0012806", "DOID:0081079", "OMIM:612132", "UMLS:C2677481", "MESH:C567411", "NCIT:C176826", "medgen:394295"], "information_content": 100.0}
{"id": "HP:0011136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the sweat glands", "equivalent_identifiers": ["HP:0011136", "UMLS:C2677485", "SNOMEDCT:1144873002"], "information_content": 95.4}
{"id": "HP:0011114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Defective production of NFKB1-dependent cytokines", "equivalent_identifiers": ["HP:0011114", "UMLS:C4023533"], "information_content": 100.0}
{"id": "MONDO:0014384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 12", "equivalent_identifiers": ["MONDO:0014384", "DOID:0110709", "OMIM:615885", "UMLS:C4014563", "medgen:863000"], "information_content": 100.0}
{"id": "MONDO:0012546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 3", "equivalent_identifiers": ["MONDO:0012546", "DOID:0080382", "OMIM:610725", "UMLS:C1853124", "medgen:377831"], "information_content": 100.0}
{"id": "MONDO:0011803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 7", "equivalent_identifiers": ["MONDO:0011803", "DOID:0110816", "OMIM:607259", "orphanet:99013", "UMLS:C1846564", "UMLS:C3711370", "MESH:C564599", "MESH:C580457", "NCIT:C181657", "SNOMEDCT:715776003", "medgen:339552"], "information_content": 100.0}
{"id": "HP:0007377", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of somatosensory evoked potentials", "equivalent_identifiers": ["HP:0007377", "UMLS:C4021577"], "information_content": 88.2}
{"id": "MONDO:0034106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 73", "equivalent_identifiers": ["MONDO:0034106", "DOID:0112209", "OMIM:618379", "orphanet:544503", "UMLS:C5193065", "SNOMEDCT:1222659003", "medgen:1681654"], "information_content": 100.0}
{"id": "MONDO:0007321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant chondrodysplasia punctata", "equivalent_identifiers": ["MONDO:0007321", "DOID:0060293", "OMIM:118650", "UMLS:C1442935", "UMLS:C1861578", "UMLS:C1861579", "MESH:C563248", "medgen:303176"], "information_content": 92.8}
{"id": "HP:0007390", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperkeratosis with erythema", "equivalent_identifiers": ["HP:0007390", "UMLS:C4024891"], "information_content": 100.0}
{"id": "HP:0008855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate postnatal growth retardation", "equivalent_identifiers": ["HP:0008855", "UMLS:C4024616"], "information_content": 100.0}
{"id": "MONDO:0014601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 20", "equivalent_identifiers": ["MONDO:0014601", "DOID:0080066", "OMIM:616354", "orphanet:397709", "UMLS:C5190595", "SNOMEDCT:782753000", "medgen:1684324"], "information_content": 100.0}
{"id": "MONDO:0010055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy with microcephaly and mental subnormality", "equivalent_identifiers": ["MONDO:0010055", "OMIM:271110", "UMLS:C1849108", "UMLS:C5935682", "MESH:C564806", "medgen:1856346"], "information_content": 100.0}
{"id": "MONDO:0019079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal spinal muscular atrophy", "equivalent_identifiers": ["MONDO:0019079", "orphanet:70", "UMLS:C4024957", "medgen:870510", "HP:0006959"], "information_content": 84.8}
{"id": "MONDO:0013177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy due to integrin alpha-7 deficiency", "equivalent_identifiers": ["MONDO:0013177", "DOID:0110639", "OMIM:613204", "orphanet:34520", "UMLS:C2750786", "MESH:C567709", "SNOMEDCT:771267003", "medgen:413044"], "information_content": 100.0}
{"id": "MONDO:0011804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome type 2B", "equivalent_identifiers": ["MONDO:0011804", "DOID:0110116", "OMIM:607271", "orphanet:275517", "UMLS:C1846545", "SNOMEDCT:722290008", "medgen:339548"], "information_content": 100.0}
{"id": "HP:0005384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Defective B cell activation", "equivalent_identifiers": ["HP:0005384", "UMLS:C1846551"], "information_content": 95.4}
{"id": "HP:0033278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced CD95-induced lymphocyte apoptosis", "equivalent_identifiers": ["HP:0033278", "UMLS:C5539476"], "information_content": 100.0}
{"id": "MONDO:0014893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Okur-Chung neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0014893", "OMIM:617062", "orphanet:689422", "UMLS:C4310739", "medgen:934706"], "information_content": 100.0}
{"id": "MONDO:0032694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 25, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0032694", "DOID:0051036", "OMIM:618351", "UMLS:C5193046", "medgen:1674123"], "information_content": 100.0}
{"id": "MONDO:0958347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated filum lipoma", "equivalent_identifiers": ["MONDO:0958347", "orphanet:645325", "UMLS:C5816720", "SNOMEDCT:1303443009", "medgen:1853135", "HP:6000184"], "information_content": 100.0}
{"id": "MONDO:0971014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class II deficiency 3", "equivalent_identifiers": ["MONDO:0971014", "OMIM:620816", "UMLS:C1859536", "medgen:347175"], "information_content": 100.0}
{"id": "MONDO:0032752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 75", "equivalent_identifiers": ["MONDO:0032752", "DOID:0112211", "OMIM:618437", "UMLS:C5193099", "medgen:1684253"], "information_content": 100.0}
{"id": "MONDO:0012076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia", "equivalent_identifiers": ["MONDO:0012076", "OMIM:608624", "UMLS:C1837730", "MESH:C563896", "medgen:325238"], "information_content": 100.0}
{"id": "MONDO:0007941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malocclusion due to protuberant upper front teeth", "equivalent_identifiers": ["MONDO:0007941", "OMIM:154300", "UMLS:C1835159", "medgen:331917"], "information_content": 100.0}
{"id": "MONDO:0014050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 8", "equivalent_identifiers": ["MONDO:0014050", "DOID:0060841", "OMIM:615113", "UMLS:C3554524", "medgen:767438"], "information_content": 100.0}
{"id": "HP:0011478", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "True anophthalmia", "equivalent_identifiers": ["HP:0011478", "UMLS:C2675590"], "information_content": 100.0}
{"id": "MONDO:0013313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia-cutaneous syndactyly syndrome", "equivalent_identifiers": ["MONDO:0013313", "OMIM:613576", "orphanet:247827", "UMLS:C3150809", "medgen:462159"], "information_content": 100.0}
{"id": "MONDO:0008602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triglyceride storage disease, type 2", "equivalent_identifiers": ["MONDO:0008602", "OMIM:190430", "UMLS:C1860820", "MESH:C566030", "medgen:349896"], "information_content": 100.0}
{"id": "MONDO:0013635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome 2", "equivalent_identifiers": ["MONDO:0013635", "OMIM:614219", "UMLS:C3280182", "medgen:481812"], "information_content": 100.0}
{"id": "MONDO:0014046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 4", "equivalent_identifiers": ["MONDO:0014046", "DOID:0081000", "OMIM:615107", "UMLS:C3554517", "medgen:767431"], "information_content": 100.0}
{"id": "HP:0012844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichilemmoma", "equivalent_identifiers": ["HP:0012844", "NCIT:C4113", "UMLS:C0334263", "MEDDRA:10044612", "MEDDRA:10057991", "SNOMEDCT:274900003", "SNOMEDCT:46199002"], "information_content": 90.9}
{"id": "HP:0200116", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal ileal atresia", "equivalent_identifiers": ["HP:0200116", "UMLS:C3279409"], "information_content": 100.0}
{"id": "HP:0008696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal hamartoma", "equivalent_identifiers": ["HP:0008696", "NCIT:C5100", "UMLS:C1266142", "UMLS:C1840396", "MEDDRA:10083207", "SNOMEDCT:128761000"], "information_content": 95.4}
{"id": "HP:0100880", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nephrogenic rest", "equivalent_identifiers": ["HP:0100880", "UMLS:C1320468", "SNOMEDCT:405933007"], "information_content": 92.8}
{"id": "HP:0008643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nephroblastomatosis", "equivalent_identifiers": ["HP:0008643", "UMLS:C2675558"], "information_content": 92.8}
{"id": "MONDO:0060578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures", "equivalent_identifiers": ["MONDO:0060578", "OMIM:617710", "orphanet:572798", "UMLS:C4540192", "SNOMEDCT:1260128008", "medgen:1619876"], "information_content": 100.0}
{"id": "MONDO:0011977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "8q22.1 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0011977", "OMIM:608156", "orphanet:178303", "UMLS:C1842464", "MESH:C536110", "SNOMEDCT:719664004", "medgen:334165"], "information_content": 100.0}
{"id": "MONDO:0032689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 85", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0032689", "DOID:0112142", "OMIM:618345", "UMLS:C5193041", "medgen:1682947"], "information_content": 100.0}
{"id": "HP:0007675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive night blindness", "equivalent_identifiers": ["HP:0007675", "UMLS:C4024818"], "information_content": 100.0}
{"id": "MONDO:0008967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 4", "equivalent_identifiers": ["MONDO:0008967", "DOID:0111068", "OMIM:214950", "orphanet:79095", "UMLS:C1858328", "MESH:C535444", "medgen:388039"], "information_content": 100.0}
{"id": "HP:0030985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased serum bile acid concentration", "equivalent_identifiers": ["HP:0030985", "UMLS:C5676648"], "information_content": 95.4}
{"id": "MONDO:0014609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHOPS SYNDROME", "equivalent_identifiers": ["MONDO:0014609", "OMIM:616368", "orphanet:444077", "EFO:0009031", "UMLS:C4085597", "SNOMEDCT:764455002", "medgen:894554"], "information_content": 100.0}
{"id": "MONDO:0012667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1W", "equivalent_identifiers": ["MONDO:0012667", "DOID:0110446", "OMIM:611407", "UMLS:C1969639", "MESH:C566954", "NCIT:C187983", "medgen:370063"], "information_content": 100.0}
{"id": "MONDO:0011558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 2C", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0011558", "DOID:0110839", "OMIM:605472", "UMLS:C2931213", "UMLS:C3148929", "MESH:C536492", "NCIT:C153174", "medgen:419359"], "information_content": 100.0}
{"id": "MONDO:0014404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Webb-Dattani syndrome", "equivalent_identifiers": ["MONDO:0014404", "OMIM:615926", "UMLS:C4014708", "medgen:863145"], "information_content": 100.0}
{"id": "MONDO:0008442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia-neuropathy-poikiloderma syndrome", "equivalent_identifiers": ["MONDO:0008442", "OMIM:182815", "orphanet:2821", "UMLS:C1866851", "MESH:C536870", "medgen:355814"], "information_content": 100.0}
{"id": "MONDO:0958277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 123", "equivalent_identifiers": ["MONDO:0958277", "OMIM:620745", "UMLS:C5935588", "medgen:1861332"], "information_content": 100.0}
{"id": "MONDO:0008925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 46 juvenile-onset", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0008925", "DOID:0110243", "OMIM:212500", "UMLS:C0220721", "UMLS:C2931791", "MESH:C538286", "SNOMEDCT:1003424006", "medgen:113102"], "information_content": 100.0}
{"id": "MONDO:0009944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyloric atresia", "equivalent_identifiers": ["MONDO:0009944", "OMIM:265950", "UMLS:C0266159", "MESH:C562561", "SNOMEDCT:27729002", "medgen:75601"], "information_content": 100.0}
{"id": "DOID:0050769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "N syndrome", "equivalent_identifiers": ["DOID:0050769", "OMIM:310465", "UMLS:C2936859", "MESH:C536108", "SNOMEDCT:723410002"]}
{"id": "MONDO:0859282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures", "equivalent_identifiers": ["MONDO:0859282", "OMIM:620023", "UMLS:C5774208", "medgen:1823981"], "information_content": 100.0}
{"id": "MONDO:0010398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 14", "equivalent_identifiers": ["MONDO:0010398", "DOID:0060821", "OMIM:300676", "UMLS:C1970822", "MESH:C567063", "medgen:372646"], "information_content": 100.0}
{"id": "HP:0011302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long palm", "equivalent_identifiers": ["HP:0011302", "UMLS:C4023422"], "information_content": 100.0}
{"id": "MONDO:0008693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ablepharon macrostomia syndrome", "equivalent_identifiers": ["MONDO:0008693", "DOID:0060550", "OMIM:200110", "orphanet:920", "UMLS:C1860224", "MESH:C535557", "MEDDRA:10083860", "SNOMEDCT:718575002", "medgen:395439"], "information_content": 100.0}
{"id": "HP:0034262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent lanugo", "equivalent_identifiers": ["HP:0034262", "UMLS:C3150092"], "information_content": 100.0}
{"id": "HP:0005105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal morphology", "equivalent_identifiers": ["HP:0005105", "UMLS:C4025252"], "information_content": 65.7}
{"id": "HP:0011267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microtia, third degree", "equivalent_identifiers": ["HP:0011267", "UMLS:C4021174", "UMLS:C4280331"], "information_content": 100.0}
{"id": "MONDO:0010647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, X-linked, 2", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010647", "DOID:0070185", "OMIM:309120", "UMLS:C1839841", "medgen:374322"], "information_content": 100.0}
{"id": "MONDO:0011844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic dystonia 15", "equivalent_identifiers": ["MONDO:0011844", "DOID:0090035", "OMIM:607488", "UMLS:C1843786", "MESH:C538002", "medgen:334492"], "information_content": 100.0}
{"id": "MONDO:0008194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paramolar tubercle of bolk", "equivalent_identifiers": ["MONDO:0008194", "OMIM:168200", "UMLS:C0266029", "SNOMEDCT:78305006", "medgen:539640"], "information_content": 100.0}
{"id": "MONDO:0010721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticuloendotheliosis, X-linked", "equivalent_identifiers": ["MONDO:0010721", "OMIM:312500", "UMLS:C0035288", "MESH:C538362", "MEDDRA:10038800", "MEDDRA:10038803", "NCIT:C34977", "medgen:19757"], "information_content": 100.0}
{"id": "MONDO:0968944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 82", "equivalent_identifiers": ["MONDO:0968944", "DOID:0060947", "OMIM:620779", "UMLS:C5935601", "medgen:1858975"], "information_content": 100.0}
{"id": "MONDO:0013035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome XI", "equivalent_identifiers": ["MONDO:0013035", "DOID:0060381", "OMIM:612913", "orphanet:141000", "UMLS:C2752048", "MESH:C557821", "SNOMEDCT:718681002", "medgen:416694"], "information_content": 100.0}
{"id": "MONDO:0030798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias", "equivalent_identifiers": ["MONDO:0030798", "DOID:0061069", "OMIM:619846", "UMLS:C5676971", "medgen:1801342"], "information_content": 100.0}
{"id": "MONDO:0011752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 4", "equivalent_identifiers": ["MONDO:0011752", "DOID:0111115", "OMIM:606966", "UMLS:C1847013", "UMLS:C2959367", "MESH:C564640", "SNOMEDCT:446989009", "medgen:339667"], "information_content": 100.0}
{"id": "MONDO:0032822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 80", "equivalent_identifiers": ["MONDO:0032822", "DOID:0112216", "OMIM:618580", "UMLS:C5231418", "medgen:1684779"], "information_content": 100.0}
{"id": "MONDO:0010473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome", "equivalent_identifiers": ["MONDO:0010473", "DOID:0060828", "OMIM:300886", "orphanet:324410", "UMLS:C3550913", "medgen:763827"], "information_content": 100.0}
{"id": "MONDO:0032826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 21", "equivalent_identifiers": ["MONDO:0032826", "DOID:0112267", "OMIM:618594", "UMLS:C5231498", "medgen:1684676"], "information_content": 100.0}
{"id": "MONDO:0009846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pentosuria", "equivalent_identifiers": ["MONDO:0009846", "DOID:0111258", "OMIM:260800", "orphanet:2843", "UMLS:C0268162", "MESH:C536652", "MEDDRA:10064170", "SNOMEDCT:190764000", "medgen:78646", "ICD10:E74.89"], "information_content": 100.0}
{"id": "HP:0025742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine L-xylulose level", "equivalent_identifiers": ["HP:0025742", "UMLS:C5970222"], "information_content": 100.0}
{"id": "MONDO:0010171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1C", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0010171", "DOID:0110830", "OMIM:276904", "UMLS:C1848604", "MESH:C564753", "medgen:338506"], "information_content": 100.0}
{"id": "MONDO:0032603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type A9", "equivalent_identifiers": ["MONDO:0032603", "OMIM:618219", "EFO:0010250", "UMLS:C4748721", "medgen:1648428"], "information_content": 100.0}
{"id": "MONDO:0968977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 9, autosomal recessive", "equivalent_identifiers": ["MONDO:0968977", "OMIM:620786", "UMLS:C5935607", "medgen:1854926"], "information_content": 100.0}
{"id": "MONDO:0009170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocardial fibroelastosis and coarctation of abdominal aorta", "equivalent_identifiers": ["MONDO:0009170", "OMIM:226100", "UMLS:C1856971", "MESH:C565592", "medgen:341665"], "information_content": 100.0}
{"id": "HP:0004974", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coarctation of abdominal aorta", "equivalent_identifiers": ["HP:0004974", "UMLS:C4025263"], "information_content": 100.0}
{"id": "MONDO:0010036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital secretory sodium diarrhea 3", "equivalent_identifiers": ["MONDO:0010036", "DOID:0060781", "OMIM:270420", "UMLS:C5441927", "MESH:C562576", "medgen:1778108"], "information_content": 100.0}
{"id": "MONDO:0013707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 24", "equivalent_identifiers": ["MONDO:0013707", "DOID:0081197", "OMIM:614345", "UMLS:C3280543", "medgen:482173"], "information_content": 100.0}
{"id": "MONDO:0030634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, hereditary diffuse, with spheroids 2", "equivalent_identifiers": ["MONDO:0030634", "OMIM:619661", "UMLS:C5562044", "medgen:1794254"], "information_content": 100.0}
{"id": "MONDO:0009103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphragmatic hernia 2", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009103", "OMIM:222400", "UMLS:C1857284", "MESH:C565629", "medgen:347411"], "information_content": 100.0}
{"id": "MONDO:0014688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 14 with polydactyly", "equivalent_identifiers": ["MONDO:0014688", "DOID:0110096", "OMIM:616546", "UMLS:C4225286", "medgen:901479"], "information_content": 100.0}
{"id": "MONDO:0008901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tel Hashomer camptodactyly syndrome", "equivalent_identifiers": ["MONDO:0008901", "OMIM:211960", "orphanet:3292", "UMLS:C1859356", "MESH:C536953", "SNOMEDCT:719946008", "medgen:347860"], "information_content": 100.0}
{"id": "HP:0005689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermatoglyphic ridges abnormal", "equivalent_identifiers": ["HP:0005689", "UMLS:C4025152"], "information_content": 100.0}
{"id": "MONDO:0007269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1A", "equivalent_identifiers": ["MONDO:0007269", "DOID:0110425", "OMIM:115200", "orphanet:300751", "UMLS:C1449563", "UMLS:C4707865", "UMLS:C5979868", "NCIT:C165596", "SNOMEDCT:53043001", "SNOMEDCT:766883006", "medgen:258500"], "information_content": 100.0}
{"id": "MONDO:0013754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa, autosomal recessive, type 1B", "equivalent_identifiers": ["MONDO:0013754", "DOID:0070133", "OMIM:614437", "UMLS:C3280798", "medgen:482428"], "information_content": 100.0}
{"id": "HP:0040044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the diaphragm", "equivalent_identifiers": ["HP:0040044", "UMLS:C4022473"], "information_content": 100.0}
{"id": "MONDO:0030862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COACH syndrome 3", "equivalent_identifiers": ["MONDO:0030862", "OMIM:619113", "UMLS:C5436841", "medgen:1755565"], "information_content": 100.0}
{"id": "MONDO:0014539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 9", "equivalent_identifiers": ["MONDO:0014539", "DOID:0111134", "OMIM:616220", "UMLS:C4015555", "medgen:863992"], "information_content": 100.0}
{"id": "MONDO:0968980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 12", "equivalent_identifiers": ["MONDO:0968980", "OMIM:620792", "UMLS:C5935610", "medgen:1856162"], "information_content": 100.0}
{"id": "MONDO:0012531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group B", "equivalent_identifiers": ["MONDO:0012531", "DOID:0110850", "OMIM:610651", "UMLS:C0268136", "UMLS:C1970808", "MESH:C562590", "MESH:C567061", "NCIT:C3966", "SNOMEDCT:1073003", "medgen:78643"], "information_content": 92.8}
{"id": "MONDO:0008016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hecht syndrome", "equivalent_identifiers": ["MONDO:0008016", "DOID:0111603", "OMIM:158300", "orphanet:3377", "UMLS:C0265226", "MESH:C535857", "SNOMEDCT:8757006", "medgen:78540"], "information_content": 100.0}
{"id": "MONDO:0013240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 10", "equivalent_identifiers": ["MONDO:0013240", "DOID:0111108", "OMIM:613370", "UMLS:C3150617", "SNOMEDCT:609577006", "medgen:461967"], "information_content": 100.0}
{"id": "MONDO:0012819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic ketoacidosis", "equivalent_identifiers": ["MONDO:0012819", "DOID:1837", "EFO:1000897", "UMLS:C0011880", "MESH:D016883", "MEDDRA:10000488", "MEDDRA:10012622", "MEDDRA:10012632", "MEDDRA:10012642", "MEDDRA:10012671", "MEDDRA:10012673", "MEDDRA:10023380", "NCIT:C50530", "SNOMEDCT:420422005", "medgen:8351", "ICD9:250.1", "HP:0001953"], "information_content": 95.4}
{"id": "MONDO:0020684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, periodontal type 1", "equivalent_identifiers": ["MONDO:0020684", "DOID:0080986", "OMIM:130080", "UMLS:C4551499", "medgen:1642148"], "information_content": 100.0}
{"id": "HP:0034518", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gingival fragility", "equivalent_identifiers": ["HP:0034518", "UMLS:C4315966"], "information_content": 100.0}
{"id": "HP:0034517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pretibial hyperpigmentation", "equivalent_identifiers": ["HP:0034517", "UMLS:C4315981"], "information_content": 100.0}
{"id": "HP:0410027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alveolar bone loss around teeth", "equivalent_identifiers": ["HP:0410027", "UMLS:C4315963"], "information_content": 100.0}
{"id": "MONDO:0014531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 22", "equivalent_identifiers": ["MONDO:0014531", "DOID:0060355", "OMIM:616208", "UMLS:C4015512", "medgen:863949"], "information_content": 100.0}
{"id": "MONDO:0014924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial focal, with variable foci 2", "equivalent_identifiers": ["MONDO:0014924", "DOID:0081422", "OMIM:617116", "UMLS:C4310709", "medgen:934676"], "information_content": 100.0}
{"id": "MONDO:0032609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 4", "equivalent_identifiers": ["MONDO:0032609", "DOID:0112082", "OMIM:618225", "UMLS:C4748753", "medgen:1648324"], "information_content": 100.0}
{"id": "MONDO:0008678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Williams syndrome", "equivalent_identifiers": ["MONDO:0008678", "DOID:1928", "OMIM:194050", "orphanet:904", "UMLS:C0175702", "MESH:D018980", "MEDDRA:10049644", "NCIT:C85232", "SNOMEDCT:63247009", "medgen:59799", "ICD10:Q93.82"], "information_content": 100.0}
{"id": "HP:0010794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired visuospatial constructive cognition", "equivalent_identifiers": ["HP:0010794", "UMLS:C4023701"], "information_content": 100.0}
{"id": "HP:0100000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early onset of sexual maturation", "equivalent_identifiers": ["HP:0100000", "UMLS:C4022392"], "information_content": 83.6}
{"id": "MONDO:0012167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 2", "equivalent_identifiers": ["MONDO:0012167", "OMIM:608988", "UMLS:C1837812", "MESH:C563903", "medgen:324886"], "information_content": 100.0}
{"id": "MONDO:0010453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 92", "equivalent_identifiers": ["MONDO:0010453", "DOID:0112032", "OMIM:300851", "UMLS:C1845144", "MESH:C564483", "medgen:335109"], "information_content": 100.0}
{"id": "MONDO:0011530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesomelic dysplasia, Savarirayan type", "equivalent_identifiers": ["MONDO:0011530", "OMIM:605274", "orphanet:85170", "UMLS:C1854470", "MESH:C565349", "SNOMEDCT:715652002", "medgen:343129", "icd11.foundation:1627637820"], "information_content": 100.0}
{"id": "MONDO:0007260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Car factor deficiency", "equivalent_identifiers": ["MONDO:0007260", "OMIM:114650", "UMLS:C1861898", "MESH:C566176", "medgen:354615"], "information_content": 100.0}
{"id": "MONDO:0014030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 20", "equivalent_identifiers": ["MONDO:0014030", "DOID:0110625", "OMIM:615067", "UMLS:C3540844", "medgen:761920"], "information_content": 100.0}
{"id": "HP:0011538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrial situs inversus", "equivalent_identifiers": ["HP:0011538", "UMLS:C4023312", "SNOMEDCT:871616009"], "information_content": 100.0}
{"id": "MONDO:0013720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component 4b deficiency", "equivalent_identifiers": ["MONDO:0013720", "DOID:0060298", "OMIM:614379", "UMLS:C3280641", "UMLS:C5779962", "medgen:482271", "HP:0045044"], "information_content": 100.0}
{"id": "MONDO:0014033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 25", "equivalent_identifiers": ["MONDO:0014033", "DOID:0090055", "OMIM:615073", "orphanet:329466", "UMLS:C4304670", "SNOMEDCT:719516000", "medgen:930339"], "information_content": 100.0}
{"id": "MONDO:0009608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methionine malabsorption syndrome", "equivalent_identifiers": ["MONDO:0009608", "OMIM:250900", "UMLS:C0268622", "MESH:C562682", "SNOMEDCT:45812003", "medgen:78693", "icd11.foundation:1061270147"], "information_content": 100.0}
{"id": "MONDO:0013254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, seizures, and developmental delay", "equivalent_identifiers": ["MONDO:0013254", "DOID:0080457", "OMIM:613402", "UMLS:C3150667", "medgen:462017"], "information_content": 100.0}
{"id": "MONDO:0054654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 32", "equivalent_identifiers": ["MONDO:0054654", "DOID:0111492", "OMIM:617664", "UMLS:C4540029", "medgen:1617600"], "information_content": 100.0}
{"id": "MONDO:0032812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 78", "equivalent_identifiers": ["MONDO:0032812", "DOID:0112214", "OMIM:618557", "UMLS:C5231409", "medgen:1684724"], "information_content": 100.0}
{"id": "MONDO:0859210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16q12 duplication syndrome", "equivalent_identifiers": ["MONDO:0859210", "OMIM:619649", "UMLS:C5562082", "medgen:1794292"], "information_content": 100.0}
{"id": "HP:6000367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central thinning of the outer nuclear layer of the retina", "equivalent_identifiers": ["HP:6000367", "UMLS:C5937159"], "information_content": 100.0}
{"id": "HP:6000769", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paracentral hyper-autofluorecence", "equivalent_identifiers": ["HP:6000769", "UMLS:C5937497"], "information_content": 100.0}
{"id": "MONDO:0010448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0010448", "OMIM:300845", "orphanet:280679", "UMLS:C3151857", "medgen:463207", "icd11.foundation:673174743"], "information_content": 100.0}
{"id": "HP:0005288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nostril morphology", "equivalent_identifiers": ["HP:0005288", "UMLS:C4021637"], "information_content": 82.6}
{"id": "HP:0001711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal left ventricle morphology", "equivalent_identifiers": ["HP:0001711", "UMLS:C0344905", "SNOMEDCT:253535002", "SNOMEDCT:871660009"], "information_content": 78.3}
{"id": "MONDO:0014915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 16 with or without polydactyly", "equivalent_identifiers": ["MONDO:0014915", "OMIM:617102", "UMLS:C4310718", "medgen:934685"], "information_content": 100.0}
{"id": "HP:0032078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angel-shaped phalanx", "equivalent_identifiers": ["HP:0032078", "UMLS:C5139114"], "information_content": 100.0}
{"id": "MONDO:0032614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermodysplasia verruciformis, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0032614", "OMIM:618231", "UMLS:C4722258", "medgen:1648344"], "information_content": 100.0}
{"id": "HP:0020114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent human papillomavirus infection", "equivalent_identifiers": ["HP:0020114", "UMLS:C5139087"], "information_content": 100.0}
{"id": "HP:0550004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Verruca plana", "equivalent_identifiers": ["HP:0550004", "NCIT:C203969", "UMLS:C0276262", "MEDDRA:10016765", "MEDDRA:10035150", "SNOMEDCT:1296946004", "SNOMEDCT:240539000"], "information_content": 100.0}
{"id": "MONDO:0011946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphanospondylodysostosis", "equivalent_identifiers": ["MONDO:0011946", "OMIM:608022", "orphanet:66637", "UMLS:C1842691", "MESH:C564305", "SNOMEDCT:721094006", "medgen:374993", "icd11.foundation:508093071"], "information_content": 100.0}
{"id": "HP:0006615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent in utero rib ossification", "equivalent_identifiers": ["HP:0006615", "UMLS:C1842695"], "information_content": 100.0}
{"id": "HP:0008435", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent in utero ossification of vertebral bodies", "equivalent_identifiers": ["HP:0008435", "UMLS:C1842698"], "information_content": 100.0}
{"id": "HP:0100752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal liver lobulation", "equivalent_identifiers": ["HP:0100752", "UMLS:C0345286", "SNOMEDCT:253811003"], "information_content": 100.0}
{"id": "HP:0025706", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent fetal nasal bone", "equivalent_identifiers": ["HP:0025706", "UMLS:C0685228", "SNOMEDCT:93110005"], "information_content": 100.0}
{"id": "HP:0030290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unossified sacrum", "equivalent_identifiers": ["HP:0030290", "UMLS:C2675562"], "information_content": 100.0}
{"id": "MONDO:0013239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 41", "equivalent_identifiers": ["MONDO:0013239", "DOID:0110793", "OMIM:613364", "orphanet:320355", "UMLS:C3888208", "SNOMEDCT:763069002", "medgen:854815"], "information_content": 100.0}
{"id": "MONDO:0014317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancytopenia-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014317", "OMIM:615715", "orphanet:401764", "UMLS:C3810350", "medgen:816680"], "information_content": 100.0}
{"id": "MONDO:0859363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 79A, autosomal dominant, with ataxia", "equivalent_identifiers": ["MONDO:0859363", "DOID:0070455", "OMIM:620221", "UMLS:C5774300", "medgen:1824073"], "information_content": 100.0}
{"id": "MONDO:0100046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exfoliation syndrome, susceptibility to", "equivalent_identifiers": ["MONDO:0100046", "OMIM:177650", "UMLS:C4016255", "medgen:864692"], "information_content": 100.0}
{"id": "HP:0012635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris hypoperfusion", "equivalent_identifiers": ["HP:0012635", "UMLS:C4022812"], "information_content": 100.0}
{"id": "MONDO:0006951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal vein occlusion", "equivalent_identifiers": ["MONDO:0006951", "DOID:1727", "EFO:1001157", "UMLS:C0035328", "UMLS:C1527411", "MESH:D012170", "MEDDRA:10030009", "MEDDRA:10038907", "MEDDRA:10038908", "MEDDRA:10043638", "NCIT:C34981", "SNOMEDCT:1237532002", "SNOMEDCT:46085004", "medgen:19763", "HP:0012636"], "information_content": 89.4}
{"id": "HP:0012627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoexfoliation", "equivalent_identifiers": ["HP:0012627", "UMLS:C4022815"], "information_content": 100.0}
{"id": "HP:0012631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigment deposition in the trabecular meshwork", "equivalent_identifiers": ["HP:0012631", "UMLS:C3805899"], "information_content": 100.0}
{"id": "HP:0012633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetry of intraocular pressure", "equivalent_identifiers": ["HP:0012633", "UMLS:C3805901"], "information_content": 95.4}
{"id": "MONDO:0001176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lens disorder", "equivalent_identifiers": ["MONDO:0001176", "DOID:110", "EFO:0009674", "UMLS:C0023308", "UMLS:C0549651", "MESH:D007905", "MEDDRA:10024204", "MEDDRA:10061219", "NCIT:C26812", "SNOMEDCT:10810001", "medgen:892382", "ICD10:H27.9", "HP:0000517"], "information_content": 68.2}
{"id": "MONDO:0008492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stiff skin syndrome", "equivalent_identifiers": ["MONDO:0008492", "DOID:0111561", "OMIM:184900", "orphanet:2833", "UMLS:C1861456", "MESH:C566112", "MEDDRA:10085085", "NCIT:C118636", "SNOMEDCT:765187004", "medgen:348877", "icd11.foundation:642409035"], "information_content": 95.4}
{"id": "HP:0030053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff skin", "equivalent_identifiers": ["HP:0030053", "UMLS:C3276815"], "information_content": 100.0}
{"id": "MONDO:0957821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 88", "equivalent_identifiers": ["MONDO:0957821", "DOID:0070587", "OMIM:620547", "UMLS:C5882706", "medgen:1845113"], "information_content": 100.0}
{"id": "MONDO:0011183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paget disease of bone 2, early-onset", "equivalent_identifiers": ["MONDO:0011183", "DOID:0081365", "OMIM:602080", "UMLS:C4085251", "medgen:899166"], "information_content": 100.0}
{"id": "HP:0003991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteosclerosis of the ulna", "equivalent_identifiers": ["HP:0003991", "UMLS:C4021697"], "information_content": 100.0}
{"id": "HP:0002512", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brain stem compression", "equivalent_identifiers": ["HP:0002512", "UMLS:C0270680", "MEDDRA:10089006", "SNOMEDCT:25816005", "SNOMEDCT:5582005"], "information_content": 100.0}
{"id": "MONDO:0012851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic nephrolithiasis/osteoporosis 2", "equivalent_identifiers": ["MONDO:0012851", "DOID:0080078", "OMIM:612287", "UMLS:C2676782", "MESH:C567362", "medgen:394127"], "information_content": 100.0}
{"id": "MONDO:0044702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0044702", "DOID:0111738", "OMIM:301018", "orphanet:500188", "UMLS:C4746975", "medgen:1648389"], "information_content": 100.0}
{"id": "MONDO:0008910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carboxypeptidase N deficiency", "equivalent_identifiers": ["MONDO:0008910", "DOID:0111583", "OMIM:212070", "UMLS:C0398782", "MESH:C562876", "NCIT:C132196", "SNOMEDCT:124493003", "SNOMEDCT:234627009", "medgen:98312"], "information_content": 100.0}
{"id": "HP:6000560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating carboxypeptidase N activity", "equivalent_identifiers": ["HP:6000560", "UMLS:C5937322"], "information_content": 100.0}
{"id": "MONDO:0859371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdomyolysis, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0859371", "OMIM:620235", "UMLS:C5774307", "medgen:1824080"], "information_content": 100.0}
{"id": "MONDO:0033545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 19", "equivalent_identifiers": ["MONDO:0033545", "DOID:0070450", "OMIM:618972", "UMLS:C5436514", "medgen:1770258"], "information_content": 100.0}
{"id": "MONDO:0013447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 48", "equivalent_identifiers": ["MONDO:0013447", "DOID:0110382", "OMIM:613827", "UMLS:C3151190", "medgen:462540"], "information_content": 100.0}
{"id": "MONDO:0013616", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigmented nodular adrenocortical disease, primary, 3", "equivalent_identifiers": ["MONDO:0013616", "DOID:0070548", "OMIM:614190", "UMLS:C3280094", "medgen:481724"], "information_content": 100.0}
{"id": "MONDO:0032915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 16", "equivalent_identifiers": ["MONDO:0032915", "DOID:0070533", "OMIM:618782", "UMLS:C5394068", "medgen:1713991"], "information_content": 100.0}
{"id": "HP:0011648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patent ductus arteriosus after birth at term", "equivalent_identifiers": ["HP:0011648", "UMLS:C4023249"], "information_content": 100.0}
{"id": "MONDO:0010328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-thalassemia-myelodysplastic syndrome", "equivalent_identifiers": ["MONDO:0010328", "DOID:0112125", "OMIM:300448", "orphanet:231401", "UMLS:C0585216", "MESH:C563023", "SNOMEDCT:307343001", "medgen:108433"], "information_content": 100.0}
{"id": "HP:0011907", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced alpha/beta synthesis ratio", "equivalent_identifiers": ["HP:0011907", "UMLS:C4023136"], "information_content": 100.0}
{"id": "MONDO:0013512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HbH hemoglobin", "equivalent_identifiers": ["MONDO:0013512", "DOID:0110031", "OMIM:613978", "orphanet:93616", "UMLS:C3161174", "UMLS:C3279561", "UMLS:C5886847", "MEDDRA:10063433", "MEDDRA:10063434", "MEDDRA:10063435", "MEDDRA:10074051", "NCIT:C95504", "SNOMEDCT:48553001", "medgen:468531", "icd11.foundation:9436211", "HP:0011903"], "information_content": 100.0}
{"id": "MONDO:0014858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 43", "equivalent_identifiers": ["MONDO:0014858", "DOID:0070073", "OMIM:616977", "UMLS:C4310771", "UMLS:C4707429", "SNOMEDCT:765434008", "medgen:934738"], "information_content": 100.0}
{"id": "MONDO:0008817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial calcification, generalized, of infancy, 1", "equivalent_identifiers": ["MONDO:0008817", "OMIM:208000", "UMLS:C1859728", "UMLS:C4551985", "MESH:C565944", "NCIT:C128805", "medgen:1631685"], "information_content": 100.0}
{"id": "HP:0004940", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized arterial calcification", "equivalent_identifiers": ["HP:0004940", "UMLS:C4025269"], "information_content": 100.0}
{"id": "HP:0031313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal aortic calcification", "equivalent_identifiers": ["HP:0031313", "UMLS:C4531207"], "information_content": 100.0}
{"id": "HP:0031314", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carotid artery calcification", "equivalent_identifiers": ["HP:0031314", "UMLS:C4285890", "MEDDRA:10078214"], "information_content": 92.8}
{"id": "HP:0100545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arterial stenosis", "equivalent_identifiers": ["HP:0100545", "NCIT:C197970", "UMLS:C0038449", "MEDDRA:10003177", "MEDDRA:10042233", "MEDDRA:10060965", "SNOMEDCT:68109007", "SNOMEDCT:726490008"], "information_content": 79.9}
{"id": "MONDO:0015601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, van Esch type", "equivalent_identifiers": ["MONDO:0015601", "DOID:0111840", "OMIM:301030", "orphanet:163976", "UMLS:C4305072", "SNOMEDCT:718914002", "medgen:930741"], "information_content": 100.0}
{"id": "HP:0008757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral vocal cord paralysis", "equivalent_identifiers": ["HP:0008757", "UMLS:C0751575"], "information_content": 100.0}
{"id": "MONDO:0007634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, FRA12A type", "equivalent_identifiers": ["MONDO:0007634", "DOID:0061049", "OMIM:136630", "UMLS:C1969893", "MESH:C566980", "medgen:369613"], "information_content": 100.0}
{"id": "MONDO:0026723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked 108", "equivalent_identifiers": ["MONDO:0026723", "DOID:0111844", "OMIM:301024", "UMLS:C5193009", "medgen:1680544"], "information_content": 100.0}
{"id": "MONDO:0008297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "variegate porphyria", "equivalent_identifiers": ["MONDO:0008297", "DOID:4346", "OMIM:176200", "orphanet:79473", "UMLS:C0162532", "MESH:D046350", "MEDDRA:10047030", "NCIT:C85219", "SNOMEDCT:58275005", "medgen:58118", "icd11.foundation:1227474618"], "information_content": 95.4}
{"id": "HP:0034283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal protoporphyrin concentration", "equivalent_identifiers": ["HP:0034283", "UMLS:C5676846"], "information_content": 100.0}
{"id": "MONDO:0010738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, Golden type", "equivalent_identifiers": ["MONDO:0010738", "OMIM:313420", "orphanet:168544", "UMLS:C0796172", "MESH:C563124", "SNOMEDCT:773304004", "medgen:208672", "icd11.foundation:840695879"], "information_content": 100.0}
{"id": "MONDO:0008243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pick disease", "equivalent_identifiers": ["MONDO:0008243", "DOID:11870", "OMIM:172700", "EFO:0003096", "UMLS:C0236642", "MESH:D020774", "MEDDRA:10009204", "MEDDRA:10035003", "NCIT:C85008", "SNOMEDCT:13092008", "medgen:116020", "ICD10:G31.01", "ICD9:331.11"], "information_content": 100.0}
{"id": "HP:0030213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blunted Affect", "equivalent_identifiers": ["HP:0030213", "NCIT:C117195", "UMLS:C0233469", "MEDDRA:10005885", "SNOMEDCT:6140007"], "information_content": 100.0}
{"id": "MONDO:0014851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercalcemia, infantile, 2", "equivalent_identifiers": ["MONDO:0014851", "OMIM:616963", "UMLS:C4310473", "MEDDRA:10090538", "MEDDRA:10090541", "medgen:934441"], "information_content": 100.0}
{"id": "MONDO:0008970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia Blomstrand type", "equivalent_identifiers": ["MONDO:0008970", "DOID:0060387", "OMIM:215045", "orphanet:50945", "UMLS:C1859148", "MESH:C537914", "NCIT:C131420", "medgen:395189"], "information_content": 100.0}
{"id": "HP:0008754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngeal calcification", "equivalent_identifiers": ["HP:0008754", "UMLS:C1859158"], "information_content": 100.0}
{"id": "MONDO:0009660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 4B", "equivalent_identifiers": ["MONDO:0009660", "DOID:0111392", "OMIM:253010", "orphanet:309310", "UMLS:C0086652", "NCIT:C84902", "SNOMEDCT:238044004", "medgen:43376", "icd11.foundation:1479415032", "ICD10:E76.211"], "information_content": 100.0}
{"id": "HP:0005292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intimal thickening in the coronary arteries", "equivalent_identifiers": ["HP:0005292", "UMLS:C1968633"], "information_content": 100.0}
{"id": "MONDO:0859181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DEGCAGS syndrome", "equivalent_identifiers": ["MONDO:0859181", "OMIM:619488", "UMLS:C5561967", "medgen:1794177"], "information_content": 100.0}
{"id": "MONDO:0019645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal dysplasia, bilateral", "equivalent_identifiers": ["MONDO:0019645", "orphanet:93173", "UMLS:C0431698", "NCIT:C101313", "SNOMEDCT:204950001", "medgen:609101", "HP:0012582"], "information_content": 100.0}
{"id": "HP:0025408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal spleen morphology", "equivalent_identifiers": ["HP:0025408", "UMLS:C1096307", "UMLS:C4476761", "MEDDRA:10054829", "SNOMEDCT:141701000119101"], "information_content": 68.3}
{"id": "HP:0040119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral conductive hearing impairment", "equivalent_identifiers": ["HP:0040119", "UMLS:C4022428"], "information_content": 100.0}
{"id": "HP:0011035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal cortex morphology", "equivalent_identifiers": ["HP:0011035", "UMLS:C4023580"], "information_content": 64.1}
{"id": "HP:0025429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cry", "equivalent_identifiers": ["HP:0025429", "UMLS:C0235939", "MEDDRA:10011470"], "information_content": 89.4}
{"id": "HP:0200053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemihypotrophy of lower limb", "equivalent_identifiers": ["HP:0200053", "UMLS:C1844734"], "information_content": 100.0}
{"id": "MONDO:0030397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "portal hypertension, noncirrhotic, 2", "equivalent_identifiers": ["MONDO:0030397", "OMIM:619463", "UMLS:C5561948", "medgen:1794158"], "information_content": 100.0}
{"id": "MONDO:0007836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IVIC syndrome", "equivalent_identifiers": ["MONDO:0007836", "DOID:0111381", "OMIM:147750", "orphanet:2307", "UMLS:C1327918", "MESH:C535544", "SNOMEDCT:722019000", "medgen:233003"], "information_content": 100.0}
{"id": "HP:0008953", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pectoralis major hypoplasia", "equivalent_identifiers": ["HP:0008953", "UMLS:C1840086"], "information_content": 92.8}
{"id": "HP:0006064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited interphalangeal movement", "equivalent_identifiers": ["HP:0006064", "UMLS:C1840089"], "information_content": 100.0}
{"id": "MONDO:0010827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 14", "equivalent_identifiers": ["MONDO:0010827", "DOID:0110381", "OMIM:600132", "UMLS:C1838603", "MESH:C563992", "medgen:325056"], "information_content": 100.0}
{"id": "HP:0040143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystopic os odontoideum", "equivalent_identifiers": ["HP:0040143", "UMLS:C3552843"], "information_content": 100.0}
{"id": "MONDO:0007224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly, type E, with atrial septal defect, type 2", "equivalent_identifiers": ["MONDO:0007224", "OMIM:113301", "UMLS:C1862101", "MESH:C566193", "medgen:354662"], "information_content": 100.0}
{"id": "HP:0011520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deuteranomaly", "equivalent_identifiers": ["HP:0011520", "UMLS:C3887938"], "information_content": 100.0}
{"id": "MONDO:0013829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "UV-sensitive syndrome 2", "equivalent_identifiers": ["MONDO:0013829", "OMIM:614621", "UMLS:C3553298", "NCIT:C173110", "medgen:766212"], "information_content": 100.0}
{"id": "HP:0010472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating porphyrin concentration", "equivalent_identifiers": ["HP:0010472", "UMLS:C4023814"], "information_content": 86.3}
{"id": "MONDO:0011464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 11", "equivalent_identifiers": ["MONDO:0011464", "DOID:0050961", "OMIM:604432", "orphanet:98767", "UMLS:C1858351", "MESH:C565772", "SNOMEDCT:719207000", "medgen:346799", "icd11.foundation:743674840"], "information_content": 100.0}
{"id": "MONDO:0007168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atelosteogenesis type III", "equivalent_identifiers": ["MONDO:0007168", "OMIM:108721", "orphanet:56305", "UMLS:C3668942", "MESH:C579928", "SNOMEDCT:725142004", "medgen:777149", "icd11.foundation:1997882528"], "information_content": 100.0}
{"id": "HP:0006060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tombstone-shaped proximal phalanges", "equivalent_identifiers": ["HP:0006060", "UMLS:C1862420"], "information_content": 100.0}
{"id": "HP:0006200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened distal phalanges", "equivalent_identifiers": ["HP:0006200", "UMLS:C1862421"], "information_content": 95.4}
{"id": "MONDO:0007905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lip, hamartomatous", "equivalent_identifiers": ["MONDO:0007905", "OMIM:151640", "UMLS:C1835395", "MESH:C563621", "medgen:331965"], "information_content": 100.0}
{"id": "MONDO:0014456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency", "equivalent_identifiers": ["MONDO:0014456", "DOID:0112134", "OMIM:616022", "orphanet:423384", "UMLS:C4014954", "NCIT:C176602", "medgen:863391"], "information_content": 100.0}
{"id": "MONDO:0859142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hiatt-Neu-Cooper neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859142", "OMIM:619311", "UMLS:C5543338", "medgen:1785187"], "information_content": 100.0}
{"id": "MONDO:0010030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sicca Syndrome", "equivalent_identifiers": ["MONDO:0010030", "DOID:12894", "OMIM:270150", "orphanet:289390", "EFO:0000699", "UMLS:C0086981", "UMLS:C1527336", "MESH:D012859", "MEDDRA:10018626", "MEDDRA:10040633", "MEDDRA:10040765", "MEDDRA:10040766", "MEDDRA:10040767", "MEDDRA:10042844", "MEDDRA:10042846", "MEDDRA:10059142", "NCIT:C26883", "NCIT:C70647", "SNOMEDCT:83901003", "medgen:282890", "icd11.foundation:899463360", "ICD10:M35.0", "ICD9:710.2"], "information_content": 86.3}
{"id": "MONDO:0012831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 13", "equivalent_identifiers": ["MONDO:0012831", "DOID:0110893", "OMIM:612244", "UMLS:C2677101", "MESH:C567384", "medgen:394202"], "information_content": 100.0}
{"id": "MONDO:0013594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 36", "equivalent_identifiers": ["MONDO:0013594", "DOID:0050983", "OMIM:614153", "orphanet:276198", "UMLS:C3472711", "NCIT:C148316", "SNOMEDCT:711158005", "medgen:483339", "icd11.foundation:1544814018"], "information_content": 100.0}
{"id": "MONDO:0800045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory syndrome, familial, Behcet-like 1", "equivalent_identifiers": ["MONDO:0800045", "DOID:0080944", "OMIM:616744", "orphanet:674762", "EFO:0020034", "UMLS:C4225218", "medgen:898541"], "information_content": 100.0}
{"id": "MONDO:0030354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy 3, digenic", "equivalent_identifiers": ["MONDO:0030354", "DOID:0060917", "OMIM:619477", "UMLS:C5561959", "medgen:1794169"], "information_content": 100.0}
{"id": "MONDO:0008763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alstrom syndrome", "equivalent_identifiers": ["MONDO:0008763", "DOID:0050473", "OMIM:203800", "orphanet:64", "UMLS:C0268425", "MESH:D056769", "MEDDRA:10068783", "MEDDRA:10068814", "NCIT:C84549", "SNOMEDCT:63702009", "medgen:78675"], "information_content": 100.0}
{"id": "MONDO:0007766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Morgagni-Stewart-Morel syndrome", "equivalent_identifiers": ["MONDO:0007766", "OMIM:144800", "orphanet:77296", "UMLS:C0020494", "UMLS:C4280524", "UMLS:C4280525", "UMLS:C4280526", "UMLS:C4280527", "MESH:D006957", "NCIT:C84772", "SNOMEDCT:82054006", "medgen:9367", "HP:0004438"], "information_content": 100.0}
{"id": "MONDO:0011025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cayman type cerebellar ataxia", "equivalent_identifiers": ["MONDO:0011025", "DOID:0060694", "OMIM:601238", "orphanet:94122", "UMLS:C1832585", "MESH:C563363", "SNOMEDCT:717332007", "medgen:331319", "ICD10:G11.0"], "information_content": 100.0}
{"id": "MONDO:0958199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic epilepsy of Lafora 1", "equivalent_identifiers": ["MONDO:0958199", "OMIM:254780", "UMLS:C5848203", "medgen:1844054"], "information_content": 100.0}
{"id": "HP:0100318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lafora bodies", "equivalent_identifiers": ["HP:0100318", "UMLS:C0333749", "SNOMEDCT:87554006"], "information_content": 100.0}
{"id": "MONDO:0010067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenoportal vascular anomalies", "equivalent_identifiers": ["MONDO:0010067", "OMIM:271500", "UMLS:C0340826", "MESH:C562761", "SNOMEDCT:234131004", "medgen:137945"], "information_content": 100.0}
{"id": "HP:0005201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous splenoportal venous system", "equivalent_identifiers": ["HP:0005201", "UMLS:C4025236"], "information_content": 100.0}
{"id": "HP:0007111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic hepatic encephalopathy", "equivalent_identifiers": ["HP:0007111", "UMLS:C4024937"], "information_content": 100.0}
{"id": "MONDO:0033558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation, immune dysregulation, and eosinophilia", "equivalent_identifiers": ["MONDO:0033558", "OMIM:618999", "UMLS:C5436572", "medgen:1750270"], "information_content": 100.0}
{"id": "MONDO:0005376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "membranous glomerulonephritis", "equivalent_identifiers": ["MONDO:0005376", "DOID:10976", "EFO:0004254", "UMLS:C0017665", "MESH:D015433", "MEDDRA:10018372", "MEDDRA:10027170", "NCIT:C34645", "SNOMEDCT:77182004", "medgen:42231", "ICD10:N03.2", "HP:0012578"], "information_content": 84.2}
{"id": "HP:0032021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophilic liver infiltration", "equivalent_identifiers": ["HP:0032021", "UMLS:C4732806", "UMLS:C4732919", "MEDDRA:10089967"], "information_content": 100.0}
{"id": "MONDO:0032894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy", "equivalent_identifiers": ["MONDO:0032894", "OMIM:618741", "UMLS:C5394027", "medgen:1717952"], "information_content": 100.0}
{"id": "MONDO:0015459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasopharyngeal carcinoma", "inheritance": "Polygenic inheritance", "equivalent_identifiers": ["MONDO:0015459", "DOID:9261", "OMIM:607107", "orphanet:150", "UMLS:C0153393", "UMLS:C0153394", "UMLS:C0153395", "UMLS:C0153396", "UMLS:C0238301", "UMLS:C1846758", "UMLS:C2931822", "MESH:D00007727", "MESH:D000077274", "MEDDRA:10025703", "MEDDRA:10026057", "MEDDRA:10026371", "MEDDRA:10026507", "MEDDRA:10028793", "NCIT:C194054", "NCIT:C194055", "NCIT:C194056", "NCIT:C194057", "NCIT:C3871", "SNOMEDCT:187693006", "SNOMEDCT:187700006", "SNOMEDCT:363398003", "SNOMEDCT:449248000", "SNOMEDCT:709031009", "medgen:419909", "icd11.foundation:1883313543", "ICD10:C11", "ICD10:C11.0", "ICD10:C11.1", "ICD10:C11.2", "ICD10:C11.3", "ICD9:147", "ICD9:147.0", "ICD9:147.1", "ICD9:147.2", "ICD9:147.3"], "information_content": 72.1}
{"id": "MONDO:0005375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasopharyngeal neoplasm", "equivalent_identifiers": ["MONDO:0005375", "EFO:0004252", "UMLS:C0027439", "MESH:D009303", "MEDDRA:10083253", "MEDDRA:10083257", "NCIT:C3257", "SNOMEDCT:126680004", "medgen:6526", "HP:0100630"], "information_content": 70.5}
{"id": "MONDO:0054831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 7", "equivalent_identifiers": ["MONDO:0054831", "DOID:0112369", "OMIM:618027", "UMLS:C4747954", "medgen:1648281"], "information_content": 100.0}
{"id": "MONDO:0010917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrocalcinosis 1", "equivalent_identifiers": ["MONDO:0010917", "OMIM:600668", "UMLS:C1833499", "MESH:C535938", "medgen:331527"], "information_content": 100.0}
{"id": "MONDO:0100489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Graves disease, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0100489", "OMIM:275000", "UMLS:C1848795", "medgen:341307"], "information_content": 100.0}
{"id": "MONDO:0859154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartsocas-Papas syndrome 2", "equivalent_identifiers": ["MONDO:0859154", "OMIM:619339", "UMLS:C5543445", "medgen:1778443"], "information_content": 100.0}
{"id": "MONDO:0014214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 8 with or without polydactyly", "equivalent_identifiers": ["MONDO:0014214", "DOID:0110094", "OMIM:615503", "UMLS:C3809691", "medgen:816021"], "information_content": 100.0}
{"id": "MONDO:0013168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1DD", "equivalent_identifiers": ["MONDO:0013168", "DOID:0110447", "OMIM:613172", "UMLS:C2750995", "MESH:C567725", "NCIT:C174435", "medgen:416441"], "information_content": 100.0}
{"id": "MONDO:0012845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 19", "equivalent_identifiers": ["MONDO:0012845", "DOID:0110890", "OMIM:612278", "UMLS:C2677079", "MESH:C567372", "medgen:393652"], "information_content": 100.0}
{"id": "MONDO:0014225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 5", "equivalent_identifiers": ["MONDO:0014225", "DOID:0111031", "OMIM:615517", "orphanet:247790", "UMLS:C1851316", "MESH:C565020", "SNOMEDCT:1230310007", "medgen:341982"], "information_content": 100.0}
{"id": "HP:0032385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating transferrin concentration", "equivalent_identifiers": ["HP:0032385", "UMLS:C5139308"], "information_content": 90.9}
{"id": "MONDO:0013821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 16", "equivalent_identifiers": ["MONDO:0013821", "DOID:0070046", "OMIM:614609", "UMLS:C3553249", "medgen:766163"], "information_content": 100.0}
{"id": "HP:0100368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short phalanx of the 5th toe", "equivalent_identifiers": ["HP:0100368", "UMLS:C4021012"], "information_content": 90.9}
{"id": "MONDO:0011992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 25", "equivalent_identifiers": ["MONDO:0011992", "DOID:0110776", "OMIM:608220", "orphanet:101005", "UMLS:C2936860", "MESH:C536861", "SNOMEDCT:732933009", "medgen:424835"], "information_content": 100.0}
{"id": "MONDO:0010606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hernia, anterior diaphragmatic", "equivalent_identifiers": ["MONDO:0010606", "OMIM:306950", "UMLS:C1844025", "MESH:C564413", "medgen:334881"], "information_content": 100.0}
{"id": "MONDO:0015009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 7", "equivalent_identifiers": ["MONDO:0015009", "OMIM:617300", "UMLS:C4310629", "medgen:934596"], "information_content": 100.0}
{"id": "MONDO:0016607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontohypophosphatasia", "equivalent_identifiers": ["MONDO:0016607", "DOID:0110913", "OMIM:146300", "orphanet:247685", "EFO:0021431", "UMLS:C0268413", "UMLS:C1840322", "MESH:C562647", "MESH:C564146", "NCIT:C131309", "SNOMEDCT:20756002", "SNOMEDCT:708672004", "medgen:326709"], "information_content": 100.0}
{"id": "MONDO:0016605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perinatal lethal hypophosphatasia", "equivalent_identifiers": ["MONDO:0016605", "DOID:0110914", "OMIM:241500", "orphanet:247623", "EFO:0021797", "UMLS:C0268412", "UMLS:C2673477", "UMLS:C5700114", "MESH:C562646", "MESH:C567107", "SNOMEDCT:55236002", "medgen:392928", "HP:0003239"], "information_content": 100.0}
{"id": "MONDO:0012725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoprotein glomerulopathy", "equivalent_identifiers": ["MONDO:0012725", "OMIM:611771", "orphanet:329481", "UMLS:C2673196", "MESH:C567089", "SNOMEDCT:446923008", "medgen:382034", "icd11.foundation:69778702"], "information_content": 100.0}
{"id": "MONDO:0019722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerulopathy", "equivalent_identifiers": ["MONDO:0019722", "orphanet:93548", "EFO:1002049", "UMLS:C0268731", "MEDDRA:10051920", "NCIT:C120887", "SNOMEDCT:197679002", "HP:0100820"], "information_content": 72.6}
{"id": "MONDO:0009454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 1", "equivalent_identifiers": ["MONDO:0009454", "DOID:0090008", "OMIM:242860", "UMLS:C4551557", "NCIT:C156430", "medgen:1636193"], "information_content": 100.0}
{"id": "MONDO:0054582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Townes-Brocks syndrome 2", "equivalent_identifiers": ["MONDO:0054582", "OMIM:617466", "UMLS:C4479534", "medgen:1381939"], "information_content": 100.0}
{"id": "MONDO:0014107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 21 with or without anosmia", "equivalent_identifiers": ["MONDO:0014107", "DOID:0090093", "OMIM:615271", "UMLS:C3808986", "medgen:815316"], "information_content": 100.0}
{"id": "MONDO:0014212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "equivalent_identifiers": ["MONDO:0014212", "DOID:0111166", "OMIM:615501", "orphanet:308400", "UMLS:C1854990", "MESH:C565374", "SNOMEDCT:1003387003", "medgen:340761"], "information_content": 100.0}
{"id": "HP:0500181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertaurinemia", "equivalent_identifiers": ["HP:0500181", "UMLS:C5139566"], "information_content": 95.4}
{"id": "MONDO:0007202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharoptosis-myopia-ectopia lentis syndrome", "equivalent_identifiers": ["MONDO:0007202", "OMIM:110150", "orphanet:1259", "UMLS:C1862259", "UMLS:C4303549", "MESH:C536236", "SNOMEDCT:717915004", "medgen:400006"], "information_content": 100.0}
{"id": "MONDO:0012195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis-severe scoliosis syndrome", "equivalent_identifiers": ["MONDO:0012195", "DOID:0111610", "OMIM:609128", "orphanet:65720", "UMLS:C1836756", "MESH:C563791", "SNOMEDCT:715575001", "medgen:373169"], "information_content": 100.0}
{"id": "HP:0010326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of the 2nd toe", "equivalent_identifiers": ["HP:0010326", "UMLS:C4021297"], "information_content": 89.4}
{"id": "HP:0100500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular deviation of toes", "equivalent_identifiers": ["HP:0100500", "UMLS:C4020970"], "information_content": 88.2}
{"id": "MONDO:0011998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant slowed nerve conduction velocity", "equivalent_identifiers": ["MONDO:0011998", "OMIM:608236", "orphanet:140481", "UMLS:C1842357", "MESH:C564269", "SNOMEDCT:764854006", "medgen:330829"], "information_content": 100.0}
{"id": "MONDO:0010338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked distal spinal muscular atrophy type 3", "equivalent_identifiers": ["MONDO:0010338", "DOID:0111196", "OMIM:300489", "orphanet:139557", "UMLS:C1845359", "MESH:C564506", "SNOMEDCT:766764008", "medgen:335168"], "information_content": 100.0}
{"id": "MONDO:0008038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-pancytopenia syndrome", "equivalent_identifiers": ["MONDO:0008038", "OMIM:159550", "orphanet:2585", "UMLS:C1327919", "MESH:C563233", "NCIT:C176909", "NCIT:C200422", "SNOMEDCT:768556005", "medgen:230896"], "information_content": 92.8}
{"id": "MONDO:0018871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute myelomonocytic leukemia M4", "equivalent_identifiers": ["MONDO:0018871", "DOID:0081082", "orphanet:517", "EFO:0000223", "UMLS:C0023479", "MESH:D015479", "MEDDRA:10000890", "MEDDRA:10054297", "NCIT:C7463", "SNOMEDCT:110005000", "SNOMEDCT:277601005", "SNOMEDCT:30962008", "medgen:9732", "icd11.foundation:1613358778", "ICD10:C92.5", "HP:0004820"], "information_content": 82.6}
{"id": "MONDO:0003789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary papillary renal cell carcinoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0003789", "DOID:6163", "OMIM:605074", "orphanet:47044", "UMLS:C0879257", "UMLS:C1336839", "MEDDRA:10067943", "NCIT:C27886", "NCIT:C9222", "SNOMEDCT:715561008", "medgen:163907", "HP:0011797"], "information_content": 90.9}
{"id": "MONDO:0007253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cancer, familial, with in vitro Radioresistance", "equivalent_identifiers": ["MONDO:0007253", "OMIM:114450", "UMLS:C1861915", "MESH:C566179", "medgen:396248"], "information_content": 100.0}
{"id": "MONDO:0014103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 18 with or without anosmia", "equivalent_identifiers": ["MONDO:0014103", "DOID:0090076", "OMIM:615267", "UMLS:C3808975", "medgen:815305"], "information_content": 100.0}
{"id": "MONDO:0008102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sick sinus syndrome 2, autosomal dominant", "equivalent_identifiers": ["MONDO:0008102", "OMIM:163800", "UMLS:C1834144", "MESH:C563513", "medgen:320273"], "information_content": 100.0}
{"id": "MONDO:0007604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "femoral-facial syndrome", "equivalent_identifiers": ["MONDO:0007604", "OMIM:134780", "orphanet:1988", "UMLS:C0265263", "MESH:C537916", "MEDDRA:10083944", "SNOMEDCT:13280000", "medgen:120523", "icd11.foundation:505576809"], "information_content": 100.0}
{"id": "HP:0004686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short third metatarsal", "equivalent_identifiers": ["HP:0004686", "UMLS:C4021650"], "information_content": 100.0}
{"id": "HP:0008465", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent vertebra", "equivalent_identifiers": ["HP:0008465", "UMLS:C0158776", "MEDDRA:10000329", "MEDDRA:10010320", "SNOMEDCT:1003563001", "SNOMEDCT:15843004"], "information_content": 84.8}
{"id": "MONDO:0013327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hyperoxaluria type 3", "equivalent_identifiers": ["MONDO:0013327", "DOID:0111672", "OMIM:613616", "orphanet:93600", "UMLS:C3150878", "NCIT:C123214", "SNOMEDCT:734990008", "medgen:462228"], "information_content": 100.0}
{"id": "HP:6001009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urine 4-hydroxy-2-oxoglutarate level", "equivalent_identifiers": ["HP:6001009", "UMLS:C5970349"], "information_content": 100.0}
{"id": "MONDO:0800044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of deglycosylation 1", "equivalent_identifiers": ["MONDO:0800044", "DOID:0060728", "OMIM:615273", "orphanet:404454", "NCIT:C126746", "SNOMEDCT:768846004", "ICD10:E77.8"], "information_content": 100.0}
{"id": "HP:0025460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High myoinositol in brain by MRS", "equivalent_identifiers": ["HP:0025460", "UMLS:C4476792"], "information_content": 100.0}
{"id": "HP:0030978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF/serum albumin ratio", "equivalent_identifiers": ["HP:0030978", "UMLS:C4476891"], "information_content": 100.0}
{"id": "HP:0025458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF albumin concentration", "equivalent_identifiers": ["HP:0025458", "UMLS:C1168004", "MEDDRA:10059979"], "information_content": 100.0}
{"id": "HP:0030980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced brain glutamine level by MRS", "equivalent_identifiers": ["HP:0030980", "UMLS:C4476893"], "information_content": 100.0}
{"id": "HP:0030906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Suck reflex", "equivalent_identifiers": ["HP:0030906"], "information_content": 100.0}
{"id": "HP:0031162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired oropharyngeal swallow response", "equivalent_identifiers": ["HP:0031162", "UMLS:C4477013"], "information_content": 100.0}
{"id": "MONDO:0011889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2I", "equivalent_identifiers": ["MONDO:0011889", "DOID:0110158", "OMIM:607677", "orphanet:99942", "UMLS:C3888087", "MESH:C535416", "SNOMEDCT:717013009", "medgen:854756", "icd11.foundation:1858507973"], "information_content": 100.0}
{"id": "MONDO:0010822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome 1", "equivalent_identifiers": ["MONDO:0010822", "DOID:0110716", "OMIM:600118", "UMLS:C1838625", "MESH:C536681", "medgen:333142"], "information_content": 100.0}
{"id": "MONDO:0012726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", "equivalent_identifiers": ["MONDO:0012726", "OMIM:611773", "orphanet:73229", "UMLS:C2673195", "MESH:C567088", "SNOMEDCT:702428000", "medgen:382033"], "information_content": 100.0}
{"id": "HP:0005115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supraventricular arrhythmia", "equivalent_identifiers": ["HP:0005115", "UMLS:C0428974", "MEDDRA:10003130", "MEDDRA:10042599", "MEDDRA:10042600", "SNOMEDCT:72654001"], "information_content": 77.1}
{"id": "MONDO:0054832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, posterior polymorphous, 4", "equivalent_identifiers": ["MONDO:0054832", "DOID:0080669", "OMIM:618031", "UMLS:C4747961", "medgen:1648359"], "information_content": 100.0}
{"id": "MONDO:0015011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 11", "equivalent_identifiers": ["MONDO:0015011", "DOID:0111436", "OMIM:617302", "UMLS:C4310628", "medgen:934595"], "information_content": 100.0}
{"id": "HP:0011196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with focal sharp waves", "equivalent_identifiers": ["HP:0011196", "UMLS:C4023478"], "information_content": 88.2}
{"id": "MONDO:0014223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 19", "equivalent_identifiers": ["MONDO:0014223", "DOID:0060210", "OMIM:615515", "UMLS:C3715155", "medgen:811607"], "information_content": 100.0}
{"id": "MONDO:0014464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive encephalopathy with leukodystrophy due to DECR deficiency", "equivalent_identifiers": ["MONDO:0014464", "OMIM:616034", "orphanet:431361", "UMLS:C1857252", "MESH:C565624", "SNOMEDCT:444944006", "medgen:346552"], "information_content": 100.0}
{"id": "HP:0034919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced liver 2,4-dienoyl-CoA reductase activity", "equivalent_identifiers": ["HP:0034919", "UMLS:C5826768"], "information_content": 100.0}
{"id": "HP:0034918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle 2,4-dienoyl-CoA reductase activity", "equivalent_identifiers": ["HP:0034918", "UMLS:C5826767"], "information_content": 100.0}
{"id": "HP:6000478", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration", "equivalent_identifiers": ["HP:6000478", "UMLS:C5937246"], "information_content": 100.0}
{"id": "MONDO:0018663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "regressive spondylometaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0018663", "OMIM:618019", "orphanet:448267", "UMLS:C4747922", "SNOMEDCT:1237412001", "medgen:1648288"], "information_content": 100.0}
{"id": "MONDO:0012498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness autosomal dominant 1", "equivalent_identifiers": ["MONDO:0012498", "DOID:0110862", "OMIM:610445", "UMLS:C1864869", "MESH:C566474", "medgen:355852"], "information_content": 100.0}
{"id": "MONDO:0013831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus 6", "equivalent_identifiers": ["MONDO:0013831", "OMIM:614623", "UMLS:C3553306", "medgen:766220"], "information_content": 100.0}
{"id": "MONDO:0021021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniodiaphyseal dysplasia, autosomal dominant", "equivalent_identifiers": ["MONDO:0021021", "DOID:0080807", "OMIM:122860", "UMLS:C2675746", "MESH:C567275", "medgen:382678"], "information_content": 100.0}
{"id": "MONDO:0011444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duane retraction syndrome 2", "equivalent_identifiers": ["MONDO:0011444", "DOID:0061028", "OMIM:604356", "UMLS:C0751083", "UMLS:C1263872", "SNOMEDCT:128083007", "medgen:196721"], "information_content": 100.0}
{"id": "MONDO:0030341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive", "equivalent_identifiers": ["MONDO:0030341", "OMIM:619461", "UMLS:C5561947", "medgen:1794157"], "information_content": 100.0}
{"id": "MONDO:0009107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diastrophic dysplasia", "equivalent_identifiers": ["MONDO:0009107", "DOID:14687", "OMIM:222600", "orphanet:628", "UMLS:C0220726", "UMLS:C1857255", "MESH:C536170", "MESH:C565626", "MEDDRA:10081228", "NCIT:C156311", "SNOMEDCT:58561002", "medgen:113103", "icd11.foundation:1681550532", "ICD10:Q77.5"], "information_content": 100.0}
{"id": "HP:0008608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertrophic auricular cartilage", "equivalent_identifiers": ["HP:0008608", "UMLS:C1857263"], "information_content": 100.0}
{"id": "HP:0010723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystic lesions of the pinnae", "equivalent_identifiers": ["HP:0010723", "UMLS:C4023720"], "information_content": 100.0}
{"id": "MONDO:0008167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermoid cyst of ovary", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008167", "DOID:5117", "OMIM:166950", "UMLS:C0237020", "MESH:C562731", "MEDDRA:10012524", "NCIT:C3856", "medgen:68637", "icd11.foundation:1067463359", "HP:0025274"], "information_content": 100.0}
{"id": "MONDO:0005602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian teratoma", "equivalent_identifiers": ["MONDO:0005602", "DOID:5567", "EFO:0006463", "UMLS:C0280131", "MEDDRA:10073265", "NCIT:C8110", "SNOMEDCT:716077006", "medgen:76072", "icd11.foundation:1752240825", "HP:0012226"], "information_content": 75.0}
{"id": "MONDO:0859178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, impaired speech, and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859178", "OMIM:619475", "UMLS:C5561957", "medgen:1794167"], "information_content": 100.0}
{"id": "HP:0025386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bitemporal hollowing", "equivalent_identifiers": ["HP:0025386", "UMLS:C1855488"], "information_content": 100.0}
{"id": "HP:0100767", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal placenta morphology", "equivalent_identifiers": ["HP:0100767", "UMLS:C0266746", "UMLS:C1306893", "SNOMEDCT:169957005", "SNOMEDCT:33552005"], "information_content": 69.2}
{"id": "HP:0030185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystonia tremor", "equivalent_identifiers": ["HP:0030185", "UMLS:C4022594", "UMLS:C4280303"], "information_content": 100.0}
{"id": "HP:0032408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Breast mass", "equivalent_identifiers": ["HP:0032408", "NCIT:C3197", "UMLS:C0024103", "MEDDRA:10006264", "MEDDRA:10006268", "MEDDRA:10006272", "MEDDRA:10006293", "MEDDRA:10025026", "MEDDRA:10048755", "MEDDRA:10062953", "SNOMEDCT:89164003"], "information_content": 70.0}
{"id": "HP:0008760", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Violent behavior", "equivalent_identifiers": ["HP:0008760"], "information_content": 100.0}
{"id": "HP:0009884", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapered distal phalanges of finger", "equivalent_identifiers": ["HP:0009884", "UMLS:C1969237"], "information_content": 95.4}
{"id": "HP:0000152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of head or neck", "equivalent_identifiers": ["HP:0000152", "UMLS:C4021817"], "information_content": 42.1}
{"id": "MONDO:0012919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus 20", "equivalent_identifiers": ["MONDO:0012919", "DOID:0110757", "OMIM:612520", "UMLS:C2675866", "MESH:C567286", "medgen:382706"], "information_content": 100.0}
{"id": "MONDO:0013162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "equivalent_identifiers": ["MONDO:0013162", "DOID:0110298", "OMIM:613158", "orphanet:206559", "UMLS:C3150418", "SNOMEDCT:726617002", "medgen:461768"], "information_content": 100.0}
{"id": "MONDO:0020745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "equivalent_identifiers": ["MONDO:0020745", "OMIM:115000", "UMLS:C5542154", "medgen:1781114"], "information_content": 100.0}
{"id": "HP:0006696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polymorphic and polytopic ventricular extrasystoles", "equivalent_identifiers": ["HP:0006696", "UMLS:C4024998"], "information_content": 100.0}
{"id": "MONDO:0014232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis 5, susceptibility to", "equivalent_identifiers": ["MONDO:0014232", "OMIM:615529", "UMLS:C3809819", "medgen:816149"], "information_content": 100.0}
{"id": "MONDO:0030266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 80 with or without congenital cardiomyopathy", "equivalent_identifiers": ["MONDO:0030266", "DOID:0061051", "OMIM:619313", "UMLS:C5543344", "medgen:1786417"], "information_content": 100.0}
{"id": "MONDO:0008012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monophalangy of great toe", "equivalent_identifiers": ["MONDO:0008012", "OMIM:158100", "UMLS:C1834753", "MESH:C563570", "medgen:320429"], "information_content": 100.0}
{"id": "MONDO:0026730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basilicata-Akhtar syndrome", "equivalent_identifiers": ["MONDO:0026730", "DOID:0111838", "OMIM:301032", "UMLS:C5231394", "medgen:1684820"], "information_content": 100.0}
{"id": "OMIM:120050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COXSACKIEVIRUS B3 SUSCEPTIBILITY", "equivalent_identifiers": ["OMIM:120050", "UMLS:C1861511"]}
{"id": "MONDO:0011613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive early-onset Parkinson disease 6", "equivalent_identifiers": ["MONDO:0011613", "DOID:0060369", "OMIM:605909", "UMLS:C1853833", "UMLS:C1970035", "MESH:C565276", "NCIT:C184990", "medgen:342982"], "information_content": 100.0}
{"id": "MONDO:0010736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split hand-foot malformation 2", "equivalent_identifiers": ["MONDO:0010736", "DOID:0090027", "OMIM:313350", "UMLS:C1839258", "MESH:C564056", "medgen:326848"], "information_content": 100.0}
{"id": "MONDO:0009554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3MC syndrome 3", "equivalent_identifiers": ["MONDO:0009554", "DOID:0060577", "OMIM:248340", "UMLS:C0796032", "MESH:C535704", "medgen:208657"], "information_content": 100.0}
{"id": "HP:0030025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Auricular pit", "equivalent_identifiers": ["HP:0030025", "UMLS:C4022672"], "information_content": 100.0}
{"id": "MONDO:0976232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome 7", "equivalent_identifiers": ["MONDO:0976232", "DOID:0061073", "OMIM:621101"], "information_content": 100.0}
{"id": "MONDO:0033537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 47", "equivalent_identifiers": ["MONDO:0033537", "DOID:0112114", "OMIM:618958", "UMLS:C5436476", "medgen:1775535"], "information_content": 100.0}
{"id": "HP:0010248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the distal phalanges of the hand", "equivalent_identifiers": ["HP:0010248", "UMLS:C4023951"], "information_content": 88.2}
{"id": "MONDO:0014857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "equivalent_identifiers": ["MONDO:0014857", "OMIM:616975", "orphanet:494344", "EFO:0009645", "UMLS:C4310772", "medgen:934739"], "information_content": 100.0}
{"id": "HP:0011240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent stem of antihelix", "equivalent_identifiers": ["HP:0011240", "UMLS:C4020910"], "information_content": 100.0}
{"id": "MONDO:0032913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 7", "equivalent_identifiers": ["MONDO:0032913", "OMIM:618780", "UMLS:C5394062", "medgen:1714491"], "information_content": 100.0}
{"id": "MONDO:0007621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Floating-Harbor syndrome", "equivalent_identifiers": ["MONDO:0007621", "DOID:0111358", "OMIM:136140", "orphanet:2044", "UMLS:C0729582", "MESH:C537062", "MEDDRA:10079943", "NCIT:C175241", "SNOMEDCT:312214005", "medgen:152667", "icd11.foundation:2101730645"], "information_content": 100.0}
{"id": "MONDO:0019807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesocardia", "equivalent_identifiers": ["MONDO:0019807", "orphanet:95443", "UMLS:C0265865", "SNOMEDCT:16567006", "medgen:488817", "icd11.foundation:1251061251", "HP:0011599"], "information_content": 100.0}
{"id": "MONDO:0013441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 4", "equivalent_identifiers": ["MONDO:0013441", "DOID:0110088", "OMIM:613819", "UMLS:C3151185", "medgen:462535"], "information_content": 100.0}
{"id": "MONDO:0009720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keipert syndrome", "equivalent_identifiers": ["MONDO:0009720", "DOID:0111842", "OMIM:301026", "orphanet:2662", "UMLS:C1850627", "MESH:C538337", "NCIT:C186306", "SNOMEDCT:763774001", "medgen:338088"], "information_content": 100.0}
{"id": "MONDO:0011185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thiel-Behnke corneal dystrophy", "equivalent_identifiers": ["MONDO:0011185", "DOID:0060455", "OMIM:602082", "orphanet:98960", "UMLS:C1562894", "MESH:C535942", "SNOMEDCT:417065002", "medgen:287070", "icd11.foundation:2082568100"], "information_content": 100.0}
{"id": "MONDO:0007379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meesmann corneal dystrophy", "equivalent_identifiers": ["MONDO:0007379", "DOID:0060451", "OMIM.PS:122100", "orphanet:98954", "UMLS:C0339277", "MESH:D053559", "MEDDRA:10023254", "NCIT:C84795", "SNOMEDCT:1674008", "medgen:83283", "ICD10:H18.52", "ICD9:371.51", "HP:0007755"], "information_content": 92.8}
{"id": "MONDO:0012855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 8", "equivalent_identifiers": ["MONDO:0012855", "DOID:0111003", "OMIM:612291", "UMLS:C2676771", "MESH:C567358", "medgen:436772"], "information_content": 100.0}
{"id": "MONDO:0013911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 9 with or without anosmia", "equivalent_identifiers": ["MONDO:0013911", "DOID:0090085", "OMIM:614838", "UMLS:C3553842", "medgen:766756"], "information_content": 100.0}
{"id": "MONDO:0957819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 12", "equivalent_identifiers": ["MONDO:0957819", "OMIM:620545", "UMLS:C5882704", "medgen:1847896"], "information_content": 100.0}
{"id": "HP:0031006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acroparesthesia", "equivalent_identifiers": ["HP:0031006", "UMLS:C0234221", "MEDDRA:10000604", "MEDDRA:10062860", "SNOMEDCT:79256006"], "information_content": 95.4}
{"id": "HP:0200160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of maxillary incisor", "equivalent_identifiers": ["HP:0200160", "UMLS:C4021877", "UMLS:C4280278", "UMLS:C4280279"], "information_content": 87.2}
{"id": "MONDO:0010296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 61", "equivalent_identifiers": ["MONDO:0010296", "DOID:0111999", "OMIM:300310", "UMLS:C1845903", "MESH:C538057", "medgen:337462"], "information_content": 100.0}
{"id": "HP:0032138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating IgG4 concentration", "equivalent_identifiers": ["HP:0032138", "UMLS:C5139156"], "information_content": 89.4}
{"id": "MONDO:0008908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MGAT2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0008908", "DOID:0070253", "OMIM:212066", "orphanet:79329", "UMLS:C2931008", "MESH:C535752", "SNOMEDCT:277894008", "SNOMEDCT:724142005", "medgen:443956"], "information_content": 100.0}
{"id": "HP:0007466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midfrontal capillary hemangioma", "equivalent_identifiers": ["HP:0007466", "UMLS:C1859339"], "information_content": 100.0}
{"id": "MONDO:0014846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 23", "equivalent_identifiers": ["MONDO:0014846", "DOID:0111613", "OMIM:616949", "orphanet:404493", "UMLS:C4750914", "SNOMEDCT:773498006", "medgen:1667331"], "information_content": 100.0}
{"id": "MONDO:0010335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cone-rod dystrophy 3", "equivalent_identifiers": ["MONDO:0010335", "DOID:0111007", "OMIM:300476", "UMLS:C1845407", "MESH:C564507", "medgen:336932"], "information_content": 100.0}
{"id": "MONDO:0007838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jacobsen syndrome", "equivalent_identifiers": ["MONDO:0007838", "DOID:0111723", "OMIM:147791", "orphanet:2308", "UMLS:C0795841", "MESH:D054868", "MEDDRA:10089842", "NCIT:C75457", "SNOMEDCT:715438008", "medgen:162878", "icd11.foundation:27788176"], "information_content": 100.0}
{"id": "MONDO:0013613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 16", "equivalent_identifiers": ["MONDO:0013613", "DOID:0110118", "OMIM:614186", "UMLS:C3280062", "medgen:481692"], "information_content": 100.0}
{"id": "MONDO:0014125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symphalangism, proximal, 1B", "equivalent_identifiers": ["MONDO:0014125", "DOID:0080788", "OMIM:615298", "UMLS:C3809104", "medgen:815434"], "information_content": 100.0}
{"id": "MONDO:0008254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet disorder, undefined", "equivalent_identifiers": ["MONDO:0008254", "OMIM:173420", "UMLS:C1868258", "MESH:C566799", "medgen:401405"], "information_content": 100.0}
{"id": "MONDO:0002334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hematopoietic and lymphoid system neoplasm", "equivalent_identifiers": ["MONDO:0002334", "DOID:2531", "UMLS:C0376545", "UMLS:C1512393", "MESH:D019337", "MEDDRA:10066476", "MEDDRA:10066481", "MEDDRA:10086698", "MEDDRA:10086808", "NCIT:C35813", "SNOMEDCT:129154003", "medgen:268180", "HP:0004377"], "information_content": 47.4}
{"id": "MONDO:0011454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome", "equivalent_identifiers": ["MONDO:0011454", "OMIM:604381", "orphanet:228190", "UMLS:C1858420", "MESH:C565782", "medgen:346902"], "information_content": 100.0}
{"id": "HP:0005295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudocoarctation of the aorta", "equivalent_identifiers": ["HP:0005295", "UMLS:C0345088", "MEDDRA:10090126", "SNOMEDCT:70602002"], "information_content": 100.0}
{"id": "MONDO:0013445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C9 Deficiency", "equivalent_identifiers": ["MONDO:0013445", "DOID:0060303", "OMIM:613825", "UMLS:C3151189", "MESH:C565165", "medgen:462539"], "information_content": 100.0}
{"id": "HP:0012308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating complement C9 concentration", "equivalent_identifiers": ["HP:0012308", "UMLS:C4021093"], "information_content": 100.0}
{"id": "MONDO:0700288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy", "equivalent_identifiers": ["MONDO:0700288", "OMIM:621129"], "information_content": 100.0}
{"id": "MONDO:0011923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoarthritis susceptibility 3", "equivalent_identifiers": ["MONDO:0011923", "OMIM:607850", "UMLS:C2675609", "medgen:382650"], "information_content": 100.0}
{"id": "MONDO:0020706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heberden's node", "equivalent_identifiers": ["MONDO:0020706", "UMLS:C0409957", "NCIT:C34671", "SNOMEDCT:239869009", "medgen:6761", "HP:0006233"], "information_content": 100.0}
{"id": "HP:0006226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoarthritis of the first carpometacarpal joint", "equivalent_identifiers": ["HP:0006226", "UMLS:C0409956", "SNOMEDCT:37895003"], "information_content": 100.0}
{"id": "MONDO:0033543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod synaptic disorder syndrome, congenital nonprogressive", "equivalent_identifiers": ["MONDO:0033543", "OMIM:618970", "UMLS:C5436505", "medgen:1773574"], "information_content": 100.0}
{"id": "MONDO:0011896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 11, autosomal dominant, susceptibility to", "equivalent_identifiers": ["MONDO:0011896", "OMIM:607688", "UMLS:C1843211", "UMLS:C4083045", "MESH:C564345", "medgen:896658"], "information_content": 100.0}
{"id": "MONDO:0859373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 78", "equivalent_identifiers": ["MONDO:0859373", "OMIM:620237", "UMLS:C5830269", "medgen:1840905"], "information_content": 100.0}
{"id": "MONDO:0007372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CORNEA PLANA 1", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0007372", "OMIM:121400", "UMLS:C1852557", "MESH:C565158", "medgen:343837"], "information_content": 100.0}
{"id": "MONDO:0007995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with cataract 1", "equivalent_identifiers": ["MONDO:0007995", "OMIM:156850", "UMLS:C1834919", "MESH:C563582", "medgen:320475"], "information_content": 100.0}
{"id": "MONDO:0957825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 121", "equivalent_identifiers": ["MONDO:0957825", "OMIM:620551", "UMLS:C5882709", "medgen:1844128"], "information_content": 100.0}
{"id": "MONDO:0008192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paragangliomas 1", "equivalent_identifiers": ["MONDO:0008192", "OMIM:168000", "EFO:0022485", "UMLS:C0030422", "UMLS:C1306262", "UMLS:C3494181", "MESH:D010236", "MEDDRA:10051227", "NCIT:C3309", "SNOMEDCT:302834008", "SNOMEDCT:51747000", "medgen:488134"], "information_content": 75.5}
{"id": "MONDO:0004974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal gland pheochromocytoma", "equivalent_identifiers": ["MONDO:0004974", "DOID:0050892", "EFO:0000239", "UMLS:C4551683", "MEDDRA:10034800", "MEDDRA:10034876", "NCIT:C3326", "SNOMEDCT:302835009", "SNOMEDCT:85583005", "medgen:1636437", "HP:0006748"], "information_content": 78.3}
{"id": "HP:0002640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertension associated with pheochromocytoma", "equivalent_identifiers": ["HP:0002640", "UMLS:C4025693"], "information_content": 95.4}
{"id": "MONDO:0000550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extra-adrenal sympathetic paraganglioma", "equivalent_identifiers": ["MONDO:0000550", "DOID:0050936", "EFO:0000489", "UMLS:C1257877", "NCIT:C48576", "medgen:263453", "HP:0006737"], "information_content": 84.8}
{"id": "HP:0002331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent paroxysmal headache", "equivalent_identifiers": ["HP:0002331", "UMLS:C1854337", "UMLS:C4293708"], "information_content": 100.0}
{"id": "HP:0100635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carotid paraganglioma", "equivalent_identifiers": ["HP:0100635", "UMLS:C4022005"], "information_content": 100.0}
{"id": "HP:0000740", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic paroxysmal anxiety", "equivalent_identifiers": ["HP:0000740", "UMLS:C1387805", "UMLS:C1854339"], "information_content": 100.0}
{"id": "MONDO:0006239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "head and neck paraganglioma", "equivalent_identifiers": ["MONDO:0006239", "EFO:1000288", "UMLS:C1333944", "NCIT:C5327", "medgen:232588", "HP:0002864"], "information_content": 83.1}
{"id": "MONDO:0011194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 5", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0011194", "DOID:0110037", "OMIM:602096", "UMLS:C1865868", "MESH:C566578", "medgen:356103"], "information_content": 100.0}
{"id": "MONDO:0012849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 9", "equivalent_identifiers": ["MONDO:0012849", "DOID:0111004", "OMIM:612285", "UMLS:C2676788", "UMLS:C3280898", "MESH:C567364", "NCIT:C181002", "medgen:382940"], "information_content": 100.0}
{"id": "MONDO:0010725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked retinoschisis", "equivalent_identifiers": ["MONDO:0010725", "DOID:0060763", "OMIM:312700", "orphanet:792", "UMLS:C0271091", "UMLS:C3714753", "NCIT:C75483", "SNOMEDCT:86923008", "medgen:811458", "icd11.foundation:2074506458", "ICD10:Q14.1"], "information_content": 100.0}
{"id": "MONDO:0001454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blessig's cysts", "equivalent_identifiers": ["MONDO:0001454", "DOID:12164", "UMLS:C0154855", "UMLS:C1839362", "MEDDRA:10027537", "SNOMEDCT:37075008", "medgen:509686", "ICD10:H35.42", "ICD9:362.62", "HP:0007667"], "information_content": 100.0}
{"id": "MONDO:0009589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesomelic dwarfism-cleft palate-camptodactyly syndrome", "equivalent_identifiers": ["MONDO:0009589", "OMIM:249710", "orphanet:2631", "UMLS:C1855273", "UMLS:C2930871", "MESH:C535294", "MESH:C565404", "SNOMEDCT:715471007", "medgen:340833"], "information_content": 100.0}
{"id": "MONDO:0007940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0007940", "OMIM:154276", "UMLS:C2930982", "MESH:C535696", "medgen:418956"], "information_content": 100.0}
{"id": "MONDO:0010078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloperipheral dysplasia", "equivalent_identifiers": ["MONDO:0010078", "DOID:0112195", "OMIM:271700", "orphanet:1856", "UMLS:C0796173", "MESH:C535799", "NCIT:C135088", "SNOMEDCT:702339001", "medgen:163223"], "information_content": 100.0}
{"id": "HP:0004180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0004180", "UMLS:C4021681"], "information_content": 100.0}
{"id": "HP:0012106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhizomelic leg shortening", "equivalent_identifiers": ["HP:0012106", "UMLS:C4023039"], "information_content": 100.0}
{"id": "HP:0006110", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all middle phalanges of the fingers", "equivalent_identifiers": ["HP:0006110", "UMLS:C1856912"], "information_content": 100.0}
{"id": "HP:0009566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009566", "UMLS:C4021438"], "information_content": 100.0}
{"id": "HP:0005068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent styloid process of ulna", "equivalent_identifiers": ["HP:0005068", "UMLS:C4025254"], "information_content": 100.0}
{"id": "HP:0009290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short distal phalanx of the 4th finger", "equivalent_identifiers": ["HP:0009290", "UMLS:C4021499"], "information_content": 100.0}
{"id": "HP:0006144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all proximal phalanges of the fingers", "equivalent_identifiers": ["HP:0006144", "UMLS:C4025089"], "information_content": 100.0}
{"id": "MONDO:0011402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital cataracts-facial dysmorphism-neuropathy syndrome", "equivalent_identifiers": ["MONDO:0011402", "OMIM:604168", "orphanet:48431", "UMLS:C1858726", "MESH:C565822", "SNOMEDCT:702433001", "medgen:346973"], "information_content": 100.0}
{"id": "HP:0010620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malar prominence", "equivalent_identifiers": ["HP:0010620", "UMLS:C1858732", "UMLS:C4280374", "MESH:C000721290"], "information_content": 100.0}
{"id": "MONDO:0014028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis type 5D", "equivalent_identifiers": ["MONDO:0014028", "DOID:0111594", "OMIM:615065", "orphanet:329457", "UMLS:C3554415", "SNOMEDCT:773396009", "medgen:767329"], "information_content": 100.0}
{"id": "MONDO:0010455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia", "equivalent_identifiers": ["MONDO:0010455", "DOID:0080319", "OMIM:300853", "orphanet:317476", "UMLS:C3275445", "NCIT:C126336", "SNOMEDCT:711481001", "medgen:477076"], "information_content": 100.0}
{"id": "HP:0031268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CD69 upregulation upon TCR activation", "equivalent_identifiers": ["HP:0031268", "UMLS:C4531236"], "information_content": 100.0}
{"id": "HP:0032204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic active Epstein-Barr virus infection", "equivalent_identifiers": ["HP:0032204", "UMLS:C5139190", "MEDDRA:10082848"], "information_content": 100.0}
{"id": "MONDO:0044701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "equivalent_identifiers": ["MONDO:0044701", "DOID:0070474", "OMIM:617672", "orphanet:500180", "UMLS:C4540086", "UMLS:C5567227", "SNOMEDCT:1167373005", "medgen:1626007"], "information_content": 100.0}
{"id": "MONDO:0032805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopigmentation, organomegaly, and delayed myelination and development", "equivalent_identifiers": ["MONDO:0032805", "OMIM:618541", "UMLS:C5203300", "medgen:1684826"], "information_content": 100.0}
{"id": "MONDO:0030822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypodysplasia/aplasia 4", "equivalent_identifiers": ["MONDO:0030822", "OMIM:619887", "UMLS:C5676993", "medgen:1808595"], "information_content": 100.0}
{"id": "MONDO:0010142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism due to TSH receptor mutations", "equivalent_identifiers": ["MONDO:0010142", "DOID:0070126", "OMIM:275200", "orphanet:90673", "UMLS:C3493776", "MESH:C576976", "SNOMEDCT:1230272009", "medgen:487729"], "information_content": 100.0}
{"id": "MONDO:0014922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 7", "equivalent_identifiers": ["MONDO:0014922", "DOID:0080098", "OMIM:617114", "UMLS:C4310711", "medgen:934678"], "information_content": 100.0}
{"id": "MONDO:0020681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "equivalent_identifiers": ["MONDO:0020681", "DOID:0080736", "OMIM:601776", "NCIT:C168975"], "information_content": 100.0}
{"id": "HP:0002246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal duodenum morphology", "equivalent_identifiers": ["HP:0002246", "UMLS:C4025716"], "information_content": 78.8}
{"id": "MONDO:0014309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to CEP19 deficiency", "equivalent_identifiers": ["MONDO:0014309", "OMIM:615703", "orphanet:397615", "UMLS:C3810324", "medgen:816654"], "information_content": 100.0}
{"id": "MONDO:0010212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group D", "equivalent_identifiers": ["MONDO:0010212", "DOID:0110845", "OMIM:278730", "UMLS:C0268138", "MESH:C562591", "NCIT:C3967", "SNOMEDCT:68637004", "medgen:75656"], "information_content": 90.9}
{"id": "MONDO:0013737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 46", "equivalent_identifiers": ["MONDO:0013737", "DOID:0110798", "OMIM:614409", "orphanet:320391", "UMLS:C2828721", "SNOMEDCT:723822009", "medgen:473687"], "information_content": 100.0}
{"id": "HP:0020036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb dysmetria", "equivalent_identifiers": ["HP:0020036", "UMLS:C3280708"], "information_content": 100.0}
{"id": "MONDO:0020790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gaze palsy, familial horizontal, with progressive scoliosis 1", "equivalent_identifiers": ["MONDO:0020790", "OMIM:607313", "UMLS:C4551964", "medgen:1647423"], "information_content": 100.0}
{"id": "HP:0007650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive ophthalmoplegia", "equivalent_identifiers": ["HP:0007650", "UMLS:C2062713"], "information_content": 100.0}
{"id": "OMIM:617100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FAMILIAL ADENOMATOUS POLYPOSIS 4", "equivalent_identifiers": ["OMIM:617100", "UMLS:C4310719"]}
{"id": "MONDO:0021097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intraductal breast papilloma", "equivalent_identifiers": ["MONDO:0021097", "DOID:1626", "EFO:1000306", "UMLS:C0238034", "UMLS:C4060446", "MEDDRA:10022781", "MEDDRA:10078162", "NCIT:C3863", "SNOMEDCT:254848002", "SNOMEDCT:99571000119102", "medgen:65944", "HP:6000102"], "information_content": 87.2}
{"id": "MONDO:0008479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, 'corner fracture' type", "equivalent_identifiers": ["MONDO:0008479", "DOID:0112297", "OMIM:184255", "orphanet:93315", "UMLS:C0432221", "MESH:C535793", "SNOMEDCT:254078005", "medgen:98146", "icd11.foundation:1295452752"], "information_content": 100.0}
{"id": "HP:0003908", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corner fracture of metaphysis", "equivalent_identifiers": ["HP:0003908", "UMLS:C1866687", "UMLS:C4025516", "MEDDRA:10079667", "MEDDRA:10079669", "MEDDRA:10079670"], "information_content": 100.0}
{"id": "HP:0004603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperconvex vertebral body endplates", "equivalent_identifiers": ["HP:0004603", "UMLS:C4025307"], "information_content": 100.0}
{"id": "MONDO:0032616", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 10", "equivalent_identifiers": ["MONDO:0032616", "DOID:0112075", "OMIM:618233", "UMLS:C4748768", "medgen:1648426"], "information_content": 100.0}
{"id": "MONDO:0012696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 4", "equivalent_identifiers": ["MONDO:0012696", "DOID:0060923", "OMIM:611571", "UMLS:C1969046", "MESH:C566914", "medgen:369916"], "information_content": 100.0}
{"id": "MONDO:0008187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panic disorder 1", "equivalent_identifiers": ["MONDO:0008187", "OMIM:167870", "UMLS:C1868649", "medgen:401493"], "information_content": 100.0}
{"id": "MONDO:0010978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "portal vein, cavernous transformation of", "equivalent_identifiers": ["MONDO:0010978", "OMIM:601004", "UMLS:C1832917", "MESH:C563407", "MEDDRA:10073979", "medgen:331396"], "information_content": 100.0}
{"id": "HP:0004941", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extrahepatic portal hypertension", "equivalent_identifiers": ["HP:0004941", "UMLS:C4025268"], "information_content": 100.0}
{"id": "MONDO:0054738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fraser syndrome 2", "equivalent_identifiers": ["MONDO:0054738", "DOID:0111407", "OMIM:617666", "UMLS:C4540036", "medgen:1624349"], "information_content": 100.0}
{"id": "MONDO:0032811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "night blindness, congenital stationary, type1i", "equivalent_identifiers": ["MONDO:0032811", "OMIM:618555", "UMLS:C5231408", "medgen:1684817"], "information_content": 100.0}
{"id": "MONDO:0011838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bothnia retinal dystrophy", "equivalent_identifiers": ["MONDO:0011838", "DOID:0050683", "OMIM:607475", "orphanet:85128", "UMLS:C1843816", "MESH:C564392", "SNOMEDCT:715647007", "medgen:334499", "icd11.foundation:2110390212"], "information_content": 100.0}
{"id": "MONDO:0014031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic primordial dwarfism, Alazami type", "equivalent_identifiers": ["MONDO:0014031", "OMIM:615071", "orphanet:319671", "UMLS:C3554439", "SNOMEDCT:770564004", "medgen:767353"], "information_content": 100.0}
{"id": "MONDO:0012285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left ventricular noncompaction 2", "equivalent_identifiers": ["MONDO:0012285", "OMIM:609470", "UMLS:C1836118", "medgen:322827"], "information_content": 100.0}
{"id": "MONDO:0010868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rippling muscle disease 1", "equivalent_identifiers": ["MONDO:0010868", "DOID:0070308", "OMIM:600332", "UMLS:C1838254", "MESH:C535686", "medgen:324987"], "information_content": 100.0}
{"id": "MONDO:0007538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta, type 3A", "equivalent_identifiers": ["MONDO:0007538", "DOID:0110055", "DOID:0111721", "OMIM:130900", "UMLS:C5886770", "MESH:C562880", "SNOMEDCT:109471001", "medgen:1854533"], "information_content": 100.0}
{"id": "MONDO:0013263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 54", "equivalent_identifiers": ["MONDO:0013263", "DOID:0110364", "OMIM:613428", "UMLS:C3150691", "UMLS:C5829987", "medgen:462041"], "information_content": 100.0}
{"id": "MONDO:0013709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 28", "equivalent_identifiers": ["MONDO:0013709", "DOID:0081199", "OMIM:614347", "UMLS:C3280545", "medgen:482175"], "information_content": 100.0}
{"id": "MONDO:0014027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 11", "equivalent_identifiers": ["MONDO:0014027", "DOID:0110708", "OMIM:615059", "UMLS:C3554409", "medgen:767323"], "information_content": 100.0}
{"id": "MONDO:0012999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "guanidinoacetate methyltransferase deficiency", "equivalent_identifiers": ["MONDO:0012999", "DOID:0050799", "OMIM:612736", "orphanet:382", "UMLS:C0574080", "MESH:C537622", "NCIT:C173468", "SNOMEDCT:124239003", "medgen:154356", "icd11.foundation:1811642217"], "information_content": 100.0}
{"id": "HP:0034321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating guanidinoacetic acid concentration", "equivalent_identifiers": ["HP:0034321", "UMLS:C5706167"], "information_content": 100.0}
{"id": "HP:6000484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated brain guanidinoacetate level by MRS", "equivalent_identifiers": ["HP:6000484", "UMLS:C5937251"], "information_content": 100.0}
{"id": "HP:6000722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue guanidinoacetate methyltransferase activity", "equivalent_identifiers": ["HP:6000722", "UMLS:C5937455"], "information_content": 100.0}
{"id": "HP:0007153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive extrapyramidal movement disorder", "equivalent_identifiers": ["HP:0007153", "UMLS:C2748610"], "information_content": 100.0}
{"id": "MONDO:0011175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Friedreich ataxia 2", "equivalent_identifiers": ["MONDO:0011175", "DOID:0111219", "OMIM:601992", "UMLS:C1865981", "MESH:C566594", "medgen:356134"], "information_content": 100.0}
{"id": "HP:0003134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of peripheral nerve conduction", "equivalent_identifiers": ["HP:0003134", "UMLS:C4020690"], "information_content": 82.1}
{"id": "HP:0003133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the spinocerebellar tracts", "equivalent_identifiers": ["HP:0003133", "UMLS:C4025647"], "information_content": 72.2}
{"id": "HP:0001691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscular subvalvular aortic stenosis", "equivalent_identifiers": ["HP:0001691", "UMLS:C3887554"], "information_content": 100.0}
{"id": "HP:0011441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal medulla oblongata morphology", "equivalent_identifiers": ["HP:0011441", "UMLS:C4021148"], "information_content": 80.2}
{"id": "HP:0011397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the dorsal column of the spinal cord", "equivalent_identifiers": ["HP:0011397", "UMLS:C4023376"], "information_content": 90.9}
{"id": "MONDO:0968947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder plus optic atrophy", "equivalent_identifiers": ["MONDO:0968947", "OMIM:620784", "UMLS:C5935605", "medgen:1859522"], "information_content": 100.0}
{"id": "MONDO:0968979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and seizures", "equivalent_identifiers": ["MONDO:0968979", "OMIM:620790", "UMLS:C5935609", "medgen:1857806"], "information_content": 100.0}
{"id": "HP:0032724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal impaired awareness tonic seizure", "equivalent_identifiers": ["HP:0032724", "UMLS:C5397734", "SNOMEDCT:1269362005"], "information_content": 100.0}
{"id": "MONDO:0030859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COACH syndrome 2", "equivalent_identifiers": ["MONDO:0030859", "OMIM:619111", "UMLS:C5436837", "medgen:1752166"], "information_content": 100.0}
{"id": "MONDO:0014541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temple syndrome", "equivalent_identifiers": ["MONDO:0014541", "DOID:0111713", "OMIM:616222", "orphanet:254516", "UMLS:C4015558", "MESH:C000726750", "NCIT:C120409", "SNOMEDCT:1003405008", "SNOMEDCT:778012003", "medgen:863995"], "information_content": 90.9}
{"id": "OMIM:270350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ANOSMIA FOR BUTYL MERCAPTAN", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["OMIM:270350", "UMLS:C1849192"]}
{"id": "HP:0006606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular chondrocostal junctions", "equivalent_identifiers": ["HP:0006606", "UMLS:C1861199"], "information_content": 100.0}
{"id": "MONDO:0013752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplastic left heart syndrome 2", "equivalent_identifiers": ["MONDO:0013752", "OMIM:614435", "UMLS:C3280795", "medgen:482425"], "information_content": 100.0}
{"id": "MONDO:0009181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "equivalent_identifiers": ["MONDO:0009181", "DOID:0090017", "OMIM:226670", "orphanet:257", "UMLS:C2931072", "MESH:C535955", "SNOMEDCT:723308003", "medgen:418981"], "information_content": 100.0}
{"id": "HP:0100298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motheaten muscle fibers", "equivalent_identifiers": ["HP:0100298", "UMLS:C4022160"], "information_content": 100.0}
{"id": "MONDO:0011243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "grange syndrome", "equivalent_identifiers": ["MONDO:0011243", "OMIM:602531", "orphanet:79094", "UMLS:C1865267", "MESH:C566529", "SNOMEDCT:717824007", "medgen:355427", "icd11.foundation:729368905"], "information_content": 100.0}
{"id": "MONDO:0036484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, dominant intermediate G", "equivalent_identifiers": ["MONDO:0036484", "DOID:0080294", "OMIM:617882", "EFO:0010267", "UMLS:C4693509", "medgen:1642893"], "information_content": 100.0}
{"id": "MONDO:0014687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 73", "equivalent_identifiers": ["MONDO:0014687", "DOID:0110389", "OMIM:616544", "UMLS:C4225287", "medgen:907690"], "information_content": 100.0}
{"id": "MONDO:0032816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly", "equivalent_identifiers": ["MONDO:0032816", "OMIM:618569", "EFO:0010560", "UMLS:C5231413", "medgen:1684871"], "information_content": 100.0}
{"id": "MONDO:0006582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mongolian spot", "equivalent_identifiers": ["MONDO:0006582", "DOID:4702", "EFO:1000736", "UMLS:C0265985", "MESH:D049328", "MEDDRA:10027815", "NCIT:C3945", "SNOMEDCT:40467008", "medgen:75591", "HP:0011369"], "information_content": 100.0}
{"id": "MONDO:0859240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with or without peripheral neuropathy", "equivalent_identifiers": ["MONDO:0859240", "OMIM:619844", "UMLS:C5676969", "medgen:1807523"], "information_content": 100.0}
{"id": "MONDO:0009434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoproteinemia, hypercatabolic", "equivalent_identifiers": ["MONDO:0009434", "DOID:0111981", "OMIM:241600", "UMLS:C1855796", "MESH:C565476", "medgen:343422"], "information_content": 100.0}
{"id": "HP:0033670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Organizing pneumonia", "equivalent_identifiers": ["HP:0033670", "UMLS:C0264383", "MEDDRA:10067471", "MEDDRA:10067472", "MESH:D000092124"], "information_content": 100.0}
{"id": "HP:0025347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating beta-2-microglobulin level", "equivalent_identifiers": ["HP:0025347", "UMLS:C4476717"], "information_content": 100.0}
{"id": "MONDO:0014398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 21", "equivalent_identifiers": ["MONDO:0014398", "DOID:0111465", "OMIM:615918", "orphanet:420733", "EFO:0009032", "UMLS:C4706316", "SNOMEDCT:763211004", "medgen:1638633"], "information_content": 100.0}
{"id": "MONDO:0008294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute intermittent porphyria", "equivalent_identifiers": ["MONDO:0008294", "DOID:3890", "OMIM:176000", "orphanet:79276", "UMLS:C0162565", "UMLS:C1867969", "UMLS:C2936779", "MESH:C566769", "MESH:D017118", "MEDDRA:10000818", "MEDDRA:10036182", "NCIT:C84536", "SNOMEDCT:234422006", "SNOMEDCT:276263005", "medgen:56452", "icd11.foundation:1565229118"], "information_content": 100.0}
{"id": "HP:0003489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute episodes of neuropathic symptoms", "equivalent_identifiers": ["HP:0003489", "UMLS:C1867971"], "information_content": 100.0}
{"id": "HP:0100518", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysuria", "equivalent_identifiers": ["HP:0100518", "EFO:0003901", "NCIT:C2999", "UMLS:C0013428", "UMLS:C4531012", "MEDDRA:10013990", "MEDDRA:10027564", "MEDDRA:10033521", "MEDDRA:10046603", "SNOMEDCT:49650001", "MESH:D053159"], "information_content": 71.3}
{"id": "MONDO:0011174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperzincemia with functional zinc depletion", "equivalent_identifiers": ["MONDO:0011174", "OMIM:601979", "orphanet:251523", "UMLS:C1865986", "UMLS:C4760957", "MESH:C565988", "MESH:C566595", "MEDDRA:10081947", "MEDDRA:10081949", "MEDDRA:10081950", "SNOMEDCT:771339005", "medgen:356415"], "information_content": 100.0}
{"id": "HP:0011424", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperzincemia", "equivalent_identifiers": ["HP:0011424", "UMLS:C0854520", "UMLS:C0856208", "MEDDRA:10020921", "MEDDRA:10040437", "MEDDRA:10054419"], "information_content": 100.0}
{"id": "MONDO:0011486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy 1B", "equivalent_identifiers": ["MONDO:0011486", "DOID:0110634", "OMIM:604801", "orphanet:98893", "UMLS:C1858118", "MESH:C565748", "SNOMEDCT:764944006", "medgen:346746"], "information_content": 100.0}
{"id": "HP:0003720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized muscle hypertrophy", "equivalent_identifiers": ["HP:0003720", "UMLS:C3805639"], "information_content": 100.0}
{"id": "HP:0012037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pectoralis amyotrophy", "equivalent_identifiers": ["HP:0012037", "UMLS:C4023066"], "information_content": 100.0}
{"id": "MONDO:0859278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoderma-ichthyosis-deafness syndrome, autosomal recessive", "equivalent_identifiers": ["MONDO:0859278", "OMIM:620009", "UMLS:C5774200", "medgen:1823973"], "information_content": 100.0}
{"id": "HP:0007545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital palmoplantar hyperkeratosis", "equivalent_identifiers": ["HP:0007545", "UMLS:C1855633"], "information_content": 100.0}
{"id": "MONDO:0032827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 16", "equivalent_identifiers": ["MONDO:0032827", "OMIM:618596", "UMLS:C5231421", "medgen:1684869"], "information_content": 100.0}
{"id": "MONDO:0010472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 36", "equivalent_identifiers": ["MONDO:0010472", "DOID:0080470", "OMIM:300884", "orphanet:324422", "UMLS:C4317295", "NCIT:C142803", "SNOMEDCT:733451007", "medgen:1382656"], "information_content": 100.0}
{"id": "MONDO:0030514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy", "equivalent_identifiers": ["MONDO:0030514", "DOID:0070397", "OMIM:619688", "UMLS:C5562074", "medgen:1794284"], "information_content": 100.0}
{"id": "MONDO:0011535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split hand-foot malformation 4", "equivalent_identifiers": ["MONDO:0011535", "DOID:0090023", "OMIM:605289", "UMLS:C1854442", "MESH:C565344", "medgen:343120"], "information_content": 100.0}
{"id": "MONDO:0859281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with autism and dysmorphic facies", "equivalent_identifiers": ["MONDO:0859281", "OMIM:620021", "UMLS:C5774206", "medgen:1823979"], "information_content": 100.0}
{"id": "MONDO:0030818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 73", "equivalent_identifiers": ["MONDO:0030818", "DOID:0070572", "OMIM:619878", "UMLS:C5676988", "medgen:1801127"], "information_content": 100.0}
{"id": "MONDO:0007037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achondroplasia", "equivalent_identifiers": ["MONDO:0007037", "DOID:4480", "OMIM:100800", "orphanet:15", "UMLS:C0001080", "MESH:D000130", "MEDDRA:10000452", "MEDDRA:10000453", "NCIT:C34345", "SNOMEDCT:86268005", "medgen:1289", "icd11.foundation:24224082"], "information_content": 92.8}
{"id": "HP:0005733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal stenosis with reduced interpedicular distance", "equivalent_identifiers": ["HP:0005733", "UMLS:C4021625"], "information_content": 100.0}
{"id": "HP:0008414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar kyphosis in infancy", "equivalent_identifiers": ["HP:0008414", "UMLS:C1863423"], "information_content": 100.0}
{"id": "HP:6000920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Craniocervical junction constriction", "equivalent_identifiers": ["HP:6000920", "UMLS:C5970273"], "information_content": 100.0}
{"id": "MONDO:0958323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0958323", "OMIM:620747", "UMLS:C5935590", "medgen:1857802"], "information_content": 100.0}
{"id": "MONDO:0014402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe neurodegenerative syndrome with lipodystrophy", "equivalent_identifiers": ["MONDO:0014402", "OMIM:615924", "orphanet:363400", "UMLS:C4014700", "medgen:863137"], "information_content": 100.0}
{"id": "MONDO:0013253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast-ovarian cancer, familial, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0013253", "OMIM:613399", "UMLS:C3150659", "UMLS:C3150660", "UMLS:C3150661", "medgen:462009"], "information_content": 100.0}
{"id": "MONDO:0010248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked spondyloepimetaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0010248", "DOID:0112150", "OMIM:300106", "orphanet:93349", "UMLS:C1848097", "MESH:C564714", "NCIT:C188996", "SNOMEDCT:770603000", "medgen:376281"], "information_content": 100.0}
{"id": "HP:0004981", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent styloid process of ulna", "equivalent_identifiers": ["HP:0004981", "UMLS:C4025262"], "information_content": 100.0}
{"id": "HP:0004000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped distal radial epiphysis", "equivalent_identifiers": ["HP:0004000", "UMLS:C4025457"], "information_content": 100.0}
{"id": "HP:0003988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long ulna", "equivalent_identifiers": ["HP:0003988", "UMLS:C1848108"], "information_content": 95.4}
{"id": "HP:0005066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses fused within their metaphyses", "equivalent_identifiers": ["HP:0005066", "UMLS:C4025255"], "information_content": 100.0}
{"id": "HP:0011940", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior wedging of T12", "equivalent_identifiers": ["HP:0011940", "UMLS:C4021108"], "information_content": 100.0}
{"id": "MONDO:0009921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly-postaxial polydactyly syndrome", "equivalent_identifiers": ["MONDO:0009921", "OMIM:264480", "orphanet:2166", "UMLS:C1849649", "MESH:C535829", "NCIT:C125418", "SNOMEDCT:716091000", "medgen:340382"], "information_content": 100.0}
{"id": "MONDO:0013728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pregnancy loss, recurrent, susceptibility to, 2", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0013728", "OMIM:614390", "UMLS:C3280672", "medgen:482302"], "information_content": 100.0}
{"id": "MONDO:0008879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowen-Conradi syndrome", "equivalent_identifiers": ["MONDO:0008879", "DOID:0050684", "OMIM:211180", "orphanet:1270", "UMLS:C1859405", "MESH:C537081", "SNOMEDCT:711153001", "medgen:349160", "icd11.foundation:1713786719"], "information_content": 100.0}
{"id": "OMIM:610069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyposis Syndrome, Hereditary Mixed, 2", "equivalent_identifiers": ["OMIM:610069", "UMLS:C1864730", "MESH:C566451"]}
{"id": "HP:0012198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile colonic polyposis", "equivalent_identifiers": ["HP:0012198", "UMLS:C4023006"], "information_content": 100.0}
{"id": "HP:0012183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplastic colonic polyposis", "equivalent_identifiers": ["HP:0012183", "UMLS:C4023010"], "information_content": 100.0}
{"id": "MONDO:0054726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 22", "equivalent_identifiers": ["MONDO:0054726", "DOID:0070177", "OMIM:617706", "UMLS:C4540179", "medgen:1618089"], "information_content": 100.0}
{"id": "MONDO:0032750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 2B2", "equivalent_identifiers": ["MONDO:0032750", "DOID:0111601", "OMIM:618435", "UMLS:C5193097", "medgen:1674500"], "information_content": 100.0}
{"id": "MONDO:0020787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomagnesemia, seizures, and intellectual disability 1", "equivalent_identifiers": ["MONDO:0020787", "OMIM:616418", "UMLS:C4225333", "medgen:906582"], "information_content": 100.0}
{"id": "HP:0025501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Class 3 Obesity", "equivalent_identifiers": ["HP:0025501", "NCIT:C178882", "UMLS:C1556381", "MEDDRA:10090595"], "information_content": 100.0}
{"id": "MONDO:0012658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type B2", "equivalent_identifiers": ["MONDO:0012658", "DOID:0110975", "OMIM:611377", "orphanet:140908", "UMLS:C1969652", "SNOMEDCT:770406002", "medgen:409880", "icd11.foundation:891810441"], "information_content": 100.0}
{"id": "MONDO:0971012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class I deficiency 3", "equivalent_identifiers": ["MONDO:0971012", "OMIM:620814", "UMLS:C5935618", "medgen:1858909"], "information_content": 100.0}
{"id": "MONDO:0009343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect", "equivalent_identifiers": ["MONDO:0009343", "OMIM:235750", "UMLS:C1856111", "UMLS:C2931738", "MESH:C538120", "MESH:C565517", "medgen:341065"], "information_content": 100.0}
{"id": "MONDO:0032696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 6", "equivalent_identifiers": ["MONDO:0032696", "OMIM:618353", "UMLS:C5193047", "medgen:1682649"], "information_content": 100.0}
{"id": "HP:0020157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin zona pellucida", "equivalent_identifiers": ["HP:0020157", "UMLS:C5209250"], "information_content": 100.0}
{"id": "MONDO:0013179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 44", "equivalent_identifiers": ["MONDO:0013179", "DOID:0110796", "OMIM:613206", "orphanet:320401", "UMLS:C2750784", "MESH:C567707", "SNOMEDCT:723821002", "medgen:413042"], "information_content": 100.0}
{"id": "MONDO:0008594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial multiple discoid fibromas", "equivalent_identifiers": ["MONDO:0008594", "OMIM:190340", "orphanet:538756", "UMLS:C1860850", "MESH:C536847", "SNOMEDCT:1222705009", "medgen:348201"], "information_content": 100.0}
{"id": "MONDO:0014296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome 4", "equivalent_identifiers": ["MONDO:0014296", "DOID:0110719", "OMIM:615663", "UMLS:C3810265", "medgen:816595"], "information_content": 100.0}
{"id": "MONDO:0011117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iris pigment epithelium anomalies", "equivalent_identifiers": ["MONDO:0011117", "OMIM:601616", "UMLS:C1866608", "MESH:C566651", "medgen:357091"], "information_content": 100.0}
{"id": "MONDO:0033650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 15", "equivalent_identifiers": ["MONDO:0033650", "DOID:0070500", "OMIM:619059", "UMLS:C5436712", "medgen:1773430"], "information_content": 100.0}
{"id": "MONDO:0032691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 6", "equivalent_identifiers": ["MONDO:0032691", "OMIM:618347", "UMLS:C5193043", "medgen:1674560"], "information_content": 100.0}
{"id": "MONDO:0011976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy-intellectual disability-deafness syndrome", "equivalent_identifiers": ["MONDO:0011976", "OMIM:608154", "orphanet:50811", "UMLS:C1842465", "UMLS:C4302920", "MESH:C564283", "SNOMEDCT:721973006", "medgen:334166"], "information_content": 100.0}
{"id": "HP:0006257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of carpal bone ossification", "equivalent_identifiers": ["HP:0006257", "UMLS:C4025075"], "information_content": 81.3}
{"id": "HP:0004993", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slender long bones with narrow diaphyses", "equivalent_identifiers": ["HP:0004993", "UMLS:C2675547"], "information_content": 100.0}
{"id": "MONDO:0006536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy", "equivalent_identifiers": ["MONDO:0006536", "DOID:0050585", "OMIM.PS:608594", "EFO:1000681", "UMLS:C0221032", "MESH:D052497", "MEDDRA:10010533", "MEDDRA:10044095", "MEDDRA:10049286", "MEDDRA:10053432", "MEDDRA:10053547", "MEDDRA:10053860", "MEDDRA:10073666", "MEDDRA:10073668", "SNOMEDCT:284449005", "medgen:67438", "HP:0009059"], "information_content": 88.2}
{"id": "MONDO:0011847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine without aura, susceptibility to, 4", "equivalent_identifiers": ["MONDO:0011847", "OMIM:607501", "UMLS:C1843773", "medgen:336040"], "information_content": 100.0}
{"id": "MONDO:0007873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lactic acidosis, chronic adult form", "equivalent_identifiers": ["MONDO:0007873", "OMIM:150170", "UMLS:C1835591", "MESH:C563640", "medgen:320642"], "information_content": 100.0}
{"id": "MONDO:0021574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 3", "equivalent_identifiers": ["MONDO:0021574", "OMIM:617712", "UMLS:C4540205", "medgen:1617317"], "information_content": 100.0}
{"id": "MONDO:0012654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 4", "equivalent_identifiers": ["MONDO:0012654", "DOID:0110109", "OMIM:611363", "UMLS:C1969657", "MESH:C566963", "medgen:369556"], "information_content": 100.0}
{"id": "MONDO:0007051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromegaloid facial appearance syndrome", "equivalent_identifiers": ["MONDO:0007051", "OMIM:102150", "UMLS:C0796280", "MESH:C535655", "MEDDRA:10071171", "SNOMEDCT:720456009", "medgen:167116"], "information_content": 100.0}
{"id": "MONDO:0008460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenogonadal fusion-limb defects-micrognathia syndrome", "equivalent_identifiers": ["MONDO:0008460", "OMIM:183300", "orphanet:2063", "UMLS:C1866745", "MESH:C537318", "SNOMEDCT:726724005", "medgen:401073"], "information_content": 100.0}
{"id": "HP:0006333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crowded maxillary incisors", "equivalent_identifiers": ["HP:0006333", "UMLS:C4021602"], "information_content": 100.0}
{"id": "MONDO:0859352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 79", "equivalent_identifiers": ["MONDO:0859352", "DOID:0070578", "OMIM:620196", "UMLS:C5774290", "medgen:1824063"], "information_content": 100.0}
{"id": "MONDO:0030533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 73", "equivalent_identifiers": ["MONDO:0030533", "DOID:0081233", "OMIM:619717", "UMLS:C5676902", "medgen:1802013"], "information_content": 100.0}
{"id": "MONDO:0007135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic congenital nail disorder 6", "equivalent_identifiers": ["MONDO:0007135", "DOID:0080084", "OMIM:107000", "UMLS:C3275544", "medgen:477175"], "information_content": 100.0}
{"id": "MONDO:0012974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 59", "equivalent_identifiers": ["MONDO:0012974", "DOID:0110583", "OMIM:612642", "UMLS:C2675238", "MESH:C567216", "medgen:390743"], "information_content": 100.0}
{"id": "MONDO:0013648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial progressive hyperpigmentation", "equivalent_identifiers": ["MONDO:0013648", "OMIM:614233", "orphanet:79146", "UMLS:C2681535", "SNOMEDCT:715630006", "icd11.foundation:1808730427"], "information_content": 92.8}
{"id": "MONDO:0008546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thanatophoric dysplasia type 1", "equivalent_identifiers": ["MONDO:0008546", "OMIM:187600", "orphanet:1860", "UMLS:C1868678", "MESH:C566844", "NCIT:C98583", "SNOMEDCT:389157002", "medgen:358383"], "information_content": 100.0}
{"id": "HP:0008909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lethal short-limbed short stature", "equivalent_identifiers": ["HP:0008909", "UMLS:C2674171"], "information_content": 100.0}
{"id": "HP:0034222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporal lobe dysplasia", "equivalent_identifiers": ["HP:0034222", "UMLS:C5676808"], "information_content": 100.0}
{"id": "HP:0000910", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide-cupped costochondral junctions", "equivalent_identifiers": ["HP:0000910", "UMLS:C1861213"], "information_content": 100.0}
{"id": "HP:0030928", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-minute APGAR score of 1", "equivalent_identifiers": ["HP:0030928", "UMLS:C4476858"], "information_content": 100.0}
{"id": "HP:0034226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Champagne cork sign", "equivalent_identifiers": ["HP:0034226", "UMLS:C5676812"], "information_content": 100.0}
{"id": "HP:0030921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5-minute APGAR score of 1", "equivalent_identifiers": ["HP:0030921", "UMLS:C4476851"], "information_content": 100.0}
{"id": "HP:0006584", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small abnormally formed scapulae", "equivalent_identifiers": ["HP:0006584", "UMLS:C1861226"], "information_content": 100.0}
{"id": "MONDO:0007077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tietz syndrome", "equivalent_identifiers": ["MONDO:0007077", "DOID:0090002", "OMIM:103500", "orphanet:42665", "UMLS:C0391816", "MESH:C536919", "SNOMEDCT:403805009", "medgen:98213"], "information_content": 100.0}
{"id": "MONDO:0012804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 12", "equivalent_identifiers": ["MONDO:0012804", "DOID:0110318", "OMIM:612124", "UMLS:C2677491", "medgen:393755"], "information_content": 100.0}
{"id": "HP:0034386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced left ventricular endsystolic diameter", "equivalent_identifiers": ["HP:0034386", "UMLS:C5706203"], "information_content": 100.0}
{"id": "MONDO:0033657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 20", "equivalent_identifiers": ["MONDO:0033657", "DOID:0112153", "OMIM:619071", "UMLS:C5436730", "medgen:1765130"], "information_content": 100.0}
{"id": "HP:0030081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punctate periventricular T2 hyperintense foci", "equivalent_identifiers": ["HP:0030081", "UMLS:C4022658"], "information_content": 100.0}
{"id": "MONDO:0014596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 7 with cerebellar hypoplasia", "equivalent_identifiers": ["MONDO:0014596", "DOID:0112231", "OMIM:616342", "UMLS:C4225359", "medgen:895680"], "information_content": 100.0}
{"id": "MONDO:0012547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 4", "equivalent_identifiers": ["MONDO:0012547", "DOID:0060582", "OMIM:610733", "UMLS:C1853120", "MESH:C548082", "NCIT:C176932", "medgen:339908"], "information_content": 100.0}
{"id": "MONDO:0033656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 21", "equivalent_identifiers": ["MONDO:0033656", "DOID:0070506", "OMIM:619065", "UMLS:C5436727", "medgen:1732562"], "information_content": 100.0}
{"id": "MONDO:0014385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta hypomaturation type 2A5", "equivalent_identifiers": ["MONDO:0014385", "DOID:0110063", "OMIM:615887", "UMLS:C4014578", "medgen:863015"], "information_content": 100.0}
{"id": "MONDO:0013798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16q22 deletion syndrome", "equivalent_identifiers": ["MONDO:0013798", "DOID:0060401", "OMIM:614541", "orphanet:658540", "UMLS:C3281152", "medgen:482782"], "information_content": 100.0}
{"id": "MONDO:0009261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM1 gangliosidosis type 2", "equivalent_identifiers": ["MONDO:0009261", "DOID:0080501", "OMIM:230600", "orphanet:79256", "UMLS:C0268272", "UMLS:C1968746", "MESH:C566893", "SNOMEDCT:18756002", "medgen:120625", "icd11.foundation:1132250614"], "information_content": 100.0}
{"id": "HP:0007272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive psychomotor deterioration", "equivalent_identifiers": ["HP:0007272", "UMLS:C1856565"], "information_content": 100.0}
{"id": "MONDO:0012982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia type 6", "equivalent_identifiers": ["MONDO:0012982", "DOID:0050994", "OMIM:612656", "orphanet:209967", "UMLS:C2675211", "MESH:C567207", "SNOMEDCT:718753002", "medgen:390739", "icd11.foundation:1493336901"], "information_content": 100.0}
{"id": "HP:0006852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic generalized hypotonia", "equivalent_identifiers": ["HP:0006852", "UMLS:C4024976"], "information_content": 100.0}
{"id": "MONDO:0014058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial dysmorphism-immunodeficiency-livedo-short stature syndrome", "equivalent_identifiers": ["MONDO:0014058", "OMIM:615139", "orphanet:352712", "UMLS:C3554576", "medgen:767490"], "information_content": 100.0}
{"id": "MONDO:0013643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperuricemic nephropathy, familial juvenile type 3", "equivalent_identifiers": ["MONDO:0013643", "OMIM:614227", "UMLS:C3280216", "medgen:481846"], "information_content": 100.0}
{"id": "HP:0032581", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal insterstitial morphology", "equivalent_identifiers": ["HP:0032581", "UMLS:C5397606"], "information_content": 76.7}
{"id": "MONDO:0007828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "indifference to pain, congenital, autosomal dominant", "equivalent_identifiers": ["MONDO:0007828", "DOID:0081075", "OMIM:147430", "UMLS:C1840219", "UMLS:C4538468", "MESH:C564128", "medgen:1613569"], "information_content": 100.0}
{"id": "MONDO:0010851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lowry-MacLean syndrome", "equivalent_identifiers": ["MONDO:0010851", "OMIM:600252", "orphanet:2409", "UMLS:C0796020", "MESH:C537037", "SNOMEDCT:721974000", "medgen:167095", "icd11.foundation:698387769"], "information_content": 100.0}
{"id": "MONDO:0014636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 25", "equivalent_identifiers": ["MONDO:0014636", "DOID:0111468", "OMIM:616430", "orphanet:447954", "UMLS:C5567742", "SNOMEDCT:1173035001", "medgen:1799165"], "information_content": 100.0}
{"id": "MONDO:0007113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angelman syndrome", "equivalent_identifiers": ["MONDO:0007113", "DOID:1932", "OMIM:105830", "orphanet:72", "UMLS:C0162635", "UMLS:C2930801", "UMLS:C5574895", "MESH:C531619", "MESH:D017204", "MEDDRA:10049004", "MEDDRA:10052652", "NCIT:C75462", "SNOMEDCT:76880004", "medgen:58144", "icd11.foundation:1106558408", "ICD10:Q93.51"], "information_content": 89.4}
{"id": "MONDO:0007087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating hemiplegia of childhood 1", "equivalent_identifiers": ["MONDO:0007087", "OMIM:104290", "UMLS:C3549447", "medgen:762361"], "information_content": 100.0}
{"id": "HP:0012194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic hemiplegia", "equivalent_identifiers": ["HP:0012194", "UMLS:C1863061"], "information_content": 100.0}
{"id": "MONDO:0009477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stromme syndrome", "equivalent_identifiers": ["MONDO:0009477", "DOID:0110595", "OMIM:243605", "orphanet:444069", "orphanet:506307", "EFO:0009160", "UMLS:C1855705", "MESH:C565460", "SNOMEDCT:1187120008", "medgen:340938"], "information_content": 100.0}
{"id": "MONDO:0032716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate", "equivalent_identifiers": ["MONDO:0032716", "OMIM:618384", "orphanet:615964", "EFO:0010262", "UMLS:C5193068", "SNOMEDCT:1340040004", "medgen:1677730"], "information_content": 100.0}
{"id": "HP:6000468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF alpha-ketoglutarate concentration", "equivalent_identifiers": ["HP:6000468", "UMLS:C5937237"], "information_content": 100.0}
{"id": "MONDO:0007630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "North Carolina macular dystrophy", "equivalent_identifiers": ["MONDO:0007630", "DOID:0070439", "OMIM:136550", "orphanet:75327", "UMLS:C0730294", "MESH:C537835", "NCIT:C168999", "SNOMEDCT:312925009", "medgen:147590", "icd11.foundation:1931008217"], "information_content": 100.0}
{"id": "MONDO:0012242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syncope, familial vasovagal", "equivalent_identifiers": ["MONDO:0012242", "OMIM:609289", "UMLS:C1836438", "MESH:C536849", "medgen:373086"], "information_content": 100.0}
{"id": "MONDO:0014381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 4", "equivalent_identifiers": ["MONDO:0014381", "DOID:0070224", "OMIM:615878", "orphanet:480483", "UMLS:C2931067", "SNOMEDCT:1295517006", "medgen:418976"], "information_content": 100.0}
{"id": "MONDO:0800104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 105", "equivalent_identifiers": ["MONDO:0800104", "DOID:0061074", "OMIM:619924", "UMLS:C5677005", "medgen:1809425"], "information_content": 100.0}
{"id": "MONDO:0007644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgAD1", "equivalent_identifiers": ["MONDO:0007644", "OMIM:137100", "UMLS:C2931161", "MESH:C536290", "NCIT:C123434", "medgen:419725"], "information_content": 100.0}
{"id": "MONDO:0060670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis, susceptibility to, 25", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0060670", "DOID:0081379", "OMIM:617921", "UMLS:C4693609", "medgen:1633917"], "information_content": 100.0}
{"id": "MONDO:0859331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rabin-Pappas syndrome", "equivalent_identifiers": ["MONDO:0859331", "OMIM:620155", "UMLS:C5774269", "medgen:1824042"], "information_content": 100.0}
{"id": "MONDO:0010403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "albinism-hearing loss syndrome", "equivalent_identifiers": ["MONDO:0010403", "OMIM:300700", "orphanet:998", "UMLS:C0268510", "UMLS:C1845068", "MESH:C537042", "SNOMEDCT:722285005", "SNOMEDCT:74320008", "medgen:375573"], "information_content": 100.0}
{"id": "HP:0007509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy hypo- and hyperpigmentation", "equivalent_identifiers": ["HP:0007509", "UMLS:C4021573"], "information_content": 100.0}
{"id": "MONDO:0010238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 4", "equivalent_identifiers": ["MONDO:0010238", "DOID:0111735", "OMIM:300066", "UMLS:C1848204", "MESH:C564723", "NCIT:C180844", "medgen:376307"], "information_content": 100.0}
{"id": "MONDO:0004914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "celiac artery stenosis from compression by median arcuate ligament of diaphragm", "equivalent_identifiers": ["MONDO:0004914", "DOID:9892", "OMIM:116870", "UMLS:C0152098", "UMLS:C1861783", "UMLS:C4020693", "MESH:D000074742", "MEDDRA:10007863", "MEDDRA:10009838", "MEDDRA:10083407", "NCIT:C197856", "SNOMEDCT:9250002", "medgen:349361", "ICD10:I77.4", "ICD9:447.4", "HP:0012327"], "information_content": 100.0}
{"id": "MONDO:0014306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vasculitis due to ADA2 deficiency", "equivalent_identifiers": ["MONDO:0014306", "OMIM:615688", "orphanet:404553", "EFO:0009295", "UMLS:C3887654", "medgen:854497"], "information_content": 100.0}
{"id": "HP:6000562", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating adenosine deaminase-2 activity", "equivalent_identifiers": ["HP:6000562", "UMLS:C5937324"], "information_content": 100.0}
{"id": "HP:0033261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal artery aneurysm", "equivalent_identifiers": ["HP:0033261", "NCIT:C197838", "UMLS:C0155742", "MEDDRA:10002357", "MEDDRA:10038374", "SNOMEDCT:36184004"], "information_content": 100.0}
{"id": "HP:0030351", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urticarial plaque", "equivalent_identifiers": ["HP:0030351", "UMLS:C4072895"], "information_content": 100.0}
{"id": "MONDO:0008703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 2A", "equivalent_identifiers": ["MONDO:0008703", "DOID:0080052", "OMIM:200700", "orphanet:2098", "UMLS:C0265260", "MESH:C537915", "NCIT:C3816", "SNOMEDCT:77542002", "medgen:75557"], "information_content": 100.0}
{"id": "HP:6000650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal tibiofibular synostosis", "equivalent_identifiers": ["HP:6000650", "UMLS:C5937398"], "information_content": 100.0}
{"id": "HP:6001052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibiotalar synostosis", "equivalent_identifiers": ["HP:6001052", "UMLS:C5970379"], "information_content": 100.0}
{"id": "HP:0003086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acromesomelia", "equivalent_identifiers": ["HP:0003086", "UMLS:C1864365"], "information_content": 100.0}
{"id": "HP:6000921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular torsion", "equivalent_identifiers": ["HP:6000921", "UMLS:C5970274"], "information_content": 100.0}
{"id": "HP:0006228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Valgus hand deformity", "equivalent_identifiers": ["HP:0006228", "UMLS:C1860179"], "information_content": 100.0}
{"id": "MONDO:0013811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 9", "equivalent_identifiers": ["MONDO:0013811", "DOID:0111472", "OMIM:614582", "orphanet:319509", "UMLS:C4706315", "SNOMEDCT:763209008", "medgen:1634481"], "information_content": 100.0}
{"id": "MONDO:0010800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram syndrome, mitochondrial form", "equivalent_identifiers": ["MONDO:0010800", "DOID:0080583", "OMIM:598500", "UMLS:C1838782", "MESH:C564012", "medgen:325511"], "information_content": 100.0}
{"id": "MONDO:0014619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 3, photosensitive", "equivalent_identifiers": ["MONDO:0014619", "DOID:0111871", "OMIM:616395", "UMLS:C4017171", "NCIT:C173099", "medgen:865608"], "information_content": 100.0}
{"id": "HP:0033134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal adhesions", "equivalent_identifiers": ["HP:0033134", "UMLS:C0549357", "MEDDRA:10000050"], "information_content": 100.0}
{"id": "MONDO:0054776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial focal, with variable foci 4", "equivalent_identifiers": ["MONDO:0054776", "DOID:0081424", "OMIM:617935", "UMLS:C4693694", "medgen:1644614"], "information_content": 100.0}
{"id": "MONDO:0859324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, language impairment, and ocular abnormalities", "equivalent_identifiers": ["MONDO:0859324", "OMIM:620141", "orphanet:662762", "UMLS:C5774262", "medgen:1824035"], "information_content": 100.0}
{"id": "MONDO:0008767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 3", "equivalent_identifiers": ["MONDO:0008767", "DOID:0110731", "OMIM:204200", "orphanet:228346", "UMLS:C0751383", "MEDDRA:10052073", "MEDDRA:10052082", "MEDDRA:10054968", "MEDDRA:10054985", "NCIT:C61258", "medgen:155549"], "information_content": 100.0}
{"id": "HP:0003463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased extraneuronal autofluorescent lipopigment", "equivalent_identifiers": ["HP:0003463", "UMLS:C1859828"], "information_content": 100.0}
{"id": "MONDO:0016581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conotruncal heart malformations", "equivalent_identifiers": ["MONDO:0016581", "OMIM:217095", "orphanet:2445", "UMLS:C0795907", "UMLS:C1857586", "MESH:C535464", "SNOMEDCT:218728005", "medgen:341803"], "information_content": 79.9}
{"id": "MONDO:0010063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal-cerebellar syndrome", "equivalent_identifiers": ["MONDO:0010063", "OMIM:271310", "orphanet:3177", "UMLS:C1849087", "MESH:C535472", "SNOMEDCT:720750004", "medgen:341379", "icd11.foundation:577494924"], "information_content": 100.0}
{"id": "MONDO:0007881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, 4", "equivalent_identifiers": ["MONDO:0007881", "OMIM:150400", "UMLS:C1835492", "UMLS:C1835493", "MESH:C563634", "medgen:372057"], "information_content": 100.0}
{"id": "HP:0006481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of primary teeth", "equivalent_identifiers": ["HP:0006481", "UMLS:C4021596"], "information_content": 82.6}
{"id": "MONDO:0009111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dihydropyrimidinuria", "equivalent_identifiers": ["MONDO:0009111", "DOID:0111629", "OMIM:222748", "orphanet:38874", "UMLS:C0342803", "UMLS:C3495551", "MESH:C562815", "SNOMEDCT:238014002", "medgen:83353"], "information_content": 100.0}
{"id": "HP:6000331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary thymine level", "equivalent_identifiers": ["HP:6000331", "UMLS:C5937127"], "information_content": 100.0}
{"id": "HP:6000211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF dihydrouracil concentration", "equivalent_identifiers": ["HP:6000211", "UMLS:C5937042"], "information_content": 100.0}
{"id": "HP:6000118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary dihydrouracil level", "equivalent_identifiers": ["HP:6000118", "UMLS:C5936973"], "information_content": 100.0}
{"id": "HP:4000095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating thymine concentration", "equivalent_identifiers": ["HP:4000095", "UMLS:C5826847"], "information_content": 100.0}
{"id": "HP:6000083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic dihydropyrimidinase activity", "equivalent_identifiers": ["HP:6000083", "UMLS:C5936952"], "information_content": 100.0}
{"id": "HP:0033139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating uracil concentration", "equivalent_identifiers": ["HP:0033139", "UMLS:C5421635"], "information_content": 100.0}
{"id": "HP:0034593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating dihydrouracil concentration", "equivalent_identifiers": ["HP:0034593", "UMLS:C5826505"], "information_content": 100.0}
{"id": "MONDO:0032843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngeal myopathy with leukoencephalopathy 1", "equivalent_identifiers": ["MONDO:0032843", "OMIM:618637", "UMLS:C5231436", "medgen:1684701"], "information_content": 100.0}
{"id": "MONDO:0009389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlysinemia due to defect in lysine transport into mitochondria", "equivalent_identifiers": ["MONDO:0009389", "OMIM:238710", "UMLS:C1855927", "MESH:C565499", "medgen:341010"], "information_content": 100.0}
{"id": "HP:0008265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitochondrial lysine transport defect", "equivalent_identifiers": ["HP:0008265", "UMLS:C4024715"], "information_content": 100.0}
{"id": "MONDO:0013410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 6", "equivalent_identifiers": ["MONDO:0013410", "DOID:0111769", "OMIM:613762", "UMLS:C3151064", "medgen:462414"], "information_content": 100.0}
{"id": "MONDO:0013415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17p13.1 deletion syndrome", "equivalent_identifiers": ["MONDO:0013415", "DOID:0060402", "OMIM:613776", "UMLS:C1955870", "UMLS:C3151069", "MESH:D054221", "medgen:462419"], "information_content": 95.4}
{"id": "HP:0040158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short intermamillary distance", "equivalent_identifiers": ["HP:0040158", "UMLS:C4022411"], "information_content": 100.0}
{"id": "MONDO:0013527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 4", "equivalent_identifiers": ["MONDO:0013527", "DOID:0112235", "OMIM:614019", "UMLS:C3151461", "medgen:462811"], "information_content": 100.0}
{"id": "MONDO:0009967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular acidosis 3", "equivalent_identifiers": ["MONDO:0009967", "OMIM:267200", "UMLS:C1849435", "MESH:C537759", "medgen:336601"], "information_content": 100.0}
{"id": "HP:0004910", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bicarbonate-wasting renal tubular acidosis", "equivalent_identifiers": ["HP:0004910", "UMLS:C1858626"], "information_content": 100.0}
{"id": "MONDO:0007804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pallister-Hall syndrome", "equivalent_identifiers": ["MONDO:0007804", "DOID:9248", "OMIM:146510", "orphanet:672", "UMLS:C0265220", "MESH:D054975", "MEDDRA:10089178", "NCIT:C84987", "SNOMEDCT:56677004", "medgen:120514", "icd11.foundation:1845613381"], "information_content": 95.4}
{"id": "HP:0010564", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid epiglottis", "equivalent_identifiers": ["HP:0010564", "UMLS:C0339864", "SNOMEDCT:232412004"], "information_content": 100.0}
{"id": "HP:0007601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline facial capillary hemangioma", "equivalent_identifiers": ["HP:0007601", "UMLS:C1840310"], "information_content": 100.0}
{"id": "HP:0008706", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal urethral duplication", "equivalent_identifiers": ["HP:0008706", "UMLS:C4024634"], "information_content": 100.0}
{"id": "MONDO:0024264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism, congenital, nongoitrous, 2", "equivalent_identifiers": ["MONDO:0024264", "DOID:0070124", "OMIM:218700", "UMLS:C1563716", "UMLS:C1869118", "MESH:C566852", "MESH:D050033", "NCIT:C85190", "medgen:358389", "HP:0008188"], "information_content": 89.4}
{"id": "MONDO:0029142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 111", "equivalent_identifiers": ["MONDO:0029142", "DOID:0111640", "OMIM:618145", "UMLS:C4748374", "medgen:1648423"], "information_content": 100.0}
{"id": "MONDO:0015000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 48", "equivalent_identifiers": ["MONDO:0015000", "DOID:0080448", "OMIM:617276", "UMLS:C4310637", "medgen:934604"], "information_content": 100.0}
{"id": "MONDO:0009902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous porphyria", "equivalent_identifiers": ["MONDO:0009902", "DOID:13271", "OMIM:263700", "orphanet:79277", "UMLS:C0162530", "UMLS:C2718078", "UMLS:C5886774", "MESH:D017092", "MEDDRA:10015288", "NCIT:C84697", "SNOMEDCT:190913009", "SNOMEDCT:22935002", "SNOMEDCT:67312003", "medgen:1861084"], "information_content": 100.0}
{"id": "HP:0011457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loss of eyelashes", "equivalent_identifiers": ["HP:0011457", "UMLS:C0271321", "UMLS:C4316878", "MEDDRA:10024863", "MEDDRA:10051235", "MEDDRA:10069935", "SNOMEDCT:34887006"], "information_content": 100.0}
{"id": "HP:6000514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte uroporphyrinogen III cosynthase activity", "equivalent_identifiers": ["HP:6000514", "UMLS:C5937277"], "information_content": 100.0}
{"id": "HP:0033009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal coproporphyrin 1", "equivalent_identifiers": ["HP:0033009", "UMLS:C5397995"], "information_content": 100.0}
{"id": "HP:0030756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythrodontia", "equivalent_identifiers": ["HP:0030756", "UMLS:C4280783"], "information_content": 100.0}
{"id": "HP:0032001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pink urine", "equivalent_identifiers": ["HP:0032001", "UMLS:C1849715"], "information_content": 100.0}
{"id": "HP:0034905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating uroporphyrin concentration", "equivalent_identifiers": ["HP:0034905", "UMLS:C5826755"], "information_content": 100.0}
{"id": "MONDO:0011075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 18", "equivalent_identifiers": ["MONDO:0011075", "DOID:0110356", "OMIM:601414", "UMLS:C1832378", "MESH:C563320", "medgen:371314"], "information_content": 100.0}
{"id": "HP:0007987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive visual field defects", "equivalent_identifiers": ["HP:0007987", "UMLS:C4024760"], "information_content": 100.0}
{"id": "OMIM:609048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3", "equivalent_identifiers": ["OMIM:609048", "UMLS:C1836892"]}
{"id": "MONDO:0014506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 9", "equivalent_identifiers": ["MONDO:0014506", "DOID:0060791", "OMIM:616140", "orphanet:438114", "UMLS:C4015323", "SNOMEDCT:1220600004", "medgen:863760"], "information_content": 100.0}
{"id": "MONDO:0035819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CIMDAG syndrome", "equivalent_identifiers": ["MONDO:0035819", "OMIM:619273", "orphanet:603448", "UMLS:C5543287", "SNOMEDCT:1332508004", "medgen:1780242"], "information_content": 100.0}
{"id": "MONDO:0011663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile primary lateral sclerosis", "equivalent_identifiers": ["MONDO:0011663", "OMIM:606353", "orphanet:247604", "UMLS:C1853396", "MESH:C536416", "SNOMEDCT:717964007", "medgen:342870"], "information_content": 100.0}
{"id": "HP:0025747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue spasticity", "equivalent_identifiers": ["HP:0025747", "UMLS:C0241444"], "information_content": 100.0}
{"id": "MONDO:0012191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "equivalent_identifiers": ["MONDO:0012191", "DOID:0111474", "OMIM:609060", "orphanet:137681", "UMLS:C1836797", "UMLS:C4707239", "MESH:C563797", "NCIT:C125663", "SNOMEDCT:764962002", "medgen:322999"], "information_content": 100.0}
{"id": "MONDO:0024464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary hormone deficiency, combined, 1", "equivalent_identifiers": ["MONDO:0024464", "DOID:0061019", "OMIM:613038", "UMLS:C2751608", "MESH:C567803", "medgen:414421"], "information_content": 100.0}
{"id": "HP:0032210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating free T3", "equivalent_identifiers": ["HP:0032210", "UMLS:C5139195"], "information_content": 95.4}
{"id": "MONDO:0013518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary hormone deficiency, combined, 6", "equivalent_identifiers": ["MONDO:0013518", "DOID:0061022", "OMIM:613986", "UMLS:C3151440", "medgen:462790"], "information_content": 100.0}
{"id": "HP:0011757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior pituitary hypoplasia", "equivalent_identifiers": ["HP:0011757", "UMLS:C4023202"], "information_content": 100.0}
{"id": "MONDO:0012333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 53", "equivalent_identifiers": ["MONDO:0012333", "DOID:0110509", "OMIM:609706", "UMLS:C1864746", "MESH:C566453", "medgen:400602"], "information_content": 100.0}
{"id": "MONDO:0030430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 56", "equivalent_identifiers": ["MONDO:0030430", "DOID:0112336", "OMIM:619515", "UMLS:C5561978", "medgen:1794188"], "information_content": 100.0}
{"id": "MONDO:0007892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lenz-Majewski hyperostotic dwarfism", "equivalent_identifiers": ["MONDO:0007892", "DOID:0111507", "OMIM:151050", "orphanet:2658", "UMLS:C0432269", "MESH:C537115", "SNOMEDCT:1393001", "medgen:98483", "icd11.foundation:1509425242"], "information_content": 100.0}
{"id": "HP:0005477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive sclerosis of skull base", "equivalent_identifiers": ["HP:0005477", "UMLS:C1835470"], "information_content": 100.0}
{"id": "MONDO:0014714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014714", "OMIM:616632", "orphanet:477814", "UMLS:C5567650", "SNOMEDCT:1172900005", "medgen:1799073"], "information_content": 100.0}
{"id": "MONDO:0859184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventriculomegaly and arthrogryposis", "equivalent_identifiers": ["MONDO:0859184", "OMIM:619501", "UMLS:C5561973", "medgen:1794183"], "information_content": 100.0}
{"id": "MONDO:0016675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis type 10", "equivalent_identifiers": ["MONDO:0016675", "DOID:0111593", "OMIM:187370", "orphanet:251515", "UMLS:C0555248", "UMLS:C1861238", "MESH:C566069", "SNOMEDCT:1208482007", "SNOMEDCT:275336002", "medgen:349990"], "information_content": 100.0}
{"id": "MONDO:0013533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipidemia due to hepatic triglyceride lipase deficiency", "equivalent_identifiers": ["MONDO:0013533", "OMIM:614025", "orphanet:140905", "UMLS:C3151466", "SNOMEDCT:720940008", "medgen:462816"], "information_content": 100.0}
{"id": "HP:0001013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eruptive xanthomas", "equivalent_identifiers": ["HP:0001013", "UMLS:C0221252", "MEDDRA:10015144", "SNOMEDCT:238952003"], "information_content": 100.0}
{"id": "MONDO:0009050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cushing Disease", "equivalent_identifiers": ["MONDO:0009050", "DOID:7004", "OMIM:219090", "orphanet:96253", "UMLS:C0221406", "MESH:D049913", "MEDDRA:10011651", "MEDDRA:10035109", "NCIT:C113210", "medgen:66381", "icd11.foundation:380861892"], "information_content": 90.9}
{"id": "HP:0100852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fear-induced behavior", "equivalent_identifiers": ["HP:0100852", "UMLS:C4018849"], "information_content": 79.3}
{"id": "MONDO:0013879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2", "equivalent_identifiers": ["MONDO:0013879", "OMIM:614743", "UMLS:C3553622", "medgen:766536"], "information_content": 100.0}
{"id": "MONDO:0032583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 24, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0032583", "DOID:0051035", "OMIM:618179", "UMLS:C4748555", "medgen:1648413"], "information_content": 100.0}
{"id": "MONDO:0010128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyrocerebrorenal syndrome", "equivalent_identifiers": ["MONDO:0010128", "OMIM:274240", "orphanet:3327", "UMLS:C1848813", "UMLS:C4518579", "MESH:C536908", "SNOMEDCT:733096007", "medgen:341311"], "information_content": 100.0}
{"id": "MONDO:0014510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatty acyl-CoA reductase 1 deficiency", "equivalent_identifiers": ["MONDO:0014510", "DOID:0081243", "OMIM:616154", "orphanet:438178", "UMLS:C4015344", "SNOMEDCT:1237619001", "medgen:863781"], "information_content": 100.0}
{"id": "MONDO:0016862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alagille syndrome due to a JAG1 point mutation", "equivalent_identifiers": ["MONDO:0016862", "OMIM:118450", "orphanet:261619", "UMLS:C1956125", "medgen:365434"], "information_content": 100.0}
{"id": "HP:0008659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple small medullary renal cysts", "equivalent_identifiers": ["HP:0008659", "UMLS:C4020790", "UMLS:C4024644"], "information_content": 100.0}
{"id": "HP:0004617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Butterfly vertebral arch", "equivalent_identifiers": ["HP:0004617", "UMLS:C1861627"], "information_content": 100.0}
{"id": "MONDO:0031009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glanzmann thrombasthenia 2", "equivalent_identifiers": ["MONDO:0031009", "OMIM:619267", "UMLS:C5543273", "medgen:1782592"], "information_content": 100.0}
{"id": "MONDO:0009687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenia, congenital, refractory to acetylcholinesterase inhibitors", "equivalent_identifiers": ["MONDO:0009687", "OMIM:254190", "UMLS:C1850806", "MESH:C564979", "medgen:338127"], "information_content": 100.0}
{"id": "MONDO:0008050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MYH7-related skeletal myopathy", "equivalent_identifiers": ["MONDO:0008050", "DOID:0070197", "OMIM:160500", "orphanet:59135", "UMLS:C4552004", "SNOMEDCT:764859001", "medgen:1647391"], "information_content": 100.0}
{"id": "HP:0011916", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toe extensor amyotrophy", "equivalent_identifiers": ["HP:0011916", "UMLS:C4023127"], "information_content": 100.0}
{"id": "HP:0009031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amyotrophy of ankle musculature", "equivalent_identifiers": ["HP:0009031", "UMLS:C4024604"], "information_content": 100.0}
{"id": "MONDO:0012732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus", "equivalent_identifiers": ["MONDO:0012732", "OMIM:611808", "UMLS:C2678494", "MESH:C567519", "medgen:394839"], "information_content": 100.0}
{"id": "MONDO:0013994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 20", "equivalent_identifiers": ["MONDO:0013994", "DOID:0110989", "OMIM:614970", "UMLS:C3554235", "medgen:767149"], "information_content": 100.0}
{"id": "MONDO:0010774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "striatonigral degeneration, infantile, mitochondrial", "equivalent_identifiers": ["MONDO:0010774", "OMIM:500003", "UMLS:C1839022", "MESH:C564025", "medgen:374113"], "information_content": 100.0}
{"id": "HP:0031206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Striatal T2 hyperintensity", "equivalent_identifiers": ["HP:0031206", "UMLS:C4531279"], "information_content": 100.0}
{"id": "MONDO:0008937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia, benign, with thermoanalgesia", "equivalent_identifiers": ["MONDO:0008937", "OMIM:212890", "UMLS:C1859303", "MESH:C565868", "medgen:349136"], "information_content": 100.0}
{"id": "MONDO:0014777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 2", "equivalent_identifiers": ["MONDO:0014777", "OMIM:616801", "UMLS:C4225203", "medgen:907651"], "information_content": 100.0}
{"id": "MONDO:0030007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 41", "equivalent_identifiers": ["MONDO:0030007", "DOID:0112119", "OMIM:618838", "UMLS:C5394236", "medgen:1711853"], "information_content": 100.0}
{"id": "MONDO:0007046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary papulotranslucent acrokeratoderma", "equivalent_identifiers": ["MONDO:0007046", "DOID:0060360", "OMIM:101840", "EFO:1000708", "UMLS:C1863343", "MESH:C566323", "medgen:350144"], "information_content": 100.0}
{"id": "MONDO:0008303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Testotoxicosis", "equivalent_identifiers": ["MONDO:0008303", "DOID:0111545", "OMIM:176410", "orphanet:3000", "UMLS:C0342549", "UMLS:C1504412", "UMLS:C2674612", "MESH:C536961", "MESH:C567168", "MEDDRA:10063654", "MEDDRA:10063656", "SNOMEDCT:237818003", "SNOMEDCT:725295005", "medgen:87444"], "information_content": 100.0}
{"id": "HP:0008185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Precocious puberty in males", "equivalent_identifiers": ["HP:0008185", "UMLS:C1859979"], "information_content": 100.0}
{"id": "DOID:0080688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic variegated aneuploidy syndrome", "equivalent_identifiers": ["DOID:0080688", "OMIM:257300", "UMLS:C1850343", "MESH:C536987", "NCIT:C128192"], "information_content": 100.0}
{"id": "HP:0006849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypodysplasia of the corpus callosum", "equivalent_identifiers": ["HP:0006849", "UMLS:C1850348"], "information_content": 100.0}
{"id": "MONDO:0970944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leigh syndrome, mitochondrial", "equivalent_identifiers": ["MONDO:0970944", "OMIM:500017"], "information_content": 100.0}
{"id": "MONDO:0009675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2A", "equivalent_identifiers": ["MONDO:0009675", "DOID:0110275", "OMIM:253600", "orphanet:267", "UMLS:C1299884", "UMLS:C1869123", "MESH:C535895", "NCIT:C142079", "SNOMEDCT:370474006", "SNOMEDCT:715341003", "medgen:358391"], "information_content": 100.0}
{"id": "HP:0032019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle eosinophilia", "equivalent_identifiers": ["HP:0032019", "UMLS:C4732805"], "information_content": 100.0}
{"id": "MONDO:0020766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy", "equivalent_identifiers": ["MONDO:0020766", "OMIM:618186", "EFO:0004149", "UMLS:C4748608", "medgen:1648417", "ICD10:G60"], "information_content": 100.0}
{"id": "MONDO:0009587", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesoaxial hexadactyly and cardiac malformation", "equivalent_identifiers": ["MONDO:0009587", "OMIM:249670", "UMLS:C0796057", "MESH:C563087", "medgen:167099"], "information_content": 100.0}
{"id": "HP:0004150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal 3rd finger morphology", "equivalent_identifiers": ["HP:0004150", "UMLS:C4021682"], "information_content": 67.8}
{"id": "MONDO:0008915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malouf syndrome", "equivalent_identifiers": ["MONDO:0008915", "DOID:0111584", "OMIM:212112", "orphanet:2229", "UMLS:C0796031", "UMLS:C0796083", "MESH:C535580", "MESH:C535703", "NCIT:C174217", "SNOMEDCT:719451006", "medgen:162901"], "information_content": 100.0}
{"id": "HP:0031610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent shoulder dislocation", "equivalent_identifiers": ["HP:0031610", "UMLS:C0409415", "MEDDRA:10038126", "SNOMEDCT:202220001"], "information_content": 100.0}
{"id": "MONDO:0957253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea 13", "equivalent_identifiers": ["MONDO:0957253", "OMIM:620357", "UMLS:C5830477", "medgen:1841113"], "information_content": 100.0}
{"id": "MONDO:0009645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic mucocutaneous candidiasis due to monocyte chemotactic disorder", "equivalent_identifiers": ["MONDO:0009645", "OMIM:252250", "UMLS:C1854982", "MESH:C565371", "medgen:343238"], "information_content": 100.0}
{"id": "MONDO:0032931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal", "equivalent_identifiers": ["MONDO:0032931", "DOID:0081396", "OMIM:618810", "orphanet:615954", "UMLS:C5394137", "UMLS:C5394596", "medgen:1716458"], "information_content": 92.8}
{"id": "MONDO:0975953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pan-Chung-Bellen syndrome", "equivalent_identifiers": ["MONDO:0975953", "OMIM:621049", "UMLS:C5975547"], "information_content": 100.0}
{"id": "HP:0025732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal social development", "equivalent_identifiers": ["HP:0025732", "UMLS:C5775597"], "information_content": 70.3}
{"id": "HP:0200006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slanting of the palpebral fissure", "equivalent_identifiers": ["HP:0200006", "UMLS:C2748932"], "information_content": 92.8}
{"id": "HP:0400005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short ear", "equivalent_identifiers": ["HP:0400005", "UMLS:C3551041"], "information_content": 95.4}
{"id": "OMIM:601399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Platelet Disorder, Familial, with Associated Myeloid Malignancy", "equivalent_identifiers": ["OMIM:601399", "UMLS:C1832388", "MESH:C563324", "NCIT:C162696", "SNOMEDCT:725034002"], "information_content": 100.0}
{"id": "HP:0012529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dense granule content", "equivalent_identifiers": ["HP:0012529", "UMLS:C4021839"], "information_content": 100.0}
{"id": "HP:0012527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal alpha granule content", "equivalent_identifiers": ["HP:0012527", "UMLS:C4022863"], "information_content": 100.0}
{"id": "MONDO:0007733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 3", "equivalent_identifiers": ["MONDO:0007733", "DOID:0110875", "OMIM:142945", "UMLS:C1840529", "MESH:C564181", "medgen:327125"], "information_content": 95.4}
{"id": "HP:0000366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nose Deformity", "equivalent_identifiers": ["HP:0000366", "NCIT:C35296", "UMLS:C0240547", "UMLS:C0265736", "UMLS:C2235909", "MEDDRA:10010560", "MEDDRA:10029795", "MEDDRA:10061875", "MEDDRA:10062347", "SNOMEDCT:128274005", "SNOMEDCT:72089000"], "information_content": 63.4}
{"id": "MONDO:0008883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly, type A2, with microcephaly", "equivalent_identifiers": ["MONDO:0008883", "OMIM:211369", "UMLS:C1859393", "MESH:C565894", "medgen:395250"], "information_content": 100.0}
{"id": "HP:0005726", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thumbs hypoplastic with bulbous tips", "equivalent_identifiers": ["HP:0005726", "UMLS:C4025146"], "information_content": 100.0}
{"id": "MONDO:0013499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group P", "equivalent_identifiers": ["MONDO:0013499", "DOID:0111092", "OMIM:613951", "UMLS:C3469542", "medgen:854020"], "information_content": 100.0}
{"id": "MONDO:0013421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type II complement component 8 deficiency", "equivalent_identifiers": ["MONDO:0013421", "DOID:0060302", "OMIM:613789", "UMLS:C3151080", "medgen:462430"], "information_content": 100.0}
{"id": "OMIM:620343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BASAL CELL NEVUS SYNDROME 2", "equivalent_identifiers": ["OMIM:620343", "UMLS:C5830451"]}
{"id": "MONDO:0012362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1P", "equivalent_identifiers": ["MONDO:0012362", "DOID:0110439", "OMIM:609909", "UMLS:C1835928", "MESH:C563690", "NCIT:C173625", "medgen:322782"], "information_content": 100.0}
{"id": "MONDO:0010815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda with characteristic facies", "equivalent_identifiers": ["MONDO:0010815", "DOID:0112289", "OMIM:600093", "UMLS:C1838653", "MESH:C564003", "medgen:325071"], "information_content": 100.0}
{"id": "MONDO:0014790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TMEM199-CDG", "equivalent_identifiers": ["MONDO:0014790", "DOID:0070268", "OMIM:616829", "orphanet:466703", "UMLS:C4225190", "SNOMEDCT:1208738002", "medgen:895025"], "information_content": 100.0}
{"id": "MONDO:0032926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sandestig-stefanova syndrome", "equivalent_identifiers": ["MONDO:0032926", "DOID:0081272", "OMIM:618804", "UMLS:C5394118", "medgen:1718072"], "information_content": 100.0}
{"id": "HP:0011236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angulated antihelix", "equivalent_identifiers": ["HP:0011236", "UMLS:C4023446"], "information_content": 100.0}
{"id": "MONDO:0009910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wiedemann-Rautenstrauch syndrome", "equivalent_identifiers": ["MONDO:0009910", "DOID:0081333", "OMIM:264090", "orphanet:3455", "UMLS:C0406586", "MESH:C536423", "NCIT:C121565", "SNOMEDCT:238874008", "medgen:140806"], "information_content": 100.0}
{"id": "MONDO:0958193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2", "equivalent_identifiers": ["MONDO:0958193", "OMIM:620425", "UMLS:C5830590", "medgen:1841226"], "information_content": 100.0}
{"id": "MONDO:0012738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 11", "equivalent_identifiers": ["MONDO:0012738", "DOID:0110652", "OMIM:611820", "UMLS:C2678483", "MESH:C567513", "NCIT:C192195", "medgen:437218"], "information_content": 100.0}
{"id": "MONDO:0800103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COACH syndrome 1", "equivalent_identifiers": ["MONDO:0800103", "OMIM:216360", "UMLS:C5435651", "medgen:1769861"], "information_content": 100.0}
{"id": "MONDO:0007218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A4", "equivalent_identifiers": ["MONDO:0007218", "DOID:0110967", "OMIM:112800", "orphanet:93394", "UMLS:C1862139", "MESH:C537097", "SNOMEDCT:715721005", "medgen:354669", "icd11.foundation:10379198", "HP:0031043"], "information_content": 100.0}
{"id": "HP:0005850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital talipes calcaneovalgus", "equivalent_identifiers": ["HP:0005850", "UMLS:C4551629", "MEDDRA:10043102", "SNOMEDCT:205083002"], "information_content": 100.0}
{"id": "HP:0100387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the middle phalanges of the toes", "equivalent_identifiers": ["HP:0100387", "UMLS:C4022107", "SNOMEDCT:1144680003"], "information_content": 89.4}
{"id": "MONDO:0032927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triokinase and FMN cyclase deficiency syndrome", "equivalent_identifiers": ["MONDO:0032927", "OMIM:618805", "UMLS:C5394125", "medgen:1710207"], "information_content": 100.0}
{"id": "MONDO:0008344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary edema of mountaineers, susceptibility to", "equivalent_identifiers": ["MONDO:0008344", "OMIM:178400", "EFO:1002002", "UMLS:C0340552", "MESH:C535833", "SNOMEDCT:233954004", "medgen:83314"], "information_content": 100.0}
{"id": "MONDO:0014789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CCDC115-CDG", "equivalent_identifiers": ["MONDO:0014789", "DOID:0070267", "OMIM:616828", "orphanet:468684", "UMLS:C4225191", "SNOMEDCT:1187174002", "medgen:906792"], "information_content": 100.0}
{"id": "MONDO:0010814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia-pseudohermaphroditism syndrome", "equivalent_identifiers": ["MONDO:0010814", "DOID:0060644", "OMIM:600092", "orphanet:1422", "UMLS:C1838654", "MESH:C536123", "SNOMEDCT:720851007", "medgen:333149"], "information_content": 100.0}
{"id": "HP:0005621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trapezoidal vertebral body", "equivalent_identifiers": ["HP:0005621", "UMLS:C4025171"], "information_content": 100.0}
{"id": "HP:0025681", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal clavicular thinning", "equivalent_identifiers": ["HP:0025681", "UMLS:C5676617"], "information_content": 100.0}
{"id": "MONDO:0957240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 24", "equivalent_identifiers": ["MONDO:0957240", "DOID:0081449", "OMIM:620342", "UMLS:C5830446", "medgen:1841082"], "information_content": 100.0}
{"id": "MONDO:0024526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zimmermann-Laband syndrome 1", "equivalent_identifiers": ["MONDO:0024526", "OMIM:135500", "UMLS:C4551773", "medgen:1639277"], "information_content": 100.0}
{"id": "MONDO:0013498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 15", "equivalent_identifiers": ["MONDO:0013498", "DOID:0070091", "OMIM:613950", "UMLS:C3151380", "medgen:462730"], "information_content": 100.0}
{"id": "MONDO:0013989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 14", "equivalent_identifiers": ["MONDO:0013989", "DOID:0080439", "OMIM:614959", "UMLS:C3554195", "NCIT:C188141", "medgen:767109"], "information_content": 100.0}
{"id": "HP:0032677", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized-onset motor seizure", "equivalent_identifiers": ["HP:0032677", "UMLS:C5779702", "MEDDRA:10083380", "MEDDRA:10083381"], "information_content": 82.1}
{"id": "HP:0011154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal autonomic seizure", "equivalent_identifiers": ["HP:0011154", "UMLS:C4023509", "SNOMEDCT:1281835000"], "information_content": 77.3}
{"id": "MONDO:0008871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic osteodysplastic primordial dwarfism type I", "equivalent_identifiers": ["MONDO:0008871", "DOID:0060608", "OMIM:210710", "UMLS:C1859452", "MESH:C537577", "SNOMEDCT:254102008", "medgen:347149"], "information_content": 100.0}
{"id": "HP:0009616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid first metacarpal", "equivalent_identifiers": ["HP:0009616", "UMLS:C4021423"], "information_content": 100.0}
{"id": "HP:0004616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft vertebral arch", "equivalent_identifiers": ["HP:0004616", "UMLS:C1859458"], "information_content": 100.0}
{"id": "HP:0006400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent knee epiphyses", "equivalent_identifiers": ["HP:0006400", "UMLS:C1859462"], "information_content": 100.0}
{"id": "MONDO:0010289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 72", "equivalent_identifiers": ["MONDO:0010289", "DOID:0112059", "OMIM:300271", "UMLS:C1846038", "MESH:C564547", "medgen:375793"], "information_content": 100.0}
{"id": "MONDO:0957388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune disease, multisystem, infantile-onset, 3", "equivalent_identifiers": ["MONDO:0957388", "OMIM:620430", "UMLS:C5830600", "medgen:1841236"], "information_content": 100.0}
{"id": "HP:0034797", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic hemophagocytosis", "equivalent_identifiers": ["HP:0034797", "UMLS:C5826669"], "information_content": 100.0}
{"id": "MONDO:0008734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenocortical carcinoma, hereditary", "equivalent_identifiers": ["MONDO:0008734", "OMIM:202300", "UMLS:C1859972", "UMLS:C1859973", "MESH:C565972", "MESH:C565973", "medgen:348508"], "information_content": 100.0}
{"id": "MONDO:0011274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muenke syndrome", "equivalent_identifiers": ["MONDO:0011274", "DOID:0060703", "OMIM:602849", "orphanet:53271", "UMLS:C1864436", "MESH:C537369", "MEDDRA:10088781", "NCIT:C84904", "SNOMEDCT:440350001", "SNOMEDCT:787407003", "medgen:355217", "icd11.foundation:1860572017"], "information_content": 100.0}
{"id": "HP:0006193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thimble-shaped middle phalanges of hand", "equivalent_identifiers": ["HP:0006193", "UMLS:C4025083"], "information_content": 100.0}
{"id": "MONDO:0013496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA nephropathy, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0013496", "OMIM:613944", "UMLS:C3151378", "medgen:462728"], "information_content": 100.0}
{"id": "MONDO:0032932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 18", "equivalent_identifiers": ["MONDO:0032932", "DOID:0070449", "OMIM:618811", "UMLS:C5394140", "medgen:1713890"], "information_content": 100.0}
{"id": "HP:6000335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary quinolinic acid level", "equivalent_identifiers": ["HP:6000335", "UMLS:C5937131"], "information_content": 100.0}
{"id": "MONDO:0957252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 50", "equivalent_identifiers": ["MONDO:0957252", "OMIM:620356", "UMLS:C5830473", "medgen:1841109"], "information_content": 100.0}
{"id": "MONDO:0030008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 42", "equivalent_identifiers": ["MONDO:0030008", "DOID:0112118", "OMIM:618839", "UMLS:C5394237", "medgen:1709379"], "information_content": 100.0}
{"id": "OMIM:616814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15", "equivalent_identifiers": ["OMIM:616814", "UMLS:C4225197"]}
{"id": "MONDO:0008760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-ketothiolase deficiency", "equivalent_identifiers": ["MONDO:0008760", "DOID:14723", "OMIM:203750", "orphanet:134", "UMLS:C1533628", "UMLS:C1536500", "MESH:C535434", "MESH:C535818", "MEDDRA:10067728", "NCIT:C98841", "SNOMEDCT:124258007", "SNOMEDCT:237953006", "SNOMEDCT:238067002", "medgen:280689"], "information_content": 100.0}
{"id": "HP:4000204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000204", "UMLS:C5872953"], "information_content": 100.0}
{"id": "HP:6000603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 2-methyl-3-hydroxybutyric acid level", "equivalent_identifiers": ["HP:6000603", "UMLS:C5937358"], "information_content": 100.0}
{"id": "MONDO:0032590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 8", "equivalent_identifiers": ["MONDO:0032590", "DOID:0080500", "OMIM:618187", "UMLS:C4748626", "medgen:1648455"], "information_content": 100.0}
{"id": "MONDO:0012030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 43", "equivalent_identifiers": ["MONDO:0012030", "DOID:0110568", "OMIM:608394", "UMLS:C1842108", "MESH:C564246", "medgen:330769"], "information_content": 100.0}
{"id": "MONDO:0009676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2B", "equivalent_identifiers": ["MONDO:0009676", "DOID:0110276", "OMIM:253601", "orphanet:268", "UMLS:C1850889", "MESH:C535899", "NCIT:C142080", "SNOMEDCT:718179003", "medgen:338149"], "information_content": 100.0}
{"id": "MONDO:0010773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial myopathy with diabetes", "equivalent_identifiers": ["MONDO:0010773", "OMIM:500002", "orphanet:2596", "UMLS:C1839028", "MESH:C564026", "medgen:333236"], "information_content": 100.0}
{"id": "HP:0012507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weakness of orbicularis oculi muscle", "equivalent_identifiers": ["HP:0012507", "UMLS:C1839030"], "information_content": 100.0}
{"id": "MONDO:0012733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive bestrophinopathy", "equivalent_identifiers": ["MONDO:0012733", "DOID:0050662", "OMIM:611809", "orphanet:139455", "UMLS:C2678493", "UMLS:C3888198", "MESH:C567518", "SNOMEDCT:723828008", "medgen:854806"], "information_content": 100.0}
{"id": "MONDO:0020750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2", "equivalent_identifiers": ["MONDO:0020750", "OMIM:618193", "UMLS:C4748657", "medgen:1648374"], "information_content": 100.0}
{"id": "HP:0012690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T2 hypointense thalamus", "equivalent_identifiers": ["HP:0012690", "UMLS:C4022776"], "information_content": 100.0}
{"id": "MONDO:0012024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 26", "equivalent_identifiers": ["MONDO:0012024", "DOID:0110368", "OMIM:608380", "UMLS:C1842127", "MESH:C564249", "medgen:333996"], "information_content": 100.0}
{"id": "MONDO:0007839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aase-Smith syndrome", "equivalent_identifiers": ["MONDO:0007839", "OMIM:147800", "orphanet:916", "UMLS:C0220686", "MESH:C535332", "SNOMEDCT:718576001", "medgen:66316"], "information_content": 100.0}
{"id": "HP:0006742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital neuroblastoma", "equivalent_identifiers": ["HP:0006742", "UMLS:C4024986"], "information_content": 100.0}
{"id": "MONDO:0011275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 1, Maroteaux type", "equivalent_identifiers": ["MONDO:0011275", "DOID:0080050", "OMIM:602875", "orphanet:40", "UMLS:C1864356", "MESH:C535661", "SNOMEDCT:718559000", "medgen:355199"], "information_content": 100.0}
{"id": "HP:0007516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Redundant skin on fingers", "equivalent_identifiers": ["HP:0007516", "UMLS:C4024856"], "information_content": 100.0}
{"id": "HP:0004633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower thoracic kyphosis", "equivalent_identifiers": ["HP:0004633", "UMLS:C1864361"], "information_content": 100.0}
{"id": "HP:0008484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracolumbar interpediculate narrowness", "equivalent_identifiers": ["HP:0008484", "UMLS:C1864364"], "information_content": 100.0}
{"id": "MONDO:0009273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydatidiform mole, recurrent, 1", "equivalent_identifiers": ["MONDO:0009273", "OMIM:231090", "UMLS:C2931618", "UMLS:C3463897", "MESH:D031901", "NCIT:C180633", "SNOMEDCT:416402001", "SNOMEDCT:609518007", "medgen:483038"], "information_content": 74.6}
{"id": "MONDO:0007103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 1", "equivalent_identifiers": ["MONDO:0007103", "DOID:0060193", "OMIM:105400", "UMLS:C1862939", "UMLS:C3542025", "MESH:C531617", "NCIT:C168749", "SNOMEDCT:1201863001", "medgen:400169", "ICD10:G12.2"], "information_content": 100.0}
{"id": "MONDO:0008245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "piebald trait-neurologic defects syndrome", "equivalent_identifiers": ["MONDO:0008245", "OMIM:172850", "orphanet:2885", "UMLS:C1868311", "MESH:C536955", "SNOMEDCT:773984007", "medgen:358177"], "information_content": 100.0}
{"id": "MONDO:0007856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma-esophageal carcinoma syndrome", "equivalent_identifiers": ["MONDO:0007856", "DOID:0111506", "OMIM:148500", "orphanet:2198", "UMLS:C0473572", "UMLS:C1835664", "MESH:C536164", "SNOMEDCT:111030006", "medgen:324338"], "information_content": 100.0}
{"id": "MONDO:0030549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 81", "equivalent_identifiers": ["MONDO:0030549", "DOID:0070608", "OMIM:619500", "UMLS:C5561972", "medgen:1794182"], "information_content": 100.0}
{"id": "MONDO:0011660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 22", "equivalent_identifiers": ["MONDO:0011660", "DOID:0110552", "OMIM:606346", "UMLS:C2931767", "UMLS:C3149009", "MESH:C538197", "medgen:419894"], "information_content": 100.0}
{"id": "MONDO:0008500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "striae distensae, familial", "equivalent_identifiers": ["MONDO:0008500", "OMIM:185200", "UMLS:C1861447", "MESH:C566104", "medgen:348875"], "information_content": 100.0}
{"id": "MONDO:0014511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2S", "equivalent_identifiers": ["MONDO:0014511", "DOID:0110171", "OMIM:616155", "orphanet:443073", "UMLS:C4015349", "SNOMEDCT:1187617004", "medgen:863786"], "information_content": 100.0}
{"id": "MONDO:0032582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 19", "equivalent_identifiers": ["MONDO:0032582", "DOID:0080394", "OMIM:618178", "UMLS:C4748552", "medgen:1648305"], "information_content": 100.0}
{"id": "MONDO:0010203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, Wolff type", "equivalent_identifiers": ["MONDO:0010203", "OMIM:277990", "orphanet:3080", "UMLS:C1848439", "MESH:C537448", "SNOMEDCT:763745005", "medgen:336345"], "information_content": 100.0}
{"id": "MONDO:0013878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1", "equivalent_identifiers": ["MONDO:0013878", "OMIM:614742", "EFO:1001501", "UMLS:C3553617", "medgen:766531"], "information_content": 100.0}
{"id": "MONDO:0013886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar dysfunction with variable cognitive and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0013886", "DOID:0050998", "OMIM:614756", "orphanet:314647", "UMLS:C3553661", "UMLS:C4509917", "SNOMEDCT:723441001", "medgen:766575"], "information_content": 100.0}
{"id": "HP:0007015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor gross motor coordination", "equivalent_identifiers": ["HP:0007015", "UMLS:C0556280", "UMLS:C1867863", "SNOMEDCT:228147004"], "information_content": 100.0}
{"id": "MONDO:0011201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 2", "equivalent_identifiers": ["MONDO:0011201", "DOID:0111429", "OMIM:602134", "UMLS:C1865810", "MESH:C536546", "medgen:356087"], "information_content": 100.0}
{"id": "MONDO:0030997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 37", "equivalent_identifiers": ["MONDO:0030997", "OMIM:619272", "UMLS:C5543281", "medgen:1783339"], "information_content": 100.0}
{"id": "MONDO:0007518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "edema, familial idiopathic, prepubertal", "equivalent_identifiers": ["MONDO:0007518", "OMIM:129840", "UMLS:C1851847", "MESH:C565063", "medgen:377535"], "information_content": 100.0}
{"id": "MONDO:0009287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to glucose-6-phosphatase deficiency type IA", "equivalent_identifiers": ["MONDO:0009287", "DOID:2749", "OMIM:232200", "orphanet:79258", "UMLS:C2919796", "MESH:C538655", "MEDDRA:10056911", "NCIT:C162398", "SNOMEDCT:444707001", "medgen:415885"], "information_content": 100.0}
{"id": "MONDO:0012456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital primary aphakia", "equivalent_identifiers": ["MONDO:0012456", "DOID:0080607", "DOID:11367", "OMIM:610256", "orphanet:83461", "UMLS:C0152422", "UMLS:C1853230", "MESH:C537786", "MEDDRA:10002947", "MEDDRA:10010372", "NCIT:C35172", "SNOMEDCT:35387008", "medgen:339935", "icd11.foundation:885383581", "ICD10:Q12.3", "ICD9:743.35", "HP:0007707"], "information_content": 95.4}
{"id": "HP:0007779", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior segment of eye aplasia", "equivalent_identifiers": ["HP:0007779", "UMLS:C1853234"], "information_content": 100.0}
{"id": "MONDO:0009367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "McKusick-Kaufman syndrome", "equivalent_identifiers": ["MONDO:0009367", "DOID:0111255", "OMIM:236700", "orphanet:2473", "UMLS:C0948368", "MESH:C538159", "MEDDRA:10052312", "SNOMEDCT:702407009", "medgen:184924"], "information_content": 100.0}
{"id": "OMIM:613987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2", "equivalent_identifiers": ["OMIM:613987", "UMLS:C3151441", "NCIT:C176926"], "information_content": 100.0}
{"id": "MONDO:0009306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency with skin granulomas", "equivalent_identifiers": ["MONDO:0009306", "DOID:0112253", "OMIM:233650", "orphanet:157949", "UMLS:C2673536", "MESH:C567115", "medgen:435945"], "information_content": 100.0}
{"id": "MONDO:0032838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies", "equivalent_identifiers": ["MONDO:0032838", "OMIM:618622", "orphanet:664923", "EFO:0010631", "UMLS:C5231431", "medgen:1684840"], "information_content": 100.0}
{"id": "HP:0011913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbar hypertrichosis", "equivalent_identifiers": ["HP:0011913", "UMLS:C4023130"], "information_content": 100.0}
{"id": "OMIM:612469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome", "equivalent_identifiers": ["OMIM:612469", "UMLS:C2675904", "MESH:C567292", "NCIT:C122804"], "information_content": 100.0}
{"id": "MONDO:0011517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohyperaldosteronism type 2", "equivalent_identifiers": ["MONDO:0011517", "OMIM:605115", "orphanet:88660", "UMLS:C1854631", "UMLS:C4707886", "MESH:C565359", "SNOMEDCT:766937004", "medgen:343170", "icd11.foundation:538048714"], "information_content": 100.0}
{"id": "MONDO:0009865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dimauro disease", "equivalent_identifiers": ["MONDO:0009865", "OMIM:261670", "orphanet:97234", "UMLS:C0268149", "UMLS:C1291618", "MESH:C536176", "NCIT:C131647", "SNOMEDCT:124676006", "SNOMEDCT:61772003", "medgen:120613"], "information_content": 100.0}
{"id": "MONDO:0013526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy type 6", "equivalent_identifiers": ["MONDO:0013526", "DOID:0111449", "OMIM:614018", "orphanet:280620", "UMLS:C5190805", "SNOMEDCT:783062001", "medgen:1681379", "icd11.foundation:878291417"], "information_content": 100.0}
{"id": "MONDO:0013081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ITK Deficiency", "equivalent_identifiers": ["MONDO:0013081", "DOID:0060707", "OMIM:613011", "orphanet:538963", "UMLS:C2751686", "UMLS:C3552634", "UMLS:C4283841", "MESH:C567815", "NCIT:C126344", "SNOMEDCT:1186714005", "medgen:765548", "ICD10:D47.9"], "information_content": 100.0}
{"id": "MONDO:0009007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jalili syndrome", "equivalent_identifiers": ["MONDO:0009007", "DOID:0111404", "OMIM:217080", "orphanet:1873", "UMLS:C3495589", "MESH:C000596385", "SNOMEDCT:707608003", "medgen:501210"], "information_content": 100.0}
{"id": "MONDO:0012184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pierson syndrome", "equivalent_identifiers": ["MONDO:0012184", "DOID:0060852", "OMIM:609049", "orphanet:2670", "UMLS:C1836876", "MESH:C537185", "NCIT:C128145", "SNOMEDCT:723449004", "medgen:373199", "icd11.foundation:555082533"], "information_content": 100.0}
{"id": "HP:0011502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior lenticonus", "equivalent_identifiers": ["HP:0011502", "UMLS:C0344263", "SNOMEDCT:95482000"], "information_content": 100.0}
{"id": "HP:0007774", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the ciliary body", "equivalent_identifiers": ["HP:0007774", "UMLS:C1836890"], "information_content": 95.4}
{"id": "MONDO:0029141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome, type 4", "equivalent_identifiers": ["MONDO:0029141", "OMIM:618144", "UMLS:C4748364", "medgen:1648315"], "information_content": 100.0}
{"id": "MONDO:0019407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type", "equivalent_identifiers": ["MONDO:0019407", "DOID:0111673", "OMIM:618150", "orphanet:85172", "UMLS:C1300285", "medgen:722057", "icd11.foundation:738688839"], "information_content": 100.0}
{"id": "HP:0006442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of proximal fibula", "equivalent_identifiers": ["HP:0006442", "UMLS:C1859478"], "information_content": 100.0}
{"id": "MONDO:0013077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Santos syndrome", "equivalent_identifiers": ["MONDO:0013077", "OMIM:613005", "UMLS:C2751698", "MESH:C567819", "medgen:414444"], "information_content": 100.0}
{"id": "MONDO:0014200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aldosterone-producing adenoma with seizures and neurological abnormalities", "equivalent_identifiers": ["MONDO:0014200", "OMIM:615474", "orphanet:369929", "UMLS:C3809609", "NCIT:C188151", "medgen:815939"], "information_content": 100.0}
{"id": "MONDO:0001422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conn's syndrome", "equivalent_identifiers": ["MONDO:0001422", "DOID:12028", "UMLS:C1384514", "MEDDRA:10010758", "MEDDRA:10036692", "NCIT:C34510", "SNOMEDCT:190507007", "SNOMEDCT:258117004", "medgen:278002", "ICD10:E26.01", "ICD9:255.12", "HP:0011736"], "information_content": 84.8}
{"id": "MONDO:0014127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 5", "equivalent_identifiers": ["MONDO:0014127", "DOID:0070099", "OMIM:615312", "orphanet:370091", "UMLS:C3888401", "SNOMEDCT:722057000", "medgen:854888"], "information_content": 100.0}
{"id": "MONDO:0013411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 16 multiple types", "equivalent_identifiers": ["MONDO:0013411", "DOID:0110250", "OMIM:613763", "UMLS:C3151065", "UMLS:C3808377", "MESH:C565134", "medgen:814707"], "information_content": 92.8}
{"id": "MONDO:0008334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 1", "equivalent_identifiers": ["MONDO:0008334", "DOID:0111286", "OMIM:177900", "UMLS:C1867449", "medgen:357279"], "information_content": 100.0}
{"id": "MONDO:0030439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 57", "equivalent_identifiers": ["MONDO:0030439", "DOID:0112338", "OMIM:619528", "UMLS:C5561988", "medgen:1794198"], "information_content": 100.0}
{"id": "MONDO:0011670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "equivalent_identifiers": ["MONDO:0011670", "DOID:0080731", "OMIM:606408", "orphanet:230839", "UMLS:C1848029", "MESH:C536193", "SNOMEDCT:778022009", "medgen:336244", "icd11.foundation:1840696236"], "information_content": 100.0}
{"id": "HP:0031655", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quadricuspid aortic valve", "equivalent_identifiers": ["HP:0031655", "UMLS:C0345002", "SNOMEDCT:253611000", "MESH:D000082902"], "information_content": 100.0}
{"id": "NCBIGene:5444", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PON1", "equivalent_identifiers": ["NCBIGene:5444", "ENSEMBL:ENSG00000005421", "HGNC:9204", "OMIM:168820", "UMLS:C1418754", "UniProtKB:P27169", "PR:P27169", "ENSEMBL:ENSP00000222381", "ENSEMBL:ENSP00000222381.3", "UMLS:C1257646", "MESH:C468406"], "information_content": 80.6}
{"id": "MONDO:0012634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial dysplasia - osteopenia syndrome", "equivalent_identifiers": ["MONDO:0012634", "OMIM:611174", "orphanet:314555", "UMLS:C1970027", "MESH:C566988", "SNOMEDCT:773622005", "medgen:370148"], "information_content": 100.0}
{"id": "MONDO:0014618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 71", "equivalent_identifiers": ["MONDO:0014618", "DOID:0110363", "OMIM:616394", "UMLS:C4225342", "medgen:897209"], "information_content": 100.0}
{"id": "MONDO:0010242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal akinesia syndrome, X-linked", "equivalent_identifiers": ["MONDO:0010242", "DOID:0081043", "OMIM:300073", "UMLS:C1848171", "MESH:C537921", "medgen:341166"], "information_content": 100.0}
{"id": "MONDO:0013812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Baraitser-winter syndrome 2", "equivalent_identifiers": ["MONDO:0013812", "DOID:0081113", "OMIM:614583", "UMLS:C3281235", "medgen:482865"], "information_content": 100.0}
{"id": "MONDO:0859330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 13", "equivalent_identifiers": ["MONDO:0859330", "OMIM:620154", "UMLS:C5774268", "medgen:1824041"], "information_content": 100.0}
{"id": "MONDO:0008043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonus-cerebellar ataxia-deafness syndrome", "equivalent_identifiers": ["MONDO:0008043", "OMIM:159800", "orphanet:2589", "UMLS:C1834579", "MESH:C563549", "medgen:331780"], "information_content": 100.0}
{"id": "MONDO:0009874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rabson-Mendenhall syndrome", "equivalent_identifiers": ["MONDO:0009874", "OMIM:262190", "orphanet:769", "UMLS:C0271695", "MEDDRA:10088742", "NCIT:C131000", "SNOMEDCT:33559001", "medgen:78783", "icd11.foundation:1018973126"], "information_content": 100.0}
{"id": "HP:0012542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychauxis", "equivalent_identifiers": ["HP:0012542", "UMLS:C0263536", "MEDDRA:10028700", "MEDDRA:10078981", "SNOMEDCT:30654002"], "information_content": 100.0}
{"id": "MONDO:0054765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, primary localized cutaneous, 3", "equivalent_identifiers": ["MONDO:0054765", "OMIM:617920", "UMLS:C4554421", "medgen:1640641"], "information_content": 100.0}
{"id": "HP:0007440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hyperpigmentation", "equivalent_identifiers": ["HP:0007440", "UMLS:C4024878"], "information_content": 92.8}
{"id": "MONDO:0012124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sudden infant death-dysgenesis of the testes syndrome", "equivalent_identifiers": ["MONDO:0012124", "OMIM:608800", "orphanet:168593", "UMLS:C1837371", "MESH:C563856", "SNOMEDCT:711157000", "medgen:332428"], "information_content": 100.0}
{"id": "HP:0008708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial development of the penile shaft", "equivalent_identifiers": ["HP:0008708", "UMLS:C1837379"], "information_content": 100.0}
{"id": "HP:0025431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Staccato cry", "equivalent_identifiers": ["HP:0025431", "UMLS:C4476772"], "information_content": 100.0}
{"id": "HP:0008733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic testes", "equivalent_identifiers": ["HP:0008733", "UMLS:C1837380"], "information_content": 100.0}
{"id": "MONDO:0021533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal neuroendocrine tumor G1", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0021533", "OMIM:114900", "UMLS:C0349535", "MESH:C562842", "NCIT:C4637", "SNOMEDCT:276816003", "medgen:138099"], "information_content": 80.9}
{"id": "HP:0006723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intestinal carcinoid", "equivalent_identifiers": ["HP:0006723", "UMLS:C4024988"], "information_content": 100.0}
{"id": "MONDO:0014370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 2E", "equivalent_identifiers": ["MONDO:0014370", "DOID:0060271", "OMIM:615851", "UMLS:C4014488", "medgen:862925"], "information_content": 100.0}
{"id": "MONDO:0957981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 115 with autoinflammation", "equivalent_identifiers": ["MONDO:0957981", "DOID:0061081", "OMIM:620632", "UMLS:C5882724", "medgen:1847791"], "information_content": 100.0}
{"id": "HP:0032183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased memory T cell proportion", "equivalent_identifiers": ["HP:0032183", "UMLS:C5139180"], "information_content": 87.2}
{"id": "HP:0031190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superficial dermal perivascular inflammatory infiltrate", "equivalent_identifiers": ["HP:0031190", "UMLS:C4531290"], "information_content": 100.0}
{"id": "HP:0020180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated haptoglobin level", "equivalent_identifiers": ["HP:0020180", "UMLS:C5209263"], "information_content": 100.0}
{"id": "MONDO:0010239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly type 1 due to doublecortin gene mutation", "equivalent_identifiers": ["MONDO:0010239", "DOID:0112239", "OMIM:300067", "orphanet:2148", "UMLS:C1848070", "UMLS:C1848200", "UMLS:C4275012", "UMLS:C4551968", "MESH:C531731", "MESH:C564722", "SNOMEDCT:715780008", "medgen:1644310", "icd11.foundation:891064255"], "information_content": 100.0}
{"id": "MONDO:0014382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tatton-Brown-Rahman overgrowth syndrome", "equivalent_identifiers": ["MONDO:0014382", "DOID:0112339", "OMIM:615879", "orphanet:404443", "UMLS:C4014545", "SNOMEDCT:768843007", "medgen:862982"], "information_content": 100.0}
{"id": "MONDO:0008076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic neuralgia", "equivalent_identifiers": ["MONDO:0008076", "DOID:10383", "OMIM:162100", "UMLS:C1834304", "SNOMEDCT:26609002", "medgen:320318", "ICD10:G54.5", "ICD9:353.5"], "information_content": 100.0}
{"id": "MONDO:0006683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachial plexus neuropathy", "equivalent_identifiers": ["MONDO:0006683", "DOID:3690", "EFO:1000844", "UMLS:C0700251", "MESH:D020516", "MEDDRA:10065417", "NCIT:C27194", "SNOMEDCT:3548001", "medgen:148580", "HP:0045054"], "information_content": 83.6}
{"id": "OMIM:621262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 22", "equivalent_identifiers": ["OMIM:621262"]}
{"id": "HP:0009625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpophalangeal thumb joint contracture", "equivalent_identifiers": ["HP:0009625", "UMLS:C2108151"], "information_content": 100.0}
{"id": "HP:0025802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Talipes varus", "equivalent_identifiers": ["HP:0025802"], "information_content": 100.0}
{"id": "HP:0032188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cellular hypersensitivity to mitomycin C", "equivalent_identifiers": ["HP:0032188", "UMLS:C5139183"], "information_content": 100.0}
{"id": "HP:6000942", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thumb hypoplasia grade 4", "equivalent_identifiers": ["HP:6000942", "UMLS:C5970291"], "information_content": 100.0}
{"id": "MONDO:0008154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteomas of mandible", "equivalent_identifiers": ["MONDO:0008154", "OMIM:166400", "UMLS:C1833733", "MESH:C563485", "medgen:318953"], "information_content": 100.0}
{"id": "HP:0000277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mandible morphology", "equivalent_identifiers": ["HP:0000277", "UMLS:C4025870"], "information_content": 69.8}
{"id": "MONDO:0007748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercalciuria, absorptive, 2", "equivalent_identifiers": ["MONDO:0007748", "OMIM:143870", "UMLS:C0342639", "MESH:C562790", "SNOMEDCT:237886009", "medgen:137974"], "information_content": 100.0}
{"id": "MONDO:0009039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Baller-Gerold syndrome", "equivalent_identifiers": ["MONDO:0009039", "DOID:0050654", "OMIM:218600", "orphanet:1225", "UMLS:C0265308", "MESH:C536788", "MEDDRA:10083963", "SNOMEDCT:77608001", "medgen:120532", "icd11.foundation:1650688177"], "information_content": 100.0}
{"id": "HP:0005886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aphalangy of the hands", "equivalent_identifiers": ["HP:0005886", "UMLS:C4025114"], "information_content": 95.4}
{"id": "MONDO:0009715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonia congenita, autosomal recessive", "equivalent_identifiers": ["MONDO:0009715", "OMIM:255700", "UMLS:C0751360", "SNOMEDCT:20305008", "medgen:155852"], "information_content": 100.0}
{"id": "HP:0008968", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle hypertrophy of the lower extremities", "equivalent_identifiers": ["HP:0008968", "UMLS:C1850663"], "information_content": 92.8}
{"id": "MONDO:0030968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 76", "equivalent_identifiers": ["MONDO:0030968", "DOID:0081235", "OMIM:619931", "UMLS:C5677007", "medgen:1808571"], "information_content": 100.0}
{"id": "MONDO:0012581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 8", "equivalent_identifiers": ["MONDO:0012581", "DOID:0110336", "OMIM:610915", "UMLS:C1970458", "MESH:C536049", "medgen:410075"], "information_content": 100.0}
{"id": "HP:0003784", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type 1 collagen overmodification", "equivalent_identifiers": ["HP:0003784", "UMLS:C1970463"], "information_content": 100.0}
{"id": "MONDO:0009617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 1, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0009617", "DOID:0070285", "OMIM:251200", "UMLS:C1855081", "MESH:C565384", "medgen:344415"], "information_content": 100.0}
{"id": "HP:0003451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased rate of premature chromosome condensation", "equivalent_identifiers": ["HP:0003451", "UMLS:C4025613"], "information_content": 100.0}
{"id": "MONDO:0009354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylcobalamin deficiency type cblE", "equivalent_identifiers": ["MONDO:0009354", "DOID:0050732", "DOID:0112255", "OMIM:236270", "orphanet:2169", "EFO:0005568", "UMLS:C1856057", "MESH:C565510", "NCIT:C142173", "SNOMEDCT:1296847007", "medgen:344640"], "information_content": 100.0}
{"id": "MONDO:0014884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 5", "equivalent_identifiers": ["MONDO:0014884", "DOID:0070225", "OMIM:617049", "orphanet:480476", "UMLS:C4310747", "medgen:934714"], "information_content": 100.0}
{"id": "MONDO:0014603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 40", "equivalent_identifiers": ["MONDO:0014603", "DOID:0110566", "OMIM:616357", "UMLS:C4084708", "medgen:896665"], "information_content": 100.0}
{"id": "MONDO:0033655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 20", "equivalent_identifiers": ["MONDO:0033655", "DOID:0070505", "OMIM:619064", "UMLS:C5436726", "medgen:1771040"], "information_content": 100.0}
{"id": "MONDO:0859222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 12, autosomal", "equivalent_identifiers": ["MONDO:0859222", "DOID:0051026", "OMIM:619702", "UMLS:C5676898", "medgen:1803695"], "information_content": 100.0}
{"id": "HP:0011556", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double inlet right ventricle", "equivalent_identifiers": ["HP:0011556", "UMLS:C0344621", "SNOMEDCT:253282005"], "information_content": 100.0}
{"id": "HP:0011640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single coronary artery origin", "equivalent_identifiers": ["HP:0011640", "UMLS:C4023251"], "information_content": 100.0}
{"id": "MONDO:0859342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 30, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0859342", "DOID:0051041", "OMIM:620183", "UMLS:C5774280", "medgen:1824053"], "information_content": 100.0}
{"id": "MONDO:0013642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 11", "equivalent_identifiers": ["MONDO:0013642", "DOID:0110877", "OMIM:614226", "UMLS:C3280215", "medgen:481845"], "information_content": 100.0}
{"id": "MONDO:0012983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 12", "equivalent_identifiers": ["MONDO:0012983", "DOID:0111019", "OMIM:612657", "UMLS:C2675210", "MESH:C567206", "medgen:393334"], "information_content": 100.0}
{"id": "MONDO:0011225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to DCLRE1C deficiency", "equivalent_identifiers": ["MONDO:0011225", "DOID:0090012", "OMIM:602450", "orphanet:275", "UMLS:C1865370", "UMLS:C1865371", "UMLS:C1865373", "MESH:C536786", "MESH:C537589", "NCIT:C162694", "SNOMEDCT:715982006", "medgen:355454", "ICD10:D81.1"], "information_content": 100.0}
{"id": "HP:0030813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent tonsils", "equivalent_identifiers": ["HP:0030813", "UMLS:C0576999", "SNOMEDCT:249393008", "SNOMEDCT:300277007"], "information_content": 100.0}
{"id": "MONDO:0012975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 3B", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0012975", "DOID:0110565", "OMIM:612643", "UMLS:C2675237", "MESH:C567215", "medgen:436382"], "information_content": 100.0}
{"id": "MONDO:0014634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 10", "equivalent_identifiers": ["MONDO:0014634", "DOID:0111775", "OMIM:616425", "UMLS:C4225331", "medgen:897538"], "information_content": 100.0}
{"id": "MONDO:0859353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 49, without situs inversus", "equivalent_identifiers": ["MONDO:0859353", "OMIM:620197", "UMLS:C5774291", "medgen:1824064"], "information_content": 100.0}
{"id": "MONDO:0008404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scalp-ear-nipple syndrome", "equivalent_identifiers": ["MONDO:0008404", "DOID:0111550", "OMIM:181270", "orphanet:2036", "UMLS:C1867020", "MESH:C536623", "SNOMEDCT:721888002", "medgen:357183", "icd11.foundation:88843032"], "information_content": 100.0}
{"id": "HP:0011251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Underdeveloped antitragus", "equivalent_identifiers": ["HP:0011251", "UMLS:C4021186"], "information_content": 100.0}
{"id": "MONDO:0008547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thanatophoric dysplasia type 2", "equivalent_identifiers": ["MONDO:0008547", "OMIM:187601", "orphanet:93274", "UMLS:C1300257", "MESH:C536508", "NCIT:C98584", "SNOMEDCT:389158007", "medgen:226975"], "information_content": 95.4}
{"id": "MONDO:0014388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial median cleft of the upper and lower lips", "equivalent_identifiers": ["MONDO:0014388", "DOID:0080407", "OMIM:615892", "orphanet:401942", "UMLS:C4014596", "medgen:863033"], "information_content": 100.0}
{"id": "MONDO:0032690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, growth deficiency, seizures, and brain malformations", "equivalent_identifiers": ["MONDO:0032690", "DOID:0081051", "OMIM:618346", "UMLS:C5193042", "medgen:1676229"], "information_content": 100.0}
{"id": "OMIM:617075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3", "equivalent_identifiers": ["OMIM:617075", "UMLS:C4310729"]}
{"id": "MONDO:0033649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 4 deficiency, nuclear type 14", "equivalent_identifiers": ["MONDO:0033649", "DOID:0070499", "OMIM:619058", "UMLS:C5436710", "medgen:1763505"], "information_content": 100.0}
{"id": "MONDO:0013312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 55", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0013312", "DOID:0110370", "OMIM:613575", "UMLS:C3150808", "medgen:462158"], "information_content": 100.0}
{"id": "MONDO:0007983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schmid metaphyseal chondrodysplasia", "equivalent_identifiers": ["MONDO:0007983", "DOID:0080021", "OMIM:156500", "orphanet:174", "UMLS:C0265289", "MESH:C537352", "SNOMEDCT:29248006", "medgen:78550"], "information_content": 100.0}
{"id": "HP:0006431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal proximal femoral metaphysis morphology", "equivalent_identifiers": ["HP:0006431", "UMLS:C4025047"], "information_content": 92.8}
{"id": "HP:0006414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal tibial bowing", "equivalent_identifiers": ["HP:0006414", "UMLS:C4021598"], "information_content": 100.0}
{"id": "MONDO:0032739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 36", "equivalent_identifiers": ["MONDO:0032739", "DOID:0111921", "OMIM:618420", "UMLS:C5193086", "medgen:1678385"], "information_content": 100.0}
{"id": "MONDO:0054677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 33", "equivalent_identifiers": ["MONDO:0054677", "DOID:0111495", "OMIM:617713", "EFO:0009159", "UMLS:C4540209", "NCIT:C174440", "medgen:1623699"], "information_content": 100.0}
{"id": "MONDO:0012657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mungan syndrome", "equivalent_identifiers": ["MONDO:0012657", "OMIM:611376", "UMLS:C1969653", "MESH:C548078", "medgen:369554"], "information_content": 100.0}
{"id": "HP:0002270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the autonomic nervous system", "equivalent_identifiers": ["HP:0002270", "UMLS:C4025714"], "information_content": 67.5}
{"id": "MONDO:0032749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 94", "equivalent_identifiers": ["MONDO:0032749", "DOID:0111641", "OMIM:618434", "UMLS:C5193096", "medgen:1679077"], "information_content": 100.0}
{"id": "MONDO:0054727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 23", "equivalent_identifiers": ["MONDO:0054727", "DOID:0070181", "OMIM:617707", "UMLS:C4540185", "medgen:1626589"], "information_content": 100.0}
{"id": "MONDO:0012077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 8", "equivalent_identifiers": ["MONDO:0012077", "DOID:0050752", "OMIM:608627", "UMLS:C1837728", "MESH:C563895", "NCIT:C168751", "SNOMEDCT:1204350002", "medgen:325237"], "information_content": 100.0}
{"id": "MONDO:0013307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, lactic acidosis, and sideroblastic anemia 2", "equivalent_identifiers": ["MONDO:0013307", "DOID:0111186", "OMIM:613561", "UMLS:C3150802", "medgen:462152"], "information_content": 100.0}
{"id": "MONDO:0012803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea-vomiting due to trehalase deficiency", "equivalent_identifiers": ["MONDO:0012803", "OMIM:612119", "orphanet:103909", "UMLS:C0268187", "MESH:C562603", "SNOMEDCT:84193000", "medgen:75660", "icd11.foundation:2025219157"], "information_content": 100.0}
{"id": "MONDO:0022113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central centrifugal cicatricial alopecia", "equivalent_identifiers": ["MONDO:0022113", "OMIM:618352", "UMLS:C1274708", "SNOMEDCT:109441000119102", "medgen:698033"], "information_content": 100.0}
{"id": "MONDO:0014892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014892", "DOID:0070074", "OMIM:617061", "orphanet:476126", "UMLS:C4310740", "medgen:934707"], "information_content": 100.0}
{"id": "MONDO:0971013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class II deficiency 2", "equivalent_identifiers": ["MONDO:0971013", "OMIM:620815", "UMLS:C1859535", "medgen:347904"], "information_content": 100.0}
{"id": "HP:0033431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cytomegalovirus colitis", "equivalent_identifiers": ["HP:0033431", "NCIT:C35402", "UMLS:C0341335", "MEDDRA:10048983", "MEDDRA:10051359", "SNOMEDCT:235749000"], "information_content": 100.0}
{"id": "MONDO:0013252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warsaw breakage syndrome", "equivalent_identifiers": ["MONDO:0013252", "DOID:0060535", "OMIM:613398", "orphanet:280558", "UMLS:C3150658", "NCIT:C164675", "SNOMEDCT:702829000", "medgen:462008", "icd11.foundation:833375162"], "information_content": 100.0}
{"id": "MONDO:0009815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 1", "equivalent_identifiers": ["MONDO:0009815", "DOID:0110942", "OMIM:259700", "UMLS:C1850127", "UMLS:C4551971", "MESH:C564915", "NCIT:C167215", "medgen:376708"], "information_content": 100.0}
{"id": "MONDO:0013050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal polymalformative syndrome, Boissel type", "equivalent_identifiers": ["MONDO:0013050", "OMIM:612938", "orphanet:210144", "UMLS:C2752001", "MESH:C567856", "medgen:414158"], "information_content": 100.0}
{"id": "MONDO:0013729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pregnancy loss, recurrent, susceptibility to, 3", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0013729", "OMIM:614391", "UMLS:C3280674", "medgen:482304"], "information_content": 100.0}
{"id": "MONDO:0014702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive complex spastic paraplegia type 9B", "equivalent_identifiers": ["MONDO:0014702", "DOID:0110825", "OMIM:616586", "orphanet:447760", "UMLS:C5568980", "SNOMEDCT:1187467000", "medgen:1800403"], "information_content": 100.0}
{"id": "MONDO:0044724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 9", "equivalent_identifiers": ["MONDO:0044724", "DOID:0070002", "OMIM:617698", "orphanet:505216", "UMLS:C4540171", "SNOMEDCT:1222672002", "medgen:1622927"], "information_content": 100.0}
{"id": "MONDO:0010395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phosphoribosylpyrophosphate synthetase superactivity", "equivalent_identifiers": ["MONDO:0010395", "DOID:0111260", "OMIM:300661", "orphanet:3222", "UMLS:C1970827", "MESH:C567064", "SNOMEDCT:723454008", "medgen:370358"], "information_content": 92.8}
{"id": "HP:0003240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased phosphoribosylpyrophosphate synthetase level", "equivalent_identifiers": ["HP:0003240", "UMLS:C4025637"], "information_content": 100.0}
{"id": "MONDO:0014704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome", "equivalent_identifiers": ["MONDO:0014704", "OMIM:616592", "orphanet:477831", "UMLS:C4225270", "MEDDRA:10081313", "SNOMEDCT:1172898008", "medgen:896409"], "information_content": 100.0}
{"id": "MONDO:0030922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 56", "equivalent_identifiers": ["MONDO:0030922", "DOID:0080226", "OMIM:617854", "UMLS:C4693389", "medgen:1638835"], "information_content": 100.0}
{"id": "HP:0031843", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bradyphrenia", "equivalent_identifiers": ["HP:0031843", "NCIT:C182449", "UMLS:C0554976", "MEDDRA:10006103", "MEDDRA:10041049", "MEDDRA:10043437", "MEDDRA:10043438", "MEDDRA:10050012", "MEDDRA:10083255", "SNOMEDCT:285242009"], "information_content": 100.0}
{"id": "MONDO:0030819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meckel syndrome 14", "equivalent_identifiers": ["MONDO:0030819", "OMIM:619879", "UMLS:C5676989", "medgen:1809650"], "information_content": 100.0}
{"id": "MONDO:0010759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wildervanck syndrome", "equivalent_identifiers": ["MONDO:0010759", "OMIM:314600", "orphanet:3456", "UMLS:C0265239", "MEDDRA:10069402", "SNOMEDCT:79665007", "medgen:120518"], "information_content": 100.0}
{"id": "OMIM:614385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Colorectal Cancer, Hereditary Nonpolyposis, Type 7", "equivalent_identifiers": ["OMIM:614385", "UMLS:C1858380", "MESH:C565777"]}
{"id": "MONDO:0007397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniometaphyseal dysplasia, autosomal dominant", "equivalent_identifiers": ["MONDO:0007397", "DOID:0080801", "OMIM:123000", "UMLS:C1852502", "MESH:C565145", "medgen:338945"], "information_content": 100.0}
{"id": "HP:0031428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating osteocalcin level", "equivalent_identifiers": ["HP:0031428", "UMLS:C4531126"], "information_content": 100.0}
{"id": "HP:0011386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow internal auditory canal", "equivalent_identifiers": ["HP:0011386", "UMLS:C4023383"], "information_content": 100.0}
{"id": "HP:0012370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominence of the zygomatic bone", "equivalent_identifiers": ["HP:0012370", "UMLS:C0375511", "UMLS:C1997760", "UMLS:C4082245", "MEDDRA:10048287", "SNOMEDCT:427888001"], "information_content": 100.0}
{"id": "HP:6001071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incus ankylosis", "equivalent_identifiers": ["HP:6001071", "UMLS:C5970394"], "information_content": 100.0}
{"id": "MONDO:0014403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature due to GHSR deficiency", "equivalent_identifiers": ["MONDO:0014403", "OMIM:615925", "orphanet:314811", "UMLS:C4707848", "UMLS:C5887324", "SNOMEDCT:766817004", "medgen:1857733"], "information_content": 100.0}
{"id": "MONDO:0958278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and characteristic brain abnormalities", "equivalent_identifiers": ["MONDO:0958278", "OMIM:620746", "orphanet:664430", "UMLS:C5935589", "medgen:1855201"], "information_content": 100.0}
{"id": "HP:6000989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slit-like lateral ventricle", "equivalent_identifiers": ["HP:6000989", "UMLS:C5970332"], "information_content": 100.0}
{"id": "MONDO:0010894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 3", "equivalent_identifiers": ["MONDO:0010894", "DOID:0111102", "OMIM:600496", "UMLS:C1838100", "MESH:C563933", "NCIT:C129742", "SNOMEDCT:609570008", "medgen:324942"], "information_content": 100.0}
{"id": "MONDO:0100531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy 1, X-linked", "equivalent_identifiers": ["MONDO:0100531", "DOID:0070246", "OMIM:310300", "UMLS:C2930996", "UMLS:C5243475", "MESH:C535734", "NCIT:C168730", "medgen:1720295"], "information_content": 100.0}
{"id": "MONDO:0024524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyschromatosis universalis hereditaria 1", "equivalent_identifiers": ["MONDO:0024524", "OMIM:127500", "UMLS:C2675711", "MESH:C567273", "medgen:390864"], "information_content": 100.0}
{"id": "MONDO:0008750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-albinism-digital anomalies syndrome", "equivalent_identifiers": ["MONDO:0008750", "OMIM:203340", "orphanet:2513", "UMLS:C1859910", "MESH:C537322", "SNOMEDCT:719377004", "medgen:395372"], "information_content": 100.0}
{"id": "MONDO:0030515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 63", "equivalent_identifiers": ["MONDO:0030515", "DOID:0112356", "OMIM:619689", "UMLS:C5562055", "medgen:1794265"], "information_content": 100.0}
{"id": "MONDO:0859242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 24", "equivalent_identifiers": ["MONDO:0859242", "DOID:0070406", "OMIM:619851", "UMLS:C5676974", "medgen:1805365"], "information_content": 100.0}
{"id": "MONDO:0007599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "factor 9 and Factor XI, combined deficiency of", "equivalent_identifiers": ["MONDO:0007599", "OMIM:134540", "UMLS:C1851374", "MESH:C565022", "medgen:377012"], "information_content": 100.0}
{"id": "MONDO:0008976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome", "equivalent_identifiers": ["MONDO:0008976", "OMIM:215250", "UMLS:C1859104", "MESH:C565852", "medgen:349095"], "information_content": 100.0}
{"id": "MONDO:0030797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 93", "equivalent_identifiers": ["MONDO:0030797", "DOID:0061105", "OMIM:619845", "UMLS:C5676970", "medgen:1810905"], "information_content": 100.0}
{"id": "MONDO:0008683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilms tumor 3", "equivalent_identifiers": ["MONDO:0008683", "OMIM:194090", "UMLS:C1860265", "MESH:C565991", "medgen:349770"], "information_content": 100.0}
{"id": "MONDO:0008893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C syndrome", "equivalent_identifiers": ["MONDO:0008893", "DOID:0111581", "OMIM:211750", "orphanet:1308", "UMLS:C0796095", "MESH:C537418", "MEDDRA:10083975", "MEDDRA:10083976", "SNOMEDCT:715409005", "medgen:167105", "icd11.foundation:1482041278"], "information_content": 100.0}
{"id": "HP:0009100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick anterior alveolar ridges", "equivalent_identifiers": ["HP:0009100", "UMLS:C1859377"], "information_content": 100.0}
{"id": "HP:0006643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fused sternal ossification centers", "equivalent_identifiers": ["HP:0006643", "UMLS:C1859376"], "information_content": 100.0}
{"id": "MONDO:0014399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-telangiectasia-like disorder 2", "equivalent_identifiers": ["MONDO:0014399", "DOID:0081385", "OMIM:615919", "orphanet:438134", "UMLS:C4014676", "SNOMEDCT:1228871002", "medgen:863113"], "information_content": 100.0}
{"id": "MONDO:0013751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa, autosomal dominant 2", "equivalent_identifiers": ["MONDO:0013751", "DOID:0070136", "OMIM:614434", "UMLS:C3280794", "medgen:482424"], "information_content": 100.0}
{"id": "MONDO:0030847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 1C", "equivalent_identifiers": ["MONDO:0030847", "DOID:0112190", "OMIM:619110", "UMLS:C5436834", "medgen:1722257"], "information_content": 100.0}
{"id": "HP:0006070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpophalangeal joint contracture", "equivalent_identifiers": ["HP:0006070", "UMLS:C2677209"], "information_content": 100.0}
{"id": "HP:0033357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited head rotation", "equivalent_identifiers": ["HP:0033357", "UMLS:C5539538"], "information_content": 100.0}
{"id": "MONDO:0054748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia, complementation group S", "equivalent_identifiers": ["MONDO:0054748", "DOID:0060979", "OMIM:617883", "UMLS:C4554406", "medgen:1632414"], "information_content": 100.0}
{"id": "MONDO:0012282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Al-Gazali syndrome", "equivalent_identifiers": ["MONDO:0012282", "OMIM:609465", "UMLS:C1836121", "MESH:C536817", "SNOMEDCT:1208342001", "medgen:373020"], "information_content": 100.0}
{"id": "MONDO:0007221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type C", "equivalent_identifiers": ["MONDO:0007221", "DOID:0110970", "OMIM:113100", "orphanet:93384", "UMLS:C1300268", "UMLS:C1862103", "MESH:C537093", "SNOMEDCT:389169005", "medgen:350590", "icd11.foundation:956707061", "HP:0009373"], "information_content": 100.0}
{"id": "HP:0009461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short 3rd finger", "equivalent_identifiers": ["HP:0009461", "UMLS:C4021469"], "information_content": 90.9}
{"id": "HP:0009324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged epiphysis of the middle phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009324", "UMLS:C4024441"], "information_content": 100.0}
{"id": "HP:0009587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped proximal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009587", "UMLS:C4021432"], "information_content": 100.0}
{"id": "HP:0009523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular epiphysis of the middle phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009523", "UMLS:C4024310"], "information_content": 100.0}
{"id": "HP:0009349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged epiphysis of the proximal phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009349", "UMLS:C4021488"], "information_content": 100.0}
{"id": "HP:0009527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged epiphysis of the proximal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009527", "UMLS:C4021455"], "information_content": 100.0}
{"id": "HP:0011929", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypersegmentation of proximal phalanx of third finger", "equivalent_identifiers": ["HP:0011929", "UMLS:C4023122"], "information_content": 100.0}
{"id": "HP:0009331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular epiphysis of the middle phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009331", "UMLS:C4021490"], "information_content": 100.0}
{"id": "HP:0009495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphysis of the 2nd finger", "equivalent_identifiers": ["HP:0009495", "UMLS:C4021465"], "information_content": 90.9}
{"id": "HP:0009456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped proximal phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009456", "UMLS:C4024349"], "information_content": 100.0}
{"id": "HP:0009356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular epiphysis of the proximal phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009356", "UMLS:C4021487"], "information_content": 100.0}
{"id": "HP:0009436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped middle phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009436", "UMLS:C4024362"], "information_content": 100.0}
{"id": "HP:0009534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular epiphysis of the proximal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009534", "UMLS:C4021454"], "information_content": 100.0}
{"id": "HP:0009417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoepiphyses of the 3rd finger", "equivalent_identifiers": ["HP:0009417", "UMLS:C4021480"], "information_content": 90.9}
{"id": "HP:0006206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypersegmentation of proximal phalanx of second finger", "equivalent_identifiers": ["HP:0006206", "UMLS:C4025080"], "information_content": 100.0}
{"id": "HP:0009516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged epiphysis of the middle phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009516", "UMLS:C4024317"], "information_content": 100.0}
{"id": "MONDO:0014026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1F", "equivalent_identifiers": ["MONDO:0014026", "DOID:0110864", "OMIM:615058", "UMLS:C3554399", "medgen:767313"], "information_content": 100.0}
{"id": "MONDO:0001539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal break", "equivalent_identifiers": ["MONDO:0001539", "DOID:12514", "EFO:0010698", "UMLS:C0035321", "MESH:D012167", "MEDDRA:10038897", "MEDDRA:10066422", "NCIT:C50732", "SNOMEDCT:1275615004", "SNOMEDCT:232003005", "SNOMEDCT:95690009", "medgen:48435", "HP:0011958"], "information_content": 90.9}
{"id": "MONDO:0013708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 25", "equivalent_identifiers": ["MONDO:0013708", "DOID:0081198", "OMIM:614346", "UMLS:C3280544", "medgen:482174"], "information_content": 100.0}
{"id": "MONDO:0030505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, progressive familial intrahepatic, 8", "equivalent_identifiers": ["MONDO:0030505", "OMIM:619662", "UMLS:C5562045", "medgen:1794255"], "information_content": 100.0}
{"id": "MONDO:0968976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with progressive movement abnormalities", "equivalent_identifiers": ["MONDO:0968976", "OMIM:620785", "UMLS:C5935606", "medgen:1861832"], "information_content": 100.0}
{"id": "HP:0030302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of the anterior commissure", "equivalent_identifiers": ["HP:0030302", "UMLS:C1851087"], "information_content": 100.0}
{"id": "MONDO:0008675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Freeman-Sheldon syndrome", "equivalent_identifiers": ["MONDO:0008675", "DOID:0111604", "DOID:0111605", "OMIM:193700", "orphanet:2053", "UMLS:C0265224", "MESH:C535483", "MEDDRA:10073655", "NCIT:C98931", "SNOMEDCT:52616002", "medgen:120516", "icd11.foundation:1314169421"], "information_content": 95.4}
{"id": "MONDO:0013743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal systemic lupus erythematosus type 16", "equivalent_identifiers": ["MONDO:0013743", "OMIM:614420", "orphanet:300345", "UMLS:C3280742", "medgen:482372"], "information_content": 100.0}
{"id": "MONDO:0005556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lupus nephritis", "equivalent_identifiers": ["MONDO:0005556", "DOID:0080162", "EFO:0005761", "UMLS:C0024143", "MESH:D008181", "MEDDRA:10025140", "MEDDRA:10029141", "MEDDRA:10029142", "MEDDRA:10040970", "MEDDRA:10089276", "NCIT:C34789", "SNOMEDCT:68815009", "medgen:6147", "icd11.foundation:1815692673", "HP:0033726"], "information_content": 84.2}
{"id": "HP:0020151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-dsDNA antibody positivity", "equivalent_identifiers": ["HP:0020151", "UMLS:C5539409", "MEDDRA:10069914"], "information_content": 100.0}
{"id": "MONDO:0800025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Teebi hypertelorism syndrome 1", "equivalent_identifiers": ["MONDO:0800025", "DOID:0080698", "OMIM:145420", "orphanet:1519", "SNOMEDCT:724284005"], "information_content": 100.0}
{"id": "MONDO:0009243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fraser-like syndrome", "equivalent_identifiers": ["MONDO:0009243", "OMIM:229230", "UMLS:C1856708", "MESH:C565562", "medgen:346426"], "information_content": 100.0}
{"id": "MONDO:0032615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 9", "equivalent_identifiers": ["MONDO:0032615", "DOID:0112073", "OMIM:618232", "UMLS:C4748767", "medgen:1648447"], "information_content": 100.0}
{"id": "MONDO:0007503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ear without helix", "equivalent_identifiers": ["MONDO:0007503", "OMIM:128800", "UMLS:C1851899", "medgen:343678"], "information_content": 100.0}
{"id": "MONDO:0014914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dias-Logan syndrome", "equivalent_identifiers": ["MONDO:0014914", "OMIM:617101", "UMLS:C4310833", "MEDDRA:10090512", "medgen:934800"], "information_content": 100.0}
{"id": "MONDO:0007669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal cysts and diabetes syndrome", "equivalent_identifiers": ["MONDO:0007669", "DOID:0111101", "OMIM:137920", "orphanet:93111", "UMLS:C0431693", "MESH:C535520", "NCIT:C123018", "SNOMEDCT:253864004", "SNOMEDCT:446641003", "SNOMEDCT:609572000", "medgen:96569"], "information_content": 100.0}
{"id": "HP:0030997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atretic vas deferens", "equivalent_identifiers": ["HP:0030997", "UMLS:C0266445", "SNOMEDCT:39513007"], "information_content": 100.0}
{"id": "HP:6000156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic atrophy", "equivalent_identifiers": ["HP:6000156", "UMLS:C0152014", "MEDDRA:10003717", "MEDDRA:10033603", "SNOMEDCT:88281007"], "information_content": 100.0}
{"id": "MONDO:0014318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia with intellectual disability syndrome 4", "equivalent_identifiers": ["MONDO:0014318", "DOID:0070436", "OMIM:615716", "UMLS:C3810354", "medgen:816684"], "information_content": 100.0}
{"id": "MONDO:0012794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ANE syndrome", "equivalent_identifiers": ["MONDO:0012794", "DOID:0112244", "OMIM:612079", "orphanet:157954", "UMLS:C2677535", "MESH:C567425", "SNOMEDCT:770941005", "medgen:394313"], "information_content": 100.0}
{"id": "MONDO:0008371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dowling-Degos disease", "equivalent_identifiers": ["MONDO:0008371", "DOID:0060256", "orphanet:79145", "UMLS:C3714534", "MESH:C562924", "MEDDRA:10068651", "medgen:811363", "icd11.foundation:15123132", "HP:6000745"], "information_content": 89.4}
{"id": "MONDO:0012110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth delay due to insulin-like growth factor type 1 deficiency", "equivalent_identifiers": ["MONDO:0012110", "OMIM:608747", "orphanet:73272", "UMLS:C1837475", "MESH:C563867", "NCIT:C120106", "SNOMEDCT:724385009", "medgen:373337"], "information_content": 100.0}
{"id": "MONDO:0054739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fraser syndrome 3", "equivalent_identifiers": ["MONDO:0054739", "DOID:0111406", "OMIM:617667", "UMLS:C4540040", "medgen:1621907"], "information_content": 100.0}
{"id": "MONDO:0008642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VACTERL/vater association", "equivalent_identifiers": ["MONDO:0008642", "DOID:14679", "OMIM:192350", "orphanet:887", "UMLS:C0220708", "UMLS:C4225671", "MESH:C536495", "MESH:C536534", "MEDDRA:10053665", "MEDDRA:10066022", "NCIT:C99105", "SNOMEDCT:27742002", "SNOMEDCT:431395004", "medgen:902479", "icd11.foundation:1452617987"], "information_content": 92.8}
{"id": "MONDO:0018551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent urachus", "equivalent_identifiers": ["MONDO:0018551", "orphanet:431341", "UMLS:C0266357", "NCIT:C99005", "SNOMEDCT:398316009", "medgen:75610", "icd11.foundation:1391202028", "HP:0010479"], "information_content": 100.0}
{"id": "MONDO:0010979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Timothy syndrome", "equivalent_identifiers": ["MONDO:0010979", "DOID:0060173", "OMIM:601005", "orphanet:65283", "UMLS:C1832916", "MESH:C536962", "MEDDRA:10079205", "NCIT:C142894", "SNOMEDCT:1230096008", "medgen:331395", "ICD10:G72.3"], "information_content": 89.4}
{"id": "MONDO:0014699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 40", "equivalent_identifiers": ["MONDO:0014699", "DOID:0070070", "OMIM:616579", "UMLS:C5676894", "medgen:1810363"], "information_content": 100.0}
{"id": "MONDO:0010454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 88", "equivalent_identifiers": ["MONDO:0010454", "DOID:0112053", "OMIM:300852", "UMLS:C3275444", "medgen:477075"], "information_content": 100.0}
{"id": "MONDO:0009996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic syndrome, Urbach type", "equivalent_identifiers": ["MONDO:0009996", "OMIM:268250", "orphanet:3098", "UMLS:C1849382", "MESH:C537611", "medgen:376574"], "information_content": 100.0}
{"id": "MONDO:0011403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left ventricular noncompaction 1", "equivalent_identifiers": ["MONDO:0011403", "OMIM:604169", "UMLS:C1858725", "MESH:C565821", "medgen:349005"], "information_content": 100.0}
{"id": "MONDO:0011143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 6", "equivalent_identifiers": ["MONDO:0011143", "DOID:0111011", "OMIM:601777", "UMLS:C1866293", "MESH:C538363", "medgen:400963"], "information_content": 100.0}
{"id": "MONDO:0032610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 5", "equivalent_identifiers": ["MONDO:0032610", "DOID:0112068", "OMIM:618226", "UMLS:C4748754", "medgen:1648292"], "information_content": 100.0}
{"id": "MONDO:0014923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 5", "equivalent_identifiers": ["MONDO:0014923", "DOID:0070524", "OMIM:617115", "UMLS:C4310710", "medgen:934677"], "information_content": 100.0}
{"id": "MONDO:0859372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies", "equivalent_identifiers": ["MONDO:0859372", "OMIM:620236", "UMLS:C5774308", "medgen:1824081"], "information_content": 100.0}
{"id": "MONDO:0033544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tolchin-Le Caignec syndrome", "equivalent_identifiers": ["MONDO:0033544", "OMIM:618971", "UMLS:C5436509", "medgen:1724999"], "information_content": 100.0}
{"id": "MONDO:0014771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 26", "equivalent_identifiers": ["MONDO:0014771", "DOID:0110995", "OMIM:616784", "UMLS:C4084843", "medgen:900415"], "information_content": 100.0}
{"id": "MONDO:0013444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 9", "equivalent_identifiers": ["MONDO:0013444", "DOID:0111120", "OMIM:613824", "UMLS:C3151188", "medgen:462538"], "information_content": 100.0}
{"id": "MONDO:0012848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 6", "equivalent_identifiers": ["MONDO:0012848", "DOID:0070120", "OMIM:612284", "UMLS:C2676790", "MESH:C567365", "medgen:382942"], "information_content": 100.0}
{"id": "HP:0006706", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystic liver disease", "equivalent_identifiers": ["HP:0006706", "EFO:1001505", "UMLS:C4551631", "MEDDRA:10010427"], "information_content": 92.8}
{"id": "MONDO:0007410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated cryptophthalmia", "equivalent_identifiers": ["MONDO:0007410", "DOID:0111717", "OMIM:123570", "orphanet:91396", "UMLS:C1852453", "UMLS:C4305274", "MESH:C565138", "SNOMEDCT:718691008", "medgen:342242"], "information_content": 90.9}
{"id": "MONDO:0011195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1E", "equivalent_identifiers": ["MONDO:0011195", "DOID:0110833", "OMIM:602097", "UMLS:C1865865", "MESH:C566577", "medgen:400865"], "information_content": 100.0}
{"id": "MONDO:0007132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anonychia-ectrodactyly", "equivalent_identifiers": ["MONDO:0007132", "OMIM:106900", "UMLS:C1862843", "MESH:C566277", "medgen:354849"], "information_content": 100.0}
{"id": "MONDO:0010946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 6", "equivalent_identifiers": ["MONDO:0010946", "DOID:0110312", "OMIM:600858", "UMLS:C1833236", "MESH:C563436", "NCIT:C177249", "medgen:331466"], "information_content": 100.0}
{"id": "MONDO:0957824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 14", "equivalent_identifiers": ["MONDO:0957824", "OMIM:620550", "UMLS:C5882708", "medgen:1851745"], "information_content": 100.0}
{"id": "MONDO:0008909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type i/IIx", "equivalent_identifiers": ["MONDO:0008909", "OMIM:212067", "UMLS:C0349655", "MESH:C562844", "SNOMEDCT:277895009", "medgen:91162"], "information_content": 100.0}
{"id": "MONDO:0013912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 10 with or without anosmia", "equivalent_identifiers": ["MONDO:0013912", "DOID:0090089", "OMIM:614839", "UMLS:C3553843", "medgen:766757"], "information_content": 100.0}
{"id": "MONDO:0012854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral microtia-deafness-cleft palate syndrome", "equivalent_identifiers": ["MONDO:0012854", "OMIM:612290", "orphanet:140963", "UMLS:C2676772", "UMLS:C3808166", "MESH:C567359", "medgen:382936"], "information_content": 100.0}
{"id": "HP:0031229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased incisura length", "equivalent_identifiers": ["HP:0031229", "UMLS:C4531262"], "information_content": 100.0}
{"id": "MONDO:0011186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1F", "equivalent_identifiers": ["MONDO:0011186", "DOID:0110832", "OMIM:602083", "UMLS:C1865885", "MESH:C566586", "medgen:356393"], "information_content": 100.0}
{"id": "MONDO:0013450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1D", "equivalent_identifiers": ["MONDO:0013450", "DOID:0110868", "OMIM:613830", "UMLS:C3151193", "medgen:462543"], "information_content": 100.0}
{"id": "MONDO:0013614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertelorism-preauricular sinus-punctual pits-deafness syndrome", "equivalent_identifiers": ["MONDO:0013614", "OMIM:614187", "orphanet:293958", "UMLS:C4751125", "SNOMEDCT:773667003", "medgen:1659106"], "information_content": 100.0}
{"id": "MONDO:0009802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteodysplasty, precocious, of Danks, Mayne, and Kozlowski", "equivalent_identifiers": ["MONDO:0009802", "OMIM:259270", "UMLS:C1850185", "MESH:C564922", "medgen:337989"], "information_content": 100.0}
{"id": "MONDO:0859364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 80", "equivalent_identifiers": ["MONDO:0859364", "DOID:0070579", "OMIM:620222", "UMLS:C5774301", "medgen:1824074"], "information_content": 100.0}
{"id": "MONDO:0014845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 22", "equivalent_identifiers": ["MONDO:0014845", "DOID:0111614", "OMIM:616948", "UMLS:C4310781", "medgen:934748"], "information_content": 100.0}
{"id": "MONDO:0013440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2P", "equivalent_identifiers": ["MONDO:0013440", "DOID:0110293", "OMIM:613818", "orphanet:280333", "UMLS:C4511963", "SNOMEDCT:726614009", "medgen:1386785"], "information_content": 100.0}
{"id": "MONDO:0032920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile arthritis due to defect in LACC1", "equivalent_identifiers": ["MONDO:0032920", "OMIM:618795"], "information_content": 100.0}
{"id": "HP:0033087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quotidian fever", "equivalent_identifiers": ["HP:0033087", "UMLS:C2219980"], "information_content": 100.0}
{"id": "HP:0032323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periodic fever", "equivalent_identifiers": ["HP:0032323", "UMLS:C0015974", "MEDDRA:10034533"], "information_content": 95.4}
{"id": "MONDO:0800046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone metabolism, abnormal 1", "equivalent_identifiers": ["MONDO:0800046", "OMIM:609698", "orphanet:171706", "UMLS:C5676891", "MESH:C566454", "medgen:1801974"], "information_content": 100.0}
{"id": "MONDO:0009468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudotumor cerebri", "equivalent_identifiers": ["MONDO:0009468", "DOID:11459", "OMIM:243200", "orphanet:238624", "EFO:1001132", "UMLS:C0033845", "MESH:D011559", "MEDDRA:10004277", "MEDDRA:10037149", "MEDDRA:10073807", "MEDDRA:10078904", "NCIT:C85035", "SNOMEDCT:68267002", "medgen:18732", "ICD10:G93.2", "ICD9:348.2"], "information_content": 100.0}
{"id": "MONDO:0008989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "citrulline transport defect", "equivalent_identifiers": ["MONDO:0008989", "OMIM:215720", "UMLS:C1859084", "MESH:C536207", "medgen:349092"], "information_content": 100.0}
{"id": "MONDO:0008473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Maroteaux type", "equivalent_identifiers": ["MONDO:0008473", "DOID:0111553", "OMIM:184095", "orphanet:263482", "UMLS:C3159322", "SNOMEDCT:719204007", "medgen:463613"], "information_content": 100.0}
{"id": "MONDO:0010610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly-hypokinesia-congenital contractures syndrome", "equivalent_identifiers": ["MONDO:0010610", "OMIM:306990", "orphanet:2570", "UMLS:C1844016", "UMLS:C4274798", "MESH:C564409", "SNOMEDCT:716169009", "medgen:336097"], "information_content": 100.0}
{"id": "HP:0005895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial deviation of thumb terminal phalanx", "equivalent_identifiers": ["HP:0005895", "UMLS:C4025111"], "information_content": 100.0}
{"id": "MONDO:0026731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism, congenital, nongoitrous, 8", "equivalent_identifiers": ["MONDO:0026731", "DOID:0111837", "OMIM:301033", "UMLS:C5231395", "medgen:1684717"], "information_content": 100.0}
{"id": "MONDO:0800341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 4A, autosomal dominant", "equivalent_identifiers": ["MONDO:0800341", "OMIM:255310"], "information_content": 100.0}
{"id": "MONDO:0032914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 44", "equivalent_identifiers": ["MONDO:0032914", "DOID:0111851", "OMIM:618781", "UMLS:C5394063", "medgen:1716408"], "information_content": 100.0}
{"id": "MONDO:0008221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prolidase deficiency", "equivalent_identifiers": ["MONDO:0008221", "DOID:0111540", "OMIM:170100", "orphanet:742", "UMLS:C0268532", "MESH:D056732", "NCIT:C85029", "SNOMEDCT:360994007", "SNOMEDCT:410055005", "medgen:120647", "icd11.foundation:1416203271"], "information_content": 100.0}
{"id": "HP:0007489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse telangiectasia", "equivalent_identifiers": ["HP:0007489", "UMLS:C1265776", "SNOMEDCT:125279001"], "information_content": 100.0}
{"id": "HP:6000828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue peptidase D activity", "equivalent_identifiers": ["HP:6000828", "UMLS:C5937549"], "information_content": 100.0}
{"id": "HP:0033187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperimidodipeptiduria", "equivalent_identifiers": ["HP:0033187", "UMLS:C5399950"], "information_content": 100.0}
{"id": "HP:0007473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crusting erythematous dermatitis", "equivalent_identifiers": ["HP:0007473", "UMLS:C1868496"], "information_content": 100.0}
{"id": "MONDO:0014856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 30", "equivalent_identifiers": ["MONDO:0014856", "DOID:0111471", "OMIM:616974", "orphanet:478042", "EFO:0009038", "UMLS:C5567605", "SNOMEDCT:1172841001", "medgen:1799028"], "information_content": 100.0}
{"id": "HP:6000182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent otoacoustic emissions", "equivalent_identifiers": ["HP:6000182", "UMLS:C5436761"], "information_content": 100.0}
{"id": "MONDO:0030072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 88", "equivalent_identifiers": ["MONDO:0030072", "DOID:0112222", "OMIM:618959", "UMLS:C5394553", "medgen:1712195"], "information_content": 100.0}
{"id": "MONDO:0976231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 83", "equivalent_identifiers": ["MONDO:0976231", "DOID:0061114", "OMIM:621100"], "information_content": 100.0}
{"id": "HP:0031355", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Middle Insomnia", "equivalent_identifiers": ["HP:0031355", "NCIT:C35582", "UMLS:C0393761", "MEDDRA:10027590", "MEDDRA:10029448", "MEDDRA:10068671", "SNOMEDCT:67233009"], "information_content": 100.0}
{"id": "HP:0012170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nail-biting", "equivalent_identifiers": ["HP:0012170", "UMLS:C0027338", "SNOMEDCT:37298006"], "information_content": 95.4}
{"id": "MONDO:0009363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephaly-tall stature-joint laxity syndrome", "equivalent_identifiers": ["MONDO:0009363", "OMIM:236660", "orphanet:2181", "UMLS:C1856051", "MESH:C535770", "SNOMEDCT:732926009", "medgen:383828"], "information_content": 100.0}
{"id": "MONDO:0011682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia type 3", "equivalent_identifiers": ["MONDO:0011682", "DOID:0050991", "OMIM:606554", "orphanet:79135", "UMLS:C1847839", "MESH:C564697", "SNOMEDCT:718755009", "medgen:376220"], "information_content": 100.0}
{"id": "MONDO:0859143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radio-Tartaglia syndrome", "equivalent_identifiers": ["MONDO:0859143", "OMIM:619312", "orphanet:662234", "UMLS:C5543339", "medgen:1778557"], "information_content": 100.0}
{"id": "MONDO:0007637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, Fuchs endothelial, 1", "equivalent_identifiers": ["MONDO:0007637", "OMIM:136800", "UMLS:C1850959", "MESH:C535478", "medgen:338172"], "information_content": 100.0}
{"id": "HP:0012039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Descemet Membrane Folds", "equivalent_identifiers": ["HP:0012039", "UMLS:C0155116", "MEDDRA:10016891", "SNOMEDCT:193821003"], "information_content": 100.0}
{"id": "MONDO:0011652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phelan-McDermid syndrome", "equivalent_identifiers": ["MONDO:0011652", "DOID:0080354", "OMIM:606232", "orphanet:48652", "UMLS:C1853490", "MESH:C536801", "MEDDRA:10082417", "NCIT:C157124", "SNOMEDCT:699310000", "medgen:339994"], "information_content": 92.8}
{"id": "MONDO:0012833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crouzon syndrome-acanthosis nigricans syndrome", "equivalent_identifiers": ["MONDO:0012833", "DOID:0111161", "OMIM:612247", "orphanet:93262", "UMLS:C0403592", "UMLS:C2677099", "MESH:C567382", "MEDDRA:10063209", "NCIT:C38145", "SNOMEDCT:236578006", "SNOMEDCT:702361006", "medgen:394201"], "information_content": 100.0}
{"id": "MONDO:0014231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile onset Parkinson disease 19A", "equivalent_identifiers": ["MONDO:0014231", "DOID:0060891", "OMIM:615528", "UMLS:C3809811", "NCIT:C198608", "medgen:816141", "ICD10:G20"], "information_content": 100.0}
{"id": "MONDO:0013163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis-like nephropathy 1", "equivalent_identifiers": ["MONDO:0013163", "DOID:0111117", "OMIM:613159", "UMLS:C3150419", "medgen:461769"], "information_content": 100.0}
{"id": "MONDO:0013830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus 5", "equivalent_identifiers": ["MONDO:0013830", "OMIM:614622", "UMLS:C3553302", "medgen:766216"], "information_content": 100.0}
{"id": "MONDO:0010099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tay-Sachs disease AB variant", "equivalent_identifiers": ["MONDO:0010099", "DOID:4795", "OMIM:272750", "orphanet:309246", "UMLS:C0268275", "MESH:D049290", "NCIT:C133084", "SNOMEDCT:71253000", "medgen:78657"], "information_content": 100.0}
{"id": "MONDO:0012497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness autosomal dominant 3", "equivalent_identifiers": ["MONDO:0012497", "DOID:0110715", "OMIM:610444", "UMLS:C1864870", "MESH:C566475", "medgen:355313"], "information_content": 100.0}
{"id": "MONDO:0859141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia", "equivalent_identifiers": ["MONDO:0859141", "OMIM:619306", "UMLS:C5543332", "medgen:1786150"], "information_content": 100.0}
{"id": "MONDO:0018946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhombencephalosynapsis", "equivalent_identifiers": ["MONDO:0018946", "orphanet:59315", "UMLS:C1866130", "MEDDRA:10090354", "SNOMEDCT:442300000", "medgen:356456", "icd11.foundation:2112180041", "HP:0031913"], "information_content": 100.0}
{"id": "MONDO:0005262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system cyst", "equivalent_identifiers": ["MONDO:0005262", "EFO:0003760", "UMLS:C0349606", "MESH:D020863", "NCIT:C4657", "SNOMEDCT:277333006", "medgen:138106", "HP:0030724"], "information_content": 78.8}
{"id": "MONDO:0011105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alacrima, congenital, autosomal recessive", "equivalent_identifiers": ["MONDO:0011105", "OMIM:601549", "UMLS:C4012597", "medgen:861034"], "information_content": 100.0}
{"id": "MONDO:0012193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1G", "equivalent_identifiers": ["MONDO:0012193", "DOID:0110306", "OMIM:609115", "orphanet:55596", "UMLS:C1836765", "MESH:C563794", "SNOMEDCT:719990003", "medgen:322993"], "information_content": 100.0}
{"id": "HP:0008116", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexion limitation of toes", "equivalent_identifiers": ["HP:0008116", "UMLS:C4024731"], "information_content": 100.0}
{"id": "HP:0006203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased movement range in interphalangeal joints", "equivalent_identifiers": ["HP:0006203", "UMLS:C1836772"], "information_content": 100.0}
{"id": "MONDO:0859171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Luo-Schoch-Yamamoto syndrome", "equivalent_identifiers": ["MONDO:0859171", "DOID:0070416", "OMIM:619460", "UMLS:C5561946", "medgen:1794156"], "information_content": 100.0}
{"id": "MONDO:0020759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, childhood absence, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0020759", "OMIM:600131", "UMLS:C1838604", "medgen:325057"], "information_content": 100.0}
{"id": "MONDO:0010108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular germ cell tumor", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0010108", "DOID:5557", "OMIM:273300", "orphanet:363504", "EFO:1000566", "UMLS:C1336708", "UMLS:C3463918", "MESH:C563236", "MEDDRA:10075811", "MEDDRA:10075819", "NCIT:C8591", "SNOMEDCT:713577007", "medgen:277809"], "information_content": 68.2}
{"id": "MONDO:0005207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choriocarcinoma", "equivalent_identifiers": ["MONDO:0005207", "DOID:3594", "EFO:0002893", "UMLS:C0008497", "MESH:D002822", "MEDDRA:10008757", "MEDDRA:10008759", "NCIT:C2948", "SNOMEDCT:1156971005", "SNOMEDCT:188188009", "SNOMEDCT:44769000", "medgen:40278", "HP:0100768"], "information_content": 78.0}
{"id": "MONDO:0011888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 67", "equivalent_identifiers": ["MONDO:0011888", "OMIM:607676", "orphanet:70592", "UMLS:C1843256", "UMLS:C1970686", "MESH:C564352", "medgen:375137"], "information_content": 100.0}
{"id": "HP:0020096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent streptococcal infections", "equivalent_identifiers": ["HP:0020096", "UMLS:C5139076"], "information_content": 95.4}
{"id": "MONDO:0012055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Larsen-like osseous dysplasia-short stature syndrome", "equivalent_identifiers": ["MONDO:0012055", "OMIM:608545", "orphanet:2370", "UMLS:C1837884", "MESH:C563914", "medgen:325280"], "information_content": 100.0}
{"id": "MONDO:0013319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 4Q32.1-q32.2 triplication syndrome", "equivalent_identifiers": ["MONDO:0013319", "OMIM:613603", "UMLS:C3150857", "medgen:462207"], "information_content": 100.0}
{"id": "MONDO:0014108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group Q", "equivalent_identifiers": ["MONDO:0014108", "DOID:0111093", "OMIM:615272", "UMLS:C3808988", "medgen:815318"], "information_content": 100.0}
{"id": "MONDO:0009084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conductive deafness-ptosis-skeletal anomalies syndrome", "equivalent_identifiers": ["MONDO:0009084", "OMIM:221320", "orphanet:3236", "UMLS:C1857340", "MESH:C535993", "SNOMEDCT:763213001", "medgen:347428"], "information_content": 100.0}
{"id": "MONDO:0011179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leishmaniasis, tegumentary, susceptibility to", "equivalent_identifiers": ["MONDO:0011179", "OMIM:602068", "UMLS:C2748501", "medgen:412566", "HP:0007408"], "information_content": 100.0}
{"id": "MONDO:0010194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weill-Marchesani syndrome 1", "equivalent_identifiers": ["MONDO:0010194", "OMIM:277600", "UMLS:C1869114", "UMLS:C4552002", "medgen:1637058"], "information_content": 100.0}
{"id": "MONDO:0015012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis-plus syndrome", "equivalent_identifiers": ["MONDO:0015012", "OMIM:617303", "orphanet:505248", "UMLS:C4310627", "UMLS:C5568800", "SNOMEDCT:1187113001", "medgen:934594"], "information_content": 100.0}
{"id": "DOID:2512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nevoid basal cell carcinoma syndrome", "equivalent_identifiers": ["DOID:2512", "OMIM:109400", "UMLS:C0004779", "MESH:D001478", "MEDDRA:10004151", "MEDDRA:10062804", "MEDDRA:10078877", "MEDDRA:10078878", "NCIT:C2892", "SNOMEDCT:69408002"], "information_content": 86.3}
{"id": "MONDO:0018648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keratocystic odontogenic tumor", "equivalent_identifiers": ["MONDO:0018648", "orphanet:447777", "UMLS:C0341038", "UMLS:C1708604", "MEDDRA:10080839", "NCIT:C54302", "SNOMEDCT:110417007", "SNOMEDCT:713277006", "medgen:313330", "HP:0010603"], "information_content": 95.4}
{"id": "HP:0004280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular ossification of hand bones", "equivalent_identifiers": ["HP:0004280", "UMLS:C4025374"], "information_content": 95.4}
{"id": "MONDO:0036688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdomyoma", "equivalent_identifiers": ["MONDO:0036688", "UMLS:C0035411", "MESH:D012207", "MEDDRA:10028633", "MEDDRA:10039021", "NCIT:C3358", "SNOMEDCT:1156975001", "SNOMEDCT:302846007", "SNOMEDCT:402877008", "SNOMEDCT:43375002", "medgen:48445", "icd11.foundation:1253205675", "HP:0009730"], "information_content": 78.8}
{"id": "HP:0010617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiac fibroma", "equivalent_identifiers": ["HP:0010617", "NCIT:C6947", "UMLS:C1096654", "MEDDRA:10055009"], "information_content": 95.4}
{"id": "HP:0004795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hamartomatous stomach polyps", "equivalent_identifiers": ["HP:0004795", "UMLS:C1862304", "SNOMEDCT:724524006"], "information_content": 100.0}
{"id": "MONDO:0012507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal cone dystrophy 4", "equivalent_identifiers": ["MONDO:0012507", "DOID:0081023", "OMIM:610478", "UMLS:C1864849", "MESH:C566470", "medgen:355308"], "information_content": 100.0}
{"id": "MONDO:0012196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant auditory neuropathy 1", "equivalent_identifiers": ["MONDO:0012196", "DOID:0060690", "OMIM:609129", "UMLS:C1836743", "MESH:C563790", "medgen:322984"], "information_content": 100.0}
{"id": "MONDO:0014211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 26", "equivalent_identifiers": ["MONDO:0014211", "DOID:0110627", "OMIM:615500", "UMLS:C3809684", "medgen:816014"], "information_content": 100.0}
{"id": "MONDO:0013328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 58", "equivalent_identifiers": ["MONDO:0013328", "DOID:0110362", "OMIM:613617", "UMLS:C3150879", "medgen:462229"], "information_content": 100.0}
{"id": "MONDO:0008579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toes, relative length of first and second", "equivalent_identifiers": ["MONDO:0008579", "OMIM:189200", "UMLS:C1861059", "medgen:396051"], "information_content": 100.0}
{"id": "MONDO:0014102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 17 with or without anosmia", "equivalent_identifiers": ["MONDO:0014102", "DOID:0090079", "OMIM:615266", "UMLS:C3808971", "medgen:815301"], "information_content": 100.0}
{"id": "MONDO:0007698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hand-foot-genital syndrome", "equivalent_identifiers": ["MONDO:0007698", "DOID:0060739", "OMIM:140000", "orphanet:2438", "UMLS:C1841679", "MESH:C535627", "MEDDRA:10072361", "SNOMEDCT:702425002", "medgen:331103", "ICD10:Q51.2"], "information_content": 100.0}
{"id": "MONDO:0015849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "longitudinal vaginal septum", "equivalent_identifiers": ["MONDO:0015849", "orphanet:180157", "UMLS:C1841680", "medgen:331104", "icd11.foundation:1594393492", "HP:0008740"], "information_content": 100.0}
{"id": "MONDO:0008544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetramelic monodactyly", "equivalent_identifiers": ["MONDO:0008544", "OMIM:187510", "orphanet:2564", "UMLS:C1861233", "MESH:C566066", "SNOMEDCT:770945001", "medgen:349989"], "information_content": 100.0}
{"id": "MONDO:0030293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioedema, hereditary, 5", "equivalent_identifiers": ["MONDO:0030293", "OMIM:619361", "UMLS:C5543508", "medgen:1780904"], "information_content": 100.0}
{"id": "HP:0030254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nail bed hemorrhage", "equivalent_identifiers": ["HP:0030254", "UMLS:C0877087", "MEDDRA:10048891", "MEDDRA:10072707", "MEDDRA:10072708"], "information_content": 100.0}
{"id": "HP:0031244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Swollen lip", "equivalent_identifiers": ["HP:0031244", "UMLS:C0240211", "MEDDRA:10024570", "MEDDRA:10042684", "MEDDRA:10042703", "MEDDRA:10042723", "SNOMEDCT:699376002"], "information_content": 100.0}
{"id": "MONDO:0007904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "median nodule of the upper lip", "equivalent_identifiers": ["MONDO:0007904", "OMIM:151630", "orphanet:2699", "UMLS:C1835396", "SNOMEDCT:722034006", "medgen:372034"], "information_content": 100.0}
{"id": "MONDO:0014474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2U", "equivalent_identifiers": ["MONDO:0014474", "DOID:0110295", "OMIM:616052", "orphanet:352479", "UMLS:C5190987", "SNOMEDCT:783554002", "medgen:1683417"], "information_content": 100.0}
{"id": "HP:0410050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of 1,5 anhydroglucitol in serum", "equivalent_identifiers": ["HP:0410050", "UMLS:C4703616"], "information_content": 100.0}
{"id": "MONDO:0010909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "UV-sensitive syndrome 1", "equivalent_identifiers": ["MONDO:0010909", "OMIM:600630", "UMLS:C3551173", "NCIT:C173106", "medgen:764087"], "information_content": 100.0}
{"id": "HP:0007623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigmentation anomalies of sun-exposed skin", "equivalent_identifiers": ["HP:0007623", "UMLS:C4024826"], "information_content": 100.0}
{"id": "MONDO:0010834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease, susceptibility to, 5", "equivalent_identifiers": ["MONDO:0010834", "OMIM:600156", "UMLS:C1970723", "medgen:410137"], "information_content": 100.0}
{"id": "MONDO:0032879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megabladder, congenital", "equivalent_identifiers": ["MONDO:0032879", "DOID:0112014", "OMIM:618719", "EFO:0010655", "UMLS:C5231472", "medgen:1684806"], "information_content": 100.0}
{"id": "MONDO:0859530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, sarcoplasmic body", "equivalent_identifiers": ["MONDO:0859530", "OMIM:620286", "UMLS:C5830362", "medgen:1840998"], "information_content": 100.0}
{"id": "HP:0034722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sarcoplasmic bodies", "equivalent_identifiers": ["HP:0034722"], "information_content": 100.0}
{"id": "MONDO:0030374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WHIM syndrome 2", "equivalent_identifiers": ["MONDO:0030374", "DOID:0060973", "OMIM:619407", "UMLS:C5543622", "medgen:1785594"], "information_content": 100.0}
{"id": "MONDO:0014755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin creases, congenital symmetric circumferential, 2", "equivalent_identifiers": ["MONDO:0014755", "DOID:0112243", "OMIM:616734", "UMLS:C4225225", "medgen:902880"], "information_content": 100.0}
{"id": "HP:0034400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Circumferential skin creases on extremities", "equivalent_identifiers": ["HP:0034400", "UMLS:C4231432"], "information_content": 100.0}
{"id": "MONDO:0009635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microvillus inclusion disease", "equivalent_identifiers": ["MONDO:0009635", "DOID:0060775", "OMIM:251850", "orphanet:2290", "UMLS:C0341306", "MESH:C537470", "MEDDRA:10068494", "MEDDRA:10068504", "SNOMEDCT:235729009", "medgen:137954", "ICD10:P78.3"], "information_content": 100.0}
{"id": "MONDO:0100045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermodysplasia verruciformis, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0100045", "OMIM:226400", "UMLS:C4722564", "medgen:1648341"], "information_content": 100.0}
{"id": "MONDO:0100215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rajab interstitial lung disease with brain calcifications 1", "equivalent_identifiers": ["MONDO:0100215", "OMIM:613658", "orphanet:178506", "UMLS:C5436276", "SNOMEDCT:720576001", "medgen:1750003"], "information_content": 100.0}
{"id": "MONDO:0010829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CARASIL syndrome", "equivalent_identifiers": ["MONDO:0010829", "OMIM:600142", "orphanet:199354", "UMLS:C1838577", "MESH:C563990", "MEDDRA:10081315", "MEDDRA:10081316", "NCIT:C202018", "SNOMEDCT:703219008", "medgen:325051", "icd11.foundation:984450655"], "information_content": 100.0}
{"id": "HP:0007162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse demyelination of the cerebral white matter", "equivalent_identifiers": ["HP:0007162", "UMLS:C4024930"], "information_content": 100.0}
{"id": "HP:0004931", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arteriosclerosis of small cerebral arteries", "equivalent_identifiers": ["HP:0004931", "UMLS:C4025270", "UMLS:C4280505"], "information_content": 100.0}
{"id": "MONDO:0859531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures", "equivalent_identifiers": ["MONDO:0859531", "OMIM:620292", "UMLS:C5830365", "medgen:1841001"], "information_content": 100.0}
{"id": "MONDO:0008026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures", "equivalent_identifiers": ["MONDO:0008026", "DOID:0070351", "OMIM:158600", "orphanet:209341", "UMLS:C5780022", "MESH:C563560", "NCIT:C191765", "medgen:1830501"], "information_content": 100.0}
{"id": "MONDO:0014745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 19", "equivalent_identifiers": ["MONDO:0014745", "DOID:0110673", "OMIM:616720", "UMLS:C4225235", "medgen:897962"], "information_content": 100.0}
{"id": "MONDO:0800130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory syndrome with immunodeficiency", "equivalent_identifiers": ["MONDO:0800130", "OMIM:619375", "UMLS:C5543547", "medgen:1784363"], "information_content": 100.0}
{"id": "MONDO:0003937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylitis", "equivalent_identifiers": ["MONDO:0003937", "DOID:6590", "UMLS:C0029644", "UMLS:C0038012", "MESH:D013166", "MEDDRA:10041673", "MEDDRA:10045966", "MEDDRA:10061371", "SNOMEDCT:399096009", "SNOMEDCT:84172003", "medgen:11560", "ICD10:M46", "ICD9:720.8", "HP:0033631"], "information_content": 88.2}
{"id": "HP:0033028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-U1 ribonucleoprotein antibody positivity", "equivalent_identifiers": ["HP:0033028", "UMLS:C5421559", "UMLS:C5539424", "UMLS:C5539425"], "information_content": 100.0}
{"id": "HP:0030384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased proportion of marginal zone B cells", "equivalent_identifiers": ["HP:0030384", "UMLS:C4072922"], "information_content": 100.0}
{"id": "MONDO:0012209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiogenic deafness syndrome", "equivalent_identifiers": ["MONDO:0012209", "OMIM:609166", "orphanet:50815", "UMLS:C1836673", "MESH:C563780", "SNOMEDCT:717944002", "medgen:322970"], "information_content": 100.0}
{"id": "MONDO:0010905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 1", "equivalent_identifiers": ["MONDO:0010905", "DOID:0111009", "OMIM:600624", "UMLS:C1833564", "MESH:C563469", "medgen:371596"], "information_content": 100.0}
{"id": "MONDO:0013837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome", "equivalent_identifiers": ["MONDO:0013837", "DOID:0070239", "OMIM:614651", "orphanet:254898", "UMLS:C3553354", "medgen:766268"], "information_content": 100.0}
{"id": "MONDO:0009794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome IV", "equivalent_identifiers": ["MONDO:0009794", "DOID:0060374", "OMIM:258860", "orphanet:2753", "UMLS:C0406727", "MESH:C537133", "SNOMEDCT:239031000", "medgen:98358"], "information_content": 100.0}
{"id": "MONDO:0013953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 28", "equivalent_identifiers": ["MONDO:0013953", "DOID:0111995", "OMIM:614889", "UMLS:C4013947", "NCIT:C176805", "medgen:862384"], "information_content": 100.0}
{"id": "MONDO:0054549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 10B", "equivalent_identifiers": ["MONDO:0054549", "DOID:0081440", "OMIM:617370", "UMLS:C4479254", "medgen:1379481"], "information_content": 100.0}
{"id": "MONDO:0013854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 17", "equivalent_identifiers": ["MONDO:0013854", "DOID:0110621", "OMIM:614679", "UMLS:C3542550", "medgen:762261"], "information_content": 100.0}
{"id": "MONDO:0013143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency", "equivalent_identifiers": ["MONDO:0013143", "DOID:0111903", "OMIM:613116", "orphanet:217467", "UMLS:C2751090", "UMLS:C2751091", "MESH:C567737", "medgen:416465", "icd11.foundation:1764310021"], "information_content": 100.0}
{"id": "HP:0004831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent thromboembolism", "equivalent_identifiers": ["HP:0004831", "UMLS:C0749398", "UMLS:C4025286"], "information_content": 100.0}
{"id": "HP:0040227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of histidine-rich glycoprotein", "equivalent_identifiers": ["HP:0040227", "UMLS:C4280716"], "information_content": 100.0}
{"id": "MONDO:0013352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0013352", "DOID:0111331", "OMIM:613670", "orphanet:391372", "UMLS:C4013764", "medgen:862201"], "information_content": 100.0}
{"id": "MONDO:0032883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures", "equivalent_identifiers": ["MONDO:0032883", "OMIM:618725", "EFO:0010660", "UMLS:C5231476", "medgen:1684850"], "information_content": 100.0}
{"id": "MONDO:0012608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 4", "equivalent_identifiers": ["MONDO:0012608", "DOID:0111213", "OMIM:611067", "orphanet:206580", "UMLS:C1970211", "MESH:C567023", "SNOMEDCT:771302009", "medgen:369682"], "information_content": 100.0}
{"id": "MONDO:0012316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Majeed syndrome", "equivalent_identifiers": ["MONDO:0012316", "OMIM:609628", "orphanet:77297", "UMLS:C1864997", "MESH:C537839", "MEDDRA:10072223", "NCIT:C119058", "SNOMEDCT:703540008", "medgen:351273", "icd11.foundation:1316564349"], "information_content": 100.0}
{"id": "MONDO:0014741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DeSanto-Shinawi syndrome due to WAC point mutation", "equivalent_identifiers": ["MONDO:0014741", "OMIM:616708", "orphanet:466950", "UMLS:C4225431", "UMLS:C5681129", "medgen:1841517"], "information_content": 100.0}
{"id": "MONDO:0007876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal abductor paralysis", "equivalent_identifiers": ["MONDO:0007876", "OMIM:150260", "orphanet:2808", "UMLS:C0396059", "MESH:C536354", "SNOMEDCT:232442001", "medgen:96004", "icd11.foundation:965049946"], "information_content": 100.0}
{"id": "MONDO:0027462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cutis laxa type 2C", "equivalent_identifiers": ["MONDO:0027462", "DOID:0070140", "OMIM:617402", "UMLS:C4479387", "medgen:1385755"], "information_content": 100.0}
{"id": "MONDO:0032888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies", "equivalent_identifiers": ["MONDO:0032888", "OMIM:618731", "UMLS:C5231481", "medgen:1684772"], "information_content": 100.0}
{"id": "MONDO:0009129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dwarfism, proportionate, with hip dislocation", "equivalent_identifiers": ["MONDO:0009129", "OMIM:223550", "UMLS:C1857196", "MESH:C565614", "medgen:347392"], "information_content": 100.0}
{"id": "MONDO:0009699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "action myoclonus-renal failure syndrome", "equivalent_identifiers": ["MONDO:0009699", "DOID:0111444", "OMIM:254900", "orphanet:163696", "UMLS:C0751779", "SNOMEDCT:764453009", "medgen:155629"], "information_content": 100.0}
{"id": "MONDO:0008800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia with limb anomalies", "equivalent_identifiers": ["MONDO:0008800", "DOID:0060861", "OMIM:206920", "orphanet:1106", "UMLS:C0599973", "MESH:C537769", "SNOMEDCT:703403003", "medgen:154638"], "information_content": 100.0}
{"id": "MONDO:0100151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephropathic cystinosis", "equivalent_identifiers": ["MONDO:0100151", "OMIM:219800", "UMLS:C2749685", "UMLS:C2930877", "UMLS:C2931187", "MESH:C535335", "MEDDRA:10071112", "NCIT:C129932", "medgen:419735", "icd11.foundation:810546659"], "information_content": 92.8}
{"id": "HP:0032639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated leukocyte cystine", "equivalent_identifiers": ["HP:0032639", "UMLS:C5397656"], "information_content": 100.0}
{"id": "HP:6001033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone marrow cystine accumulation", "equivalent_identifiers": ["HP:6001033", "UMLS:C5970365"], "information_content": 100.0}
{"id": "HP:6001032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic cystine accumulation", "equivalent_identifiers": ["HP:6001032", "UMLS:C5970364"], "information_content": 100.0}
{"id": "HP:6001031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cystine nephrolithiasis", "equivalent_identifiers": ["HP:6001031", "UMLS:C5970363"], "information_content": 100.0}
{"id": "MONDO:0009197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient erythroblastopenia of childhood", "equivalent_identifiers": ["MONDO:0009197", "OMIM:227050", "orphanet:98871", "UMLS:C0238478", "UMLS:C0451688", "MESH:C536980", "NCIT:C131683", "SNOMEDCT:191255003", "SNOMEDCT:234375006", "medgen:68670"], "information_content": 100.0}
{"id": "HP:0005510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient erythroblastopenia", "equivalent_identifiers": ["HP:0005510", "UMLS:C4082199"], "information_content": 100.0}
{"id": "MONDO:0013136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hypotrichosis with recurrent skin vesicles", "equivalent_identifiers": ["MONDO:0013136", "OMIM:613102", "orphanet:217407", "UMLS:C2751292", "MESH:C567751", "SNOMEDCT:724350009", "medgen:442697"], "information_content": 100.0}
{"id": "HP:0200037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin vesicle", "equivalent_identifiers": ["HP:0200037", "NCIT:C111969", "UMLS:C3814530", "SNOMEDCT:827008005"], "information_content": 95.4}
{"id": "MONDO:0014257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 9", "equivalent_identifiers": ["MONDO:0014257", "DOID:0080391", "OMIM:615573", "UMLS:C3809965", "medgen:816295"], "information_content": 100.0}
{"id": "MONDO:0020458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia due to erythrocyte adenosine deaminase overproduction", "equivalent_identifiers": ["MONDO:0020458", "DOID:0051008", "OMIM:301083", "orphanet:99138", "UMLS:C1863235", "MESH:C566314", "medgen:400240", "icd11.foundation:1200845933"], "information_content": 100.0}
{"id": "HP:4000184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte adenosine triphosphate concentration", "equivalent_identifiers": ["HP:4000184", "UMLS:C5826911"], "information_content": 100.0}
{"id": "MONDO:0011999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 3", "equivalent_identifiers": ["MONDO:0011999", "DOID:0060922", "OMIM:608244", "UMLS:C1842353", "MESH:C564268", "medgen:334054"], "information_content": 100.0}
{"id": "MONDO:0044303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects and ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0044303", "OMIM:617364", "UMLS:C4479250", "medgen:1387409"], "information_content": 100.0}
{"id": "OMIM:618057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monocyte Esterase Deficiency", "equivalent_identifiers": ["OMIM:618057", "UMLS:C1861889", "UMLS:C4748035", "UMLS:C4749152", "MESH:C566173"]}
{"id": "HP:0020169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal drug response", "equivalent_identifiers": ["HP:0020169", "UMLS:C5209254"], "information_content": 88.2}
{"id": "MONDO:0012757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome", "equivalent_identifiers": ["MONDO:0012757", "OMIM:611926", "orphanet:137631", "UMLS:C3150156", "UMLS:C4302919", "SNOMEDCT:721977007", "medgen:461506"], "information_content": 100.0}
{"id": "HP:0100765", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the tonsils", "equivalent_identifiers": ["HP:0100765", "UMLS:C4021975"], "information_content": 79.6}
{"id": "MONDO:0010311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Becker muscular dystrophy", "equivalent_identifiers": ["MONDO:0010311", "DOID:9883", "OMIM:300376", "orphanet:98895", "UMLS:C0699741", "UMLS:C0917713", "UMLS:C3490459", "MESH:C570377", "MEDDRA:10059117", "NCIT:C84587", "SNOMEDCT:193222002", "SNOMEDCT:387732009", "medgen:182959", "icd11.foundation:690532643"], "information_content": 95.4}
{"id": "MONDO:0012997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis-pigmentary retinopathy-cleft palate syndrome", "equivalent_identifiers": ["MONDO:0012997", "OMIM:301068", "orphanet:1415", "UMLS:C0795969", "MESH:C535632", "SNOMEDCT:720636001", "medgen:208652"], "information_content": 100.0}
{"id": "HP:0005209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intrahepatic bile duct cysts", "equivalent_identifiers": ["HP:0005209", "UMLS:C0400991", "SNOMEDCT:235925007"], "information_content": 100.0}
{"id": "HP:0031082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired growth-hormone response to glucagon stimulation test", "equivalent_identifiers": ["HP:0031082", "UMLS:C4476961"], "information_content": 100.0}
{"id": "HP:0031766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Convergence excess esotropia", "equivalent_identifiers": ["HP:0031766", "UMLS:C1960822", "SNOMEDCT:427113002"], "information_content": 100.0}
{"id": "MONDO:0011657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 24", "equivalent_identifiers": ["MONDO:0011657", "DOID:0110554", "OMIM:606282", "UMLS:C1853451", "MESH:C565239", "medgen:377905"], "information_content": 100.0}
{"id": "MONDO:0014272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, Nagashima type", "equivalent_identifiers": ["MONDO:0014272", "DOID:0070555", "OMIM:615598", "orphanet:140966", "UMLS:C3810072", "SNOMEDCT:722205008", "medgen:816402"], "information_content": 100.0}
{"id": "HP:0032007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maceration", "equivalent_identifiers": ["HP:0032007", "NCIT:C83472", "UMLS:C0558143", "MEDDRA:10048625", "SNOMEDCT:3644009"], "information_content": 100.0}
{"id": "MONDO:0010570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofrontonasal syndrome", "equivalent_identifiers": ["MONDO:0010570", "DOID:14737", "OMIM:304110", "orphanet:1520", "UMLS:C0220767", "MESH:C536456", "SNOMEDCT:715421009", "medgen:65095"], "information_content": 100.0}
{"id": "MONDO:0011273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "H syndrome", "equivalent_identifiers": ["MONDO:0011273", "DOID:0111278", "OMIM:602782", "orphanet:168569", "UMLS:C1864445", "UMLS:C2930890", "MESH:C535391", "MESH:C538322", "MEDDRA:10086258", "SNOMEDCT:711159002", "medgen:400532", "icd11.foundation:107155297"], "information_content": 100.0}
{"id": "HP:0033190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertrichotic hyperpigmented patch", "equivalent_identifiers": ["HP:0033190", "UMLS:C5421672"], "information_content": 100.0}
{"id": "MONDO:0018848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related retroperitoneal fibrosis", "equivalent_identifiers": ["MONDO:0018848", "orphanet:49041", "UMLS:C0035357", "UMLS:C4048297", "MESH:D012185", "MEDDRA:10016661", "MEDDRA:10021244", "MEDDRA:10038979", "MEDDRA:10085210", "NCIT:C123249", "NCIT:C26876", "SNOMEDCT:197808006", "SNOMEDCT:49120005", "medgen:20554", "icd11.foundation:900354709", "HP:0005200"], "information_content": 95.4}
{"id": "MONDO:0013466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 13", "equivalent_identifiers": ["MONDO:0013466", "DOID:0080406", "OMIM:613857", "UMLS:C3151222", "medgen:462572"], "information_content": 100.0}
{"id": "OMIM:612591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 10", "equivalent_identifiers": ["OMIM:612591", "UMLS:C2675481"]}
{"id": "MONDO:0010043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 17", "equivalent_identifiers": ["MONDO:0010043", "DOID:0110770", "OMIM:270685", "orphanet:100998", "UMLS:C2931276", "MESH:C536644", "SNOMEDCT:230263009", "medgen:419034"], "information_content": 100.0}
{"id": "MONDO:0011913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 3", "equivalent_identifiers": ["MONDO:0011913", "DOID:0110042", "OMIM:607822", "UMLS:C1843013", "UMLS:C1843014", "UMLS:C1843015", "MESH:C536598", "MESH:C564329", "MESH:C564330", "NCIT:C123412", "medgen:334304"], "information_content": 100.0}
{"id": "HP:0031868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Optic ataxia", "equivalent_identifiers": ["HP:0031868", "UMLS:C4703584", "SNOMEDCT:1231201006"], "information_content": 100.0}
{"id": "MONDO:0010842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple cutaneous and mucosal venous malformations", "equivalent_identifiers": ["MONDO:0010842", "DOID:0050792", "OMIM:600195", "orphanet:2451", "UMLS:C1838437", "MESH:C563977", "SNOMEDCT:699301008", "medgen:325026"], "information_content": 100.0}
{"id": "MONDO:0859380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic kinesigenic dyskinesia 3", "equivalent_identifiers": ["MONDO:0859380", "DOID:0060944", "OMIM:620245", "UMLS:C5830280", "medgen:1840916"], "information_content": 100.0}
{"id": "MONDO:0030059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 87", "equivalent_identifiers": ["MONDO:0030059", "DOID:0112221", "OMIM:618916", "UMLS:C5394501", "medgen:1719688"], "information_content": 100.0}
{"id": "MONDO:0011919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune disease, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0011919", "OMIM:607836", "UMLS:C1842979", "medgen:335848"], "information_content": 100.0}
{"id": "MONDO:0007446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatosis papulosa nigra", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007446", "DOID:4400", "OMIM:125600", "EFO:1000686", "UMLS:C0011645", "MESH:C562379", "MEDDRA:10057063", "NCIT:C2984", "SNOMEDCT:103672009", "SNOMEDCT:254669003", "medgen:4238", "icd11.foundation:168986957", "ICD10:L82"], "information_content": 100.0}
{"id": "MONDO:0013457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 15", "equivalent_identifiers": ["MONDO:0013457", "DOID:0110189", "OMIM:613843", "UMLS:C3151206", "medgen:462556"], "information_content": 100.0}
{"id": "MONDO:0010712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panhypopituitarism, X-linked", "equivalent_identifiers": ["MONDO:0010712", "DOID:0111779", "OMIM:312000", "UMLS:C0342376", "MESH:C538613", "SNOMEDCT:237683004", "medgen:87439"], "information_content": 100.0}
{"id": "MONDO:0007369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary coproporphyria", "equivalent_identifiers": ["MONDO:0007369", "DOID:13269", "OMIM:121300", "orphanet:79273", "UMLS:C0162531", "MESH:D046349", "MEDDRA:10019866", "NCIT:C84759", "SNOMEDCT:7425008", "medgen:57931", "icd11.foundation:1365918274", "ICD10:E80.29"], "information_content": 100.0}
{"id": "HP:6000698", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating heptacarboxylporphyrin concentration", "equivalent_identifiers": ["HP:6000698", "UMLS:C5937434"], "information_content": 100.0}
{"id": "HP:0033010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal coproporphyrin 3", "equivalent_identifiers": ["HP:0033010", "UMLS:C5397996"], "information_content": 100.0}
{"id": "HP:0034471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal coproporphyrin III:coproporphyrin I ratio", "equivalent_identifiers": ["HP:0034471", "UMLS:C5826417"], "information_content": 100.0}
{"id": "MONDO:0957812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 112", "equivalent_identifiers": ["MONDO:0957812", "OMIM:620537", "UMLS:C5882700", "medgen:1845523"], "information_content": 100.0}
{"id": "HP:0032712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal impaired awareness motor seizure", "equivalent_identifiers": ["HP:0032712", "UMLS:C5397722", "SNOMEDCT:1269358004"], "information_content": 78.8}
{"id": "HP:0020217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal aware motor seizure", "equivalent_identifiers": ["HP:0020217"], "information_content": 78.8}
{"id": "MONDO:0013930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 4A (Zellweger)", "equivalent_identifiers": ["MONDO:0013930", "DOID:0080479", "OMIM:614862", "UMLS:C1832230", "UMLS:C1832231", "UMLS:C1832232", "UMLS:C3553936", "MESH:C563301", "NCIT:C155754", "medgen:766850"], "information_content": 100.0}
{"id": "HP:0034553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absence of peroxisomes", "equivalent_identifiers": ["HP:0034553", "UMLS:C4314641"], "information_content": 100.0}
{"id": "MONDO:0026777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VEXAS syndrome", "equivalent_identifiers": ["MONDO:0026777", "DOID:0080828", "OMIM:301054", "orphanet:596753", "UMLS:C5435753", "MESH:C000721467", "MEDDRA:10085860", "NCIT:C181924", "SNOMEDCT:1290093003", "medgen:1765785"], "information_content": 100.0}
{"id": "HP:0200047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chondritis of pinna", "equivalent_identifiers": ["HP:0200047", "UMLS:C0741305", "MEDDRA:10083111"], "information_content": 100.0}
{"id": "HP:0033380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal chondritis", "equivalent_identifiers": ["HP:0033380", "UMLS:C0151219"], "information_content": 100.0}
{"id": "MONDO:0008300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome", "equivalent_identifiers": ["MONDO:0008300", "DOID:11983", "OMIM:176270", "orphanet:739", "UMLS:C0032897", "UMLS:C1867858", "UMLS:C1867859", "MESH:C566764", "MESH:D011218", "MEDDRA:10036476", "NCIT:C75463", "SNOMEDCT:89392001", "medgen:46057", "icd11.foundation:393773440", "ICD10:Q87.11", "ICD9:759.81"], "information_content": 86.3}
{"id": "HP:0030919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low 5-minute APGAR score", "equivalent_identifiers": ["HP:0030919", "UMLS:C4476849"], "information_content": 86.3}
{"id": "HP:0030918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low 1-minute APGAR score", "equivalent_identifiers": ["HP:0030918", "UMLS:C4476848"], "information_content": 86.3}
{"id": "MONDO:0008158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dacryocystitis-osteopoikilosis syndrome", "equivalent_identifiers": ["MONDO:0008158", "OMIM:166705", "UMLS:C1833698", "MESH:C536061", "SNOMEDCT:721082002", "medgen:318939"], "information_content": 100.0}
{"id": "MONDO:0014830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 20", "equivalent_identifiers": ["MONDO:0014830", "DOID:0111055", "OMIM:616913", "orphanet:466806", "UMLS:C4310797", "medgen:934764"], "information_content": 100.0}
{"id": "MONDO:0010327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HSD10 mitochondrial disease", "equivalent_identifiers": ["MONDO:0010327", "DOID:0060810", "OMIM:300438", "orphanet:391417", "UMLS:C3266731", "MESH:C536080", "MESH:C564560", "SNOMEDCT:791000124107", "SNOMEDCT:801000124108", "medgen:781653", "ICD10:G25.5"], "information_content": 90.9}
{"id": "HP:0034290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating tiglylglycine concentration", "equivalent_identifiers": ["HP:0034290", "UMLS:C5706146"], "information_content": 100.0}
{"id": "MONDO:0009925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive inherited pseudoxanthoma elasticum", "equivalent_identifiers": ["MONDO:0009925", "DOID:2738", "OMIM:264800", "orphanet:758", "UMLS:C0376359", "UMLS:C1275116", "UMLS:C3279392", "MESH:D011561", "NCIT:C85036", "SNOMEDCT:402782006", "SNOMEDCT:403812000", "SNOMEDCT:72744008", "medgen:698415", "icd11.foundation:1516160852"], "information_content": 100.0}
{"id": "HP:0032553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weak pulse", "equivalent_identifiers": ["HP:0032553", "NCIT:C50533", "UMLS:C0232132", "MEDDRA:10016676", "MEDDRA:10037492", "MEDDRA:10037494", "MEDDRA:10043501", "SNOMEDCT:315225007", "SNOMEDCT:64661000"], "information_content": 100.0}
{"id": "HP:0033026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White oral mucosal macule", "equivalent_identifiers": ["HP:0033026", "UMLS:C5398009"], "information_content": 100.0}
{"id": "HP:0025115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Civatte bodies", "equivalent_identifiers": ["HP:0025115"], "information_content": 100.0}
{"id": "MONDO:0014827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 76", "equivalent_identifiers": ["MONDO:0014827", "DOID:0110821", "OMIM:616907", "orphanet:488594", "EFO:0009019", "UMLS:C5567483", "SNOMEDCT:1172631001", "medgen:1798906"], "information_content": 100.0}
{"id": "MONDO:0054860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 110", "equivalent_identifiers": ["MONDO:0054860", "DOID:0111644", "OMIM:618094", "UMLS:C4748162", "medgen:1648377"], "information_content": 100.0}
{"id": "MONDO:0010519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ATR-X syndrome", "equivalent_identifiers": ["MONDO:0010519", "DOID:0110030", "OMIM:301040", "orphanet:847", "UMLS:C1845055", "MESH:C538258", "MEDDRA:10083889", "MEDDRA:10083890", "MEDDRA:10083895", "NCIT:C118631", "SNOMEDCT:715342005", "medgen:337145"], "information_content": 100.0}
{"id": "MONDO:0010939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "low phospholipid associated cholelithiasis", "equivalent_identifiers": ["MONDO:0010939", "OMIM:600803", "orphanet:69663", "UMLS:C2609268", "MEDDRA:10068936", "SNOMEDCT:715577009", "medgen:760527", "icd11.foundation:1261516421"], "information_content": 100.0}
{"id": "HP:0011980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cholesterol gallstones", "equivalent_identifiers": ["HP:0011980", "UMLS:C0856727", "MEDDRA:10008659"], "information_content": 100.0}
{"id": "MONDO:0013942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 8A (Zellweger)", "equivalent_identifiers": ["MONDO:0013942", "DOID:0080483", "OMIM:614876", "UMLS:C1863998", "UMLS:C1863999", "UMLS:C3553959", "MESH:C566387", "MESH:C566388", "NCIT:C155762", "medgen:766873"], "information_content": 100.0}
{"id": "MONDO:0009012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple pterygium-malignant hyperthermia syndrome", "equivalent_identifiers": ["MONDO:0009012", "OMIM:217150", "orphanet:2215", "UMLS:C1857576", "MESH:C565679", "medgen:347490"], "information_content": 100.0}
{"id": "MONDO:0013686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal myopathy, Tateyama type", "equivalent_identifiers": ["MONDO:0013686", "DOID:0111191", "OMIM:614321", "orphanet:488650", "UMLS:C3280443", "SNOMEDCT:711265009", "medgen:482073"], "information_content": 100.0}
{"id": "MONDO:0008408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scapuloperoneal spinal muscular atrophy, autosomal dominant", "equivalent_identifiers": ["MONDO:0008408", "DOID:0111552", "OMIM:181405", "orphanet:431255", "EFO:1001992", "UMLS:C0751335", "SNOMEDCT:230248006", "medgen:148283"], "information_content": 100.0}
{"id": "MONDO:0030472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 98", "equivalent_identifiers": ["MONDO:0030472", "DOID:0070384", "OMIM:619605", "UMLS:C5562017", "medgen:1794227"], "information_content": 100.0}
{"id": "MONDO:0031077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 76", "equivalent_identifiers": ["MONDO:0031077", "DOID:0070575", "OMIM:620084", "UMLS:C5774236", "medgen:1824009"], "information_content": 100.0}
{"id": "HP:0025011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyriform aperture stenosis", "equivalent_identifiers": ["HP:0025011", "UMLS:C3839990", "MEDDRA:10089480", "SNOMEDCT:702644002"], "information_content": 100.0}
{"id": "HP:0010644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midnasal stenosis", "equivalent_identifiers": ["HP:0010644", "UMLS:C1840238"], "information_content": 95.4}
{"id": "HP:0002708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent median palatal raphe", "equivalent_identifiers": ["HP:0002708", "UMLS:C1845108"], "information_content": 100.0}
{"id": "MONDO:0010619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dominant hypophosphatemic rickets", "equivalent_identifiers": ["MONDO:0010619", "DOID:0050445", "OMIM:307800", "orphanet:89936", "UMLS:C0733682", "UMLS:C2363065", "UMLS:C2363067", "UMLS:C3536984", "MEDDRA:10039120", "MEDDRA:10039121", "MEDDRA:10047578", "NCIT:C85234", "SNOMEDCT:82236004", "medgen:196551"], "information_content": 100.0}
{"id": "HP:0006432", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trapezoidal distal femoral condyles", "equivalent_identifiers": ["HP:0006432", "UMLS:C1843983"], "information_content": 100.0}
{"id": "HP:0008117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of the talar neck", "equivalent_identifiers": ["HP:0008117", "UMLS:C1843985"], "information_content": 100.0}
{"id": "HP:0004273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cupped metaphyses of hand bones", "equivalent_identifiers": ["HP:0004273", "UMLS:C4025377"], "information_content": 100.0}
{"id": "HP:0008144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattening of the talar dome", "equivalent_identifiers": ["HP:0008144", "UMLS:C1843986"], "information_content": 100.0}
{"id": "MONDO:0013226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency with faciooculoskeletal anomalies", "equivalent_identifiers": ["MONDO:0013226", "OMIM:613328", "orphanet:221139", "UMLS:C2750068", "MESH:C567641", "SNOMEDCT:770625006", "medgen:442377"], "information_content": 100.0}
{"id": "MONDO:0014432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 2", "equivalent_identifiers": ["MONDO:0014432", "DOID:0110124", "OMIM:615981", "UMLS:C2936863", "MESH:C537910", "medgen:422453"], "information_content": 100.0}
{"id": "HP:0032285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ultra-low vision with retained light projection", "equivalent_identifiers": ["HP:0032285", "UMLS:C5139242"], "information_content": 100.0}
{"id": "MONDO:0014446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 18", "equivalent_identifiers": ["MONDO:0014446", "DOID:0110140", "OMIM:615995", "UMLS:C3806174", "medgen:812504"], "information_content": 100.0}
{"id": "MONDO:0010122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital thrombotic thrombocytopenic purpura", "equivalent_identifiers": ["MONDO:0010122", "OMIM:274150", "orphanet:93583", "UMLS:C1268935", "UMLS:C1956258", "MEDDRA:10091107", "MEDDRA:10091188", "NCIT:C131657", "SNOMEDCT:373420004", "medgen:224783"], "information_content": 100.0}
{"id": "MONDO:0030926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 51", "equivalent_identifiers": ["MONDO:0030926", "DOID:0112273", "OMIM:619177", "UMLS:C5543033", "medgen:1780365"], "information_content": 100.0}
{"id": "MONDO:0030608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial lung disease 1", "equivalent_identifiers": ["MONDO:0030608", "DOID:0060941", "OMIM:619611", "UMLS:C5562021", "medgen:1794231"], "information_content": 100.0}
{"id": "HP:0032987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated bronchoalveolar lavage fluid eosinophil proportion", "equivalent_identifiers": ["HP:0032987", "UMLS:C5397979"], "information_content": 100.0}
{"id": "MONDO:0024541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichohepatoenteric syndrome 1", "equivalent_identifiers": ["MONDO:0024541", "DOID:0111415", "OMIM:222470", "UMLS:C4551982", "medgen:1644087"], "information_content": 100.0}
{"id": "HP:0006267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large placenta", "equivalent_identifiers": ["HP:0006267", "UMLS:C0566693", "SNOMEDCT:289263000"], "information_content": 90.9}
{"id": "MONDO:0002356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreas disorder", "equivalent_identifiers": ["MONDO:0002356", "DOID:26", "EFO:0009605", "UMLS:C0029771", "UMLS:C0030286", "UMLS:C4025751", "MESH:D010182", "MEDDRA:10013250", "MEDDRA:10033581", "MEDDRA:10033616", "MEDDRA:10033617", "MEDDRA:10045751", "NCIT:C26842", "SNOMEDCT:3855007", "medgen:14583", "ICD10:K86.8", "ICD9:577.8", "HP:0001732"], "information_content": 60.6}
{"id": "HP:0001194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormalities of placenta or umbilical cord", "equivalent_identifiers": ["HP:0001194", "UMLS:C4025798"], "information_content": 66.5}
{"id": "MONDO:0012420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 49", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012420", "DOID:0110506", "OMIM:610153", "UMLS:C1857811", "MESH:C565717", "NCIT:C129024", "medgen:346670"], "information_content": 100.0}
{"id": "MONDO:0011355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 7", "equivalent_identifiers": ["MONDO:0011355", "DOID:0111012", "OMIM:603649", "UMLS:C1863634", "MESH:C566350", "medgen:355026"], "information_content": 100.0}
{"id": "MONDO:0013698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 1B", "equivalent_identifiers": ["MONDO:0013698", "DOID:0111598", "OMIM:614335", "UMLS:C3280526", "medgen:482156"], "information_content": 100.0}
{"id": "MONDO:0010038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth delay due to insulin-like growth factor I resistance", "equivalent_identifiers": ["MONDO:0010038", "OMIM:270450", "orphanet:73273", "UMLS:C1849157", "UMLS:C1849158", "MESH:C564816", "MESH:C564817", "NCIT:C120107", "SNOMEDCT:715625007", "medgen:338622", "icd11.foundation:272435490"], "information_content": 100.0}
{"id": "MONDO:0008814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Argininemia", "equivalent_identifiers": ["MONDO:0008814", "DOID:9278", "OMIM:207800", "orphanet:90", "UMLS:C0268548", "MESH:D020162", "MEDDRA:10062695", "MEDDRA:10083974", "MEDDRA:10090356", "MEDDRA:10090357", "NCIT:C84568", "SNOMEDCT:23501004", "medgen:78688", "icd11.foundation:1619102598", "ICD10:E72.21"], "information_content": 100.0}
{"id": "HP:4000203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte arginase activity", "equivalent_identifiers": ["HP:4000203", "UMLS:C5872952"], "information_content": 100.0}
{"id": "HP:0008339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diaminoaciduria", "equivalent_identifiers": ["HP:0008339", "UMLS:C4024698"], "information_content": 92.8}
{"id": "MONDO:0011252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Shohat type", "equivalent_identifiers": ["MONDO:0011252", "OMIM:602557", "orphanet:93352", "UMLS:C1865185", "MESH:C566523", "SNOMEDCT:719201004", "medgen:400703", "icd11.foundation:1389783101"], "information_content": 100.0}
{"id": "HP:0008463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central vertebral hypoplasia", "equivalent_identifiers": ["HP:0008463", "UMLS:C4024672"], "information_content": 100.0}
{"id": "MONDO:0010989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mayer-Rokitansky-Küster-Hauser syndrome type 2", "equivalent_identifiers": ["MONDO:0010989", "DOID:0112179", "OMIM:601076", "orphanet:2578", "UMLS:C4305568", "SNOMEDCT:717705004", "medgen:931237", "icd11.foundation:1521808255"], "information_content": 100.0}
{"id": "MONDO:0859207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and gross motor and speech delay", "equivalent_identifiers": ["MONDO:0859207", "OMIM:619639", "UMLS:C5562031", "medgen:1794241"], "information_content": 100.0}
{"id": "MONDO:0010444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia", "equivalent_identifiers": ["MONDO:0010444", "DOID:0112156", "OMIM:300835", "orphanet:363727", "UMLS:C3550856", "medgen:763770"], "information_content": 100.0}
{"id": "HP:0004312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal reticulocyte morphology", "equivalent_identifiers": ["HP:0004312", "UMLS:C4025358"], "information_content": 88.2}
{"id": "OMIM:606719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELANOMA-PANCREATIC CANCER SYNDROME", "equivalent_identifiers": ["OMIM:606719", "UMLS:C1838547", "MESH:C563985", "NCIT:C176904"], "information_content": 100.0}
{"id": "MONDO:0018521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squamous cell carcinoma of pancreas", "equivalent_identifiers": ["MONDO:0018521", "DOID:0080323", "orphanet:424039", "UMLS:C2675993", "NCIT:C173813", "medgen:393937", "HP:0012142"], "information_content": 95.4}
{"id": "MONDO:0007121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia, microcornea, and spontaneously Reabsorbed cataract", "equivalent_identifiers": ["MONDO:0007121", "OMIM:106230", "UMLS:C1862867", "MESH:C566280", "medgen:350777"], "information_content": 100.0}
{"id": "MONDO:0032798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features", "equivalent_identifiers": ["MONDO:0032798", "OMIM:618527", "UMLS:C5193147", "medgen:1682428"], "information_content": 100.0}
{"id": "MONDO:0010785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternally-inherited diabetes and deafness", "equivalent_identifiers": ["MONDO:0010785", "OMIM:520000", "UMLS:C0342289", "UMLS:C4330695", "MESH:C536246", "MEDDRA:10086189", "NCIT:C130996", "NCIT:C131859", "SNOMEDCT:237619009", "medgen:90979"], "information_content": 100.0}
{"id": "MONDO:0032624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 19", "equivalent_identifiers": ["MONDO:0032624", "DOID:0112085", "OMIM:618241", "UMLS:C4748791", "medgen:1648450"], "information_content": 100.0}
{"id": "MONDO:0011821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 3", "equivalent_identifiers": ["MONDO:0011821", "DOID:0070117", "OMIM:607361", "UMLS:C1846357", "MESH:C536132", "medgen:335402"], "information_content": 100.0}
{"id": "MONDO:0008645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome", "equivalent_identifiers": ["MONDO:0008645", "OMIM:192445", "orphanet:3201", "UMLS:C1860471", "UMLS:C4304408", "MESH:C537497", "SNOMEDCT:719823007", "medgen:395493"], "information_content": 100.0}
{"id": "HP:0009087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posteriorly placed tongue", "equivalent_identifiers": ["HP:0009087", "UMLS:C4024600"], "information_content": 100.0}
{"id": "MONDO:0014949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 47", "equivalent_identifiers": ["MONDO:0014949", "DOID:0080425", "OMIM:617166", "UMLS:C4310685", "NCIT:C201514", "medgen:934652"], "information_content": 100.0}
{"id": "MONDO:0014564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 5", "equivalent_identifiers": ["MONDO:0014564", "DOID:0111066", "OMIM:616278", "UMLS:C4225390", "medgen:904751"], "information_content": 100.0}
{"id": "MONDO:0014341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 6", "equivalent_identifiers": ["MONDO:0014341", "DOID:0090136", "OMIM:615771", "UMLS:C4014283", "medgen:862720"], "information_content": 100.0}
{"id": "MONDO:0010555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked chondrodysplasia punctata 1", "equivalent_identifiers": ["MONDO:0010555", "OMIM:302950", "orphanet:79345", "UMLS:C3669395", "MESH:C580533", "medgen:777171"], "information_content": 100.0}
{"id": "MONDO:0007809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis histrix, Lambert type", "equivalent_identifiers": ["MONDO:0007809", "OMIM:146600", "UMLS:C0432311", "MESH:C536087", "SNOMEDCT:1255143006", "SNOMEDCT:254174005", "medgen:98487"], "information_content": 100.0}
{"id": "MONDO:0032802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 37", "equivalent_identifiers": ["MONDO:0032802", "DOID:0070601", "OMIM:618533", "UMLS:C4760307", "medgen:1676950"], "information_content": 100.0}
{"id": "MONDO:0030910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 45", "equivalent_identifiers": ["MONDO:0030910", "DOID:0080236", "OMIM:617600", "UMLS:C4539848", "medgen:1616472"], "information_content": 100.0}
{"id": "MONDO:0031060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 29, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0031060", "DOID:0051040", "OMIM:620047", "UMLS:C5774220", "medgen:1823993"], "information_content": 100.0}
{"id": "MONDO:0008396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculodental syndrome, Rutherfurd type", "equivalent_identifiers": ["MONDO:0008396", "OMIM:180900", "orphanet:2709", "UMLS:C0796140", "MESH:C537732", "SNOMEDCT:699754008", "medgen:163222", "icd11.foundation:183543626"], "information_content": 100.0}
{"id": "MONDO:0008260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kindler syndrome", "equivalent_identifiers": ["MONDO:0008260", "DOID:0060472", "OMIM:173650", "orphanet:2908", "UMLS:C0406557", "MESH:C536321", "MEDDRA:10087383", "MEDDRA:10087385", "SNOMEDCT:238836000", "medgen:96060", "icd11.foundation:726317303"], "information_content": 95.4}
{"id": "HP:0031045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acral blistering", "equivalent_identifiers": ["HP:0031045", "UMLS:C4476927"], "information_content": 100.0}
{"id": "HP:6000714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced epidermal kindlin-1 expression", "equivalent_identifiers": ["HP:6000714", "UMLS:C5937449"], "information_content": 100.0}
{"id": "HP:0007488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse skin atrophy", "equivalent_identifiers": ["HP:0007488", "UMLS:C4024863"], "information_content": 95.4}
{"id": "MONDO:0007435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentatorubral-pallidoluysian atrophy", "equivalent_identifiers": ["MONDO:0007435", "DOID:0060162", "OMIM:125370", "orphanet:101", "UMLS:C0751781", "UMLS:C2931846", "MESH:C538427", "MEDDRA:10075298", "NCIT:C122653", "SNOMEDCT:68116008", "medgen:155630"], "information_content": 100.0}
{"id": "HP:0007047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy of the dentate nucleus", "equivalent_identifiers": ["HP:0007047", "UMLS:C1857788"], "information_content": 100.0}
{"id": "MONDO:0014409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 44", "equivalent_identifiers": ["MONDO:0014409", "DOID:0081208", "OMIM:615942", "UMLS:C4014745", "medgen:863182"], "information_content": 100.0}
{"id": "MONDO:0011570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2B2", "equivalent_identifiers": ["MONDO:0011570", "DOID:0110179", "OMIM:605589", "orphanet:101101", "UMLS:C1854150", "MESH:C537991", "SNOMEDCT:719981005", "medgen:381352", "icd11.foundation:2009111705"], "information_content": 100.0}
{"id": "MONDO:0008325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoatrophoderma colli", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008325", "OMIM:177350", "UMLS:C0406561", "MESH:C562909", "SNOMEDCT:238840009", "medgen:96061"], "information_content": 100.0}
{"id": "MONDO:0014570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 8", "equivalent_identifiers": ["MONDO:0014570", "OMIM:616287", "UMLS:C4225385", "medgen:896058"], "information_content": 100.0}
{"id": "MONDO:0009383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient familial neonatal hyperbilirubinemia", "equivalent_identifiers": ["MONDO:0009383", "OMIM:237900", "orphanet:2312", "UMLS:C0270210", "UMLS:C0270215", "MESH:C562692", "MEDDRA:10072192", "NCIT:C98846", "SNOMEDCT:47444008", "SNOMEDCT:82696006", "medgen:75718"], "information_content": 100.0}
{"id": "HP:0008176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal unconjugated hyperbilirubinemia", "equivalent_identifiers": ["HP:0008176", "UMLS:C0559506", "SNOMEDCT:281611002"], "information_content": 100.0}
{"id": "MONDO:0010881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesomelia-synostoses syndrome", "equivalent_identifiers": ["MONDO:0010881", "OMIM:600383", "orphanet:2496", "UMLS:C1838162", "MESH:C537348", "SNOMEDCT:724147004", "medgen:324959"], "information_content": 100.0}
{"id": "HP:0005694", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial fusion of proximal row of carpal bones", "equivalent_identifiers": ["HP:0005694", "UMLS:C3152021"], "information_content": 100.0}
{"id": "HP:0005891", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive forearm bowing", "equivalent_identifiers": ["HP:0005891", "UMLS:C3152020"], "information_content": 100.0}
{"id": "HP:0005096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal femoral bowing", "equivalent_identifiers": ["HP:0005096", "UMLS:C1860107"], "information_content": 100.0}
{"id": "HP:0100329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tarsometatarsal synostosis", "equivalent_identifiers": ["HP:0100329", "UMLS:C4022144"], "information_content": 100.0}
{"id": "HP:0100328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpometacarpal synostosis", "equivalent_identifiers": ["HP:0100328", "UMLS:C4022145"], "information_content": 95.4}
{"id": "MONDO:0012153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 9", "equivalent_identifiers": ["MONDO:0012153", "DOID:0111364", "OMIM:608907", "UMLS:C1837149", "UMLS:C4282179", "MESH:C563834", "medgen:924255"], "information_content": 100.0}
{"id": "MONDO:0044725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to GINS1 deficiency", "equivalent_identifiers": ["MONDO:0044725", "DOID:0111993", "OMIM:617827", "orphanet:505227", "UMLS:C5568132", "SNOMEDCT:1179286007", "medgen:1799555"], "information_content": 100.0}
{"id": "HP:0040219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent natural killer cells", "equivalent_identifiers": ["HP:0040219", "UMLS:C4073163"], "information_content": 92.8}
{"id": "MONDO:0020793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngodistal myopathy 1", "equivalent_identifiers": ["MONDO:0020793", "DOID:0081297", "OMIM:164310", "UMLS:C5231388", "medgen:1684682"], "information_content": 100.0}
{"id": "MONDO:0008831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 1", "equivalent_identifiers": ["MONDO:0008831", "DOID:0110085", "OMIM:208500", "UMLS:C4551856", "medgen:1648057"], "information_content": 100.0}
{"id": "HP:0008797", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early ossification of capital femoral epiphyses", "equivalent_identifiers": ["HP:0008797", "UMLS:C4024621"], "information_content": 100.0}
{"id": "MONDO:0009504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 9", "equivalent_identifiers": ["MONDO:0009504", "DOID:0080128", "OMIM:245400", "orphanet:17", "UMLS:C2931744", "UMLS:C3151476", "UMLS:C3502298", "UMLS:C4275183", "MESH:C538134", "MESH:C566885", "NCIT:C183531", "SNOMEDCT:715338007", "medgen:462826"], "information_content": 100.0}
{"id": "MONDO:0032654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgE recurrent infection syndrome 3, autosomal recessive", "equivalent_identifiers": ["MONDO:0032654", "DOID:0080595", "OMIM:618282", "orphanet:641368", "UMLS:C4748969", "medgen:1648483"], "information_content": 100.0}
{"id": "MONDO:0100073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methicillin-resistant staphylococcus aureus infectious disease", "equivalent_identifiers": ["MONDO:0100073", "EFO:0008555", "UMLS:C0343401", "MEDDRA:10021839", "MEDDRA:10027508", "MEDDRA:10069145", "NCIT:C115248", "SNOMEDCT:266096002", "medgen:575565", "HP:0032326"], "information_content": 95.4}
{"id": "MONDO:0010258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEHMO syndrome", "equivalent_identifiers": ["MONDO:0010258", "DOID:0060801", "OMIM:300148", "orphanet:85282", "UMLS:C1846278", "MESH:C537451", "SNOMEDCT:722037004", "medgen:375855", "icd11.foundation:500681653"], "information_content": 100.0}
{"id": "MONDO:0011963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 2", "equivalent_identifiers": ["MONDO:0011963", "DOID:0110988", "OMIM:608091", "UMLS:C1842577", "MESH:C536294", "medgen:334114"], "information_content": 100.0}
{"id": "MONDO:0010023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to ZAP70 deficiency", "equivalent_identifiers": ["MONDO:0010023", "DOID:0111943", "OMIM:269840", "orphanet:911", "UMLS:C1849236", "UMLS:C2931299", "UMLS:C5575025", "MESH:C536722", "MESH:C537590", "NCIT:C176821", "SNOMEDCT:716378008", "medgen:1809040", "icd11.foundation:1718367094"], "information_content": 100.0}
{"id": "MONDO:0030934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 64", "equivalent_identifiers": ["MONDO:0030934", "DOID:0061037", "OMIM:619188", "UMLS:C5543067", "medgen:1784554"], "information_content": 100.0}
{"id": "MONDO:0859238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoalphalipoproteinemia, primary, 2, intermediate", "equivalent_identifiers": ["MONDO:0859238", "OMIM:619836", "UMLS:C5677030", "medgen:1801755"], "information_content": 100.0}
{"id": "MONDO:0007070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adiposis dolorosa", "equivalent_identifiers": ["MONDO:0007070", "DOID:3928", "OMIM:103200", "orphanet:36397", "EFO:1000667", "UMLS:C0001529", "MESH:D000274", "MEDDRA:10001294", "MEDDRA:10012421", "NCIT:C84540", "SNOMEDCT:71404003", "medgen:1757"], "information_content": 100.0}
{"id": "HP:0007596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Painful subcutaneous lipomas", "equivalent_identifiers": ["HP:0007596", "UMLS:C4024838"], "information_content": 100.0}
{"id": "MONDO:0013656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NESCAV syndrome", "equivalent_identifiers": ["MONDO:0013656", "DOID:0070039", "OMIM:614255", "orphanet:662367", "UMLS:C3280283", "UMLS:C5393830", "NCIT:C133742", "medgen:1714250"], "information_content": 100.0}
{"id": "MONDO:0011743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 4", "equivalent_identifiers": ["MONDO:0011743", "DOID:0110040", "OMIM:606889", "UMLS:C1847200", "MESH:C536596", "NCIT:C123413", "medgen:376072"], "information_content": 100.0}
{"id": "MONDO:0003039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nominal aphasia", "equivalent_identifiers": ["MONDO:0003039", "DOID:4541", "UMLS:C0003113", "MESH:D000849", "MEDDRA:10002638", "MEDDRA:10002950", "MEDDRA:10029503", "MEDDRA:10054097", "MEDDRA:10054098", "MEDDRA:10054194", "MEDDRA:10070079", "NCIT:C34386", "SNOMEDCT:10325006", "medgen:312", "HP:0030784"], "information_content": 100.0}
{"id": "HP:0012662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parietal hypometabolism in FDG PET", "equivalent_identifiers": ["HP:0012662", "UMLS:C4022794"], "information_content": 100.0}
{"id": "MONDO:0054805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 22, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0054805", "DOID:0051033", "OMIM:617984", "UMLS:C4693834", "medgen:1635688"], "information_content": 100.0}
{"id": "MONDO:0014586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 4B", "equivalent_identifiers": ["MONDO:0014586", "DOID:0110677", "OMIM:616324", "UMLS:C4225369", "medgen:904424"], "information_content": 100.0}
{"id": "HP:0030197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of skeletal muscles", "equivalent_identifiers": ["HP:0030197", "UMLS:C4022586"], "information_content": 90.9}
{"id": "MONDO:0007148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "appendicitis, proneness to", "equivalent_identifiers": ["MONDO:0007148", "OMIM:107700", "UMLS:C1862632", "medgen:400099"], "information_content": 100.0}
{"id": "HP:0002250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal large intestine morphology", "equivalent_identifiers": ["HP:0002250", "UMLS:C4025715"], "information_content": 67.4}
{"id": "MONDO:0008462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split lower lip", "equivalent_identifiers": ["MONDO:0008462", "OMIM:183400", "UMLS:C1866743", "medgen:356607"], "information_content": 100.0}
{"id": "HP:0000178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lower lip morphology", "equivalent_identifiers": ["HP:0000178", "UMLS:C4025883"], "information_content": 84.2}
{"id": "DOID:0080137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia type 4", "equivalent_identifiers": ["DOID:0080137", "OMIM:610755", "UMLS:C1970712", "MESH:C567059", "NCIT:C157449", "SNOMEDCT:715907003"], "information_content": 92.8}
{"id": "MONDO:0005369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carcinoid tumor", "equivalent_identifiers": ["MONDO:0005369", "EFO:0004243", "UMLS:C0007095", "MESH:D002276", "MEDDRA:10007271", "MEDDRA:10007275", "MEDDRA:10007276", "MEDDRA:10007283", "NCIT:C2915", "SNOMEDCT:189607006", "SNOMEDCT:443492008", "medgen:2838", "HP:0100570"], "information_content": 79.9}
{"id": "MONDO:0005815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0005815", "DOID:1799", "orphanet:506052", "EFO:0007331", "UMLS:C0022134", "UMLS:C0242363", "UMLS:C0496784", "UMLS:C5848398", "UMLS:C5848399", "MESH:D007516", "NCIT:C194093", "NCIT:C27031", "NCIT:C65184", "SNOMEDCT:126864006", "SNOMEDCT:128878003", "SNOMEDCT:1290080008", "SNOMEDCT:237596009", "SNOMEDCT:254611009", "SNOMEDCT:399528006", "SNOMEDCT:76345009", "medgen:1848937", "icd11.foundation:1421495979", "ICD10:D13.7", "HP:0030405"], "information_content": 72.4}
{"id": "MONDO:0010900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intrauterine growth retardation with increased mitomycin c sensitivity", "equivalent_identifiers": ["MONDO:0010900", "OMIM:600546", "UMLS:C2931307", "MESH:C536744", "medgen:419040"], "information_content": 100.0}
{"id": "MONDO:0032667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermodysplasia verruciformis, susceptibility to, 5", "equivalent_identifiers": ["MONDO:0032667", "DOID:0061095", "DOID:0061171", "OMIM:618309", "UMLS:C4749043", "medgen:1648489"], "information_content": 100.0}
{"id": "MONDO:0005723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cryptococcal meningitis", "equivalent_identifiers": ["MONDO:0005723", "DOID:0080159", "EFO:0007228", "UMLS:C0085436", "MESH:D016919", "MEDDRA:10011487", "MEDDRA:10011488", "MEDDRA:10027209", "MEDDRA:10027257", "NCIT:C174113", "SNOMEDCT:14232007", "medgen:88410", "HP:0032160"], "information_content": 100.0}
{"id": "MONDO:0013797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17q12 deletion syndrome", "equivalent_identifiers": ["MONDO:0013797", "DOID:0060404", "OMIM:614527", "orphanet:261265", "UMLS:C3281138", "UMLS:C4518822", "SNOMEDCT:733519008", "medgen:482768"], "information_content": 100.0}
{"id": "HP:0000177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal upper lip morphology", "equivalent_identifiers": ["HP:0000177", "UMLS:C4025884"], "information_content": 73.3}
{"id": "MONDO:0007273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paragangliomas 4", "equivalent_identifiers": ["MONDO:0007273", "OMIM:115310", "UMLS:C1861848", "medgen:349380"], "information_content": 100.0}
{"id": "MONDO:0014590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 18", "equivalent_identifiers": ["MONDO:0014590", "DOID:0110683", "OMIM:616330", "UMLS:C4225364", "medgen:906793"], "information_content": 100.0}
{"id": "MONDO:0033560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 35", "equivalent_identifiers": ["MONDO:0033560", "DOID:0112139", "OMIM:619003", "UMLS:C5436576", "medgen:1745427"], "information_content": 100.0}
{"id": "HP:0032528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 4-hydroxybutyric acid", "equivalent_identifiers": ["HP:0032528", "UMLS:C5139403"], "information_content": 100.0}
{"id": "MONDO:0011165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomerulopathy with fibronectin deposits 2", "equivalent_identifiers": ["MONDO:0011165", "OMIM:601894", "UMLS:C1866075", "NCIT:C187984", "SNOMEDCT:722759007", "medgen:356149"], "information_content": 100.0}
{"id": "HP:0030949", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular deposits", "equivalent_identifiers": ["HP:0030949", "UMLS:C4476870"], "information_content": 83.6}
{"id": "HP:6000428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular fibronectin deposits", "equivalent_identifiers": ["HP:6000428", "UMLS:C5937206"], "information_content": 100.0}
{"id": "HP:0030162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerulomegaly", "equivalent_identifiers": ["HP:0030162", "NCIT:C123040", "UMLS:C4022604"], "information_content": 95.4}
{"id": "MONDO:0032759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with short stature and variable skeletal anomalies", "equivalent_identifiers": ["MONDO:0032759", "OMIM:618453", "UMLS:C5193105", "medgen:1680968"], "information_content": 100.0}
{"id": "MONDO:0010427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Raymond type", "equivalent_identifiers": ["MONDO:0010427", "DOID:0060824", "OMIM:300799", "UMLS:C3275406", "medgen:477037"], "information_content": 100.0}
{"id": "MONDO:0054695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, centronuclear, 6, with fiber-type disproportion", "equivalent_identifiers": ["MONDO:0054695", "DOID:0111221", "OMIM:617760", "UMLS:C4540345", "medgen:1627492"], "information_content": 100.0}
{"id": "MONDO:0859274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies", "equivalent_identifiers": ["MONDO:0859274", "OMIM:619995", "UMLS:C5774196", "medgen:1823969"], "information_content": 100.0}
{"id": "MONDO:0012146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis 3", "equivalent_identifiers": ["MONDO:0012146", "DOID:0110923", "OMIM:608898", "UMLS:C1837174", "MESH:C537251", "NCIT:C203463", "medgen:332383"], "information_content": 92.8}
{"id": "MONDO:0010206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 8", "equivalent_identifiers": ["MONDO:0010206", "DOID:0110705", "OMIM:278150", "UMLS:C3279470", "MESH:C566950", "medgen:481100"], "information_content": 100.0}
{"id": "MONDO:0013290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 5, autosomal dominant", "equivalent_identifiers": ["MONDO:0013290", "DOID:0080588", "OMIM:613506", "UMLS:C3150753", "medgen:462103"], "information_content": 100.0}
{"id": "MONDO:0009279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triple-A syndrome", "equivalent_identifiers": ["MONDO:0009279", "DOID:0050602", "OMIM:231550", "orphanet:869", "UMLS:C0271742", "MESH:C536008", "MEDDRA:10073592", "MEDDRA:10073593", "NCIT:C35710", "SNOMEDCT:45414006", "medgen:82889"], "information_content": 100.0}
{"id": "HP:0008259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenocorticotropin receptor defect", "equivalent_identifiers": ["HP:0008259", "UMLS:C4021548"], "information_content": 100.0}
{"id": "MONDO:0009529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase E3 deficiency", "equivalent_identifiers": ["MONDO:0009529", "OMIM:246900", "orphanet:2394", "UMLS:C5574660", "SNOMEDCT:29914000", "medgen:1805500"], "information_content": 100.0}
{"id": "HP:0500191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF leucine concentration", "equivalent_identifiers": ["HP:0500191", "UMLS:C5139576"], "information_content": 100.0}
{"id": "HP:0500193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF isoleucine concentration", "equivalent_identifiers": ["HP:0500193", "UMLS:C5139578"], "information_content": 100.0}
{"id": "HP:0500187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF valine concentration", "equivalent_identifiers": ["HP:0500187", "UMLS:C5139572"], "information_content": 80.6}
{"id": "MONDO:0009897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult polyglucosan body disease", "equivalent_identifiers": ["MONDO:0009897", "OMIM:263570", "orphanet:206583", "UMLS:C1849722", "MESH:C564878", "MEDDRA:10077946", "SNOMEDCT:721099001", "medgen:342338"], "information_content": 100.0}
{"id": "MONDO:0014861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune disease, multisystem, infantile-onset, 2", "equivalent_identifiers": ["MONDO:0014861", "OMIM:617006", "EFO:0005140", "UMLS:C4310768", "MEDDRA:10003814", "medgen:934735"], "information_content": 100.0}
{"id": "HP:0031540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear IgG deposits along the epidermal basement membrane zone", "equivalent_identifiers": ["HP:0031540", "UMLS:C4531056"], "information_content": 100.0}
{"id": "MONDO:0008747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 3", "equivalent_identifiers": ["MONDO:0008747", "DOID:0070097", "OMIM:203290", "orphanet:79433", "UMLS:C0342683", "MESH:C537189", "MESH:C537731", "SNOMEDCT:63450009", "medgen:87450", "icd11.foundation:1565320806"], "information_content": 100.0}
{"id": "MONDO:0034121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NAD(P)HX dehydratase deficiency", "equivalent_identifiers": ["MONDO:0034121", "OMIM:618321", "orphanet:555402", "UMLS:C5193026", "SNOMEDCT:1251446004", "medgen:1681210"], "information_content": 100.0}
{"id": "MONDO:0007388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenitally short costocoracoid ligament", "equivalent_identifiers": ["MONDO:0007388", "OMIM:122580", "orphanet:2391", "UMLS:C1852523", "MESH:C536448", "SNOMEDCT:725101002", "medgen:342257"], "information_content": 100.0}
{"id": "HP:0001435", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the shoulder girdle musculature", "equivalent_identifiers": ["HP:0001435", "UMLS:C4021778"], "information_content": 69.7}
{"id": "MONDO:0007062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adactylia, unilateral", "equivalent_identifiers": ["MONDO:0007062", "OMIM:102650", "orphanet:973", "UMLS:C0220660", "MESH:C562417", "medgen:113098"], "information_content": 100.0}
{"id": "MONDO:0008520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-elbow wrist dysplasia syndrome", "equivalent_identifiers": ["MONDO:0008520", "OMIM:186550", "orphanet:1275", "UMLS:C1861313", "MESH:C566090", "SNOMEDCT:764437006", "medgen:396103"], "information_content": 100.0}
{"id": "HP:0006190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radially deviated wrists", "equivalent_identifiers": ["HP:0006190", "UMLS:C1861316"], "information_content": 100.0}
{"id": "MONDO:0014275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi renotubular syndrome 3", "equivalent_identifiers": ["MONDO:0014275", "DOID:0080759", "OMIM:615605", "UMLS:C3810100", "medgen:816430"], "information_content": 100.0}
{"id": "MONDO:0014068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 17", "equivalent_identifiers": ["MONDO:0014068", "DOID:0111023", "OMIM:615163", "UMLS:C3554610", "medgen:767524"], "information_content": 100.0}
{"id": "MONDO:0032756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long qt syndrome 8", "equivalent_identifiers": ["MONDO:0032756", "DOID:0110649", "OMIM:618447"], "information_content": 100.0}
{"id": "MONDO:0012092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 5", "equivalent_identifiers": ["MONDO:0012092", "DOID:0070145", "OMIM:608654", "orphanet:64752", "UMLS:C0002768", "UMLS:C0020075", "MESH:D000699", "NCIT:C156360", "SNOMEDCT:128206006", "SNOMEDCT:403605007", "medgen:6916", "icd11.foundation:1411011731"], "information_content": 100.0}
{"id": "MONDO:0859570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "braddock-carey syndrome 2", "equivalent_identifiers": ["MONDO:0859570", "OMIM:619981", "UMLS:C5774189", "medgen:1823962"], "information_content": 100.0}
{"id": "MONDO:0030730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tessadori-van Haaften neurodevelopmental syndrome 2", "equivalent_identifiers": ["MONDO:0030730", "OMIM:619759", "UMLS:C5676923", "medgen:1803228"], "information_content": 100.0}
{"id": "MONDO:0014657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 32", "equivalent_identifiers": ["MONDO:0014657", "DOID:0110603", "OMIM:616481", "UMLS:C4225311", "medgen:896106"], "information_content": 100.0}
{"id": "OMIM:620133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8", "equivalent_identifiers": ["OMIM:620133", "UMLS:C5774257"]}
{"id": "MONDO:0010577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 1", "equivalent_identifiers": ["MONDO:0010577", "DOID:0111739", "OMIM:304500", "UMLS:C1844677", "MESH:C564433", "medgen:336749"], "information_content": 100.0}
{"id": "MONDO:0013673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram-like syndrome", "equivalent_identifiers": ["MONDO:0013673", "DOID:0080584", "OMIM:614296", "orphanet:411590", "EFO:0009063", "UMLS:C3280358", "UMLS:C4518338", "MESH:C565631", "SNOMEDCT:734022008", "medgen:481988"], "information_content": 100.0}
{"id": "HP:0030644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blind-spot enlargement", "equivalent_identifiers": ["HP:0030644", "UMLS:C0152192", "UMLS:C4073109", "MEDDRA:10005168", "MEDDRA:10026832", "MEDDRA:10039733", "SNOMEDCT:33970004"], "information_content": 100.0}
{"id": "MONDO:0014075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 39 multiple types", "equivalent_identifiers": ["MONDO:0014075", "DOID:0110236", "OMIM:615188", "UMLS:C3808800", "medgen:815130"], "information_content": 100.0}
{"id": "MONDO:0958001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alfadhel syndrome", "equivalent_identifiers": ["MONDO:0958001", "OMIM:620655", "UMLS:C5882735", "medgen:1845825"], "information_content": 100.0}
{"id": "MONDO:0010222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked Opitz G/BBB syndrome", "equivalent_identifiers": ["MONDO:0010222", "OMIM:300000", "UMLS:C2936904", "MESH:C567932", "medgen:424842"], "information_content": 100.0}
{"id": "HP:0006783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior pharyngeal cleft", "equivalent_identifiers": ["HP:0006783", "UMLS:C1848389"], "information_content": 100.0}
{"id": "HP:0025407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectourethral fistula", "equivalent_identifiers": ["HP:0025407", "UMLS:C0268875", "MEDDRA:10066892", "SNOMEDCT:15165002"], "information_content": 100.0}
{"id": "MONDO:0008057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney complex, type 1", "equivalent_identifiers": ["MONDO:0008057", "OMIM:160980", "UMLS:C2607929", "medgen:388559"], "information_content": 100.0}
{"id": "HP:0006769", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myxoid subcutaneous tumors", "equivalent_identifiers": ["HP:0006769", "UMLS:C1834421"], "information_content": 100.0}
{"id": "HP:0005587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Profuse pigmented skin lesions", "equivalent_identifiers": ["HP:0005587", "UMLS:C1834424"], "information_content": 100.0}
{"id": "HP:0034941", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palatine myxoma", "equivalent_identifiers": ["HP:0034941", "UMLS:C5826787"], "information_content": 100.0}
{"id": "HP:0008225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyroid follicular hyperplasia", "equivalent_identifiers": ["HP:0008225", "UMLS:C1969546"], "information_content": 100.0}
{"id": "MONDO:0007662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 4", "equivalent_identifiers": ["MONDO:0007662", "DOID:0080609", "OMIM:137600", "UMLS:C1842031", "MESH:C535536", "medgen:330750"], "information_content": 100.0}
{"id": "MONDO:0957990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tan-Almurshedi syndrome", "equivalent_identifiers": ["MONDO:0957990", "OMIM:620641", "UMLS:C5882727", "medgen:1848300"], "information_content": 100.0}
{"id": "MONDO:0008769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 2", "equivalent_identifiers": ["MONDO:0008769", "DOID:0110726", "OMIM:204500", "orphanet:228349", "UMLS:C1876161", "MESH:C566857", "NCIT:C85864", "medgen:406281"], "information_content": 100.0}
{"id": "HP:6000571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue tripeptidyl peptidase 1 activity", "equivalent_identifiers": ["HP:6000571", "UMLS:C5937333"], "information_content": 100.0}
{"id": "MONDO:0009736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neu-Laxova syndrome 1", "equivalent_identifiers": ["MONDO:0009736", "DOID:0080076", "OMIM:256520", "orphanet:583607", "UMLS:C4551478", "medgen:1633287"], "information_content": 100.0}
{"id": "HP:0007525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yellow subcutaneous tissue covered by thin, scaly skin", "equivalent_identifiers": ["HP:0007525", "UMLS:C1850533"], "information_content": 100.0}
{"id": "MONDO:0011286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 13", "equivalent_identifiers": ["MONDO:0011286", "DOID:0110468", "OMIM:603098", "UMLS:C1864199", "MESH:C566410", "medgen:350361"], "information_content": 100.0}
{"id": "MONDO:0009578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurocutaneous melanocytosis", "equivalent_identifiers": ["MONDO:0009578", "OMIM:249400", "orphanet:2481", "UMLS:C0544862", "MESH:C537387", "NCIT:C175215", "SNOMEDCT:1141661004", "medgen:154259", "icd11.foundation:403221860"], "information_content": 100.0}
{"id": "HP:0005603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Numerous congenital melanocytic nevi", "equivalent_identifiers": ["HP:0005603", "UMLS:C3806415"], "information_content": 100.0}
{"id": "MONDO:0011393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoalphalipoproteinemia, primary, 1", "equivalent_identifiers": ["MONDO:0011393", "DOID:0080957", "OMIM:604091", "UMLS:C5231558", "medgen:1684828"], "information_content": 100.0}
{"id": "MONDO:0020796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silver-Russell syndrome 1", "equivalent_identifiers": ["MONDO:0020796", "OMIM:180860", "UMLS:C5393125", "medgen:1718472"], "information_content": 100.0}
{"id": "MONDO:0018907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniopharyngioma", "equivalent_identifiers": ["MONDO:0018907", "DOID:3840", "orphanet:54595", "EFO:1000209", "UMLS:C0010276", "MESH:D003397", "MEDDRA:10011318", "NCIT:C2964", "SNOMEDCT:189179009", "SNOMEDCT:40009002", "medgen:41339", "HP:0030062"], "information_content": 82.1}
{"id": "MONDO:0003001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seminoma", "equivalent_identifiers": ["MONDO:0003001", "DOID:4440", "UMLS:C0036631", "MESH:D018239", "MEDDRA:10039956", "NCIT:C9309", "SNOMEDCT:1162765005", "SNOMEDCT:255107005", "SNOMEDCT:36741007", "SNOMEDCT:443675005", "medgen:11371", "HP:0100617"], "information_content": 81.7}
{"id": "MONDO:0010792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal infantile mitochondrial myopathy", "equivalent_identifiers": ["MONDO:0010792", "OMIM:551000", "orphanet:254857", "UMLS:C1838876", "MESH:C564017", "SNOMEDCT:766251006", "medgen:374077", "icd11.foundation:642272262", "HP:0009069"], "information_content": 100.0}
{"id": "MONDO:0011868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 2", "equivalent_identifiers": ["MONDO:0011868", "DOID:0060560", "OMIM:607598", "orphanet:137776", "UMLS:C1843478", "MESH:C564369", "SNOMEDCT:715419004", "medgen:334413"], "information_content": 100.0}
{"id": "MONDO:0010508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 103", "equivalent_identifiers": ["MONDO:0010508", "DOID:0112020", "OMIM:300982", "UMLS:C4310818", "medgen:934785"], "information_content": 100.0}
{"id": "MONDO:0009155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEM syndrome", "equivalent_identifiers": ["MONDO:0009155", "DOID:0111649", "OMIM:225280", "orphanet:1897", "UMLS:C1857041", "MESH:C536190", "SNOMEDCT:720856002", "medgen:341679"], "information_content": 100.0}
{"id": "HP:0010707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-4 finger cutaneous syndactyly", "equivalent_identifiers": ["HP:0010707", "UMLS:C4023729"], "information_content": 95.4}
{"id": "MONDO:0958012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 9", "equivalent_identifiers": ["MONDO:0958012", "OMIM:620669", "UMLS:C5882740", "medgen:1845761"], "information_content": 100.0}
{"id": "HP:0041056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hot cross bun sign", "equivalent_identifiers": ["HP:0041056", "UMLS:C5421689"], "information_content": 100.0}
{"id": "MONDO:0009884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet prostacyclin receptor defect", "equivalent_identifiers": ["MONDO:0009884", "OMIM:262875", "UMLS:C1849774", "MESH:C564884", "medgen:337912"], "information_content": 100.0}
{"id": "MONDO:0010163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tyrosinosis", "equivalent_identifiers": ["MONDO:0010163", "OMIM:276800", "UMLS:C0268484", "MESH:C562659", "SNOMEDCT:57414003", "medgen:78683"], "information_content": 100.0}
{"id": "MONDO:0008721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medium chain acyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0008721", "DOID:0080153", "OMIM:201450", "orphanet:42", "UMLS:C0220710", "MESH:C536038", "MEDDRA:10072654", "NCIT:C84538", "SNOMEDCT:128596003", "medgen:65086", "icd11.foundation:627734797"], "information_content": 100.0}
{"id": "HP:0008309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medium chain dicarboxylic aciduria", "equivalent_identifiers": ["HP:0008309", "UMLS:C1860081"], "information_content": 100.0}
{"id": "HP:6000356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue medium-chain acyl-CoA dehydrogenase activity", "equivalent_identifiers": ["HP:6000356", "UMLS:C5937150"], "information_content": 100.0}
{"id": "HP:6000605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 7-hydroxyoctanoic acid level", "equivalent_identifiers": ["HP:6000605", "UMLS:C5937360"], "information_content": 100.0}
{"id": "MONDO:0010027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "free sialic acid storage disease, infantile form", "equivalent_identifiers": ["MONDO:0010027", "OMIM:269920", "orphanet:309324", "UMLS:C1096902", "UMLS:C2930923", "UMLS:C2931471", "MESH:C535525", "MESH:C537332", "SNOMEDCT:34566007", "medgen:203367"], "information_content": 100.0}
{"id": "MONDO:0032778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 3, myogenic type", "equivalent_identifiers": ["MONDO:0032778", "DOID:0080979", "OMIM:618484", "UMLS:C5193121", "medgen:1680655"], "information_content": 100.0}
{"id": "MONDO:0009848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dissecting cellulitis of the scalp", "equivalent_identifiers": ["MONDO:0009848", "OMIM:260910", "orphanet:345", "UMLS:C0263506", "MESH:C562486", "MEDDRA:10056955", "MEDDRA:10056961", "SNOMEDCT:201182003", "SNOMEDCT:77333008", "medgen:78097", "icd11.foundation:872245808"], "information_content": 100.0}
{"id": "HP:0003267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced orotidine 5-prime phosphate decarboxylase level", "equivalent_identifiers": ["HP:0003267", "UMLS:C4020845", "UMLS:C4025636"], "information_content": 100.0}
{"id": "HP:0004826", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Folate-unresponsive megaloblastic anemia", "equivalent_identifiers": ["HP:0004826", "UMLS:C4025287"], "information_content": 100.0}
{"id": "HP:0003526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orotic acid crystalluria", "equivalent_identifiers": ["HP:0003526", "UMLS:C3278626"], "information_content": 100.0}
{"id": "HP:0003339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyrimidine-responsive megaloblastic anemia", "equivalent_identifiers": ["HP:0003339", "UMLS:C4021731"], "information_content": 100.0}
{"id": "MONDO:0957588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0957588", "OMIM:620494", "UMLS:C5882686", "medgen:1847194"], "information_content": 100.0}
{"id": "HP:0009656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism of the thumb", "equivalent_identifiers": ["HP:0009656", "UMLS:C1834032"], "information_content": 100.0}
{"id": "MONDO:0008990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Novak syndrome", "equivalent_identifiers": ["MONDO:0008990", "OMIM:215800", "UMLS:C0858233", "UMLS:C1859083", "MESH:C537851", "MESH:C563163", "MEDDRA:10010638", "medgen:349091"], "information_content": 100.0}
{"id": "MONDO:0014982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 25, autosomal dominant", "equivalent_identifiers": ["MONDO:0014982", "OMIM:617238", "UMLS:C4310655", "medgen:934622"], "information_content": 100.0}
{"id": "MONDO:0012170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 36", "equivalent_identifiers": ["MONDO:0012170", "DOID:0110494", "OMIM:609006", "UMLS:C1837007", "UMLS:C3149566", "UMLS:C3496242", "MESH:C563815", "NCIT:C174436", "medgen:324662"], "information_content": 100.0}
{"id": "MONDO:0010664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Snyder type", "equivalent_identifiers": ["MONDO:0010664", "DOID:0060802", "OMIM:309583", "orphanet:3063", "UMLS:C0796160", "MESH:C536678", "SNOMEDCT:702416008", "medgen:162918"], "information_content": 100.0}
{"id": "MONDO:0030976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculomotor-abducens synkinesis", "equivalent_identifiers": ["MONDO:0030976", "OMIM:619215", "UMLS:C5543116", "medgen:1789067"], "information_content": 100.0}
{"id": "HP:0033851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oculomotor synkinesis", "equivalent_identifiers": ["HP:0033851", "UMLS:C5539846"], "information_content": 100.0}
{"id": "MONDO:0014502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency", "equivalent_identifiers": ["MONDO:0014502", "DOID:0111934", "OMIM:616126", "orphanet:319563", "UMLS:C4015293", "medgen:863730"], "information_content": 100.0}
{"id": "MONDO:0030457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 87 and autoimmunity", "equivalent_identifiers": ["MONDO:0030457", "DOID:0061057", "OMIM:619573", "UMLS:C5562070", "medgen:1794280"], "information_content": 100.0}
{"id": "HP:0011131", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perianal dermatitis", "equivalent_identifiers": ["HP:0011131", "UMLS:C0240705", "UMLS:C0554478", "MEDDRA:10088338", "SNOMEDCT:275448003"], "information_content": 100.0}
{"id": "HP:0034056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal calprotectin level", "equivalent_identifiers": ["HP:0034056", "UMLS:C5676656"], "information_content": 100.0}
{"id": "MONDO:0014717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset Lafora body disease", "equivalent_identifiers": ["MONDO:0014717", "DOID:0111445", "OMIM:616640", "orphanet:324290", "UMLS:C4225258", "UMLS:C4518574", "SNOMEDCT:733082001", "medgen:907932"], "information_content": 100.0}
{"id": "MONDO:0014822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "15q14 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0014822", "OMIM:616898", "orphanet:261190", "UMLS:C4305230", "SNOMEDCT:719575008", "medgen:930899"], "information_content": 100.0}
{"id": "MONDO:0007279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 7", "equivalent_identifiers": ["MONDO:0007279", "DOID:0110260", "OMIM:115660"], "information_content": 100.0}
{"id": "MONDO:0009949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate carboxylase deficiency disease", "equivalent_identifiers": ["MONDO:0009949", "DOID:3651", "OMIM:266150", "orphanet:3008", "EFO:1001142", "UMLS:C0034341", "UMLS:C2931141", "MESH:C536255", "MESH:D015324", "MEDDRA:10077944", "NCIT:C85040", "SNOMEDCT:87694001", "medgen:18801", "icd11.foundation:2047948460"], "information_content": 90.9}
{"id": "MONDO:0014139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 2", "equivalent_identifiers": ["MONDO:0014139", "OMIM:615349", "orphanet:536467", "UMLS:C3809210", "SNOMEDCT:1251499005", "medgen:815540"], "information_content": 100.0}
{"id": "MONDO:0008557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paris-Trousseau thrombocytopenia", "equivalent_identifiers": ["MONDO:0008557", "OMIM:188025", "orphanet:851", "UMLS:C1956093", "medgen:365037", "icd11.foundation:1441183910"], "information_content": 100.0}
{"id": "MONDO:0011417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 3", "equivalent_identifiers": ["MONDO:0011417", "DOID:0111030", "OMIM:604250", "orphanet:225123", "UMLS:C1858664", "MESH:C537248", "SNOMEDCT:719974003", "medgen:388114"], "information_content": 100.0}
{"id": "MONDO:0009069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type", "equivalent_identifiers": ["MONDO:0009069", "DOID:0111180", "OMIM:220111", "orphanet:70472", "UMLS:C1857355", "MESH:C537004", "SNOMEDCT:718219002", "medgen:387801"], "information_content": 100.0}
{"id": "HP:0006565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased hepatocellular lipid droplets", "equivalent_identifiers": ["HP:0006565", "UMLS:C4025021"], "information_content": 100.0}
{"id": "MONDO:0014724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 24", "equivalent_identifiers": ["MONDO:0014724", "DOID:0110993", "OMIM:616654", "UMLS:C4084841", "medgen:905319"], "information_content": 100.0}
{"id": "MONDO:0012519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion", "equivalent_identifiers": ["MONDO:0012519", "OMIM:610543", "orphanet:353281", "UMLS:C1864648", "medgen:350477"], "information_content": 100.0}
{"id": "MONDO:0030962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 23", "equivalent_identifiers": ["MONDO:0030962", "DOID:0112266", "OMIM:619201", "UMLS:C5543092", "medgen:1787011"], "information_content": 100.0}
{"id": "MONDO:0012875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 21", "equivalent_identifiers": ["MONDO:0012875", "DOID:0110906", "OMIM:612354", "UMLS:C2676507", "MESH:C567338", "medgen:436705"], "information_content": 100.0}
{"id": "MONDO:0011472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex due to plakophilin deficiency", "equivalent_identifiers": ["MONDO:0011472", "OMIM:604536", "orphanet:158668", "UMLS:C1858302", "MESH:C536183", "SNOMEDCT:716699004", "medgen:388032"], "information_content": 100.0}
{"id": "MONDO:0011761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 21", "equivalent_identifiers": ["MONDO:0011761", "DOID:0110551", "OMIM:607017", "UMLS:C1846922", "MESH:C564634", "medgen:339643"], "information_content": 100.0}
{"id": "MONDO:0011089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent ductus venosus", "equivalent_identifiers": ["MONDO:0011089", "OMIM:601466", "UMLS:C0344688", "MESH:C562830", "SNOMEDCT:253330006", "medgen:91033", "HP:0012022"], "information_content": 100.0}
{"id": "HP:0012021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent patent ductus venosus", "equivalent_identifiers": ["HP:0012021", "UMLS:C4023072"], "information_content": 100.0}
{"id": "MONDO:0030990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kohlschutter-Tonz syndrome-like", "equivalent_identifiers": ["MONDO:0030990", "OMIM:619229", "UMLS:C5543202", "medgen:1781649"], "information_content": 100.0}
{"id": "HP:0001197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of prenatal development or birth", "equivalent_identifiers": ["HP:0001197", "UMLS:C4025797"], "information_content": 61.2}
{"id": "HP:0011197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with focal spike waves", "equivalent_identifiers": ["HP:0011197", "UMLS:C4023477"], "information_content": 87.2}
{"id": "MONDO:0014172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 12", "equivalent_identifiers": ["MONDO:0014172", "DOID:0070171", "OMIM:615413", "UMLS:C3809427", "medgen:815757"], "information_content": 100.0}
{"id": "HP:0012863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal male germ cell morphology", "equivalent_identifiers": ["HP:0012863", "UMLS:C4022703"], "information_content": 68.2}
{"id": "MONDO:0013377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 7", "equivalent_identifiers": ["MONDO:0013377", "DOID:0060838", "OMIM:613704", "UMLS:C3150969", "medgen:462319"], "information_content": 100.0}
{"id": "MONDO:0011422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive proximal renal tubular acidosis", "equivalent_identifiers": ["MONDO:0011422", "OMIM:604278", "orphanet:93607", "UMLS:C1970309", "MESH:C567038", "medgen:370883"], "information_content": 100.0}
{"id": "HP:0005546", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased red cell osmotic resistance", "equivalent_identifiers": ["HP:0005546", "UMLS:C1858628"], "information_content": 100.0}
{"id": "HP:4000010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired renal tubular reabsorption of bicarbonate", "equivalent_identifiers": ["HP:4000010", "UMLS:C5539860"], "information_content": 100.0}
{"id": "MONDO:0030045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liberfarb syndrome", "equivalent_identifiers": ["MONDO:0030045", "OMIM:618889", "orphanet:589442", "UMLS:C5394404", "SNOMEDCT:1284851009", "medgen:1709796"], "information_content": 100.0}
{"id": "HP:0005945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngeal obstruction", "equivalent_identifiers": ["HP:0005945", "NCIT:C78413", "UMLS:C0264306", "MEDDRA:10059639", "SNOMEDCT:61169001"], "information_content": 100.0}
{"id": "MONDO:0033044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome 13", "equivalent_identifiers": ["MONDO:0033044", "DOID:0080253", "OMIM:617562", "UMLS:C4539714", "medgen:1627793"], "information_content": 100.0}
{"id": "MONDO:0032849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies", "equivalent_identifiers": ["MONDO:0032849", "DOID:0070539", "OMIM:618651", "EFO:0010662", "UMLS:C5231442", "medgen:1684884"], "information_content": 100.0}
{"id": "MONDO:0014726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2X", "equivalent_identifiers": ["MONDO:0014726", "DOID:0110176", "OMIM:616668", "orphanet:466775", "EFO:1001983", "UMLS:C5569024", "SNOMEDCT:1187563003", "medgen:1800447"], "information_content": 100.0}
{"id": "HP:0033246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Type II pneumocyte hypertrophy", "equivalent_identifiers": ["HP:0033246", "UMLS:C5539455"], "information_content": 100.0}
{"id": "MONDO:0012623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 4", "equivalent_identifiers": ["MONDO:0012623", "DOID:0081187", "OMIM:611107", "UMLS:C1970179", "MESH:C567008", "medgen:370844"], "information_content": 100.0}
{"id": "MONDO:0011906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 1", "equivalent_identifiers": ["MONDO:0011906", "DOID:0111071", "OMIM:607765", "orphanet:79301", "UMLS:C1843116", "MESH:C535442", "SNOMEDCT:238033007", "medgen:335883"], "information_content": 100.0}
{"id": "HP:6000825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced C27 3beta-HSD activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000825", "UMLS:C5937546"], "information_content": 100.0}
{"id": "OMIM:608456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mutyh-associated polyposis", "equivalent_identifiers": ["OMIM:608456", "EFO:0009296", "UMLS:C3272841", "MESH:C563924", "MEDDRA:10090739", "NCIT:C96520"], "information_content": 92.8}
{"id": "MONDO:0054615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 18", "equivalent_identifiers": ["MONDO:0054615", "DOID:0070165", "OMIM:617576", "UMLS:C4539783", "medgen:1617309"], "information_content": 100.0}
{"id": "MONDO:0013382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive demyelinating neuropathy with bilateral striatal necrosis", "equivalent_identifiers": ["MONDO:0013382", "OMIM:613710", "orphanet:217396", "UMLS:C3150973", "SNOMEDCT:771305006", "medgen:462323"], "information_content": 100.0}
{"id": "MONDO:0014146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hypocalcemia 2", "equivalent_identifiers": ["MONDO:0014146", "DOID:0090108", "OMIM:615361", "UMLS:C3809243", "medgen:815573"], "information_content": 100.0}
{"id": "MONDO:0009973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticular dysgenesis", "equivalent_identifiers": ["MONDO:0009973", "DOID:0060020", "OMIM:267500", "orphanet:33355", "UMLS:C0272167", "MESH:C538361", "NCIT:C27070", "SNOMEDCT:111584000", "medgen:124417"], "information_content": 95.4}
{"id": "HP:0005354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent cellular immunity", "equivalent_identifiers": ["HP:0005354", "UMLS:C1849426"], "information_content": 100.0}
{"id": "MONDO:0013116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0013116", "OMIM:613076", "orphanet:330054", "UMLS:C2751320", "MESH:C567769", "medgen:416525"], "information_content": 100.0}
{"id": "MONDO:0029130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly, postaxial, type A8", "equivalent_identifiers": ["MONDO:0029130", "OMIM:618123", "UMLS:C4748277", "medgen:1648405"], "information_content": 100.0}
{"id": "MONDO:0011091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2D", "equivalent_identifiers": ["MONDO:0011091", "DOID:0110164", "OMIM:601472", "orphanet:99938", "UMLS:C1832274", "MESH:C537993", "NCIT:C122659", "SNOMEDCT:717011006", "medgen:316946", "icd11.foundation:1617529678"], "information_content": 100.0}
{"id": "HP:0003435", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cold-induced hand cramps", "equivalent_identifiers": ["HP:0003435", "UMLS:C1832279"], "information_content": 100.0}
{"id": "MONDO:0011097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axenfeld-Rieger syndrome type 2", "equivalent_identifiers": ["MONDO:0011097", "DOID:0110121", "OMIM:601499", "UMLS:C1832229", "MESH:C535680", "medgen:316937"], "information_content": 100.0}
{"id": "HP:0007833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior chamber synechiae", "equivalent_identifiers": ["HP:0007833", "UMLS:C4024788"], "information_content": 92.8}
{"id": "MONDO:0957543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auriculocondylar syndrome 4", "equivalent_identifiers": ["MONDO:0957543", "OMIM:620457", "UMLS:C5830659", "medgen:1841295"], "information_content": 100.0}
{"id": "MONDO:0011605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized basaloid follicular hamartoma syndrome", "equivalent_identifiers": ["MONDO:0011605", "OMIM:605827", "orphanet:168632", "UMLS:C1853919", "UMLS:C4707879", "MESH:C565284", "SNOMEDCT:766928004", "medgen:343009"], "information_content": 100.0}
{"id": "MONDO:0010006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandhoff disease", "equivalent_identifiers": ["MONDO:0010006", "DOID:3323", "OMIM:268800", "orphanet:796", "UMLS:C0036161", "MESH:D012497", "MEDDRA:10081314", "NCIT:C85052", "SNOMEDCT:23849003", "medgen:11313", "icd11.foundation:708581915", "ICD10:E75.01"], "information_content": 90.9}
{"id": "HP:6000122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary N-acetylglucosamine-rich oligosaccharide level", "equivalent_identifiers": ["HP:6000122", "UMLS:C5936977"], "information_content": 100.0}
{"id": "HP:0033978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced beta-hexosaminidase B activity", "equivalent_identifiers": ["HP:0033978", "UMLS:C5558366"], "information_content": 100.0}
{"id": "MONDO:0009727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atelosteogenesis type II", "equivalent_identifiers": ["MONDO:0009727", "OMIM:256050", "orphanet:56304", "UMLS:C1850554", "MESH:C535395", "SNOMEDCT:254055004", "medgen:338072"], "information_content": 100.0}
{"id": "HP:0032930", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lacunar halos around chondrocytes", "equivalent_identifiers": ["HP:0032930", "UMLS:C5397935"], "information_content": 100.0}
{"id": "HP:0003864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid humerus", "equivalent_identifiers": ["HP:0003864", "UMLS:C4025545"], "information_content": 100.0}
{"id": "MONDO:0957229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hatipoglu immunodeficiency syndrome", "equivalent_identifiers": ["MONDO:0957229", "OMIM:620331", "UMLS:C5830439", "medgen:1841075"], "information_content": 100.0}
{"id": "MONDO:0014732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 12", "equivalent_identifiers": ["MONDO:0014732", "DOID:0060796", "OMIM:616683", "orphanet:466934", "UMLS:C4225247", "medgen:905068"], "information_content": 100.0}
{"id": "MONDO:0030034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, progressive myoclonic, 11", "equivalent_identifiers": ["MONDO:0030034", "OMIM:618876", "UMLS:C5394362", "medgen:1716712"], "information_content": 100.0}
{"id": "MONDO:0014738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 69", "equivalent_identifiers": ["MONDO:0014738", "DOID:0110590", "OMIM:616697", "UMLS:C4225241", "medgen:905882"], "information_content": 100.0}
{"id": "MONDO:0030025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia, microcephaly, and seizures", "equivalent_identifiers": ["MONDO:0030025", "OMIM:618862", "UMLS:C5394312", "medgen:1710110"], "information_content": 100.0}
{"id": "MONDO:0013563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "equivalent_identifiers": ["MONDO:0013563", "DOID:0080138", "OMIM:614080", "orphanet:280633", "UMLS:C3279775", "NCIT:C176896", "medgen:481405"], "information_content": 100.0}
{"id": "HP:0002867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ilium morphology", "equivalent_identifiers": ["HP:0002867", "UMLS:C4021746"], "information_content": 74.6}
{"id": "MONDO:0013125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CLAPO syndrome", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0013125", "OMIM:613089", "orphanet:168984", "UMLS:C2751313", "MESH:C567763", "SNOMEDCT:717765001", "medgen:416522", "icd11.foundation:415642712"], "information_content": 100.0}
{"id": "HP:0031487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Capillary malformation of the lip", "equivalent_identifiers": ["HP:0031487", "UMLS:C4531089"], "information_content": 100.0}
{"id": "MONDO:0000910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 6", "equivalent_identifiers": ["MONDO:0000910", "DOID:0110413", "OMIM:312612", "UMLS:C1839368", "MESH:C564065", "medgen:333305"], "information_content": 100.0}
{"id": "MONDO:0008920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine deficiency, myopathic", "equivalent_identifiers": ["MONDO:0008920", "OMIM:212160", "UMLS:C1859318", "MESH:C536100", "medgen:347852"], "information_content": 100.0}
{"id": "MONDO:0958178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1", "equivalent_identifiers": ["MONDO:0958178", "OMIM:301108", "UMLS:C5829571", "medgen:1840207"], "information_content": 100.0}
{"id": "HP:0012685", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased pineal volume", "equivalent_identifiers": ["HP:0012685", "UMLS:C4022780"], "information_content": 100.0}
{"id": "MONDO:0957497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disabling pansclerotic morphea of childhood", "equivalent_identifiers": ["MONDO:0957497", "DOID:0081373", "OMIM:620443", "UMLS:C3898649", "NCIT:C116787", "medgen:858243"], "information_content": 100.0}
{"id": "HP:0012344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Morphea", "equivalent_identifiers": ["HP:0012344", "UMLS:C1527383", "MEDDRA:10027979", "MEDDRA:10027982", "SNOMEDCT:201049004"], "information_content": 100.0}
{"id": "MONDO:0008651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral hypoplasia with lumbar kyphosis", "equivalent_identifiers": ["MONDO:0008651", "OMIM:192900", "UMLS:C1860463", "MESH:C566002", "medgen:348622"], "information_content": 100.0}
{"id": "MONDO:0013966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia 4", "equivalent_identifiers": ["MONDO:0013966", "DOID:0060678", "OMIM:614916", "UMLS:C3554047", "medgen:766961"], "information_content": 100.0}
{"id": "OMIM:301120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PROSTATE CANCER, HEREDITARY, X-LINKED 3", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["OMIM:301120", "UMLS:C5935569"]}
{"id": "MONDO:0007514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopia lentis 1, isolated, autosomal dominant", "equivalent_identifiers": ["MONDO:0007514", "DOID:0111150", "OMIM:129600", "UMLS:C3541518", "medgen:762106"], "information_content": 100.0}
{"id": "MONDO:0009491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Haim-Munk syndrome", "equivalent_identifiers": ["MONDO:0009491", "OMIM:245010", "orphanet:2342", "UMLS:C1855627", "MESH:C537627", "SNOMEDCT:719973009", "medgen:344539"], "information_content": 100.0}
{"id": "HP:0006224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapering pointed ends of distal finger phalanges", "equivalent_identifiers": ["HP:0006224", "UMLS:C4025078"], "information_content": 100.0}
{"id": "MONDO:0014807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy with congenital bone fractures 2", "equivalent_identifiers": ["MONDO:0014807", "OMIM:616867", "UMLS:C4225176", "medgen:907910"], "information_content": 100.0}
{"id": "MONDO:0010361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 30", "equivalent_identifiers": ["MONDO:0010361", "DOID:0112051", "OMIM:300558", "UMLS:C0796237", "MESH:C563146", "medgen:163235"], "information_content": 100.0}
{"id": "MONDO:0018570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatasia", "equivalent_identifiers": ["MONDO:0018570", "DOID:14213", "OMIM:241510", "orphanet:436", "UMLS:C0020630", "UMLS:C0220743", "MESH:C562440", "MESH:D007014", "MEDDRA:10049933", "NCIT:C26798", "SNOMEDCT:190859005", "SNOMEDCT:30174008", "SNOMEDCT:360792001", "medgen:43799", "icd11.foundation:422012968", "ICD10:E83.39"], "information_content": 86.3}
{"id": "HP:0001024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin dimple over apex of long bone angulation", "equivalent_identifiers": ["HP:0001024", "UMLS:C1855815"], "information_content": 100.0}
{"id": "HP:6000873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowdler spurs", "equivalent_identifiers": ["HP:6000873", "UMLS:C5937585"], "information_content": 100.0}
{"id": "HP:0003491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine pyrophosphate", "equivalent_identifiers": ["HP:0003491", "UMLS:C4025607"], "information_content": 100.0}
{"id": "HP:0011864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated plasma pyrophosphate", "equivalent_identifiers": ["HP:0011864", "UMLS:C4023157"], "information_content": 100.0}
{"id": "OMIM:616873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 13", "equivalent_identifiers": ["OMIM:616873", "UMLS:C4225173"]}
{"id": "MONDO:0957220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte/zygote/embryo maturation arrest 17", "equivalent_identifiers": ["MONDO:0957220", "OMIM:620319", "UMLS:C5830418", "medgen:1841054"], "information_content": 100.0}
{"id": "MONDO:0859203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic dysplasia, Ain-Naz type", "equivalent_identifiers": ["MONDO:0859203", "OMIM:619598", "UMLS:C5562013", "medgen:1794223"], "information_content": 100.0}
{"id": "HP:0003951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal humeral metaphyseal irregularity", "equivalent_identifiers": ["HP:0003951", "UMLS:C4021703"], "information_content": 100.0}
{"id": "HP:0100862", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the femoral head", "equivalent_identifiers": ["HP:0100862", "UMLS:C4021950", "SNOMEDCT:1145396000"], "information_content": 100.0}
{"id": "HP:0005043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal humeral metaphyseal irregularity", "equivalent_identifiers": ["HP:0005043", "UMLS:C1865128"], "information_content": 100.0}
{"id": "MONDO:0010969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 5", "equivalent_identifiers": ["MONDO:0010969", "DOID:0111010", "OMIM:600977", "UMLS:C1832976", "MESH:C563415", "medgen:322083"], "information_content": 100.0}
{"id": "MONDO:0975828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked 114", "equivalent_identifiers": ["MONDO:0975828", "OMIM:301134", "UMLS:C5974891"], "information_content": 100.0}
{"id": "MONDO:0009762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus, congenital, autosomal recessive", "equivalent_identifiers": ["MONDO:0009762", "DOID:0111797", "OMIM:257400", "UMLS:C3151571", "UMLS:C3502444", "MESH:C564938", "medgen:462921"], "information_content": 100.0}
{"id": "MONDO:0008434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smith-Magenis syndrome", "equivalent_identifiers": ["MONDO:0008434", "DOID:0060768", "OMIM:182290", "orphanet:819", "UMLS:C0795864", "UMLS:C1866927", "MESH:D058496", "MEDDRA:10081680", "NCIT:C75469", "SNOMEDCT:401315004", "medgen:162881", "icd11.foundation:989025532"], "information_content": 100.0}
{"id": "HP:0005607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tracheobronchial morphology", "equivalent_identifiers": ["HP:0005607", "UMLS:C4021631"], "information_content": 68.8}
{"id": "HP:0002973", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal forearm morphology", "equivalent_identifiers": ["HP:0002973", "UMLS:C4025666"], "information_content": 65.5}
{"id": "HP:0032521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Self hugging", "equivalent_identifiers": ["HP:0032521", "UMLS:C5139398"], "information_content": 100.0}
{"id": "HP:0032508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyembolokoilamania", "equivalent_identifiers": ["HP:0032508", "UMLS:C5139392"], "information_content": 100.0}
{"id": "HP:0032509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychotillomania", "equivalent_identifiers": ["HP:0032509", "UMLS:C0233623", "MEDDRA:10069371", "SNOMEDCT:60259009"], "information_content": 100.0}
{"id": "MONDO:0030535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive", "equivalent_identifiers": ["MONDO:0030535", "OMIM:619599", "UMLS:C5562014", "medgen:1794224"], "information_content": 100.0}
{"id": "HP:0004057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitten deformity", "equivalent_identifiers": ["HP:0004057", "UMLS:C1969236", "MEDDRA:10078210"], "information_content": 100.0}
{"id": "MONDO:0012376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 55", "equivalent_identifiers": ["MONDO:0012376", "DOID:0110510", "OMIM:609952", "UMLS:C1864962", "MESH:C538203", "medgen:355338"], "information_content": 100.0}
{"id": "MONDO:0032870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with short stature and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0032870", "DOID:0111674", "OMIM:618687", "EFO:0010652", "UMLS:C5231462", "medgen:1684812"], "information_content": 100.0}
{"id": "MONDO:0007118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated anhidrosis with normal sweat glands", "equivalent_identifiers": ["MONDO:0007118", "DOID:0060603", "OMIM:106190", "orphanet:468666", "UMLS:C5568836", "SNOMEDCT:1187178004", "medgen:1800259"], "information_content": 100.0}
{"id": "HP:0007459", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized anhidrosis", "equivalent_identifiers": ["HP:0007459", "UMLS:C4024869"], "information_content": 100.0}
{"id": "MONDO:0008689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema", "equivalent_identifiers": ["MONDO:0008689", "DOID:0111576", "OMIM:194380", "UMLS:C4551512", "medgen:1638271"], "information_content": 100.0}
{"id": "HP:0005535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exercise-induced hemolysis", "equivalent_identifiers": ["HP:0005535", "UMLS:C4025182"], "information_content": 100.0}
{"id": "HP:0008269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased red cell hemolysis by shear stress", "equivalent_identifiers": ["HP:0008269", "UMLS:C3806125"], "information_content": 100.0}
{"id": "MONDO:0010962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse nonepidermolytic palmoplantar keratoderma", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0010962", "DOID:0050428", "DOID:0070550", "OMIM:600962", "orphanet:530838", "UMLS:C1833030", "UMLS:C4274840", "UMLS:C5680142", "MESH:C563422", "SNOMEDCT:1222645005", "SNOMEDCT:716105001", "medgen:371463", "HP:0007404"], "information_content": 100.0}
{"id": "MONDO:0008301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Guttmacher syndrome", "equivalent_identifiers": ["MONDO:0008301", "DOID:0111544", "OMIM:176305", "orphanet:2957", "UMLS:C1867801", "MESH:C538278", "SNOMEDCT:722452004", "medgen:401304"], "information_content": 100.0}
{"id": "MONDO:0008084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, congenital, with arthrogryposis multiplex", "equivalent_identifiers": ["MONDO:0008084", "OMIM:162370", "UMLS:C1834206", "MESH:C535714", "medgen:320286"], "information_content": 100.0}
{"id": "HP:0006903", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital peripheral neuropathy", "equivalent_identifiers": ["HP:0006903", "UMLS:C4024967"], "information_content": 100.0}
{"id": "MONDO:0008607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triphalangeal thumbs-brachyectrodactyly syndrome", "equivalent_identifiers": ["MONDO:0008607", "OMIM:190680", "orphanet:2947", "UMLS:C1860804", "MESH:C536564", "SNOMEDCT:719951002", "medgen:348710"], "information_content": 100.0}
{"id": "MONDO:0007257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "candidiasis, familial, 1", "equivalent_identifiers": ["MONDO:0007257", "OMIM:114580", "UMLS:C2751429", "MESH:C567779", "medgen:414015"], "information_content": 100.0}
{"id": "MONDO:0017919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "OEIS Complex", "equivalent_identifiers": ["MONDO:0017919", "DOID:0080173", "OMIM:258040", "orphanet:322", "UMLS:C1850321", "MESH:D000099061", "NCIT:C99142", "medgen:338020"], "information_content": 89.4}
{"id": "HP:0008490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacral segmentation defect", "equivalent_identifiers": ["HP:0008490", "UMLS:C1850329"], "information_content": 90.9}
{"id": "HP:0005223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplicated colon", "equivalent_identifiers": ["HP:0005223", "UMLS:C1850328"], "information_content": 100.0}
{"id": "MONDO:0009774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cloacal exstrophy", "equivalent_identifiers": ["MONDO:0009774", "DOID:0080175", "orphanet:93929", "UMLS:C0345217", "MESH:C537748", "MESH:D000099005", "MEDDRA:10067424", "SNOMEDCT:20815007", "medgen:83377", "icd11.foundation:2004612103", "HP:0010475"], "information_content": 100.0}
{"id": "MONDO:0008974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HEM dysplasia", "equivalent_identifiers": ["MONDO:0008974", "DOID:0111588", "OMIM:215140", "orphanet:1426", "UMLS:C2931048", "MESH:C535858", "SNOMEDCT:389261002", "medgen:418969", "icd11.foundation:1858458540"], "information_content": 100.0}
{"id": "HP:0008890", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe short-limb dwarfism", "equivalent_identifiers": ["HP:0008890", "UMLS:C1860105"], "information_content": 100.0}
{"id": "HP:0006619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior rib punctate calcifications", "equivalent_identifiers": ["HP:0006619", "UMLS:C1859120"], "information_content": 100.0}
{"id": "HP:0004599", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent or minimally ossified vertebral bodies", "equivalent_identifiers": ["HP:0004599", "UMLS:C1832983"], "information_content": 86.3}
{"id": "HP:0006637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sternal punctate calcifications", "equivalent_identifiers": ["HP:0006637", "UMLS:C1859121"], "information_content": 100.0}
{"id": "HP:0010659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy variation in bone mineral density", "equivalent_identifiers": ["HP:0010659", "UMLS:C4021245"], "information_content": 100.0}
{"id": "MONDO:0012375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 47", "equivalent_identifiers": ["MONDO:0012375", "DOID:0110504", "OMIM:609946", "UMLS:C1864964", "MESH:C566498", "medgen:355339"], "information_content": 100.0}
{"id": "MONDO:0010362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease IXd", "equivalent_identifiers": ["MONDO:0010362", "DOID:0111040", "OMIM:300559", "orphanet:715", "UMLS:C1845151", "MESH:C564485", "SNOMEDCT:819953000", "medgen:335112"], "information_content": 100.0}
{"id": "HP:6000198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle phosphorylase kinase activity", "equivalent_identifiers": ["HP:6000198", "UMLS:C5937030"], "information_content": 100.0}
{"id": "HP:0030231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glycogen accumulation in muscle fiber lysosomes", "equivalent_identifiers": ["HP:0030231", "UMLS:C4022567"], "information_content": 100.0}
{"id": "MONDO:0014806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy with congenital bone fractures 1", "equivalent_identifiers": ["MONDO:0014806", "OMIM:616866", "UMLS:C1849101", "UMLS:C4225177", "MESH:C564805", "medgen:896011"], "information_content": 100.0}
{"id": "MONDO:0011428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3", "equivalent_identifiers": ["MONDO:0011428", "DOID:0060783", "OMIM:604292", "UMLS:C1858562", "MESH:C565799", "medgen:347666"], "information_content": 100.0}
{"id": "MONDO:0030026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal dystrophy with leukodystrophy", "equivalent_identifiers": ["MONDO:0030026", "DOID:0080946", "OMIM:618863", "EFO:0010738", "UMLS:C5394315", "medgen:1715138"], "information_content": 100.0}
{"id": "MONDO:0957530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast-ovarian cancer, familial, susceptibility to, 5", "equivalent_identifiers": ["MONDO:0957530", "OMIM:620442", "UMLS:C5830615", "medgen:1841251"], "information_content": 100.0}
{"id": "MONDO:0008175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pacman dysplasia", "equivalent_identifiers": ["MONDO:0008175", "OMIM:167220", "orphanet:1952", "UMLS:C1833676", "MESH:C538095", "SNOMEDCT:722127006", "medgen:331566", "icd11.foundation:519938437"], "information_content": 100.0}
{"id": "MONDO:0000912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 5", "equivalent_identifiers": ["MONDO:0000912", "DOID:0110507", "OMIM:600792", "UMLS:C1833319", "MESH:C563444", "medgen:331485"], "information_content": 100.0}
{"id": "MONDO:0957494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory disease, multisystem, with immune dysregulation, X-linked", "equivalent_identifiers": ["MONDO:0957494", "OMIM:301109", "UMLS:C5829577", "medgen:1840213"], "information_content": 92.8}
{"id": "HP:4000031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-type VII collagen antibody", "equivalent_identifiers": ["HP:4000031", "UMLS:C5539880"], "information_content": 100.0}
{"id": "HP:4000025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-integrin antibody positivity", "equivalent_identifiers": ["HP:4000025", "UMLS:C5539874"], "information_content": 100.0}
{"id": "MONDO:0010661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe X-linked intellectual disability, Gustavson type", "equivalent_identifiers": ["MONDO:0010661", "DOID:0081123", "OMIM:309555", "orphanet:3078", "UMLS:C0795965", "UMLS:C4302744", "MESH:C536759", "SNOMEDCT:722213009", "medgen:167088"], "information_content": 100.0}
{"id": "HP:0005193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restricted large joint movement", "equivalent_identifiers": ["HP:0005193", "UMLS:C4025241"], "information_content": 100.0}
{"id": "MONDO:0010546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central incisors, absence of", "equivalent_identifiers": ["MONDO:0010546", "OMIM:302400", "UMLS:C1844886", "medgen:337110"], "information_content": 100.0}
{"id": "MONDO:0009803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital osteogenesis imperfecta-microcephaly-cataracts syndrome", "equivalent_identifiers": ["MONDO:0009803", "OMIM:259410", "orphanet:2772", "UMLS:C1850184", "MESH:C537558", "medgen:337988"], "information_content": 100.0}
{"id": "MONDO:0008787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcytic anemia with liver iron overload", "equivalent_identifiers": ["MONDO:0008787", "OMIM:206100", "orphanet:83642", "UMLS:C3806153", "SNOMEDCT:711161006", "medgen:812483"], "information_content": 100.0}
{"id": "MONDO:0957542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 22, adult-onset", "equivalent_identifiers": ["MONDO:0957542", "DOID:0060967", "OMIM:620456", "UMLS:C5830658", "medgen:1841294"], "information_content": 100.0}
{"id": "MONDO:0009684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular hypertonia, lethal", "equivalent_identifiers": ["MONDO:0009684", "OMIM:254120", "UMLS:C1850827", "MESH:C564982", "medgen:342600"], "information_content": 100.0}
{"id": "MONDO:0010657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic acidemia with homocystinuria, type cblX", "equivalent_identifiers": ["MONDO:0010657", "DOID:0111814", "OMIM:309541", "orphanet:369962", "UMLS:C0796208", "MESH:C563136", "medgen:167111"], "information_content": 100.0}
{"id": "MONDO:0030035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome", "equivalent_identifiers": ["MONDO:0030035", "OMIM:618877", "UMLS:C5394367", "medgen:1719567"], "information_content": 100.0}
{"id": "MONDO:0008737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Afibrinogenemia", "equivalent_identifiers": ["MONDO:0008737", "DOID:2236", "OMIM:202400", "orphanet:98880", "UMLS:C0001733", "UMLS:C2584774", "MESH:D000347", "MEDDRA:10001453", "MEDDRA:10052651", "MEDDRA:10066356", "MEDDRA:10066357", "NCIT:C98130", "SNOMEDCT:154818001", "SNOMEDCT:278504009", "SNOMEDCT:439145006", "medgen:749036", "HP:0034287"], "information_content": 92.8}
{"id": "HP:0012223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splenic rupture", "equivalent_identifiers": ["HP:0012223", "NCIT:C35032", "UMLS:C0038000", "MEDDRA:10039310", "MEDDRA:10039325", "MEDDRA:10041638", "MEDDRA:10041658", "SNOMEDCT:234506007", "MESH:D013161"], "information_content": 95.4}
{"id": "MONDO:0014731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures-scoliosis-macrocephaly syndrome", "equivalent_identifiers": ["MONDO:0014731", "OMIM:616682", "orphanet:466926", "UMLS:C4225248", "SNOMEDCT:1187250005", "medgen:909039"], "information_content": 100.0}
{"id": "MONDO:0957228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities", "equivalent_identifiers": ["MONDO:0957228", "DOID:0061044", "OMIM:620330", "UMLS:C5830437", "medgen:1841073"], "information_content": 100.0}
{"id": "HP:4000070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fixated interests", "equivalent_identifiers": ["HP:4000070", "UMLS:C5676852"], "information_content": 92.8}
{"id": "MONDO:0011423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2E", "equivalent_identifiers": ["MONDO:0011423", "DOID:0110279", "OMIM:604286", "orphanet:119", "UMLS:C1858593", "MESH:C535902", "NCIT:C180849", "SNOMEDCT:718850008", "medgen:347674"], "information_content": 100.0}
{"id": "MONDO:0014145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 17", "equivalent_identifiers": ["MONDO:0014145", "DOID:0110217", "OMIM:615360", "UMLS:C3715164", "medgen:811616"], "information_content": 100.0}
{"id": "HP:0032284", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ultra-low vision with retained motion projection", "equivalent_identifiers": ["HP:0032284", "UMLS:C5139241"], "information_content": 100.0}
{"id": "MONDO:0009415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoglycemia, leucine-induced", "equivalent_identifiers": ["MONDO:0009415", "DOID:0112262", "OMIM:240800", "EFO:0006856", "UMLS:C0271714", "MESH:C537150", "SNOMEDCT:62151007", "medgen:82888"], "information_content": 100.0}
{"id": "MONDO:0009379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rotor syndrome", "equivalent_identifiers": ["MONDO:0009379", "OMIM:237450", "orphanet:3111", "UMLS:C0220991", "MEDDRA:10039234", "SNOMEDCT:32891000", "medgen:67435", "icd11.foundation:1965776012"], "information_content": 100.0}
{"id": "MONDO:0013383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0013383", "OMIM:613711", "UMLS:C2931739", "UMLS:C3150974", "MESH:C538121", "medgen:462324"], "information_content": 100.0}
{"id": "HP:0011286", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Total colonic aganglionosis", "equivalent_identifiers": ["HP:0011286", "NCIT:C101040", "UMLS:C0085758", "SNOMEDCT:253780003", "SNOMEDCT:360441005"], "information_content": 100.0}
{"id": "MONDO:0032846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, type 20", "equivalent_identifiers": ["MONDO:0032846", "DOID:0111849", "OMIM:618644", "UMLS:C5231439", "medgen:1684751"], "information_content": 100.0}
{"id": "MONDO:0033204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 37", "equivalent_identifiers": ["MONDO:0033204", "DOID:0080266", "OMIM:617577", "UMLS:C4539798", "medgen:1615746"], "information_content": 100.0}
{"id": "MONDO:0014727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 45", "equivalent_identifiers": ["MONDO:0014727", "DOID:0111994", "OMIM:616669", "UMLS:C4225252", "medgen:901044"], "information_content": 100.0}
{"id": "MONDO:0013117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5", "equivalent_identifiers": ["MONDO:0013117", "DOID:0111518", "OMIM:613077", "UMLS:C2751319", "MESH:C567768", "medgen:413981"], "information_content": 100.0}
{"id": "MONDO:0010588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 2, X-linked", "equivalent_identifiers": ["MONDO:0010588", "DOID:0111413", "OMIM:305390", "UMLS:C1844579", "MESH:C564428", "medgen:337030"], "information_content": 100.0}
{"id": "HP:0007989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intraretinal exudate", "equivalent_identifiers": ["HP:0007989", "UMLS:C4024758"], "information_content": 100.0}
{"id": "HP:0011532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subretinal exudate", "equivalent_identifiers": ["HP:0011532", "UMLS:C0423431", "SNOMEDCT:247156002"], "information_content": 100.0}
{"id": "HP:0007710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral vitreous opacities", "equivalent_identifiers": ["HP:0007710", "UMLS:C4024811"], "information_content": 100.0}
{"id": "MONDO:0014171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 4", "equivalent_identifiers": ["MONDO:0014171", "DOID:0090138", "OMIM:615412", "UMLS:C3809420", "medgen:815750"], "information_content": 100.0}
{"id": "MONDO:0030988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with dysmorphic facies and dental anomalies", "equivalent_identifiers": ["MONDO:0030988", "OMIM:619228", "UMLS:C5543197", "medgen:1785587"], "information_content": 100.0}
{"id": "MONDO:0011760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scheie syndrome", "equivalent_identifiers": ["MONDO:0011760", "DOID:0060222", "OMIM:607016", "orphanet:93474", "UMLS:C0026708", "MEDDRA:10056888", "MEDDRA:10056891", "MEDDRA:10056919", "NCIT:C61265", "SNOMEDCT:73123008", "medgen:6453", "ICD10:E76.0"], "information_content": 100.0}
{"id": "MONDO:0014967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 8, autosomal", "equivalent_identifiers": ["MONDO:0014967", "DOID:0051022", "OMIM:617205", "UMLS:C4310668", "medgen:934635"], "information_content": 100.0}
{"id": "HP:0011539", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrial situs ambiguous", "equivalent_identifiers": ["HP:0011539", "UMLS:C3164429", "SNOMEDCT:448681000"], "information_content": 100.0}
{"id": "MONDO:0033045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome 16", "equivalent_identifiers": ["MONDO:0033045", "DOID:0080254", "OMIM:617563", "UMLS:C4539729", "medgen:1620071"], "information_content": 100.0}
{"id": "MONDO:0012037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 3", "equivalent_identifiers": ["MONDO:0012037", "DOID:0081179", "OMIM:608443", "UMLS:C1838023", "MESH:C563929", "medgen:373870"], "information_content": 100.0}
{"id": "MONDO:0014153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 18", "equivalent_identifiers": ["MONDO:0014153", "DOID:0111024", "OMIM:615374", "UMLS:C3809299", "medgen:815629"], "information_content": 100.0}
{"id": "MONDO:0007420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant deafness - onychodystrophy syndrome", "equivalent_identifiers": ["MONDO:0007420", "DOID:0080720", "OMIM:124480", "orphanet:79499", "UMLS:C2675730", "MESH:C567274", "NCIT:C175240", "SNOMEDCT:1208614008", "medgen:382676"], "information_content": 100.0}
{"id": "MONDO:0013378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 10", "equivalent_identifiers": ["MONDO:0013378", "DOID:0080403", "OMIM:613705", "UMLS:C1866070", "MESH:C566605", "medgen:355621"], "information_content": 100.0}
{"id": "MONDO:0011330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 10", "equivalent_identifiers": ["MONDO:0011330", "DOID:0050960", "OMIM:603516", "orphanet:98761", "UMLS:C1963674", "MESH:C566874", "SNOMEDCT:715754007", "medgen:369786", "icd11.foundation:157300879"], "information_content": 100.0}
{"id": "MONDO:0007043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pfeiffer syndrome", "equivalent_identifiers": ["MONDO:0007043", "DOID:14705", "OMIM:101600", "orphanet:710", "UMLS:C0220658", "MEDDRA:10082289", "NCIT:C99100", "SNOMEDCT:70410008", "medgen:67390", "icd11.foundation:1075159878"], "information_content": 90.9}
{"id": "HP:0005347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tracheal cartilaginous sleeve", "equivalent_identifiers": ["HP:0005347", "UMLS:C1863363", "UMLS:C5676597"], "information_content": 100.0}
{"id": "HP:6000648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-4 toe cutaneous syndactyly", "equivalent_identifiers": ["HP:6000648", "UMLS:C5937396"], "information_content": 100.0}
{"id": "MONDO:0030456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, limb-girdle, autosomal recessive 27", "equivalent_identifiers": ["MONDO:0030456", "DOID:0061133", "OMIM:619566", "UMLS:C5562002", "medgen:1794212"], "information_content": 100.0}
{"id": "MONDO:0012903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 45", "equivalent_identifiers": ["MONDO:0012903", "DOID:0110502", "OMIM:612433", "UMLS:C3888030", "medgen:854732"], "information_content": 100.0}
{"id": "MONDO:0700250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex IV deficiency, nuclear type 1", "equivalent_identifiers": ["MONDO:0700250", "DOID:0070491", "OMIM:220110", "UMLS:C5435656", "NCIT:C176895", "medgen:1750917"], "information_content": 100.0}
{"id": "MONDO:0013542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moyamoya disease 5", "equivalent_identifiers": ["MONDO:0013542", "OMIM:614042", "UMLS:C3279690", "medgen:481320"], "information_content": 100.0}
{"id": "MONDO:0007102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic dystonic paraplegia", "equivalent_identifiers": ["MONDO:0007102", "OMIM:105300", "UMLS:C1862956", "MESH:C566292", "medgen:354871"], "information_content": 100.0}
{"id": "MONDO:0011473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 5", "equivalent_identifiers": ["MONDO:0011473", "DOID:0110215", "OMIM:604537", "UMLS:C1858301", "MESH:C536602", "medgen:388031"], "information_content": 100.0}
{"id": "MONDO:0008399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcoidosis, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0008399", "OMIM:181000", "UMLS:C2697310", "medgen:394568"], "information_content": 100.0}
{"id": "MONDO:0001142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "salivary gland disorder", "equivalent_identifiers": ["MONDO:0001142", "DOID:10854", "EFO:0008581", "UMLS:C0029773", "UMLS:C0036093", "UMLS:C0149772", "MESH:D012466", "MEDDRA:10032633", "MEDDRA:10039405", "MEDDRA:10045759", "MEDDRA:10061935", "NCIT:C26879", "SNOMEDCT:10890000", "medgen:892384", "ICD9:527.8", "HP:0010286"], "information_content": 62.8}
{"id": "HP:0007734", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged lacrimal glands", "equivalent_identifiers": ["HP:0007734", "UMLS:C1867030"], "information_content": 90.9}
{"id": "MONDO:0010971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infundibulopelvic stenosis-multicystic kidney syndrome", "equivalent_identifiers": ["MONDO:0010971", "OMIM:600989", "UMLS:C1832949", "MESH:C535528", "SNOMEDCT:725905005", "medgen:318751"], "information_content": 100.0}
{"id": "MONDO:0012518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 12", "equivalent_identifiers": ["MONDO:0012518", "DOID:0110660", "OMIM:610542", "UMLS:C3552335", "NCIT:C168997", "medgen:765249"], "information_content": 100.0}
{"id": "MONDO:0007849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratitis fugax hereditaria", "equivalent_identifiers": ["MONDO:0007849", "OMIM:148200", "orphanet:647815", "UMLS:C1835697", "MESH:C563650", "SNOMEDCT:1336030008", "medgen:372107"], "information_content": 100.0}
{"id": "MONDO:0957575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amegakaryocytic thrombocytopenia, congenital, 2", "equivalent_identifiers": ["MONDO:0957575", "DOID:0061002", "OMIM:620481", "UMLS:C5882679", "medgen:1848998"], "information_content": 100.0}
{"id": "MONDO:0009140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silverman-Handmaker type dyssegmental dysplasia", "equivalent_identifiers": ["MONDO:0009140", "DOID:0090032", "OMIM:224410", "orphanet:1865", "UMLS:C1857100", "MESH:C537998", "SNOMEDCT:765204000", "SNOMEDCT:93132001", "medgen:347372"], "information_content": 100.0}
{"id": "MONDO:0012748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 7", "equivalent_identifiers": ["MONDO:0012748", "DOID:0110605", "OMIM:611884", "UMLS:C2678473", "UMLS:C4552030", "MESH:C567504", "medgen:394834"], "information_content": 100.0}
{"id": "MONDO:0014503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 17", "equivalent_identifiers": ["MONDO:0014503", "DOID:0080064", "OMIM:616127", "orphanet:453521", "UMLS:C4015301", "SNOMEDCT:1237625002", "medgen:863738"], "information_content": 100.0}
{"id": "MONDO:0014983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 21", "equivalent_identifiers": ["MONDO:0014983", "DOID:0110672", "OMIM:617239", "UMLS:C4310654", "medgen:934621"], "information_content": 100.0}
{"id": "MONDO:0012750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal arthrogryposis-anterior horn cell disease syndrome", "equivalent_identifiers": ["MONDO:0012750", "OMIM:611890", "orphanet:53696", "UMLS:C2678471", "UMLS:C5193016", "MESH:C567502", "SNOMEDCT:715565004", "medgen:1677784"], "information_content": 100.0}
{"id": "HP:0007277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paucity of anterior horn motor neurons", "equivalent_identifiers": ["HP:0007277", "UMLS:C2673351"], "information_content": 100.0}
{"id": "MONDO:0011202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RHYNS syndrome", "equivalent_identifiers": ["MONDO:0011202", "OMIM:602152", "orphanet:140976", "UMLS:C1865794", "MESH:C537612", "SNOMEDCT:723999009", "medgen:356371"], "information_content": 100.0}
{"id": "MONDO:0009241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fountain syndrome", "equivalent_identifiers": ["MONDO:0009241", "OMIM:229120", "orphanet:3219", "UMLS:C0795944", "MESH:C537270", "MEDDRA:10083946", "SNOMEDCT:720957007", "medgen:208650"], "information_content": 100.0}
{"id": "MONDO:0014138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 8", "equivalent_identifiers": ["MONDO:0014138", "DOID:0110930", "OMIM:615348", "UMLS:C3809209", "NCIT:C129871", "medgen:815539"], "information_content": 100.0}
{"id": "MONDO:0008838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia - deafness - intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008838", "OMIM:208850", "orphanet:1188", "UMLS:C0796045", "UMLS:C4304023", "MESH:C535295", "SNOMEDCT:720517001", "medgen:208659", "icd11.foundation:2133046984"], "information_content": 100.0}
{"id": "MONDO:0008558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune thrombocytopenic purpura", "equivalent_identifiers": ["MONDO:0008558", "DOID:8924", "OMIM:188030", "orphanet:3002", "EFO:0007160", "UMLS:C0398650", "MESH:D016553", "MEDDRA:10021243", "MEDDRA:10021245", "MEDDRA:10051064", "MEDDRA:10074667", "MEDDRA:10083843", "NCIT:C3446", "medgen:584986", "icd11.foundation:364346400", "ICD10:D69.3", "ICD9:287.31"], "information_content": 100.0}
{"id": "MONDO:0009292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to glycogen branching enzyme deficiency", "equivalent_identifiers": ["MONDO:0009292", "DOID:2750", "OMIM:232500", "orphanet:367", "UMLS:C0017923", "UMLS:C1856301", "UMLS:C2936914", "MESH:C537275", "MESH:C565539", "MESH:D006011", "MEDDRA:10018467", "MEDDRA:10053249", "MEDDRA:10053258", "NCIT:C84737", "SNOMEDCT:11179002", "SNOMEDCT:124267007", "medgen:6642"], "information_content": 85.5}
{"id": "MONDO:0008152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicentric carpo-tarsal osteolysis with or without nephropathy", "equivalent_identifiers": ["MONDO:0008152", "DOID:0111534", "OMIM:166300", "orphanet:2774", "UMLS:C2674705", "MESH:C567171", "NCIT:C178416", "SNOMEDCT:766992008", "medgen:436237"], "information_content": 100.0}
{"id": "HP:0001473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metatarsal osteolysis", "equivalent_identifiers": ["HP:0001473", "UMLS:C1854614"], "information_content": 95.4}
{"id": "HP:0001504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metacarpal osteolysis", "equivalent_identifiers": ["HP:0001504", "UMLS:C1854610"], "information_content": 95.4}
{"id": "HP:0001785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle swelling", "equivalent_identifiers": ["HP:0001785", "UMLS:C0235439", "MEDDRA:10002542", "MEDDRA:10002546", "MEDDRA:10002553", "MEDDRA:10002554", "MEDDRA:10002555", "MEDDRA:10042715", "SNOMEDCT:26237000", "SNOMEDCT:267039000"], "information_content": 100.0}
{"id": "HP:0005021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral elbow dislocations", "equivalent_identifiers": ["HP:0005021", "UMLS:C3278429"], "information_content": 100.0}
{"id": "HP:0012586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral renal atrophy", "equivalent_identifiers": ["HP:0012586", "UMLS:C4022835"], "information_content": 100.0}
{"id": "MONDO:0012591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 5", "equivalent_identifiers": ["MONDO:0012591", "DOID:0110344", "OMIM:610967", "orphanet:216828", "UMLS:C2931093", "MESH:C567042", "SNOMEDCT:1003379004", "medgen:419332", "icd11.foundation:1718903422"], "information_content": 100.0}
{"id": "HP:0030268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplastic callus formation", "equivalent_identifiers": ["HP:0030268", "UMLS:C4022548"], "information_content": 100.0}
{"id": "HP:0005084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior radial head dislocation", "equivalent_identifiers": ["HP:0005084", "UMLS:C2674451"], "information_content": 100.0}
{"id": "MONDO:0010227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 3", "equivalent_identifiers": ["MONDO:0010227", "DOID:0110414", "OMIM:300029", "UMLS:C1845667", "MESH:C564520", "medgen:336999"], "information_content": 100.0}
{"id": "MONDO:0009533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dahlberg-Borer-Newcomer syndrome", "equivalent_identifiers": ["MONDO:0009533", "OMIM:247410", "orphanet:1563", "UMLS:C1855477", "MESH:C535769", "SNOMEDCT:721083007", "medgen:383693", "icd11.foundation:1407652122"], "information_content": 100.0}
{"id": "MONDO:0008634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urticaria, familial localized heat", "equivalent_identifiers": ["MONDO:0008634", "OMIM:191950", "UMLS:C1860551", "MESH:C566011", "medgen:395922"], "information_content": 100.0}
{"id": "MONDO:0007355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveal coloboma-cleft lip and palate-intellectual disability", "equivalent_identifiers": ["MONDO:0007355", "DOID:0111249", "OMIM:120433", "orphanet:1473", "UMLS:C0795902", "UMLS:C3805432", "MESH:C535971", "medgen:811762"], "information_content": 100.0}
{"id": "MONDO:0009464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency with defective T-cell response to interleukin 1", "equivalent_identifiers": ["MONDO:0009464", "OMIM:243110", "UMLS:C1855735", "medgen:340948"], "information_content": 100.0}
{"id": "MONDO:0030907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 106", "equivalent_identifiers": ["MONDO:0030907", "DOID:0080240", "OMIM:300997", "UMLS:C4478379", "medgen:1389156"], "information_content": 100.0}
{"id": "MONDO:0859261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "attention deficit-hyperactivity disorder 8", "equivalent_identifiers": ["MONDO:0859261", "OMIM:619957", "UMLS:C5677018", "medgen:1808030"], "information_content": 100.0}
{"id": "MONDO:0010509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 104", "equivalent_identifiers": ["MONDO:0010509", "DOID:0112018", "OMIM:300983", "UMLS:C4310817", "medgen:934784"], "information_content": 100.0}
{"id": "MONDO:0008393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rubinstein-Taybi syndrome due to CREBBP mutations", "equivalent_identifiers": ["MONDO:0008393", "OMIM:180849", "orphanet:353277", "UMLS:C4551859", "NCIT:C153290", "medgen:1639327"], "information_content": 100.0}
{"id": "HP:0008107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plantar crease between first and second toes", "equivalent_identifiers": ["HP:0008107", "UMLS:C1867132"], "information_content": 100.0}
{"id": "HP:0034227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortic isthmus hypoplasia", "equivalent_identifiers": ["HP:0034227", "UMLS:C5676813"], "information_content": 100.0}
{"id": "MONDO:0009190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia of femoral head, myopia, and deafness", "equivalent_identifiers": ["MONDO:0009190", "OMIM:226950", "UMLS:C1856918", "MESH:C565585", "medgen:346470"], "information_content": 100.0}
{"id": "HP:0010574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the epiphysis of the femoral head", "equivalent_identifiers": ["HP:0010574", "UMLS:C4021252"], "information_content": 81.7}
{"id": "MONDO:0009029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranial nerves, congenital paresis of", "equivalent_identifiers": ["MONDO:0009029", "OMIM:218100", "UMLS:C1857531", "MESH:C565673", "medgen:346609"], "information_content": 100.0}
{"id": "MONDO:0010028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sialuria", "equivalent_identifiers": ["MONDO:0010028", "DOID:3659", "OMIM:269921", "orphanet:3166", "UMLS:C0342853", "MESH:D029461", "MEDDRA:10067529", "SNOMEDCT:238051008", "medgen:137980", "icd11.foundation:154329034"], "information_content": 100.0}
{"id": "HP:0410156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of N-acetylneuraminic acid in urine", "equivalent_identifiers": ["HP:0410156", "UMLS:C4703650", "UMLS:C5936797"], "information_content": 100.0}
{"id": "MONDO:0958011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 117", "equivalent_identifiers": ["MONDO:0958011", "DOID:0061083", "OMIM:620668", "UMLS:C5882739", "medgen:1848763"], "information_content": 100.0}
{"id": "HP:0410395", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased effector memory CD8+ T cell proportion", "equivalent_identifiers": ["HP:0410395", "UMLS:C5139556"], "information_content": 100.0}
{"id": "MONDO:0018312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histoplasmosis", "equivalent_identifiers": ["MONDO:0018312", "DOID:1731", "orphanet:390", "EFO:0007310", "UMLS:C0019655", "MESH:D006660", "MEDDRA:10020140", "MEDDRA:10020141", "MEDDRA:10020147", "MEDDRA:10020151", "MEDDRA:10021816", "NCIT:C77201", "SNOMEDCT:12962009", "medgen:42468", "icd11.foundation:1303003466", "icd11.foundation:1553838370", "ICD10:B39", "ICD9:115", "HP:0032256"], "information_content": 88.2}
{"id": "HP:0500265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CD8+ TEMRA T cell proportion", "equivalent_identifiers": ["HP:0500265", "UMLS:C5398015"], "information_content": 100.0}
{"id": "HP:0410389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased central memory CD8+ T cell proportion", "equivalent_identifiers": ["HP:0410389", "UMLS:C5139550"], "information_content": 100.0}
{"id": "HP:0430108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive Mycobacterium avium sputum culture", "equivalent_identifiers": ["HP:0430108", "UMLS:C5936862"], "information_content": 100.0}
{"id": "MONDO:0859318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism, type IB3, autosomal recessive", "equivalent_identifiers": ["MONDO:0859318", "OMIM:620126", "UMLS:C5774256", "medgen:1824029"], "information_content": 100.0}
{"id": "MONDO:0009692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelofibrosis", "equivalent_identifiers": ["MONDO:0009692", "DOID:4971", "OMIM:254450", "orphanet:824", "EFO:0002430", "UMLS:C0001815", "UMLS:C0948968", "UMLS:C2355576", "MESH:D055728", "MEDDRA:10053134", "MEDDRA:10077161", "NCIT:C2862", "SNOMEDCT:128843003", "SNOMEDCT:307651005", "medgen:7929", "icd11.foundation:1407285327", "icd11.foundation:336704235", "ICD10:D47.4", "ICD10:D75.81", "ICD9:238.76", "ICD9:289.83"], "information_content": 86.3}
{"id": "MONDO:0009130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyggve-Melchior-Clausen disease", "equivalent_identifiers": ["MONDO:0009130", "DOID:0111167", "OMIM:223800", "orphanet:239", "UMLS:C0265286", "MESH:C535726", "NCIT:C124844", "SNOMEDCT:82699004", "medgen:120527", "icd11.foundation:21266164"], "information_content": 95.4}
{"id": "HP:0034414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick oral frenulum", "equivalent_identifiers": ["HP:0034414", "UMLS:C5826380"], "information_content": 100.0}
{"id": "HP:0004997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multicentric ossification of proximal humeral epiphyses", "equivalent_identifiers": ["HP:0004997", "UMLS:C1857192"], "information_content": 100.0}
{"id": "HP:0006450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multicentric ossification of proximal femoral epiphyses", "equivalent_identifiers": ["HP:0006450", "UMLS:C1857193"], "information_content": 95.4}
{"id": "MONDO:0014666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 11", "equivalent_identifiers": ["MONDO:0014666", "DOID:0060792", "OMIM:616494", "UMLS:C4225305", "medgen:897960", "ICD10:G11.1"], "information_content": 100.0}
{"id": "MONDO:0044329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, type 18", "equivalent_identifiers": ["MONDO:0044329", "DOID:0111848", "OMIM:617952", "UMLS:C4693736", "medgen:1635201"], "information_content": 100.0}
{"id": "MONDO:0009059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cysteine Peptiduria", "equivalent_identifiers": ["MONDO:0009059", "OMIM:219550", "UMLS:C1857438", "MESH:C565659", "medgen:346587"], "information_content": 100.0}
{"id": "HP:0010918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating cysteine concentration", "equivalent_identifiers": ["HP:0010918", "UMLS:C4023652", "UMLS:C5139050"], "information_content": 92.8}
{"id": "HP:0010895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating glycine concentration", "equivalent_identifiers": ["HP:0010895", "UMLS:C4023670", "UMLS:C5139043"], "information_content": 87.2}
{"id": "MONDO:0007829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, intrahepatic, of pregnancy, 1", "equivalent_identifiers": ["MONDO:0007829", "DOID:0070228", "OMIM:147480", "UMLS:C3549845", "medgen:762759"], "information_content": 100.0}
{"id": "HP:0005250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High intestinal obstruction", "equivalent_identifiers": ["HP:0005250", "UMLS:C4025227"], "information_content": 100.0}
{"id": "MONDO:0011706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kufor-Rakeb syndrome", "equivalent_identifiers": ["MONDO:0011706", "DOID:0060556", "OMIM:606693", "orphanet:306674", "UMLS:C1847640", "MESH:C537177", "NCIT:C203534", "SNOMEDCT:723992000", "medgen:338281"], "information_content": 95.4}
{"id": "MONDO:0012675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticosteroid-binding globulin deficiency", "equivalent_identifiers": ["MONDO:0012675", "DOID:0090030", "OMIM:611489", "orphanet:199247", "UMLS:C1852529", "UMLS:C1969107", "MESH:C565152", "MESH:C566934", "SNOMEDCT:773728004", "medgen:343831", "ICD10:E27.8"], "information_content": 100.0}
{"id": "HP:6000243", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating cortisol-binding globulin concentration", "equivalent_identifiers": ["HP:6000243", "UMLS:C5937066"], "information_content": 100.0}
{"id": "HP:0012364", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urinary potassium", "equivalent_identifiers": ["HP:0012364", "UMLS:C0268024", "UMLS:C0878640", "SNOMEDCT:54781007"], "information_content": 95.4}
{"id": "MONDO:0958000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies", "equivalent_identifiers": ["MONDO:0958000", "OMIM:620654", "UMLS:C5882734", "medgen:1846947"], "information_content": 100.0}
{"id": "MONDO:0012558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia, Baumann type", "equivalent_identifiers": ["MONDO:0012558", "OMIM:610797", "UMLS:C1835830", "MESH:C563664", "medgen:322764"], "information_content": 100.0}
{"id": "HP:0009196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent metacarpal epiphyses", "equivalent_identifiers": ["HP:0009196", "UMLS:C4021513"], "information_content": 95.4}
{"id": "MONDO:0014363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 101", "equivalent_identifiers": ["MONDO:0014363", "DOID:0110462", "OMIM:615837", "UMLS:C3892049", "medgen:856148"], "information_content": 100.0}
{"id": "MONDO:0014274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "L-ferritin deficiency", "equivalent_identifiers": ["MONDO:0014274", "OMIM:615604", "orphanet:440731", "UMLS:C3810090", "SNOMEDCT:1217208003", "medgen:816420"], "information_content": 100.0}
{"id": "MONDO:0014864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypermanganesemia with dystonia 2", "equivalent_identifiers": ["MONDO:0014864", "DOID:0080537", "OMIM:617013", "orphanet:521406", "UMLS:C4310765", "SNOMEDCT:768554008", "medgen:934732"], "information_content": 100.0}
{"id": "MONDO:0011792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 6", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0011792", "DOID:0112189", "OMIM:607200", "UMLS:C1846632", "MESH:C564608", "medgen:375935"], "information_content": 100.0}
{"id": "MONDO:0011974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 7", "equivalent_identifiers": ["MONDO:0011974", "DOID:0110383", "OMIM:608133", "UMLS:C1842475", "UMLS:C2675552", "UMLS:C4013102", "MESH:C564284", "MESH:C567263", "medgen:334168"], "information_content": 100.0}
{"id": "MONDO:0007974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 1", "equivalent_identifiers": ["MONDO:0007974", "DOID:0070031", "OMIM:156200", "UMLS:C1969562", "UMLS:C3277090", "UMLS:C5677023", "MESH:C566947", "NCIT:C141424", "medgen:409857"], "information_content": 100.0}
{"id": "MONDO:0030729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tessadori-van Haaften neurodevelopmental syndrome 1", "equivalent_identifiers": ["MONDO:0030729", "OMIM:619758", "UMLS:C5676922", "medgen:1810348"], "information_content": 100.0}
{"id": "MONDO:0859569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Braddock-Carey syndrome 1", "equivalent_identifiers": ["MONDO:0859569", "OMIM:619980", "UMLS:C5774188", "medgen:1823961"], "information_content": 100.0}
{"id": "MONDO:0006655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve prolapse", "equivalent_identifiers": ["MONDO:0006655", "DOID:5232", "EFO:1000815", "UMLS:C0003505", "MESH:D001023", "MEDDRA:10057454", "medgen:1619", "HP:0025578"], "information_content": 100.0}
{"id": "OMIM:600209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exostoses, Multiple, Type III", "equivalent_identifiers": ["OMIM:600209", "UMLS:C1838420", "MESH:C563975"]}
{"id": "MONDO:0014067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short ulna-dysmorphism-hypotonia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014067", "DOID:0081201", "OMIM:615162", "orphanet:357175", "UMLS:C3554609", "medgen:767523"], "information_content": 100.0}
{"id": "MONDO:0009854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroneus tertius muscle, absence of", "equivalent_identifiers": ["MONDO:0009854", "OMIM:261400", "UMLS:C1850001", "medgen:376684"], "information_content": 100.0}
{"id": "MONDO:0008857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beemer-Ertbruggen syndrome", "equivalent_identifiers": ["MONDO:0008857", "OMIM:209970", "orphanet:1237", "UMLS:C1859526", "MESH:C537668", "SNOMEDCT:717859007", "medgen:347174"], "information_content": 100.0}
{"id": "MONDO:0013291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease XV", "equivalent_identifiers": ["MONDO:0013291", "DOID:0050579", "OMIM:613507", "orphanet:263297", "UMLS:C3150754", "UMLS:C4303568", "SNOMEDCT:717821004", "medgen:462104"], "information_content": 100.0}
{"id": "MONDO:0012083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 28", "equivalent_identifiers": ["MONDO:0012083", "DOID:0110557", "OMIM:608641", "UMLS:C1837640", "MESH:C563890", "medgen:324846"], "information_content": 100.0}
{"id": "MONDO:0009301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 7", "equivalent_identifiers": ["MONDO:0009301", "DOID:0111774", "OMIM:233420", "UMLS:C1856273", "MESH:C565537", "medgen:383876"], "information_content": 100.0}
{"id": "HP:0009714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal epididymis morphology", "equivalent_identifiers": ["HP:0009714", "UMLS:C4024222"], "information_content": 76.7}
{"id": "MONDO:0033310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 31", "equivalent_identifiers": ["MONDO:0033310", "DOID:0080277", "OMIM:617761", "UMLS:C4540355", "medgen:1618082"], "information_content": 100.0}
{"id": "MONDO:0009928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary alveolar microlithiasis", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009928", "DOID:12117", "OMIM:265100", "orphanet:60025", "UMLS:C0155912", "MESH:C562405", "MEDDRA:10037315", "SNOMEDCT:87153008", "medgen:56374", "icd11.foundation:1220010076", "ICD10:J84.02", "ICD9:516.2"], "information_content": 100.0}
{"id": "HP:0006520", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive pulmonary function impairment", "equivalent_identifiers": ["HP:0006520", "UMLS:C1849570"], "information_content": 100.0}
{"id": "HP:0006514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intraalveolar nodular calcifications", "equivalent_identifiers": ["HP:0006514", "UMLS:C4025028"], "information_content": 95.4}
{"id": "MONDO:0012556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DK1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012556", "DOID:0080565", "OMIM:610768", "orphanet:91131", "UMLS:C1835849", "MESH:C563666", "SNOMEDCT:718712005", "medgen:332072"], "information_content": 100.0}
{"id": "HP:0012340", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased resting energy expenditure", "equivalent_identifiers": ["HP:0012340", "UMLS:C4022947"], "information_content": 100.0}
{"id": "MONDO:0009218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Farber lipogranulomatosis", "equivalent_identifiers": ["MONDO:0009218", "DOID:0050464", "OMIM:228000", "orphanet:333", "UMLS:C0268255", "MESH:D055577", "MEDDRA:10083969", "NCIT:C84710", "SNOMEDCT:79935000", "medgen:78654"], "information_content": 100.0}
{"id": "MONDO:0024617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthogranuloma", "equivalent_identifiers": ["MONDO:0024617", "UMLS:C1704214", "UMLS:C1704215", "UMLS:C5234857", "MEDDRA:10049940", "MEDDRA:10051251", "MEDDRA:10066886", "NCIT:C27302", "NCIT:C4081", "SNOMEDCT:189099001", "SNOMEDCT:238892000", "SNOMEDCT:36279001", "SNOMEDCT:416439000", "SNOMEDCT:846695001", "medgen:1717859", "HP:0040139"], "information_content": 90.9}
{"id": "HP:0007470", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periarticular subcutaneous nodules", "equivalent_identifiers": ["HP:0007470", "UMLS:C3806306"], "information_content": 100.0}
{"id": "HP:0034053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased acid ceramidase activity", "equivalent_identifiers": ["HP:0034053", "UMLS:C5676653"], "information_content": 100.0}
{"id": "HP:0009134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolysis involving bones of the feet", "equivalent_identifiers": ["HP:0009134", "UMLS:C4024579"], "information_content": 77.6}
{"id": "MONDO:0958034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy, familial partial, type 9", "equivalent_identifiers": ["MONDO:0958034", "OMIM:620683", "orphanet:686999", "UMLS:C5882746", "medgen:1845936"], "information_content": 100.0}
{"id": "MONDO:0014591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Robinow syndrome 2", "equivalent_identifiers": ["MONDO:0014591", "DOID:0060765", "OMIM:616331", "UMLS:C4225363", "medgen:897039"], "information_content": 100.0}
{"id": "HP:0011994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal atrial septum morphology", "equivalent_identifiers": ["HP:0011994", "UMLS:C0344722", "SNOMEDCT:253363004"], "information_content": 81.7}
{"id": "HP:0009999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial duplication of the phalanx of hand", "equivalent_identifiers": ["HP:0009999", "UMLS:C4024120"], "information_content": 79.0}
{"id": "MONDO:0013796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17q12 duplication syndrome", "equivalent_identifiers": ["MONDO:0013796", "DOID:0060433", "OMIM:614526", "orphanet:261272", "UMLS:C3281137", "SNOMEDCT:764435003", "medgen:482767"], "information_content": 100.0}
{"id": "MONDO:0012967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia due to adenylate kinase deficiency", "equivalent_identifiers": ["MONDO:0012967", "DOID:0051004", "OMIM:612631", "orphanet:86817", "UMLS:C2675459", "MESH:C567228", "SNOMEDCT:766982000", "medgen:390802"], "information_content": 100.0}
{"id": "HP:6000558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte adenylate kinase activity", "equivalent_identifiers": ["HP:6000558", "UMLS:C5937320"], "information_content": 100.0}
{"id": "MONDO:0030689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1H", "equivalent_identifiers": ["MONDO:0030689", "OMIM:619764", "UMLS:C5676926", "medgen:1804752"], "information_content": 100.0}
{"id": "MONDO:0014647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 50", "equivalent_identifiers": ["MONDO:0014647", "DOID:0080419", "OMIM:616457", "orphanet:448010", "UMLS:C4225320", "NCIT:C190868", "SNOMEDCT:1237417007", "medgen:904125"], "information_content": 100.0}
{"id": "MONDO:0008950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral sclerosis similar to Pelizaeus-Merzbacher disease", "equivalent_identifiers": ["MONDO:0008950", "OMIM:213900", "UMLS:C1859258", "MESH:C536318", "medgen:395210"], "information_content": 100.0}
{"id": "MONDO:0035133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome", "equivalent_identifiers": ["MONDO:0035133", "OMIM:617991", "orphanet:589905", "UMLS:C4693860", "MEDDRA:10090066", "SNOMEDCT:1208987006", "medgen:1641154"], "information_content": 100.0}
{"id": "MONDO:0010502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 99, syndromic, female-restricted", "equivalent_identifiers": ["MONDO:0010502", "DOID:0112025", "OMIM:300968", "UMLS:C4225416", "medgen:899839"], "information_content": 100.0}
{"id": "MONDO:0054806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 23, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0054806", "DOID:0051034", "OMIM:617985", "UMLS:C4693843", "medgen:1631589"], "information_content": 100.0}
{"id": "MONDO:0013655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 8", "equivalent_identifiers": ["MONDO:0013655", "DOID:0070038", "OMIM:614254", "UMLS:C3280282", "medgen:481912"], "information_content": 100.0}
{"id": "MONDO:0010743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 1", "equivalent_identifiers": ["MONDO:0010743", "OMIM:313900", "orphanet:852", "UMLS:C1839163", "UMLS:C1839164", "MESH:C564052", "MESH:C564053", "NCIT:C176617", "medgen:326416"], "information_content": 100.0}
{"id": "MONDO:0009569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hennekam-Beemer syndrome", "equivalent_identifiers": ["MONDO:0009569", "OMIM:248910", "orphanet:2135", "UMLS:C1855345", "UMLS:C3151493", "UMLS:C4302582", "MESH:C536033", "SNOMEDCT:722453009", "medgen:462843"], "information_content": 100.0}
{"id": "MONDO:0010092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Filippi syndrome", "equivalent_identifiers": ["MONDO:0010092", "DOID:0112194", "OMIM:272440", "orphanet:3255", "UMLS:C0795940", "MESH:C538152", "MEDDRA:10083943", "SNOMEDCT:720954000", "medgen:163197", "icd11.foundation:1989471300"], "information_content": 100.0}
{"id": "HP:0034270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Serrated incisors", "equivalent_identifiers": ["HP:0034270", "UMLS:C4012261"], "information_content": 100.0}
{"id": "MONDO:0100221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IFAP syndrome 2", "equivalent_identifiers": ["MONDO:0100221", "OMIM:619016", "UMLS:C5436607", "medgen:1763502"], "information_content": 100.0}
{"id": "MONDO:0008497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stormorken syndrome", "equivalent_identifiers": ["MONDO:0008497", "DOID:0060354", "OMIM:185070", "orphanet:3204", "UMLS:C1861451", "MESH:C566108", "SNOMEDCT:711407000", "medgen:350028"], "information_content": 100.0}
{"id": "MONDO:0014587", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 9", "equivalent_identifiers": ["MONDO:0014587", "DOID:0110670", "OMIM:616325", "UMLS:C4225368", "medgen:895641"], "information_content": 100.0}
{"id": "HP:0030210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-muscle-specific tyrosine kinase antibody", "equivalent_identifiers": ["HP:0030210", "UMLS:C4021044"], "information_content": 100.0}
{"id": "MONDO:0009708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, myosin storage, autosomal recessive", "equivalent_identifiers": ["MONDO:0009708", "DOID:0111268", "OMIM:255160", "orphanet:636970", "UMLS:C1850709", "MESH:C564970", "medgen:340603"], "information_content": 100.0}
{"id": "HP:0033567", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right axis deviation", "equivalent_identifiers": ["HP:0033567", "UMLS:C0232296", "SNOMEDCT:47665007"], "information_content": 100.0}
{"id": "HP:0100306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber hyaline bodies", "equivalent_identifiers": ["HP:0100306", "UMLS:C4022155"], "information_content": 92.8}
{"id": "HP:0031659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fourth heart sound", "equivalent_identifiers": ["HP:0031659", "UMLS:C0425593", "SNOMEDCT:4592006"], "information_content": 100.0}
{"id": "MONDO:0030963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Li-Campeau syndrome", "equivalent_identifiers": ["MONDO:0030963", "OMIM:619189", "UMLS:C5543068", "NCIT:C201589", "medgen:1788485"], "information_content": 100.0}
{"id": "MONDO:0010698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 2", "equivalent_identifiers": ["MONDO:0010698", "DOID:0111443", "OMIM:311050", "orphanet:98890", "UMLS:C1839576", "MESH:C537125", "SNOMEDCT:721200000", "medgen:326915"], "information_content": 100.0}
{"id": "MONDO:0010216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group G", "equivalent_identifiers": ["MONDO:0010216", "DOID:0110849", "OMIM:278780", "UMLS:C0268141", "MESH:C562593", "NCIT:C3969", "SNOMEDCT:36454001", "medgen:75657"], "information_content": 92.8}
{"id": "MONDO:0009783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1", "equivalent_identifiers": ["MONDO:0009783", "DOID:0111522", "OMIM:258450", "UMLS:C4225153", "medgen:897191"], "information_content": 100.0}
{"id": "MONDO:0032655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visual impairment and progressive phthisis bulbi", "equivalent_identifiers": ["MONDO:0032655", "DOID:0070356", "OMIM:618283", "UMLS:C4748978", "medgen:1648430"], "information_content": 100.0}
{"id": "MONDO:0008151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gnathodiaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0008151", "DOID:0111533", "OMIM:166260", "orphanet:53697", "UMLS:C1833736", "MESH:C536039", "SNOMEDCT:715568002", "medgen:331575", "icd11.foundation:1984860886"], "information_content": 100.0}
{"id": "HP:0005045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diaphyseal cortical sclerosis", "equivalent_identifiers": ["HP:0005045", "UMLS:C1833739"], "information_content": 100.0}
{"id": "MONDO:0008986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "circumvallate placenta syndrome", "equivalent_identifiers": ["MONDO:0008986", "OMIM:215550", "UMLS:C1859089", "MESH:C565847", "medgen:347062"], "information_content": 100.0}
{"id": "MONDO:0013777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism type 2B", "equivalent_identifiers": ["MONDO:0013777", "OMIM:614491", "orphanet:88939", "UMLS:C1840390", "MESH:C564161", "medgen:374457", "icd11.foundation:853594829"], "information_content": 100.0}
{"id": "HP:0011423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperchloremia", "equivalent_identifiers": ["HP:0011423", "UMLS:C0085679", "MEDDRA:10020597", "MEDDRA:10020599", "SNOMEDCT:74450001"], "information_content": 100.0}
{"id": "MONDO:0014417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 38", "equivalent_identifiers": ["MONDO:0014417", "DOID:0050985", "OMIM:615957", "orphanet:423296", "EFO:0009056", "UMLS:C4518337", "SNOMEDCT:734021001", "medgen:1379865"], "information_content": 100.0}
{"id": "MONDO:0958241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial hypertrophic, 30, atrial", "equivalent_identifiers": ["MONDO:0958241", "OMIM:620734", "UMLS:C5935586", "medgen:1858408"], "information_content": 100.0}
{"id": "HP:6000693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating NT-proANP concentration", "equivalent_identifiers": ["HP:6000693", "UMLS:C5937429"], "information_content": 100.0}
{"id": "HP:6000691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left atrial fibrosis", "equivalent_identifiers": ["HP:6000691", "UMLS:C5936472"], "information_content": 100.0}
{"id": "MONDO:0014569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 7", "equivalent_identifiers": ["MONDO:0014569", "OMIM:616286", "UMLS:C4225386", "medgen:894160"], "information_content": 100.0}
{"id": "MONDO:0010375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 8", "equivalent_identifiers": ["MONDO:0010375", "DOID:0080215", "OMIM:300607", "orphanet:163985", "UMLS:C1845102", "MESH:C564474", "medgen:375581"], "information_content": 100.0}
{"id": "MONDO:0008953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 1A (Zellweger)", "equivalent_identifiers": ["MONDO:0008953", "DOID:0080476", "OMIM:214100", "UMLS:C1865803", "UMLS:C1865804", "UMLS:C4721541", "MESH:C566568", "MESH:C566569", "NCIT:C155748", "medgen:1648474"], "information_content": 100.0}
{"id": "HP:0001401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intrahepatic biliary dysgenesis", "equivalent_identifiers": ["HP:0001401", "UMLS:C1859235"], "information_content": 100.0}
{"id": "HP:0006894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic olfactory lobes", "equivalent_identifiers": ["HP:0006894", "UMLS:C1859231"], "information_content": 100.0}
{"id": "MONDO:0010992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ayme-Gripp syndrome", "equivalent_identifiers": ["MONDO:0010992", "DOID:0111688", "OMIM:601088", "EFO:0009020", "UMLS:C1832812", "MESH:C563390", "medgen:371416"], "information_content": 100.0}
{"id": "HP:0004484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Craniofacial asymmetry", "equivalent_identifiers": ["HP:0004484", "UMLS:C4025320"], "information_content": 100.0}
{"id": "MONDO:0012430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2", "equivalent_identifiers": ["MONDO:0012430", "DOID:0070557", "OMIM:610185", "UMLS:C2750234", "MESH:C567656", "medgen:412914"], "information_content": 100.0}
{"id": "MONDO:0010683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked myotubular myopathy", "equivalent_identifiers": ["MONDO:0010683", "DOID:0111225", "OMIM:310400", "orphanet:596", "UMLS:C0410203", "NCIT:C118781", "SNOMEDCT:46804001", "medgen:98374", "ICD10:G71.220"], "information_content": 92.8}
{"id": "MONDO:0008729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "equivalent_identifiers": ["MONDO:0008729", "OMIM:202010", "orphanet:90795", "UMLS:C0268292", "UMLS:C3669121", "MESH:C535978", "MEDDRA:10000002", "NCIT:C131085", "SNOMEDCT:124214007", "medgen:82783", "icd11.foundation:791376680"], "information_content": 100.0}
{"id": "MONDO:0011569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2B1", "equivalent_identifiers": ["MONDO:0011569", "DOID:0110156", "OMIM:605588", "orphanet:98856", "UMLS:C1854154", "MESH:C537990", "SNOMEDCT:725048002", "medgen:343064", "icd11.foundation:957134152"], "information_content": 100.0}
{"id": "MONDO:0007411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa, autosomal dominant 1", "equivalent_identifiers": ["MONDO:0007411", "DOID:0070130", "OMIM:123700", "UMLS:C3276539", "medgen:478169"], "information_content": 100.0}
{"id": "MONDO:0013774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigonocephaly 2", "equivalent_identifiers": ["MONDO:0013774", "OMIM:614485", "UMLS:C3280974", "medgen:482604"], "information_content": 100.0}
{"id": "MONDO:0014340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 15", "equivalent_identifiers": ["MONDO:0014340", "OMIM:615770", "UMLS:C4014269", "medgen:862706"], "information_content": 100.0}
{"id": "MONDO:0014565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 43", "equivalent_identifiers": ["MONDO:0014565", "DOID:0110259", "OMIM:616279", "UMLS:C4225389", "medgen:901691"], "information_content": 100.0}
{"id": "MONDO:0011132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "equivalent_identifiers": ["MONDO:0011132", "DOID:0060769", "OMIM:601705", "orphanet:169095", "UMLS:C1866426", "MESH:C536781", "SNOMEDCT:720345008", "medgen:355713"], "information_content": 100.0}
{"id": "MONDO:0032637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 39", "equivalent_identifiers": ["MONDO:0032637", "DOID:0111854", "OMIM:618254", "UMLS:C4748841", "medgen:1648363"], "information_content": 100.0}
{"id": "MONDO:0007626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial congenital palsy of trochlear nerve", "equivalent_identifiers": ["MONDO:0007626", "OMIM:136480", "orphanet:91498", "UMLS:C1850996", "MESH:C565007", "SNOMEDCT:782679002", "medgen:338185"], "information_content": 100.0}
{"id": "HP:0025592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superior oblique muscle weakness", "equivalent_identifiers": ["HP:0025592", "UMLS:C4703403"], "information_content": 92.8}
{"id": "MONDO:0001146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fourth cranial nerve palsy", "equivalent_identifiers": ["MONDO:0001146", "DOID:10869", "UMLS:C0271375", "MEDDRA:10017069", "MEDDRA:10023109", "MEDDRA:10023110", "MEDDRA:10044692", "MEDDRA:10050047", "MEDDRA:10052886", "MEDDRA:10054201", "NCIT:C180994", "SNOMEDCT:20610004", "medgen:75746", "HP:0007011"], "information_content": 95.4}
{"id": "HP:0011514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of binocular vision", "equivalent_identifiers": ["HP:0011514", "UMLS:C4023320"], "information_content": 90.9}
{"id": "MONDO:0030911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 46", "equivalent_identifiers": ["MONDO:0030911", "DOID:0080237", "OMIM:617601", "UMLS:C4539851", "medgen:1618560"], "information_content": 100.0}
{"id": "MONDO:0007205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphyseal medullary stenosis-bone malignancy syndrome", "equivalent_identifiers": ["MONDO:0007205", "DOID:0080664", "OMIM:112250", "orphanet:85182", "UMLS:C1862177", "MESH:C536169", "NCIT:C122660", "medgen:350613"], "information_content": 100.0}
{"id": "MONDO:0005164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosarcoma", "equivalent_identifiers": ["MONDO:0005164", "DOID:3355", "orphanet:2030", "EFO:0002087", "UMLS:C0016057", "UMLS:C1302856", "UMLS:C1336021", "MESH:D005354", "MEDDRA:10016632", "MEDDRA:10016634", "MEDDRA:10016637", "NCIT:C3043", "NCIT:C6605", "SNOMEDCT:1290852005", "SNOMEDCT:400163001", "SNOMEDCT:443250000", "SNOMEDCT:53654007", "medgen:5178", "HP:0100244"], "information_content": 73.1}
{"id": "HP:0100254", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stenosis of the medullary cavity of the long bones", "equivalent_identifiers": ["HP:0100254", "UMLS:C4022179"], "information_content": 100.0}
{"id": "MONDO:0010443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular degeneration, X-linked atrophic", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010443", "DOID:0112157", "OMIM:300834", "UMLS:C3151784", "medgen:463134"], "information_content": 100.0}
{"id": "MONDO:0030487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, pagnamenta type", "equivalent_identifiers": ["MONDO:0030487", "OMIM:619638", "UMLS:C5562030", "medgen:1794240"], "information_content": 100.0}
{"id": "MONDO:0014953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gnb5-related intellectual disability-cardiac arrhythmia syndrome", "equivalent_identifiers": ["MONDO:0014953", "DOID:0081008", "OMIM:617173", "orphanet:542306", "UMLS:C5568877", "NCIT:C164154", "SNOMEDCT:1186711002", "medgen:1800300"], "information_content": 100.0}
{"id": "MONDO:0032623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 18", "equivalent_identifiers": ["MONDO:0032623", "DOID:0112070", "OMIM:618240", "UMLS:C4748790", "medgen:1648321"], "information_content": 100.0}
{"id": "MONDO:0010190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 2A", "equivalent_identifiers": ["MONDO:0010190", "DOID:0060267", "OMIM:277470", "UMLS:C1848526", "MESH:C564738", "medgen:376379"], "information_content": 100.0}
{"id": "MONDO:0030925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 10", "equivalent_identifiers": ["MONDO:0030925", "OMIM:619176", "UMLS:C5436938", "medgen:1766720"], "information_content": 100.0}
{"id": "HP:4000008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Formation of multiple pronuclei during fertilization", "equivalent_identifiers": ["HP:4000008", "UMLS:C5539859"], "information_content": 100.0}
{"id": "MONDO:0011629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MOGS-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011629", "DOID:0070254", "OMIM:606056", "orphanet:79330", "UMLS:C1853736", "MESH:C565264", "SNOMEDCT:725028009", "medgen:342954"], "information_content": 100.0}
{"id": "HP:6000576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue mannosyl-oligosaccharide glucosidase activity", "equivalent_identifiers": ["HP:6000576", "UMLS:C5937338"], "information_content": 100.0}
{"id": "MONDO:0032645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichohepatoneurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0032645", "OMIM:618268", "UMLS:C4748898", "medgen:1648322"], "information_content": 100.0}
{"id": "MONDO:0014445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 17", "equivalent_identifiers": ["MONDO:0014445", "DOID:0110139", "OMIM:615994", "UMLS:C3714980", "medgen:811538"], "information_content": 100.0}
{"id": "MONDO:0017456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central polydactyly of fingers", "equivalent_identifiers": ["MONDO:0017456", "orphanet:295004", "UMLS:C0431903", "UMLS:C1848595", "UMLS:C4020689", "MEDDRA:10089193", "SNOMEDCT:205130008", "medgen:609220", "icd11.foundation:243366415", "HP:0100260"], "information_content": 74.9}
{"id": "MONDO:0009079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DOORS syndrome", "equivalent_identifiers": ["MONDO:0009079", "DOID:0111627", "OMIM:220500", "orphanet:79500", "UMLS:C0795927", "UMLS:C0795934", "MESH:C538204", "MESH:C563052", "MEDDRA:10080835", "SNOMEDCT:719800009", "medgen:208648"], "information_content": 100.0}
{"id": "MONDO:0009132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysautonomia-like disorder", "equivalent_identifiers": ["MONDO:0009132", "OMIM:224000", "UMLS:C1857153", "MESH:C535728", "medgen:347385"], "information_content": 100.0}
{"id": "MONDO:0008653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesicoureteral reflux 1", "equivalent_identifiers": ["MONDO:0008653", "OMIM:193000", "UMLS:C4551858", "medgen:1644868"], "information_content": 100.0}
{"id": "MONDO:0859302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2", "equivalent_identifiers": ["MONDO:0859302", "OMIM:620085", "UMLS:C5774237", "medgen:1824010"], "information_content": 100.0}
{"id": "MONDO:0033312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 19", "equivalent_identifiers": ["MONDO:0033312", "DOID:0080281", "OMIM:617629", "UMLS:C4539944", "medgen:1613937"], "information_content": 100.0}
{"id": "MONDO:0100476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy, partial, acquired, susceptibility to", "equivalent_identifiers": ["MONDO:0100476", "OMIM:608709", "EFO:0020027", "UMLS:C3887501", "medgen:854363", "medgen:C3887501"], "information_content": 100.0}
{"id": "MONDO:0007297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ADan amyloidosis", "equivalent_identifiers": ["MONDO:0007297", "DOID:0070030", "OMIM:117300", "orphanet:97346", "UMLS:C1861735", "MESH:C538209", "SNOMEDCT:783258000", "medgen:396208", "icd11.foundation:54507082"], "information_content": 100.0}
{"id": "MONDO:0013069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 7", "equivalent_identifiers": ["MONDO:0013069", "DOID:0111437", "OMIM:612989", "orphanet:227976", "UMLS:C2751812", "MESH:C567833", "medgen:414112"], "information_content": 100.0}
{"id": "MONDO:0014431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LIPE-related familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0014431", "DOID:0070206", "OMIM:615980", "orphanet:435660", "UMLS:C4014869", "SNOMEDCT:1197751007", "medgen:863306"], "information_content": 100.0}
{"id": "MONDO:0013227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital plasminogen activator inhibitor type 1 deficiency", "equivalent_identifiers": ["MONDO:0013227", "OMIM:613329", "orphanet:465", "UMLS:C2750067", "UMLS:C4273899", "MESH:C567640", "NCIT:C133884", "SNOMEDCT:717407006", "medgen:412870", "icd11.foundation:428643962"], "information_content": 100.0}
{"id": "MONDO:0014334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to LCK deficiency", "equivalent_identifiers": ["MONDO:0014334", "DOID:0111937", "OMIM:615758", "orphanet:280142", "UMLS:C4014233", "NCIT:C176808", "medgen:862670", "icd11.foundation:999642330"], "information_content": 100.0}
{"id": "MONDO:0001956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Capillary leak", "equivalent_identifiers": ["MONDO:0001956", "DOID:14400", "orphanet:188", "EFO:1001284", "UMLS:C0343084", "UMLS:C1382398", "MESH:D019559", "MEDDRA:10007196", "MEDDRA:10007200", "MEDDRA:10034694", "MEDDRA:10068429", "NCIT:C62578", "SNOMEDCT:1608005", "SNOMEDCT:87730004", "medgen:137987", "HP:0030005"], "information_content": 100.0}
{"id": "MONDO:0007820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double tooth", "equivalent_identifiers": ["MONDO:0007820", "OMIM:147251", "orphanet:2287", "UMLS:C3494175", "UMLS:C4551900", "SNOMEDCT:707796002", "medgen:488128", "icd11.foundation:1109888650", "HP:0011089"], "information_content": 92.8}
{"id": "MONDO:0859046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdomyosarcoma, embryonal, 2", "equivalent_identifiers": ["MONDO:0859046", "OMIM:180295", "UMLS:C1867234", "MESH:C566709", "medgen:357232"], "information_content": 100.0}
{"id": "MONDO:0037253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian thecoma", "equivalent_identifiers": ["MONDO:0037253", "UMLS:C1882229", "UMLS:C4721567", "MEDDRA:10073261", "MEDDRA:10073274", "NCIT:C66989", "SNOMEDCT:254864005", "medgen:364155", "HP:0030983"], "information_content": 86.3}
{"id": "MONDO:0013943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 8B", "equivalent_identifiers": ["MONDO:0013943", "DOID:0081437", "OMIM:614877", "UMLS:C3553960", "NCIT:C155763", "medgen:766874"], "information_content": 100.0}
{"id": "OMIM:162210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NEUROFIBROMATOSIS, FAMILIAL SPINAL", "equivalent_identifiers": ["OMIM:162210", "UMLS:C1834235", "MESH:C563523", "SNOMEDCT:1003465006"]}
{"id": "HP:0006851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symmetric spinal nerve root neurofibromas", "equivalent_identifiers": ["HP:0006851", "UMLS:C1834236"], "information_content": 100.0}
{"id": "HP:0009735", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal neurofibroma", "equivalent_identifiers": ["HP:0009735", "UMLS:C4024217"], "information_content": 95.4}
{"id": "MONDO:0010938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "equivalent_identifiers": ["MONDO:0010938", "OMIM:600802", "orphanet:35078", "UMLS:C1833275", "MESH:C563440", "NCIT:C176807", "SNOMEDCT:718107000", "medgen:331474"], "information_content": 100.0}
{"id": "HP:0033581", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent peripheral lymph nodes in presence of infection", "equivalent_identifiers": ["HP:0033581", "UMLS:C5539700"], "information_content": 100.0}
{"id": "MONDO:0026762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wieacker-Wolff syndrome, female-restricted", "equivalent_identifiers": ["MONDO:0026762", "DOID:0061015", "OMIM:301041", "UMLS:C5393303", "NCIT:C198578", "medgen:1715791"], "information_content": 100.0}
{"id": "MONDO:0009475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isovaleric acidemia", "equivalent_identifiers": ["MONDO:0009475", "DOID:14753", "OMIM:243500", "orphanet:33", "UMLS:C0268575", "MESH:C538167", "MEDDRA:10083852", "MEDDRA:10083874", "NCIT:C98964", "SNOMEDCT:87827003", "medgen:82822", "ICD10:E71.110"], "information_content": 100.0}
{"id": "HP:6000602", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary isovalerylglycine level", "equivalent_identifiers": ["HP:6000602", "UMLS:C5937357"], "information_content": 100.0}
{"id": "HP:4000210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000210", "UMLS:C5872959"], "information_content": 100.0}
{"id": "HP:6001063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sweaty foot-like odor", "equivalent_identifiers": ["HP:6001063", "UMLS:C5970387"], "information_content": 100.0}
{"id": "MONDO:0054861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 63", "equivalent_identifiers": ["MONDO:0054861", "DOID:0081224", "OMIM:618095", "UMLS:C4748167", "medgen:1648348"], "information_content": 100.0}
{"id": "MONDO:0009614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria, cblB type", "equivalent_identifiers": ["MONDO:0009614", "DOID:0060743", "OMIM:251110", "orphanet:79311", "EFO:0009074", "UMLS:C1855102", "MESH:C537361", "NCIT:C142172", "medgen:344420"], "information_content": 100.0}
{"id": "HP:0035024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating methylmalonylcarnitine concentration", "equivalent_identifiers": ["HP:0035024", "UMLS:C5872925"], "information_content": 100.0}
{"id": "MONDO:0013931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 4B", "equivalent_identifiers": ["MONDO:0013931", "DOID:0081433", "OMIM:614863", "UMLS:C3553937", "NCIT:C155755", "medgen:766851"], "information_content": 100.0}
{"id": "MONDO:0008267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome V", "equivalent_identifiers": ["MONDO:0008267", "DOID:0060375", "OMIM:174300", "orphanet:2919", "UMLS:C1868118", "MESH:C557819", "SNOMEDCT:722105002", "medgen:358131"], "information_content": 100.0}
{"id": "MONDO:0007465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distichiasis with congenital anomalies of the heart and peripheral vasculature", "equivalent_identifiers": ["MONDO:0007465", "OMIM:126320", "UMLS:C1852062", "MESH:C565092", "medgen:338862"], "information_content": 100.0}
{"id": "MONDO:0859523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 2c, severe infantile, autosomal dominant", "equivalent_identifiers": ["MONDO:0859523", "DOID:0081340", "OMIM:620278", "UMLS:C5830333", "medgen:1840969"], "information_content": 100.0}
{"id": "HP:0012084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of skeletal muscle fiber size", "equivalent_identifiers": ["HP:0012084", "UMLS:C4023051"], "information_content": 92.8}
{"id": "MONDO:0859516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum", "equivalent_identifiers": ["MONDO:0859516", "OMIM:620250", "UMLS:C5830296", "medgen:1840932"], "information_content": 100.0}
{"id": "MONDO:0030060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with language impairment and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0030060", "OMIM:618917", "UMLS:C5394502", "medgen:1708389"], "information_content": 100.0}
{"id": "MONDO:0014487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014487", "DOID:0080209", "OMIM:616084", "orphanet:369861", "UMLS:C4015172", "medgen:863609"], "information_content": 100.0}
{"id": "MONDO:0957811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alport syndrome 3b, autosomal recessive", "equivalent_identifiers": ["MONDO:0957811", "OMIM:620536", "UMLS:C5882699", "medgen:1848447"], "information_content": 100.0}
{"id": "MONDO:0007587", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "external auditory canal atresia-vertical talus-hypertelorism syndrome", "equivalent_identifiers": ["MONDO:0007587", "OMIM:133705", "orphanet:3023", "UMLS:C1876181", "MESH:C566245", "medgen:361813"], "information_content": 100.0}
{"id": "HP:0002815", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the knee", "equivalent_identifiers": ["HP:0002815", "UMLS:C4025676"], "information_content": 73.2}
{"id": "MONDO:0009520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxy-3-methylglutaric aciduria", "equivalent_identifiers": ["MONDO:0009520", "DOID:0070541", "OMIM:246450", "orphanet:20", "UMLS:C0268601", "UMLS:C1533587", "MESH:C538324", "NCIT:C84523", "SNOMEDCT:124611007", "SNOMEDCT:410059004", "medgen:78692", "icd11.foundation:795785192"], "information_content": 100.0}
{"id": "HP:0410051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of 3-hydroxy-3-methylglutaric acid in urine", "equivalent_identifiers": ["HP:0410051", "UMLS:C4703617"], "information_content": 100.0}
{"id": "HP:6000216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced HMG-CoA lyase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000216", "UMLS:C5937046"], "information_content": 100.0}
{"id": "HP:0033596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 3-methylcrotonylglycine level", "equivalent_identifiers": ["HP:0033596", "UMLS:C5539708"], "information_content": 100.0}
{"id": "MONDO:0013857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alar cleft, isolated", "inheritance": "Sporadic", "equivalent_identifiers": ["MONDO:0013857", "OMIM:614687", "UMLS:C3553476", "medgen:766390"], "information_content": 100.0}
{"id": "MONDO:0014273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-thin corpus callosum-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014273", "DOID:0081205", "OMIM:615599", "orphanet:397951", "UMLS:C3810080", "medgen:816410"], "information_content": 100.0}
{"id": "MONDO:0859081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome Xq13 duplication syndrome", "equivalent_identifiers": ["MONDO:0859081", "OMIM:301069", "UMLS:C5677057", "medgen:1809227"], "information_content": 100.0}
{"id": "MONDO:0859379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 13", "equivalent_identifiers": ["MONDO:0859379", "OMIM:620244", "UMLS:C5830279", "medgen:1840915"], "information_content": 100.0}
{"id": "MONDO:0009440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosiform erythroderma, corneal involvement, and hearing loss", "equivalent_identifiers": ["MONDO:0009440", "OMIM:242150", "UMLS:C1275089", "MESH:C537363", "SNOMEDCT:403780007", "medgen:224809"], "information_content": 100.0}
{"id": "MONDO:0011914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis-lymphedema-telangiectasia syndrome", "equivalent_identifiers": ["MONDO:0011914", "DOID:0111361", "OMIM:607823", "UMLS:C1843004", "MESH:C564327", "medgen:375070"], "information_content": 100.0}
{"id": "MONDO:0013465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achromatopsia 4", "equivalent_identifiers": ["MONDO:0013465", "DOID:0110010", "OMIM:613856", "UMLS:C1841721", "MESH:C564206", "medgen:330669"], "information_content": 100.0}
{"id": "HP:0033088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Valinuria", "equivalent_identifiers": ["HP:0033088", "UMLS:C1168510", "MEDDRA:10060337"], "information_content": 100.0}
{"id": "MONDO:0014083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 7, autosomal recessive", "equivalent_identifiers": ["MONDO:0014083", "DOID:0081139", "OMIM:615214", "UMLS:C3554689", "medgen:767603"], "information_content": 100.0}
{"id": "MONDO:0100302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LADD syndrome 1", "equivalent_identifiers": ["MONDO:0100302", "OMIM:149730", "UMLS:C5774323", "medgen:1824096"], "information_content": 100.0}
{"id": "HP:0009740", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the parotid gland", "equivalent_identifiers": ["HP:0009740", "UMLS:C1400252", "UMLS:C4020779", "UMLS:C4024215", "SNOMEDCT:1144875009"], "information_content": 100.0}
{"id": "MONDO:0006044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrosclerosis", "equivalent_identifiers": ["MONDO:0006044", "DOID:11664", "EFO:1000041", "UMLS:C0027719", "MESH:D009400", "MEDDRA:10003214", "MEDDRA:10029159", "MEDDRA:10038372", "MEDDRA:10038524", "MEDDRA:10038525", "SNOMEDCT:32916005", "medgen:14330", "icd11.foundation:1878591797", "ICD10:I12", "ICD9:587", "HP:0009741"], "information_content": 100.0}
{"id": "HP:0009637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent proximal phalanx of thumb", "equivalent_identifiers": ["HP:0009637", "UMLS:C4021418", "SNOMEDCT:1144469005"], "information_content": 100.0}
{"id": "MONDO:0020738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple benign circumferential skin creases on limbs 1", "equivalent_identifiers": ["MONDO:0020738", "DOID:0112242", "OMIM:156610", "UMLS:C4551592", "medgen:1631916"], "information_content": 100.0}
{"id": "HP:0006768", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Localized neuroblastoma", "equivalent_identifiers": ["HP:0006768", "UMLS:C4024981"], "information_content": 100.0}
{"id": "MONDO:0032887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity", "equivalent_identifiers": ["MONDO:0032887", "OMIM:618730", "UMLS:C5231480", "medgen:1684695"], "information_content": 100.0}
{"id": "MONDO:0027451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cutis laxa type 2D", "equivalent_identifiers": ["MONDO:0027451", "DOID:0070129", "OMIM:617403", "UMLS:C4479409", "medgen:1376619"], "information_content": 100.0}
{"id": "MONDO:0020841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cerebellar atrophy and with or without seizures", "equivalent_identifiers": ["MONDO:0020841", "OMIM:618056", "UMLS:C4748032", "medgen:1648373"], "information_content": 100.0}
{"id": "MONDO:0010111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontotrichomelic syndrome", "equivalent_identifiers": ["MONDO:0010111", "OMIM:273400", "orphanet:2723", "UMLS:C2930960", "MESH:C535637", "SNOMEDCT:239028001", "medgen:443944", "icd11.foundation:1999951139"], "information_content": 100.0}
{"id": "MONDO:0024781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 102", "equivalent_identifiers": ["MONDO:0024781", "DOID:0061072", "OMIM:301082", "orphanet:653751", "UMLS:C5676886", "medgen:1812534"], "information_content": 100.0}
{"id": "MONDO:0008582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Witkop syndrome", "equivalent_identifiers": ["MONDO:0008582", "DOID:6678", "OMIM:189500", "orphanet:2228", "UMLS:C0406735", "MESH:C536736", "NCIT:C40553", "SNOMEDCT:400036004", "medgen:140809"], "information_content": 92.8}
{"id": "MONDO:0013853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 1B", "equivalent_identifiers": ["MONDO:0013853", "DOID:0060266", "OMIM:614678", "UMLS:C3553449", "NCIT:C190872", "medgen:766363"], "information_content": 100.0}
{"id": "MONDO:0020840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary alveolar proteinosis with hypogammaglobulinemia", "equivalent_identifiers": ["MONDO:0020840", "DOID:0061070", "OMIM:618042", "UMLS:C4747984", "medgen:1648298"], "information_content": 100.0}
{"id": "MONDO:0010314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymicrogyria, bilateral perisylvian, X-linked", "equivalent_identifiers": ["MONDO:0010314", "OMIM:300388", "SNOMEDCT:438583008"], "information_content": 100.0}
{"id": "MONDO:0007705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heinz body anemia", "equivalent_identifiers": ["MONDO:0007705", "DOID:0111363", "OMIM:140700", "UMLS:C0700299", "MESH:C563030", "MEDDRA:10002058", "MEDDRA:10002283", "medgen:148583", "HP:0005511"], "information_content": 100.0}
{"id": "MONDO:0032882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heyn-Sproul-Jackson syndrome", "equivalent_identifiers": ["MONDO:0032882", "OMIM:618724", "orphanet:658595", "UMLS:C5231475", "medgen:1684743"], "information_content": 100.0}
{"id": "MONDO:0968949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, epidermolytic", "equivalent_identifiers": ["MONDO:0968949", "DOID:0080223", "OMIM.PS:144200", "UMLS:C1721006", "MESH:D053546", "medgen:354561", "HP:0007559"], "information_content": 92.8}
{"id": "MONDO:0013353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, anterior maxillary protrusion, and strabismus", "equivalent_identifiers": ["MONDO:0013353", "OMIM:613671", "orphanet:562559", "UMLS:C3150924", "SNOMEDCT:1222706005", "medgen:462274"], "information_content": 100.0}
{"id": "MONDO:0011504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NDE1-related microhydranencephaly", "equivalent_identifiers": ["MONDO:0011504", "OMIM:605013", "orphanet:443162", "UMLS:C1857977", "MESH:C537555", "medgen:341899"], "information_content": 100.0}
{"id": "MONDO:0014746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SLC39A8-CDG", "equivalent_identifiers": ["MONDO:0014746", "DOID:0070266", "OMIM:616721", "orphanet:468699", "UMLS:C4225234", "SNOMEDCT:1187171005", "medgen:899837"], "information_content": 100.0}
{"id": "MONDO:0007711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bencze syndrome", "equivalent_identifiers": ["MONDO:0007711", "OMIM:141350", "orphanet:1241", "UMLS:C1841640", "MESH:C564199", "SNOMEDCT:733046006", "medgen:330655"], "information_content": 100.0}
{"id": "MONDO:0010537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Borjeson-Forssman-Lehmann syndrome", "equivalent_identifiers": ["MONDO:0010537", "DOID:0050681", "OMIM:301900", "orphanet:127", "UMLS:C0265339", "MESH:C536575", "NCIT:C157122", "SNOMEDCT:21634003", "medgen:78557"], "information_content": 100.0}
{"id": "HP:0008094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely spaced toes", "equivalent_identifiers": ["HP:0008094", "UMLS:C1969238"], "information_content": 100.0}
{"id": "HP:0008478", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scheuermann-like vertebral changes", "equivalent_identifiers": ["HP:0008478", "UMLS:C1844926"], "information_content": 100.0}
{"id": "HP:0008687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the prostate", "equivalent_identifiers": ["HP:0008687", "UMLS:C1844923"], "information_content": 95.4}
{"id": "MONDO:0010830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 8", "equivalent_identifiers": ["MONDO:0010830", "DOID:0110723", "OMIM:600143", "orphanet:228354", "UMLS:C1838570", "MESH:C537952", "SNOMEDCT:703526007", "medgen:374004"], "information_content": 95.4}
{"id": "MONDO:0008562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thumb deformity-alopecia-pigmentation anomaly syndrome", "equivalent_identifiers": ["MONDO:0008562", "OMIM:188150", "orphanet:2251", "UMLS:C1861168", "MESH:C566054", "SNOMEDCT:771182002", "medgen:348284"], "information_content": 100.0}
{"id": "HP:0007450", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased groin pigmentation with raindrop depigmentation", "equivalent_identifiers": ["HP:0007450", "UMLS:C4024875"], "information_content": 100.0}
{"id": "MONDO:0001056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric cancer", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0001056", "DOID:10534", "OMIM:613659", "UMLS:C0024623", "UMLS:C0153421", "UMLS:C0153422", "UMLS:C0153423", "UMLS:C3150911", "MEDDRA:10017758", "MEDDRA:10017760", "MEDDRA:10017796", "MEDDRA:10025768", "MEDDRA:10025950", "MEDDRA:10026074", "MEDDRA:10026476", "MEDDRA:10026486", "MEDDRA:10042080", "NCIT:C194067", "NCIT:C194069", "NCIT:C194070", "NCIT:C9331", "SNOMEDCT:187742008", "SNOMEDCT:269459004", "SNOMEDCT:269460009", "SNOMEDCT:363349007", "medgen:44264", "ICD10:C16", "ICD10:C16.2", "ICD10:C16.5", "ICD10:C16.6", "ICD9:151", "ICD9:151.4", "ICD9:151.5", "ICD9:151.6"], "information_content": 65.1}
{"id": "MONDO:0013479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1HH", "equivalent_identifiers": ["MONDO:0013479", "DOID:0110448", "OMIM:613881", "UMLS:C3151293", "NCIT:C192082", "medgen:462643"], "information_content": 100.0}
{"id": "MONDO:0014091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4B", "equivalent_identifiers": ["MONDO:0014091", "DOID:0070462", "OMIM:615228", "UMLS:C3808899", "medgen:815229"], "information_content": 100.0}
{"id": "MONDO:0007784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "selective pituitary resistance to thyroid hormone", "equivalent_identifiers": ["MONDO:0007784", "DOID:0111374", "OMIM:145650", "UMLS:C1840364", "MESH:C564154", "SNOMEDCT:1260241001", "medgen:333543", "icd11.foundation:482664523"], "information_content": 100.0}
{"id": "MONDO:0011177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 4, hair/nail type", "equivalent_identifiers": ["MONDO:0011177", "DOID:0111658", "OMIM:602032", "UMLS:C4024880", "MESH:C566592", "medgen:870434"], "information_content": 100.0}
{"id": "HP:0008394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital onychodystrophy", "equivalent_identifiers": ["HP:0008394", "UMLS:C1393669", "UMLS:C4280413"], "information_content": 100.0}
{"id": "HP:0004524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporal hypotrichosis", "equivalent_identifiers": ["HP:0004524", "UMLS:C4025316"], "information_content": 100.0}
{"id": "MONDO:0013836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial steroid-resistant nephrotic syndrome with sensorineural deafness", "equivalent_identifiers": ["MONDO:0013836", "DOID:0070243", "OMIM:614650", "orphanet:280406", "UMLS:C3553349", "medgen:766263"], "information_content": 100.0}
{"id": "MONDO:0010906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 11", "equivalent_identifiers": ["MONDO:0010906", "DOID:0080404", "OMIM:600625", "UMLS:C1833563", "UMLS:C2677434", "MESH:C563468", "MESH:C567410", "medgen:436944"], "information_content": 100.0}
{"id": "MONDO:0030302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 81", "equivalent_identifiers": ["MONDO:0030302", "DOID:0061052", "OMIM:619374", "UMLS:C5543540", "medgen:1788669"], "information_content": 100.0}
{"id": "MONDO:0010910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enuresis, nocturnal, 1", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0010910", "OMIM:600631"], "information_content": 100.0}
{"id": "MONDO:0012487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia-intellectual disability syndrome 2", "equivalent_identifiers": ["MONDO:0012487", "DOID:0080629", "OMIM:610422", "UMLS:C1835852", "MESH:C563668", "medgen:372142"], "information_content": 100.0}
{"id": "MONDO:0011653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid cancer, nonmedullary, 3", "equivalent_identifiers": ["MONDO:0011653", "OMIM:606240", "UMLS:C4225410", "medgen:903332"], "information_content": 100.0}
{"id": "MONDO:0014475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 40", "equivalent_identifiers": ["MONDO:0014475", "DOID:0050986", "OMIM:616053", "orphanet:423275", "EFO:0009057", "UMLS:C4518336", "SNOMEDCT:734020000", "medgen:1385103"], "information_content": 100.0}
{"id": "MONDO:0025712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioedema, hereditary, 4", "equivalent_identifiers": ["MONDO:0025712", "OMIM:619360", "UMLS:C5543503", "medgen:1787336"], "information_content": 100.0}
{"id": "MONDO:0008502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfhemoglobinemia, congenital", "equivalent_identifiers": ["MONDO:0008502", "OMIM:185460", "UMLS:C1861437", "MESH:C566102", "medgen:350024"], "information_content": 100.0}
{"id": "MONDO:0859167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemic tubulopathy and deafness", "equivalent_identifiers": ["MONDO:0859167", "OMIM:619406", "UMLS:C5543621", "medgen:1785163"], "information_content": 100.0}
{"id": "MONDO:0032878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia", "equivalent_identifiers": ["MONDO:0032878", "OMIM:618718", "EFO:0010658", "UMLS:C5231471", "medgen:1684663"], "information_content": 100.0}
{"id": "MONDO:0020727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 22", "equivalent_identifiers": ["MONDO:0020727", "DOID:0111498", "OMIM:616045", "UMLS:C4015062", "medgen:863499"], "information_content": 100.0}
{"id": "MONDO:0859163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Faundes-Banka syndrome", "equivalent_identifiers": ["MONDO:0859163", "OMIM:619376", "UMLS:C5543554", "medgen:1782083"], "information_content": 100.0}
{"id": "MONDO:0011101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 1B", "equivalent_identifiers": ["MONDO:0011101", "DOID:0050444", "DOID:0081240", "OMIM:601539", "UMLS:C0282527", "UMLS:C4723746", "MESH:D052919", "NCIT:C155749", "NCIT:C84789", "SNOMEDCT:238062008", "medgen:79470", "ICD10:G60.1"], "information_content": 100.0}
{"id": "MONDO:0012208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital reticular ichthyosiform erythroderma", "equivalent_identifiers": ["MONDO:0012208", "OMIM:609165", "orphanet:281190", "UMLS:C1836681", "UMLS:C3665704", "MESH:C563781", "SNOMEDCT:703504006", "medgen:777141", "icd11.foundation:565254051"], "information_content": 100.0}
{"id": "MONDO:0010907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypertryptophanemia", "equivalent_identifiers": ["MONDO:0010907", "DOID:0111703", "OMIM:600627", "orphanet:2224", "UMLS:C2931837", "MESH:C538393", "MESH:C563467", "SNOMEDCT:721838005", "medgen:419177"], "information_content": 100.0}
{"id": "HP:0500134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertryptophanemia", "equivalent_identifiers": ["HP:0500134", "UMLS:C4521096"], "information_content": 100.0}
{"id": "MONDO:0013838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenzyme Q10 deficiency, primary, 3", "equivalent_identifiers": ["MONDO:0013838", "DOID:0070240", "OMIM:614652", "UMLS:C3553358", "medgen:766272"], "information_content": 100.0}
{"id": "MONDO:0011510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bohring-Opitz syndrome", "equivalent_identifiers": ["MONDO:0011510", "OMIM:605039", "orphanet:97297", "UMLS:C0796232", "MESH:C537419", "NCIT:C131533", "SNOMEDCT:720565000", "medgen:208678"], "information_content": 100.0}
{"id": "HP:0011401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed peripheral myelination", "equivalent_identifiers": ["HP:0011401", "UMLS:C4023374"], "information_content": 100.0}
{"id": "HP:0000587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal optic nerve morphology", "equivalent_identifiers": ["HP:0000587", "UMLS:C0029131"], "information_content": 70.5}
{"id": "MONDO:0010014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniometadiaphyseal dysplasia, wormian bone type", "equivalent_identifiers": ["MONDO:0010014", "OMIM:269300", "orphanet:85184", "UMLS:C4510809", "SNOMEDCT:278833002", "SNOMEDCT:725099009", "medgen:1382152", "icd11.foundation:1055011248"], "information_content": 100.0}
{"id": "MONDO:0013590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome, type 4", "equivalent_identifiers": ["MONDO:0013590", "OMIM:614134", "UMLS:C3279941", "medgen:481571"], "information_content": 100.0}
{"id": "MONDO:0014748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014748", "OMIM:616723", "orphanet:457395", "UMLS:C5568882", "SNOMEDCT:1187303004", "medgen:1800305"], "information_content": 100.0}
{"id": "MONDO:0859529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis 27, juvenile", "equivalent_identifiers": ["MONDO:0859529", "DOID:0081381", "OMIM:620285", "UMLS:C5830359", "medgen:1840995"], "information_content": 100.0}
{"id": "MONDO:0700077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitiligo-associated multiple autoimmune disease susceptibility 6", "equivalent_identifiers": ["MONDO:0700077", "OMIM:193200", "UMLS:C3277701", "medgen:479331"], "information_content": 100.0}
{"id": "MONDO:0010833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0010833", "OMIM:600155", "UMLS:C1838564", "medgen:374002"], "information_content": 100.0}
{"id": "MONDO:0014757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome", "equivalent_identifiers": ["MONDO:0014757", "OMIM:616737", "orphanet:487796", "UMLS:C4225222", "SNOMEDCT:1172685001", "medgen:906646"], "information_content": 100.0}
{"id": "MONDO:0007295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "self-limited epilepsy with centrotemporal spikes", "equivalent_identifiers": ["MONDO:0007295", "DOID:3329", "OMIM:117100", "orphanet:1945", "UMLS:C0376532", "UMLS:C2363129", "MESH:D019305", "MEDDRA:10070530", "NCIT:C116538", "SNOMEDCT:44145005", "medgen:138210", "icd11.foundation:1046279423"], "information_content": 100.0}
{"id": "HP:0012557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with centrotemporal focal spike waves", "equivalent_identifiers": ["HP:0012557", "UMLS:C4022848"], "information_content": 100.0}
{"id": "MONDO:0012931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 4, susceptibility to", "equivalent_identifiers": ["MONDO:0012931", "OMIM:612551", "UMLS:C2675525", "medgen:390820"], "information_content": 100.0}
{"id": "MONDO:0009871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pili torti-developmental delay-neurological abnormalities syndrome", "equivalent_identifiers": ["MONDO:0009871", "OMIM:261990", "orphanet:2891", "UMLS:C1849811", "MESH:C537398", "medgen:342358"], "information_content": 100.0}
{"id": "MONDO:0013585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrolethalus syndrome 2", "equivalent_identifiers": ["MONDO:0013585", "DOID:0111356", "OMIM:614120", "UMLS:C3279899", "medgen:481529"], "information_content": 100.0}
{"id": "MONDO:0007226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-nystagmus-cerebellar ataxia syndrome", "equivalent_identifiers": ["MONDO:0007226", "OMIM:113400", "orphanet:1246", "UMLS:C0344467", "UMLS:C1862099", "MESH:C566192", "SNOMEDCT:205828009", "medgen:350589"], "information_content": 100.0}
{"id": "MONDO:0012825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extraskeletal myxoid chondrosarcoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0012825", "DOID:4549", "OMIM:612237", "orphanet:209916", "UMLS:C1275278", "MESH:C563195", "MEDDRA:10015838", "MEDDRA:10015839", "MEDDRA:10015842", "MEDDRA:10015846", "MEDDRA:10073134", "NCIT:C27502", "SNOMEDCT:404079008", "medgen:220892"], "information_content": 81.3}
{"id": "MONDO:0014252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypobetalipoproteinemia 1", "equivalent_identifiers": ["MONDO:0014252", "DOID:0111062", "OMIM:615558", "UMLS:C1862596", "UMLS:C4551990", "UMLS:C4760580", "MESH:C566267", "SNOMEDCT:60193003", "medgen:1639219"], "information_content": 100.0}
{"id": "MONDO:0014473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 13, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014473", "DOID:0070283", "OMIM:616051", "UMLS:C4015080", "medgen:863517"], "information_content": 100.0}
{"id": "MONDO:0030294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 3", "equivalent_identifiers": ["MONDO:0030294", "OMIM:619362", "UMLS:C5543513", "medgen:1780019"], "information_content": 100.0}
{"id": "MONDO:0011654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism", "equivalent_identifiers": ["MONDO:0011654", "OMIM:606242", "UMLS:C1853480", "MESH:C565246", "medgen:342889"], "information_content": 100.0}
{"id": "MONDO:0012486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preauricular tag, isolated, autosomal dominant, 1", "equivalent_identifiers": ["MONDO:0012486", "OMIM:610420", "UMLS:C1968893", "MESH:C566904", "medgen:369878"], "information_content": 100.0}
{"id": "MONDO:0013135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis 5", "equivalent_identifiers": ["MONDO:0013135", "DOID:0110925", "OMIM:613101", "UMLS:C2751293", "MESH:C567752", "NCIT:C203464", "medgen:416514"], "information_content": 92.8}
{"id": "HP:0008573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-frequency sensorineural hearing impairment", "equivalent_identifiers": ["HP:0008573", "UMLS:C3810445", "MEDDRA:10077500", "SNOMEDCT:1268466004"], "information_content": 100.0}
{"id": "MONDO:0859083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "systemic lupus erythematosus 17", "equivalent_identifiers": ["MONDO:0859083", "OMIM:301080", "UMLS:C5676884", "medgen:1804329"], "information_content": 100.0}
{"id": "MONDO:0002565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelitis", "equivalent_identifiers": ["MONDO:0002565", "DOID:322", "EFO:1001472", "UMLS:C0026975", "MESH:D009187", "MEDDRA:10028524", "MEDDRA:10028526", "NCIT:C26832", "SNOMEDCT:41370002", "medgen:10230", "icd11.foundation:1993728609", "HP:0012486"], "information_content": 83.1}
{"id": "MONDO:0005885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic neuritis", "equivalent_identifiers": ["MONDO:0005885", "DOID:1210", "EFO:0007405", "UMLS:C0029134", "MESH:D009902", "MEDDRA:10029247", "MEDDRA:10030942", "MEDDRA:10030944", "MEDDRA:10030946", "NCIT:C84950", "SNOMEDCT:66760008", "medgen:18181", "icd11.foundation:210935787", "ICD10:H46", "ICD9:377.3", "HP:0100653"], "information_content": 86.3}
{"id": "HP:0033342", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-aquaporin 4 antibody positivity", "equivalent_identifiers": ["HP:0033342", "UMLS:C5539529"], "information_content": 100.0}
{"id": "MONDO:0014483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies", "equivalent_identifiers": ["MONDO:0014483", "OMIM:616079", "orphanet:397758", "UMLS:C4015146", "NCIT:C168587", "medgen:863583"], "information_content": 100.0}
{"id": "OMIM:607174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["OMIM:607174", "UMLS:C3551915"]}
{"id": "MONDO:0008071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant progressive nephropathy with hypertension", "equivalent_identifiers": ["MONDO:0008071", "OMIM:161900", "orphanet:88659", "UMLS:C0403443", "UMLS:C3839782", "MESH:C562889", "SNOMEDCT:236419006", "SNOMEDCT:703310005", "medgen:98012", "icd11.foundation:1997246041"], "information_content": 100.0}
{"id": "MONDO:0007635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frasier syndrome", "equivalent_identifiers": ["MONDO:0007635", "DOID:0050438", "OMIM:136680", "orphanet:347", "UMLS:C0950122", "MESH:D052159", "MEDDRA:10080313", "NCIT:C122805", "SNOMEDCT:445431000", "medgen:215533", "icd11.foundation:1659542949"], "information_content": 100.0}
{"id": "MONDO:0032889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poirier-Bienvenu neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0032889", "OMIM:618732", "orphanet:689397", "UMLS:C5231482", "MEDDRA:10088424", "MEDDRA:10088426", "medgen:1684718"], "information_content": 100.0}
{"id": "MONDO:0009085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-vitiligo-achalasia syndrome", "equivalent_identifiers": ["MONDO:0009085", "OMIM:221350", "orphanet:3239", "UMLS:C1857339", "MESH:C565642", "medgen:347427"], "information_content": 100.0}
{"id": "MONDO:0013355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia type 4", "equivalent_identifiers": ["MONDO:0013355", "DOID:0111400", "OMIM:613673", "orphanet:293825", "UMLS:C3150926", "NCIT:C157148", "SNOMEDCT:719453009", "medgen:462276"], "information_content": 100.0}
{"id": "HP:0033281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Circulating nucleated red blood cells", "equivalent_identifiers": ["HP:0033281", "UMLS:C5539477"], "information_content": 100.0}
{"id": "MONDO:0011026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 4A", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0011026", "DOID:0060712", "OMIM:601277", "UMLS:C1832550", "MESH:C537264", "medgen:371355"], "information_content": 95.4}
{"id": "MONDO:0007361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C1 inhibitor deficiency", "equivalent_identifiers": ["MONDO:0007361", "DOID:0060002", "OMIM:120790", "UMLS:C1852700", "MESH:C565168", "medgen:343867"], "information_content": 100.0}
{"id": "MONDO:0859085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked", "equivalent_identifiers": ["MONDO:0859085", "OMIM:301094", "UMLS:C5774179", "medgen:1823953"], "information_content": 100.0}
{"id": "MONDO:0013142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory and autonomic, type 2B", "equivalent_identifiers": ["MONDO:0013142", "DOID:0070150", "OMIM:613115", "UMLS:C2751092", "MESH:C567738", "SNOMEDCT:860810005", "medgen:413474"], "information_content": 100.0}
{"id": "MONDO:0013920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes simplex encephalitis, susceptibility to, 3", "equivalent_identifiers": ["MONDO:0013920", "DOID:0061101", "OMIM:614849", "UMLS:C3553868", "medgen:766782"], "information_content": 100.0}
{"id": "MONDO:0008869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 1", "equivalent_identifiers": ["MONDO:0008869", "DOID:0070007", "OMIM:210600", "UMLS:C4551474", "MESH:C537533", "medgen:1637056"], "information_content": 100.0}
{"id": "HP:0007048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large basal ganglia", "equivalent_identifiers": ["HP:0007048", "UMLS:C1859470"], "information_content": 95.4}
{"id": "MONDO:0013859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 38", "equivalent_identifiers": ["MONDO:0013859", "DOID:0110245", "OMIM:614691", "UMLS:C3553494", "medgen:766408"], "information_content": 100.0}
{"id": "MONDO:0957809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 10, autosomal recessive", "equivalent_identifiers": ["MONDO:0957809", "OMIM:620534", "UMLS:C5882756", "medgen:1851433"], "information_content": 100.0}
{"id": "HP:0033150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anorectal abscess", "equivalent_identifiers": ["HP:0033150", "UMLS:C0267567", "MEDDRA:10000270", "MEDDRA:10002642", "SNOMEDCT:75236001"], "information_content": 100.0}
{"id": "HP:0012136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic granulopoesis", "equivalent_identifiers": ["HP:0012136", "UMLS:C4023030"], "information_content": 100.0}
{"id": "MONDO:0030058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 77", "equivalent_identifiers": ["MONDO:0030058", "DOID:0112168", "OMIM:618915", "UMLS:C5394499", "medgen:1709284"], "information_content": 100.0}
{"id": "MONDO:0014838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 5", "equivalent_identifiers": ["MONDO:0014838", "DOID:0112368", "OMIM:616938", "UMLS:C4310788", "medgen:934755"], "information_content": 100.0}
{"id": "MONDO:0008958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klippel-Feil syndrome 2, autosomal recessive", "equivalent_identifiers": ["MONDO:0008958", "DOID:0080590", "OMIM:214300", "UMLS:C1859209", "MESH:C536888", "medgen:395201"], "information_content": 100.0}
{"id": "MONDO:0009800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blount disease, adolescent", "equivalent_identifiers": ["MONDO:0009800", "OMIM:259200", "UMLS:C3151572", "medgen:462922"], "information_content": 100.0}
{"id": "MONDO:0013463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 6", "equivalent_identifiers": ["MONDO:0013463", "DOID:0060772", "OMIM:613854", "UMLS:C3151221", "medgen:462571"], "information_content": 100.0}
{"id": "MONDO:0007478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Kenny-Caffey syndrome", "equivalent_identifiers": ["MONDO:0007478", "DOID:0080723", "OMIM:127000", "orphanet:93325", "UMLS:C4316787", "NCIT:C130993", "medgen:1373312"], "information_content": 100.0}
{"id": "HP:0100253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the medullary cavity of the long bones", "equivalent_identifiers": ["HP:0100253", "UMLS:C4021027"], "information_content": 87.2}
{"id": "HP:0008285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient hypophosphatemia", "equivalent_identifiers": ["HP:0008285", "UMLS:C4024709"], "information_content": 100.0}
{"id": "MONDO:0030049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,xx sex reversal 5", "equivalent_identifiers": ["MONDO:0030049", "DOID:0080943", "OMIM:618901", "UMLS:C5394441", "medgen:1713956"], "information_content": 100.0}
{"id": "MONDO:0011912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 37", "equivalent_identifiers": ["MONDO:0011912", "DOID:0110495", "OMIM:607821", "UMLS:C1843028", "MESH:C564331", "medgen:375076"], "information_content": 100.0}
{"id": "MONDO:0859514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 18", "equivalent_identifiers": ["MONDO:0859514", "DOID:0081350", "OMIM:620246", "UMLS:C5830283", "medgen:1840919"], "information_content": 100.0}
{"id": "MONDO:0010691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Norrie disease", "equivalent_identifiers": ["MONDO:0010691", "DOID:0060844", "OMIM:310600", "orphanet:649", "UMLS:C0266526", "MESH:C537849", "MEDDRA:10069760", "NCIT:C118634", "SNOMEDCT:15228007", "medgen:75615", "icd11.foundation:676214590"], "information_content": 100.0}
{"id": "MONDO:0007660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial ossifying fibroma", "equivalent_identifiers": ["MONDO:0007660", "OMIM:137575", "orphanet:435329", "UMLS:C3495361", "MESH:C563017", "MEDDRA:10081225", "NCIT:C202219", "medgen:501159"], "information_content": 100.0}
{"id": "HP:0012328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cementoma", "equivalent_identifiers": ["HP:0012328", "NCIT:C4308", "UMLS:C0007659", "MEDDRA:10062564", "SNOMEDCT:23255001", "SNOMEDCT:37258009", "MESH:D002485"], "information_content": 100.0}
{"id": "MONDO:0010748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torticollis-keloids-cryptorchidism-renal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0010748", "OMIM:314300", "orphanet:3341", "UMLS:C1839129", "MESH:C536970", "medgen:326819"], "information_content": 100.0}
{"id": "HP:0008717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral renal atrophy", "equivalent_identifiers": ["HP:0008717", "UMLS:C1827184", "SNOMEDCT:424998002"], "information_content": 100.0}
{"id": "MONDO:0007908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple symmetric lipomatosis", "equivalent_identifiers": ["MONDO:0007908", "DOID:14116", "OMIM:151800", "orphanet:2398", "EFO:1000737", "UMLS:C0023804", "UMLS:C0028253", "MESH:D008069", "MEDDRA:10084240", "MEDDRA:10084242", "NCIT:C4392", "SNOMEDCT:238902007", "SNOMEDCT:65245004", "medgen:7349"], "information_content": 100.0}
{"id": "MONDO:0020628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, growth restriction, and increased sister chromatid exchange 2", "equivalent_identifiers": ["MONDO:0020628", "OMIM:618097", "UMLS:C4748176", "medgen:1648384"], "information_content": 100.0}
{"id": "HP:0010998", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased susceptibility to spontaneous sister chromatid exchange", "equivalent_identifiers": ["HP:0010998", "UMLS:C4023604"], "information_content": 100.0}
{"id": "MONDO:0030312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 29", "equivalent_identifiers": ["MONDO:0030312", "DOID:0070410", "OMIM:619389", "UMLS:C5543595", "medgen:1788435"], "information_content": 100.0}
{"id": "HP:0012678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iron accumulation in substantia nigra", "equivalent_identifiers": ["HP:0012678", "UMLS:C4022785"], "information_content": 100.0}
{"id": "MONDO:0026763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 13, X-linked", "equivalent_identifiers": ["MONDO:0026763", "DOID:0060954", "OMIM:301043", "UMLS:C5393308", "medgen:1714826"], "information_content": 100.0}
{"id": "MONDO:0010703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ornithine carbamoyltransferase deficiency", "equivalent_identifiers": ["MONDO:0010703", "DOID:9271", "OMIM:311250", "orphanet:664", "EFO:0007409", "UMLS:C0268542", "MESH:D020163", "MEDDRA:10052450", "MEDDRA:10052513", "MEDDRA:10071107", "NCIT:C84957", "SNOMEDCT:80908008", "medgen:75692", "icd11.foundation:1822444026", "ICD10:E72.4"], "information_content": 100.0}
{"id": "HP:6000334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic ornithine transcarbamylase activity", "equivalent_identifiers": ["HP:6000334", "UMLS:C5937130"], "information_content": 100.0}
{"id": "MONDO:0009198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital lethal erythroderma", "equivalent_identifiers": ["MONDO:0009198", "OMIM:227090", "orphanet:1954", "UMLS:C1856898", "MESH:C535513", "SNOMEDCT:722391005", "medgen:384008"], "information_content": 100.0}
{"id": "HP:0007381", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital exfoliative erythroderma", "equivalent_identifiers": ["HP:0007381", "UMLS:C4024892"], "information_content": 100.0}
{"id": "MONDO:0030065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome", "equivalent_identifiers": ["MONDO:0030065", "DOID:0080948", "OMIM:618929", "UMLS:C5394523", "medgen:1718475"], "information_content": 100.0}
{"id": "HP:0033105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interhypothalamic adhesion", "equivalent_identifiers": ["HP:0033105", "UMLS:C5394529"], "information_content": 100.0}
{"id": "MONDO:0700342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monilethrix-3", "equivalent_identifiers": ["MONDO:0700342", "OMIM:621170"], "information_content": 100.0}
{"id": "MONDO:0008009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monilethrix", "equivalent_identifiers": ["MONDO:0008009", "DOID:0050472", "OMIM.PS:158000", "orphanet:573", "UMLS:C0546966", "MESH:D056734", "NCIT:C84894", "SNOMEDCT:69488000", "medgen:108185", "icd11.foundation:415074833", "ICD10:Q84.1", "HP:0032470"], "information_content": 90.9}
{"id": "MONDO:0014828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 3", "equivalent_identifiers": ["MONDO:0014828", "DOID:0090010", "OMIM:616910", "UMLS:C4310799", "medgen:934766"], "information_content": 100.0}
{"id": "MONDO:0013929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 98", "equivalent_identifiers": ["MONDO:0013929", "DOID:0110540", "OMIM:614861", "UMLS:C3553932", "medgen:766846"], "information_content": 100.0}
{"id": "MONDO:0014678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 39", "equivalent_identifiers": ["MONDO:0014678", "DOID:0070069", "OMIM:616521", "UMLS:C4225296", "UMLS:C4225432", "UMLS:C4225433", "NCIT:C156309", "medgen:909304"], "information_content": 100.0}
{"id": "HP:0011015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood glucose concentration", "equivalent_identifiers": ["HP:0011015", "UMLS:C4023597"], "information_content": 78.3}
{"id": "MONDO:0010872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parotid salivary glands, polycystic dysgenetic disease of", "equivalent_identifiers": ["MONDO:0010872", "OMIM:600343", "UMLS:C3551133", "medgen:764047"], "information_content": 100.0}
{"id": "MONDO:0014014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive", "equivalent_identifiers": ["MONDO:0014014", "OMIM:615028", "orphanet:412189", "UMLS:C3554367", "medgen:767281"], "information_content": 100.0}
{"id": "MONDO:0011249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia with onset in infancy", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0011249", "DOID:0090058", "OMIM:602554", "UMLS:C1865205", "MESH:C536969", "medgen:400706"], "information_content": 100.0}
{"id": "DOID:5585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ferguson-Smith tumor", "equivalent_identifiers": ["DOID:5585", "OMIM:132800", "UMLS:C0345982", "UMLS:C0546476", "UMLS:C4083047", "MESH:C536150", "NCIT:C4461", "SNOMEDCT:254659009"], "information_content": 100.0}
{"id": "MONDO:0014447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 19", "equivalent_identifiers": ["MONDO:0014447", "DOID:0110141", "OMIM:615996", "UMLS:C3889475", "medgen:855173"], "information_content": 100.0}
{"id": "MONDO:0013757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital nongoitrous hypothyroidism 6", "equivalent_identifiers": ["MONDO:0013757", "DOID:0070128", "OMIM:614450", "UMLS:C3280817", "medgen:482447"], "information_content": 100.0}
{"id": "HP:0031418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased body mass index", "equivalent_identifiers": ["HP:0031418", "UMLS:C0231254", "MEDDRA:10005896", "MEDDRA:10005897", "SNOMEDCT:48499001"], "information_content": 100.0}
{"id": "MONDO:0014946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sifrim-Hitz-Weiss syndrome", "equivalent_identifiers": ["MONDO:0014946", "DOID:0070529", "OMIM:617159", "orphanet:653712", "UMLS:C4310688", "NCIT:C201595", "SNOMEDCT:1332510002", "medgen:934655"], "information_content": 100.0}
{"id": "MONDO:0012684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 12", "equivalent_identifiers": ["MONDO:0012684", "DOID:0110083", "OMIM:611528", "UMLS:C1969081", "MESH:C566925", "medgen:409749"], "information_content": 100.0}
{"id": "MONDO:0011628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "propionic acidemia", "equivalent_identifiers": ["MONDO:0011628", "DOID:14701", "OMIM:606054", "orphanet:35", "UMLS:C0268579", "UMLS:C2717876", "MESH:D056693", "MEDDRA:10080607", "MEDDRA:10080611", "MEDDRA:10080615", "MEDDRA:10080616", "NCIT:C85030", "SNOMEDCT:69080001", "medgen:75694", "ICD10:E71.121", "HP:0003571"], "information_content": 100.0}
{"id": "HP:0003353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Propionyl-CoA carboxylase deficiency", "equivalent_identifiers": ["HP:0003353", "UMLS:C4551877", "SNOMEDCT:124718009"], "information_content": 100.0}
{"id": "MONDO:0030905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 117", "equivalent_identifiers": ["MONDO:0030905", "OMIM:619174", "UMLS:C5436937", "medgen:1747842"], "information_content": 100.0}
{"id": "MONDO:0014548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 14", "equivalent_identifiers": ["MONDO:0014548", "DOID:0110655", "OMIM:616247", "UMLS:C4015671", "NCIT:C177534", "medgen:864108"], "information_content": 100.0}
{"id": "MONDO:0011564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 8", "equivalent_identifiers": ["MONDO:0011564", "DOID:0111014", "OMIM:605549", "UMLS:C1854180", "MESH:C565322", "medgen:381360"], "information_content": 100.0}
{"id": "MONDO:0014433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 4", "equivalent_identifiers": ["MONDO:0014433", "DOID:0110126", "OMIM:615982", "EFO:0009024", "UMLS:C2936864", "MESH:C537912", "medgen:423627"], "information_content": 100.0}
{"id": "MONDO:0013687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 12", "equivalent_identifiers": ["MONDO:0013687", "DOID:0080060", "OMIM:614322", "orphanet:284282", "UMLS:C3280452", "SNOMEDCT:770898002", "medgen:482082"], "information_content": 100.0}
{"id": "MONDO:0011399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha thalassemia spectrum", "equivalent_identifiers": ["MONDO:0011399", "DOID:1099", "OMIM:604131", "orphanet:846", "UMLS:C0002312", "MESH:D017085", "MEDDRA:10001802", "MEDDRA:10001817", "MEDDRA:10043390", "MEDDRA:10054659", "NCIT:C34368", "SNOMEDCT:68913001", "medgen:1434", "icd11.foundation:531667506", "ICD9:282.43"], "information_content": 86.3}
{"id": "MONDO:0011245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HID Syndrome", "equivalent_identifiers": ["MONDO:0011245", "OMIM:602540", "UMLS:C1865234", "MESH:C566528", "medgen:355410"], "information_content": 100.0}
{"id": "MONDO:0030473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 99", "equivalent_identifiers": ["MONDO:0030473", "DOID:0070385", "OMIM:619606", "UMLS:C5562018", "medgen:1794228"], "information_content": 100.0}
{"id": "MONDO:0014682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid cancer, nonmedullary, 5", "equivalent_identifiers": ["MONDO:0014682", "OMIM:616535", "UMLS:C4225292", "medgen:895900"], "information_content": 100.0}
{"id": "MONDO:0008390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rombo syndrome", "equivalent_identifiers": ["MONDO:0008390", "OMIM:180730", "orphanet:3110", "UMLS:C1867147", "MESH:C535870", "SNOMEDCT:721904001", "medgen:356704"], "information_content": 100.0}
{"id": "MONDO:0009994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alveolar rhabdomyosarcoma", "equivalent_identifiers": ["MONDO:0009994", "DOID:4051", "OMIM:268220", "orphanet:99756", "EFO:0000248", "UMLS:C0206655", "UMLS:C0279613", "MESH:D018232", "MEDDRA:10065867", "NCIT:C3749", "NCIT:C7958", "SNOMEDCT:404053004", "SNOMEDCT:63449009", "medgen:61651", "icd11.foundation:1742058067", "HP:0006779"], "information_content": 81.3}
{"id": "MONDO:0020692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis 1, autosomal recessive", "equivalent_identifiers": ["MONDO:0020692", "DOID:0112365", "OMIM:277300"], "information_content": 100.0}
{"id": "HP:6000652", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rib spur", "equivalent_identifiers": ["HP:6000652", "UMLS:C5937400"], "information_content": 100.0}
{"id": "MONDO:0009159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, cardiac valvular type", "equivalent_identifiers": ["MONDO:0009159", "DOID:0080730", "OMIM:225320", "orphanet:230851", "UMLS:C1857034", "UMLS:C4303789", "MESH:C536200", "SNOMEDCT:720858001", "medgen:929458", "icd11.foundation:531375176"], "information_content": 100.0}
{"id": "MONDO:0010885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiokeratoma corporis diffusum with arteriovenous fistulas", "equivalent_identifiers": ["MONDO:0010885", "OMIM:600419", "UMLS:C1838141", "MESH:C563940", "medgen:324953"], "information_content": 100.0}
{"id": "MONDO:0011630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 28", "equivalent_identifiers": ["MONDO:0011630", "DOID:0110365", "OMIM:606068", "UMLS:C1419614", "medgen:244030"], "information_content": 100.0}
{"id": "MONDO:0011134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curry-Jones syndrome", "equivalent_identifiers": ["MONDO:0011134", "OMIM:601707", "orphanet:1553", "UMLS:C0795915", "MESH:C536735", "SNOMEDCT:720819006", "medgen:167083"], "information_content": 100.0}
{"id": "HP:0025770", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-3 finger osseus syndactyly", "equivalent_identifiers": ["HP:0025770", "UMLS:C5970242"], "information_content": 100.0}
{"id": "MONDO:0030896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 13q33-q34 deletion syndrome", "equivalent_identifiers": ["MONDO:0030896", "OMIM:619148", "UMLS:C5436890", "medgen:1744234"], "information_content": 100.0}
{"id": "MONDO:0017285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "penoscrotal transposition", "equivalent_identifiers": ["MONDO:0017285", "orphanet:2842", "UMLS:C1868854", "MESH:C536650", "MEDDRA:10067287", "NCIT:C99010", "SNOMEDCT:312005008", "medgen:357036", "icd11.foundation:1417779551", "HP:0100600"], "information_content": 100.0}
{"id": "MONDO:0010026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SHORT syndrome", "equivalent_identifiers": ["MONDO:0010026", "DOID:0111454", "OMIM:269880", "orphanet:3163", "UMLS:C0878684", "MESH:C537327", "MEDDRA:10090250", "medgen:164212", "icd11.foundation:1264512044"], "information_content": 100.0}
{"id": "MONDO:0014952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-epilepsy-extrapyramidal syndrome", "equivalent_identifiers": ["MONDO:0014952", "OMIM:617171", "orphanet:468620", "UMLS:C4310683", "medgen:934650"], "information_content": 100.0}
{"id": "MONDO:0032625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 21", "equivalent_identifiers": ["MONDO:0032625", "DOID:0112088", "OMIM:618242", "UMLS:C4748792", "medgen:1648383"], "information_content": 100.0}
{"id": "MONDO:0009327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart, malformation of", "equivalent_identifiers": ["MONDO:0009327", "OMIM:140500", "OMIM:234750"], "information_content": 100.0}
{"id": "MONDO:0024527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomerulopathy with fibronectin deposits 1", "equivalent_identifiers": ["MONDO:0024527", "OMIM:137950", "UMLS:C0403557", "medgen:98017"], "information_content": 100.0}
{"id": "MONDO:0011957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal macular dystrophy type 2", "equivalent_identifiers": ["MONDO:0011957", "DOID:0070517", "OMIM:608051", "orphanet:319640", "UMLS:C4749334", "MESH:C562746", "SNOMEDCT:770594005", "medgen:1666864"], "information_content": 100.0}
{"id": "MONDO:0014673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 44", "equivalent_identifiers": ["MONDO:0014673", "DOID:0110267", "OMIM:616509", "UMLS:C4225300", "medgen:907487"], "information_content": 100.0}
{"id": "MONDO:0010988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aplasia cutis-myopia syndrome", "equivalent_identifiers": ["MONDO:0010988", "OMIM:601075", "orphanet:1117", "UMLS:C1832826", "UMLS:C4304032", "MESH:C563394", "SNOMEDCT:720499004", "medgen:331375"], "information_content": 100.0}
{"id": "HP:0007536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia cutis congenita of midline scalp vertex", "equivalent_identifiers": ["HP:0007536", "UMLS:C4024849"], "information_content": 100.0}
{"id": "MONDO:0032797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, congenital, with tremor", "equivalent_identifiers": ["MONDO:0032797", "DOID:0081348", "OMIM:618524", "UMLS:C5231401", "medgen:1684886"], "information_content": 100.0}
{"id": "HP:0031947", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue tremor", "equivalent_identifiers": ["HP:0031947", "UMLS:C0241446", "UMLS:C4732770", "MEDDRA:10043990", "SNOMEDCT:835278006"], "information_content": 100.0}
{"id": "MONDO:0013276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reynolds syndrome", "equivalent_identifiers": ["MONDO:0013276", "OMIM:613471", "orphanet:779", "UMLS:C0748397", "MEDDRA:10070953", "SNOMEDCT:715401008", "medgen:450547", "icd11.foundation:1409844299"], "information_content": 100.0}
{"id": "HP:0030873", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-centromere antibody positivity", "equivalent_identifiers": ["HP:0030873", "UMLS:C4280732"], "information_content": 100.0}
{"id": "MONDO:0011362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, myofibrillar, 9, with early respiratory failure", "equivalent_identifiers": ["MONDO:0011362", "DOID:0111188", "OMIM:603689", "orphanet:178464", "EFO:0010828", "UMLS:C1863599", "MESH:C564377", "MESH:C566343", "SNOMEDCT:702373006", "medgen:350930"], "information_content": 100.0}
{"id": "MONDO:0012434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 10", "equivalent_identifiers": ["MONDO:0012434", "DOID:0110081", "OMIM:610193", "UMLS:C1857777", "MESH:C565707", "NCIT:C177248", "medgen:347543"], "information_content": 100.0}
{"id": "MONDO:0007666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma-sleep apnea syndrome", "equivalent_identifiers": ["MONDO:0007666", "OMIM:137763", "orphanet:2085", "UMLS:C1842025", "MESH:C564232", "medgen:330749"], "information_content": 100.0}
{"id": "OMIM:274190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thumb Agenesis, Short Stature, And Immunodeficiency", "equivalent_identifiers": ["OMIM:274190", "UMLS:C1848818", "MESH:C564770"]}
{"id": "MONDO:0013779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wiskott-Aldrich syndrome 2", "equivalent_identifiers": ["MONDO:0013779", "OMIM:614493", "UMLS:C3281001", "NCIT:C176820", "medgen:482631"], "information_content": 100.0}
{"id": "MONDO:0007067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate kinase hyperactivity", "equivalent_identifiers": ["MONDO:0007067", "OMIM:102900", "EFO:0005840", "UMLS:C1863224", "MESH:C566310", "medgen:350114"], "information_content": 100.0}
{"id": "MONDO:0009527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipase deficiency, combined", "equivalent_identifiers": ["MONDO:0009527", "DOID:0111422", "OMIM:246650", "orphanet:535453", "UMLS:C1855498", "MESH:C535904", "NCIT:C126558", "medgen:340886"], "information_content": 100.0}
{"id": "MONDO:0013776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 5", "equivalent_identifiers": ["MONDO:0013776", "DOID:0050944", "OMIM:614487", "orphanet:313772", "UMLS:C3280977", "SNOMEDCT:771469002", "medgen:482607"], "information_content": 100.0}
{"id": "MONDO:0009820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoporosis-pseudoglioma syndrome", "equivalent_identifiers": ["MONDO:0009820", "DOID:0060849", "OMIM:259770", "orphanet:2788", "UMLS:C0432252", "MESH:C536063", "MEDDRA:10052452", "NCIT:C130998", "SNOMEDCT:254112001", "medgen:98480"], "information_content": 100.0}
{"id": "HP:0008037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent anterior chamber of the eye", "equivalent_identifiers": ["HP:0008037", "UMLS:C0271004", "UMLS:C3550569", "MEDDRA:10016760", "SNOMEDCT:404675003", "SNOMEDCT:55457007"], "information_content": 100.0}
{"id": "MONDO:0012431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphragmatic hernia 3", "equivalent_identifiers": ["MONDO:0012431", "OMIM:610187", "UMLS:C1857781", "MESH:C565710", "medgen:347546"], "information_content": 100.0}
{"id": "HP:0032992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulmonary fissure architecture", "equivalent_identifiers": ["HP:0032992", "UMLS:C5397983"], "information_content": 100.0}
{"id": "HP:6001258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary hyperplasia", "equivalent_identifiers": ["HP:6001258"], "information_content": 100.0}
{"id": "OMIM:146830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Immune Deficiency, Familial Variable", "equivalent_identifiers": ["OMIM:146830", "UMLS:C1840266", "MESH:C564136"]}
{"id": "MONDO:0859288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone marrow failure and diabetes mellitus syndrome", "equivalent_identifiers": ["MONDO:0859288", "OMIM:620044", "UMLS:C5774218", "medgen:1823991"], "information_content": 100.0}
{"id": "MONDO:0033367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 58", "equivalent_identifiers": ["MONDO:0033367", "DOID:0080285", "OMIM:617830", "UMLS:C4693367", "medgen:1646861"], "information_content": 100.0}
{"id": "MONDO:0008865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bietti crystalline corneoretinal dystrophy", "equivalent_identifiers": ["MONDO:0008865", "DOID:0050664", "OMIM:210370", "orphanet:41751", "UMLS:C1859486", "MESH:C535440", "NCIT:C179299", "SNOMEDCT:312927001", "medgen:347895"], "information_content": 100.0}
{"id": "HP:0007880", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marginal corneal dystrophy", "equivalent_identifiers": ["HP:0007880", "UMLS:C4024779"], "information_content": 100.0}
{"id": "MONDO:0859237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria, type VIIA", "equivalent_identifiers": ["MONDO:0859237", "DOID:0081133", "OMIM:619835", "UMLS:C5676967", "medgen:1813022"], "information_content": 100.0}
{"id": "MONDO:0009532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miller-Dieker lissencephaly syndrome", "equivalent_identifiers": ["MONDO:0009532", "DOID:0060469", "OMIM:247200", "orphanet:531", "UMLS:C0265219", "UMLS:C1855481", "MEDDRA:10068361", "MEDDRA:10079426", "NCIT:C124852", "SNOMEDCT:253148005", "medgen:78538", "ICD10:Q93.88"], "information_content": 100.0}
{"id": "HP:0007045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline brain calcifications", "equivalent_identifiers": ["HP:0007045", "UMLS:C1855487"], "information_content": 100.0}
{"id": "MONDO:0009780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal omphalocele-cleft palate syndrome", "equivalent_identifiers": ["MONDO:0009780", "OMIM:258320", "orphanet:2736", "UMLS:C1850317", "MESH:C537747", "SNOMEDCT:719408007", "medgen:376757"], "information_content": 100.0}
{"id": "OMIM:615969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-Fetoprotein Deficiency", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["OMIM:615969", "UMLS:C1863081", "MESH:C566300"]}
{"id": "HP:0045057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating alpha-fetoprotein concentration", "equivalent_identifiers": ["HP:0045057", "UMLS:C4073295", "UMLS:C5826839"], "information_content": 100.0}
{"id": "MONDO:0011496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis", "equivalent_identifiers": ["MONDO:0011496", "OMIM:604864", "orphanet:93279", "UMLS:C0432214", "MESH:C565740", "NCIT:C202115", "SNOMEDCT:254064009", "medgen:609409", "icd11.foundation:690266690"], "information_content": 100.0}
{"id": "HP:0030041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schmorl's node", "equivalent_identifiers": ["HP:0030041", "UMLS:C0410632", "MEDDRA:10039653", "MEDDRA:10039657", "SNOMEDCT:45181002"], "information_content": 100.0}
{"id": "MONDO:0009478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to DOCK8 deficiency", "equivalent_identifiers": ["MONDO:0009478", "DOID:0080594", "OMIM:243700", "orphanet:217390", "UMLS:C4722305", "NCIT:C126343", "medgen:1648410", "icd11.foundation:136043326"], "information_content": 100.0}
{"id": "MONDO:0100053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anaphylaxis", "equivalent_identifiers": ["MONDO:0100053", "UMLS:C0002792", "UMLS:C4316895", "MESH:D000707", "MEDDRA:10002198", "MEDDRA:10002199", "MEDDRA:10002218", "MEDDRA:10042930", "MEDDRA:10042931", "MEDDRA:10069526", "NCIT:C107101", "NCIT:C50460", "SNOMEDCT:39579001", "SNOMEDCT:735173007", "medgen:1373755", "icd11.foundation:1868068711", "HP:0100845"], "information_content": 87.2}
{"id": "MONDO:0032662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 67", "equivalent_identifiers": ["MONDO:0032662", "DOID:0081228", "OMIM:618295", "UMLS:C4749019", "medgen:1648350"], "information_content": 100.0}
{"id": "MONDO:0012561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAKUT1", "equivalent_identifiers": ["MONDO:0012561", "DOID:0080206", "OMIM:610805", "UMLS:C1835826", "MESH:C563661", "medgen:322763"], "information_content": 100.0}
{"id": "MONDO:0042979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemic periodic paralysis, type 1", "equivalent_identifiers": ["MONDO:0042979", "OMIM:170400", "UMLS:C3714580", "medgen:811387"], "information_content": 100.0}
{"id": "MONDO:0008749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoparathyroidism type 2", "equivalent_identifiers": ["MONDO:0008749", "OMIM:203330", "orphanet:94090", "UMLS:C2932717", "MESH:C548077", "NCIT:C131132", "SNOMEDCT:42183005", "medgen:444371", "icd11.foundation:1650158822"], "information_content": 100.0}
{"id": "MONDO:0007685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulosis rubra nasi", "equivalent_identifiers": ["MONDO:0007685", "OMIM:139000", "UMLS:C0263471", "MESH:C562483", "SNOMEDCT:22818000", "medgen:78096", "icd11.foundation:1871134805"], "information_content": 100.0}
{"id": "MONDO:0007042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Saethre-Chotzen syndrome", "equivalent_identifiers": ["MONDO:0007042", "DOID:14768", "OMIM:101400", "orphanet:794", "UMLS:C0175699", "UMLS:C1863370", "MESH:C566325", "NCIT:C75034", "SNOMEDCT:83015004", "medgen:64221", "icd11.foundation:2109857109"], "information_content": 100.0}
{"id": "HP:0010104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent first metatarsal", "equivalent_identifiers": ["HP:0010104", "UMLS:C1863382"], "information_content": 100.0}
{"id": "HP:0000614", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasolacrimal system morphology", "equivalent_identifiers": ["HP:0000614", "UMLS:C4025835"], "information_content": 75.5}
{"id": "HP:0009968", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial duplication of the distal phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009968", "UMLS:C4021360"], "information_content": 100.0}
{"id": "HP:0009951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial duplication of the distal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009951", "UMLS:C4021365"], "information_content": 100.0}
{"id": "MONDO:0012398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal cone dystrophy 3A", "equivalent_identifiers": ["MONDO:0012398", "DOID:0081025", "OMIM:610024", "UMLS:C1864900", "MESH:C566483", "medgen:355864"], "information_content": 100.0}
{"id": "MONDO:0060714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tumoral calcinosis, hyperphosphatemic, familial, 2", "equivalent_identifiers": ["MONDO:0060714", "OMIM:617993", "EFO:0009383", "UMLS:C4693863", "medgen:1640532"], "information_content": 100.0}
{"id": "MONDO:0014646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zimmermann-Laband syndrome 2", "equivalent_identifiers": ["MONDO:0014646", "OMIM:616455", "UMLS:C4225321", "medgen:897567"], "information_content": 100.0}
{"id": "HP:0005322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent nasal septum", "equivalent_identifiers": ["HP:0005322", "UMLS:C4025216", "UMLS:C4280489", "UMLS:C4280490"], "information_content": 100.0}
{"id": "MONDO:0013795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrochondrogenesis 2", "equivalent_identifiers": ["MONDO:0013795", "DOID:0080673", "OMIM:614524", "UMLS:C3281128", "medgen:482758"], "information_content": 100.0}
{"id": "MONDO:0033559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with seizures and language delay", "equivalent_identifiers": ["MONDO:0033559", "OMIM:619000", "UMLS:C5436574", "medgen:1740295"], "information_content": 100.0}
{"id": "HP:0031535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased theta frequency activity in EEG", "equivalent_identifiers": ["HP:0031535", "UMLS:C4531060"], "information_content": 100.0}
{"id": "MONDO:0800215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicentric Castleman disease, susceptibility to", "equivalent_identifiers": ["MONDO:0800215", "OMIM:148000", "UMLS:C3538945", "UMLS:C3541461", "medgen:762089"], "information_content": 100.0}
{"id": "MONDO:0800306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic epilepsy of Lafora 2", "equivalent_identifiers": ["MONDO:0800306", "OMIM:620681", "UMLS:C1850764", "MESH:C564976", "medgen:340621"], "information_content": 100.0}
{"id": "MONDO:0012553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrooculofacioskeletal syndrome 2", "equivalent_identifiers": ["MONDO:0012553", "DOID:0080912", "OMIM:610756", "UMLS:C1853102", "MESH:C565185", "medgen:342799"], "information_content": 100.0}
{"id": "MONDO:0024266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent ductus arteriosus 3", "equivalent_identifiers": ["MONDO:0024266", "OMIM:617039", "UMLS:C4310753", "medgen:934720"], "information_content": 100.0}
{"id": "MONDO:0009352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic homocystinuria", "equivalent_identifiers": ["MONDO:0009352", "OMIM:236200", "orphanet:394", "UMLS:C0751202", "UMLS:C3150344", "MEDDRA:10071093", "SNOMEDCT:24308003", "medgen:199606"], "information_content": 100.0}
{"id": "HP:6000357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced cystathionine beta-synthase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6000357", "UMLS:C5937151"], "information_content": 100.0}
{"id": "HP:0032352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Methioninuria", "equivalent_identifiers": ["HP:0032352", "UMLS:C1856089"], "information_content": 100.0}
{"id": "MONDO:0009235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial benign flecked retina", "equivalent_identifiers": ["MONDO:0009235", "DOID:0111677", "OMIM:228980", "orphanet:363989", "UMLS:C1856718", "MESH:C565564", "SNOMEDCT:770434009", "medgen:341605"], "information_content": 100.0}
{"id": "MONDO:0013657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 10", "equivalent_identifiers": ["MONDO:0013657", "DOID:0070040", "OMIM:614256", "UMLS:C3280284", "medgen:481914"], "information_content": 100.0}
{"id": "MONDO:0010847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 4", "equivalent_identifiers": ["MONDO:0010847", "DOID:0050957", "OMIM:600223", "orphanet:98765", "UMLS:C0752122", "SNOMEDCT:715755008", "medgen:199815", "icd11.foundation:1686006145"], "information_content": 100.0}
{"id": "MONDO:0009294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease VI", "equivalent_identifiers": ["MONDO:0009294", "DOID:2754", "OMIM:232700", "orphanet:369", "UMLS:C0017925", "MESH:D006013", "MEDDRA:10053240", "MEDDRA:10053251", "MEDDRA:10053254", "MEDDRA:10089392", "NCIT:C126875", "SNOMEDCT:29291001", "medgen:6643"], "information_content": 100.0}
{"id": "HP:6000979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hepatic glycogen phosphorylase activity", "equivalent_identifiers": ["HP:6000979", "UMLS:C5970323"], "information_content": 100.0}
{"id": "MONDO:0009942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyknoachondrogenesis", "equivalent_identifiers": ["MONDO:0009942", "OMIM:265880", "orphanet:3003", "UMLS:C1849523", "MESH:C536251", "SNOMEDCT:719258003", "medgen:337844", "icd11.foundation:588435239"], "information_content": 100.0}
{"id": "MONDO:0014066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 5", "equivalent_identifiers": ["MONDO:0014066", "DOID:0080114", "OMIM:615160", "UMLS:C3554608", "medgen:767522"], "information_content": 100.0}
{"id": "HP:0033325", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating sebacic acid concentration", "equivalent_identifiers": ["HP:0033325", "UMLS:C5539518"], "information_content": 100.0}
{"id": "HP:0033504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating fumarate concentration", "equivalent_identifiers": ["HP:0033504", "UMLS:C5539652"], "information_content": 100.0}
{"id": "HP:0033177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating suberic acid concentration", "equivalent_identifiers": ["HP:0033177", "UMLS:C5421664"], "information_content": 100.0}
{"id": "MONDO:0011544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paragangliomas 3", "equivalent_identifiers": ["MONDO:0011544", "OMIM:605373", "UMLS:C1854336", "MESH:C565335", "medgen:340200"], "information_content": 100.0}
{"id": "MONDO:0012299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nanophthalmos 2", "equivalent_identifiers": ["MONDO:0012299", "OMIM:609549", "UMLS:C1836006", "MESH:C563700", "medgen:372177"], "information_content": 100.0}
{"id": "HP:0001120", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of corneal size", "equivalent_identifiers": ["HP:0001120", "UMLS:C4025802"], "information_content": 78.3}
{"id": "MONDO:0014653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 72", "equivalent_identifiers": ["MONDO:0014653", "DOID:0110395", "OMIM:616469", "UMLS:C4225315", "medgen:895867"], "information_content": 100.0}
{"id": "MONDO:0971044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, classic-like, 3", "equivalent_identifiers": ["MONDO:0971044", "OMIM:620865", "UMLS:C5935631", "medgen:1861383"], "information_content": 100.0}
{"id": "HP:6000342", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened mitral valve cusp", "equivalent_identifiers": ["HP:6000342", "UMLS:C5937137"], "information_content": 100.0}
{"id": "HP:0011898", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of circulating fibrinogen", "equivalent_identifiers": ["HP:0011898", "UMLS:C4023139"], "information_content": 88.2}
{"id": "MONDO:0000945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "venous insufficiency", "equivalent_identifiers": ["MONDO:0000945", "DOID:10128", "UMLS:C0042485", "MESH:D014689", "MEDDRA:10047220", "MEDDRA:10057320", "MEDDRA:10075056", "NCIT:C127822", "SNOMEDCT:20696009", "medgen:21841", "ICD9:459.81", "HP:0005293"], "information_content": 82.1}
{"id": "HP:0100550", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tendon rupture", "equivalent_identifiers": ["HP:0100550", "UMLS:C0151937", "MEDDRA:10039326", "MEDDRA:10043248", "MEDDRA:10043249", "SNOMEDCT:415749005"], "information_content": 92.8}
{"id": "HP:0030976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal factor VIII activity", "equivalent_identifiers": ["HP:0030976", "UMLS:C4476889", "MEDDRA:10087447"], "information_content": 83.6}
{"id": "HP:0025509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Piezogenic pedal papules", "equivalent_identifiers": ["HP:0025509", "UMLS:C0263654", "SNOMEDCT:50510006"], "information_content": 100.0}
{"id": "HP:0032199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal prothrombin time", "equivalent_identifiers": ["HP:0032199", "UMLS:C0580412", "MEDDRA:10037057", "MEDDRA:10037058", "SNOMEDCT:165568006"], "information_content": 92.8}
{"id": "MONDO:0014863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly, dysmorphic facies, and psychomotor retardation", "equivalent_identifiers": ["MONDO:0014863", "OMIM:617011", "UMLS:C4310766", "medgen:934733"], "information_content": 95.4}
{"id": "MONDO:0009089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-oligodontia syndrome", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009089", "OMIM:221740", "orphanet:3230", "UMLS:C1857333", "MESH:C538049", "SNOMEDCT:715527006", "medgen:387798"], "information_content": 100.0}
{"id": "MONDO:0014277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental dysplasia of the hip 2", "equivalent_identifiers": ["MONDO:0014277", "DOID:0060932", "OMIM:615612", "UMLS:C3715079", "medgen:811575"], "information_content": 100.0}
{"id": "MONDO:0033615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenzyme q10 deficiency, primary, 9", "equivalent_identifiers": ["MONDO:0033615", "DOID:0112138", "OMIM:619028", "UMLS:C5436638", "medgen:1740444"], "information_content": 100.0}
{"id": "MONDO:0032684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency", "equivalent_identifiers": ["MONDO:0032684", "OMIM:618336", "UMLS:C5193036", "medgen:1684464"], "information_content": 100.0}
{"id": "MONDO:0044634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0044634", "DOID:0081175", "OMIM:617763", "orphanet:494439", "UMLS:C4540367", "medgen:1615526"], "information_content": 100.0}
{"id": "MONDO:0012084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aromatic L-amino acid decarboxylase deficiency", "equivalent_identifiers": ["MONDO:0012084", "DOID:0090123", "OMIM:608643", "orphanet:35708", "UMLS:C0342686", "UMLS:C1291564", "MESH:C537437", "MEDDRA:10084110", "NCIT:C142085", "SNOMEDCT:124600004", "SNOMEDCT:237922009", "medgen:220945", "icd11.foundation:1134258245", "ICD10:E70.81"], "information_content": 100.0}
{"id": "HP:6000037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating aromatic L-amino acid decarboxylase activity", "equivalent_identifiers": ["HP:6000037", "UMLS:C5936920"], "information_content": 100.0}
{"id": "HP:6001002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary vanillactic acid level", "equivalent_identifiers": ["HP:6001002", "UMLS:C5970342"], "information_content": 100.0}
{"id": "HP:0002374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished movement", "equivalent_identifiers": ["HP:0002374", "UMLS:C4025710"], "information_content": 87.2}
{"id": "MONDO:0010491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked acrogigantism due to Xq26 microduplication", "equivalent_identifiers": ["MONDO:0010491", "OMIM:300942", "UMLS:C3891556", "SNOMEDCT:768472004", "SNOMEDCT:789187001", "medgen:856021"], "information_content": 100.0}
{"id": "HP:0500001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Body odor", "equivalent_identifiers": ["HP:0500001", "NCIT:C79542", "UMLS:C0085595", "UMLS:C0263472", "MEDDRA:10005901", "MEDDRA:10005902", "MEDDRA:10030092", "MEDDRA:10055000", "MEDDRA:10055963", "SNOMEDCT:301340007", "SNOMEDCT:363813002", "SNOMEDCT:65382006", "SNOMEDCT:81917002", "MESH:D000089083"], "information_content": 89.4}
{"id": "MONDO:0008263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 1", "equivalent_identifiers": ["MONDO:0008263", "DOID:0110858", "OMIM:173900", "UMLS:C2931174", "UMLS:C3149841", "MESH:C536326", "MESH:C566792", "SNOMEDCT:253878003", "medgen:461191"], "information_content": 100.0}
{"id": "MONDO:0008862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "equivalent_identifiers": ["MONDO:0008862", "DOID:0080580", "OMIM:210210", "UMLS:C1859499", "MESH:C535309", "medgen:347898"], "information_content": 100.0}
{"id": "HP:0008281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute hyperammonemia", "equivalent_identifiers": ["HP:0008281", "UMLS:C1859506"], "information_content": 100.0}
{"id": "MONDO:0010599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomas, congenital cerebral", "equivalent_identifiers": ["MONDO:0010599", "OMIM:306300", "UMLS:C1844406", "MESH:C537294", "medgen:336683"], "information_content": 100.0}
{"id": "MONDO:0054781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 36", "equivalent_identifiers": ["MONDO:0054781", "DOID:0111482", "OMIM:617950", "UMLS:C4693722", "medgen:1644927"], "information_content": 100.0}
{"id": "MONDO:0011702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1L", "equivalent_identifiers": ["MONDO:0011702", "DOID:0110436", "OMIM:606685", "UMLS:C1847667", "MESH:C564679", "medgen:335735"], "information_content": 100.0}
{"id": "MONDO:0030917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 51", "equivalent_identifiers": ["MONDO:0030917", "DOID:0080232", "OMIM:617788", "orphanet:684226", "UMLS:C4540474", "medgen:1625009"], "information_content": 100.0}
{"id": "HP:0032895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Febrile seizure outside the age of 3 months to 6 years", "equivalent_identifiers": ["HP:0032895", "UMLS:C5397900"], "information_content": 100.0}
{"id": "HP:4000076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Use of another person's body to communicate", "equivalent_identifiers": ["HP:4000076", "UMLS:C5676856"], "information_content": 100.0}
{"id": "MONDO:0957991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 53", "equivalent_identifiers": ["MONDO:0957991", "OMIM:620642", "UMLS:C5882728", "medgen:1851509"], "information_content": 100.0}
{"id": "HP:0034196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ductus venosus agenesis", "equivalent_identifiers": ["HP:0034196", "NCIT:C111779", "UMLS:C2363934", "MEDDRA:10068665"], "information_content": 92.8}
{"id": "MONDO:0010548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, X-linked 2", "equivalent_identifiers": ["MONDO:0010548", "DOID:0111830", "OMIM:302600", "UMLS:C1844885", "MESH:C537314", "medgen:375535"], "information_content": 100.0}
{"id": "MONDO:0014355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis", "equivalent_identifiers": ["MONDO:0014355", "OMIM:615821", "orphanet:476096", "UMLS:C4014393", "medgen:862830"], "information_content": 100.0}
{"id": "MONDO:0008789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane", "equivalent_identifiers": ["MONDO:0008789", "OMIM:206300", "UMLS:C1859786", "MESH:C565953", "medgen:349245"], "information_content": 100.0}
{"id": "MONDO:0008739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agenesis of cerebral white matter", "equivalent_identifiers": ["MONDO:0008739", "OMIM:202600", "UMLS:C1859969", "medgen:347986", "HP:0200017"], "information_content": 100.0}
{"id": "MONDO:0012141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 6, susceptibility to", "equivalent_identifiers": ["MONDO:0012141", "DOID:0080593", "OMIM:608864", "UMLS:C1837213", "medgen:332391"], "information_content": 100.0}
{"id": "MONDO:0014658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SADDAN", "equivalent_identifiers": ["MONDO:0014658", "DOID:0111158", "OMIM:616482", "orphanet:85165", "UMLS:C2674173", "MEDDRA:10082394", "SNOMEDCT:699870002", "medgen:393098"], "information_content": 100.0}
{"id": "MONDO:0009603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxyisobutyryl-CoA hydrolase deficiency", "equivalent_identifiers": ["MONDO:0009603", "DOID:0060949", "OMIM:250620", "orphanet:88639", "UMLS:C0342738", "UMLS:C4283745", "MESH:C562803", "SNOMEDCT:124427009", "SNOMEDCT:722488009", "medgen:83349", "HP:6000215"], "information_content": 100.0}
{"id": "MONDO:0030716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 66", "equivalent_identifiers": ["MONDO:0030716", "DOID:0070565", "OMIM:619799", "UMLS:C5676945", "medgen:1806298"], "information_content": 100.0}
{"id": "MONDO:0100292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carey-Fineman-Ziter syndrome 2", "equivalent_identifiers": ["MONDO:0100292", "DOID:0061116", "OMIM:619941", "UMLS:C5677012", "medgen:1800921"], "information_content": 100.0}
{"id": "HP:0000419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal septum morphology", "equivalent_identifiers": ["HP:0000419", "UMLS:C0151790", "UMLS:C4316811", "MEDDRA:10028763", "MEDDRA:10028764", "SNOMEDCT:95433000"], "information_content": 78.0}
{"id": "HP:0011805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal skeletal muscle morphology", "equivalent_identifiers": ["HP:0011805", "UMLS:C4023181"], "information_content": 51.2}
{"id": "MONDO:0008810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial apolipoprotein C-II deficiency", "equivalent_identifiers": ["MONDO:0008810", "DOID:0111418", "OMIM:207750", "orphanet:309020", "UMLS:C0268199", "UMLS:C1720779", "SNOMEDCT:33513003", "medgen:328375", "icd11.foundation:877401371"], "information_content": 100.0}
{"id": "HP:0033983", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating apolipoprotein C-II concentration", "equivalent_identifiers": ["HP:0033983", "UMLS:C1859747"], "information_content": 100.0}
{"id": "MONDO:0009624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly and chorioretinopathy 1", "equivalent_identifiers": ["MONDO:0009624", "DOID:0080105", "OMIM:251270", "orphanet:2518", "UMLS:C3278481", "NCIT:C129306", "medgen:480111"], "information_content": 100.0}
{"id": "MONDO:0011159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 13", "equivalent_identifiers": ["MONDO:0011159", "DOID:0110545", "OMIM:601868", "UMLS:C1866095", "MESH:C566612", "medgen:400917"], "information_content": 100.0}
{"id": "MONDO:0012590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "XFE progeroid syndrome", "equivalent_identifiers": ["MONDO:0012590", "DOID:0060590", "OMIM:610965", "UMLS:C1970416", "MESH:C567043", "NCIT:C173111", "medgen:410064"], "information_content": 100.0}
{"id": "MONDO:0008709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocephalopolydactyly", "equivalent_identifiers": ["MONDO:0008709", "OMIM:200995", "orphanet:221054", "UMLS:C3495588", "MESH:C573722", "SNOMEDCT:720417003", "medgen:501209", "icd11.foundation:1177551296"], "information_content": 100.0}
{"id": "HP:0005210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic colon", "equivalent_identifiers": ["HP:0005210", "UMLS:C1392839"], "information_content": 100.0}
{"id": "HP:0004790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the small intestine", "equivalent_identifiers": ["HP:0004790", "UMLS:C4025291"], "information_content": 100.0}
{"id": "HP:0006544", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extrapulmonary lobar sequestration", "equivalent_identifiers": ["HP:0006544", "UMLS:C4020814", "UMLS:C4023626", "UMLS:C4025023"], "information_content": 100.0}
{"id": "MONDO:0014351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 9", "equivalent_identifiers": ["MONDO:0014351", "DOID:0060278", "OMIM:615809", "orphanet:369920", "UMLS:C4014354", "medgen:862791"], "information_content": 100.0}
{"id": "MONDO:0032780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities", "equivalent_identifiers": ["MONDO:0032780", "OMIM:618493", "UMLS:C5193124", "medgen:1672905"], "information_content": 100.0}
{"id": "HP:0011185", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with focal epileptiform discharges", "equivalent_identifiers": ["HP:0011185", "UMLS:C4021199"], "information_content": 75.2}
{"id": "HP:0011203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with abnormally slow frequencies", "equivalent_identifiers": ["HP:0011203", "UMLS:C4023471"], "information_content": 83.6}
{"id": "MONDO:0859260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dworschak-Punetha neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859260", "OMIM:619955", "UMLS:C5677017", "medgen:1800957"], "information_content": 100.0}
{"id": "MONDO:0957577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "variegate porphyria, childhood-onset", "equivalent_identifiers": ["MONDO:0957577", "OMIM:620483", "UMLS:C5882681", "medgen:1849794"], "information_content": 100.0}
{"id": "MONDO:0030938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 52", "equivalent_identifiers": ["MONDO:0030938", "DOID:0112270", "OMIM:619202", "UMLS:C5543094", "medgen:1785685"], "information_content": 100.0}
{"id": "MONDO:0024568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile liver failure syndrome 1", "equivalent_identifiers": ["MONDO:0024568", "DOID:0080717", "OMIM:615438", "orphanet:370088", "UMLS:C3809522", "medgen:815852"], "information_content": 100.0}
{"id": "MONDO:0008572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tibia, hypoplasia or aplasia of, with polydactyly", "equivalent_identifiers": ["MONDO:0008572", "DOID:0111564", "OMIM:188740", "orphanet:988", "UMLS:C1861098", "UMLS:C1861099", "UMLS:C4274307", "MESH:C535564", "MESH:C566046", "SNOMEDCT:716741008", "medgen:348786"], "information_content": 100.0}
{"id": "MONDO:0012902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 27", "equivalent_identifiers": ["MONDO:0012902", "DOID:0110556", "OMIM:612431", "UMLS:C3887929", "medgen:854637"], "information_content": 100.0}
{"id": "MONDO:0014725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", "equivalent_identifiers": ["MONDO:0014725", "DOID:0070537", "OMIM:616657", "orphanet:447997", "UMLS:C4225254", "SNOMEDCT:1237418002", "medgen:900192"], "information_content": 100.0}
{"id": "MONDO:0007497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ear antitragus, tag at base of", "equivalent_identifiers": ["MONDO:0007497", "OMIM:128290", "UMLS:C1851905", "medgen:343680"], "information_content": 100.0}
{"id": "MONDO:0013873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMAGe syndrome", "equivalent_identifiers": ["MONDO:0013873", "DOID:0050885", "OMIM:614732", "orphanet:85173", "UMLS:C1846009", "MESH:C564543", "NCIT:C130988", "SNOMEDCT:702384004", "medgen:337364", "icd11.foundation:1064803315"], "information_content": 100.0}
{"id": "MONDO:0020849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 57", "equivalent_identifiers": ["MONDO:0020849", "DOID:0111952", "OMIM:618108", "UMLS:C4748212", "medgen:1648306"], "information_content": 100.0}
{"id": "MONDO:0010663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-hypotonic facies syndrome, X-linked, 1", "equivalent_identifiers": ["MONDO:0010663", "DOID:0080982", "OMIM:309580", "UMLS:C0796159", "UMLS:C4759781", "MESH:C537445", "MESH:C537457", "SNOMEDCT:1156584007", "SNOMEDCT:717763008", "SNOMEDCT:719212004", "medgen:1676827"], "information_content": 100.0}
{"id": "HP:0000451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular nasal tip", "equivalent_identifiers": ["HP:0000451", "UMLS:C1839765"], "information_content": 100.0}
{"id": "MONDO:0030977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 7", "equivalent_identifiers": ["MONDO:0030977", "DOID:0081426", "OMIM:619216", "UMLS:C5543119", "medgen:1786836"], "information_content": 100.0}
{"id": "MONDO:0013115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RIN2 syndrome", "equivalent_identifiers": ["MONDO:0013115", "OMIM:613075", "orphanet:217335", "UMLS:C2751321", "MESH:C567770", "SNOMEDCT:723367005", "medgen:416526"], "information_content": 100.0}
{"id": "MONDO:0020858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5", "equivalent_identifiers": ["MONDO:0020858", "DOID:0070463", "OMIM:618120", "UMLS:C4748269", "medgen:1648429"], "information_content": 100.0}
{"id": "MONDO:0014969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated sedoheptulokinase deficiency", "equivalent_identifiers": ["MONDO:0014969", "OMIM:617213", "orphanet:440713", "UMLS:C1291373", "SNOMEDCT:124309005", "medgen:713680"], "information_content": 100.0}
{"id": "HP:0025157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary sedoheptulose", "equivalent_identifiers": ["HP:0025157", "UMLS:C4313432"], "information_content": 100.0}
{"id": "MONDO:0007972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meniere disease", "equivalent_identifiers": ["MONDO:0007972", "DOID:9849", "OMIM:156000", "EFO:0006862", "UMLS:C0025281", "UMLS:C1527320", "MESH:D008575", "MEDDRA:10027183", "MEDDRA:10027184", "MEDDRA:10027185", "MEDDRA:10042823", "NCIT:C185243", "SNOMEDCT:13445001", "medgen:7530", "icd11.foundation:683932278", "ICD9:386.0"], "information_content": 90.9}
{"id": "MONDO:0024466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial paresis, hereditary congenital, 1", "equivalent_identifiers": ["MONDO:0024466", "OMIM:601471", "UMLS:C1832284", "medgen:371292"], "information_content": 100.0}
{"id": "MONDO:0011032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 11", "equivalent_identifiers": ["MONDO:0011032", "DOID:0110543", "OMIM:601317", "UMLS:C1832475", "MESH:C563353", "medgen:331297"], "information_content": 100.0}
{"id": "MONDO:0020762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diencephalic-mesencephalic junction dysplasia syndrome 2", "equivalent_identifiers": ["MONDO:0020762", "OMIM:618646", "UMLS:C5231440", "medgen:1684846"], "information_content": 100.0}
{"id": "MONDO:0012387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerosis-ichthyosis-premature ovarian failure syndrome", "equivalent_identifiers": ["MONDO:0012387", "OMIM:609993", "orphanet:75325", "UMLS:C1864942", "UMLS:C4302815", "MESH:C536064", "SNOMEDCT:722114007", "medgen:355875"], "information_content": 100.0}
{"id": "MONDO:0033203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RENI SYNDROME", "equivalent_identifiers": ["MONDO:0033203", "DOID:0080265", "OMIM:617575", "orphanet:506334", "UMLS:C4540559", "medgen:1617660"], "information_content": 100.0}
{"id": "MONDO:0014147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 13", "equivalent_identifiers": ["MONDO:0014147", "DOID:0110727", "OMIM:615362", "orphanet:352709", "UMLS:C3715049", "medgen:811566"], "information_content": 100.0}
{"id": "MONDO:0009861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phenylketonuria", "equivalent_identifiers": ["MONDO:0009861", "DOID:9281", "OMIM:261600", "orphanet:716", "UMLS:C0031485", "UMLS:C2678416", "MESH:C567494", "MESH:D010661", "MEDDRA:10034871", "MEDDRA:10034872", "MEDDRA:10034873", "MEDDRA:10035118", "MEDDRA:10060404", "NCIT:C81315", "SNOMEDCT:190687004", "SNOMEDCT:7573000", "medgen:19244", "icd11.foundation:444122923", "ICD9:270.1"], "information_content": 84.2}
{"id": "HP:0034458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary phenylpyruvic acid level", "equivalent_identifiers": ["HP:0034458", "UMLS:C5826407"], "information_content": 100.0}
{"id": "HP:6000281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary gamma-glutamylphenylalanine level", "equivalent_identifiers": ["HP:6000281", "UMLS:C5937093"], "information_content": 100.0}
{"id": "MONDO:0019259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic phenylketonuria", "equivalent_identifiers": ["MONDO:0019259", "orphanet:79254", "UMLS:C0751434", "UMLS:C4025094", "MEDDRA:10034875", "NCIT:C117117", "medgen:199655", "icd11.foundation:2084504393", "HP:0005982"], "information_content": 100.0}
{"id": "HP:0004920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phenylpyruvic acidemia", "equivalent_identifiers": ["HP:0004920", "UMLS:C1849926"], "information_content": 100.0}
{"id": "MONDO:0013380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LEOPARD syndrome 3", "equivalent_identifiers": ["MONDO:0013380", "DOID:0080550", "OMIM:613707", "UMLS:C3150971", "medgen:462321"], "information_content": 100.0}
{"id": "MONDO:0014154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease recessive intermediate C", "equivalent_identifiers": ["MONDO:0014154", "DOID:0110198", "OMIM:615376", "orphanet:369867", "UMLS:C3809309", "medgen:815639"], "information_content": 100.0}
{"id": "MONDO:0032850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurooculocardiogenitourinary syndrome", "equivalent_identifiers": ["MONDO:0032850", "DOID:0111675", "OMIM:618652", "orphanet:684305", "EFO:0010663", "UMLS:C5231443", "medgen:1684841"], "information_content": 100.0}
{"id": "MONDO:0060510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cohen-Gibson syndrome", "equivalent_identifiers": ["MONDO:0060510", "OMIM:617561", "orphanet:659396", "UMLS:C4479654", "medgen:1386939"], "information_content": 100.0}
{"id": "MONDO:0014968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, progressive, with amyotrophy and optic atrophy", "equivalent_identifiers": ["MONDO:0014968", "OMIM:617207", "UMLS:C4310667", "medgen:934634"], "information_content": 100.0}
{"id": "MONDO:0009933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital pulmonary lymphangiectasia", "equivalent_identifiers": ["MONDO:0009933", "OMIM:265300", "orphanet:2414", "UMLS:C1849554", "MESH:C537727", "NCIT:C99034", "SNOMEDCT:45142002", "medgen:340355", "icd11.foundation:2069435755"], "information_content": 100.0}
{"id": "MONDO:0008829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chylous ascites", "equivalent_identifiers": ["MONDO:0008829", "OMIM:208300", "orphanet:1160", "UMLS:C0008732", "MESH:D002915", "MEDDRA:10003446", "MEDDRA:10009167", "NCIT:C34482", "SNOMEDCT:52985009", "medgen:969", "icd11.foundation:768846885", "HP:0012281"], "information_content": 100.0}
{"id": "HP:0006533", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bronchodysplasia", "equivalent_identifiers": ["HP:0006533", "UMLS:C4025025"], "information_content": 100.0}
{"id": "HP:6000910", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished tissue alpha-L-iduronidase activity", "equivalent_identifiers": ["HP:6000910", "UMLS:C5970269"], "information_content": 100.0}
{"id": "MONDO:0012179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "narcolepsy 3", "equivalent_identifiers": ["MONDO:0012179", "OMIM:609039", "UMLS:C1836907", "medgen:332320"], "information_content": 100.0}
{"id": "MONDO:0012892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone fragility with contractures, arterial rupture, and deafness", "equivalent_identifiers": ["MONDO:0012892", "OMIM:612394", "orphanet:300284", "UMLS:C2676285", "UMLS:C4706393", "MESH:C567320", "SNOMEDCT:763318007", "medgen:382811"], "information_content": 100.0}
{"id": "HP:0006184", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased palmar creases", "equivalent_identifiers": ["HP:0006184", "UMLS:C1857483"], "information_content": 100.0}
{"id": "MONDO:0008736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 2B", "equivalent_identifiers": ["MONDO:0008736", "DOID:0080622", "OMIM:202370", "UMLS:C3550234", "NCIT:C155751", "medgen:763148"], "information_content": 100.0}
{"id": "HP:0010696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polar cataract", "equivalent_identifiers": ["HP:0010696", "UMLS:C2025392"], "information_content": 90.9}
{"id": "MONDO:0010268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked lissencephaly with abnormal genitalia", "equivalent_identifiers": ["MONDO:0010268", "DOID:0112238", "OMIM:300215", "orphanet:452", "UMLS:C1846171", "UMLS:C1846172", "MESH:C564563", "SNOMEDCT:717632002", "medgen:375832"], "information_content": 100.0}
{"id": "MONDO:0010932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive bifocal chorioretinal atrophy", "equivalent_identifiers": ["MONDO:0010932", "OMIM:600790", "orphanet:75373", "UMLS:C1833321", "MESH:C535356", "SNOMEDCT:719266007", "medgen:371537", "icd11.foundation:1936121929"], "information_content": 100.0}
{"id": "MONDO:0957224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 21 with early respiratory failure", "equivalent_identifiers": ["MONDO:0957224", "DOID:0081353", "OMIM:620326", "UMLS:C5830424", "medgen:1841060"], "information_content": 100.0}
{"id": "MONDO:0005826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipid pneumonia", "equivalent_identifiers": ["MONDO:0005826", "DOID:3241", "EFO:0007345", "UMLS:C0032298", "MESH:D011017", "MEDDRA:10024583", "MEDDRA:10024611", "MEDDRA:10035719", "MEDDRA:10035720", "SNOMEDCT:416916004", "SNOMEDCT:707449006", "medgen:19362", "ICD10:J69.1", "HP:0033364"], "information_content": 92.8}
{"id": "MONDO:0011938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 2", "equivalent_identifiers": ["MONDO:0011938", "DOID:0110107", "OMIM:607941", "UMLS:C1842778", "MESH:C538263", "medgen:334249"], "information_content": 100.0}
{"id": "MONDO:0009064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular cystinosis", "equivalent_identifiers": ["MONDO:0009064", "OMIM:219750", "orphanet:411641", "UMLS:C0342711", "UMLS:C2931013", "MESH:C535765", "SNOMEDCT:25010000", "medgen:419313"], "information_content": 100.0}
{"id": "MONDO:0013566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group L", "equivalent_identifiers": ["MONDO:0013566", "DOID:0111082", "OMIM:614083", "UMLS:C3469528", "NCIT:C164677", "medgen:854018"], "information_content": 92.8}
{"id": "MONDO:0011426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aceruloplasminemia", "equivalent_identifiers": ["MONDO:0011426", "DOID:0050711", "OMIM:604290", "orphanet:48818", "UMLS:C0878682", "MEDDRA:10083235", "MEDDRA:10083240", "NCIT:C189281", "SNOMEDCT:124224004", "medgen:168057"], "information_content": 100.0}
{"id": "HP:0025498", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aceruloplasminemia", "equivalent_identifiers": ["HP:0025498", "UMLS:C5886928"], "information_content": 100.0}
{"id": "MONDO:0013571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acatalasia", "equivalent_identifiers": ["MONDO:0013571", "DOID:2582", "OMIM:614097", "orphanet:926", "EFO:0004144", "UMLS:C0268419", "UMLS:C2931868", "MESH:D020642", "MEDDRA:10086141", "MEDDRA:10086151", "MEDDRA:10086152", "NCIT:C84526", "SNOMEDCT:124202004", "SNOMEDCT:267454002", "medgen:75679"], "information_content": 100.0}
{"id": "HP:0012517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating catalase activity", "equivalent_identifiers": ["HP:0012517", "UMLS:C4022869"], "information_content": 100.0}
{"id": "MONDO:0014802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 7", "equivalent_identifiers": ["MONDO:0014802", "DOID:0081003", "OMIM:616858", "UMLS:C4225179", "medgen:908796"], "information_content": 100.0}
{"id": "MONDO:0957230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte/zygote/embryo maturation arrest 18", "equivalent_identifiers": ["MONDO:0957230", "OMIM:620332", "UMLS:C5830441", "medgen:1841077"], "information_content": 100.0}
{"id": "MONDO:0014729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 75", "equivalent_identifiers": ["MONDO:0014729", "DOID:0110820", "OMIM:616680", "orphanet:459056", "EFO:0009018", "UMLS:C4225250", "SNOMEDCT:1187470001", "medgen:896387"], "information_content": 100.0}
{"id": "MONDO:0030033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seizures, early-onset, with neurodegeneration and brain calcifications", "equivalent_identifiers": ["MONDO:0030033", "OMIM:618875", "UMLS:C5394359", "medgen:1713658"], "information_content": 100.0}
{"id": "MONDO:0957540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIaa", "equivalent_identifiers": ["MONDO:0957540", "OMIM:620454", "UMLS:C5830651", "medgen:1841287"], "information_content": 100.0}
{"id": "MONDO:0013975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 7, hair/nail type", "equivalent_identifiers": ["MONDO:0013975", "DOID:0111660", "OMIM:614929", "UMLS:C3554117", "medgen:767031"], "information_content": 100.0}
{"id": "MONDO:0010967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 7", "equivalent_identifiers": ["MONDO:0010967", "DOID:0110520", "OMIM:600974", "UMLS:C1832978", "MESH:C563417", "medgen:322084"], "information_content": 100.0}
{"id": "MONDO:0012745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1Z", "equivalent_identifiers": ["MONDO:0012745", "DOID:0110434", "OMIM:611879", "UMLS:C2678475", "MESH:C567506", "medgen:395631"], "information_content": 100.0}
{"id": "MONDO:0008086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory and autonomic, type 1A", "equivalent_identifiers": ["MONDO:0008086", "DOID:0070152", "OMIM:162400", "UMLS:C5235211", "SNOMEDCT:860813007", "medgen:1716450"], "information_content": 100.0}
{"id": "MONDO:0013485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 35", "equivalent_identifiers": ["MONDO:0013485", "DOID:0050982", "OMIM:613908", "orphanet:276193", "UMLS:C3888031", "SNOMEDCT:719300001", "medgen:854733", "icd11.foundation:1674449075"], "information_content": 100.0}
{"id": "MONDO:0975847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune disease with susceptibility to mycobacterium tuberculosis", "equivalent_identifiers": ["MONDO:0975847", "OMIM:621004", "UMLS:C5975515"], "information_content": 100.0}
{"id": "HP:0100592", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peritoneal abscess", "equivalent_identifiers": ["HP:0100592", "UMLS:C0267756", "MEDDRA:10034649", "SNOMEDCT:73962000"], "information_content": 95.4}
{"id": "HP:0034062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-insulin antibody positivity", "equivalent_identifiers": ["HP:0034062", "UMLS:C5671118"], "information_content": 100.0}
{"id": "HP:6000901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay", "equivalent_identifiers": ["HP:6000901", "UMLS:C5970260"], "information_content": 100.0}
{"id": "MONDO:0009470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Baraitser-Winter syndrome 1", "equivalent_identifiers": ["MONDO:0009470", "DOID:0081112", "OMIM:243310", "UMLS:C1855722", "MESH:C565462", "medgen:340943"], "information_content": 100.0}
{"id": "MONDO:0012373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features", "equivalent_identifiers": ["MONDO:0012373", "OMIM:609944", "UMLS:C1864966", "MESH:C536182", "medgen:355878"], "information_content": 100.0}
{"id": "MONDO:0030015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone marrow failure syndrome 6", "equivalent_identifiers": ["MONDO:0030015", "OMIM:618849", "UMLS:C5394274", "medgen:1717739"], "information_content": 100.0}
{"id": "MONDO:0009632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies", "equivalent_identifiers": ["MONDO:0009632", "OMIM:251700", "UMLS:C1968637", "MESH:C566884", "medgen:368490"], "information_content": 100.0}
{"id": "MONDO:0011602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 27", "equivalent_identifiers": ["MONDO:0011602", "DOID:0110485", "OMIM:605818", "UMLS:C1853941", "MESH:C565287", "medgen:381303"], "information_content": 100.0}
{"id": "MONDO:0013965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 4", "equivalent_identifiers": ["MONDO:0013965", "DOID:0060654", "OMIM:614915", "UMLS:C3554046", "medgen:766960"], "information_content": 100.0}
{"id": "MONDO:0009709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, centronuclear, 2", "equivalent_identifiers": ["MONDO:0009709", "DOID:0111220", "OMIM:255200", "UMLS:C0410204", "MESH:C562934", "medgen:98049"], "information_content": 100.0}
{"id": "MONDO:0024531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, tubular aggregate, 1", "equivalent_identifiers": ["MONDO:0024531", "OMIM:160565", "UMLS:C4011726", "medgen:860163"], "information_content": 100.0}
{"id": "HP:0000615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pupil morphology", "equivalent_identifiers": ["HP:0000615", "UMLS:C0154936", "SNOMEDCT:274093008"], "information_content": 80.9}
{"id": "MONDO:0009550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypomagnesemia 3", "equivalent_identifiers": ["MONDO:0009550", "DOID:0060880", "OMIM:248250", "orphanet:31043", "UMLS:C0268448", "UMLS:C3151482", "UMLS:C4511528", "MESH:C537153", "MEDDRA:10085890", "MEDDRA:10085891", "SNOMEDCT:725033008", "medgen:120640"], "information_content": 100.0}
{"id": "HP:0100586", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sterile pyuria", "equivalent_identifiers": ["HP:0100586", "NCIT:C168439", "UMLS:C0281986", "UMLS:C4022017", "MEDDRA:10042010", "SNOMEDCT:275742001"], "information_content": 100.0}
{"id": "HP:0012406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypercitraturia", "equivalent_identifiers": ["HP:0012406", "UMLS:C4021090"], "information_content": 95.4}
{"id": "MONDO:0030014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, limb-girdle, autosomal recessive 26", "equivalent_identifiers": ["MONDO:0030014", "DOID:0061131", "OMIM:618848", "UMLS:C5394268", "medgen:1718449"], "information_content": 100.0}
{"id": "MONDO:0012374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia", "equivalent_identifiers": ["MONDO:0012374", "OMIM:609945", "UMLS:C1864965", "MESH:C537100", "medgen:355340"], "information_content": 100.0}
{"id": "HP:0008830", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic pubic ramus", "equivalent_identifiers": ["HP:0008830", "UMLS:C1969176"], "information_content": 92.8}
{"id": "MONDO:0957563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay", "equivalent_identifiers": ["MONDO:0957563", "OMIM:620469", "UMLS:C5882675", "medgen:1848439"], "information_content": 100.0}
{"id": "HP:0011385", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent internal auditory canal", "equivalent_identifiers": ["HP:0011385", "UMLS:C4023384"], "information_content": 100.0}
{"id": "MONDO:0013964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 11", "equivalent_identifiers": ["MONDO:0013964", "DOID:0111892", "OMIM:614900", "UMLS:C3554042", "NCIT:C176920", "medgen:766956"], "information_content": 100.0}
{"id": "HP:0011908", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral radial aplasia", "equivalent_identifiers": ["HP:0011908", "UMLS:C4023135"], "information_content": 100.0}
{"id": "MONDO:0007790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 3", "equivalent_identifiers": ["MONDO:0007790", "DOID:0050540", "OMIM:145900", "orphanet:64748", "UMLS:C0011195", "NCIT:C133087", "SNOMEDCT:111499002", "medgen:3710"], "information_content": 100.0}
{"id": "HP:0030175", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelin tomacula", "equivalent_identifiers": ["HP:0030175", "UMLS:C4020904"], "information_content": 100.0}
{"id": "MONDO:0008052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy with storage of glycoproteins and Glycosaminoglycans", "equivalent_identifiers": ["MONDO:0008052", "OMIM:160570", "UMLS:C1834532", "MESH:C563542", "medgen:371846"], "information_content": 100.0}
{"id": "MONDO:0010274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular germ cell tumor 1", "equivalent_identifiers": ["MONDO:0010274", "OMIM:300228", "UMLS:C1846164", "MESH:C564559", "medgen:337402"], "information_content": 100.0}
{"id": "HP:0100728", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Germ cell neoplasia", "equivalent_identifiers": ["HP:0100728", "UMLS:C4021985"], "information_content": 78.5}
{"id": "MONDO:0012744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1Y", "equivalent_identifiers": ["MONDO:0012744", "DOID:0110457", "OMIM:611878", "UMLS:C2678476", "MESH:C567507", "medgen:437215"], "information_content": 100.0}
{"id": "MONDO:0007172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 1", "equivalent_identifiers": ["MONDO:0007172", "DOID:0110106", "OMIM:108800", "UMLS:C1862389", "UMLS:C1862392", "MESH:C566239", "MESH:C566241", "medgen:349495", "ICD10:Q21.1"], "information_content": 100.0}
{"id": "HP:0012516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tetralogy of Fallot with pulmonary atresia", "equivalent_identifiers": ["HP:0012516", "UMLS:C0344882", "SNOMEDCT:253513005"], "information_content": 95.4}
{"id": "MONDO:0010968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 3, primary infantile, B", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0010968", "OMIM:600975", "UMLS:C1832977", "MESH:C536824", "medgen:331409"], "information_content": 100.0}
{"id": "OMIM:616871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO", "equivalent_identifiers": ["OMIM:616871", "UMLS:C4225174"]}
{"id": "MONDO:0013486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 32", "equivalent_identifiers": ["MONDO:0013486", "OMIM:613909", "orphanet:276183", "UMLS:C3151343", "SNOMEDCT:719254001", "medgen:462693", "icd11.foundation:1372046516"], "information_content": 100.0}
{"id": "MONDO:0015350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "17q11.2 microduplication syndrome", "equivalent_identifiers": ["MONDO:0015350", "OMIM:618874", "orphanet:139474", "UMLS:C3495679", "MESH:C567173", "SNOMEDCT:719583002", "medgen:501218"], "information_content": 100.0}
{"id": "MONDO:0014730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 16, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014730", "DOID:0070289", "OMIM:616681", "UMLS:C4225249", "medgen:898705"], "information_content": 100.0}
{"id": "MONDO:0957231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte/zygote/embryo maturation arrest 19", "equivalent_identifiers": ["MONDO:0957231", "OMIM:620333", "UMLS:C5830442", "medgen:1841078"], "information_content": 100.0}
{"id": "MONDO:0014803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spasticity-ataxia-gait anomalies syndrome", "equivalent_identifiers": ["MONDO:0014803", "OMIM:616859", "orphanet:401866", "UMLS:C4225178", "SNOMEDCT:773492007", "medgen:905660"], "information_content": 100.0}
{"id": "MONDO:0010578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jensen syndrome", "equivalent_identifiers": ["MONDO:0010578", "DOID:0050757", "OMIM:304700", "orphanet:52368", "UMLS:C0796074", "UMLS:C1839564", "MESH:C535808", "MESH:C537568", "SNOMEDCT:702423009", "medgen:162903"], "information_content": 100.0}
{"id": "MONDO:0013570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 8", "equivalent_identifiers": ["MONDO:0013570", "DOID:0111479", "OMIM:614096", "orphanet:319504", "UMLS:C4518839", "NCIT:C180851", "SNOMEDCT:733600007", "medgen:1377817"], "information_content": 100.0}
{"id": "MONDO:0007572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary familial polycythemia due to EPO receptor mutation", "equivalent_identifiers": ["MONDO:0007572", "DOID:0060652", "OMIM:133100", "orphanet:90042", "UMLS:C4551637", "MESH:C536842", "SNOMEDCT:17342003", "medgen:1641215", "icd11.foundation:962836252", "ICD10:D75.0"], "information_content": 100.0}
{"id": "HP:0002641", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral thrombosis", "equivalent_identifiers": ["HP:0002641", "UMLS:C1849749"], "information_content": 100.0}
{"id": "HP:0001050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plethora", "equivalent_identifiers": ["HP:0001050", "UMLS:C0232370", "SNOMEDCT:75246004"], "information_content": 100.0}
{"id": "MONDO:0013974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 6, hair/nail type", "equivalent_identifiers": ["MONDO:0013974", "DOID:0111659", "OMIM:614928", "UMLS:C3554111", "medgen:767025"], "information_content": 100.0}
{"id": "HP:0012746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin toenail", "equivalent_identifiers": ["HP:0012746", "UMLS:C3554113"], "information_content": 100.0}
{"id": "MONDO:0010931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D-dependent rickets, type 2B", "equivalent_identifiers": ["MONDO:0010931", "DOID:0080885", "OMIM:600785", "UMLS:C0342647", "UMLS:C2748783", "MESH:C567571", "NCIT:C131076", "SNOMEDCT:237895001", "medgen:411667"], "information_content": 100.0}
{"id": "HP:0006463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rickets of the lower limbs", "equivalent_identifiers": ["HP:0006463", "UMLS:C1833323"], "information_content": 100.0}
{"id": "MONDO:0957541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hypotonia and speech delay, with or without seizures", "equivalent_identifiers": ["MONDO:0957541", "DOID:0070512", "OMIM:620455", "UMLS:C5830654", "medgen:1841290"], "information_content": 100.0}
{"id": "HP:5200310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminishment of social interactions", "equivalent_identifiers": ["HP:5200310", "UMLS:C5872997"], "information_content": 88.2}
{"id": "MONDO:0007706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cavernous hemangiomas of face-supraumbilical midline raphe syndrome", "equivalent_identifiers": ["MONDO:0007706", "OMIM:140850", "UMLS:C0472694", "MESH:C538144", "SNOMEDCT:234140000", "medgen:99171"], "information_content": 100.0}
{"id": "MONDO:0012522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus, transient neonatal, 3", "equivalent_identifiers": ["MONDO:0012522", "OMIM:610582", "UMLS:C1864623", "MESH:C566432", "SNOMEDCT:609581006", "medgen:351177"], "information_content": 100.0}
{"id": "MONDO:0010933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 4", "equivalent_identifiers": ["MONDO:0010933", "DOID:0110498", "OMIM:600791", "UMLS:C3538946", "MESH:C566366", "NCIT:C158787", "medgen:761234"], "information_content": 100.0}
{"id": "MONDO:0008772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 2A1", "equivalent_identifiers": ["MONDO:0008772", "DOID:0110057", "OMIM:204700", "UMLS:C1290537", "UMLS:C2673922", "MESH:C538242", "MESH:C567146", "SNOMEDCT:109474009", "medgen:436039"], "information_content": 100.0}
{"id": "MONDO:0009582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mietens syndrome", "equivalent_identifiers": ["MONDO:0009582", "OMIM:249600", "orphanet:2557", "UMLS:C0265249", "MESH:C537444", "SNOMEDCT:40291001", "medgen:82695", "icd11.foundation:1399358623"], "information_content": 100.0}
{"id": "HP:0005093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent proximal radial epiphyses", "equivalent_identifiers": ["HP:0005093", "UMLS:C1855301"], "information_content": 100.0}
{"id": "MONDO:0013565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group G", "equivalent_identifiers": ["MONDO:0013565", "DOID:0111086", "OMIM:614082", "EFO:0009046", "UMLS:C3469527", "NCIT:C125708", "medgen:854017"], "information_content": 92.8}
{"id": "MONDO:0957225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities", "equivalent_identifiers": ["MONDO:0957225", "OMIM:620327", "UMLS:C5830433", "medgen:1841069"], "information_content": 100.0}
{"id": "MONDO:0033043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy", "equivalent_identifiers": ["MONDO:0033043", "DOID:0080252", "OMIM:617560", "orphanet:527497", "UMLS:C4479653", "SNOMEDCT:1217379007", "medgen:1382553"], "information_content": 100.0}
{"id": "MONDO:0032851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with impaired language and dysmorphic facies", "equivalent_identifiers": ["MONDO:0032851", "OMIM:618653", "EFO:0010651", "UMLS:C5231444", "medgen:1684804"], "information_content": 100.0}
{"id": "MONDO:0014155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 13", "equivalent_identifiers": ["MONDO:0014155", "OMIM:615377", "UMLS:C3809311", "medgen:815641"], "information_content": 100.0}
{"id": "MONDO:0013379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 7", "equivalent_identifiers": ["MONDO:0013379", "DOID:0060585", "OMIM:613706", "UMLS:C3150970", "NCIT:C176935", "medgen:462320"], "information_content": 100.0}
{"id": "HP:0002031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal esophagus morphology", "equivalent_identifiers": ["HP:0002031", "UMLS:C0266126", "MEDDRA:10010563", "MEDDRA:10055452", "MEDDRA:10061069", "SNOMEDCT:69771008"], "information_content": 73.8}
{"id": "MONDO:0023619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lentigo maligna melanoma", "equivalent_identifiers": ["MONDO:0023619", "UMLS:C2739810", "MEDDRA:10024219", "NCIT:C9151", "SNOMEDCT:302837001", "SNOMEDCT:44474009", "medgen:439437", "icd11.foundation:2011782924", "HP:0012059"], "information_content": 88.2}
{"id": "HP:0000306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the chin", "equivalent_identifiers": ["HP:0000306", "UMLS:C4025864"], "information_content": 80.9}
{"id": "MONDO:0013553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 2", "equivalent_identifiers": ["MONDO:0013553", "DOID:0090009", "OMIM:614069", "UMLS:C3279748", "medgen:481378"], "information_content": 100.0}
{"id": "MONDO:0013103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 10", "equivalent_identifiers": ["MONDO:0013103", "OMIM:613060", "UMLS:C2751603", "UMLS:C3150399", "medgen:414062"], "information_content": 100.0}
{"id": "MONDO:0008889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buerger Disease", "equivalent_identifiers": ["MONDO:0008889", "DOID:12918", "OMIM:211480", "orphanet:36258", "EFO:1001211", "UMLS:C0040021", "MESH:D013919", "MEDDRA:10006538", "MEDDRA:10017722", "MEDDRA:10043540", "MEDDRA:10043541", "NCIT:C35070", "SNOMEDCT:195299000", "SNOMEDCT:52403007", "medgen:21531", "icd11.foundation:1000683110", "ICD10:I73.1", "ICD9:443.1"], "information_content": 100.0}
{"id": "MONDO:0014170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 3", "equivalent_identifiers": ["MONDO:0014170", "DOID:0090134", "OMIM:615411", "UMLS:C3809414", "medgen:815744"], "information_content": 100.0}
{"id": "MONDO:0014501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular degeneration, early-onset", "equivalent_identifiers": ["MONDO:0014501", "OMIM:616118", "UMLS:C4015286", "medgen:863723"], "information_content": 100.0}
{"id": "MONDO:0011759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hurler-Scheie syndrome", "equivalent_identifiers": ["MONDO:0011759", "DOID:0111389", "OMIM:607015", "orphanet:93476", "UMLS:C0086431", "MEDDRA:10056887", "MEDDRA:10056916", "NCIT:C122782", "SNOMEDCT:26745009", "medgen:88566", "ICD10:E76.02"], "information_content": 100.0}
{"id": "HP:0046505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand pain", "equivalent_identifiers": ["HP:0046505", "UMLS:C0239833", "MEDDRA:10019116", "MEDDRA:10033430", "MEDDRA:10033508", "SNOMEDCT:53057004"], "information_content": 92.8}
{"id": "MONDO:0029135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8", "equivalent_identifiers": ["MONDO:0029135", "DOID:0112382", "OMIM:618135", "UMLS:C4748320", "medgen:1648468"], "information_content": 100.0}
{"id": "MONDO:0009121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "von Voss-Cherstvoy syndrome", "equivalent_identifiers": ["MONDO:0009121", "OMIM:223340", "orphanet:3439", "UMLS:C1857226", "MESH:C565618", "SNOMEDCT:719021005", "medgen:341728"], "information_content": 100.0}
{"id": "MONDO:0008290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis 1, Mibelli type", "equivalent_identifiers": ["MONDO:0008290", "OMIM:175800"], "information_content": 100.0}
{"id": "MONDO:0007392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coxoauricular syndrome", "equivalent_identifiers": ["MONDO:0007392", "OMIM:122780", "orphanet:1508", "UMLS:C1852513", "MESH:C565148", "SNOMEDCT:732248005", "medgen:343827", "icd11.foundation:649449912"], "information_content": 100.0}
{"id": "MONDO:0013114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 50", "equivalent_identifiers": ["MONDO:0013114", "DOID:0110576", "OMIM:613074", "UMLS:C3888123", "medgen:854780"], "information_content": 100.0}
{"id": "MONDO:0008526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "talonavicular coalition", "equivalent_identifiers": ["MONDO:0008526", "OMIM:186750", "UMLS:C1861296", "MESH:C536895", "medgen:350002"], "information_content": 100.0}
{"id": "HP:0005802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coalescence of tarsal bones", "equivalent_identifiers": ["HP:0005802", "UMLS:C4025130"], "information_content": 100.0}
{"id": "HP:0003028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the ankle", "equivalent_identifiers": ["HP:0003028", "UMLS:C4025660"], "information_content": 71.5}
{"id": "MONDO:0014148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "estrogen resistance syndrome", "equivalent_identifiers": ["MONDO:0014148", "OMIM:615363", "orphanet:785", "UMLS:C3809250", "UMLS:C4510972", "SNOMEDCT:724555000", "medgen:815580", "icd11.foundation:1267163286"], "information_content": 100.0}
{"id": "HP:0025134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum estradiol", "equivalent_identifiers": ["HP:0025134", "UMLS:C1295643", "SNOMEDCT:131065003"], "information_content": 100.0}
{"id": "MONDO:0013384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease, susceptibility to, 4", "equivalent_identifiers": ["MONDO:0013384", "OMIM:613712", "UMLS:C3150975", "medgen:462325"], "information_content": 100.0}
{"id": "MONDO:0033092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis, congenital, autosomal recessive 13", "equivalent_identifiers": ["MONDO:0033092", "DOID:0080257", "OMIM:617574", "UMLS:C4539772", "medgen:1620886"], "information_content": 100.0}
{"id": "MONDO:0024535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Singleton-Merten syndrome 1", "equivalent_identifiers": ["MONDO:0024535", "OMIM:182250", "UMLS:C4225427", "medgen:899946"], "information_content": 100.0}
{"id": "HP:0006353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the tooth germ", "equivalent_identifiers": ["HP:0006353", "UMLS:C4025055"], "information_content": 100.0}
{"id": "HP:0006232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Expanded metacarpals with widened medullary cavities", "equivalent_identifiers": ["HP:0006232", "UMLS:C1969288"], "information_content": 100.0}
{"id": "HP:0006112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Expanded phalanges with widened medullary cavities", "equivalent_identifiers": ["HP:0006112", "UMLS:C1969287"], "information_content": 100.0}
{"id": "HP:0005303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aortic arch calcification", "equivalent_identifiers": ["HP:0005303", "UMLS:C1969291"], "information_content": 95.4}
{"id": "HP:0006386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic distal radial epiphyses", "equivalent_identifiers": ["HP:0006386", "UMLS:C1969286"], "information_content": 100.0}
{"id": "HP:0008102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Expanded metatarsals with widened medullary cavities", "equivalent_identifiers": ["HP:0008102", "UMLS:C1969289"], "information_content": 100.0}
{"id": "MONDO:0012622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "equivalent_identifiers": ["MONDO:0012622", "OMIM:611105", "orphanet:137898", "UMLS:C1970180", "MESH:C567009", "NCIT:C188991", "SNOMEDCT:703537008", "SNOMEDCT:735421004", "medgen:370845"], "information_content": 100.0}
{"id": "MONDO:0011031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 10", "equivalent_identifiers": ["MONDO:0011031", "DOID:0110542", "OMIM:601316", "UMLS:C1832476", "MESH:C563354", "medgen:321966"], "information_content": 100.0}
{"id": "MONDO:0008535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telangiectasia, hereditary hemorrhagic, type 1", "equivalent_identifiers": ["MONDO:0008535", "OMIM:187300", "UMLS:C4551861", "medgen:1643786"], "information_content": 100.0}
{"id": "MONDO:0013548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acetyl-CoA acetyltransferase-2 deficiency", "equivalent_identifiers": ["MONDO:0013548", "OMIM:614055", "UMLS:C0342735", "MESH:C536005", "SNOMEDCT:237955004", "medgen:90995"], "information_content": 100.0}
{"id": "MONDO:0011332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin", "equivalent_identifiers": ["MONDO:0011332", "OMIM:603529", "UMLS:C3807235", "medgen:813565"], "information_content": 100.0}
{"id": "HP:0032566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oval macrocytosis", "equivalent_identifiers": ["HP:0032566", "UMLS:C5209286"], "information_content": 100.0}
{"id": "MONDO:0011673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 30", "equivalent_identifiers": ["MONDO:0011673", "DOID:0110560", "OMIM:606451", "UMLS:C1847972", "MESH:C564706", "medgen:341116"], "information_content": 100.0}
{"id": "HP:0005759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small flat posterior fossa", "equivalent_identifiers": ["HP:0005759", "UMLS:C4025141"], "information_content": 100.0}
{"id": "MONDO:0030978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ENDOVE syndrome, limb-only type", "equivalent_identifiers": ["MONDO:0030978", "OMIM:619217", "UMLS:C5543128", "medgen:1787128"], "information_content": 100.0}
{"id": "HP:0033976", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Volar fingernail", "equivalent_identifiers": ["HP:0033976", "UMLS:C5558365"], "information_content": 100.0}
{"id": "MONDO:0010127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymoma, familial", "equivalent_identifiers": ["MONDO:0010127", "OMIM:274230", "UMLS:C1848814", "MESH:C564767", "medgen:376447"], "information_content": 100.0}
{"id": "MONDO:0008464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split hand-foot malformation 1", "equivalent_identifiers": ["MONDO:0008464", "DOID:0090021", "OMIM:183600", "UMLS:C2931019", "NCIT:C75045", "medgen:419314", "ICD10:Q71.6"], "information_content": 100.0}
{"id": "MONDO:0020850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 65", "equivalent_identifiers": ["MONDO:0020850", "DOID:0081226", "OMIM:618109", "UMLS:C4748219", "medgen:1648401"], "information_content": 100.0}
{"id": "MONDO:0013870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TMEM165-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013870", "DOID:0070263", "OMIM:614727", "orphanet:314667", "UMLS:C3553571", "SNOMEDCT:732252005", "medgen:766485"], "information_content": 100.0}
{"id": "MONDO:0012876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heparin cofactor 2 deficiency", "equivalent_identifiers": ["MONDO:0012876", "DOID:0111901", "OMIM:612356", "UMLS:C0398626", "MESH:C562865", "MEDDRA:10087332", "SNOMEDCT:234468009", "medgen:96017"], "information_content": 100.0}
{"id": "HP:0004761", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Post-angioplasty coronary artery restenosis", "equivalent_identifiers": ["HP:0004761", "UMLS:C2676505"], "information_content": 100.0}
{"id": "MONDO:0014189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 13", "equivalent_identifiers": ["MONDO:0014189", "DOID:0110025", "OMIM:615439", "UMLS:C3809523", "NCIT:C187704", "medgen:815853"], "information_content": 100.0}
{"id": "MONDO:0030939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 18", "equivalent_identifiers": ["MONDO:0030939", "DOID:0112269", "OMIM:619203", "UMLS:C5543095", "medgen:1785989"], "information_content": 100.0}
{"id": "MONDO:0957576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development", "equivalent_identifiers": ["MONDO:0957576", "DOID:0070486", "OMIM:620482", "UMLS:C5882680", "medgen:1845571"], "information_content": 100.0}
{"id": "MONDO:0012446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seborrhea-like dermatitis with psoriasiform elements", "equivalent_identifiers": ["MONDO:0012446", "OMIM:610227", "orphanet:168606", "UMLS:C1853258", "MESH:C565217", "SNOMEDCT:782910009", "medgen:342832"], "information_content": 100.0}
{"id": "MONDO:0011672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent polyclonal B-cell lymphocytosis", "equivalent_identifiers": ["MONDO:0011672", "OMIM:606445", "orphanet:300324", "UMLS:C1847973", "MESH:C564707", "SNOMEDCT:763864008", "medgen:341117"], "information_content": 100.0}
{"id": "MONDO:0030455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 31", "equivalent_identifiers": ["MONDO:0030455", "DOID:0060938", "OMIM:619565", "UMLS:C5562001", "medgen:1794211"], "information_content": 100.0}
{"id": "MONDO:0016163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 7", "equivalent_identifiers": ["MONDO:0016163", "DOID:0050958", "OMIM:164500", "orphanet:208508", "orphanet:94147", "UMLS:C0752125", "UMLS:C5848204", "NCIT:C126562", "SNOMEDCT:1156796002", "SNOMEDCT:715726000", "medgen:156006"], "information_content": 100.0}
{"id": "MONDO:0007241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bundle branch block, familial isolated complete right", "equivalent_identifiers": ["MONDO:0007241", "OMIM:113950", "UMLS:C0340504", "MESH:C562759", "SNOMEDCT:233919006", "medgen:83311"], "information_content": 100.0}
{"id": "MONDO:0007628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foveal hypoplasia 1", "equivalent_identifiers": ["MONDO:0007628", "DOID:0070530", "OMIM:136520", "UMLS:C3805604", "medgen:811934"], "information_content": 100.0}
{"id": "HP:0002287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive alopecia", "equivalent_identifiers": ["HP:0002287", "UMLS:C1851885"], "information_content": 100.0}
{"id": "HP:0200141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small, conical teeth", "equivalent_identifiers": ["HP:0200141", "UMLS:C1851883", "UMLS:C4280284", "UMLS:C4280285"], "information_content": 100.0}
{"id": "MONDO:0012097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis 2, autosomal recessive", "equivalent_identifiers": ["MONDO:0012097", "DOID:0112362", "OMIM:608681", "UMLS:C1837549", "medgen:332481"], "information_content": 100.0}
{"id": "MONDO:0032779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly and structural brain anomalies", "equivalent_identifiers": ["MONDO:0032779", "OMIM:618492", "UMLS:C5193123", "medgen:1677276"], "information_content": 100.0}
{"id": "MONDO:0010423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypospadias 2, X-linked", "equivalent_identifiers": ["MONDO:0010423", "OMIM:300758", "UMLS:C2677879", "MESH:C567462", "medgen:437064"], "information_content": 100.0}
{"id": "MONDO:0024550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontometaphyseal dysplasia 1", "equivalent_identifiers": ["MONDO:0024550", "DOID:0111786", "OMIM:305620", "UMLS:C4281559", "medgen:923943"], "information_content": 100.0}
{"id": "HP:0008097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial fusion of tarsals", "equivalent_identifiers": ["HP:0008097", "UMLS:C1844520"], "information_content": 100.0}
{"id": "HP:0004608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anteriorly placed odontoid process", "equivalent_identifiers": ["HP:0004608", "UMLS:C1844512"], "information_content": 100.0}
{"id": "HP:0006665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coat hanger sign of ribs", "equivalent_identifiers": ["HP:0006665", "UMLS:C4025010"], "information_content": 100.0}
{"id": "HP:0006207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial fusion of carpals", "equivalent_identifiers": ["HP:0006207", "UMLS:C1844519"], "information_content": 100.0}
{"id": "HP:0006440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased density of long bone diaphyses", "equivalent_identifiers": ["HP:0006440", "UMLS:C1844516"], "information_content": 95.4}
{"id": "MONDO:0009669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, type 1", "equivalent_identifiers": ["MONDO:0009669", "DOID:13137", "OMIM:253300", "orphanet:83330", "UMLS:C0043116", "UMLS:C5848259", "MEDDRA:10047910", "MEDDRA:10079413", "MEDDRA:10079417", "NCIT:C98670", "SNOMEDCT:64383006", "medgen:1845578", "icd11.foundation:915903258", "ICD10:G12.0", "ICD9:335.0"], "information_content": 100.0}
{"id": "MONDO:0011160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 15", "equivalent_identifiers": ["MONDO:0011160", "DOID:0110470", "OMIM:601869", "UMLS:C1866094", "MESH:C566611", "medgen:355626"], "information_content": 100.0}
{"id": "MONDO:0008707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acro-renal-mandibular syndrome", "equivalent_identifiers": ["MONDO:0008707", "OMIM:200980", "orphanet:958", "UMLS:C1860166", "MESH:C535665", "SNOMEDCT:720414005", "medgen:395425", "icd11.foundation:879242648"], "information_content": 100.0}
{"id": "HP:0008468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sacral segmentation", "equivalent_identifiers": ["HP:0008468", "UMLS:C1968942"], "information_content": 100.0}
{"id": "HP:0006426", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rudimentary to absent tibiae", "equivalent_identifiers": ["HP:0006426", "UMLS:C1968943"], "information_content": 95.4}
{"id": "MONDO:0971008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis, hereditary systemic 3", "equivalent_identifiers": ["MONDO:0971008", "OMIM:620657", "UMLS:C4551500", "SNOMEDCT:9133005", "medgen:1635231"], "information_content": 100.0}
{"id": "MONDO:0014361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism spectrum disorder due to AUTS2 deficiency", "equivalent_identifiers": ["MONDO:0014361", "DOID:0070056", "OMIM:615834", "orphanet:352490", "UMLS:C4014435", "medgen:862872"], "information_content": 100.0}
{"id": "HP:0025112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Auditory sensitivity", "equivalent_identifiers": ["HP:0025112", "UMLS:C5848378"], "information_content": 100.0}
{"id": "MONDO:0011216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 2A", "equivalent_identifiers": ["MONDO:0011216", "DOID:0111027", "OMIM:602390", "UMLS:C1865614", "medgen:356321"], "information_content": 100.0}
{"id": "MONDO:0013672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q25 deletion syndrome", "equivalent_identifiers": ["MONDO:0013672", "DOID:0060396", "OMIM:614294", "UMLS:C3280355", "medgen:481985"], "information_content": 100.0}
{"id": "HP:0100581", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megacalicosis", "equivalent_identifiers": ["HP:0100581", "UMLS:C1269700", "UMLS:C4022019", "SNOMEDCT:371011007"], "information_content": 100.0}
{"id": "MONDO:0014659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile liver failure syndrome 2", "equivalent_identifiers": ["MONDO:0014659", "OMIM:616483", "UMLS:C3809651", "NCIT:C158135", "medgen:815981"], "information_content": 100.0}
{"id": "MONDO:0859317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism, type IB2, autosomal recessive", "equivalent_identifiers": ["MONDO:0859317", "OMIM:620125", "UMLS:C5774255", "medgen:1824028"], "information_content": 100.0}
{"id": "MONDO:0010424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "surfactant metabolism dysfunction, pulmonary, 4", "equivalent_identifiers": ["MONDO:0010424", "OMIM:300770", "UMLS:C2677877", "MESH:C567461", "medgen:393858"], "information_content": 100.0}
{"id": "MONDO:0054782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 15", "equivalent_identifiers": ["MONDO:0054782", "DOID:0070398", "OMIM:617951", "UMLS:C4693733", "medgen:1633653"], "information_content": 100.0}
{"id": "MONDO:0003227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prosopagnosia", "equivalent_identifiers": ["MONDO:0003227", "DOID:4970", "UMLS:C0234512", "MESH:D020238", "MEDDRA:10073980", "NCIT:C85031", "SNOMEDCT:18358003", "medgen:65884", "icd11.foundation:858616900", "ICD10:R48.3", "HP:0010528"], "information_content": 92.8}
{"id": "MONDO:0009722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bailey-Bloch congenital myopathy", "equivalent_identifiers": ["MONDO:0009722", "DOID:0060346", "OMIM:255995", "orphanet:168572", "UMLS:C1850625", "MESH:C538343", "SNOMEDCT:723439002", "medgen:340586"], "information_content": 100.0}
{"id": "HP:0005775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple skeletal anomalies", "equivalent_identifiers": ["HP:0005775", "UMLS:C4025138"], "information_content": 100.0}
{"id": "MONDO:0008130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome", "equivalent_identifiers": ["MONDO:0008130", "OMIM:165150", "orphanet:2743", "UMLS:C1833835", "MESH:C563498", "medgen:318972"], "information_content": 100.0}
{"id": "MONDO:0013665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, juvenile myoclonic, susceptibility to, 9", "equivalent_identifiers": ["MONDO:0013665", "DOID:0111328", "OMIM:614280", "UMLS:C3280332", "medgen:481962"], "information_content": 100.0}
{"id": "HP:0031285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal perifollicular morphology", "equivalent_identifiers": ["HP:0031285", "UMLS:C4531226"], "information_content": 90.9}
{"id": "MONDO:0008570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyrotoxic periodic paralysis, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0008570", "OMIM:188580", "UMLS:C2749982", "medgen:413199"], "information_content": 100.0}
{"id": "MONDO:0008923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive palmoplantar keratoderma and congenital alopecia", "equivalent_identifiers": ["MONDO:0008923", "DOID:0111245", "OMIM:212360", "orphanet:1366", "UMLS:C1859316", "MESH:C535336", "medgen:347851", "icd11.foundation:1733151457"], "information_content": 100.0}
{"id": "MONDO:0010903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis, Adelaide type", "equivalent_identifiers": ["MONDO:0010903", "OMIM:600593", "UMLS:C1833578", "MESH:C563471", "medgen:371600"], "information_content": 100.0}
{"id": "HP:0005776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpal bone malsegmentation", "equivalent_identifiers": ["HP:0005776", "UMLS:C4025137"], "information_content": 100.0}
{"id": "HP:0010164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the toes", "equivalent_identifiers": ["HP:0010164", "UMLS:C4023995"], "information_content": 80.2}
{"id": "MONDO:0007334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant popliteal pterygium syndrome", "equivalent_identifiers": ["MONDO:0007334", "OMIM:119500", "orphanet:1300", "UMLS:C5848052", "SNOMEDCT:718222000", "medgen:1844082", "icd11.foundation:2069589860"], "information_content": 100.0}
{"id": "HP:0009754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibrous syngnathia", "equivalent_identifiers": ["HP:0009754", "UMLS:C4021392"], "information_content": 95.4}
{"id": "HP:0009758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyramidal skinfold extending from the base to the top of the nails", "equivalent_identifiers": ["HP:0009758", "UMLS:C4024212"], "information_content": 100.0}
{"id": "MONDO:0014860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic liver disease 2", "equivalent_identifiers": ["MONDO:0014860", "DOID:0060975", "OMIM:617004", "UMLS:C4310769", "medgen:934736"], "information_content": 100.0}
{"id": "MONDO:0011123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus 15", "equivalent_identifiers": ["MONDO:0011123", "DOID:0110753", "OMIM:601666", "UMLS:C1866519", "MESH:C566645", "medgen:401019"], "information_content": 100.0}
{"id": "MONDO:0007943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nager syndrome", "equivalent_identifiers": ["MONDO:0007943", "DOID:5768", "OMIM:154400", "orphanet:245", "UMLS:C0265245", "MESH:C538184", "MEDDRA:10084410", "SNOMEDCT:35520007", "medgen:120519"], "information_content": 100.0}
{"id": "MONDO:0009209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive faciodigitogenital syndrome", "equivalent_identifiers": ["MONDO:0009209", "OMIM:227330", "orphanet:1974", "UMLS:C1856871", "SNOMEDCT:725434009", "medgen:341637"], "information_content": 100.0}
{"id": "MONDO:0009194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 32B", "equivalent_identifiers": ["MONDO:0009194", "DOID:0111985", "OMIM:226990", "orphanet:2566", "UMLS:C4016741", "UMLS:C4751209", "SNOMEDCT:773738009", "medgen:865178"], "information_content": 100.0}
{"id": "HP:0012138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Granulocytic hyperplasia", "equivalent_identifiers": ["HP:0012138", "UMLS:C4023028"], "information_content": 100.0}
{"id": "MONDO:0010492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary adenoma, growth hormone-secreting, 2", "equivalent_identifiers": ["MONDO:0010492", "DOID:0112007", "OMIM:300943", "UMLS:C4012409", "medgen:860846"], "information_content": 100.0}
{"id": "MONDO:0032758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia", "equivalent_identifiers": ["MONDO:0032758", "OMIM:618451", "UMLS:C5193104", "medgen:1676579"], "information_content": 100.0}
{"id": "MONDO:0044718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alkaline ceramidase 3 deficiency", "equivalent_identifiers": ["MONDO:0044718", "OMIM:617762", "orphanet:502444", "UMLS:C4540358", "SNOMEDCT:1237515001", "medgen:1622324"], "information_content": 100.0}
{"id": "MONDO:0033004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 4", "equivalent_identifiers": ["MONDO:0033004", "DOID:0080212", "OMIM:263200", "UMLS:C4540575", "medgen:1621793"], "information_content": 100.0}
{"id": "MONDO:0014652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 6", "equivalent_identifiers": ["MONDO:0014652", "DOID:0111410", "OMIM:616468", "UMLS:C4225316", "medgen:902559"], "information_content": 100.0}
{"id": "HP:0007791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy atrophy of the retinal pigment epithelium", "equivalent_identifiers": ["HP:0007791", "UMLS:C4024800"], "information_content": 100.0}
{"id": "MONDO:0012652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2L", "equivalent_identifiers": ["MONDO:0012652", "DOID:0110284", "OMIM:611307", "orphanet:206549", "UMLS:C1969785", "MESH:C566968", "SNOMEDCT:726616006", "medgen:370102"], "information_content": 100.0}
{"id": "MONDO:0010496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-short stature-overweight syndrome", "equivalent_identifiers": ["MONDO:0010496", "DOID:0112056", "OMIM:300957", "orphanet:457240", "UMLS:C0796218", "medgen:901885"], "information_content": 100.0}
{"id": "MONDO:0031028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 105 with hypopituitarism", "equivalent_identifiers": ["MONDO:0031028", "DOID:0070391", "OMIM:619983", "UMLS:C5774190", "medgen:1823963"], "information_content": 100.0}
{"id": "HP:0011195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with focal sharp slow waves", "equivalent_identifiers": ["HP:0011195", "UMLS:C4023479"], "information_content": 88.2}
{"id": "MONDO:0012395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 18", "equivalent_identifiers": ["MONDO:0012395", "DOID:0110238", "OMIM:610019", "UMLS:C1864908", "MESH:C535337", "medgen:351249"], "information_content": 100.0}
{"id": "MONDO:0011858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia, ataxia, and intellectual disability", "equivalent_identifiers": ["MONDO:0011858", "OMIM:607565", "UMLS:C1843661", "MESH:C564378", "medgen:336010"], "information_content": 100.0}
{"id": "MONDO:0014276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to CD3gamma deficiency", "equivalent_identifiers": ["MONDO:0014276", "DOID:0060018", "DOID:0111973", "OMIM:615607", "orphanet:169082", "UMLS:C3810107", "UMLS:C4510864", "SNOMEDCT:725135004", "medgen:816437"], "information_content": 100.0}
{"id": "HP:0041063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic decreased circulating IgG2", "equivalent_identifiers": ["HP:0041063", "UMLS:C5421695"], "information_content": 92.8}
{"id": "MONDO:0009974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis type 1", "equivalent_identifiers": ["MONDO:0009974", "DOID:0110921", "OMIM:267700", "UMLS:C4551514", "NCIT:C61276", "medgen:1642840"], "information_content": 83.1}
{"id": "MONDO:0008593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichomegaly", "equivalent_identifiers": ["MONDO:0008593", "OMIM:190330", "UMLS:C0854699", "MEDDRA:10044613", "medgen:163139"], "information_content": 95.4}
{"id": "MONDO:0032675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenic syndrome, congenital, 25, presynaptic", "equivalent_identifiers": ["MONDO:0032675", "OMIM:618323", "UMLS:C5193027", "medgen:1683288"], "information_content": 100.0}
{"id": "MONDO:0009879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature due to growth hormone qualitative anomaly", "equivalent_identifiers": ["MONDO:0009879", "OMIM:262650", "orphanet:629", "UMLS:C1849779", "MESH:C537505", "medgen:340412", "icd11.foundation:1665498704"], "information_content": 100.0}
{"id": "MONDO:0011973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "zinc deficiency, transient neonatal", "equivalent_identifiers": ["MONDO:0011973", "OMIM:608118", "UMLS:C1842485", "UMLS:C1842486", "MESH:C564286", "medgen:330858"], "information_content": 100.0}
{"id": "MONDO:0014588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 11", "equivalent_identifiers": ["MONDO:0014588", "DOID:0110675", "OMIM:616326", "UMLS:C1837094", "UMLS:C4225367", "MESH:C563831", "NCIT:C177546", "medgen:902189"], "information_content": 100.0}
{"id": "MONDO:0030692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 95", "equivalent_identifiers": ["MONDO:0030692", "DOID:0061065", "OMIM:619773", "UMLS:C5676929", "medgen:1802205"], "information_content": 100.0}
{"id": "HP:0032297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgG3 level", "equivalent_identifiers": ["HP:0032297", "UMLS:C5139254"], "information_content": 100.0}
{"id": "HP:0033214", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent viral pneumonia", "equivalent_identifiers": ["HP:0033214", "UMLS:C5421686"], "information_content": 100.0}
{"id": "HP:0032137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating IgG3 concentration", "equivalent_identifiers": ["HP:0032137", "UMLS:C5139155"], "information_content": 89.4}
{"id": "MONDO:0012301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome, myopathic form", "equivalent_identifiers": ["MONDO:0012301", "DOID:0080120", "OMIM:609560", "orphanet:254875", "UMLS:C3149750", "UMLS:C3501891", "MESH:C563698", "NCIT:C185236", "SNOMEDCT:703527003", "medgen:461100", "icd11.foundation:294556832"], "information_content": 100.0}
{"id": "MONDO:0012399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 7", "equivalent_identifiers": ["MONDO:0012399", "DOID:0090132", "OMIM:610031", "orphanet:300573", "UMLS:C3552236", "medgen:765150"], "information_content": 100.0}
{"id": "MONDO:0017092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "unilateral polymicrogyria", "equivalent_identifiers": ["MONDO:0017092", "orphanet:268943", "UMLS:C4024960", "SNOMEDCT:715905006", "medgen:870513", "icd11.foundation:782302128", "HP:0006927"], "information_content": 92.8}
{"id": "HP:0006930", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontoparietal cortical dysplasia", "equivalent_identifiers": ["HP:0006930", "UMLS:C4024959"], "information_content": 100.0}
{"id": "MONDO:0008092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary neutrophilia", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008092", "DOID:0090120", "OMIM:162830", "orphanet:279943", "UMLS:C0543669", "MESH:C563010", "SNOMEDCT:129639005", "medgen:154252"], "information_content": 100.0}
{"id": "HP:0008318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated leukocyte alkaline phosphatase", "equivalent_identifiers": ["HP:0008318", "UMLS:C4024704"], "information_content": 100.0}
{"id": "MONDO:0013658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 11", "equivalent_identifiers": ["MONDO:0013658", "DOID:0070041", "OMIM:614257", "UMLS:C3280285", "medgen:481915"], "information_content": 100.0}
{"id": "HP:0001775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tarsal osteovalgus", "equivalent_identifiers": ["HP:0001775", "UMLS:C4025748"], "information_content": 100.0}
{"id": "MONDO:0009956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "red skin pigment anomaly of new guinea", "equivalent_identifiers": ["MONDO:0009956", "OMIM:266350", "UMLS:C1849451", "MESH:C535515", "medgen:341457"], "information_content": 100.0}
{"id": "MONDO:0012964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q26-qter deletion syndrome", "equivalent_identifiers": ["MONDO:0012964", "DOID:0060397", "OMIM:612626", "orphanet:1596", "UMLS:C2675463", "UMLS:C4707662", "MESH:C567232", "SNOMEDCT:766050000", "medgen:390804"], "information_content": 100.0}
{"id": "MONDO:0007953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Binder syndrome", "equivalent_identifiers": ["MONDO:0007953", "DOID:14683", "OMIM:155050", "orphanet:1248", "UMLS:C0220692", "MESH:C536036", "MEDDRA:10075843", "MEDDRA:10075844", "SNOMEDCT:715985008", "medgen:66318"], "information_content": 100.0}
{"id": "HP:0004609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy distortion of vertebrae", "equivalent_identifiers": ["HP:0004609", "UMLS:C4025305"], "information_content": 100.0}
{"id": "MONDO:0030690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6", "equivalent_identifiers": ["MONDO:0030690", "OMIM:619767", "UMLS:C5676927", "medgen:1805650"], "information_content": 100.0}
{"id": "MONDO:0060713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, congenital heart defects, and posterior embryotoxon", "equivalent_identifiers": ["MONDO:0060713", "OMIM:617992", "UMLS:C1866053", "MESH:C566604", "medgen:355614"], "information_content": 100.0}
{"id": "MONDO:0032774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar, ocular, craniofacial, and genital syndrome", "equivalent_identifiers": ["MONDO:0032774", "OMIM:618479", "UMLS:C5193118", "medgen:1680057"], "information_content": 100.0}
{"id": "MONDO:0958023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy, congenital generalized, type 5", "equivalent_identifiers": ["MONDO:0958023", "OMIM:620680", "UMLS:C5882745", "medgen:1847991"], "information_content": 100.0}
{"id": "HP:0030685", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased adiponectin level", "equivalent_identifiers": ["HP:0030685", "UMLS:C4073127"], "information_content": 100.0}
{"id": "HP:0041079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased body fat percentage", "equivalent_identifiers": ["HP:0041079", "UMLS:C5421709"], "information_content": 100.0}
{"id": "MONDO:0012549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive ataxia, Beauce type", "equivalent_identifiers": ["MONDO:0012549", "DOID:0111618", "OMIM:610743", "orphanet:88644", "UMLS:C1853116", "MESH:C565188", "medgen:343973"], "information_content": 100.0}
{"id": "MONDO:0011214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial intrahepatic cholestasis type 3", "equivalent_identifiers": ["MONDO:0011214", "DOID:0070223", "OMIM:602347", "orphanet:79305", "UMLS:C1865643", "MESH:C535935", "SNOMEDCT:1186865008", "medgen:356333", "icd11.foundation:1276600959"], "information_content": 100.0}
{"id": "MONDO:0011553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 26", "equivalent_identifiers": ["MONDO:0011553", "DOID:0110484", "OMIM:605428", "UMLS:C1854275", "MESH:C565329", "medgen:340185"], "information_content": 100.0}
{"id": "MONDO:0011964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DPAGT1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011964", "DOID:0080562", "OMIM:608093", "orphanet:86309", "UMLS:C2931004", "MESH:C535748", "NCIT:C126874", "SNOMEDCT:725079003", "medgen:419694"], "information_content": 100.0}
{"id": "MONDO:0032653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac-urogenital syndrome", "equivalent_identifiers": ["MONDO:0032653", "OMIM:618280", "orphanet:647811", "UMLS:C4748946", "SNOMEDCT:1332387008", "medgen:1648333"], "information_content": 100.0}
{"id": "HP:0410259", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatopulmonary fusion", "equivalent_identifiers": ["HP:0410259", "UMLS:C4748952"], "information_content": 100.0}
{"id": "MONDO:0008210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patterned macular dystrophy 1", "equivalent_identifiers": ["MONDO:0008210", "DOID:0060866", "OMIM:169150", "UMLS:C4551999", "medgen:1646806"], "information_content": 100.0}
{"id": "HP:0007913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticular retinal dystrophy", "equivalent_identifiers": ["HP:0007913", "UMLS:C4024776"], "information_content": 100.0}
{"id": "HP:0025148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dark choroid", "equivalent_identifiers": ["HP:0025148", "UMLS:C4476615"], "information_content": 100.0}
{"id": "HP:0030506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yellow/white lesions of the retina", "equivalent_identifiers": ["HP:0030506", "UMLS:C4072991"], "information_content": 78.3}
{"id": "MONDO:0009665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biotinidase deficiency", "equivalent_identifiers": ["MONDO:0009665", "DOID:856", "OMIM:253260", "orphanet:79241", "UMLS:C0220754", "UMLS:C1854698", "MESH:C565365", "MESH:D028921", "MEDDRA:10071434", "NCIT:C84598", "SNOMEDCT:8808004", "medgen:66323", "ICD10:D81.810"], "information_content": 100.0}
{"id": "HP:0410145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating biotinidase concentration", "equivalent_identifiers": ["HP:0410145", "UMLS:C4703644"], "information_content": 100.0}
{"id": "MONDO:0007862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 3", "equivalent_identifiers": ["MONDO:0007862", "DOID:0110949", "OMIM:148820", "orphanet:896", "UMLS:C0079661", "SNOMEDCT:237918004", "medgen:86948", "icd11.foundation:847608197"], "information_content": 100.0}
{"id": "HP:0012453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral wrist flexion contracture", "equivalent_identifiers": ["HP:0012453", "UMLS:C4020723", "UMLS:C4022899"], "information_content": 100.0}
{"id": "MONDO:0008006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mobius syndrome", "equivalent_identifiers": ["MONDO:0008006", "DOID:13501", "OMIM:157900", "orphanet:570", "UMLS:C0221060", "MESH:D020331", "MEDDRA:10030069", "MEDDRA:10088169", "MEDDRA:10088170", "NCIT:C84893", "SNOMEDCT:766987006", "SNOMEDCT:89444000", "medgen:66357"], "information_content": 95.4}
{"id": "MONDO:0013064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple synostoses syndrome 3", "equivalent_identifiers": ["MONDO:0013064", "DOID:0081319", "OMIM:612961", "UMLS:C2751826", "MESH:C567839", "medgen:414116"], "information_content": 100.0}
{"id": "MONDO:0030736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 10", "equivalent_identifiers": ["MONDO:0030736", "DOID:0061014", "OMIM:619834", "UMLS:C5676966", "medgen:1801078"], "information_content": 100.0}
{"id": "MONDO:0014572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lichtenstein-Knorr syndrome", "equivalent_identifiers": ["MONDO:0014572", "DOID:0080065", "OMIM:616291", "orphanet:448251", "UMLS:C4225383", "SNOMEDCT:1237413006", "medgen:898996"], "information_content": 100.0}
{"id": "MONDO:0008921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnosinemia", "equivalent_identifiers": ["MONDO:0008921", "OMIM:212200", "orphanet:1361", "UMLS:C3495555", "UMLS:C5700357", "NCIT:C125661", "SNOMEDCT:360943000", "SNOMEDCT:410052008", "medgen:501203"], "information_content": 100.0}
{"id": "MONDO:0008066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasal hyperpigmentation, familial transverse", "equivalent_identifiers": ["MONDO:0008066", "OMIM:161530", "UMLS:C1834369", "medgen:331727"], "information_content": 100.0}
{"id": "MONDO:0013775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombomodulin-related bleeding disorder", "equivalent_identifiers": ["MONDO:0013775", "DOID:0111908", "OMIM:614486", "orphanet:436169", "UMLS:C3280976", "MESH:C566057", "SNOMEDCT:1197595004", "medgen:482606"], "information_content": 100.0}
{"id": "MONDO:0013056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 39", "equivalent_identifiers": ["MONDO:0013056", "DOID:0080349", "OMIM:612949", "orphanet:353217", "UMLS:C2751855", "UMLS:C4512050", "MESH:C567847", "SNOMEDCT:726702005", "medgen:414492"], "information_content": 100.0}
{"id": "HP:0032656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Febrile status epilepticus", "equivalent_identifiers": ["HP:0032656", "UMLS:C5397673", "MEDDRA:10087422"], "information_content": 100.0}
{"id": "MONDO:0009000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial reactive perforating collagenosis", "equivalent_identifiers": ["MONDO:0009000", "OMIM:216700", "orphanet:79147", "UMLS:C1857624", "MESH:C565687", "medgen:347504", "icd11.foundation:563155724"], "information_content": 100.0}
{"id": "MONDO:0030921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 55, with seizures", "equivalent_identifiers": ["MONDO:0030921", "DOID:0080227", "OMIM:617831", "UMLS:C4693371", "medgen:1635938"], "information_content": 100.0}
{"id": "MONDO:0859289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal dysmotility syndrome", "equivalent_identifiers": ["MONDO:0859289", "OMIM:620045", "UMLS:C5774219", "medgen:1823992"], "information_content": 100.0}
{"id": "MONDO:0040502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid deficiency 5", "equivalent_identifiers": ["MONDO:0040502", "OMIM:617825", "UMLS:C4540522", "medgen:1614419"], "information_content": 100.0}
{"id": "HP:0031074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal response to ACTH stimulation test", "equivalent_identifiers": ["HP:0031074", "UMLS:C4476953"], "information_content": 100.0}
{"id": "MONDO:0010373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 2B", "equivalent_identifiers": ["MONDO:0010373", "DOID:0080859", "OMIM:300604", "UMLS:C1845105", "MESH:C564476", "medgen:337159"], "information_content": 100.0}
{"id": "MONDO:0008197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parietal foramina 1", "equivalent_identifiers": ["MONDO:0008197", "OMIM:168500", "UMLS:C1868599", "MESH:C566827", "medgen:401480"], "information_content": 100.0}
{"id": "MONDO:0030723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 83", "equivalent_identifiers": ["MONDO:0030723", "DOID:0070609", "OMIM:619808", "UMLS:C5676951", "medgen:1812664"], "information_content": 100.0}
{"id": "MONDO:0007436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rootless teeth", "equivalent_identifiers": ["MONDO:0007436", "OMIM:125400", "orphanet:99789", "UMLS:C0399379", "UMLS:C3276551", "UMLS:C4082200", "MESH:C531665", "MESH:C538215", "SNOMEDCT:109493006", "medgen:97996", "HP:0011072"], "information_content": 95.4}
{"id": "HP:0006350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulp obliteration", "equivalent_identifiers": ["HP:0006350", "UMLS:C4020817", "UMLS:C4025057", "UMLS:C4280448"], "information_content": 100.0}
{"id": "MONDO:0100354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MMIH Syndrome", "equivalent_identifiers": ["MONDO:0100354", "DOID:0060610", "OMIM:249210", "orphanet:2241", "UMLS:C5542316", "MESH:C536138", "NCIT:C98982", "SNOMEDCT:253781004", "medgen:1778116"], "information_content": 100.0}
{"id": "OMIM:603688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY", "equivalent_identifiers": ["OMIM:603688", "UMLS:C1863600"]}
{"id": "MONDO:0002714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system cancer", "equivalent_identifiers": ["MONDO:0002714", "DOID:3620", "EFO:0000326", "UMLS:C0085136", "MESH:D016543", "MEDDRA:10007958", "MEDDRA:10007959", "MEDDRA:10009714", "MEDDRA:10009715", "MEDDRA:10009716", "MEDDRA:10028992", "NCIT:C4627", "SNOMEDCT:126951006", "medgen:87593", "ICD10:C72.9", "HP:0100006"], "information_content": 57.2}
{"id": "MONDO:0013778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism type 2C", "equivalent_identifiers": ["MONDO:0013778", "OMIM:614492", "orphanet:88940", "UMLS:C1840391", "MESH:C564162", "medgen:327089", "icd11.foundation:1052840113"], "information_content": 100.0}
{"id": "MONDO:0008702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achondrogenesis type II", "equivalent_identifiers": ["MONDO:0008702", "DOID:0080056", "OMIM:200610", "orphanet:93296", "UMLS:C0220685", "MESH:C536017", "SNOMEDCT:254061001", "medgen:66315"], "information_content": 100.0}
{"id": "HP:6000866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed distal femoral epiphyseal ossification", "equivalent_identifiers": ["HP:6000866", "UMLS:C5937579"], "information_content": 100.0}
{"id": "HP:6000867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed tibial epiphyseal ossification", "equivalent_identifiers": ["HP:6000867", "UMLS:C5937580"], "information_content": 100.0}
{"id": "HP:0004605", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent vertebral body mineralization", "equivalent_identifiers": ["HP:0004605", "UMLS:C1860191"], "information_content": 100.0}
{"id": "MONDO:0014416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACTH-independent macronodular adrenal hyperplasia 2", "equivalent_identifiers": ["MONDO:0014416", "DOID:0111624", "OMIM:615954", "EFO:0009148", "UMLS:C4014803", "medgen:863240"], "information_content": 100.0}
{"id": "MONDO:0010668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal dysplasia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010668", "OMIM:309620", "orphanet:1436", "UMLS:C1839729", "MESH:C564101", "SNOMEDCT:722478008", "medgen:326949"], "information_content": 100.0}
{"id": "MONDO:0008034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy, pseudohypertrophic, with Internalized capillaries", "equivalent_identifiers": ["MONDO:0008034", "OMIM:159050", "UMLS:C1834652", "MESH:C563554", "medgen:320399"], "information_content": 100.0}
{"id": "MONDO:0032626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 22", "equivalent_identifiers": ["MONDO:0032626", "DOID:0112069", "OMIM:618243", "UMLS:C4748796", "medgen:1648347"], "information_content": 100.0}
{"id": "OMIM:615767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IL21-related infantile inflammatory bowel disease", "equivalent_identifiers": ["OMIM:615767", "UMLS:C5567788", "NCIT:C176801", "SNOMEDCT:1173999006"], "information_content": 100.0}
{"id": "HP:0033343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mucoid diarrhea", "equivalent_identifiers": ["HP:0033343", "UMLS:C3671554", "MEDDRA:10056240", "MEDDRA:10056241"], "information_content": 100.0}
{"id": "MONDO:0007249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "camptobrachydactyly", "equivalent_identifiers": ["MONDO:0007249", "OMIM:114150", "orphanet:1319", "UMLS:C1861963", "MESH:C537967", "SNOMEDCT:733045005", "medgen:349399"], "information_content": 100.0}
{"id": "MONDO:0010213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group E", "equivalent_identifiers": ["MONDO:0010213", "DOID:0110846", "OMIM:278740", "UMLS:C1848411", "MESH:C564732", "NCIT:C114771", "SNOMEDCT:56048001", "medgen:341219"], "information_content": 100.0}
{"id": "MONDO:0013275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia due to glucophosphate isomerase deficiency", "equivalent_identifiers": ["MONDO:0013275", "DOID:0051005", "OMIM:613470", "orphanet:712", "UMLS:C3150730", "medgen:462080"], "information_content": 100.0}
{"id": "HP:0011981", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pigment gallstones", "equivalent_identifiers": ["HP:0011981", "UMLS:C3278865"], "information_content": 92.8}
{"id": "HP:0003568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased glucosephosphate isomerase level", "equivalent_identifiers": ["HP:0003568", "UMLS:C1291611", "UMLS:C5235039", "SNOMEDCT:124669001"], "information_content": 100.0}
{"id": "HP:0005525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous hemolytic crises", "equivalent_identifiers": ["HP:0005525", "UMLS:C4025184"], "information_content": 100.0}
{"id": "MONDO:0054636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skraban-Deardorff syndrome", "equivalent_identifiers": ["MONDO:0054636", "OMIM:617616", "orphanet:513456", "UMLS:C4539927", "SNOMEDCT:1177167002", "medgen:1627555"], "information_content": 100.0}
{"id": "MONDO:0012270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tukel syndrome", "equivalent_identifiers": ["MONDO:0012270", "DOID:0081021", "OMIM:609428", "UMLS:C1836217", "MESH:C536925", "medgen:332153", "icd11.foundation:2132105652"], "information_content": 100.0}
{"id": "MONDO:0008185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary chronic pancreatitis", "equivalent_identifiers": ["MONDO:0008185", "OMIM:167800", "orphanet:676", "UMLS:C0238339", "UMLS:C1832108", "UMLS:C1868653", "UMLS:C1969419", "MESH:C537262", "MESH:C566837", "MEDDRA:10056976", "MEDDRA:10067412", "NCIT:C95436", "SNOMEDCT:235956004", "SNOMEDCT:68072000", "medgen:116056", "icd11.foundation:1287702961"], "information_content": 95.4}
{"id": "HP:0005206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic pseudocyst", "equivalent_identifiers": ["HP:0005206", "UMLS:C0030299", "MEDDRA:10033635", "SNOMEDCT:111374002", "MESH:D010192"], "information_content": 100.0}
{"id": "MONDO:0032801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis et progressiva 6", "equivalent_identifiers": ["MONDO:0032801", "DOID:0080766", "OMIM:618531", "UMLS:C5193144", "medgen:1681026"], "information_content": 100.0}
{"id": "MONDO:0060532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects and skeletal malformations syndrome", "equivalent_identifiers": ["MONDO:0060532", "OMIM:617602", "orphanet:643503", "UMLS:C4539857", "medgen:1618340"], "information_content": 100.0}
{"id": "MONDO:0024560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PDA1", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0024560", "OMIM:607411", "UMLS:C4282128", "medgen:924232"], "information_content": 100.0}
{"id": "MONDO:0013274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 51", "equivalent_identifiers": ["MONDO:0013274", "DOID:0110398", "OMIM:613464", "UMLS:C3150715", "medgen:462065"], "information_content": 100.0}
{"id": "MONDO:0011133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deaf blind hypopigmentation syndrome, Yemenite type", "equivalent_identifiers": ["MONDO:0011133", "OMIM:601706", "orphanet:3214", "UMLS:C1866425", "MESH:C536771", "SNOMEDCT:721084001", "medgen:355712", "icd11.foundation:2090985024"], "information_content": 100.0}
{"id": "MONDO:0030897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lessel-Kreienkamp syndrome", "equivalent_identifiers": ["MONDO:0030897", "OMIM:619149", "UMLS:C5436892", "medgen:1762595"], "information_content": 100.0}
{"id": "MONDO:0011631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 4", "equivalent_identifiers": ["MONDO:0011631", "DOID:0111028", "OMIM:606069", "orphanet:647834", "orphanet:648562", "UMLS:C1853733", "MESH:C537249", "MEDDRA:10083956", "SNOMEDCT:1303911001", "SNOMEDCT:719975002", "medgen:340044"], "information_content": 100.0}
{"id": "MONDO:0032639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 112", "equivalent_identifiers": ["MONDO:0032639", "DOID:0111637", "OMIM:618257", "UMLS:C4748855", "medgen:1648378"], "information_content": 100.0}
{"id": "MONDO:0014948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay", "equivalent_identifiers": ["MONDO:0014948", "OMIM:617164", "orphanet:659702", "UMLS:C4310686", "medgen:934653"], "information_content": 100.0}
{"id": "MONDO:0014434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 5", "equivalent_identifiers": ["MONDO:0014434", "DOID:0110127", "OMIM:615983", "EFO:0009025", "UMLS:C3892039", "medgen:856141"], "information_content": 100.0}
{"id": "NCBIGene:596", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL2", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["NCBIGene:596", "ENSEMBL:ENSG00000171791", "HGNC:990", "OMIM:151430", "UMLS:C0376515", "UniProtKB:A0A7I2V3S7", "ENSEMBL:ENSP00000503628", "ENSEMBL:ENSP00000503628.1", "UniProtKB:P10415", "PR:P10415", "UMLS:C4042483", "MESH:C000595707"], "information_content": 84.8}
{"id": "MONDO:0030883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carpal tunnel syndrome 2", "equivalent_identifiers": ["MONDO:0030883", "DOID:0070467", "OMIM:619161", "UMLS:C5436916", "medgen:1725962"], "information_content": 100.0}
{"id": "HP:0033673", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive Phalen test", "equivalent_identifiers": ["HP:0033673", "UMLS:C0576714", "MEDDRA:10066039", "SNOMEDCT:299961008"], "information_content": 100.0}
{"id": "HP:0033672", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive carpal Tinel sign", "equivalent_identifiers": ["HP:0033672", "UMLS:C5539755"], "information_content": 100.0}
{"id": "MONDO:0009101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram syndrome 1", "equivalent_identifiers": ["MONDO:0009101", "DOID:0110629", "OMIM:222300", "UMLS:C4551693", "medgen:1641635", "ICD10:E13.8"], "information_content": 100.0}
{"id": "HP:0006217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited mobility of proximal interphalangeal joint", "equivalent_identifiers": ["HP:0006217", "UMLS:C1857288"], "information_content": 100.0}
{"id": "MONDO:0975796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 93, autosomal recessive", "equivalent_identifiers": ["MONDO:0975796", "OMIM:620938", "UMLS:C5975375"], "information_content": 100.0}
{"id": "MONDO:0012527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 11 multiple types", "equivalent_identifiers": ["MONDO:0012527", "DOID:0110249", "OMIM:610623", "UMLS:C1864567", "UMLS:C3808029", "MESH:C535344", "medgen:351162"], "information_content": 100.0}
{"id": "MONDO:0010886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2q37 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0010886", "DOID:0111704", "OMIM:600430", "orphanet:1001", "UMLS:C2931817", "MESH:C538317", "NCIT:C129021", "SNOMEDCT:702357000", "medgen:419169"], "information_content": 100.0}
{"id": "MONDO:0859303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with ocular anomalies and distinctive facial features", "equivalent_identifiers": ["MONDO:0859303", "DOID:0081301", "OMIM:620086", "UMLS:C5774238", "medgen:1824011"], "information_content": 100.0}
{"id": "MONDO:0010875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachydermodactyly, familial", "equivalent_identifiers": ["MONDO:0010875", "OMIM:600356", "UMLS:C1838218", "MESH:C563947", "medgen:324974"], "information_content": 100.0}
{"id": "MONDO:0008654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 27A", "equivalent_identifiers": ["MONDO:0008654", "OMIM:193003", "MESH:C537856"], "information_content": 100.0}
{"id": "HP:0011477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upbeat nystagmus", "equivalent_identifiers": ["HP:0011477", "UMLS:C0585545", "SNOMEDCT:307677002"], "information_content": 100.0}
{"id": "MONDO:0014681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid cancer, nonmedullary, 4", "equivalent_identifiers": ["MONDO:0014681", "OMIM:616534", "UMLS:C4225293", "medgen:907624"], "information_content": 100.0}
{"id": "MONDO:0030474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 10, autosomal, with male infertility", "equivalent_identifiers": ["MONDO:0030474", "DOID:0051024", "OMIM:619607", "UMLS:C5562072", "medgen:1794282"], "information_content": 100.0}
{"id": "MONDO:0011246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megaconial type congenital muscular dystrophy", "equivalent_identifiers": ["MONDO:0011246", "DOID:0110632", "OMIM:602541", "orphanet:280671", "UMLS:C1865233", "MESH:C566527", "SNOMEDCT:1230273004", "medgen:355943", "ICD10:G71.2"], "information_content": 100.0}
{"id": "MONDO:0009179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive dystrophic epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0009179", "DOID:0060642", "OMIM:226600", "orphanet:79408", "UMLS:C0079474", "UMLS:C2673611", "UMLS:C2673612", "MESH:C567121", "MESH:C567122", "MEDDRA:10087380", "NCIT:C156446", "SNOMEDCT:48528004", "medgen:36311", "ICD10:Q81.2"], "information_content": 95.4}
{"id": "MONDO:0010083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "succinic semialdehyde dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0010083", "DOID:0060175", "OMIM:271980", "orphanet:22", "UMLS:C0268631", "MESH:C535803", "SNOMEDCT:49748000", "medgen:124340"], "information_content": 100.0}
{"id": "HP:6000991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 4-hydroxybutyric acid concentration", "equivalent_identifiers": ["HP:6000991", "UMLS:C5970333"], "information_content": 100.0}
{"id": "HP:0032530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased tissue succinic semialdehyde dehydrogenase activity", "equivalent_identifiers": ["HP:0032530", "UMLS:C5139405"], "information_content": 100.0}
{"id": "HP:0032531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF gamma-aminobutyric acid concentration", "equivalent_identifiers": ["HP:0032531", "UMLS:C5139406"], "information_content": 100.0}
{"id": "HP:0032532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated CSF 4-hydroxybutyric acid concentration", "equivalent_identifiers": ["HP:0032532", "UMLS:C5139407"], "information_content": 100.0}
{"id": "HP:6000608", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 3,4-Dihydroxybutyric acid level", "equivalent_identifiers": ["HP:6000608", "UMLS:C5937363"], "information_content": 100.0}
{"id": "HP:0500253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of gamma-aminobutyric acid in urine", "equivalent_identifiers": ["HP:0500253", "UMLS:C1848971"], "information_content": 95.4}
{"id": "MONDO:0013688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Becker Nevus", "equivalent_identifiers": ["MONDO:0013688", "OMIM:614323", "orphanet:79150", "UMLS:C1304501", "NCIT:C3924", "SNOMEDCT:403803002", "medgen:473394"], "information_content": 100.0}
{"id": "MONDO:0008627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureter cancer", "equivalent_identifiers": ["MONDO:0008627", "DOID:11819", "OMIM:191600", "UMLS:C0153619", "MESH:D014516", "MEDDRA:10026596", "MEDDRA:10046375", "MEDDRA:10046384", "MEDDRA:10046392", "MEDDRA:10046395", "NCIT:C7543", "SNOMEDCT:363458004", "medgen:102281", "ICD10:C66", "ICD9:189.2"], "information_content": 75.7}
{"id": "MONDO:0021111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureter neoplasm", "equivalent_identifiers": ["MONDO:0021111", "EFO:0003844", "UMLS:C0041955", "MEDDRA:10051868", "MEDDRA:10062221", "NCIT:C3427", "SNOMEDCT:126882009", "medgen:12011", "HP:0100516"], "information_content": 74.6}
{"id": "MONDO:0013273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16p13.3 duplication syndrome", "equivalent_identifiers": ["MONDO:0013273", "DOID:0060431", "OMIM:613458", "orphanet:96078", "UMLS:C3150708", "UMLS:C4518796", "SNOMEDCT:733473000", "medgen:462058"], "information_content": 100.0}
{"id": "HP:0004635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical C5/C6 vertebrae fusion", "equivalent_identifiers": ["HP:0004635", "UMLS:C4025301"], "information_content": 100.0}
{"id": "OMIM:614337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4", "equivalent_identifiers": ["OMIM:614337", "UMLS:C1838333", "MESH:C563971"]}
{"id": "MONDO:0008022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscle cramps, familial", "equivalent_identifiers": ["MONDO:0008022", "OMIM:158400", "UMLS:C1834708", "MESH:C563563", "medgen:371885"], "information_content": 100.0}
{"id": "MONDO:0859205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "delayed puberty, self-limited", "equivalent_identifiers": ["MONDO:0859205", "OMIM:619613", "UMLS:C2874202", "medgen:1789612"], "information_content": 100.0}
{"id": "MONDO:0030924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 5", "equivalent_identifiers": ["MONDO:0030924", "DOID:0060919", "OMIM:619175", "UMLS:C5543027", "medgen:1779962"], "information_content": 100.0}
{"id": "MONDO:0014945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, distal, with rimmed vacuoles", "equivalent_identifiers": ["MONDO:0014945", "DOID:0081363", "OMIM:617158", "UMLS:C5399975", "medgen:1728314"], "information_content": 100.0}
{"id": "MONDO:0012787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 39", "equivalent_identifiers": ["MONDO:0012787", "DOID:0110790", "OMIM:612020", "orphanet:139480", "UMLS:C2677586", "MESH:C567433", "SNOMEDCT:719103009", "medgen:383142"], "information_content": 95.4}
{"id": "MONDO:0013472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatal infantile hypertonic myofibrillar myopathy", "equivalent_identifiers": ["MONDO:0013472", "DOID:0080309", "OMIM:613869", "orphanet:280553", "UMLS:C5190691", "SNOMEDCT:782883004", "medgen:1684001"], "information_content": 100.0}
{"id": "MONDO:0008836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia with myoclonic epilepsy and presenile dementia", "equivalent_identifiers": ["MONDO:0008836", "OMIM:208700", "UMLS:C1859646", "MESH:C565933", "medgen:347924"], "information_content": 100.0}
{"id": "MONDO:0014829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 4", "equivalent_identifiers": ["MONDO:0014829", "DOID:0090011", "OMIM:616911", "UMLS:C4310798", "medgen:934765"], "information_content": 100.0}
{"id": "MONDO:0009511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Larsen-like syndrome, B3GAT3 type", "equivalent_identifiers": ["MONDO:0009511", "DOID:0080575", "OMIM:245600", "orphanet:284139", "UMLS:C2931649", "UMLS:C3278404", "MESH:C537874", "medgen:480034"], "information_content": 100.0}
{"id": "MONDO:0025351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-neurodevelopmental syndrome, X-linked", "equivalent_identifiers": ["MONDO:0025351", "OMIM:301056", "UMLS:C5542341", "medgen:1788942"], "information_content": 100.0}
{"id": "HP:0025024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megarectum", "equivalent_identifiers": ["HP:0025024", "UMLS:C1456333", "MEDDRA:10055072"], "information_content": 100.0}
{"id": "MONDO:0013928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 23", "equivalent_identifiers": ["MONDO:0013928", "DOID:0090051", "OMIM:614860", "orphanet:420492", "UMLS:C3538999", "SNOMEDCT:783242003", "medgen:761274"], "information_content": 100.0}
{"id": "MONDO:0013940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 18", "equivalent_identifiers": ["MONDO:0013940", "DOID:0110604", "OMIM:614874", "UMLS:C3543825", "medgen:762331"], "information_content": 100.0}
{"id": "MONDO:0054862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 15", "equivalent_identifiers": ["MONDO:0054862", "DOID:0080872", "OMIM:618096", "UMLS:C4748170", "medgen:1648369"], "information_content": 100.0}
{"id": "MONDO:0010635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 1 with or without anosmia", "equivalent_identifiers": ["MONDO:0010635", "DOID:0090094", "OMIM:308700", "UMLS:C1563719", "NCIT:C75480", "medgen:295872"], "information_content": 100.0}
{"id": "MONDO:0008306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABri amyloidosis", "equivalent_identifiers": ["MONDO:0008306", "DOID:0070029", "OMIM:176500", "orphanet:97345", "UMLS:C0342608", "UMLS:C5190835", "MESH:C538208", "SNOMEDCT:783161005", "medgen:1677186", "icd11.foundation:1037669378"], "information_content": 100.0}
{"id": "MONDO:0859381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 100", "equivalent_identifiers": ["MONDO:0859381", "OMIM:620247", "UMLS:C5830291", "medgen:1840927"], "information_content": 100.0}
{"id": "MONDO:0010650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melnick-Needles syndrome", "equivalent_identifiers": ["MONDO:0010650", "DOID:0111788", "OMIM:309350", "orphanet:2484", "UMLS:C0025237", "MEDDRA:10059236", "MEDDRA:10060908", "SNOMEDCT:13449007", "medgen:6292"], "information_content": 100.0}
{"id": "HP:0005446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Obtuse angle of mandible", "equivalent_identifiers": ["HP:0005446", "UMLS:C4038738", "SNOMEDCT:709997007"], "information_content": 100.0}
{"id": "MONDO:0013464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia type 5", "equivalent_identifiers": ["MONDO:0013464", "DOID:0050993", "OMIM:613855", "orphanet:211067", "UMLS:C1866039", "MESH:C566601", "SNOMEDCT:718756005", "medgen:356142"], "information_content": 100.0}
{"id": "MONDO:0008255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet factor 3 deficiency", "equivalent_identifiers": ["MONDO:0008255", "OMIM:173450", "UMLS:C1868256", "MESH:C566798", "medgen:356931"], "information_content": 100.0}
{"id": "MONDO:0013856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes", "equivalent_identifiers": ["MONDO:0013856", "OMIM:614684", "UMLS:C3553465", "medgen:766379"], "information_content": 100.0}
{"id": "HP:0010805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upturned corners of mouth", "equivalent_identifiers": ["HP:0010805", "UMLS:C3553471"], "information_content": 100.0}
{"id": "MONDO:0009914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudodiastrophic dysplasia", "equivalent_identifiers": ["MONDO:0009914", "OMIM:264180", "orphanet:85174", "UMLS:C0432206", "MESH:C535826", "SNOMEDCT:254058002", "medgen:140924", "icd11.foundation:902021042"], "information_content": 100.0}
{"id": "HP:0005680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue-like lumbar vertebral deformities", "equivalent_identifiers": ["HP:0005680", "UMLS:C4025156"], "information_content": 100.0}
{"id": "MONDO:0957810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay, dysmorphic facies, and brain anomalies", "equivalent_identifiers": ["MONDO:0957810", "DOID:0060933", "OMIM:620535", "UMLS:C5882698", "medgen:1847857"], "information_content": 100.0}
{"id": "MONDO:0007219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osebold-Remondini syndrome", "equivalent_identifiers": ["MONDO:0007219", "DOID:0110968", "OMIM:112910", "orphanet:93382", "UMLS:C1862130", "MESH:C537092", "SNOMEDCT:715722003", "medgen:350598"], "information_content": 100.0}
{"id": "HP:0005013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic distal radial epiphyses", "equivalent_identifiers": ["HP:0005013", "UMLS:C1862131"], "information_content": 100.0}
{"id": "HP:0006135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased finger mobility", "equivalent_identifiers": ["HP:0006135", "UMLS:C1862133"], "information_content": 90.9}
{"id": "MONDO:0014839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorea, childhood-onset, with psychomotor retardation", "equivalent_identifiers": ["MONDO:0014839", "OMIM:616939", "UMLS:C4310787", "medgen:934754"], "information_content": 100.0}
{"id": "MONDO:0859382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 50 with or without glaucoma", "equivalent_identifiers": ["MONDO:0859382", "OMIM:620253", "UMLS:C5830299", "medgen:1840935"], "information_content": 100.0}
{"id": "MONDO:0010316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FG syndrome 3", "equivalent_identifiers": ["MONDO:0010316", "OMIM:300406", "UMLS:C1845567", "medgen:375687"], "information_content": 100.0}
{"id": "MONDO:0030057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental, jaw, eye, and digital syndrome", "equivalent_identifiers": ["MONDO:0030057", "OMIM:618914", "UMLS:C5394477", "medgen:1712714"], "information_content": 100.0}
{"id": "HP:0009274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joint contracture of the 4th finger", "equivalent_identifiers": ["HP:0009274", "UMLS:C4021504"], "information_content": 90.9}
{"id": "MONDO:0011676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PHACE syndrome", "equivalent_identifiers": ["MONDO:0011676", "OMIM:606519", "orphanet:42775", "UMLS:C1847874", "MESH:C537892", "medgen:376231", "icd11.foundation:1825849023"], "information_content": 100.0}
{"id": "HP:0005314", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous branches of internal carotid artery", "equivalent_identifiers": ["HP:0005314", "UMLS:C1847886"], "information_content": 100.0}
{"id": "HP:0100029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lingual thyroid", "equivalent_identifiers": ["HP:0100029", "EFO:1001803", "UMLS:C0266284", "MEDDRA:10069122", "SNOMEDCT:129123002", "SNOMEDCT:21279007", "MESH:D046151"], "information_content": 100.0}
{"id": "HP:0007986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased retinal vascularity", "equivalent_identifiers": ["HP:0007986", "UMLS:C1847882"], "information_content": 100.0}
{"id": "MONDO:0003115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subglottic hemangioma", "equivalent_identifiers": ["MONDO:0003115", "DOID:472", "UMLS:C1336518", "NCIT:C6026", "medgen:234907", "HP:0410264"], "information_content": 100.0}
{"id": "HP:0007434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plaque-like facial hemangioma", "equivalent_identifiers": ["HP:0007434", "UMLS:C1847884"], "information_content": 100.0}
{"id": "MONDO:0032884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies", "equivalent_identifiers": ["MONDO:0032884", "OMIM:618727", "UMLS:C5231477", "medgen:1684719"], "information_content": 100.0}
{"id": "MONDO:0013354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 4", "equivalent_identifiers": ["MONDO:0013354", "DOID:0050943", "OMIM:613672", "orphanet:254343", "UMLS:C3150925", "SNOMEDCT:784347002", "medgen:462275"], "information_content": 100.0}
{"id": "MONDO:0009387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial lipoprotein lipase deficiency", "equivalent_identifiers": ["MONDO:0009387", "DOID:14118", "OMIM:238600", "orphanet:309015", "UMLS:C0023817", "UMLS:C1969232", "MESH:D008072", "MEDDRA:10064612", "MEDDRA:10064705", "MEDDRA:10084113", "NCIT:C84771", "SNOMEDCT:267435002", "SNOMEDCT:275598004", "SNOMEDCT:403827000", "medgen:7352", "icd11.foundation:1829539217", "ICD9:272.3"], "information_content": 100.0}
{"id": "HP:0031028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lactescent serum", "equivalent_identifiers": ["HP:0031028", "UMLS:C1096710", "MEDDRA:10054836", "MEDDRA:10054871"], "information_content": 100.0}
{"id": "MONDO:0014256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 67", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014256", "DOID:0110359", "OMIM:615565", "UMLS:C3809954", "medgen:816284"], "information_content": 100.0}
{"id": "MONDO:0010057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, Ryukyuan type", "equivalent_identifiers": ["MONDO:0010057", "OMIM:271200", "UMLS:C1849102", "MESH:C536881", "medgen:376517"], "information_content": 100.0}
{"id": "HP:0031136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased acrosin in sperm head", "equivalent_identifiers": ["HP:0031136", "UMLS:C4476995"], "information_content": 100.0}
{"id": "MONDO:0859086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked 110", "equivalent_identifiers": ["MONDO:0859086", "OMIM:301095", "UMLS:C5774180", "medgen:1823954"], "information_content": 100.0}
{"id": "MONDO:0012716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, Cantu type", "equivalent_identifiers": ["MONDO:0012716", "DOID:0112287", "OMIM:611717", "orphanet:163654", "UMLS:C2673649", "MESH:C567128", "SNOMEDCT:718765003", "medgen:435975", "icd11.foundation:897226700"], "information_content": 100.0}
{"id": "HP:0006108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapered metacarpals", "equivalent_identifiers": ["HP:0006108", "UMLS:C4025091"], "information_content": 100.0}
{"id": "HP:0004580", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior scalloping of vertebral bodies", "equivalent_identifiers": ["HP:0004580", "UMLS:C2673652"], "information_content": 100.0}
{"id": "HP:0006192", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tapered phalanx of finger", "equivalent_identifiers": ["HP:0006192", "UMLS:C4025084"], "information_content": 92.8}
{"id": "HP:0005069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rhizo-meso-acromelic limb shortening", "equivalent_identifiers": ["HP:0005069", "UMLS:C2673654"], "information_content": 100.0}
{"id": "MONDO:0014482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 29", "equivalent_identifiers": ["MONDO:0014482", "DOID:0070059", "OMIM:616078", "UMLS:C4015141", "medgen:863578"], "information_content": 100.0}
{"id": "MONDO:0800129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory disease, X-linked", "equivalent_identifiers": ["MONDO:0800129", "OMIM:301081", "UMLS:C5676885", "medgen:1811268"], "information_content": 100.0}
{"id": "MONDO:0017255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panuveitis", "equivalent_identifiers": ["MONDO:0017255", "DOID:12030", "orphanet:280898", "EFO:1001082", "UMLS:C0030343", "MESH:D015864", "MEDDRA:10033687", "NCIT:C84989", "SNOMEDCT:75614007", "medgen:45303", "icd11.foundation:1125547814", "ICD10:H44.11", "ICD9:360.12", "HP:0012121"], "information_content": 88.2}
{"id": "MONDO:0009899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyhydramnios, chronic idiopathic", "equivalent_identifiers": ["MONDO:0009899", "OMIM:263610", "UMLS:C1849720", "MESH:C564876", "medgen:340402"], "information_content": 100.0}
{"id": "MONDO:0009280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosodium glutamate sensitivity", "equivalent_identifiers": ["MONDO:0009280", "OMIM:231630", "UMLS:C0008127", "MESH:C562377", "MEDDRA:10037980", "SNOMEDCT:56344009", "SNOMEDCT:782338006", "medgen:891"], "information_content": 100.0}
{"id": "MONDO:0013134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 1, open angle, O", "equivalent_identifiers": ["MONDO:0013134", "OMIM:613100", "UMLS:C2751294", "MESH:C567753", "medgen:416515"], "information_content": 100.0}
{"id": "MONDO:0014084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia with oculomotor apraxia type 3", "equivalent_identifiers": ["MONDO:0014084", "DOID:0060557", "OMIM:615217", "UMLS:C3554690", "NCIT:C173403", "medgen:767604"], "information_content": 100.0}
{"id": "MONDO:0032890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuromuscular disease and ocular or auditory anomalies with or without seizures", "equivalent_identifiers": ["MONDO:0032890", "OMIM:618733", "UMLS:C5231483", "medgen:1684689"], "information_content": 100.0}
{"id": "MONDO:0007605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrinolytic defect", "equivalent_identifiers": ["MONDO:0007605", "OMIM:134900", "UMLS:C1851184", "MESH:C565017", "medgen:338221"], "information_content": 100.0}
{"id": "MONDO:0030318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 30", "equivalent_identifiers": ["MONDO:0030318", "DOID:0070411", "OMIM:619405", "UMLS:C5543620", "medgen:1778853"], "information_content": 100.0}
{"id": "HP:0030187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Titubation", "equivalent_identifiers": ["HP:0030187", "UMLS:C0231690", "UMLS:C0231695", "UMLS:C0701824", "MEDDRA:10017586", "MEDDRA:10041902", "MEDDRA:10041903", "MEDDRA:10043895", "SNOMEDCT:365884000", "SNOMEDCT:78691002"], "information_content": 92.8}
{"id": "MONDO:0014756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 5", "equivalent_identifiers": ["MONDO:0014756", "DOID:0111432", "OMIM:616736", "UMLS:C4225223", "medgen:897748"], "information_content": 100.0}
{"id": "MONDO:0012311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness", "equivalent_identifiers": ["MONDO:0012311", "OMIM:609616", "UMLS:C1865022", "MESH:C566507", "medgen:355893"], "information_content": 100.0}
{"id": "HP:0006370", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal ulnar epiphyseal stippling", "equivalent_identifiers": ["HP:0006370", "UMLS:C4021600"], "information_content": 100.0}
{"id": "HP:0010231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged epiphyses of the phalanges of the hand", "equivalent_identifiers": ["HP:0010231", "UMLS:C1865036"], "information_content": 79.0}
{"id": "HP:0006134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged metacarpal epiphyses", "equivalent_identifiers": ["HP:0006134", "UMLS:C1865035"], "information_content": 90.9}
{"id": "MONDO:0008368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant distal renal tubular acidosis", "equivalent_identifiers": ["MONDO:0008368", "OMIM:179800", "orphanet:93608"], "information_content": 100.0}
{"id": "HP:0031033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired urinary acidification", "equivalent_identifiers": ["HP:0031033", "UMLS:C4476921"], "information_content": 100.0}
{"id": "MONDO:0859528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 89", "equivalent_identifiers": ["MONDO:0859528", "DOID:0070612", "OMIM:620284", "UMLS:C5830357", "medgen:1840993"], "information_content": 100.0}
{"id": "MONDO:0008013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 9p deletion syndrome", "equivalent_identifiers": ["MONDO:0008013", "DOID:0060732", "OMIM:158170", "orphanet:261112", "UMLS:C0795830", "MESH:C538024", "SNOMEDCT:62599000", "SNOMEDCT:771072001", "medgen:167073"], "information_content": 92.8}
{"id": "HP:0005882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermatoglyphic variants", "equivalent_identifiers": ["HP:0005882", "UMLS:C4025116"], "information_content": 92.8}
{"id": "MONDO:0011655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alveolar soft part sarcoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0011655", "DOID:4239", "OMIM:606243", "orphanet:163699", "EFO:0007143", "UMLS:C0206657", "UMLS:C0279544", "UMLS:C0279985", "MESH:D018234", "MEDDRA:10001882", "MEDDRA:10001883", "MEDDRA:10001886", "NCIT:C3750", "NCIT:C7943", "NCIT:C8092", "SNOMEDCT:404056007", "SNOMEDCT:88195001", "medgen:61652", "HP:0012218"], "information_content": 81.3}
{"id": "MONDO:0023660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioedema, hereditary, 6", "equivalent_identifiers": ["MONDO:0023660", "OMIM:619363", "UMLS:C5543516", "medgen:1785484"], "information_content": 100.0}
{"id": "MONDO:0014472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodic fever-infantile enterocolitis-autoinflammatory syndrome", "equivalent_identifiers": ["MONDO:0014472", "OMIM:616050", "orphanet:436166", "UMLS:C4015067", "MEDDRA:10084306", "SNOMEDCT:1197594000", "medgen:863504"], "information_content": 100.0}
{"id": "MONDO:8000024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD", "equivalent_identifiers": ["MONDO:8000024", "DOID:0110119", "OMIM:615559", "orphanet:664711", "UMLS:C3809928", "medgen:816258"], "information_content": 100.0}
{"id": "HP:0025475", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythematous macule", "equivalent_identifiers": ["HP:0025475", "UMLS:C2228270"], "information_content": 100.0}
{"id": "MONDO:0043287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "superior vena cava syndrome", "equivalent_identifiers": ["MONDO:0043287", "EFO:1001855", "UMLS:C0038833", "UMLS:C1336532", "MESH:D013479", "MEDDRA:10042568", "MEDDRA:10042569", "MEDDRA:10058988", "NCIT:C3396", "NCIT:C36065", "SNOMEDCT:470759007", "SNOMEDCT:63363004", "SNOMEDCT:766949003", "medgen:52576", "HP:0031041"], "information_content": 76.7}
{"id": "MONDO:0011466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal myopathy, Welander type", "equivalent_identifiers": ["MONDO:0011466", "OMIM:604454", "orphanet:603", "UMLS:C0221054", "MEDDRA:10078052", "medgen:67441"], "information_content": 100.0}
{"id": "MONDO:0013839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 6", "equivalent_identifiers": ["MONDO:0013839", "DOID:0070151", "OMIM:614653", "orphanet:314381", "UMLS:C3539003", "SNOMEDCT:1279838005", "medgen:761278"], "information_content": 100.0}
{"id": "HP:0012822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral vocal cord paresis", "equivalent_identifiers": ["HP:0012822", "UMLS:C0751574"], "information_content": 100.0}
{"id": "HP:0033031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpyrexia", "equivalent_identifiers": ["HP:0033031", "NCIT:C111817", "UMLS:C0392676", "MEDDRA:10020741", "MEDDRA:10020743", "MEDDRA:10020744", "SNOMEDCT:409702008"], "information_content": 100.0}
{"id": "MONDO:0859164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteootohepatoenteric syndrome", "equivalent_identifiers": ["MONDO:0859164", "OMIM:619377", "UMLS:C5543557", "NCIT:C201597", "medgen:1785846"], "information_content": 100.0}
{"id": "HP:0033309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ileoileal intussusception", "equivalent_identifiers": ["HP:0033309", "UMLS:C5539504"], "information_content": 100.0}
{"id": "HP:0410204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased intestinal transit time", "equivalent_identifiers": ["HP:0410204", "UMLS:C3665873", "MEDDRA:10074218"], "information_content": 100.0}
{"id": "HP:0033736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Grade II vesicoureteral reflux", "equivalent_identifiers": ["HP:0033736", "NCIT:C98662", "UMLS:C3274337"], "information_content": 100.0}
{"id": "MONDO:0014470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 65", "equivalent_identifiers": ["MONDO:0014470", "DOID:0110586", "OMIM:616044", "UMLS:C3892048", "medgen:856147"], "information_content": 100.0}
{"id": "MONDO:0014747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome", "equivalent_identifiers": ["MONDO:0014747", "OMIM:616722", "orphanet:488197", "UMLS:C4225493", "medgen:903733"], "information_content": 100.0}
{"id": "MONDO:0012474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "equivalent_identifiers": ["MONDO:0012474", "DOID:0060685", "DOID:0081119", "OMIM:610353", "UMLS:C1835905", "UMLS:C4692954", "MESH:C563679", "medgen:332082"], "information_content": 100.0}
{"id": "HP:0025144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shivering", "equivalent_identifiers": ["HP:0025144", "NCIT:C35015", "UMLS:C0036973", "MEDDRA:10040558", "MEDDRA:10040559", "SNOMEDCT:248456009", "SNOMEDCT:43724002", "MESH:D012768"], "information_content": 95.4}
{"id": "MONDO:0008534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized essential telangiectasia", "equivalent_identifiers": ["MONDO:0008534", "OMIM:187260", "orphanet:280774", "UMLS:C0406502", "UMLS:C0473555", "MESH:C562908", "MESH:C562998", "SNOMEDCT:238763007", "SNOMEDCT:238764001", "medgen:140803", "icd11.foundation:236046211"], "information_content": 100.0}
{"id": "MONDO:0013591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia, multiple, 6", "equivalent_identifiers": ["MONDO:0013591", "DOID:0070301", "OMIM:614135", "UMLS:C2675767", "medgen:436517"], "information_content": 100.0}
{"id": "MONDO:0011439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 12", "equivalent_identifiers": ["MONDO:0011439", "DOID:0050962", "OMIM:604326", "orphanet:98762", "UMLS:C1858501", "MESH:C565790", "NCIT:C154316", "SNOMEDCT:719208005", "medgen:347653", "icd11.foundation:1210063722"], "information_content": 100.0}
{"id": "MONDO:0013480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypomagnesemia 6", "equivalent_identifiers": ["MONDO:0013480", "DOID:0060884", "OMIM:613882", "UMLS:C3151295", "medgen:462645"], "information_content": 100.0}
{"id": "HP:0033759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired renal tubular reabsorption of magnesium", "equivalent_identifiers": ["HP:0033759", "UMLS:C5539797"], "information_content": 100.0}
{"id": "MONDO:0007332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "split-hand/foot malformation with long bone deficiency 1", "equivalent_identifiers": ["MONDO:0007332", "OMIM:119100", "UMLS:C1861553", "MESH:C536425", "medgen:349310"], "information_content": 100.0}
{"id": "MONDO:0032893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures", "equivalent_identifiers": ["MONDO:0032893", "DOID:0081266", "OMIM:618737", "UMLS:C5231486", "medgen:1684879"], "information_content": 100.0}
{"id": "MONDO:0024607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy with cataracts and intellectual disability", "equivalent_identifiers": ["MONDO:0024607", "DOID:0080197", "OMIM:617404", "orphanet:662184", "EFO:0009149", "UMLS:C4479410", "medgen:1382291"], "information_content": 100.0}
{"id": "HP:0009126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased adipose tissue", "equivalent_identifiers": ["HP:0009126", "NCIT:C174379", "UMLS:C4024583", "MEDDRA:10016251"], "information_content": 88.2}
{"id": "MONDO:0011326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "citrullinemia, type II, adult-onset", "equivalent_identifiers": ["MONDO:0011326", "DOID:0070342", "OMIM:603471"], "information_content": 100.0}
{"id": "HP:6000785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protein craving", "equivalent_identifiers": ["HP:6000785", "UMLS:C5937513"], "information_content": 100.0}
{"id": "HP:0033193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ballooning hepatocyte degeneration", "equivalent_identifiers": ["HP:0033193", "UMLS:C5421675"], "information_content": 100.0}
{"id": "MONDO:0013350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 4b", "equivalent_identifiers": ["MONDO:0013350", "DOID:0080123", "OMIM:613662", "UMLS:C3150914", "medgen:462264"], "information_content": 100.0}
{"id": "MONDO:0007059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrorenal syndrome", "equivalent_identifiers": ["MONDO:0007059", "DOID:0060347", "OMIM:102520", "orphanet:971", "UMLS:C3495490", "MESH:C563159", "SNOMEDCT:720458005", "medgen:501193", "icd11.foundation:1948375645"], "information_content": 95.4}
{"id": "MONDO:0014259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 2D", "equivalent_identifiers": ["MONDO:0014259", "DOID:0111210", "OMIM:615575", "UMLS:C3888271", "medgen:854832"], "information_content": 100.0}
{"id": "HP:0031108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triceps weakness", "equivalent_identifiers": ["HP:0031108", "UMLS:C2230441"], "information_content": 100.0}
{"id": "MONDO:0009898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polysaccharide, storage of unusual", "equivalent_identifiers": ["MONDO:0009898", "OMIM:263600", "UMLS:C1849721", "MESH:C564877", "medgen:376645"], "information_content": 100.0}
{"id": "HP:0011012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating polysaccharide concentration", "equivalent_identifiers": ["HP:0011012", "UMLS:C4023600", "UMLS:C5139057"], "information_content": 88.2}
{"id": "MONDO:0859564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features", "equivalent_identifiers": ["MONDO:0859564", "OMIM:301091", "UMLS:C5774178", "medgen:1823952"], "information_content": 100.0}
{"id": "MONDO:0012485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 68", "equivalent_identifiers": ["MONDO:0012485", "DOID:0110519", "OMIM:610419", "UMLS:C1835854", "MESH:C563669", "medgen:324374"], "information_content": 100.0}
{"id": "MONDO:0014255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement factor b deficiency", "equivalent_identifiers": ["MONDO:0014255", "OMIM:615561", "UMLS:C3809950", "medgen:816280"], "information_content": 100.0}
{"id": "MONDO:0009968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss", "equivalent_identifiers": ["MONDO:0009968", "OMIM:267300", "UMLS:C0403554", "UMLS:C4016429", "UMLS:C4302514", "MESH:C562897", "SNOMEDCT:236532003", "SNOMEDCT:722468005", "medgen:98336"], "information_content": 100.0}
{"id": "MONDO:0014082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptosporidiosis-chronic cholangitis-liver disease syndrome", "equivalent_identifiers": ["MONDO:0014082", "DOID:0111982", "OMIM:615207", "orphanet:357329", "UMLS:C3554687", "medgen:767601"], "information_content": 100.0}
{"id": "HP:0200124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic hepatitis due to cryptosporidium infection", "equivalent_identifiers": ["HP:0200124", "UMLS:C3808820"], "information_content": 100.0}
{"id": "MONDO:0013358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 4", "equivalent_identifiers": ["MONDO:0013358", "DOID:0070010", "OMIM:613676", "UMLS:C3888212", "medgen:854819"], "information_content": 100.0}
{"id": "MONDO:0032881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 16", "equivalent_identifiers": ["MONDO:0032881", "DOID:0080873", "OMIM:618723", "EFO:0010646", "UMLS:C5231474", "medgen:1684679"], "information_content": 100.0}
{"id": "MONDO:0012929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compton-North congenital myopathy", "equivalent_identifiers": ["MONDO:0012929", "DOID:0080101", "OMIM:612540", "orphanet:210163", "UMLS:C2675527", "MESH:C567261", "medgen:393406"], "information_content": 100.0}
{"id": "HP:0033333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jaw contracture", "equivalent_identifiers": ["HP:0033333", "UMLS:C4315108"], "information_content": 100.0}
{"id": "MONDO:0013483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity, hyperphagia, and developmental delay", "equivalent_identifiers": ["MONDO:0013483", "OMIM:613886", "UMLS:C3151303", "MESH:C563938", "SNOMEDCT:1303867005", "medgen:462653"], "information_content": 100.0}
{"id": "MONDO:0013589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 6", "equivalent_identifiers": ["MONDO:0013589", "DOID:0111131", "OMIM:614131", "UMLS:C3279905", "medgen:481535"], "information_content": 100.0}
{"id": "MONDO:0012476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 30", "equivalent_identifiers": ["MONDO:0012476", "DOID:0110781", "OMIM:610357", "orphanet:101010", "UMLS:C1835896", "UMLS:C5235139", "MESH:C563677", "NCIT:C170435", "SNOMEDCT:763377006", "medgen:1710020"], "information_content": 100.0}
{"id": "MONDO:0859532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, multiple types, 9", "equivalent_identifiers": ["MONDO:0859532", "OMIM:620294", "UMLS:C5830367", "medgen:1841003"], "information_content": 100.0}
{"id": "HP:0011680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single ventricle of indeterminate morphology", "equivalent_identifiers": ["HP:0011680", "UMLS:C4023233"], "information_content": 100.0}
{"id": "MONDO:0014750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 33", "equivalent_identifiers": ["MONDO:0014750", "DOID:0110619", "OMIM:616726", "UMLS:C4225230", "medgen:898734"], "information_content": 100.0}
{"id": "MONDO:0014468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 7", "equivalent_identifiers": ["MONDO:0014468", "DOID:0110659", "OMIM:616040", "UMLS:C4015038", "medgen:863475"], "information_content": 100.0}
{"id": "HP:0025680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compound muscle action potential amplitude facilitation", "equivalent_identifiers": ["HP:0025680", "UMLS:C5676616"], "information_content": 100.0}
{"id": "MONDO:0859162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with infantile epileptic spasms", "equivalent_identifiers": ["MONDO:0859162", "OMIM:619373", "UMLS:C5543538", "medgen:1781627"], "information_content": 100.0}
{"id": "MONDO:0013835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "equivalent_identifiers": ["MONDO:0013835", "DOID:0111234", "OMIM:614643", "UMLS:C3553330", "medgen:766244"], "information_content": 100.0}
{"id": "HP:0032391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcortical heterotopia", "equivalent_identifiers": ["HP:0032391", "UMLS:C3553331"], "information_content": 84.8}
{"id": "MONDO:0008289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain small vessel disease 1 with or without ocular anomalies", "equivalent_identifiers": ["MONDO:0008289", "DOID:0090125", "OMIM:175780", "orphanet:36383", "UMLS:C2930808", "UMLS:C4551998", "MESH:C531642", "MESH:C564372", "medgen:1647320"], "information_content": 100.0}
{"id": "MONDO:0030298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioedema, hereditary, 8", "equivalent_identifiers": ["MONDO:0030298", "OMIM:619367", "UMLS:C5543528", "medgen:1780930"], "information_content": 100.0}
{"id": "MONDO:0009681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ullrich congenital muscular dystrophy 1A", "equivalent_identifiers": ["MONDO:0009681", "DOID:0060946", "OMIM:254090", "UMLS:C0410179", "medgen:98046"], "information_content": 100.0}
{"id": "HP:0006460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased laxity of ankles", "equivalent_identifiers": ["HP:0006460", "UMLS:C1850854"], "information_content": 100.0}
{"id": "HP:0030095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle collagen VI", "equivalent_identifiers": ["HP:0030095", "UMLS:C4021054"], "information_content": 100.0}
{"id": "HP:0006149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased laxity of fingers", "equivalent_identifiers": ["HP:0006149", "UMLS:C1850855"], "information_content": 100.0}
{"id": "MONDO:0012489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 23", "equivalent_identifiers": ["MONDO:0012489", "DOID:0110271", "OMIM:610425", "UMLS:C3808012", "medgen:814342"], "information_content": 100.0}
{"id": "MONDO:0859524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 86", "equivalent_identifiers": ["MONDO:0859524", "DOID:0070610", "OMIM:620280", "UMLS:C5830340", "medgen:1840976"], "information_content": 100.0}
{"id": "MONDO:0020737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 10 with or without ataxia, intellectual disability, and seizures", "equivalent_identifiers": ["MONDO:0020737", "DOID:0111434", "OMIM:616732", "UMLS:C4225227", "medgen:905727"], "information_content": 100.0}
{"id": "MONDO:0030316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 11", "equivalent_identifiers": ["MONDO:0030316", "OMIM:619401", "UMLS:C5543614", "medgen:1784862"], "information_content": 100.0}
{"id": "MONDO:0012310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosis of extraocular muscles, congenital, with synergistic divergence", "equivalent_identifiers": ["MONDO:0012310", "OMIM:609612", "UMLS:C1865040", "UMLS:C1865041", "MESH:C566508", "MESH:C566509", "medgen:351285"], "information_content": 100.0}
{"id": "MONDO:0008106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus 2, congenital, autosomal dominant", "equivalent_identifiers": ["MONDO:0008106", "DOID:0111792", "OMIM:164100", "UMLS:C1834079", "MESH:C537854", "medgen:331657"], "information_content": 100.0}
{"id": "OMIM:129000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EARRING HOLES, NATURAL", "equivalent_identifiers": ["OMIM:129000", "UMLS:C1851895"]}
{"id": "HP:0004461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital earlobe sinuses", "equivalent_identifiers": ["HP:0004461", "UMLS:C1969394"], "information_content": 100.0}
{"id": "MONDO:0800438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1", "equivalent_identifiers": ["MONDO:0800438", "DOID:0070477", "OMIM:616901", "orphanet:459061"], "information_content": 100.0}
{"id": "MONDO:0012354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 8", "equivalent_identifiers": ["MONDO:0012354", "DOID:0060692", "OMIM:609821", "orphanet:36355", "UMLS:C1853278", "UMLS:C4510945", "MESH:C565220", "SNOMEDCT:725291001", "medgen:344008", "ICD10:D69.8"], "information_content": 100.0}
{"id": "MONDO:0007620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fish eye disease", "equivalent_identifiers": ["MONDO:0007620", "OMIM:136120", "orphanet:79292", "UMLS:C0342895", "MEDDRA:10077927", "SNOMEDCT:238092004", "medgen:83354"], "information_content": 100.0}
{"id": "MONDO:0060763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities", "equivalent_identifiers": ["MONDO:0060763", "OMIM:618092", "orphanet:662829", "UMLS:C4748152", "medgen:1648327"], "information_content": 100.0}
{"id": "MONDO:0007302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical hypertrichosis with underlying kyphoscoliosis", "equivalent_identifiers": ["MONDO:0007302", "OMIM:117850", "UMLS:C1861695", "MESH:C566142", "medgen:349343"], "information_content": 100.0}
{"id": "HP:0004532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacral hypertrichosis", "equivalent_identifiers": ["HP:0004532", "UMLS:C4025313"], "information_content": 100.0}
{"id": "MONDO:0013936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 6A (Zellweger)", "equivalent_identifiers": ["MONDO:0013936", "DOID:0080481", "OMIM:614870", "UMLS:C1864399", "UMLS:C3553947", "MESH:C566422", "NCIT:C155758", "medgen:766861"], "information_content": 100.0}
{"id": "MONDO:0009425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomandibular faciocranial dysostosis", "equivalent_identifiers": ["MONDO:0009425", "OMIM:241310", "orphanet:1790", "UMLS:C1855848", "MESH:C537154", "SNOMEDCT:721845005", "medgen:343427"], "information_content": 100.0}
{"id": "MONDO:0054732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 28", "equivalent_identifiers": ["MONDO:0054732", "DOID:0111916", "OMIM:618086", "UMLS:C4748117", "medgen:1648494"], "information_content": 100.0}
{"id": "MONDO:0957795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic cardiomyopathy with variable ectodermal abnormalities", "equivalent_identifiers": ["MONDO:0957795", "OMIM:620519", "UMLS:C5882696", "medgen:1847702"], "information_content": 100.0}
{"id": "HP:0040149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Woolly scalp hair", "equivalent_identifiers": ["HP:0040149", "UMLS:C4015203", "UMLS:C4280291", "UMLS:C4280292", "UMLS:C4280293"], "information_content": 100.0}
{"id": "MONDO:0009677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2C", "equivalent_identifiers": ["MONDO:0009677", "DOID:0110277", "OMIM:253700", "orphanet:353", "UMLS:C0410173", "MESH:C535900", "medgen:98045"], "information_content": 100.0}
{"id": "MONDO:0030314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive", "equivalent_identifiers": ["MONDO:0030314", "OMIM:619398", "UMLS:C5444224", "medgen:1783277"], "information_content": 100.0}
{"id": "MONDO:0009756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Niemann-Pick disease type A", "equivalent_identifiers": ["MONDO:0009756", "DOID:0070111", "OMIM:257200", "orphanet:77292", "UMLS:C0268242", "UMLS:C2675646", "MESH:C567268", "MESH:D052536", "NCIT:C126561", "SNOMEDCT:52165006", "medgen:78650", "icd11.foundation:530611243"], "information_content": 100.0}
{"id": "HP:0002207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse reticular or finely nodular infiltrations", "equivalent_identifiers": ["HP:0002207", "UMLS:C1843428"], "information_content": 100.0}
{"id": "MONDO:0030054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 86", "equivalent_identifiers": ["MONDO:0030054", "DOID:0112220", "OMIM:618910", "UMLS:C5394462", "medgen:1711964"], "information_content": 100.0}
{"id": "MONDO:0009649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "moyamoya disease 1", "equivalent_identifiers": ["MONDO:0009649", "OMIM:252350", "UMLS:C2931384", "MESH:C536991", "SNOMEDCT:69116000", "medgen:419790"], "information_content": 100.0}
{"id": "MONDO:0004450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carotid artery occlusion", "equivalent_identifiers": ["MONDO:0004450", "DOID:807", "UMLS:C0265101", "UMLS:C0375275", "MEDDRA:10007693", "MEDDRA:10029999", "MEDDRA:10048964", "SNOMEDCT:266254007", "SNOMEDCT:69798007", "medgen:539079", "ICD9:433.10", "HP:0012474"], "information_content": 100.0}
{"id": "HP:0005291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inflammatory arteriopathy", "equivalent_identifiers": ["HP:0005291", "UMLS:C4025222"], "information_content": 100.0}
{"id": "MONDO:0007994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "micromelic bone dysplasia with cloverleaf skull", "equivalent_identifiers": ["MONDO:0007994", "OMIM:156830", "UMLS:C1834928", "MESH:C536429", "medgen:322531"], "information_content": 100.0}
{"id": "MONDO:0013458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome", "equivalent_identifiers": ["MONDO:0013458", "OMIM:613845", "orphanet:363694", "UMLS:C3151209", "SNOMEDCT:776416004", "medgen:462559"], "information_content": 100.0}
{"id": "MONDO:0014486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 30", "equivalent_identifiers": ["MONDO:0014486", "DOID:0070060", "OMIM:616083", "UMLS:C4015167", "medgen:863604"], "information_content": 100.0}
{"id": "MONDO:0033362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 53", "equivalent_identifiers": ["MONDO:0033362", "DOID:0080464", "OMIM:617389", "UMLS:C4479313", "medgen:1374886"], "information_content": 100.0}
{"id": "MONDO:0007785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperthyroxinemia, dystransthyretinemic", "equivalent_identifiers": ["MONDO:0007785", "DOID:0080219", "OMIM:145680", "UMLS:C2750824", "MESH:C567719", "medgen:442573"], "information_content": 100.0}
{"id": "MONDO:0013926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 14 with or without anosmia", "equivalent_identifiers": ["MONDO:0013926", "DOID:0090087", "OMIM:614858", "UMLS:C3540450", "medgen:761703"], "information_content": 100.0}
{"id": "MONDO:0013368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mammary-digital-nail syndrome", "equivalent_identifiers": ["MONDO:0013368", "OMIM:613689", "orphanet:238744", "UMLS:C3150946", "SNOMEDCT:718679004", "medgen:462296"], "information_content": 100.0}
{"id": "MONDO:0001100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gigantomastia", "equivalent_identifiers": ["MONDO:0001100", "DOID:10688", "UMLS:C0020565", "UMLS:C0392533", "UMLS:C2225524", "MEDDRA:10006242", "MEDDRA:10020881", "MEDDRA:10020885", "MEDDRA:10026733", "MEDDRA:10064841", "NCIT:C3125", "SNOMEDCT:372281005", "SNOMEDCT:372283008", "SNOMEDCT:372285001", "medgen:43789", "icd11.foundation:2078176266", "ICD10:N62", "ICD9:611.1", "HP:0010313"], "information_content": 92.8}
{"id": "MONDO:0008060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Growth of nails", "equivalent_identifiers": ["MONDO:0008060", "DOID:0080079", "OMIM:161050", "orphanet:79153", "UMLS:C0406443", "UMLS:C0423801", "MESH:C562907", "SNOMEDCT:238719003", "SNOMEDCT:247481005", "medgen:96056"], "information_content": 100.0}
{"id": "MONDO:0859378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 25", "equivalent_identifiers": ["MONDO:0859378", "DOID:0070401", "OMIM:620243", "UMLS:C5830275", "medgen:1840911"], "information_content": 100.0}
{"id": "MONDO:0010841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 2B", "equivalent_identifiers": ["MONDO:0010841", "DOID:0110947", "OMIM:600193", "UMLS:C1838447", "MESH:C536465", "medgen:373973"], "information_content": 100.0}
{"id": "MONDO:0011824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, 8", "equivalent_identifiers": ["MONDO:0011824", "OMIM:607373", "UMLS:C1969710", "medgen:409897"], "information_content": 100.0}
{"id": "MONDO:0032636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 33", "equivalent_identifiers": ["MONDO:0032636", "DOID:0112097", "OMIM:618253", "UMLS:C4748840", "medgen:1648420"], "information_content": 100.0}
{"id": "MONDO:0007795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mullerian duct anomalies-limb anomalies syndrome", "equivalent_identifiers": ["MONDO:0007795", "OMIM:146160", "orphanet:2491", "UMLS:C1840335", "MESH:C537155", "medgen:327078"], "information_content": 100.0}
{"id": "MONDO:0012786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 47", "equivalent_identifiers": ["MONDO:0012786", "DOID:0070353", "OMIM:612018", "orphanet:247794", "UMLS:C2677587", "UMLS:C4302529", "UMLS:C4310806", "MESH:C567434", "SNOMEDCT:722457005", "medgen:934773"], "information_content": 100.0}
{"id": "MONDO:0010214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum variant type", "equivalent_identifiers": ["MONDO:0010214", "DOID:0110847", "OMIM:278750", "orphanet:90342", "UMLS:C1848410", "MESH:C536766", "NCIT:C141367", "medgen:376352"], "information_content": 100.0}
{"id": "MONDO:0007248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary painful callosities", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007248", "OMIM:114140", "orphanet:79141", "UMLS:C1861964", "MESH:C566180", "medgen:349400"], "information_content": 100.0}
{"id": "MONDO:0014343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Desbuquois dysplasia 2", "equivalent_identifiers": ["MONDO:0014343", "OMIM:615777", "UMLS:C4014294", "medgen:862731"], "information_content": 100.0}
{"id": "HP:6000816", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent lesser trochanter", "equivalent_identifiers": ["HP:6000816", "UMLS:C3806544"], "information_content": 100.0}
{"id": "MONDO:0009785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "opsismodysplasia", "equivalent_identifiers": ["MONDO:0009785", "OMIM:258480", "orphanet:2746", "UMLS:C0432219", "MESH:C537122", "SNOMEDCT:254068007", "medgen:140927", "icd11.foundation:2147268863"], "information_content": 100.0}
{"id": "MONDO:0014008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phosphohydroxylysinuria", "equivalent_identifiers": ["MONDO:0014008", "OMIM:615011", "UMLS:C3554344", "medgen:767258", "HP:0031870"], "information_content": 100.0}
{"id": "HP:6000806", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary phosphohydroxylysine level", "equivalent_identifiers": ["HP:6000806", "UMLS:C5937532"], "information_content": 100.0}
{"id": "MONDO:0033259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 72", "equivalent_identifiers": ["MONDO:0033259", "DOID:0080268", "OMIM:617606", "UMLS:C4539886", "medgen:1614203"], "information_content": 100.0}
{"id": "MONDO:0032804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 15, hypohidrotic/hair type", "equivalent_identifiers": ["MONDO:0032804", "DOID:0111651", "OMIM:618535", "UMLS:C5193145", "medgen:1680605"], "information_content": 100.0}
{"id": "MONDO:0010442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX sex reversal 3", "equivalent_identifiers": ["MONDO:0010442", "DOID:0111762", "OMIM:300833", "UMLS:C3151782", "UMLS:C3151783", "medgen:463132"], "information_content": 100.0}
{"id": "MONDO:0012644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 2", "equivalent_identifiers": ["MONDO:0012644", "DOID:0110086", "OMIM:611263", "UMLS:C1970005", "MESH:C566982", "medgen:370804"], "information_content": 100.0}
{"id": "MONDO:0011257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MPI-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011257", "DOID:0080554", "OMIM:602579", "orphanet:79319", "UMLS:C1291610", "UMLS:C1865145", "MESH:C535740", "SNOMEDCT:1231141008", "SNOMEDCT:124668009", "medgen:400692"], "information_content": 100.0}
{"id": "HP:6000782", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue phosphomannose isomerase activity", "equivalent_identifiers": ["HP:6000782", "UMLS:C5937510"], "information_content": 100.0}
{"id": "MONDO:0008517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly-polydactyly-ear lobe syndrome", "equivalent_identifiers": ["MONDO:0008517", "OMIM:186350", "orphanet:3259", "UMLS:C1861347", "MESH:C566091", "medgen:348333"], "information_content": 100.0}
{"id": "HP:0000363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal earlobe morphology", "equivalent_identifiers": ["HP:0000363", "UMLS:C4021808"], "information_content": 80.2}
{"id": "HP:0005767", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-2 toe complete cutaneous syndactyly", "equivalent_identifiers": ["HP:0005767", "UMLS:C4025140"], "information_content": 100.0}
{"id": "MONDO:0014002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nocturnal frontal lobe epilepsy 5", "equivalent_identifiers": ["MONDO:0014002", "DOID:0060686", "OMIM:615005", "UMLS:C3554306", "medgen:767220"], "information_content": 100.0}
{"id": "MONDO:0014337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 5", "equivalent_identifiers": ["MONDO:0014337", "DOID:0090135", "OMIM:615763", "UMLS:C3810407", "NCIT:C189285", "medgen:816737"], "information_content": 100.0}
{"id": "MONDO:0007945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mannose 6-phosphate receptor recognition defect, Lebanese type", "equivalent_identifiers": ["MONDO:0007945", "OMIM:154570", "UMLS:C1835134", "MESH:C563601", "medgen:331911"], "information_content": 100.0}
{"id": "HP:0004356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of lysosomal metabolism", "equivalent_identifiers": ["HP:0004356", "UMLS:C4025342"], "information_content": 85.5}
{"id": "MONDO:0013219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic rickets, autosomal recessive, 2", "equivalent_identifiers": ["MONDO:0013219", "OMIM:613312", "UMLS:C2750078", "MESH:C567647", "medgen:442380"], "information_content": 100.0}
{"id": "MONDO:0014954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, periodontal type 2", "equivalent_identifiers": ["MONDO:0014954", "DOID:0080987", "OMIM:617174", "UMLS:C4310681", "medgen:934648"], "information_content": 100.0}
{"id": "MONDO:0032630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 26", "equivalent_identifiers": ["MONDO:0032630", "DOID:0112086", "OMIM:618247", "UMLS:C4748809", "medgen:1648283"], "information_content": 100.0}
{"id": "MONDO:0013758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease dominant intermediate E", "equivalent_identifiers": ["MONDO:0013758", "DOID:0110205", "OMIM:614455", "orphanet:93114", "UMLS:C4302667", "SNOMEDCT:722294004", "medgen:928336"], "information_content": 100.0}
{"id": "MONDO:0014444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 16", "equivalent_identifiers": ["MONDO:0014444", "DOID:0110138", "OMIM:615993", "UMLS:C3889474", "medgen:855172"], "information_content": 100.0}
{"id": "MONDO:0012266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preeclampsia/eclampsia 4", "inheritance": "Polygenic inheritance", "equivalent_identifiers": ["MONDO:0012266", "OMIM:609404", "UMLS:C1836255", "MESH:C563724", "medgen:322874"], "information_content": 100.0}
{"id": "MONDO:0007136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary anorectal anomalies", "equivalent_identifiers": ["MONDO:0007136", "OMIM:107100", "UMLS:C3495676", "MESH:D000071056", "MEDDRA:10082798", "SNOMEDCT:33225004", "medgen:501217", "HP:0012732"], "information_content": 76.9}
{"id": "MONDO:0013697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 29", "equivalent_identifiers": ["MONDO:0013697", "DOID:0081192", "OMIM:614333", "UMLS:C3280525", "medgen:482155"], "information_content": 100.0}
{"id": "OMIM:614327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TUMOR PREDISPOSITION SYNDROME 1", "equivalent_identifiers": ["OMIM:614327", "UMLS:C3280492"]}
{"id": "MONDO:0030471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 9", "equivalent_identifiers": ["MONDO:0030471", "OMIM:619603", "UMLS:C5562016", "medgen:1794226"], "information_content": 100.0}
{"id": "MONDO:8000018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign paroxysmal positional vertigo", "equivalent_identifiers": ["MONDO:8000018", "DOID:13941", "OMIM:193007", "UMLS:C0155502", "MESH:D065635", "MEDDRA:10004436", "MEDDRA:10004445", "MEDDRA:10056455", "MEDDRA:10056456", "SNOMEDCT:111541001", "SNOMEDCT:232285008", "medgen:57837", "ICD9:386.11"], "information_content": 100.0}
{"id": "HP:0034773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oscillopsia", "equivalent_identifiers": ["HP:0034773", "UMLS:C0422980", "MEDDRA:10052087", "SNOMEDCT:246650003"], "information_content": 100.0}
{"id": "MONDO:0009319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pantothenate kinase-associated neurodegeneration", "equivalent_identifiers": ["MONDO:0009319", "DOID:3981", "OMIM:234200", "orphanet:157850", "UMLS:C0018523", "MESH:D006211", "MEDDRA:10083280", "NCIT:C84988", "NCIT:C8967", "SNOMEDCT:2992000", "medgen:6708"], "information_content": 92.8}
{"id": "MONDO:0011959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sweet syndrome", "equivalent_identifiers": ["MONDO:0011959", "DOID:0080746", "OMIM:608068", "orphanet:3243", "UMLS:C0085077", "MESH:D016463", "MEDDRA:10000748", "MEDDRA:10042673", "NCIT:C85177", "SNOMEDCT:84625002", "medgen:43097", "icd11.foundation:195212152"], "information_content": 100.0}
{"id": "MONDO:0030899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 8", "equivalent_identifiers": ["MONDO:0030899", "OMIM:619165", "orphanet:597733", "UMLS:C5436929", "SNOMEDCT:1300116006", "medgen:1754121"], "information_content": 100.0}
{"id": "MONDO:0012260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 35", "equivalent_identifiers": ["MONDO:0012260", "DOID:0110261", "OMIM:609376", "UMLS:C1836272", "MESH:C563728", "medgen:373050"], "information_content": 100.0}
{"id": "MONDO:0013756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic osteoarthropathy, primary, autosomal recessive, 2", "equivalent_identifiers": ["MONDO:0013756", "OMIM:614441", "UMLS:C3280800", "medgen:482430"], "information_content": 100.0}
{"id": "MONDO:0014438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 10", "equivalent_identifiers": ["MONDO:0014438", "DOID:0110132", "OMIM:615987", "EFO:0009022", "UMLS:C1859568", "MESH:C565919", "medgen:347909"], "information_content": 100.0}
{"id": "MONDO:0009666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holocarboxylase synthetase deficiency", "equivalent_identifiers": ["MONDO:0009666", "DOID:859", "OMIM:253270", "orphanet:79242", "UMLS:C0268581", "MESH:D028922", "NCIT:C98842", "NCIT:C99247", "SNOMEDCT:15307001", "SNOMEDCT:360369003", "medgen:120653", "ICD10:D81.818"], "information_content": 95.4}
{"id": "HP:4000200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced holocarboxylase synthetase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000200", "UMLS:C5872949"], "information_content": 100.0}
{"id": "MONDO:0008717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 2C, Hunter-Thompson type", "equivalent_identifiers": ["MONDO:0008717", "DOID:0080051", "OMIM:201250", "orphanet:968", "UMLS:C2930970", "SNOMEDCT:389167007", "medgen:419681"], "information_content": 100.0}
{"id": "HP:0006011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cuboidal metacarpal", "equivalent_identifiers": ["HP:0006011", "UMLS:C4025093"], "information_content": 100.0}
{"id": "HP:0006014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally shaped carpal bones", "equivalent_identifiers": ["HP:0006014", "UMLS:C1860111"], "information_content": 85.5}
{"id": "MONDO:0013066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 3", "equivalent_identifiers": ["MONDO:0013066", "DOID:0111772", "OMIM:612965", "UMLS:C3489793", "medgen:483746"], "information_content": 100.0}
{"id": "HP:0030913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exaggerated rugosity of the labia majora", "equivalent_identifiers": ["HP:0030913", "UMLS:C4293674"], "information_content": 100.0}
{"id": "MONDO:0859234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 8b, autosomal recessive", "equivalent_identifiers": ["MONDO:0859234", "DOID:0081143", "OMIM:619824", "UMLS:C5676958", "medgen:1808468"], "information_content": 100.0}
{"id": "MONDO:0054722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geleophysic dysplasia 3", "equivalent_identifiers": ["MONDO:0054722", "DOID:0111727", "OMIM:617809", "UMLS:C4540511", "medgen:1615724"], "information_content": 100.0}
{"id": "MONDO:0011966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular heterotopia with microcephaly, autosomal recessive", "equivalent_identifiers": ["MONDO:0011966", "OMIM:608097", "UMLS:C1842563", "MESH:C564292", "medgen:334110"], "information_content": 100.0}
{"id": "MONDO:0032656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum", "equivalent_identifiers": ["MONDO:0032656", "OMIM:618284", "UMLS:C4748984", "medgen:1648355"], "information_content": 100.0}
{"id": "MONDO:0014429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "equivalent_identifiers": ["MONDO:0014429", "DOID:0111956", "OMIM:615978", "orphanet:319581", "UMLS:C4014863", "medgen:863300"], "information_content": 100.0}
{"id": "MONDO:0012562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 7", "equivalent_identifiers": ["MONDO:0012562", "DOID:0110876", "OMIM:610828", "UMLS:C1835820", "MESH:C563660", "medgen:372134"], "information_content": 100.0}
{"id": "HP:0010649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flat nasal alae", "equivalent_identifiers": ["HP:0010649", "UMLS:C4023759"], "information_content": 100.0}
{"id": "HP:0010650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the premaxilla", "equivalent_identifiers": ["HP:0010650", "UMLS:C4020770", "UMLS:C4072878"], "information_content": 95.4}
{"id": "MONDO:0014567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutamate pyruvate transaminase 2 deficiency", "equivalent_identifiers": ["MONDO:0014567", "DOID:0070542", "OMIM:616281", "orphanet:477673", "UMLS:C4225388", "UMLS:C5567787", "SNOMEDCT:1173998003", "medgen:906606"], "information_content": 100.0}
{"id": "MONDO:0009502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase E2 deficiency", "equivalent_identifiers": ["MONDO:0009502", "OMIM:245348", "orphanet:79244", "UMLS:C1855565", "MESH:C565448", "medgen:343386"], "information_content": 100.0}
{"id": "MONDO:0010261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, syndromic 2", "equivalent_identifiers": ["MONDO:0010261", "DOID:0111809", "OMIM:300166", "orphanet:2712", "UMLS:C1846265", "MESH:C537465", "SNOMEDCT:699300009", "medgen:337547"], "information_content": 100.0}
{"id": "HP:0033189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radiculomegaly", "equivalent_identifiers": ["HP:0033189", "UMLS:C5421671"], "information_content": 100.0}
{"id": "HP:0100349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the proximal interphalangeal joint of the 3rd toe", "equivalent_identifiers": ["HP:0100349", "UMLS:C4021018"], "information_content": 100.0}
{"id": "HP:0007733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laterally curved eyebrow", "equivalent_identifiers": ["HP:0007733", "UMLS:C1846266"], "information_content": 100.0}
{"id": "MONDO:0013782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism type 2E", "equivalent_identifiers": ["MONDO:0013782", "OMIM:614496", "orphanet:300530", "UMLS:C3469606", "medgen:483336", "icd11.foundation:1263491925"], "information_content": 100.0}
{"id": "MONDO:0007581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exchondrosis of pinna, posterior", "equivalent_identifiers": ["MONDO:0007581", "OMIM:133500", "UMLS:C1851463", "MESH:C565036", "medgen:377032"], "information_content": 100.0}
{"id": "MONDO:0013006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated growth hormone deficiency type IB", "equivalent_identifiers": ["MONDO:0013006", "DOID:0060874", "OMIM:612781", "orphanet:231671", "UMLS:C2748571", "MESH:C567564", "medgen:411242"], "information_content": 100.0}
{"id": "MONDO:0010371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aland island eye disease", "equivalent_identifiers": ["MONDO:0010371", "DOID:0050630", "OMIM:300600", "orphanet:178333", "UMLS:C0268505", "MESH:C562664", "SNOMEDCT:266455006", "medgen:120643"], "information_content": 100.0}
{"id": "MONDO:0040501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, arthrochalasia type, 2", "equivalent_identifiers": ["MONDO:0040501", "DOID:0080728", "OMIM:617821"], "information_content": 100.0}
{"id": "MONDO:0010378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked hereditary sensory and autonomic neuropathy with hearing loss", "equivalent_identifiers": ["MONDO:0010378", "DOID:0111741", "OMIM:300614", "orphanet:139583", "UMLS:C1845095", "UMLS:C4304400", "MESH:C564472", "NCIT:C180843", "SNOMEDCT:719838008", "medgen:930069"], "information_content": 100.0}
{"id": "HP:0004454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal middle ear reflexes", "equivalent_identifiers": ["HP:0004454", "UMLS:C1970887"], "information_content": 87.2}
{"id": "MONDO:0008768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ceroid lipofuscinosis, neuronal, 6B (Kufs type)", "equivalent_identifiers": ["MONDO:0008768", "DOID:0110730", "OMIM:204300", "UMLS:C5561927", "medgen:1794137"], "information_content": 95.4}
{"id": "MONDO:0010221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHIME syndrome", "equivalent_identifiers": ["MONDO:0010221", "DOID:0112152", "OMIM:280000", "orphanet:3474", "UMLS:C1848392", "MESH:C536729", "SNOMEDCT:720639008", "medgen:341214"], "information_content": 100.0}
{"id": "HP:0010281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft lower lip", "equivalent_identifiers": ["HP:0010281", "UMLS:C1856026"], "information_content": 100.0}
{"id": "MONDO:0010719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radiation sensitivity of natural killer activity", "equivalent_identifiers": ["MONDO:0010719", "OMIM:312210", "UMLS:C1839408", "MESH:C564066", "medgen:333311"], "information_content": 100.0}
{"id": "MONDO:0009821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RAINE SYNDROME", "equivalent_identifiers": ["MONDO:0009821", "OMIM:259775", "orphanet:1832", "UMLS:C1850106", "MESH:C535282", "MESH:C564916", "MEDDRA:10087908", "SNOMEDCT:389239007", "medgen:342416", "icd11.foundation:1306493470"], "information_content": 100.0}
{"id": "MONDO:0013772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huppke-Brendel syndrome", "equivalent_identifiers": ["MONDO:0013772", "OMIM:614482", "orphanet:300313", "UMLS:C4751114", "SNOMEDCT:773648002", "medgen:1659966"], "information_content": 100.0}
{"id": "MONDO:0009773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odonto-onycho-dermal dysplasia", "equivalent_identifiers": ["MONDO:0009773", "OMIM:257980", "orphanet:2721", "UMLS:C0796093", "MESH:C537742", "SNOMEDCT:403762003", "medgen:208666", "icd11.foundation:1256237872"], "information_content": 100.0}
{"id": "HP:0006313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widely spaced primary teeth", "equivalent_identifiers": ["HP:0006313", "UMLS:C4021603"], "information_content": 100.0}
{"id": "MONDO:0008701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achondrogenesis type IA", "equivalent_identifiers": ["MONDO:0008701", "DOID:0080054", "OMIM:200600", "orphanet:93299", "UMLS:C0265273", "MESH:C536015", "SNOMEDCT:42725006", "medgen:78546"], "information_content": 100.0}
{"id": "HP:6000654", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ischium ossification", "equivalent_identifiers": ["HP:6000654", "UMLS:C5937402"], "information_content": 100.0}
{"id": "HP:0004606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unossified vertebral bodies", "equivalent_identifiers": ["HP:0004606", "UMLS:C1860202"], "information_content": 95.4}
{"id": "HP:0006489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal femoral metaphysis morphology", "equivalent_identifiers": ["HP:0006489", "UMLS:C4025040", "UMLS:C4280444"], "information_content": 78.8}
{"id": "MONDO:0014574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PLACK syndrome", "equivalent_identifiers": ["MONDO:0014574", "DOID:0070526", "OMIM:616295", "orphanet:444138", "UMLS:C4225381", "SNOMEDCT:1237509001", "medgen:902464"], "information_content": 100.0}
{"id": "MONDO:0010669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly type 8", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010669", "DOID:0111813", "OMIM:309630", "orphanet:2498", "UMLS:C1839728", "MESH:C564100", "SNOMEDCT:715442006", "medgen:333392", "icd11.foundation:577712860"], "information_content": 100.0}
{"id": "MONDO:0011826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid deficiency 2", "equivalent_identifiers": ["MONDO:0011826", "OMIM:607398", "UMLS:C4049714", "MESH:C564577", "NCIT:C123728", "medgen:891117"], "information_content": 100.0}
{"id": "MONDO:0958235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ullrich congenital muscular dystrophy 1B", "equivalent_identifiers": ["MONDO:0958235", "DOID:0060942", "OMIM:620727", "UMLS:C5935566", "UMLS:C5935582", "medgen:1859300"], "information_content": 100.0}
{"id": "MONDO:0010148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mounier-Kuhn syndrome", "equivalent_identifiers": ["MONDO:0010148", "OMIM:275300", "orphanet:3347", "UMLS:C0040587", "UMLS:C2713583", "MESH:D014137", "MEDDRA:10044316", "MEDDRA:10082485", "NCIT:C85196", "SNOMEDCT:57451009", "medgen:11871"], "information_content": 100.0}
{"id": "HP:0006509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tracheocele", "equivalent_identifiers": ["HP:0006509", "UMLS:C0264327", "UMLS:C0340213", "UMLS:C5400262", "MEDDRA:10067511", "MEDDRA:10084368", "SNOMEDCT:14011008", "SNOMEDCT:33094002", "MESH:C000728150"], "information_content": 100.0}
{"id": "MONDO:0014865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency", "equivalent_identifiers": ["MONDO:0014865", "DOID:0112129", "OMIM:617014", "orphanet:420702", "UMLS:C4310764", "NCIT:C176614", "medgen:934731"], "information_content": 100.0}
{"id": "MONDO:0011546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heterotaxy, visceral, 2, autosomal", "equivalent_identifiers": ["MONDO:0011546", "DOID:0051017", "OMIM:605376", "UMLS:C1415817", "medgen:237904"], "information_content": 100.0}
{"id": "MONDO:0010072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda, autosomal recessive", "equivalent_identifiers": ["MONDO:0010072", "DOID:0112293", "OMIM:271600", "UMLS:C1849054", "MESH:C564797", "medgen:338604"], "information_content": 100.0}
{"id": "MONDO:0009192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolcott-Rallison syndrome", "equivalent_identifiers": ["MONDO:0009192", "DOID:0090060", "OMIM:226980", "orphanet:1667", "UMLS:C0432217", "MESH:C536739", "MEDDRA:10090582", "NCIT:C131007", "SNOMEDCT:254066006", "medgen:140926", "icd11.foundation:2096915129", "ICD10:E13"], "information_content": 100.0}
{"id": "HP:0010168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ivory epiphyses of the toes", "equivalent_identifiers": ["HP:0010168", "UMLS:C4023991"], "information_content": 79.9}
{"id": "HP:0008134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular tarsal ossification", "equivalent_identifiers": ["HP:0008134", "UMLS:C4021554", "UMLS:C4280415"], "information_content": 100.0}
{"id": "HP:0006274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced pancreatic beta cells", "equivalent_identifiers": ["HP:0006274", "UMLS:C1856904"], "information_content": 92.8}
{"id": "MONDO:0012090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 47", "equivalent_identifiers": ["MONDO:0012090", "DOID:0110570", "OMIM:608652", "UMLS:C1837609", "MESH:C563885", "medgen:324838"], "information_content": 100.0}
{"id": "MONDO:0033261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 34, with or without inflammation", "equivalent_identifiers": ["MONDO:0033261", "DOID:0080270", "OMIM:617772", "UMLS:C4521680", "medgen:1626346"], "information_content": 100.0}
{"id": "MONDO:0010998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG3-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0010998", "DOID:0080556", "OMIM:601110", "orphanet:79321", "UMLS:C1832736", "MESH:C535742", "NCIT:C126870", "SNOMEDCT:720976009", "medgen:322026"], "information_content": 100.0}
{"id": "MONDO:0010495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 5, nonphotosensitive", "equivalent_identifiers": ["MONDO:0010495", "DOID:0111868", "OMIM:300953", "UMLS:C4225420", "medgen:899675"], "information_content": 100.0}
{"id": "HP:0041068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic decreased circulating IgG1", "equivalent_identifiers": ["HP:0041068", "UMLS:C5421699"], "information_content": 92.8}
{"id": "HP:0034425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hair sulfur content", "equivalent_identifiers": ["HP:0034425", "UMLS:C4012044"], "information_content": 100.0}
{"id": "MONDO:0009890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gillessen-Kaesbach-Nishimura syndrome", "equivalent_identifiers": ["MONDO:0009890", "OMIM:263210", "UMLS:C1849762", "MESH:C564881", "medgen:376653"], "information_content": 100.0}
{"id": "HP:0032313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontotemporal hypertrichosis", "equivalent_identifiers": ["HP:0032313", "UMLS:C5139267"], "information_content": 100.0}
{"id": "MONDO:0010997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supranuclear palsy, progressive, 1", "equivalent_identifiers": ["MONDO:0010997", "OMIM:601104", "orphanet:240071", "UMLS:C4551863", "medgen:1640811"], "information_content": 100.0}
{"id": "MONDO:0007618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eng-Strom syndrome", "equivalent_identifiers": ["MONDO:0007618", "OMIM:135950", "orphanet:1937", "UMLS:C1851081", "medgen:338204"], "information_content": 100.0}
{"id": "MONDO:0011541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1J", "equivalent_identifiers": ["MONDO:0011541", "DOID:0110440", "OMIM:605362", "orphanet:217622", "UMLS:C1854368", "MESH:C565337", "medgen:343105"], "information_content": 100.0}
{"id": "MONDO:0013287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 2, autosomal recessive", "equivalent_identifiers": ["MONDO:0013287", "DOID:0060024", "DOID:0081135", "OMIM:613500", "UMLS:C3150750", "medgen:462100"], "information_content": 100.0}
{"id": "MONDO:0013202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 4C", "equivalent_identifiers": ["MONDO:0013202", "DOID:0110955", "OMIM:613266", "UMLS:C2750452", "MESH:C567679", "medgen:413310"], "information_content": 100.0}
{"id": "MONDO:0008592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricho-dento-osseous syndrome", "equivalent_identifiers": ["MONDO:0008592", "DOID:0111565", "OMIM:190320", "orphanet:3352", "UMLS:C0265333", "MESH:C536549", "SNOMEDCT:38993008", "medgen:78555", "icd11.foundation:131993435"], "information_content": 100.0}
{"id": "HP:0000264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mastoid morphology", "equivalent_identifiers": ["HP:0000264", "UMLS:C4025872"], "information_content": 89.4}
{"id": "MONDO:0011285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 1", "equivalent_identifiers": ["MONDO:0011285", "DOID:0110014", "OMIM:603075", "UMLS:C1864205", "MESH:C566411", "medgen:400475"], "information_content": 100.0}
{"id": "HP:0025574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular hemorrhage", "equivalent_identifiers": ["HP:0025574", "UMLS:C2187053"], "information_content": 92.8}
{"id": "HP:0012643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foveal hypopigmentation", "equivalent_identifiers": ["HP:0012643", "UMLS:C4022807"], "information_content": 95.4}
{"id": "MONDO:0014280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 19", "equivalent_identifiers": ["MONDO:0014280", "DOID:0060016", "DOID:0111972", "OMIM:615617", "UMLS:C3810147", "medgen:816477"], "information_content": 100.0}
{"id": "MONDO:0009090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, sensorineural, autosomal-mitochondrial type", "equivalent_identifiers": ["MONDO:0009090", "DOID:0111752", "OMIM:221745", "UMLS:C1857332", "MESH:C565637", "medgen:346566"], "information_content": 100.0}
{"id": "MONDO:0009341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mowat-Wilson syndrome", "equivalent_identifiers": ["MONDO:0009341", "DOID:0060485", "OMIM:235730", "orphanet:2152", "UMLS:C1856113", "MESH:C536990", "NCIT:C74999", "SNOMEDCT:703535000", "medgen:341067", "icd11.foundation:1985672762"], "information_content": 92.8}
{"id": "HP:0025100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hippocampus morphology", "equivalent_identifiers": ["HP:0025100", "UMLS:C4476590"], "information_content": 81.7}
{"id": "HP:0012372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eye morphology", "equivalent_identifiers": ["HP:0012372", "UMLS:C4022925"], "information_content": 51.7}
{"id": "MONDO:0007793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypochondroplasia", "equivalent_identifiers": ["MONDO:0007793", "DOID:0080041", "OMIM:146000", "orphanet:429", "UMLS:C0410529", "MESH:C562937", "MEDDRA:10020967", "NCIT:C118697", "SNOMEDCT:205468002", "medgen:98376", "icd11.foundation:1930265486", "ICD10:Q77.4"], "information_content": 100.0}
{"id": "HP:0012679", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened interpedicular distance", "equivalent_identifiers": ["HP:0012679", "UMLS:C4022784"], "information_content": 100.0}
{"id": "MONDO:0020769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Menke-Hennekam syndrome 2", "equivalent_identifiers": ["MONDO:0020769", "OMIM:618333", "EFO:0010253", "UMLS:C5193035", "medgen:1676668"], "information_content": 100.0}
{"id": "MONDO:0013794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocythemia 3", "equivalent_identifiers": ["MONDO:0013794", "OMIM:614521", "UMLS:C3281125", "medgen:482755"], "information_content": 100.0}
{"id": "HP:0031386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased micromegakaryocyte count", "equivalent_identifiers": ["HP:0031386", "UMLS:C4531161"], "information_content": 100.0}
{"id": "MONDO:0033562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia", "equivalent_identifiers": ["MONDO:0033562", "OMIM:619005", "UMLS:C5436585", "medgen:1776912"], "information_content": 100.0}
{"id": "MONDO:0014876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 54", "equivalent_identifiers": ["MONDO:0014876", "DOID:0081216", "OMIM:617028", "UMLS:C4310755", "medgen:934722"], "information_content": 100.0}
{"id": "MONDO:0012396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exercise-induced hyperinsulinism", "equivalent_identifiers": ["MONDO:0012396", "DOID:0070214", "OMIM:610021", "orphanet:165991", "UMLS:C1864902", "MESH:C538376", "NCIT:C131839", "SNOMEDCT:715830008", "medgen:351246", "icd11.foundation:999935139"], "information_content": 100.0}
{"id": "MONDO:0020837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 5", "equivalent_identifiers": ["MONDO:0020837", "OMIM:617996", "UMLS:C4693865", "medgen:1644330"], "information_content": 100.0}
{"id": "HP:0034719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lack of oocyte pronucleus formation", "equivalent_identifiers": ["HP:0034719", "UMLS:C5826611"], "information_content": 100.0}
{"id": "MONDO:0014065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 4", "equivalent_identifiers": ["MONDO:0014065", "DOID:0080113", "OMIM:615159", "UMLS:C3554607", "medgen:767521"], "information_content": 100.0}
{"id": "MONDO:0007276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cat-eye syndrome", "equivalent_identifiers": ["MONDO:0007276", "OMIM:115470", "orphanet:195", "UMLS:C0265493", "MESH:C535918", "MEDDRA:10083957", "MEDDRA:10083958", "NCIT:C75477", "SNOMEDCT:26445008", "medgen:120543", "icd11.foundation:1813923633"], "information_content": 100.0}
{"id": "MONDO:0020746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contractures, pterygia, and variable skeletal fusions syndrome 1B", "equivalent_identifiers": ["MONDO:0020746", "DOID:0081322", "OMIM:618469", "UMLS:C5193114", "medgen:1676457"], "information_content": 100.0}
{"id": "HP:0030039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fused thoracic vertebrae", "equivalent_identifiers": ["HP:0030039", "UMLS:C4022664"], "information_content": 95.4}
{"id": "MONDO:0030695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 100", "equivalent_identifiers": ["MONDO:0030695", "DOID:0070386", "OMIM:619777", "UMLS:C5676932", "medgen:1809351"], "information_content": 100.0}
{"id": "MONDO:0060707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ververi-Brady syndrome", "equivalent_identifiers": ["MONDO:0060707", "OMIM:617982", "orphanet:580940", "UMLS:C4693824", "SNOMEDCT:1220568003", "medgen:1647785"], "information_content": 100.0}
{"id": "MONDO:0970999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 92", "equivalent_identifiers": ["MONDO:0970999", "DOID:0070591", "OMIM:620848", "UMLS:C5935625", "medgen:1856349"], "information_content": 100.0}
{"id": "MONDO:0033565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oocyte maturation defect 9", "equivalent_identifiers": ["MONDO:0033565", "OMIM:619011", "UMLS:C5436599", "medgen:1724427"], "information_content": 100.0}
{"id": "MONDO:0014584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 3B", "equivalent_identifiers": ["MONDO:0014584", "DOID:0110665", "OMIM:616322", "UMLS:C4225371", "medgen:909404"], "information_content": 100.0}
{"id": "MONDO:0958037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental dysplasia of the hip 3", "equivalent_identifiers": ["MONDO:0958037", "OMIM:620690", "UMLS:C5882750", "medgen:1850976"], "information_content": 100.0}
{"id": "MONDO:0012551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia areata 2", "equivalent_identifiers": ["MONDO:0012551", "OMIM:610753", "UMLS:C1853104", "MESH:C565186", "medgen:343971"], "information_content": 100.0}
{"id": "MONDO:0009499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Krabbe disease", "equivalent_identifiers": ["MONDO:0009499", "DOID:10587", "OMIM:245200", "orphanet:487", "UMLS:C0023521", "MESH:D007965", "MEDDRA:10017611", "MEDDRA:10023492", "NCIT:C61254", "SNOMEDCT:189979005", "SNOMEDCT:192782005", "medgen:44131", "icd11.foundation:796317173", "ICD10:E75.23"], "information_content": 89.4}
{"id": "HP:0034322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue galactocerebrosidase activity", "equivalent_identifiers": ["HP:0034322", "UMLS:C5706168", "UMLS:C5970254", "UMLS:C5970255", "UMLS:C5970256"], "information_content": 100.0}
{"id": "HP:0025013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decerebrate rigidity", "equivalent_identifiers": ["HP:0025013", "UMLS:C0011103", "SNOMEDCT:30155000", "MESH:D003655"], "information_content": 100.0}
{"id": "MONDO:0010516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis", "equivalent_identifiers": ["MONDO:0010516", "DOID:0111859", "OMIM:300990", "orphanet:688581", "UMLS:C4310810", "medgen:934777"], "information_content": 100.0}
{"id": "MONDO:0015092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft hard palate", "equivalent_identifiers": ["MONDO:0015092", "orphanet:101023", "UMLS:C0432090", "SNOMEDCT:448915004", "medgen:609341", "icd11.foundation:1047415764", "HP:0410005"], "information_content": 87.2}
{"id": "MONDO:0008046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant myoglobinuria", "equivalent_identifiers": ["MONDO:0008046", "OMIM:160010", "orphanet:99846", "UMLS:C1834567", "MESH:C563546", "SNOMEDCT:725903003", "medgen:320384", "icd11.foundation:149859272"], "information_content": 100.0}
{"id": "DOID:0080533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney-Stratakis syndrome", "equivalent_identifiers": ["DOID:0080533", "OMIM:606864", "UMLS:C1847319", "MESH:C564650", "NCIT:C94831", "SNOMEDCT:722377004"], "information_content": 100.0}
{"id": "HP:0007378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neoplasm of the gastrointestinal tract", "equivalent_identifiers": ["HP:0007378", "UMLS:C0017185", "MEDDRA:10017986", "MEDDRA:10018238", "MEDDRA:10028978", "MEDDRA:10061174", "SNOMEDCT:126768004"], "information_content": 70.9}
{"id": "MONDO:0032777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus, type 10", "equivalent_identifiers": ["MONDO:0032777", "DOID:0111296", "OMIM:618482", "UMLS:C5193120", "medgen:1676426"], "information_content": 100.0}
{"id": "MONDO:0010510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 105", "equivalent_identifiers": ["MONDO:0010510", "DOID:0112036", "OMIM:300984", "UMLS:C4310816", "medgen:934783"], "information_content": 100.0}
{"id": "MONDO:0009670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 1", "equivalent_identifiers": ["MONDO:0009670", "DOID:0060559", "OMIM:253310", "orphanet:1486", "UMLS:C1854664", "MESH:C537194", "SNOMEDCT:715418007", "medgen:344338"], "information_content": 100.0}
{"id": "MONDO:0010631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "incontinentia pigmenti", "equivalent_identifiers": ["MONDO:0010631", "DOID:12305", "OMIM:308300", "orphanet:464", "UMLS:C0021171", "UMLS:C2930820", "MESH:C531716", "MESH:D007184", "MEDDRA:10077624", "MEDDRA:10077626", "NCIT:C84787", "SNOMEDCT:367520004", "medgen:7049", "icd11.foundation:1542530268", "ICD10:Q82.3"], "information_content": 100.0}
{"id": "HP:0007850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal vascular proliferation", "equivalent_identifiers": ["HP:0007850", "UMLS:C4551695"], "information_content": 100.0}
{"id": "HP:0004529", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophic, patchy alopecia", "equivalent_identifiers": ["HP:0004529", "UMLS:C4025314"], "information_content": 100.0}
{"id": "MONDO:0030993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tessadori-Van Haaften neurodevelopmental syndrome 3", "equivalent_identifiers": ["MONDO:0030993", "OMIM:619950", "UMLS:C5774310", "medgen:1824083"], "information_content": 100.0}
{"id": "HP:0500011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moon facies", "equivalent_identifiers": ["HP:0500011", "UMLS:C0332601", "MEDDRA:10011656", "MEDDRA:10027953", "SNOMEDCT:67967009"], "information_content": 100.0}
{"id": "HP:0010877", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monocular strabismus", "equivalent_identifiers": ["HP:0010877", "UMLS:C4023678"], "information_content": 100.0}
{"id": "MONDO:0032783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve disease 3", "equivalent_identifiers": ["MONDO:0032783", "DOID:0080977", "OMIM:618496", "UMLS:C5193127", "medgen:1681142"], "information_content": 100.0}
{"id": "MONDO:0008296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial porphyria cutanea tarda", "equivalent_identifiers": ["MONDO:0008296", "OMIM:176100", "orphanet:443062", "EFO:0009043", "UMLS:C0268323", "UMLS:C0342861", "MEDDRA:10076618", "SNOMEDCT:276262000", "SNOMEDCT:59229005", "medgen:75669", "icd11.foundation:1318287619"], "information_content": 95.4}
{"id": "HP:0034715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced uroporphyrinogen decarboxylase activity", "equivalent_identifiers": ["HP:0034715", "UMLS:C5826607"], "information_content": 100.0}
{"id": "MONDO:0008708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocallosal syndrome", "equivalent_identifiers": ["MONDO:0008708", "DOID:9250", "OMIM:200990", "orphanet:36", "UMLS:C0796147", "UMLS:C2931760", "UMLS:C3277723", "UMLS:C3280899", "MESH:C538177", "MESH:D055673", "MEDDRA:10083865", "MEDDRA:10083871", "NCIT:C84531", "SNOMEDCT:715951007", "medgen:162915", "icd11.foundation:1286493807"], "information_content": 100.0}
{"id": "HP:0005148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary valve defects", "equivalent_identifiers": ["HP:0005148", "UMLS:C1860165"], "information_content": 100.0}
{"id": "HP:0006329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alveolar process hypoplasia", "equivalent_identifiers": ["HP:0006329", "UMLS:C1848905", "UMLS:C3872671", "UMLS:C4280451", "UMLS:C4280452", "UMLS:C4280453", "SNOMEDCT:708494003"], "information_content": 100.0}
{"id": "HP:0001641", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulmonary valve morphology", "equivalent_identifiers": ["HP:0001641", "UMLS:C3164374", "SNOMEDCT:448643005"], "information_content": 76.0}
{"id": "HP:0000190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal oral frenulum morphology", "equivalent_identifiers": ["HP:0000190", "UMLS:C4025881"], "information_content": 88.2}
{"id": "HP:0010576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intracranial cystic lesion", "equivalent_identifiers": ["HP:0010576", "UMLS:C4021250"], "information_content": 81.3}
{"id": "MONDO:0011497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary North American Indian childhood cirrhosis", "equivalent_identifiers": ["MONDO:0011497", "OMIM:604901", "orphanet:168583", "UMLS:C1858051", "MESH:C565737", "SNOMEDCT:699189004", "medgen:387974", "icd11.foundation:1992710077"], "information_content": 100.0}
{"id": "MONDO:0007364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 2E", "equivalent_identifiers": ["MONDO:0007364", "OMIM:121070", "UMLS:C1852597", "MESH:C535384", "medgen:343844"], "information_content": 100.0}
{"id": "MONDO:0957993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6", "equivalent_identifiers": ["MONDO:0957993", "OMIM:620647", "UMLS:C5882731", "medgen:1847098"], "information_content": 100.0}
{"id": "MONDO:0014356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 7", "equivalent_identifiers": ["MONDO:0014356", "DOID:0080116", "OMIM:615824", "UMLS:C4014408", "medgen:862845"], "information_content": 100.0}
{"id": "MONDO:0013666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome, type 5", "equivalent_identifiers": ["MONDO:0013666", "OMIM:614284", "UMLS:C3280342", "medgen:481972"], "information_content": 100.0}
{"id": "MONDO:0011549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 1", "equivalent_identifiers": ["MONDO:0011549", "DOID:0110698", "OMIM:605389", "UMLS:C4551976", "medgen:1644234"], "information_content": 100.0}
{"id": "MONDO:0859316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iron overload, susceptibility to", "equivalent_identifiers": ["MONDO:0859316", "OMIM:620121", "UMLS:C5703292", "medgen:1814970"], "information_content": 100.0}
{"id": "MONDO:0014661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex with nail dystrophy", "equivalent_identifiers": ["MONDO:0014661", "OMIM:616487", "UMLS:C4225309", "medgen:906476"], "information_content": 100.0}
{"id": "MONDO:0044205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shwachman-Diamond syndrome 2", "equivalent_identifiers": ["MONDO:0044205", "OMIM:617941", "UMLS:C4693704", "medgen:1634617"], "information_content": 100.0}
{"id": "MONDO:0859320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex I deficiency, nuclear type 39", "equivalent_identifiers": ["MONDO:0859320", "OMIM:620135", "UMLS:C5774258", "medgen:1824031"], "information_content": 100.0}
{"id": "MONDO:0030920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 54", "equivalent_identifiers": ["MONDO:0030920", "DOID:0080230", "OMIM:617799", "EFO:0009164", "UMLS:C4540484", "medgen:1614787"], "information_content": 100.0}
{"id": "MONDO:0014359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigmented nodular adrenocortical disease, primary, 4", "equivalent_identifiers": ["MONDO:0014359", "DOID:0070549", "OMIM:615830", "UMLS:C4014425", "medgen:862862"], "information_content": 100.0}
{"id": "MONDO:0957999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly", "equivalent_identifiers": ["MONDO:0957999", "OMIM:620653", "UMLS:C5882733", "medgen:1850178"], "information_content": 100.0}
{"id": "HP:0009905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin ear helix", "equivalent_identifiers": ["HP:0009905", "UMLS:C4024164"], "information_content": 100.0}
{"id": "MONDO:0032845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 39", "equivalent_identifiers": ["MONDO:0032845", "DOID:0111926", "OMIM:618643", "UMLS:C5231438", "medgen:1684778"], "information_content": 100.0}
{"id": "MONDO:0010369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus 5, congenital, X-linked", "equivalent_identifiers": ["MONDO:0010369", "DOID:0111796", "OMIM:300589", "UMLS:C1845116", "MESH:C564478", "medgen:375583"], "information_content": 100.0}
{"id": "HP:0011515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal stereopsis", "equivalent_identifiers": ["HP:0011515", "UMLS:C4023319"], "information_content": 100.0}
{"id": "MONDO:0008606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Say-field-Coldwell syndrome", "equivalent_identifiers": ["MONDO:0008606", "OMIM:190650", "UMLS:C1860805", "MESH:C536619", "SNOMEDCT:733456002", "medgen:348711"], "information_content": 100.0}
{"id": "HP:0006572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subacute progressive viral hepatitis", "equivalent_identifiers": ["HP:0006572", "UMLS:C1861901"], "information_content": 100.0}
{"id": "MONDO:0014168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to CORO1A deficiency", "equivalent_identifiers": ["MONDO:0014168", "DOID:0060019", "OMIM:615401", "orphanet:228003", "UMLS:C3809383", "SNOMEDCT:1229942009", "medgen:815713", "icd11.foundation:575769539"], "information_content": 100.0}
{"id": "HP:4000166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Post-vaccination varicella zoster virus infection", "equivalent_identifiers": ["HP:4000166", "UMLS:C5826896"], "information_content": 100.0}
{"id": "MONDO:0013111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "equivalent_identifiers": ["MONDO:0013111", "DOID:0080778", "OMIM:613070", "orphanet:217371", "UMLS:C3278664", "medgen:480294"], "information_content": 100.0}
{"id": "HP:0200125", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitochondrial respiratory chain defects", "equivalent_identifiers": ["HP:0200125", "UMLS:C2751582"], "information_content": 100.0}
{"id": "MONDO:0014495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014495", "OMIM:616108", "orphanet:436245", "UMLS:C4015242", "SNOMEDCT:1220597000", "medgen:863679"], "information_content": 100.0}
{"id": "MONDO:0007200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharonasofacial malformation syndrome", "equivalent_identifiers": ["MONDO:0007200", "OMIM:110050", "orphanet:1252", "UMLS:C0796197", "MESH:C536303", "SNOMEDCT:717913006", "medgen:163226"], "information_content": 100.0}
{"id": "MONDO:0009122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dohle bodies and leukemia", "equivalent_identifiers": ["MONDO:0009122", "OMIM:223350", "UMLS:C1857225", "MESH:C565617", "medgen:346548"], "information_content": 100.0}
{"id": "MONDO:0029134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to CARMIL2 deficiency", "equivalent_identifiers": ["MONDO:0029134", "DOID:0111984", "OMIM:618131", "orphanet:542301", "UMLS:C4748304", "medgen:1648422"], "information_content": 100.0}
{"id": "MONDO:0022799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cold urticaria", "equivalent_identifiers": ["MONDO:0022799", "EFO:1001881", "UMLS:C0221207", "MESH:D000096703", "MEDDRA:10009869", "MEDDRA:10009870", "MEDDRA:10046741", "SNOMEDCT:74774004", "medgen:472942", "icd11.foundation:915116593", "HP:0410135"], "information_content": 100.0}
{"id": "MONDO:0014174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal-hepatic-pancreatic dysplasia 2", "equivalent_identifiers": ["MONDO:0014174", "OMIM:615415", "UMLS:C3809434", "medgen:815764"], "information_content": 100.0}
{"id": "MONDO:0013375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klippel-Feil syndrome 3, autosomal dominant", "equivalent_identifiers": ["MONDO:0013375", "DOID:0080591", "OMIM:613702", "UMLS:C3150967", "medgen:462317"], "information_content": 100.0}
{"id": "HP:0030281", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical C3/C4 vertebral fusion", "equivalent_identifiers": ["HP:0030281", "UMLS:C4022538"], "information_content": 100.0}
{"id": "MONDO:0021018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", "equivalent_identifiers": ["MONDO:0021018", "DOID:0110305", "OMIM:603511", "orphanet:34516", "UMLS:C3148763", "UMLS:C3501858", "UMLS:C4721885", "MESH:C566370", "MESH:C566589", "SNOMEDCT:719987009", "medgen:1648441"], "information_content": 100.0}
{"id": "MONDO:0009215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group A", "equivalent_identifiers": ["MONDO:0009215", "DOID:0111095", "OMIM:227650", "EFO:0009044", "UMLS:C1856796", "UMLS:C1856797", "UMLS:C3469521", "MESH:C565572", "MESH:C565573", "NCIT:C125702", "medgen:483333"], "information_content": 92.8}
{"id": "MONDO:0014152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left ventricular noncompaction 8", "equivalent_identifiers": ["MONDO:0014152", "DOID:0081157", "OMIM:615373", "UMLS:C3809288", "medgen:815618"], "information_content": 100.0}
{"id": "MONDO:0030448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 86", "equivalent_identifiers": ["MONDO:0030448", "DOID:0061056", "OMIM:619549", "UMLS:C5561995", "medgen:1794205"], "information_content": 100.0}
{"id": "MONDO:0033046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 8", "equivalent_identifiers": ["MONDO:0033046", "DOID:0080255", "OMIM:617564", "UMLS:C4479655", "medgen:1390366"], "information_content": 100.0}
{"id": "HP:0011126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nephroptosis", "equivalent_identifiers": ["HP:0011126", "UMLS:C1384594", "MEDDRA:10016783", "MEDDRA:10023423", "MEDDRA:10027784", "MEDDRA:10029158"], "information_content": 100.0}
{"id": "MONDO:0009109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lysinuric protein intolerance", "equivalent_identifiers": ["MONDO:0009109", "DOID:0060439", "OMIM:222700", "orphanet:470", "UMLS:C0268647", "MESH:C562687", "MEDDRA:10058300", "NCIT:C121563", "SNOMEDCT:303852004", "medgen:75704", "icd11.foundation:972050440"], "information_content": 100.0}
{"id": "HP:0500142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypolysinemia", "equivalent_identifiers": ["HP:0500142", "UMLS:C4732897"], "information_content": 95.4}
{"id": "MONDO:0007158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", "equivalent_identifiers": ["MONDO:0007158", "DOID:0111608", "OMIM:108145", "orphanet:1154", "UMLS:C1862472", "MESH:C537737", "SNOMEDCT:715217004", "medgen:350678"], "information_content": 100.0}
{"id": "HP:0006251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited wrist extension", "equivalent_identifiers": ["HP:0006251", "UMLS:C1862481"], "information_content": 100.0}
{"id": "HP:0003725", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Firm muscles", "equivalent_identifiers": ["HP:0003725", "UMLS:C1850656"], "information_content": 100.0}
{"id": "MONDO:0014723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PMP22-RAI1 contiguous gene duplication syndrome", "equivalent_identifiers": ["MONDO:0014723", "OMIM:616652", "orphanet:477817", "UMLS:C4225255", "SNOMEDCT:1172899000", "medgen:894862"], "information_content": 100.0}
{"id": "MONDO:0030453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 97", "equivalent_identifiers": ["MONDO:0030453", "DOID:0070383", "OMIM:619561", "UMLS:C5561999", "medgen:1794209"], "information_content": 100.0}
{"id": "MONDO:0011762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 22", "equivalent_identifiers": ["MONDO:0011762", "DOID:0110480", "OMIM:607039", "UMLS:C1846896", "MESH:C564633", "medgen:339636"], "information_content": 100.0}
{"id": "MONDO:0957580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bleeding disorder, platelet-type, 25", "equivalent_identifiers": ["MONDO:0957580", "OMIM:620486", "UMLS:C5882683", "medgen:1846290"], "information_content": 100.0}
{"id": "MONDO:0009173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital enteropathy due to enteropeptidase deficiency", "equivalent_identifiers": ["MONDO:0009173", "DOID:0111667", "OMIM:226200", "orphanet:168601", "UMLS:C0268416", "MESH:C562649", "SNOMEDCT:124498007", "SNOMEDCT:190952002", "SNOMEDCT:56661000", "medgen:82802"], "information_content": 100.0}
{"id": "HP:0007609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoproteinemic edema", "equivalent_identifiers": ["HP:0007609", "UMLS:C4024832"], "information_content": 100.0}
{"id": "MONDO:0013869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenine phosphoribosyltransferase deficiency", "equivalent_identifiers": ["MONDO:0013869", "DOID:0060350", "OMIM:614723", "orphanet:976", "UMLS:C0268120", "UMLS:C3665382", "MESH:C538228", "MEDDRA:10072609", "NCIT:C121564", "SNOMEDCT:124274002", "medgen:82772", "icd11.foundation:753682703"], "information_content": 100.0}
{"id": "HP:0034279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2,8-dihydroxyadenine crystalluria", "equivalent_identifiers": ["HP:0034279", "UMLS:C5676845"], "information_content": 100.0}
{"id": "HP:6000803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary 2,8-dihydroxyadenine level", "equivalent_identifiers": ["HP:6000803", "UMLS:C5937529"], "information_content": 100.0}
{"id": "MONDO:0008615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tune deafness", "equivalent_identifiers": ["MONDO:0008615", "OMIM:191200", "UMLS:C0271511", "UMLS:C1860646", "MESH:C566019", "MEDDRA:10051520", "SNOMEDCT:55647004", "medgen:349862"], "information_content": 100.0}
{"id": "MONDO:0014182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 88", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014182", "DOID:0110533", "OMIM:615429", "UMLS:C2829267", "medgen:811084"], "information_content": 100.0}
{"id": "MONDO:0700343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monilethrix-1", "equivalent_identifiers": ["MONDO:0700343", "OMIM:158000"], "information_content": 100.0}
{"id": "HP:0007468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perifollicular hyperkeratosis", "equivalent_identifiers": ["HP:0007468", "UMLS:C4024867"], "information_content": 100.0}
{"id": "MONDO:0024563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes simplex encephalitis, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0024563", "OMIM:610551", "UMLS:C2750180", "medgen:413772"], "information_content": 100.0}
{"id": "MONDO:0010665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilson-Turner syndrome", "equivalent_identifiers": ["MONDO:0010665", "DOID:0060814", "OMIM:309585", "orphanet:3459", "UMLS:C1839736", "MESH:C536708", "SNOMEDCT:719834005", "medgen:333393", "icd11.foundation:2015561482"], "information_content": 100.0}
{"id": "MONDO:0859199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with or without intellectual impairment or behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859199", "OMIM:619575", "UMLS:C5562004", "medgen:1794214"], "information_content": 100.0}
{"id": "MONDO:0007932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 2", "equivalent_identifiers": ["MONDO:0007932", "DOID:0110015", "OMIM:153800", "UMLS:C3495438", "MESH:C562479", "medgen:501183"], "information_content": 100.0}
{"id": "OMIM:618680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5", "equivalent_identifiers": ["OMIM:618680", "UMLS:C5231459"]}
{"id": "MONDO:0014811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar atrophy, visual impairment, and psychomotor retardation;", "equivalent_identifiers": ["MONDO:0014811", "DOID:0081276", "OMIM:616875", "UMLS:C4225172", "medgen:905041"], "information_content": 100.0}
{"id": "MONDO:0030089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus, permanent neonatal 4", "equivalent_identifiers": ["MONDO:0030089", "OMIM:618858", "UMLS:C5394307", "medgen:1711191"], "information_content": 100.0}
{"id": "MONDO:0008217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvis-shoulder dysplasia", "equivalent_identifiers": ["MONDO:0008217", "OMIM:169550", "orphanet:2839", "UMLS:C1868508", "MESH:C566811", "SNOMEDCT:719298001", "medgen:356991"], "information_content": 100.0}
{"id": "MONDO:0975842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 96", "equivalent_identifiers": ["MONDO:0975842", "OMIM:621001", "UMLS:C5975503"], "information_content": 100.0}
{"id": "HP:0030338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating gonadotropin concentration", "equivalent_identifiers": ["HP:0030338", "UMLS:C4072886"], "information_content": 84.2}
{"id": "MONDO:0010965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 6", "equivalent_identifiers": ["MONDO:0010965", "DOID:0110512", "OMIM:600971", "UMLS:C1832992", "MESH:C563418", "medgen:322088"], "information_content": 100.0}
{"id": "MONDO:0011600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 4A", "equivalent_identifiers": ["MONDO:0011600", "DOID:0110678", "OMIM:605809", "UMLS:C4225413", "medgen:908188"], "information_content": 100.0}
{"id": "MONDO:0010963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 6", "equivalent_identifiers": ["MONDO:0010963", "DOID:0110584", "OMIM:600965", "UMLS:C1833021", "MESH:C563421", "medgen:331419"], "information_content": 100.0}
{"id": "MONDO:0010277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Shashi type", "equivalent_identifiers": ["MONDO:0010277", "DOID:0060826", "OMIM:300238", "orphanet:85286", "UMLS:C1846145", "UMLS:C4305085", "MESH:C537135", "SNOMEDCT:718900002", "medgen:335348"], "information_content": 100.0}
{"id": "MONDO:0012370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 51", "equivalent_identifiers": ["MONDO:0012370", "DOID:0110508", "OMIM:609941", "UMLS:C1864968", "MESH:C538202", "medgen:355880"], "information_content": 100.0}
{"id": "MONDO:0957221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 70, autosomal recessive", "equivalent_identifiers": ["MONDO:0957221", "DOID:0070454", "OMIM:620323"], "information_content": 100.0}
{"id": "MONDO:0014798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A1D", "equivalent_identifiers": ["MONDO:0014798", "DOID:0110978", "OMIM:616849", "UMLS:C4225183", "medgen:903193"], "information_content": 100.0}
{"id": "MONDO:0011674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease dominant intermediate B", "equivalent_identifiers": ["MONDO:0011674", "DOID:0110197", "OMIM:606482", "orphanet:100044", "UMLS:C1847902", "UMLS:C1847903", "MESH:C564703", "MESH:C564704", "SNOMEDCT:765745007", "medgen:338346"], "information_content": 95.4}
{"id": "MONDO:0011939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spondyloenchondrodysplasia with immune dysregulation", "equivalent_identifiers": ["MONDO:0011939", "OMIM:607944", "orphanet:1855", "UMLS:C1842763", "MESH:C564307", "SNOMEDCT:703523004", "medgen:375009"], "information_content": 100.0}
{"id": "HP:0007526", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypopigmented skin patches on arms", "equivalent_identifiers": ["HP:0007526", "UMLS:C4024852"], "information_content": 100.0}
{"id": "MONDO:0014165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "equivalent_identifiers": ["MONDO:0014165", "DOID:0080140", "OMIM:615398", "orphanet:369837", "UMLS:C1863767", "UMLS:C3809356", "MESH:C566367", "medgen:815686"], "information_content": 100.0}
{"id": "MONDO:0008993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate-stapes fixation-oligodontia syndrome", "equivalent_identifiers": ["MONDO:0008993", "OMIM:216300", "orphanet:2010", "UMLS:C1859081", "MESH:C565844", "medgen:347795"], "information_content": 100.0}
{"id": "MONDO:0957531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with microcephaly and movement abnormalities", "equivalent_identifiers": ["MONDO:0957531", "OMIM:620445", "UMLS:C5830624", "medgen:1841260"], "information_content": 100.0}
{"id": "HP:0034373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "External tibial torsion", "equivalent_identifiers": ["HP:0034373", "UMLS:C0575995", "MEDDRA:10064520", "SNOMEDCT:299229000"], "information_content": 100.0}
{"id": "MONDO:0010266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 58", "equivalent_identifiers": ["MONDO:0010266", "DOID:0112024", "OMIM:300210", "UMLS:C1846174", "MESH:C564566", "medgen:337526"], "information_content": 100.0}
{"id": "MONDO:0010936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 7", "equivalent_identifiers": ["MONDO:0010936", "DOID:0111227", "OMIM:600795", "UMLS:C1833296", "MESH:C563708", "MESH:C579991", "SNOMEDCT:702393003", "medgen:318833"], "information_content": 100.0}
{"id": "MONDO:0957537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 58", "equivalent_identifiers": ["MONDO:0957537", "OMIM:620451", "UMLS:C5830641", "medgen:1841277"], "information_content": 100.0}
{"id": "MONDO:0009744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 1", "equivalent_identifiers": ["MONDO:0009744", "DOID:0110721", "OMIM:256730", "orphanet:228329", "UMLS:C1850451", "MESH:C564953", "NCIT:C85861", "SNOMEDCT:720830009", "medgen:340540"], "information_content": 100.0}
{"id": "HP:6000783", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue palmitoyl-protein thioesterase activity", "equivalent_identifiers": ["HP:6000783", "UMLS:C5937511"], "information_content": 100.0}
{"id": "MONDO:0010723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 2", "equivalent_identifiers": ["MONDO:0010723", "DOID:0110415", "OMIM:312600", "UMLS:C2681923", "MESH:C567523", "medgen:394544"], "information_content": 100.0}
{"id": "MONDO:0011203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies", "equivalent_identifiers": ["MONDO:0011203", "OMIM:602196", "UMLS:C1865783", "MESH:C535775", "medgen:355549"], "information_content": 100.0}
{"id": "HP:0001965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal scalp morphology", "equivalent_identifiers": ["HP:0001965", "UMLS:C4025734"], "information_content": 78.5}
{"id": "HP:0006631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic distal segments of scapulae", "equivalent_identifiers": ["HP:0006631", "UMLS:C4025014"], "information_content": 100.0}
{"id": "MONDO:0013490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts 2A", "equivalent_identifiers": ["MONDO:0013490", "DOID:0080318", "OMIM:613925", "UMLS:C3151355", "medgen:462705"], "information_content": 100.0}
{"id": "MONDO:0030029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal dysplasia, mild, with joint laxity and advanced bone age", "equivalent_identifiers": ["MONDO:0030029", "OMIM:618870", "UMLS:C5394341", "medgen:1711043"], "information_content": 100.0}
{"id": "MONDO:0014734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 14", "equivalent_identifiers": ["MONDO:0014734", "OMIM:616685", "UMLS:C4225245", "medgen:903934"], "information_content": 100.0}
{"id": "OMIM:602197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3", "equivalent_identifiers": ["OMIM:602197", "UMLS:C1865782"]}
{"id": "MONDO:0011603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GNE myopathy", "equivalent_identifiers": ["MONDO:0011603", "DOID:0080718", "OMIM:605820", "orphanet:602", "UMLS:C1833373", "UMLS:C1853926", "MESH:C536816", "MESH:C538329", "MEDDRA:10075048", "MEDDRA:10077945", "NCIT:C176900", "SNOMEDCT:702382000", "medgen:381298"], "information_content": 100.0}
{"id": "HP:0003791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deposits immunoreactive to beta-amyloid protein", "equivalent_identifiers": ["HP:0003791", "UMLS:C1853934"], "information_content": 100.0}
{"id": "MONDO:0009745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 5", "equivalent_identifiers": ["MONDO:0009745", "DOID:0110728", "OMIM:256731", "orphanet:228360", "UMLS:C1850442", "MESH:C575534", "NCIT:C192090", "medgen:376792"], "information_content": 100.0}
{"id": "MONDO:0957536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal dominant 73", "equivalent_identifiers": ["MONDO:0957536", "DOID:0061046", "OMIM:620450", "UMLS:C5830636", "medgen:1841272"], "information_content": 100.0}
{"id": "HP:0012412", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature adrenarche", "equivalent_identifiers": ["HP:0012412", "NCIT:C113337", "UMLS:C0342546", "MEDDRA:10036589", "SNOMEDCT:103021001"], "information_content": 100.0}
{"id": "MONDO:0008236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phlebectasia of lips", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0008236", "OMIM:171450", "UMLS:C1868391", "MESH:C566806", "medgen:356962"], "information_content": 100.0}
{"id": "HP:0000159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lip morphology", "equivalent_identifiers": ["HP:0000159", "UMLS:C2183966"], "information_content": 69.3}
{"id": "MONDO:0014733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4K", "equivalent_identifiers": ["MONDO:0014733", "DOID:0110187", "OMIM:616684", "orphanet:391351", "UMLS:C4225246", "SNOMEDCT:765047006", "medgen:895560"], "information_content": 100.0}
{"id": "MONDO:0014166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal nocturnal hemoglobinuria 2", "equivalent_identifiers": ["MONDO:0014166", "OMIM:615399", "UMLS:C3809369", "medgen:815699"], "information_content": 100.0}
{"id": "MONDO:0013492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia-intellectual disability syndrome 3", "equivalent_identifiers": ["MONDO:0013492", "DOID:0080951", "OMIM:613930", "UMLS:C3151362", "medgen:462712"], "information_content": 100.0}
{"id": "MONDO:0011675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth Disease, axonal, type 2GG", "equivalent_identifiers": ["MONDO:0011675", "DOID:0110202", "OMIM:606483", "orphanet:100043", "UMLS:C5561933", "MESH:C564702", "SNOMEDCT:765744006", "medgen:1794143"], "information_content": 100.0}
{"id": "MONDO:0012381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism due to INSR deficiency", "equivalent_identifiers": ["MONDO:0012381", "DOID:0070220", "OMIM:609968", "orphanet:263458", "UMLS:C1864952", "UMLS:C4303474", "MESH:C566494", "SNOMEDCT:721235003", "medgen:355335"], "information_content": 100.0}
{"id": "HP:0034384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating insulin:C-peptide ratio", "equivalent_identifiers": ["HP:0034384", "UMLS:C5706201"], "information_content": 100.0}
{"id": "MONDO:0958188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C1Q deficiency 3", "equivalent_identifiers": ["MONDO:0958188", "OMIM:620322", "UMLS:C5830423", "medgen:1841059"], "information_content": 100.0}
{"id": "HP:0007274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent bacterial meningitis", "equivalent_identifiers": ["HP:0007274", "UMLS:C1845604"], "information_content": 100.0}
{"id": "HP:0034601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating C1q concentration", "equivalent_identifiers": ["HP:0034601", "UMLS:C5826513"], "information_content": 100.0}
{"id": "MONDO:0010363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 91", "equivalent_identifiers": ["MONDO:0010363", "DOID:0112043", "OMIM:300577", "UMLS:C1845142", "MESH:C564482", "medgen:375592"], "information_content": 100.0}
{"id": "MONDO:0015353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 5A", "equivalent_identifiers": ["MONDO:0015353", "OMIM:600794"], "information_content": 100.0}
{"id": "MONDO:0958194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial microsomia 2", "equivalent_identifiers": ["MONDO:0958194", "OMIM:620444", "UMLS:C5781610", "medgen:1830923"], "information_content": 100.0}
{"id": "HP:0020223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermal sinus tract", "equivalent_identifiers": ["HP:0020223", "UMLS:C5706141", "SNOMEDCT:1303909005"], "information_content": 100.0}
{"id": "MONDO:0010267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic muscle weakness, X-linked", "inheritance": "X-linked inheritance", "equivalent_identifiers": ["MONDO:0010267", "OMIM:300211", "UMLS:C1846173", "MESH:C564565", "medgen:337525"], "information_content": 100.0}
{"id": "MONDO:0012891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 2C", "equivalent_identifiers": ["MONDO:0012891", "DOID:0060269", "OMIM:612390", "UMLS:C2676465", "MESH:C567324", "medgen:382856"], "information_content": 100.0}
{"id": "MONDO:0009469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign recurrent intrahepatic cholestasis type 1", "equivalent_identifiers": ["MONDO:0009469", "DOID:0070231", "OMIM:243300", "orphanet:99960", "UMLS:C4551899", "medgen:1637492"], "information_content": 100.0}
{"id": "MONDO:0008216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvic lipomatosis with crossed renal ectopia", "equivalent_identifiers": ["MONDO:0008216", "OMIM:169545", "UMLS:C1868511", "MESH:C566812", "medgen:356994"], "information_content": 100.0}
{"id": "MONDO:0006593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvic lipomatosis", "equivalent_identifiers": ["MONDO:0006593", "DOID:3927", "EFO:1000748", "UMLS:C0406608", "MESH:C535549", "NCIT:C27486", "SNOMEDCT:190802005", "medgen:96064", "HP:0034009"], "information_content": 100.0}
{"id": "MONDO:0014804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sideroblastic anemia 3", "equivalent_identifiers": ["MONDO:0014804", "DOID:0080343", "OMIM:616860", "orphanet:255132", "UMLS:C4225155", "UMLS:C4304054", "SNOMEDCT:720465002", "medgen:895975"], "information_content": 100.0}
{"id": "MONDO:0032872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 42", "equivalent_identifiers": ["MONDO:0032872", "DOID:0111855", "OMIM:618695", "UMLS:C5231464", "NCIT:C202610", "medgen:1684665"], "information_content": 100.0}
{"id": "MONDO:0010696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omphalocele, X-linked", "equivalent_identifiers": ["MONDO:0010696", "OMIM:310980", "UMLS:C3275625", "medgen:477256"], "information_content": 100.0}
{"id": "MONDO:0030024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities", "equivalent_identifiers": ["MONDO:0030024", "OMIM:618859", "UMLS:C5394311", "medgen:1714862"], "information_content": 100.0}
{"id": "MONDO:0032868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lessel-kubisch syndrome", "equivalent_identifiers": ["MONDO:0032868", "OMIM:618681", "EFO:0010632", "UMLS:C5231460", "medgen:1684750"], "information_content": 100.0}
{"id": "HP:0005866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opposable triphalangeal thumb", "equivalent_identifiers": ["HP:0005866", "UMLS:C4025122"], "information_content": 100.0}
{"id": "MONDO:0011599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "birdshot chorioretinopathy", "equivalent_identifiers": ["MONDO:0011599", "DOID:0111079", "OMIM:605808", "orphanet:179", "UMLS:C1853959", "MESH:C537630", "MESH:D000080365", "MEDDRA:10072959", "SNOMEDCT:231981005", "medgen:340098", "icd11.foundation:1954035043", "HP:0030952"], "information_content": 100.0}
{"id": "MONDO:0006918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior uveitis", "equivalent_identifiers": ["MONDO:0006918", "DOID:12574", "EFO:1001119", "UMLS:C0042167", "MESH:D015866", "MEDDRA:10036370", "SNOMEDCT:43363007", "medgen:22597", "HP:0012123"], "information_content": 82.1}
{"id": "HP:0000532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal chorioretinal morphology", "equivalent_identifiers": ["HP:0000532", "UMLS:C4025844"], "information_content": 79.6}
{"id": "MONDO:0957572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 9", "equivalent_identifiers": ["MONDO:0957572", "OMIM:620478", "UMLS:C5882678", "medgen:1844414"], "information_content": 100.0}
{"id": "HP:6000021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating thrombopoietin concentration", "equivalent_identifiers": ["HP:6000021", "UMLS:C5936912"], "information_content": 100.0}
{"id": "MONDO:0975846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type 1DD", "equivalent_identifiers": ["MONDO:0975846", "OMIM:301133", "UMLS:C5974887"], "information_content": 100.0}
{"id": "HP:0034782", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Obstipation", "equivalent_identifiers": ["HP:0034782", "UMLS:C0221152", "UMLS:C5826658", "MEDDRA:10029932", "SNOMEDCT:111360009"], "information_content": 100.0}
{"id": "MONDO:0007640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sorsby fundus dystrophy", "equivalent_identifiers": ["MONDO:0007640", "DOID:0090114", "OMIM:136900", "orphanet:59181", "UMLS:C1850938", "MESH:C564992", "SNOMEDCT:193410003", "medgen:338164", "icd11.foundation:796458172"], "information_content": 95.4}
{"id": "MONDO:0013874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid deficiency 4", "equivalent_identifiers": ["MONDO:0013874", "OMIM:614736", "UMLS:C3553587", "NCIT:C131452", "medgen:766501"], "information_content": 100.0}
{"id": "MONDO:0012871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jervell and Lange-Nielsen syndrome 2", "equivalent_identifiers": ["MONDO:0012871", "OMIM:612347", "UMLS:C2676723", "MESH:C567343", "medgen:394108"], "information_content": 100.0}
{"id": "MONDO:0013545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation, familial, 12", "equivalent_identifiers": ["MONDO:0013545", "OMIM:614050", "UMLS:C3279695", "medgen:481325"], "information_content": 100.0}
{"id": "MONDO:0030458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, Type 2HH", "equivalent_identifiers": ["MONDO:0030458", "OMIM:619574", "UMLS:C5562003", "medgen:1794213"], "information_content": 100.0}
{"id": "HP:0031986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyminimyoclonus", "equivalent_identifiers": ["HP:0031986", "UMLS:C4732793", "UMLS:C5936778"], "information_content": 100.0}
{"id": "MONDO:0014719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 35", "equivalent_identifiers": ["MONDO:0014719", "DOID:0080458", "OMIM:616647", "orphanet:457375", "UMLS:C4225256", "SNOMEDCT:1208747005", "medgen:904159"], "information_content": 100.0}
{"id": "MONDO:0012874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis 6, disseminated superficial actinic type", "equivalent_identifiers": ["MONDO:0012874", "OMIM:612353", "UMLS:C2676508", "MESH:C567339", "medgen:394063"], "information_content": 100.0}
{"id": "MONDO:0958181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial trifunctional protein deficiency 1", "equivalent_identifiers": ["MONDO:0958181", "DOID:0070619", "OMIM:609015", "UMLS:C5830705"], "information_content": 100.0}
{"id": "HP:6001023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6001023", "UMLS:C5970356"], "information_content": 100.0}
{"id": "HP:6001024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:6001024", "UMLS:C5970357"], "information_content": 100.0}
{"id": "MONDO:0010407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked syndromic, Turner type", "equivalent_identifiers": ["MONDO:0010407", "DOID:0060811", "OMIM:309590", "UMLS:C0796003", "UMLS:C2678046", "MESH:C563154", "MESH:C567476", "SNOMEDCT:721875000", "SNOMEDCT:725912001", "medgen:394425"], "information_content": 100.0}
{"id": "MONDO:0011080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive deafness with stapes fixation", "equivalent_identifiers": ["MONDO:0011080", "OMIM:601449", "orphanet:3235", "UMLS:C1832354", "MESH:C563316", "SNOMEDCT:715529009", "medgen:330446", "icd11.foundation:1909954882"], "information_content": 100.0}
{"id": "MONDO:0010927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 3", "equivalent_identifiers": ["MONDO:0010927", "DOID:0080397", "OMIM:600757", "UMLS:C1833369", "MESH:C563448", "medgen:318860"], "information_content": 100.0}
{"id": "MONDO:0010097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tatsumi factor deficiency", "equivalent_identifiers": ["MONDO:0010097", "OMIM:272650", "UMLS:C1848931", "MESH:C564787", "medgen:336460"], "information_content": 100.0}
{"id": "MONDO:0011471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 3", "equivalent_identifiers": ["MONDO:0011471", "DOID:0110891", "OMIM:604519", "UMLS:C1858303", "MESH:C565764", "medgen:346785"], "information_content": 100.0}
{"id": "MONDO:0010196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Werner syndrome", "equivalent_identifiers": ["MONDO:0010196", "DOID:5688", "OMIM:277700", "orphanet:902", "UMLS:C0043119", "MESH:D014898", "MEDDRA:10049429", "NCIT:C3447", "SNOMEDCT:51626007", "medgen:12147", "icd11.foundation:1864550134"], "information_content": 90.9}
{"id": "HP:0025441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achilles tendon calcification", "equivalent_identifiers": ["HP:0025441", "UMLS:C4476778"], "information_content": 95.4}
{"id": "HP:0005177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature arteriosclerosis", "equivalent_identifiers": ["HP:0005177", "UMLS:C1848486", "UMLS:C4280503"], "information_content": 100.0}
{"id": "HP:0033047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Body ache", "equivalent_identifiers": ["HP:0033047", "UMLS:C0741585"], "information_content": 100.0}
{"id": "MONDO:0014173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 11, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014173", "DOID:0070287", "OMIM:615414", "UMLS:C3809431", "medgen:815761"], "information_content": 100.0}
{"id": "MONDO:0012012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease dominant intermediate C", "equivalent_identifiers": ["MONDO:0012012", "DOID:0110199", "OMIM:608323", "orphanet:100045", "UMLS:C1842237", "MESH:C564257", "SNOMEDCT:765746008", "medgen:334023"], "information_content": 100.0}
{"id": "MONDO:0033047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome 6", "equivalent_identifiers": ["MONDO:0033047", "DOID:0080256", "OMIM:617565", "UMLS:C4479656", "medgen:1391447"], "information_content": 100.0}
{"id": "MONDO:0859196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usmani-Riazuddin syndrome, autosomal recessive", "equivalent_identifiers": ["MONDO:0859196", "OMIM:619548", "UMLS:C5561994", "medgen:1794204"], "information_content": 100.0}
{"id": "MONDO:0009333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mullerian derivatives-lymphangiectasia-polydactyly syndrome", "equivalent_identifiers": ["MONDO:0009333", "OMIM:235255", "orphanet:1655", "UMLS:C1856159", "MESH:C536478", "medgen:343489"], "information_content": 100.0}
{"id": "HP:0006273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic lymphangiectasis", "equivalent_identifiers": ["HP:0006273", "UMLS:C1856162"], "information_content": 100.0}
{"id": "MONDO:0013376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with coloboma 6", "equivalent_identifiers": ["MONDO:0013376", "OMIM:613703", "UMLS:C3150968", "medgen:462318"], "information_content": 100.0}
{"id": "HP:0009911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal temporal bone morphology", "equivalent_identifiers": ["HP:0009911", "UMLS:C4024163"], "information_content": 62.4}
{"id": "MONDO:0009213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group C", "equivalent_identifiers": ["MONDO:0009213", "DOID:0111087", "OMIM:227645", "UMLS:C3468041", "NCIT:C125704", "SNOMEDCT:1285021005", "medgen:483324"], "information_content": 92.8}
{"id": "MONDO:0013561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia with joint dislocations, gPAPP type", "equivalent_identifiers": ["MONDO:0013561", "DOID:0112224", "OMIM:614078", "orphanet:280586", "UMLS:C3279757", "SNOMEDCT:782882009", "medgen:481387"], "information_content": 100.0}
{"id": "HP:0009190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular epiphyses of the metacarpals", "equivalent_identifiers": ["HP:0009190", "UMLS:C4024546"], "information_content": 95.4}
{"id": "MONDO:0013385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher Collins syndrome 2", "equivalent_identifiers": ["MONDO:0013385", "DOID:0080790", "OMIM:613717", "UMLS:C3150983", "medgen:462333"], "information_content": 100.0}
{"id": "MONDO:0033091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis, congenital, autosomal recessive 14", "equivalent_identifiers": ["MONDO:0033091", "DOID:0080258", "OMIM:617571", "UMLS:C4539754", "medgen:1620129"], "information_content": 100.0}
{"id": "MONDO:0008430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal dysplasia with delayed epiphyseal and carpal bone ossification", "equivalent_identifiers": ["MONDO:0008430", "OMIM:182255", "UMLS:C1866939", "MESH:C566687", "medgen:356650"], "information_content": 100.0}
{"id": "MONDO:0012176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emanuel syndrome", "equivalent_identifiers": ["MONDO:0012176", "OMIM:609029", "orphanet:96170", "UMLS:C1836929", "MESH:C535733", "MEDDRA:10079203", "SNOMEDCT:702417004", "medgen:323030"], "information_content": 100.0}
{"id": "MONDO:0014971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta, hypomaturation type, IIa6", "equivalent_identifiers": ["MONDO:0014971", "DOID:0080960", "OMIM:617217", "UMLS:C4310665", "medgen:934632"], "information_content": 100.0}
{"id": "MONDO:0029131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "equivalent_identifiers": ["MONDO:0029131", "OMIM:618124", "UMLS:C4748283", "medgen:1648480"], "information_content": 100.0}
{"id": "MONDO:0011757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A1B", "equivalent_identifiers": ["MONDO:0011757", "DOID:0110974", "OMIM:607004", "UMLS:C1846949", "MESH:C564635", "medgen:339652"], "information_content": 100.0}
{"id": "HP:0008111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad distal hallux", "equivalent_identifiers": ["HP:0008111", "UMLS:C1863403"], "information_content": 100.0}
{"id": "MONDO:0007188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary basilar invagination", "equivalent_identifiers": ["MONDO:0007188", "OMIM:109500", "orphanet:2285", "UMLS:C1862299", "MESH:C566226", "medgen:400018"], "information_content": 100.0}
{"id": "MONDO:0013112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiectasis with or without elevated sweat chloride 3", "equivalent_identifiers": ["MONDO:0013112", "DOID:0080528", "OMIM:613071", "UMLS:C2751324", "MESH:C567772", "medgen:414351"], "information_content": 100.0}
{"id": "MONDO:0014167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 5", "equivalent_identifiers": ["MONDO:0014167", "DOID:0111691", "OMIM:615400", "UMLS:C3809374", "medgen:815704"], "information_content": 100.0}
{"id": "MONDO:0013015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 5", "equivalent_identifiers": ["MONDO:0013015", "DOID:0110222", "OMIM:612838", "UMLS:C2748541", "MESH:C567556", "medgen:411607"], "information_content": 100.0}
{"id": "MONDO:0008861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylcrotonyl-CoA carboxylase 1 deficiency", "equivalent_identifiers": ["MONDO:0008861", "DOID:0080579", "OMIM:210200", "UMLS:C0268600", "MESH:C535308", "medgen:78691"], "information_content": 100.0}
{"id": "HP:0006573", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute hepatic steatosis", "equivalent_identifiers": ["HP:0006573", "UMLS:C4025020", "MEDDRA:10000745"], "information_content": 100.0}
{"id": "HP:4000206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000206", "UMLS:C5872955"], "information_content": 100.0}
{"id": "MONDO:0030919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 53", "equivalent_identifiers": ["MONDO:0030919", "DOID:0080228", "OMIM:617798", "EFO:0009165", "UMLS:C4540481", "medgen:1623344"], "information_content": 100.0}
{"id": "MONDO:0014660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 15, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014660", "DOID:0070277", "OMIM:616486", "UMLS:C4225310", "medgen:895496"], "information_content": 100.0}
{"id": "MONDO:0008964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital secretory chloride diarrhea 1", "equivalent_identifiers": ["MONDO:0008964", "DOID:0060296", "OMIM:214700", "orphanet:53689", "UMLS:C0267662", "MESH:C536210", "SNOMEDCT:24412005", "medgen:78631"], "information_content": 100.0}
{"id": "HP:0032067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated serum bicarbonate concentration", "equivalent_identifiers": ["HP:0032067", "UMLS:C4732834"], "information_content": 100.0}
{"id": "MONDO:0008338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "equivalent_identifiers": ["MONDO:0008338", "DOID:0081321", "OMIM:178110", "orphanet:65743", "UMLS:C1867440", "MESH:C566739", "SNOMEDCT:771269000", "medgen:401232"], "information_content": 100.0}
{"id": "MONDO:0009809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicentric osteolysis, nodulosis, and arthropathy", "equivalent_identifiers": ["MONDO:0009809", "OMIM:259600", "NCIT:C123437"], "information_content": 100.0}
{"id": "HP:0008090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankylosis of feet small joints", "equivalent_identifiers": ["HP:0008090", "UMLS:C4024732"], "information_content": 100.0}
{"id": "HP:0008011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral opacification of the cornea", "equivalent_identifiers": ["HP:0008011", "UMLS:C0155100", "MEDDRA:10034612", "SNOMEDCT:55713007"], "information_content": 95.4}
{"id": "HP:0008133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal tapering of metatarsals", "equivalent_identifiers": ["HP:0008133", "UMLS:C4024729"], "information_content": 100.0}
{"id": "HP:0008078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin metatarsal cortices", "equivalent_identifiers": ["HP:0008078", "UMLS:C1850162"], "information_content": 100.0}
{"id": "HP:0006012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened metacarpal shaft", "equivalent_identifiers": ["HP:0006012", "UMLS:C1850159"], "information_content": 100.0}
{"id": "HP:0005441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic cranial sutures", "equivalent_identifiers": ["HP:0005441", "UMLS:C4025195"], "information_content": 100.0}
{"id": "MONDO:0011502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram syndrome 2", "equivalent_identifiers": ["MONDO:0011502", "DOID:0110630", "OMIM:604928", "UMLS:C1858028", "MESH:C565733", "medgen:347604"], "information_content": 100.0}
{"id": "MONDO:0007483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyschromatosis symmetrica hereditaria", "equivalent_identifiers": ["MONDO:0007483", "DOID:0060257", "OMIM:127400", "orphanet:41", "UMLS:C0406775", "MESH:C535729", "NCIT:C118435", "SNOMEDCT:239085000", "medgen:96071"], "information_content": 100.0}
{"id": "MONDO:0010679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duchenne muscular dystrophy", "equivalent_identifiers": ["MONDO:0010679", "DOID:11723", "OMIM:310200", "orphanet:98896", "UMLS:C0013264", "MESH:D020388", "MEDDRA:10013801", "NCIT:C75482", "SNOMEDCT:76670001", "medgen:3925", "icd11.foundation:1479561744"], "information_content": 100.0}
{"id": "MONDO:0957992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 59", "equivalent_identifiers": ["MONDO:0957992", "OMIM:620646", "UMLS:C5882730", "medgen:1845781"], "information_content": 100.0}
{"id": "HP:0012734", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ketotic hypoglycemia", "equivalent_identifiers": ["HP:0012734", "NCIT:C131854", "UMLS:C0271713", "MEDDRA:10057214", "MEDDRA:10057216", "SNOMEDCT:20825002"], "information_content": 95.4}
{"id": "MONDO:0054785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 6", "equivalent_identifiers": ["MONDO:0054785", "DOID:0070332", "OMIM:617954", "orphanet:569290", "UMLS:C4693741", "SNOMEDCT:1279891002", "medgen:1643082"], "information_content": 100.0}
{"id": "MONDO:0009721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nathalie syndrome", "equivalent_identifiers": ["MONDO:0009721", "OMIM:255990", "orphanet:2663", "UMLS:C1850626", "MESH:C538342", "SNOMEDCT:716170005", "medgen:338087"], "information_content": 100.0}
{"id": "MONDO:0012142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 5", "equivalent_identifiers": ["MONDO:0012142", "DOID:0080399", "OMIM:608874", "UMLS:C1837210", "MESH:C563843", "medgen:373280"], "information_content": 100.0}
{"id": "MONDO:0007399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TWIST1-related craniosynostosis", "equivalent_identifiers": ["MONDO:0007399", "DOID:0061010", "OMIM:123100", "UMLS:C4551902", "SNOMEDCT:57219006", "medgen:1646646"], "information_content": 100.0}
{"id": "MONDO:0011548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral palsy, ataxic, autosomal recessive", "equivalent_identifiers": ["MONDO:0011548", "OMIM:605388"], "information_content": 100.0}
{"id": "MONDO:0032784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements", "equivalent_identifiers": ["MONDO:0032784", "OMIM:618497", "EFO:0010276", "UMLS:C5193128", "medgen:1678038"], "information_content": 100.0}
{"id": "MONDO:0007458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digitotalar dysmorphism; ulnar drift, hereditary", "equivalent_identifiers": ["MONDO:0007458", "OMIM:126050", "UMLS:C1852085", "medgen:342156"], "information_content": 100.0}
{"id": "MONDO:0031000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tessadori-Van Haaften neurodevelopmental syndrome 4", "equivalent_identifiers": ["MONDO:0031000", "OMIM:619951", "UMLS:C5677016", "medgen:1804234"], "information_content": 100.0}
{"id": "MONDO:0010511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vas deferens, congenital bilateral aplasia of, X-linked", "equivalent_identifiers": ["MONDO:0010511", "DOID:0111863", "OMIM:300985", "UMLS:C4310815", "medgen:934782"], "information_content": 100.0}
{"id": "MONDO:0030711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive", "equivalent_identifiers": ["MONDO:0030711", "DOID:0051001", "OMIM:619789", "UMLS:C5676940", "medgen:1800829"], "information_content": 100.0}
{"id": "MONDO:0011383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome type 2A", "equivalent_identifiers": ["MONDO:0011383", "DOID:0110115", "OMIM:603909", "UMLS:C1858968", "MESH:C565833", "NCIT:C39576", "medgen:349065"], "information_content": 92.8}
{"id": "MONDO:0008809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyneuropathy-hand defect syndrome", "equivalent_identifiers": ["MONDO:0008809", "OMIM:207740", "orphanet:2926", "UMLS:C1859752", "UMLS:C2930955", "MESH:C535624", "MESH:C565945", "SNOMEDCT:771261002", "medgen:349240"], "information_content": 100.0}
{"id": "MONDO:0007969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melkersson-Rosenthal syndrome", "equivalent_identifiers": ["MONDO:0007969", "DOID:1761", "OMIM:155900", "orphanet:2483", "EFO:1001039", "UMLS:C0025235", "MESH:D008556", "MEDDRA:10027166", "NCIT:C84886", "SNOMEDCT:215617000", "SNOMEDCT:37770007", "medgen:6291", "ICD10:G51.2"], "information_content": 100.0}
{"id": "MONDO:0009623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nijmegen breakage syndrome", "equivalent_identifiers": ["MONDO:0009623", "DOID:7400", "OMIM:251260", "orphanet:647", "UMLS:C0398791", "UMLS:C1855057", "MESH:C565380", "MESH:D049932", "MEDDRA:10067857", "NCIT:C4692", "SNOMEDCT:234638009", "medgen:140771", "icd11.foundation:1925662580"], "information_content": 90.9}
{"id": "HP:0005602", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive vitiligo", "equivalent_identifiers": ["HP:0005602", "UMLS:C3806428"], "information_content": 100.0}
{"id": "MONDO:0008523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blau syndrome", "equivalent_identifiers": ["MONDO:0008523", "DOID:0050678", "OMIM:186580", "orphanet:90340", "UMLS:C1836122", "UMLS:C1861303", "UMLS:C5201146", "MESH:C538157", "MEDDRA:10071755", "NCIT:C116794", "SNOMEDCT:699861000", "SNOMEDCT:726078000", "SNOMEDCT:818950005", "medgen:1684759", "icd11.foundation:382488319"], "information_content": 100.0}
{"id": "HP:0007813", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nongranulomatous uveitis", "equivalent_identifiers": ["HP:0007813", "UMLS:C4024795"], "information_content": 100.0}
{"id": "MONDO:0004857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tendinitis", "equivalent_identifiers": ["MONDO:0004857", "DOID:971", "UMLS:C0039503", "MEDDRA:10043232", "MEDDRA:10043255", "NCIT:C97141", "SNOMEDCT:34840004", "medgen:21094", "HP:0025230"], "information_content": 84.8}
{"id": "HP:0007432", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent generalized erythematous papular rash", "equivalent_identifiers": ["HP:0007432", "UMLS:C2749995"], "information_content": 100.0}
{"id": "MONDO:0700089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal nonkinesigenic dyskinesia 1", "equivalent_identifiers": ["MONDO:0700089", "DOID:0090049", "OMIM:118800", "UMLS:C4551506", "MESH:C537181", "medgen:1631383"], "information_content": 100.0}
{"id": "MONDO:0008684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolf-Hirschhorn syndrome", "equivalent_identifiers": ["MONDO:0008684", "DOID:0050460", "OMIM:194190", "orphanet:280", "UMLS:C0796117", "UMLS:C0796202", "UMLS:C1956097", "MESH:C536737", "MESH:D054877", "MEDDRA:10050361", "NCIT:C35528", "SNOMEDCT:17122004", "SNOMEDCT:718226002", "medgen:408255", "icd11.foundation:1337401724", "ICD10:Q93.3"], "information_content": 92.8}
{"id": "HP:0003312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal form of the vertebral bodies", "equivalent_identifiers": ["HP:0003312", "UMLS:C1839326"], "information_content": 68.1}
{"id": "HP:0011863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sternal ossification", "equivalent_identifiers": ["HP:0011863", "UMLS:C1860243"], "information_content": 87.2}
{"id": "MONDO:0010417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Najm type", "equivalent_identifiers": ["MONDO:0010417", "DOID:0060807", "OMIM:300749", "orphanet:163937", "UMLS:C2677903", "MESH:C567466", "medgen:437070"], "information_content": 100.0}
{"id": "MONDO:0010517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 36, X-linked", "equivalent_identifiers": ["MONDO:0010517", "DOID:0111850", "OMIM:300991", "UMLS:C4478372", "medgen:1393107"], "information_content": 100.0}
{"id": "DOID:0070271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lynch syndrome 1", "equivalent_identifiers": ["DOID:0070271", "OMIM:120435", "UMLS:C2936783", "NCIT:C6725"], "information_content": 92.8}
{"id": "MONDO:0054804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 21, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0054804", "DOID:0051032", "OMIM:617983", "UMLS:C4693831", "medgen:1646916"], "information_content": 100.0}
{"id": "MONDO:0014642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "candidiasis, familial, 9", "equivalent_identifiers": ["MONDO:0014642", "OMIM:616445", "UMLS:C4225324", "medgen:906897"], "information_content": 100.0}
{"id": "MONDO:0032768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 76", "equivalent_identifiers": ["MONDO:0032768", "DOID:0112212", "OMIM:618468", "UMLS:C5193113", "NCIT:C179296", "medgen:1673011"], "information_content": 100.0}
{"id": "MONDO:0010020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy type 2", "equivalent_identifiers": ["MONDO:0010020", "DOID:0111136", "OMIM:269700", "UMLS:C1720863", "medgen:318593"], "information_content": 100.0}
{"id": "MONDO:0011163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia, susceptibility to, 5", "equivalent_identifiers": ["MONDO:0011163", "OMIM:601887", "UMLS:C1866077", "MESH:C535698", "medgen:356151"], "information_content": 100.0}
{"id": "MONDO:0014585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 3C", "equivalent_identifiers": ["MONDO:0014585", "DOID:0110664", "OMIM:616323", "UMLS:C4225370", "medgen:903088"], "information_content": 100.0}
{"id": "MONDO:0971000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 93", "equivalent_identifiers": ["MONDO:0971000", "DOID:0070592", "OMIM:620849", "UMLS:C5935626", "medgen:1857096"], "information_content": 100.0}
{"id": "MONDO:0033561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deeah syndrome", "equivalent_identifiers": ["MONDO:0033561", "OMIM:619004", "orphanet:686495", "UMLS:C5436579", "medgen:1756624"], "information_content": 100.0}
{"id": "HP:0025481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical hemivertebrae", "equivalent_identifiers": ["HP:0025481", "UMLS:C0432155", "SNOMEDCT:92806000"], "information_content": 100.0}
{"id": "MONDO:0007161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 2", "equivalent_identifiers": ["MONDO:0007161", "DOID:0070164", "OMIM:108420", "UMLS:C1862459", "medgen:400056"], "information_content": 100.0}
{"id": "MONDO:0011213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pierpont syndrome", "equivalent_identifiers": ["MONDO:0011213", "DOID:0081362", "OMIM:602342", "orphanet:487825", "UMLS:C1865644", "MESH:C566559", "SNOMEDCT:1220594007", "medgen:356049"], "information_content": 100.0}
{"id": "HP:0032276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent subcalcaneal fat pad", "equivalent_identifiers": ["HP:0032276", "UMLS:C5139237"], "information_content": 100.0}
{"id": "MONDO:0013793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency", "equivalent_identifiers": ["MONDO:0013793", "OMIM:614520", "UMLS:C3281106", "medgen:482736"], "information_content": 100.0}
{"id": "MONDO:0014064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency nuclear type 3", "equivalent_identifiers": ["MONDO:0014064", "DOID:0080112", "OMIM:615158", "UMLS:C3554606", "medgen:767520"], "information_content": 100.0}
{"id": "MONDO:0014644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 74", "equivalent_identifiers": ["MONDO:0014644", "DOID:0110819", "OMIM:616451", "orphanet:468661", "UMLS:C5568837", "SNOMEDCT:1187191003", "medgen:1800260"], "information_content": 100.0}
{"id": "MONDO:0859230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kury-Isidor syndrome", "equivalent_identifiers": ["MONDO:0859230", "OMIM:619762", "UMLS:C5676925", "medgen:1807460"], "information_content": 100.0}
{"id": "MONDO:0013288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 3, autosomal recessive", "equivalent_identifiers": ["MONDO:0013288", "DOID:0081137", "OMIM:613501", "UMLS:C3150751", "medgen:462101"], "information_content": 100.0}
{"id": "MONDO:0014069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome", "equivalent_identifiers": ["MONDO:0014069", "OMIM:615170", "orphanet:357332", "UMLS:C3554611", "SNOMEDCT:783553008", "medgen:767525"], "information_content": 100.0}
{"id": "MONDO:0010493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis", "equivalent_identifiers": ["MONDO:0010493", "DOID:0111897", "OMIM:300946", "UMLS:C4225422", "medgen:895657"], "information_content": 100.0}
{"id": "MONDO:0014656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "equivalent_identifiers": ["MONDO:0014656", "DOID:0111515", "OMIM:616479", "UMLS:C4225312", "medgen:901897"], "information_content": 100.0}
{"id": "MONDO:0032760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with or without dysmorphic facies and autism", "equivalent_identifiers": ["MONDO:0032760", "OMIM:618454", "UMLS:C5193106", "medgen:1679263"], "information_content": 100.0}
{"id": "MONDO:0033311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 33", "equivalent_identifiers": ["MONDO:0033311", "DOID:0080279", "OMIM:617767", "UMLS:C4540389", "medgen:1615779"], "information_content": 100.0}
{"id": "MONDO:0012088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 5", "equivalent_identifiers": ["MONDO:0012088", "DOID:0110617", "OMIM:608647", "UMLS:C1837615", "MESH:C563886", "medgen:324840"], "information_content": 100.0}
{"id": "MONDO:0020763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Menke-Hennekam syndrome 1", "equivalent_identifiers": ["MONDO:0020763", "OMIM:618332", "EFO:0010252", "UMLS:C5193034", "medgen:1675629"], "information_content": 100.0}
{"id": "HP:0011238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent inferior crus of antihelix", "equivalent_identifiers": ["HP:0011238", "UMLS:C4021195"], "information_content": 100.0}
{"id": "MONDO:0000908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 13", "equivalent_identifiers": ["MONDO:0000908", "DOID:0110084", "OMIM:615616", "UMLS:C3810138", "NCIT:C176008", "medgen:816468"], "information_content": 100.0}
{"id": "MONDO:0013790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mirror movements 2", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0013790", "OMIM:614508", "UMLS:C3281089", "medgen:482719"], "information_content": 100.0}
{"id": "MONDO:0100462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "equivalent_identifiers": ["MONDO:0100462", "OMIM:165800", "orphanet:251262", "UMLS:C3665488", "MESH:C580095", "SNOMEDCT:715899006", "medgen:777109"], "information_content": 100.0}
{"id": "MONDO:0013203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, Fuchs endothelial, 3", "equivalent_identifiers": ["MONDO:0013203", "OMIM:613267", "UMLS:C2750451", "MESH:C567678", "medgen:442479"], "information_content": 100.0}
{"id": "MONDO:0007214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-preaxial hallux varus syndrome", "equivalent_identifiers": ["MONDO:0007214", "DOID:0110962", "OMIM:112450", "orphanet:1278", "UMLS:C1862162", "MESH:C537087", "medgen:349442", "ICD10:Q73.8"], "information_content": 100.0}
{"id": "MONDO:0009091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-acquired combined pituitary hormone deficiency with spine abnormalities", "equivalent_identifiers": ["MONDO:0009091", "DOID:0061021", "OMIM:221750", "orphanet:231720", "UMLS:C3489787", "MESH:C536710", "medgen:483740"], "information_content": 100.0}
{"id": "MONDO:0012651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 2", "equivalent_identifiers": ["MONDO:0012651", "DOID:0050941", "OMIM:611302", "orphanet:397946", "UMLS:C1969796", "MESH:C566969", "NCIT:C177252", "medgen:370750"], "information_content": 100.0}
{"id": "MONDO:0010494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "linear skin defects with multiple congenital anomalies 3", "equivalent_identifiers": ["MONDO:0010494", "DOID:0111876", "OMIM:300952", "UMLS:C4225421", "medgen:906997"], "information_content": 100.0}
{"id": "MONDO:0010771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytoid cardiomyopathy", "equivalent_identifiers": ["MONDO:0010771", "DOID:0080198", "OMIM:500000", "orphanet:137675", "UMLS:C1708371", "MESH:C535584", "NCIT:C45745", "medgen:310844", "icd11.foundation:1870618141", "HP:0005152"], "information_content": 95.4}
{"id": "MONDO:0009154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism, congenital, nongoitrous, 5", "equivalent_identifiers": ["MONDO:0009154", "DOID:0070125", "OMIM:225250", "UMLS:C2673630", "MESH:C567123", "medgen:388687"], "information_content": 100.0}
{"id": "MONDO:0019855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "athyreosis", "equivalent_identifiers": ["MONDO:0019855", "orphanet:95713", "UMLS:C0749420", "UMLS:C4020805", "MEDDRA:10090555", "NCIT:C27112", "SNOMEDCT:92978002", "medgen:155447", "HP:0008191"], "information_content": 95.4}
{"id": "MONDO:0019854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid ectopia", "equivalent_identifiers": ["MONDO:0019854", "orphanet:95712", "UMLS:C0266283", "UMLS:C0345447", "MEDDRA:10069503", "NCIT:C132051", "SNOMEDCT:214660000", "SNOMEDCT:268302006", "medgen:78591", "icd11.foundation:458251984", "HP:0100028"], "information_content": 90.9}
{"id": "MONDO:0034145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocerebrodental syndrome", "equivalent_identifiers": ["MONDO:0034145", "OMIM:618440", "orphanet:557003", "UMLS:C5193101", "SNOMEDCT:1255268002", "medgen:1674537"], "information_content": 100.0}
{"id": "MONDO:0030915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 61", "equivalent_identifiers": ["MONDO:0030915", "DOID:0080239", "OMIM:617773", "UMLS:C4540424", "medgen:1622296"], "information_content": 100.0}
{"id": "MONDO:0031030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection", "equivalent_identifiers": ["MONDO:0031030", "DOID:0061076", "OMIM:619986", "UMLS:C5774192", "medgen:1823965"], "information_content": 100.0}
{"id": "MONDO:0012091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 32", "equivalent_identifiers": ["MONDO:0012091", "DOID:0110491", "OMIM:608653", "UMLS:C1837608", "MESH:C563884", "medgen:373370"], "information_content": 100.0}
{"id": "MONDO:0011221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weyers ulnar ray/oligodactyly syndrome", "equivalent_identifiers": ["MONDO:0011221", "OMIM:602418", "UMLS:C1865566", "MESH:C536696", "medgen:356030"], "information_content": 100.0}
{"id": "HP:0005070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal radial head dislocation", "equivalent_identifiers": ["HP:0005070", "UMLS:C1865570"], "information_content": 100.0}
{"id": "MONDO:0013011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 5", "equivalent_identifiers": ["MONDO:0013011", "DOID:0110110", "OMIM:612794", "UMLS:C2748552", "MESH:C567561", "medgen:412580"], "information_content": 100.0}
{"id": "MONDO:0010379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brunner syndrome", "equivalent_identifiers": ["MONDO:0010379", "DOID:0060693", "OMIM:300615", "orphanet:3057", "UMLS:C0796275", "MESH:C563156", "MEDDRA:10081371", "SNOMEDCT:718210003", "medgen:208683", "ICD10:E70.8"], "information_content": 100.0}
{"id": "OMIM:620040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYSKERATOSIS CONGENITA, DIGENIC", "equivalent_identifiers": ["OMIM:620040", "UMLS:C5774217"]}
{"id": "MONDO:0958234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bethlem myopathy 1C", "equivalent_identifiers": ["MONDO:0958234", "OMIM:620726", "UMLS:C5935581", "medgen:1854240"], "information_content": 100.0}
{"id": "MONDO:0014573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cole-Carpenter syndrome 2", "equivalent_identifiers": ["MONDO:0014573", "OMIM:616294", "UMLS:C4225382", "medgen:905199"], "information_content": 100.0}
{"id": "MONDO:0014410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 37", "equivalent_identifiers": ["MONDO:0014410", "DOID:0050984", "OMIM:615945", "orphanet:363710", "UMLS:C3889636", "SNOMEDCT:719301002", "medgen:855217"], "information_content": 100.0}
{"id": "MONDO:0013773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porencephaly 2", "equivalent_identifiers": ["MONDO:0013773", "DOID:0112314", "OMIM:614483", "UMLS:C3280970", "medgen:482600"], "information_content": 100.0}
{"id": "OMIM:615789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ROTHMUND-THOMSON SYNDROME, TYPE 3", "equivalent_identifiers": ["OMIM:615789", "UMLS:C4014339"]}
{"id": "MONDO:0013783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with coloboma 7", "equivalent_identifiers": ["MONDO:0013783", "OMIM:614497", "UMLS:C3281027", "medgen:482657"], "information_content": 100.0}
{"id": "HP:0031613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inferior chorioretinal coloboma", "equivalent_identifiers": ["HP:0031613", "UMLS:C4703441"], "information_content": 100.0}
{"id": "MONDO:0958240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities", "equivalent_identifiers": ["MONDO:0958240", "OMIM:620732", "UMLS:C5935585", "medgen:1863149"], "information_content": 100.0}
{"id": "MONDO:0009503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase E3-binding protein deficiency", "equivalent_identifiers": ["MONDO:0009503", "OMIM:245349", "orphanet:255182", "UMLS:C1855553", "MESH:C565447", "medgen:343383"], "information_content": 100.0}
{"id": "MONDO:0014566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2U", "equivalent_identifiers": ["MONDO:0014566", "DOID:0110173", "OMIM:616280", "orphanet:397735", "UMLS:C4084821", "SNOMEDCT:765046002", "medgen:906504"], "information_content": 100.0}
{"id": "MONDO:0012563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 9", "equivalent_identifiers": ["MONDO:0012563", "DOID:0110873", "OMIM:610829", "UMLS:C1835819", "MESH:C563659", "medgen:324369"], "information_content": 100.0}
{"id": "MONDO:0060629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive", "equivalent_identifiers": ["MONDO:0060629", "OMIM:617820", "EFO:0009300", "UMLS:C4693325", "medgen:1646665"], "information_content": 100.0}
{"id": "MONDO:0008044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic dystonia 11", "equivalent_identifiers": ["MONDO:0008044", "DOID:0090034", "OMIM:159900", "UMLS:C1834570", "MEDDRA:10084572", "NCIT:C201596", "medgen:331778"], "information_content": 100.0}
{"id": "MONDO:0010882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aphalangy-syndactyly-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0010882", "OMIM:600384", "orphanet:1113", "UMLS:C1838161", "MESH:C563942", "medgen:324958"], "information_content": 100.0}
{"id": "HP:0001991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of toe", "equivalent_identifiers": ["HP:0001991", "UMLS:C3551148"], "information_content": 70.8}
{"id": "HP:0001449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of metatarsal bones", "equivalent_identifiers": ["HP:0001449", "UMLS:C4025778"], "information_content": 90.9}
{"id": "MONDO:0013005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EAST syndrome", "equivalent_identifiers": ["MONDO:0013005", "DOID:0060484", "OMIM:612780", "orphanet:199343", "UMLS:C2748572", "MESH:C557674", "SNOMEDCT:721207002", "medgen:411243"], "information_content": 100.0}
{"id": "NCBIGene:10167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin"], "name": "Cystic fibrosis, modifier of, 1", "equivalent_identifiers": ["NCBIGene:10167", "OMIM:603855"]}
{"id": "MONDO:0033492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 6", "equivalent_identifiers": ["MONDO:0033492", "DOID:0080297", "OMIM:617808", "UMLS:C4540499", "medgen:1615540"], "information_content": 100.0}
{"id": "MONDO:0030731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 12", "equivalent_identifiers": ["MONDO:0030731", "OMIM:619825", "UMLS:C5676959", "medgen:1802657"], "information_content": 100.0}
{"id": "MONDO:0008073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial juvenile hyperuricemic nephropathy type 1", "equivalent_identifiers": ["MONDO:0008073", "DOID:0061122", "OMIM:162000", "orphanet:88950", "EFO:0008618", "UMLS:C1835934", "UMLS:C4054550", "UMLS:C4551496", "MESH:C563693", "NCIT:C123172", "SNOMEDCT:445503007", "medgen:1645893"], "information_content": 100.0}
{"id": "HP:0012626", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stage 4 chronic kidney disease", "equivalent_identifiers": ["HP:0012626", "NCIT:C80390", "UMLS:C2317473", "MEDDRA:10076411", "SNOMEDCT:431857002"], "information_content": 100.0}
{"id": "MONDO:0014430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 45", "equivalent_identifiers": ["MONDO:0014430", "DOID:0081209", "OMIM:615979", "UMLS:C4014864", "medgen:863301"], "information_content": 100.0}
{"id": "MONDO:0032657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 69", "equivalent_identifiers": ["MONDO:0032657", "DOID:0112205", "OMIM:618285", "UMLS:C4748988", "medgen:1648381"], "information_content": 100.0}
{"id": "MONDO:0011965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 2", "equivalent_identifiers": ["MONDO:0011965", "DOID:0060755", "OMIM:608096", "UMLS:C1842564", "UMLS:C4759869", "MESH:C536956", "medgen:1683026"], "information_content": 100.0}
{"id": "MONDO:0007523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, hypermobility type", "equivalent_identifiers": ["MONDO:0007523", "DOID:14757", "OMIM:130020", "orphanet:285", "UMLS:C0268337", "MESH:C536196", "MEDDRA:10055058", "NCIT:C125698", "SNOMEDCT:30652003", "medgen:75670", "ICD10:Q79.62"], "information_content": 100.0}
{"id": "MONDO:0032660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant", "equivalent_identifiers": ["MONDO:0032660", "DOID:0070350", "OMIM:618291", "EFO:0010264", "UMLS:C4749003", "medgen:1648362"], "information_content": 100.0}
{"id": "MONDO:0033005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 1", "equivalent_identifiers": ["MONDO:0033005", "DOID:0060364", "OMIM:251300", "UMLS:C4551772", "medgen:1634188"], "information_content": 100.0}
{"id": "MONDO:0007382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ramos-Arroyo syndrome", "equivalent_identifiers": ["MONDO:0007382", "OMIM:122430", "orphanet:1051", "UMLS:C2930866", "MESH:C535286", "SNOMEDCT:723504000", "medgen:418932"], "information_content": 100.0}
{"id": "HP:0007980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent retinal pigment epithelium", "equivalent_identifiers": ["HP:0007980", "UMLS:C1852548"], "information_content": 100.0}
{"id": "MONDO:0013065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 7", "equivalent_identifiers": ["MONDO:0013065", "DOID:0080864", "OMIM:612964", "UMLS:C2751825", "UMLS:C4479664", "MESH:C567838", "medgen:414115"], "information_content": 100.0}
{"id": "MONDO:0030787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 71", "equivalent_identifiers": ["MONDO:0030787", "DOID:0070570", "OMIM:619831", "UMLS:C5676963", "medgen:1801153"], "information_content": 100.0}
{"id": "MONDO:0009714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myosclerosis", "equivalent_identifiers": ["MONDO:0009714", "OMIM:255600", "orphanet:289380", "UMLS:C1850671", "MESH:C564968", "MEDDRA:10064584", "SNOMEDCT:763895001", "medgen:338098", "icd11.foundation:2105106550"], "information_content": 100.0}
{"id": "MONDO:0031068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, IIa 2II", "equivalent_identifiers": ["MONDO:0031068", "OMIM:620068", "UMLS:C5774227", "medgen:1824000"], "information_content": 100.0}
{"id": "MONDO:0012417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart-hand syndrome, Slovenian type", "equivalent_identifiers": ["MONDO:0012417", "OMIM:610140", "orphanet:168796", "UMLS:C1857829", "MESH:C535852", "SNOMEDCT:721014007", "medgen:341859", "icd11.foundation:1814304618"], "information_content": 100.0}
{"id": "MONDO:0859301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects", "equivalent_identifiers": ["MONDO:0859301", "OMIM:620083", "orphanet:662207", "UMLS:C5774235", "medgen:1824008"], "information_content": 100.0}
{"id": "HP:0100760", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clubbing of toes", "equivalent_identifiers": ["HP:0100760", "UMLS:C3887489", "MEDDRA:10052071", "SNOMEDCT:53148007"], "information_content": 100.0}
{"id": "MONDO:0014679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis", "equivalent_identifiers": ["MONDO:0014679", "OMIM:616531", "UMLS:C4225295", "medgen:899982"], "information_content": 100.0}
{"id": "HP:0012454", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral wrist flexion contracture", "equivalent_identifiers": ["HP:0012454", "UMLS:C4020722", "UMLS:C4022898"], "information_content": 100.0}
{"id": "MONDO:0859204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0859204", "OMIM:619602", "UMLS:C5562015", "medgen:1794225"], "information_content": 100.0}
{"id": "HP:0007363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the pyramidal tract", "equivalent_identifiers": ["HP:0007363", "UMLS:C4024903"], "information_content": 92.8}
{"id": "MONDO:0013691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Feingold syndrome type 2", "equivalent_identifiers": ["MONDO:0013691", "OMIM:614326", "orphanet:391646", "UMLS:C3280489", "MEDDRA:10086636", "medgen:482119"], "information_content": 100.0}
{"id": "MONDO:0014437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 9", "equivalent_identifiers": ["MONDO:0014437", "DOID:0110131", "OMIM:615986", "EFO:0009027", "UMLS:C1859567", "MESH:C565918", "medgen:347182"], "information_content": 100.0}
{"id": "MONDO:0009917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism, type IB1, autosomal recessive", "equivalent_identifiers": ["MONDO:0009917", "OMIM:264350", "orphanet:171876", "UMLS:C1449843", "UMLS:C5774176", "medgen:1823950"], "information_content": 100.0}
{"id": "MONDO:0030898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 76", "equivalent_identifiers": ["MONDO:0030898", "OMIM:619164", "orphanet:647804", "UMLS:C5543004", "medgen:1781281"], "information_content": 100.0}
{"id": "MONDO:0030902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 36", "equivalent_identifiers": ["MONDO:0030902", "OMIM:619170", "UMLS:C5436935", "medgen:1773965"], "information_content": 100.0}
{"id": "MONDO:0014443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 15", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0014443", "DOID:0110137", "OMIM:615992", "UMLS:C3150127", "medgen:461477"], "information_content": 100.0}
{"id": "MONDO:0020507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with vanishing white matter 1", "equivalent_identifiers": ["MONDO:0020507", "DOID:0070374", "OMIM:603896", "orphanet:99854", "UMLS:C5779972", "medgen:1830482"], "information_content": 100.0}
{"id": "MONDO:0007424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 1", "equivalent_identifiers": ["MONDO:0007424", "DOID:0110541", "OMIM:124900", "UMLS:C1852282", "MESH:C565121", "medgen:343767"], "information_content": 100.0}
{"id": "MONDO:0007925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5q-syndrome", "equivalent_identifiers": ["MONDO:0007925", "DOID:0090016", "OMIM:153550", "orphanet:86841", "UMLS:C0740302", "UMLS:C1292779", "UMLS:C1835193", "MESH:C535323", "MEDDRA:10000031", "MEDDRA:10068532", "NCIT:C6867", "SNOMEDCT:128837000", "SNOMEDCT:277597005", "medgen:196625", "icd11.foundation:420472577", "ICD10:D46.7"], "information_content": 100.0}
{"id": "HP:0004861", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Refractory macrocytic anemia", "equivalent_identifiers": ["HP:0004861", "UMLS:C2675059"], "information_content": 100.0}
{"id": "MONDO:0011397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant cerebellar ataxia, deafness and narcolepsy", "equivalent_identifiers": ["MONDO:0011397", "DOID:0050968", "OMIM:604121", "orphanet:314404", "UMLS:C3807295", "medgen:813625"], "information_content": 100.0}
{"id": "MONDO:0012421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 44", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012421", "DOID:0110501", "OMIM:610154", "UMLS:C1857809", "MESH:C565716", "medgen:341854"], "information_content": 100.0}
{"id": "MONDO:0008318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proteus syndrome", "equivalent_identifiers": ["MONDO:0008318", "DOID:13482", "OMIM:176920", "orphanet:744", "UMLS:C0085261", "UMLS:C1867610", "MESH:C537716", "MESH:D016715", "MEDDRA:10074067", "NCIT:C85032", "SNOMEDCT:23150001", "medgen:39008", "icd11.foundation:760267333"], "information_content": 95.4}
{"id": "HP:0007483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Depigmentation/hyperpigmentation of skin", "equivalent_identifiers": ["HP:0007483", "UMLS:C4024864"], "information_content": 100.0}
{"id": "HP:0007403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypertrophy of skin of soles", "equivalent_identifiers": ["HP:0007403", "UMLS:C1867617"], "information_content": 100.0}
{"id": "HP:0004472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mandibular hyperostosis", "equivalent_identifiers": ["HP:0004472", "UMLS:C4025321", "UMLS:C4280521", "UMLS:C4280522", "UMLS:C4280523"], "information_content": 100.0}
{"id": "HP:6000009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebriform connective tissue nevus", "equivalent_identifiers": ["HP:6000009", "UMLS:C4011841"], "information_content": 100.0}
{"id": "MONDO:0859206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with hearing loss and spasticity", "equivalent_identifiers": ["MONDO:0859206", "OMIM:619616", "orphanet:659975", "UMLS:C5562024", "medgen:1794234"], "information_content": 100.0}
{"id": "MONDO:0001168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic hemiplegia", "equivalent_identifiers": ["MONDO:0001168", "DOID:10967", "UMLS:C0154694", "UMLS:C0270805", "MEDDRA:10019475", "MEDDRA:10021742", "MEDDRA:10041413", "MEDDRA:10058978", "NCIT:C116905", "SNOMEDCT:43486001", "SNOMEDCT:79633009", "medgen:56345", "icd11.foundation:1030700023", "ICD9:343.1", "HP:0011099"], "information_content": 95.4}
{"id": "MONDO:0033282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 5", "equivalent_identifiers": ["MONDO:0033282", "DOID:0080274", "OMIM:617613", "orphanet:569274", "UMLS:C4539919", "SNOMEDCT:1279890001", "medgen:1623132"], "information_content": 100.0}
{"id": "MONDO:0010986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 9", "equivalent_identifiers": ["MONDO:0010986", "DOID:0110535", "OMIM:601071", "UMLS:C1832828", "UMLS:C1832830", "MESH:C563396", "MESH:C563398", "medgen:331376"], "information_content": 100.0}
{"id": "MONDO:0007982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal chondrodysplasia, Jansen type", "equivalent_identifiers": ["MONDO:0007982", "DOID:0080020", "OMIM:156400", "orphanet:33067", "UMLS:C0265295", "MESH:C537564", "NCIT:C131868", "SNOMEDCT:24629003", "medgen:120529", "icd11.foundation:1652660420"], "information_content": 100.0}
{"id": "HP:0004676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prominent supraorbital arches in adult", "equivalent_identifiers": ["HP:0004676", "UMLS:C1834993"], "information_content": 100.0}
{"id": "MONDO:0007376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fleck corneal dystrophy", "equivalent_identifiers": ["MONDO:0007376", "DOID:0060448", "OMIM:121850", "orphanet:98970", "UMLS:C1562113", "MESH:C563256", "SNOMEDCT:417183007", "medgen:287065", "icd11.foundation:607143324"], "information_content": 100.0}
{"id": "HP:0007962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Speckled corneal dystrophy", "equivalent_identifiers": ["HP:0007962", "UMLS:C4021857"], "information_content": 100.0}
{"id": "MONDO:0971177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 123 with HPV-related verrucosis", "equivalent_identifiers": ["MONDO:0971177", "DOID:0061089", "OMIM:620901", "UMLS:C5935639", "medgen:1855052"], "information_content": 100.0}
{"id": "HP:0033510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous horn", "equivalent_identifiers": ["HP:0033510", "UMLS:C0085664", "MEDDRA:10011666", "SNOMEDCT:403871001", "SNOMEDCT:49417009"], "information_content": 100.0}
{"id": "MONDO:0032629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 25", "equivalent_identifiers": ["MONDO:0032629", "DOID:0112067", "OMIM:618246", "UMLS:C4748806", "medgen:1648366"], "information_content": 100.0}
{"id": "MONDO:0014955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RCBTB1-related retinopathy", "equivalent_identifiers": ["MONDO:0014955", "OMIM:617175", "UMLS:C4310680", "NCIT:C164155", "medgen:934647"], "information_content": 100.0}
{"id": "MONDO:0013220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 2B", "equivalent_identifiers": ["MONDO:0013220", "DOID:0111032", "OMIM:613313", "UMLS:C1865616", "MESH:C566557", "medgen:356040"], "information_content": 100.0}
{"id": "MONDO:0013215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 79", "equivalent_identifiers": ["MONDO:0013215", "DOID:0110526", "OMIM:613307", "UMLS:C2750082", "MESH:C567651", "medgen:413222"], "information_content": 100.0}
{"id": "MONDO:0013766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome 3", "equivalent_identifiers": ["MONDO:0013766", "DOID:0090064", "OMIM:614468", "orphanet:300359", "UMLS:C3280914", "UMLS:C4722480", "SNOMEDCT:773646003", "medgen:482544"], "information_content": 100.0}
{"id": "MONDO:0032635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 32", "equivalent_identifiers": ["MONDO:0032635", "DOID:0112080", "OMIM:618252", "UMLS:C4748839", "medgen:1648336"], "information_content": 100.0}
{"id": "MONDO:0019073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "equivalent_identifiers": ["MONDO:0019073", "DOID:0111360", "OMIM:137940", "UMLS:C1841989", "UMLS:C4317151", "MESH:C536825", "SNOMEDCT:723363009", "medgen:1373459"], "information_content": 100.0}
{"id": "HP:0007621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Telangiectasia of extensor surfaces", "equivalent_identifiers": ["HP:0007621", "UMLS:C4024827"], "information_content": 100.0}
{"id": "HP:0000095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal glomerulus morphology", "equivalent_identifiers": ["HP:0000095", "UMLS:C4025889"], "information_content": 65.4}
{"id": "MONDO:0012427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome 2", "equivalent_identifiers": ["MONDO:0012427", "DOID:0070234", "OMIM:610168", "UMLS:C2674574", "UMLS:C2931058", "MESH:C537783", "NCIT:C114768", "medgen:382398"], "information_content": 100.0}
{"id": "MONDO:0032803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 64", "equivalent_identifiers": ["MONDO:0032803", "DOID:0111980", "OMIM:618534", "UMLS:C5231402", "medgen:1684716"], "information_content": 100.0}
{"id": "MONDO:0021547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 3B", "equivalent_identifiers": ["MONDO:0021547", "DOID:0080243", "OMIM:617607", "UMLS:C4539891", "medgen:1621302"], "information_content": 100.0}
{"id": "OMIM:611276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glaucoma 1, Open Angle, H", "equivalent_identifiers": ["OMIM:611276", "UMLS:C1969811", "MESH:C566976"]}
{"id": "MONDO:0012273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 48", "equivalent_identifiers": ["MONDO:0012273", "DOID:0110505", "OMIM:609439", "UMLS:C1836199", "MESH:C563720", "medgen:332149"], "information_content": 100.0}
{"id": "MONDO:0014007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 6", "equivalent_identifiers": ["MONDO:0014007", "OMIM:615010", "UMLS:C3539013", "medgen:761287"], "information_content": 100.0}
{"id": "HP:0034513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating Interferon-alpha concentration", "equivalent_identifiers": ["HP:0034513", "UMLS:C5826443"], "information_content": 100.0}
{"id": "MONDO:0009229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyaline fibromatosis syndrome", "equivalent_identifiers": ["MONDO:0009229", "DOID:0111669", "OMIM:228600", "orphanet:498474", "UMLS:C5574677", "SNOMEDCT:1197494003", "medgen:1805033"], "information_content": 92.8}
{"id": "HP:0005876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive flexion contractures", "equivalent_identifiers": ["HP:0005876", "UMLS:C3279322"], "information_content": 100.0}
{"id": "MONDO:0007751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercholesterolemia, autosomal dominant, type B", "equivalent_identifiers": ["MONDO:0007751", "OMIM:144010", "UMLS:C1704417", "UMLS:C3888316", "MEDDRA:10017345", "MEDDRA:10045264", "MEDDRA:10054676", "MEDDRA:10060598", "NCIT:C176014", "SNOMEDCT:238081000", "medgen:309962"], "information_content": 100.0}
{"id": "MONDO:0009543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prominent glabella-microcephaly-hypogenitalism syndrome", "equivalent_identifiers": ["MONDO:0009543", "OMIM:247990", "orphanet:2083", "UMLS:C0796024", "MESH:C537714", "SNOMEDCT:716023007", "medgen:162900"], "information_content": 100.0}
{"id": "MONDO:0013927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 3A (Zellweger)", "equivalent_identifiers": ["MONDO:0013927", "DOID:0080478", "OMIM:614859", "UMLS:C3553929", "MESH:C566633", "NCIT:C155752", "medgen:766843"], "information_content": 100.0}
{"id": "HP:0040242", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle hemorrhage", "equivalent_identifiers": ["HP:0040242", "UMLS:C0151702", "MEDDRA:10019560", "MEDDRA:10028309", "MEDDRA:10028310", "MEDDRA:10055824", "MEDDRA:10071842", "SNOMEDCT:95422003"], "information_content": 100.0}
{"id": "MONDO:0007540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia type 1", "equivalent_identifiers": ["MONDO:0007540", "DOID:10017", "OMIM:131100", "UMLS:C0025267", "UMLS:C3149237", "MESH:D018761", "MEDDRA:10026979", "MEDDRA:10027180", "MEDDRA:10028190", "MEDDRA:10028194", "MEDDRA:10073150", "NCIT:C3225", "SNOMEDCT:30664006", "ICD10:E31.21", "ICD9:258.01"], "information_content": 88.2}
{"id": "MONDO:0019959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucagonoma", "equivalent_identifiers": ["MONDO:0019959", "orphanet:97280", "EFO:1000441", "UMLS:C0017689", "MESH:D005935", "MEDDRA:10018404", "NCIT:C3062", "NCIT:C95597", "SNOMEDCT:128855009", "SNOMEDCT:16424000", "SNOMEDCT:302823005", "medgen:4908", "icd11.foundation:1918063179", "HP:0030404"], "information_content": 90.9}
{"id": "HP:0008261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic islet cell adenoma", "equivalent_identifiers": ["HP:0008261", "UMLS:C1851697"], "information_content": 92.8}
{"id": "HP:0007449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Confetti-like hypopigmented macules", "equivalent_identifiers": ["HP:0007449", "UMLS:C1851705"], "information_content": 100.0}
{"id": "MONDO:0060457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation with arthritis and dyskeratosis", "equivalent_identifiers": ["MONDO:0060457", "OMIM:617388", "UMLS:C4479278", "medgen:1380109"], "information_content": 100.0}
{"id": "MONDO:0012347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hamartoma, Precalcaneal congenital fibrolipomatous", "equivalent_identifiers": ["MONDO:0012347", "OMIM:609808", "UMLS:C1853298", "MESH:C565226", "medgen:342846"], "information_content": 100.0}
{"id": "MONDO:0859377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with poor growth and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0859377", "DOID:0081444", "OMIM:620242", "UMLS:C5830273", "medgen:1840909"], "information_content": 100.0}
{"id": "HP:0033838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysphoria", "equivalent_identifiers": ["HP:0033838", "EFO:0009867", "UMLS:C0233477", "MEDDRA:10013954", "SNOMEDCT:30819006"], "information_content": 100.0}
{"id": "MONDO:0012483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 11", "equivalent_identifiers": ["MONDO:0012483", "DOID:0111018", "OMIM:610381", "UMLS:C1835865", "MESH:C563671", "medgen:322767"], "information_content": 100.0}
{"id": "MONDO:0030116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silver-russell syndrome 2", "equivalent_identifiers": ["MONDO:0030116", "OMIM:618905", "UMLS:C5394446", "UMLS:C5400127", "SNOMEDCT:1003395004", "medgen:1714148"], "information_content": 100.0}
{"id": "MONDO:0010544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 40", "equivalent_identifiers": ["MONDO:0010544", "DOID:0110272", "OMIM:302200", "UMLS:C2930878", "UMLS:C4049004", "UMLS:C4049005", "MESH:C535338", "medgen:886621"], "information_content": 100.0}
{"id": "MONDO:0013461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inosine triphosphatase deficiency", "equivalent_identifiers": ["MONDO:0013461", "OMIM:613850", "UMLS:C0342800", "MESH:C564127", "NCIT:C129974", "SNOMEDCT:238011005", "medgen:452450"], "information_content": 100.0}
{"id": "HP:6000510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated erythrocyte inosine triphosphate concentration", "equivalent_identifiers": ["HP:6000510", "UMLS:C5937273"], "information_content": 100.0}
{"id": "HP:6000511", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced erythrocyte inosine triphosphatase activity", "equivalent_identifiers": ["HP:6000511", "UMLS:C5937274"], "information_content": 100.0}
{"id": "MONDO:0013367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 2", "equivalent_identifiers": ["MONDO:0013367", "DOID:0110645", "OMIM:613688", "UMLS:C3150943", "UMLS:C3279092", "MESH:C563614", "NCIT:C137957", "medgen:462293"], "information_content": 100.0}
{"id": "HP:0034303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Notched T wave", "equivalent_identifiers": ["HP:0034303", "NCIT:C71032", "UMLS:C2347367"], "information_content": 100.0}
{"id": "MONDO:0007610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingival fibromatosis-hypertrichosis syndrome", "equivalent_identifiers": ["MONDO:0007610", "OMIM:135400", "orphanet:2026", "UMLS:C1851120", "UMLS:C4274889", "MESH:C565016", "SNOMEDCT:716008002", "medgen:342675"], "information_content": 100.0}
{"id": "MONDO:0009636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)", "equivalent_identifiers": ["MONDO:0009636", "DOID:0080121", "OMIM:251880", "orphanet:279934", "UMLS:C5191055", "SNOMEDCT:783734000", "medgen:1682503"], "information_content": 100.0}
{"id": "MONDO:0008795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia-cerebellar ataxia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008795", "DOID:0111578", "OMIM:206700", "orphanet:1065", "UMLS:C0431401", "MESH:C536370", "MEDDRA:10083891", "SNOMEDCT:253176002", "medgen:96563"], "information_content": 100.0}
{"id": "MONDO:0012948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 6pter-p24 deletion syndrome", "equivalent_identifiers": ["MONDO:0012948", "DOID:0060422", "OMIM:612582", "orphanet:96125", "UMLS:C2675486", "UMLS:C4305276", "MESH:C567239", "SNOMEDCT:718688008", "medgen:393396"], "information_content": 100.0}
{"id": "MONDO:0011916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2K", "equivalent_identifiers": ["MONDO:0011916", "DOID:0110167", "OMIM:607831", "orphanet:101097", "UMLS:C1842983", "MESH:C535418", "SNOMEDCT:725047007", "medgen:375064"], "information_content": 100.0}
{"id": "MONDO:0024536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid deficiency 1", "equivalent_identifiers": ["MONDO:0024536", "DOID:0080621", "OMIM:202200", "UMLS:C4049650", "NCIT:C123727", "medgen:885551"], "information_content": 100.0}
{"id": "MONDO:0009593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, Sedaghatian type", "equivalent_identifiers": ["MONDO:0009593", "DOID:0112298", "OMIM:250220", "orphanet:93317", "UMLS:C1855229", "MESH:C535798", "medgen:340816", "icd11.foundation:975738106"], "information_content": 100.0}
{"id": "HP:0004688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular tarsal bones", "equivalent_identifiers": ["HP:0004688", "UMLS:C1855240"], "information_content": 100.0}
{"id": "HP:0007187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal lissencephaly", "equivalent_identifiers": ["HP:0007187", "UMLS:C1855230"], "information_content": 100.0}
{"id": "HP:0008798", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Widened greater sciatic notch", "equivalent_identifiers": ["HP:0008798", "UMLS:C4024620"], "information_content": 100.0}
{"id": "MONDO:0060758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits", "equivalent_identifiers": ["MONDO:0060758", "OMIM:618087", "UMLS:C4748120", "medgen:1648308"], "information_content": 100.0}
{"id": "MONDO:0014831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progeroid and marfanoid aspect-lipodystrophy syndrome", "equivalent_identifiers": ["MONDO:0014831", "OMIM:616914", "orphanet:300382", "UMLS:C4310796", "medgen:934763"], "information_content": 100.0}
{"id": "MONDO:0021035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AMR Syndrome", "equivalent_identifiers": ["MONDO:0021035", "DOID:0080628", "OMIM:203650", "UMLS:C1859878", "UMLS:C4551986", "MESH:C565965", "medgen:349263"], "information_content": 100.0}
{"id": "MONDO:0030067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher Collins syndrome 4", "equivalent_identifiers": ["MONDO:0030067", "DOID:0080792", "OMIM:618939", "UMLS:C5394546", "medgen:1712280"], "information_content": 100.0}
{"id": "MONDO:0976266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diarrhea 14, congenital", "equivalent_identifiers": ["MONDO:0976266", "OMIM:621160"], "information_content": 100.0}
{"id": "MONDO:0012353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrocytosis, familial, 3", "equivalent_identifiers": ["MONDO:0012353", "DOID:0080338", "OMIM:609820", "UMLS:C1853286", "MESH:C565221", "medgen:377868"], "information_content": 100.0}
{"id": "MONDO:0014823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "equivalent_identifiers": ["MONDO:0014823", "DOID:0060935", "OMIM:616900", "orphanet:488632", "UMLS:C5567480", "SNOMEDCT:1172628002", "medgen:1798903"], "information_content": 100.0}
{"id": "HP:0100288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: myokymic discharges", "equivalent_identifiers": ["HP:0100288", "UMLS:C4022166"], "information_content": 100.0}
{"id": "HP:0010884", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acromelia", "equivalent_identifiers": ["HP:0010884", "UMLS:C4023675"], "information_content": 83.6}
{"id": "MONDO:0013937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 6B", "equivalent_identifiers": ["MONDO:0013937", "DOID:0081435", "OMIM:614871", "UMLS:C3553948", "NCIT:C155759", "medgen:766862"], "information_content": 100.0}
{"id": "MONDO:0032526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 48", "equivalent_identifiers": ["MONDO:0032526", "DOID:0111746", "OMIM:618093", "orphanet:631103", "EFO:0010251", "UMLS:C4748158", "medgen:1648409"], "information_content": 100.0}
{"id": "DOID:0111252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vestibular schwannomatosis", "equivalent_identifiers": ["DOID:0111252", "OMIM:101000", "UMLS:C0027832", "MESH:D016518", "MEDDRA:10029271", "NCIT:C3274", "SNOMEDCT:92503002", "ICD10:Q85.02", "ICD9:237.72"], "information_content": 90.9}
{"id": "HP:0007935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile posterior subcapsular lenticular opacities", "equivalent_identifiers": ["HP:0007935", "UMLS:C1863408"], "information_content": 100.0}
{"id": "MONDO:0003557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic nerve sheath meningioma", "equivalent_identifiers": ["MONDO:0003557", "DOID:5632", "UMLS:C0346328", "MEDDRA:10089684", "NCIT:C4538", "SNOMEDCT:254978007", "medgen:138057", "HP:0500089"], "information_content": 100.0}
{"id": "HP:0009590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral vestibular schwannoma", "equivalent_identifiers": ["HP:0009590", "UMLS:C1863653"], "information_content": 100.0}
{"id": "MONDO:0054850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 6", "equivalent_identifiers": ["MONDO:0054850", "DOID:0080498", "OMIM:618078", "UMLS:C4748084", "medgen:1648307"], "information_content": 100.0}
{"id": "MONDO:0025713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioedema, hereditary, 7", "equivalent_identifiers": ["MONDO:0025713", "OMIM:619366", "UMLS:C5543526", "medgen:1784046"], "information_content": 100.0}
{"id": "HP:0012222", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arachnoid hemangiomatosis", "equivalent_identifiers": ["HP:0012222", "UMLS:C4022998"], "information_content": 100.0}
{"id": "MONDO:0021542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangioma of choroid", "equivalent_identifiers": ["MONDO:0021542", "UMLS:C0346390", "MEDDRA:10070957", "MEDDRA:10070960", "NCIT:C4562", "SNOMEDCT:255022003", "medgen:83424", "HP:0007872"], "information_content": 100.0}
{"id": "MONDO:0014476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia type 8", "equivalent_identifiers": ["MONDO:0014476", "DOID:0050996", "OMIM:616055", "orphanet:401953", "UMLS:C4015108", "SNOMEDCT:773495009", "medgen:863545"], "information_content": 100.0}
{"id": "MONDO:0012824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 4", "equivalent_identifiers": ["MONDO:0012824", "DOID:0060789", "OMIM:612233", "orphanet:280288", "UMLS:C2677109", "MESH:C567390", "SNOMEDCT:870284000", "medgen:383026"], "information_content": 100.0}
{"id": "MONDO:0007104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis-parkinsonism-dementia complex", "equivalent_identifiers": ["MONDO:0007104", "DOID:0111246", "OMIM:105500", "orphanet:90020", "UMLS:C0543859", "SNOMEDCT:838276009", "medgen:107775"], "information_content": 100.0}
{"id": "MONDO:0008416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotylosis", "equivalent_identifiers": ["MONDO:0008416", "OMIM:181600", "orphanet:384", "UMLS:C0406767", "MESH:C537526", "MEDDRA:10070504", "SNOMEDCT:239076000", "medgen:98360"], "information_content": 100.0}
{"id": "MONDO:0014754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary coenzyme Q10 deficiency 8", "equivalent_identifiers": ["MONDO:0014754", "DOID:0070245", "OMIM:616733", "UMLS:C4225226", "medgen:908648"], "information_content": 100.0}
{"id": "MONDO:0010832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 3", "equivalent_identifiers": ["MONDO:0010832", "DOID:0110125", "OMIM:600151", "UMLS:C1859564", "MESH:C537911", "medgen:347179"], "information_content": 100.0}
{"id": "MONDO:0859525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 87", "equivalent_identifiers": ["MONDO:0859525", "DOID:0070606", "OMIM:620281", "UMLS:C5830342", "medgen:1840978"], "information_content": 100.0}
{"id": "MONDO:0007362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 2", "equivalent_identifiers": ["MONDO:0007362", "DOID:0111005", "OMIM:120970", "UMLS:C0339530", "UMLS:C3489532", "NCIT:C162399", "SNOMEDCT:80328002", "medgen:483485"], "information_content": 100.0}
{"id": "MONDO:0958076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloschisis", "equivalent_identifiers": ["MONDO:0958076", "orphanet:645398", "UMLS:C0266507", "SNOMEDCT:360530005", "medgen:539965", "icd11.foundation:1547705800", "HP:0030708"], "information_content": 92.8}
{"id": "MONDO:0044315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis 7", "equivalent_identifiers": ["MONDO:0044315", "DOID:0060912", "OMIM:617439", "UMLS:C4479496", "medgen:1392447"], "information_content": 100.0}
{"id": "MONDO:0012475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone dystrophy with supernormal rod response", "equivalent_identifiers": ["MONDO:0012475", "DOID:0081022", "OMIM:610356", "orphanet:209932", "UMLS:C1835897", "MESH:C563678", "NCIT:C192089", "SNOMEDCT:719455002", "medgen:332081", "icd11.foundation:545671557"], "information_content": 100.0}
{"id": "MONDO:0013484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 36", "equivalent_identifiers": ["MONDO:0013484", "DOID:0110247", "OMIM:613887", "UMLS:C3151304", "medgen:462654"], "information_content": 100.0}
{"id": "MONDO:0009360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus, nonsyndromic, autosomal recessive 1", "equivalent_identifiers": ["MONDO:0009360", "OMIM:236600", "UMLS:C1531647", "UMLS:C3887608", "MEDDRA:10068352", "NCIT:C50803", "SNOMEDCT:413808003", "medgen:854455"], "information_content": 100.0}
{"id": "MONDO:0012930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dursun Syndrome", "equivalent_identifiers": ["MONDO:0012930", "DOID:0112136", "OMIM:612541", "orphanet:331176", "UMLS:C2751630", "MESH:C567260", "MEDDRA:10090065", "NCIT:C176611", "SNOMEDCT:783058007", "medgen:414066"], "information_content": 100.0}
{"id": "HP:0100525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urachus fistula", "equivalent_identifiers": ["HP:0100525", "UMLS:C0345344", "SNOMEDCT:398320008", "SNOMEDCT:50986000"], "information_content": 100.0}
{"id": "MONDO:0100180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes mellitus, ketosis-prone", "equivalent_identifiers": ["MONDO:0100180", "OMIM:612227", "UMLS:C3837958", "MEDDRA:10023392", "SNOMEDCT:890171006", "medgen:1381503"], "information_content": 100.0}
{"id": "HP:0006279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beta-cell dysfunction", "equivalent_identifiers": ["HP:0006279", "UMLS:C1969875"], "information_content": 100.0}
{"id": "MONDO:0014244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 7", "equivalent_identifiers": ["MONDO:0014244", "DOID:0070149", "OMIM:615548", "orphanet:391397", "UMLS:C3809882", "NCIT:C125388", "SNOMEDCT:783550006", "medgen:816212", "ICD10:G60.8"], "information_content": 100.0}
{"id": "MONDO:0009290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease II", "equivalent_identifiers": ["MONDO:0009290", "DOID:2752", "OMIM:232300", "orphanet:365", "UMLS:C0017921", "UMLS:C2931347", "MESH:C536839", "MESH:D006009", "MEDDRA:10036143", "MEDDRA:10045253", "MEDDRA:10053185", "NCIT:C84734", "SNOMEDCT:274864009", "medgen:5340", "ICD10:E74.02"], "information_content": 92.8}
{"id": "HP:6001008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine glucose tetrasaccharide level", "equivalent_identifiers": ["HP:6001008", "UMLS:C5970348"], "information_content": 100.0}
{"id": "HP:6000088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle alpha-1,4-glucosidase activity", "equivalent_identifiers": ["HP:6000088", "UMLS:C5936954"], "information_content": 100.0}
{"id": "HP:0033235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Difficulty descending stairs", "equivalent_identifiers": ["HP:0033235", "UMLS:C0560085", "SNOMEDCT:282201001"], "information_content": 100.0}
{"id": "DOID:3012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Li-Fraumeni syndrome", "equivalent_identifiers": ["DOID:3012", "OMIM:151623", "UMLS:C0085390", "UMLS:C2675080", "MESH:C567189", "MESH:D016864", "MEDDRA:10066795", "NCIT:C3476", "SNOMEDCT:428850001"], "information_content": 89.4}
{"id": "MONDO:0018078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "soft tissue sarcoma", "equivalent_identifiers": ["MONDO:0018078", "orphanet:3394", "EFO:1001968", "UMLS:C4551687", "UMLS:CN204398", "MEDDRA:10075333", "MEDDRA:10082652", "NCIT:C9306", "SNOMEDCT:424952003", "medgen:1642116", "HP:0030448"], "information_content": 56.7}
{"id": "MONDO:0021259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostate neoplasm", "equivalent_identifiers": ["MONDO:0021259", "DOID:13206", "UMLS:C0033578", "UMLS:C0748012", "MEDDRA:10029002", "MEDDRA:10029096", "MEDDRA:10036927", "MEDDRA:10036965", "MEDDRA:10077903", "NCIT:C3343", "SNOMEDCT:126906006", "medgen:18697", "ICD10:N40", "ICD9:600.1", "HP:0100787"], "information_content": 62.1}
{"id": "MONDO:0012205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant striatal neurodegeneration type 1", "equivalent_identifiers": ["MONDO:0012205", "OMIM:609161", "UMLS:C4310808", "UMLS:C4511004", "SNOMEDCT:725392005", "medgen:934775"], "information_content": 100.0}
{"id": "HP:0040140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Degeneration of the striatum", "equivalent_identifiers": ["HP:0040140", "UMLS:C4022417"], "information_content": 100.0}
{"id": "HP:0007039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symmetric T2-signal increase with T1-signal decrease in the putamen", "equivalent_identifiers": ["HP:0007039", "UMLS:C4024947"], "information_content": 100.0}
{"id": "MONDO:0014254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otofaciocervical syndrome 2", "equivalent_identifiers": ["MONDO:0014254", "OMIM:615560", "UMLS:C5442121", "medgen:1782278"], "information_content": 100.0}
{"id": "HP:0030668", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periorbital dermoid cyst", "equivalent_identifiers": ["HP:0030668", "UMLS:C4073119"], "information_content": 100.0}
{"id": "MONDO:0012001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibulofacial dysostosis with ptosis, autosomal dominant", "equivalent_identifiers": ["MONDO:0012001", "OMIM:608257", "UMLS:C1842349", "MESH:C564267", "medgen:331276"], "information_content": 100.0}
{"id": "MONDO:0014481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory skin and bowel disease, neonatal, 2", "equivalent_identifiers": ["MONDO:0014481", "OMIM:616069", "UMLS:C4015130", "medgen:863567"], "information_content": 100.0}
{"id": "MONDO:0012715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with or without aura, susceptibility to, 12", "equivalent_identifiers": ["MONDO:0012715", "OMIM:611706", "UMLS:C2673676", "medgen:388698"], "information_content": 100.0}
{"id": "MONDO:0100303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis, annular epidermolytic 1", "equivalent_identifiers": ["MONDO:0100303", "OMIM:607602"], "information_content": 100.0}
{"id": "MONDO:0013359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hyperaldosteronism type III", "equivalent_identifiers": ["MONDO:0013359", "OMIM:613677", "orphanet:251274", "UMLS:C3838758", "NCIT:C127163", "SNOMEDCT:703234002", "medgen:824604"], "information_content": 100.0}
{"id": "MONDO:0014081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to CARD11 deficiency", "equivalent_identifiers": ["MONDO:0014081", "DOID:0111957", "OMIM:615206", "orphanet:357237", "UMLS:C3554686", "medgen:767600"], "information_content": 100.0}
{"id": "MONDO:0100111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis and neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0100111", "OMIM:619428", "UMLS:C5561938", "medgen:1794148"], "information_content": 100.0}
{"id": "HP:0033719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with parietal epileptiform discharges", "equivalent_identifiers": ["HP:0033719", "UMLS:C5539778"], "information_content": 89.4}
{"id": "MONDO:0054565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 17 with or without polydactyly", "equivalent_identifiers": ["MONDO:0054565", "OMIM:617405", "UMLS:C4479416", "medgen:1372794"], "information_content": 100.0}
{"id": "MONDO:0032892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "structural brain anomalies with impaired intellectual development and craniosynostosis", "equivalent_identifiers": ["MONDO:0032892", "OMIM:618736", "UMLS:C5231485", "medgen:1684861"], "information_content": 100.0}
{"id": "MONDO:0011871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Niemann-Pick disease type B", "equivalent_identifiers": ["MONDO:0011871", "DOID:0070112", "OMIM:607616", "orphanet:77293", "UMLS:C0268243", "UMLS:C1843418", "UMLS:C2675644", "MESH:C564366", "MESH:C567267", "MESH:D052537", "NCIT:C126866", "SNOMEDCT:39390005", "medgen:78651", "icd11.foundation:327269975"], "information_content": 100.0}
{"id": "HP:0034300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased acid sphingomyelinase activity", "equivalent_identifiers": ["HP:0034300", "UMLS:C1843422"], "information_content": 100.0}
{"id": "MONDO:0054837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 57", "equivalent_identifiers": ["MONDO:0054837", "DOID:0061031", "OMIM:618050", "UMLS:C4748003", "medgen:1648280"], "information_content": 100.0}
{"id": "MONDO:0014258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "equivalent_identifiers": ["MONDO:0014258", "OMIM:615574", "orphanet:391376", "UMLS:C3809971", "NCIT:C168586", "SNOMEDCT:782757004", "medgen:816301"], "information_content": 100.0}
{"id": "HP:0500157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoasparaginemia", "equivalent_identifiers": ["HP:0500157", "UMLS:C4732910"], "information_content": 100.0}
{"id": "MONDO:0013137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroidal dystrophy, central areolar 2", "equivalent_identifiers": ["MONDO:0013137", "OMIM:613105", "UMLS:C2751290", "MESH:C567750", "medgen:442696"], "information_content": 100.0}
{"id": "HP:0100698", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subcutaneous neurofibroma", "equivalent_identifiers": ["HP:0100698", "UMLS:C1827970", "SNOMEDCT:425327002"], "information_content": 100.0}
{"id": "HP:0008345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the iris dilator muscle", "equivalent_identifiers": ["HP:0008345", "UMLS:C4024696"], "information_content": 100.0}
{"id": "MONDO:0013139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 2, autosomal dominant", "equivalent_identifiers": ["MONDO:0013139", "DOID:0112131", "OMIM:613107", "UMLS:C2751288", "MESH:C567748", "NCIT:C176610", "medgen:413975"], "information_content": 100.0}
{"id": "MONDO:0009852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary intrinsic factor deficiency", "equivalent_identifiers": ["MONDO:0009852", "DOID:0050734", "OMIM:261000", "orphanet:332", "UMLS:C0271969", "UMLS:C1394891", "MESH:C563242", "MEDDRA:10070438", "MEDDRA:10070440", "SNOMEDCT:234361004", "SNOMEDCT:60504009", "medgen:235598"], "information_content": 95.4}
{"id": "HP:0200143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megaloblastic erythroid hyperplasia", "equivalent_identifiers": ["HP:0200143", "NCIT:C35825", "UMLS:C1334688", "UMLS:C1850020"], "information_content": 100.0}
{"id": "MONDO:0010787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kearns-Sayre syndrome", "equivalent_identifiers": ["MONDO:0010787", "DOID:12934", "OMIM:530000", "orphanet:480", "UMLS:C0022541", "MESH:D007625", "MEDDRA:10048804", "NCIT:C84798", "SNOMEDCT:25792000", "SNOMEDCT:77835008", "medgen:9618", "icd11.foundation:399100745", "ICD10:H49.81"], "information_content": 100.0}
{"id": "MONDO:0054838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial hypertrophic 27", "equivalent_identifiers": ["MONDO:0054838", "DOID:0061102", "OMIM:618052", "UMLS:C4748014", "NCIT:C179054", "medgen:1648325"], "information_content": 100.0}
{"id": "MONDO:0032891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysm, intracranial berry, 12", "equivalent_identifiers": ["MONDO:0032891", "DOID:0080975", "OMIM:618734", "UMLS:C5231484", "medgen:1684660"], "information_content": 100.0}
{"id": "HP:0031056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusiform cerebral aneurysm", "equivalent_identifiers": ["HP:0031056", "UMLS:C4476937"], "information_content": 100.0}
{"id": "MONDO:0014744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CALFAN Syndrome", "equivalent_identifiers": ["MONDO:0014744", "DOID:0111155", "OMIM:616719", "orphanet:466794", "UMLS:C5569084", "NCIT:C159655", "SNOMEDCT:1187643003", "medgen:1800507"], "information_content": 100.0}
{"id": "MONDO:0011327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal intranuclear inclusion disease", "equivalent_identifiers": ["MONDO:0011327", "DOID:0081294", "OMIM:603472", "orphanet:2289", "UMLS:C1863843", "MESH:C537395", "MEDDRA:10084235", "NCIT:C122655", "SNOMEDCT:715437003", "medgen:355075", "icd11.foundation:693937860"], "information_content": 100.0}
{"id": "MONDO:0013349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG11-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013349", "DOID:0080567", "OMIM:613661", "orphanet:280071", "UMLS:C3150913", "SNOMEDCT:733085004", "medgen:462263"], "information_content": 100.0}
{"id": "MONDO:0859527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 88", "equivalent_identifiers": ["MONDO:0859527", "DOID:0070611", "OMIM:620283", "UMLS:C5830355", "medgen:1840991"], "information_content": 100.0}
{"id": "MONDO:0030317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial hypertrophic, 28", "equivalent_identifiers": ["MONDO:0030317", "OMIM:619402", "UMLS:C5543616", "medgen:1779612"], "information_content": 100.0}
{"id": "HP:4000004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myocardial late gadolinium enhancement", "equivalent_identifiers": ["HP:4000004", "UMLS:C5539856"], "information_content": 100.0}
{"id": "MONDO:0008842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia", "equivalent_identifiers": ["MONDO:0008842", "DOID:0050754", "OMIM:208920", "orphanet:1168", "UMLS:C1859598", "MESH:C538013", "NCIT:C173401", "SNOMEDCT:715366004", "medgen:395301"], "information_content": 100.0}
{"id": "MONDO:0009020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular corneal dystrophy", "equivalent_identifiers": ["MONDO:0009020", "DOID:2565", "OMIM:217800", "orphanet:98969", "UMLS:C0024439", "UMLS:C1636149", "UMLS:C1691013", "MESH:C537834", "MESH:C563270", "MEDDRA:10025406", "NCIT:C34793", "SNOMEDCT:418054005", "SNOMEDCT:418435001", "SNOMEDCT:60258001", "medgen:351514", "icd11.foundation:791344343", "ICD10:H18.55", "ICD9:371.55"], "information_content": 95.4}
{"id": "MONDO:0014098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CIDEC-related familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0014098", "DOID:0070203", "OMIM:615238", "orphanet:435651", "UMLS:C3808940", "SNOMEDCT:1197749008", "medgen:815270"], "information_content": 100.0}
{"id": "MONDO:0013834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "UV-sensitive syndrome 3", "equivalent_identifiers": ["MONDO:0013834", "OMIM:614640", "UMLS:C3553328", "NCIT:C173107", "medgen:766242"], "information_content": 100.0}
{"id": "MONDO:0009238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary folate malabsorption", "equivalent_identifiers": ["MONDO:0009238", "DOID:0111678", "OMIM:229050", "orphanet:90045", "UMLS:C0342705", "MESH:C562799", "NCIT:C156424", "SNOMEDCT:62578003", "medgen:83348", "icd11.foundation:773545237"], "information_content": 100.0}
{"id": "HP:6000258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired folate absorption", "equivalent_identifiers": ["HP:6000258", "UMLS:C5937076"], "information_content": 100.0}
{"id": "MONDO:0008137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome X", "equivalent_identifiers": ["MONDO:0008137", "DOID:0060380", "OMIM:165590", "UMLS:C1833796", "MESH:C563491", "SNOMEDCT:722075004", "medgen:322280"], "information_content": 100.0}
{"id": "MONDO:0013962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 53", "equivalent_identifiers": ["MONDO:0013962", "DOID:0110805", "OMIM:614898", "orphanet:319199", "UMLS:C3539494", "SNOMEDCT:723823004", "medgen:761340"], "information_content": 100.0}
{"id": "MONDO:0044301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 11, susceptibility to", "inheritance": "Typified by incomplete penetrance", "equivalent_identifiers": ["MONDO:0044301", "OMIM:617349", "UMLS:C4479235", "medgen:1377970"], "information_content": 100.0}
{"id": "MONDO:0007854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratolytic winter erythema", "equivalent_identifiers": ["MONDO:0007854", "OMIM:148370", "orphanet:50943", "UMLS:C0406756", "MESH:C536155", "SNOMEDCT:239064000", "medgen:98359", "icd11.foundation:1491245207"], "information_content": 100.0}
{"id": "MONDO:0009795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome IX", "equivalent_identifiers": ["MONDO:0009795", "DOID:0060382", "OMIM:258865", "orphanet:141007", "UMLS:C0796102", "MESH:C557818", "SNOMEDCT:718680001", "medgen:162908"], "information_content": 100.0}
{"id": "MONDO:0008543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetralogy of fallot and glaucoma", "equivalent_identifiers": ["MONDO:0008543", "OMIM:187501", "UMLS:C1861234", "MESH:C536501", "medgen:396086"], "information_content": 100.0}
{"id": "MONDO:0013840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "equivalent_identifiers": ["MONDO:0013840", "DOID:0070242", "OMIM:614654", "orphanet:319678", "UMLS:C3553374", "medgen:766288"], "information_content": 100.0}
{"id": "MONDO:0008728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "equivalent_identifiers": ["MONDO:0008728", "OMIM:201910", "orphanet:90794", "UMLS:C0268287", "UMLS:C0852654", "UMLS:C1859995", "UMLS:C2936858", "UMLS:C4273964", "MESH:C535979", "MESH:C565977", "MEDDRA:10000021", "NCIT:C101042", "NCIT:C129302", "NCIT:C131087", "SNOMEDCT:124221007", "SNOMEDCT:52604008", "SNOMEDCT:717261006", "medgen:424833"], "information_content": 92.8}
{"id": "HP:6000516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating 21-deoxycortisol concentration", "equivalent_identifiers": ["HP:6000516", "UMLS:C5937279"], "information_content": 100.0}
{"id": "MONDO:0012818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 9", "equivalent_identifiers": ["MONDO:0012818", "DOID:0111107", "OMIM:612225", "UMLS:C2677132", "MESH:C567393", "SNOMEDCT:609576002", "medgen:383033"], "information_content": 100.0}
{"id": "HP:0032368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acidemia", "equivalent_identifiers": ["HP:0032368", "UMLS:C0268030", "MEDDRA:10060694", "MEDDRA:10060699", "SNOMEDCT:70731005"], "information_content": 80.9}
{"id": "MONDO:0013482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 8", "equivalent_identifiers": ["MONDO:0013482", "DOID:0070122", "OMIM:613885", "UMLS:C3836857", "medgen:854220"], "information_content": 100.0}
{"id": "MONDO:0011437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 4, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0011437", "DOID:0070291", "OMIM:604321", "UMLS:C1858516", "MESH:C565792", "medgen:347655"], "information_content": 100.0}
{"id": "MONDO:0011875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, idiopathic generalized, susceptibility to, 11", "equivalent_identifiers": ["MONDO:0011875", "OMIM:607628", "UMLS:C2750893", "UMLS:C2750894", "UMLS:C2750895", "medgen:416407"], "information_content": 100.0}
{"id": "MONDO:0007553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase", "equivalent_identifiers": ["MONDO:0007553", "OMIM:131880", "UMLS:C1851570", "MESH:C565049", "medgen:342036"], "information_content": 100.0}
{"id": "MONDO:0008157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buschke-Ollendorff syndrome", "equivalent_identifiers": ["MONDO:0008157", "DOID:0111536", "OMIM:166700", "UMLS:C0265514", "UMLS:C3149399", "MESH:C537415", "MEDDRA:10056289", "MEDDRA:10056878", "SNOMEDCT:60399005", "medgen:120545", "icd11.foundation:1556522143"], "information_content": 100.0}
{"id": "HP:6000943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoral osteopoikilosis", "equivalent_identifiers": ["HP:6000943", "UMLS:C5970292"], "information_content": 100.0}
{"id": "HP:0100898", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Connective tissue nevi", "equivalent_identifiers": ["HP:0100898", "NCIT:C8371", "UMLS:C0334083", "UMLS:C1306775", "UMLS:C3495371", "SNOMEDCT:22858003", "SNOMEDCT:277812008", "SNOMEDCT:400091006", "MESH:C562737"], "information_content": 92.8}
{"id": "MONDO:0024537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brown-Vialetto-van Laere syndrome 1", "equivalent_identifiers": ["MONDO:0024537", "DOID:0080785", "OMIM:211530", "orphanet:572543", "UMLS:C0796274", "NCIT:C133724", "medgen:163239"], "information_content": 95.4}
{"id": "HP:0007097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cranial nerve motor loss", "equivalent_identifiers": ["HP:0007097", "UMLS:C4024940"], "information_content": 100.0}
{"id": "DOID:0111253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurofibromatosis 1", "equivalent_identifiers": ["DOID:0111253", "OMIM:162200", "UMLS:C0027831", "MESH:D009456", "MEDDRA:10029270", "MEDDRA:10047712", "NCIT:C3273", "SNOMEDCT:92824003", "ICD10:Q85.01", "ICD9:237.71"], "information_content": 77.6}
{"id": "HP:6001124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sphenoid wing dysplasia", "equivalent_identifiers": ["HP:6001124", "UMLS:C5233103"], "information_content": 100.0}
{"id": "HP:0010795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar glioma", "equivalent_identifiers": ["HP:0010795", "UMLS:C4023700"], "information_content": 100.0}
{"id": "HP:0009736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial pseudarthrosis", "equivalent_identifiers": ["HP:0009736", "UMLS:C4024216"], "information_content": 100.0}
{"id": "MONDO:0016691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spongioblastoma", "equivalent_identifiers": ["MONDO:0016691", "DOID:4851", "orphanet:251612", "UMLS:C0334583", "UMLS:C0334584", "NCIT:C4047", "SNOMEDCT:128854008", "SNOMEDCT:763865009", "medgen:87271", "HP:0033680"], "information_content": 82.1}
{"id": "MONDO:0013933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 5B", "equivalent_identifiers": ["MONDO:0013933", "DOID:0081434", "OMIM:614867", "UMLS:C3542026", "NCIT:C155757", "medgen:762202"], "information_content": 100.0}
{"id": "MONDO:0026767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 74, COVID-19-related, X-linked", "equivalent_identifiers": ["MONDO:0026767", "DOID:0112063", "OMIM:301051", "UMLS:C5435745", "medgen:1768360"], "information_content": 100.0}
{"id": "HP:0033141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe SARS-CoV-2 infection", "equivalent_identifiers": ["HP:0033141", "UMLS:C5421637"], "information_content": 100.0}
{"id": "MONDO:0054733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 29", "equivalent_identifiers": ["MONDO:0054733", "DOID:0111930", "OMIM:618091", "UMLS:C4748142", "medgen:1648499"], "information_content": 100.0}
{"id": "MONDO:0026765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIr", "equivalent_identifiers": ["MONDO:0026765", "DOID:0051048", "OMIM:301045", "UMLS:C5393313", "medgen:1717186"], "information_content": 100.0}
{"id": "MONDO:0013939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 7B", "equivalent_identifiers": ["MONDO:0013939", "DOID:0081436", "OMIM:614873", "UMLS:C3553951", "NCIT:C155761", "medgen:766865"], "information_content": 100.0}
{"id": "MONDO:0009613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria, cblA type", "equivalent_identifiers": ["MONDO:0009613", "DOID:0060742", "OMIM:251100", "orphanet:79310", "UMLS:C0342721", "UMLS:C0342722", "UMLS:C1855109", "MESH:C537360", "NCIT:C142171", "SNOMEDCT:73843004", "SNOMEDCT:82245003", "medgen:344422"], "information_content": 100.0}
{"id": "HP:0034661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine 3-hydroxypropionic acid level", "equivalent_identifiers": ["HP:0034661", "UMLS:C5826570"], "information_content": 100.0}
{"id": "HP:0034662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine 2-methylcitric acid level", "equivalent_identifiers": ["HP:0034662", "UMLS:C5826571"], "information_content": 100.0}
{"id": "MONDO:0008268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polydactyly-myopia syndrome", "equivalent_identifiers": ["MONDO:0008268", "OMIM:174310", "orphanet:2917", "UMLS:C0033046", "UMLS:C1868117", "MESH:C536331", "MEDDRA:10036618", "MEDDRA:10042838", "SNOMEDCT:733087007", "SNOMEDCT:82639001", "medgen:357424"], "information_content": 100.0}
{"id": "MONDO:0014825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 11p13 deletion syndrome, distal", "equivalent_identifiers": ["MONDO:0014825", "OMIM:616902", "UMLS:C4311047", "medgen:935014"], "information_content": 100.0}
{"id": "MONDO:0007688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myhre syndrome", "equivalent_identifiers": ["MONDO:0007688", "OMIM:139210", "orphanet:2588", "UMLS:C0796081", "MESH:C537620", "NCIT:C123815", "SNOMEDCT:699316006", "medgen:167103"], "information_content": 100.0}
{"id": "HP:0004621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged vertebral pedicles", "equivalent_identifiers": ["HP:0004621", "UMLS:C4025303"], "information_content": 100.0}
{"id": "MONDO:0007648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary diffuse gastric adenocarcinoma", "equivalent_identifiers": ["MONDO:0007648", "DOID:0080764", "OMIM:137215", "orphanet:26106", "UMLS:C1708349", "UMLS:C4721859", "UMLS:C5677027", "NCIT:C43295", "SNOMEDCT:716859000", "medgen:310839"], "information_content": 92.8}
{"id": "MONDO:0030118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silver-russell syndrome 4", "equivalent_identifiers": ["MONDO:0030118", "OMIM:618907", "UMLS:C5394450", "medgen:1712866"], "information_content": 100.0}
{"id": "MONDO:0859375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with hypotonia, myopathy, and brain abnormalities", "equivalent_identifiers": ["MONDO:0859375", "OMIM:620240", "UMLS:C5830270", "medgen:1840906"], "information_content": 100.0}
{"id": "MONDO:0010310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopathia striata with cranial sclerosis", "equivalent_identifiers": ["MONDO:0010310", "DOID:0060886", "OMIM:300373", "orphanet:2780", "UMLS:C0432268", "MESH:C536053", "SNOMEDCT:254129003", "medgen:96590"], "information_content": 100.0}
{"id": "MONDO:0014489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limb-girdle muscular dystrophy due to POMK deficiency", "equivalent_identifiers": ["MONDO:0014489", "DOID:0112381", "OMIM:616094", "orphanet:445110", "UMLS:C4015184", "SNOMEDCT:1234819007", "medgen:863621"], "information_content": 100.0}
{"id": "MONDO:0009053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALDH18A1-related de Barsy syndrome", "equivalent_identifiers": ["MONDO:0009053", "DOID:0070132", "OMIM:219150", "orphanet:35664", "UMLS:C5234852", "SNOMEDCT:1295485009", "SNOMEDCT:59252009", "medgen:1720006"], "information_content": 100.0}
{"id": "HP:0500139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoprolinemia", "equivalent_identifiers": ["HP:0500139", "UMLS:C4732894"], "information_content": 95.4}
{"id": "MONDO:0014264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis 10", "equivalent_identifiers": ["MONDO:0014264", "DOID:0060927", "OMIM:615589", "UMLS:C3888339", "medgen:854867"], "information_content": 100.0}
{"id": "HP:0003068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Madelung-like forearm deformities", "equivalent_identifiers": ["HP:0003068", "UMLS:C1851419"], "information_content": 100.0}
{"id": "HP:0003406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral nerve compression", "equivalent_identifiers": ["HP:0003406", "UMLS:C1851414", "MEDDRA:10071931"], "information_content": 100.0}
{"id": "HP:0003105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protuberances at ends of long bones", "equivalent_identifiers": ["HP:0003105", "UMLS:C1851418"], "information_content": 100.0}
{"id": "MONDO:0011468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary motor and sensory neuropathy, Okinawa type", "equivalent_identifiers": ["MONDO:0011468", "OMIM:604484", "orphanet:90117", "UMLS:C1858338", "MESH:C535717", "medgen:346886"], "information_content": 95.4}
{"id": "MONDO:0957807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgE syndrome 6, autosomal dominant, with recurrent infections", "equivalent_identifiers": ["MONDO:0957807", "OMIM:620532", "UMLS:C5848786", "medgen:1851769"], "information_content": 100.0}
{"id": "MONDO:0010308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "inheritance": "X-linked recessive inheritance", "equivalent_identifiers": ["MONDO:0010308", "OMIM:300367", "UMLS:C3550789", "NCIT:C136653", "medgen:763703"], "information_content": 95.4}
{"id": "MONDO:0014484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 12, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014484", "DOID:0070284", "OMIM:616080", "UMLS:C4015156", "medgen:863593"], "information_content": 100.0}
{"id": "MONDO:0030056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi renotubular syndrome 5", "equivalent_identifiers": ["MONDO:0030056", "DOID:0080761", "OMIM:618913", "UMLS:C5394473", "medgen:1711127"], "information_content": 100.0}
{"id": "MONDO:0012946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 3", "equivalent_identifiers": ["MONDO:0012946", "DOID:0070033", "OMIM:612580", "UMLS:C2675488", "MESH:C567241", "medgen:436447"], "information_content": 100.0}
{"id": "HP:0008275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal light-adapted electroretinogram", "equivalent_identifiers": ["HP:0008275", "UMLS:C4024712"], "information_content": 86.3}
{"id": "MONDO:0014335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "equivalent_identifiers": ["MONDO:0014335", "OMIM:615760", "orphanet:404437", "UMLS:C4014239", "medgen:862676"], "information_content": 100.0}
{"id": "MONDO:0012526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary angioedema type 3", "equivalent_identifiers": ["MONDO:0012526", "DOID:0080940", "OMIM:610618", "orphanet:100054", "UMLS:C1857728", "MESH:D056828", "MEDDRA:10080958", "SNOMEDCT:427167008", "medgen:346653"], "information_content": 100.0}
{"id": "HP:0012271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic upper airway obstruction", "equivalent_identifiers": ["HP:0012271", "UMLS:C4022978"], "information_content": 100.0}
{"id": "MONDO:0011822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease type 3", "equivalent_identifiers": ["MONDO:0011822", "DOID:0110144", "OMIM:607364", "orphanet:93605", "UMLS:C1846343", "UMLS:C1846344", "MESH:C537653", "MESH:C564578", "SNOMEDCT:700111000", "medgen:335399"], "information_content": 100.0}
{"id": "HP:0005579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired renal tubular reabsorption of chloride", "equivalent_identifiers": ["HP:0005579", "UMLS:C1846349"], "information_content": 100.0}
{"id": "MONDO:0001898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroid disease", "equivalent_identifiers": ["MONDO:0001898", "DOID:1417", "UMLS:C0008521", "UMLS:C1263862", "UMLS:C4025836", "MESH:D015862", "MEDDRA:10045776", "NCIT:C34468", "SNOMEDCT:128468007", "medgen:892839", "ICD10:H31.9", "ICD9:363.9", "HP:0000610"], "information_content": 74.5}
{"id": "MONDO:0032627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 23", "equivalent_identifiers": ["MONDO:0032627", "DOID:0112087", "OMIM:618244", "UMLS:C4748799", "medgen:1648408"], "information_content": 100.0}
{"id": "MONDO:0014559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome", "equivalent_identifiers": ["MONDO:0014559", "DOID:0081212", "OMIM:616269", "orphanet:457212", "UMLS:C4225395", "SNOMEDCT:1260130005", "medgen:895952"], "information_content": 100.0}
{"id": "MONDO:0971178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 8", "equivalent_identifiers": ["MONDO:0971178", "OMIM:620903", "UMLS:C5935640", "medgen:1854762"], "information_content": 100.0}
{"id": "MONDO:0010440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, X-linked 4", "equivalent_identifiers": ["MONDO:0010440", "OMIM:300830", "UMLS:C0795888", "UMLS:C4082794", "medgen:162886"], "information_content": 100.0}
{"id": "MONDO:0032795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder 59", "equivalent_identifiers": ["MONDO:0032795", "DOID:0061033", "OMIM:618522", "UMLS:C5193190", "medgen:1678593"], "information_content": 100.0}
{"id": "MONDO:0013277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 5", "equivalent_identifiers": ["MONDO:0013277", "DOID:0080438", "OMIM:613477", "UMLS:C3150731", "medgen:462081"], "information_content": 100.0}
{"id": "MONDO:0007204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cole-Carpenter syndrome 1", "equivalent_identifiers": ["MONDO:0007204", "OMIM:112240", "UMLS:C4317154", "medgen:1374755"], "information_content": 100.0}
{"id": "HP:0005472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orbital craniosynostosis", "equivalent_identifiers": ["HP:0005472", "UMLS:C4025192"], "information_content": 100.0}
{"id": "MONDO:0014003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 15", "equivalent_identifiers": ["MONDO:0014003", "DOID:0080414", "OMIM:615006", "UMLS:C3554316", "medgen:767230"], "information_content": 100.0}
{"id": "MONDO:0010984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1D", "equivalent_identifiers": ["MONDO:0010984", "DOID:0110831", "OMIM:601067", "UMLS:C1832845", "UMLS:C3152102", "MESH:C563400", "medgen:322051"], "information_content": 100.0}
{"id": "MONDO:0033258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 71", "equivalent_identifiers": ["MONDO:0033258", "DOID:0080267", "OMIM:617605", "UMLS:C4539881", "medgen:1621646"], "information_content": 100.0}
{"id": "MONDO:0032633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 29", "equivalent_identifiers": ["MONDO:0032633", "DOID:0112084", "OMIM:618250", "UMLS:C4748830", "medgen:1648451"], "information_content": 100.0}
{"id": "MONDO:0010671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, syndromic 1", "equivalent_identifiers": ["MONDO:0010671", "DOID:0111799", "OMIM:309800", "orphanet:85275", "UMLS:C0796016", "UMLS:C1844948", "MESH:C537464", "SNOMEDCT:438504004", "SNOMEDCT:717222003", "medgen:162898"], "information_content": 100.0}
{"id": "HP:0020006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ciliary body coloboma", "equivalent_identifiers": ["HP:0020006", "UMLS:C4072884"], "information_content": 100.0}
{"id": "MONDO:0011131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricho-oculo-dermo-vertebral syndrome", "equivalent_identifiers": ["MONDO:0011131", "OMIM:601701", "UMLS:C1866427", "MESH:C537441", "medgen:355714", "icd11.foundation:1206025469"], "information_content": 100.0}
{"id": "HP:0000682", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dental enamel morphology", "equivalent_identifiers": ["HP:0000682", "UMLS:C4021800", "UMLS:C4280262", "UMLS:C4280615"], "information_content": 83.1}
{"id": "MONDO:0007090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amastia, bilateral, with ureteral triplication and dysmorphism", "equivalent_identifiers": ["MONDO:0007090", "OMIM:104350", "UMLS:C1863015", "MESH:C566295", "medgen:354882"], "information_content": 100.0}
{"id": "HP:0008705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureteral triplication", "equivalent_identifiers": ["HP:0008705", "UMLS:C4024635"], "information_content": 100.0}
{"id": "MONDO:0010188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated deficiency of vitamin E", "equivalent_identifiers": ["MONDO:0010188", "DOID:0090028", "OMIM:277460", "orphanet:96", "UMLS:C1848533", "MESH:C535393", "MEDDRA:10088735", "NCIT:C155996", "SNOMEDCT:702442008", "medgen:341248"], "information_content": 100.0}
{"id": "HP:0033687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short term memory impairment", "equivalent_identifiers": ["HP:0033687", "UMLS:C0701811", "MEDDRA:10040602", "MEDDRA:10068446", "SNOMEDCT:247592009"], "information_content": 95.4}
{"id": "MONDO:0014342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female infertility due to zona pellucida defect", "equivalent_identifiers": ["MONDO:0014342", "OMIM:615774", "orphanet:404466", "UMLS:C4014291", "medgen:862728"], "information_content": 100.0}
{"id": "HP:6000328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent zona pellucida", "equivalent_identifiers": ["HP:6000328", "UMLS:C5937125"], "information_content": 100.0}
{"id": "MONDO:0011287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CDAGS SYNDROME", "equivalent_identifiers": ["MONDO:0011287", "OMIM:603116", "orphanet:85199", "UMLS:C1864186", "MESH:C536789", "SNOMEDCT:720812002", "medgen:351066"], "information_content": 100.0}
{"id": "MONDO:0007041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apert syndrome", "equivalent_identifiers": ["MONDO:0007041", "OMIM:101200", "orphanet:87", "UMLS:C0001193", "UMLS:C1863389", "UMLS:C1863391", "MESH:C566327", "MESH:D000168", "MEDDRA:10002943", "NCIT:C99099", "SNOMEDCT:205258009", "medgen:7858", "icd11.foundation:1962779847"], "information_content": 95.4}
{"id": "HP:0004487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrobrachycephaly", "equivalent_identifiers": ["HP:0004487", "UMLS:C1863395", "SNOMEDCT:711039004"], "information_content": 100.0}
{"id": "HP:6000934", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glenoid dysplasia", "equivalent_identifiers": ["HP:6000934", "UMLS:C3840151", "SNOMEDCT:2111000119106"], "information_content": 100.0}
{"id": "HP:0007343", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the limbic system", "equivalent_identifiers": ["HP:0007343", "UMLS:C1863392"], "information_content": 79.9}
{"id": "MONDO:0032651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosis, neurodegeneration, and cerebral angiomatosis", "equivalent_identifiers": ["MONDO:0032651", "OMIM:618278", "UMLS:C4748939", "SNOMEDCT:1348304006", "medgen:1648312"], "information_content": 100.0}
{"id": "MONDO:0008498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "strabismus, susceptibility to", "equivalent_identifiers": ["MONDO:0008498", "OMIM:185100", "UMLS:C1861449", "medgen:350026"], "information_content": 95.4}
{"id": "HP:0031724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microtropia", "equivalent_identifiers": ["HP:0031724", "UMLS:C0271356", "SNOMEDCT:28633004"], "information_content": 92.8}
{"id": "MONDO:0014551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature with nonspecific skeletal abnormalities 1", "equivalent_identifiers": ["MONDO:0014551", "OMIM:616255"], "information_content": 100.0}
{"id": "MONDO:0030935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 2 deficiency, nuclear type 2", "equivalent_identifiers": ["MONDO:0030935", "OMIM:619166", "UMLS:C5436933", "medgen:1742371"], "information_content": 100.0}
{"id": "MONDO:0014435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 7", "equivalent_identifiers": ["MONDO:0014435", "DOID:0110129", "OMIM:615984", "EFO:0009026", "UMLS:C1859565", "MESH:C565916", "medgen:347180"], "information_content": 100.0}
{"id": "MONDO:0013689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 3", "equivalent_identifiers": ["MONDO:0013689", "DOID:0080495", "OMIM:614324", "UMLS:C3280471", "medgen:482101"], "information_content": 100.0}
{"id": "MONDO:0008407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurogenic scapuloperoneal syndrome, Kaeser type", "equivalent_identifiers": ["MONDO:0008407", "DOID:0111551", "OMIM:181400", "orphanet:85146", "UMLS:C1867005", "MESH:C566695", "SNOMEDCT:1208615009", "medgen:356670"], "information_content": 100.0}
{"id": "MONDO:0011522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 14", "equivalent_identifiers": ["MONDO:0011522", "DOID:0110767", "OMIM:605229", "orphanet:100995", "UMLS:C1854568", "MESH:C537486", "SNOMEDCT:783094006", "medgen:343157"], "information_content": 100.0}
{"id": "MONDO:0007858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, punctate type 1A", "equivalent_identifiers": ["MONDO:0007858", "DOID:0080214", "OMIM:148600"], "information_content": 100.0}
{"id": "MONDO:0009918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fundus dystrophy, pseudoinflammatory, recessive form", "equivalent_identifiers": ["MONDO:0009918", "OMIM:264420", "UMLS:C1849694", "UMLS:C2931032", "MESH:C535828", "medgen:337888"], "information_content": 100.0}
{"id": "HP:0007822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central retinal exudate", "equivalent_identifiers": ["HP:0007822", "UMLS:C4024793"], "information_content": 100.0}
{"id": "MONDO:0010438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal nocturnal hemoglobinuria 1", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0010438", "OMIM:300818", "UMLS:C3806670", "medgen:813000"], "information_content": 100.0}
{"id": "MONDO:0030619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 92", "equivalent_identifiers": ["MONDO:0030619", "DOID:0061107", "OMIM:619614", "UMLS:C5562022", "medgen:1794232"], "information_content": 100.0}
{"id": "MONDO:0033199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 107", "equivalent_identifiers": ["MONDO:0033199", "DOID:0080262", "OMIM:617639", "UMLS:C4539964", "medgen:1622558"], "information_content": 100.0}
{"id": "MONDO:0012423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MORM syndrome", "equivalent_identifiers": ["MONDO:0012423", "OMIM:610156", "orphanet:75858", "UMLS:C1857802", "MESH:C536984", "SNOMEDCT:715628009", "medgen:341851", "icd11.foundation:1027545274"], "information_content": 100.0}
{"id": "MONDO:0013072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "equivalent_identifiers": ["MONDO:0013072", "DOID:0070250", "OMIM:612999", "UMLS:C2751805", "medgen:414111"], "information_content": 100.0}
{"id": "MONDO:0009356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive humeroradial synostosis", "equivalent_identifiers": ["MONDO:0009356", "OMIM:236400", "UMLS:C1856055", "UMLS:C5975703", "MESH:C565509", "medgen:343467"], "information_content": 100.0}
{"id": "MONDO:0009437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bamforth-Lazarus syndrome", "equivalent_identifiers": ["MONDO:0009437", "DOID:0050655", "OMIM:241850", "orphanet:1226", "UMLS:C1855794", "MESH:C537901", "MEDDRA:10090559", "SNOMEDCT:722375007", "medgen:343420", "icd11.foundation:1747690671"], "information_content": 100.0}
{"id": "HP:6000244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating thyroglobulin concentration", "equivalent_identifiers": ["HP:6000244", "UMLS:C5937067"], "information_content": 100.0}
{"id": "HP:0430050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-thyroid antibody positivity", "equivalent_identifiers": ["HP:0430050", "UMLS:C5936807"], "information_content": 90.9}
{"id": "OMIM:601800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3", "equivalent_identifiers": ["OMIM:601800", "OMIM:614456", "UMLS:C2677190", "UMLS:C3152204"]}
{"id": "MONDO:0024508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, hot water, 1", "equivalent_identifiers": ["MONDO:0024508", "DOID:0081106", "OMIM:613339", "UMLS:C4551550", "medgen:1636069"], "information_content": 100.0}
{"id": "MONDO:0014441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 13", "equivalent_identifiers": ["MONDO:0014441", "DOID:0110135", "OMIM:615990", "UMLS:C2673873", "MESH:C567140", "medgen:393032"], "information_content": 100.0}
{"id": "MONDO:0030903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 11", "equivalent_identifiers": ["MONDO:0030903", "OMIM:619172", "UMLS:C5436936", "medgen:1727728"], "information_content": 100.0}
{"id": "MONDO:0032659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucocutaneous ulceration, chronic", "equivalent_identifiers": ["MONDO:0032659", "OMIM:618287", "UMLS:C4748997", "medgen:1648375"], "information_content": 100.0}
{"id": "HP:0032565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal mucosal ulceration", "equivalent_identifiers": ["HP:0032565", "UMLS:C4748998"], "information_content": 100.0}
{"id": "MONDO:0958230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome 20", "equivalent_identifiers": ["MONDO:0958230", "DOID:0060962", "OMIM:620718", "UMLS:C5935578", "medgen:1854813"], "information_content": 100.0}
{"id": "MONDO:0009407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic neuropathy and cataract", "equivalent_identifiers": ["MONDO:0009407", "OMIM:239900", "UMLS:C1855885", "MESH:C565490", "medgen:344602"], "information_content": 100.0}
{"id": "MONDO:0008752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alexander disease", "equivalent_identifiers": ["MONDO:0008752", "DOID:4252", "OMIM:203450", "orphanet:58", "UMLS:C0270726", "MESH:D038261", "MEDDRA:10083059", "NCIT:C84545", "SNOMEDCT:81854007", "medgen:78724", "icd11.foundation:2023359698"], "information_content": 92.8}
{"id": "HP:0010530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palatal tremor", "equivalent_identifiers": ["HP:0010530", "UMLS:C0030214", "MEDDRA:10051575", "SNOMEDCT:9366002"], "information_content": 100.0}
{"id": "MONDO:0030785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly", "equivalent_identifiers": ["MONDO:0030785", "DOID:0081234", "OMIM:619827", "UMLS:C5676961", "medgen:1808159"], "information_content": 100.0}
{"id": "HP:0007164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slowed slurred speech", "equivalent_identifiers": ["HP:0007164", "UMLS:C4024929"], "information_content": 100.0}
{"id": "MONDO:0010136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 4", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0010136", "DOID:0112188", "OMIM:274800", "UMLS:C0342195", "MESH:C562770", "NCIT:C131435", "SNOMEDCT:17885001", "medgen:87429"], "information_content": 100.0}
{"id": "MONDO:0859236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with neuromuscular and skeletal abnormalities", "equivalent_identifiers": ["MONDO:0859236", "OMIM:619833", "UMLS:C5676965", "medgen:1803456"], "information_content": 100.0}
{"id": "MONDO:0009461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 5", "equivalent_identifiers": ["MONDO:0009461", "DOID:0070183", "OMIM:243060", "orphanet:137893", "UMLS:C0403812", "MESH:C562903", "SNOMEDCT:236806004", "medgen:98020"], "information_content": 100.0}
{"id": "MONDO:0014412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipoproteinemia, type 1D", "equivalent_identifiers": ["MONDO:0014412", "DOID:0111420", "OMIM:615947", "orphanet:535458", "UMLS:C4014767", "medgen:863204"], "information_content": 100.0}
{"id": "HP:0032458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrowing of medullary canal", "equivalent_identifiers": ["HP:0032458", "UMLS:C1851612"], "information_content": 100.0}
{"id": "HP:6001056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Out-toeing", "equivalent_identifiers": ["HP:6001056", "UMLS:C0231792", "MEDDRA:10066804", "SNOMEDCT:20566008"], "information_content": 100.0}
{"id": "MONDO:0014962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 57", "equivalent_identifiers": ["MONDO:0014962", "DOID:0081219", "OMIM:617188", "UMLS:C4310673", "medgen:934640"], "information_content": 100.0}
{"id": "MONDO:0008954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 2A (Zellweger)", "equivalent_identifiers": ["MONDO:0008954", "DOID:0080477", "OMIM:214110", "UMLS:C3550273", "NCIT:C155750", "medgen:763187"], "information_content": 100.0}
{"id": "HP:0002764", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stippled chondral calcification", "equivalent_identifiers": ["HP:0002764", "UMLS:C4025679"], "information_content": 100.0}
{"id": "MONDO:0012429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome 2", "equivalent_identifiers": ["MONDO:0012429", "OMIM:610181", "UMLS:C3489724", "NCIT:C165673", "medgen:483677"], "information_content": 100.0}
{"id": "MONDO:0044326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay and seizures with or without movement abnormalities", "equivalent_identifiers": ["MONDO:0044326", "DOID:0080473", "OMIM:617836", "UMLS:C4693376", "medgen:1641343"], "information_content": 100.0}
{"id": "MONDO:0010540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bullous dystrophy, macular type", "equivalent_identifiers": ["MONDO:0010540", "OMIM:302000", "orphanet:1867", "UMLS:C0795974", "MESH:C563065", "medgen:167089"], "information_content": 100.0}
{"id": "MONDO:0013280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myxoid liposarcoma", "inheritance": "Somatic mosaicism", "equivalent_identifiers": ["MONDO:0013280", "DOID:5363", "DOID:5709", "OMIM:613488", "EFO:0000613", "UMLS:C0206634", "MESH:D018208", "MEDDRA:10073137", "NCIT:C27781", "SNOMEDCT:27849002", "SNOMEDCT:404069006", "medgen:104903", "HP:0012268"], "information_content": 83.6}
{"id": "MONDO:0008791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anencephaly 1", "equivalent_identifiers": ["MONDO:0008791", "OMIM:206500", "orphanet:1048", "UMLS:C5561928", "medgen:1794138"], "information_content": 100.0}
{"id": "MONDO:0013007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to ORAI1 deficiency", "equivalent_identifiers": ["MONDO:0013007", "DOID:0111976", "OMIM:612782", "orphanet:317428", "UMLS:C2748568", "MESH:C557826", "medgen:440578", "icd11.foundation:677672007"], "information_content": 100.0}
{"id": "MONDO:0031062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 7", "equivalent_identifiers": ["MONDO:0031062", "DOID:0060952", "OMIM:620056", "UMLS:C5774222", "medgen:1823995"], "information_content": 100.0}
{"id": "MONDO:0060631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alkuraya-Kucinskas syndrome", "equivalent_identifiers": ["MONDO:0060631", "DOID:0111555", "OMIM:617822", "orphanet:610569", "UMLS:C4693347", "SNOMEDCT:1351836007", "medgen:1634304"], "information_content": 100.0}
{"id": "MONDO:0010995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1C", "equivalent_identifiers": ["MONDO:0010995", "DOID:0110151", "OMIM:601098", "orphanet:101083", "UMLS:C0270913", "MESH:C537984", "SNOMEDCT:4183003", "medgen:75728", "icd11.foundation:1224517226"], "information_content": 100.0}
{"id": "MONDO:0014568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 73", "equivalent_identifiers": ["MONDO:0014568", "DOID:0110818", "OMIM:616282", "orphanet:444099", "UMLS:C5568981", "SNOMEDCT:1187468005", "medgen:1800404"], "information_content": 100.0}
{"id": "HP:0034399", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prolonged central motor conduction time", "equivalent_identifiers": ["HP:0034399", "UMLS:C4229185"], "information_content": 100.0}
{"id": "MONDO:0010795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oncocytic neoplasm", "inheritance": "Mitochondrial inheritance", "equivalent_identifiers": ["MONDO:0010795", "OMIM:553000", "UMLS:C1378050", "NCIT:C7072", "medgen:237181"], "information_content": 76.9}
{"id": "MONDO:0003825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney oncocytoma", "equivalent_identifiers": ["MONDO:0003825", "DOID:6245", "EFO:1000315", "UMLS:C0346255", "MESH:C537750", "MEDDRA:10050176", "NCIT:C4526", "SNOMEDCT:254922006", "medgen:91094", "HP:0011798"], "information_content": 92.8}
{"id": "MONDO:0958238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperemesis gravidarum, susceptibility to", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0958238", "OMIM:620730", "UMLS:C5889860", "medgen:1857498"], "information_content": 100.0}
{"id": "MONDO:0013781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism type 2D", "equivalent_identifiers": ["MONDO:0013781", "OMIM:614495", "orphanet:300525", "UMLS:C3469605", "medgen:483335", "icd11.foundation:1679339588"], "information_content": 100.0}
{"id": "MONDO:0013201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 4B", "equivalent_identifiers": ["MONDO:0013201", "DOID:0110954", "OMIM:613265", "UMLS:C2750457", "MESH:C567680", "medgen:412961"], "information_content": 100.0}
{"id": "MONDO:0011551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TH-deficient dopa-responsive dystonia", "equivalent_identifiers": ["MONDO:0011551", "OMIM:605407", "orphanet:101150", "UMLS:C2673535", "SNOMEDCT:715827001", "medgen:382128"], "information_content": 100.0}
{"id": "MONDO:0971152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 125", "equivalent_identifiers": ["MONDO:0971152", "DOID:0061124", "OMIM:620877", "UMLS:C5935633", "medgen:1861028"], "information_content": 100.0}
{"id": "MONDO:0032680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "global developmental delay with or without impaired intellectual development", "equivalent_identifiers": ["MONDO:0032680", "OMIM:618330", "EFO:0010260", "UMLS:C5193032", "medgen:1675328"], "information_content": 100.0}
{"id": "MONDO:0017843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital pulmonary sequestration", "equivalent_identifiers": ["MONDO:0017843", "orphanet:3161", "UMLS:C0006288", "UMLS:C4020703", "MESH:D001998", "MEDDRA:10059160", "NCIT:C97124", "SNOMEDCT:18620009", "medgen:892881", "icd11.foundation:1833083626", "HP:0100632"], "information_content": 90.9}
{"id": "MONDO:0012086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 31", "equivalent_identifiers": ["MONDO:0012086", "DOID:0110561", "OMIM:608645", "UMLS:C1837617", "MESH:C563888", "medgen:325209"], "information_content": 100.0}
{"id": "MONDO:0043765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "presbycusis", "equivalent_identifiers": ["MONDO:0043765", "EFO:0005782", "UMLS:C0033074", "MESH:D011304", "MEDDRA:10011883", "MEDDRA:10036625", "MEDDRA:10036626", "MEDDRA:10036627", "MEDDRA:10039963", "MEDDRA:10039985", "NCIT:C116367", "SNOMEDCT:49526009", "medgen:10911", "icd11.foundation:1569854675", "HP:0040113"], "information_content": 92.8}
{"id": "MONDO:0032761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 114", "equivalent_identifiers": ["MONDO:0032761", "DOID:0111642", "OMIM:618456", "UMLS:C5193107", "medgen:1684024"], "information_content": 100.0}
{"id": "OMIM:617765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 14", "equivalent_identifiers": ["OMIM:617765", "UMLS:C4540380"]}
{"id": "MONDO:0011540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 14", "equivalent_identifiers": ["MONDO:0011540", "DOID:0050964", "OMIM:605361", "orphanet:98763", "UMLS:C1854369", "MESH:C537196", "SNOMEDCT:719210007", "medgen:343106", "icd11.foundation:736357100"], "information_content": 100.0}
{"id": "MONDO:0011545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nocturnal frontal lobe epilepsy 3", "equivalent_identifiers": ["MONDO:0011545", "DOID:0060684", "OMIM:605375", "UMLS:C1854335", "MESH:C565334", "medgen:344263"], "information_content": 100.0}
{"id": "MONDO:0008577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toe, misshapen", "equivalent_identifiers": ["MONDO:0008577", "OMIM:189100", "UMLS:C1861061", "medgen:396052"], "information_content": 100.0}
{"id": "MONDO:0013663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-activating factor acetylhydrolase deficiency", "equivalent_identifiers": ["MONDO:0013663", "OMIM:614278", "UMLS:C3280315", "MESH:C566640", "medgen:481945", "HP:0040175"], "information_content": 100.0}
{"id": "HP:0040178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of platelet-activating factor", "equivalent_identifiers": ["HP:0040178", "UMLS:C4073143"], "information_content": 100.0}
{"id": "MONDO:0013293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 6", "equivalent_identifiers": ["MONDO:0013293", "DOID:0060835", "OMIM:613517", "UMLS:C3150757", "medgen:462107", "ICD10:Q11.0"], "information_content": 100.0}
{"id": "MONDO:0033366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 57", "equivalent_identifiers": ["MONDO:0033366", "DOID:0080284", "OMIM:617771", "UMLS:C4540411", "medgen:1621769"], "information_content": 100.0}
{"id": "MONDO:0011125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 1, photosensitive", "equivalent_identifiers": ["MONDO:0011125", "DOID:0111873", "OMIM:601675", "UMLS:C1866504", "UMLS:C1866505", "MESH:C566643", "NCIT:C156433", "medgen:355730"], "information_content": 100.0}
{"id": "HP:0034354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichoschisis", "equivalent_identifiers": ["HP:0034354", "UMLS:C1274711", "SNOMEDCT:403336005"], "information_content": 100.0}
{"id": "MONDO:0020777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation with defective fucosylation 2", "equivalent_identifiers": ["MONDO:0020777", "OMIM:618324", "UMLS:C5193028", "medgen:1676187"], "information_content": 100.0}
{"id": "MONDO:0014866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2T", "equivalent_identifiers": ["MONDO:0014866", "DOID:0110160", "OMIM:617017", "orphanet:443950", "EFO:0009162", "UMLS:C4015635", "SNOMEDCT:1187128001", "medgen:864072"], "information_content": 100.0}
{"id": "MONDO:0014583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 3A", "equivalent_identifiers": ["MONDO:0014583", "DOID:0110666", "OMIM:616321", "UMLS:C4225372", "medgen:898378"], "information_content": 100.0}
{"id": "MONDO:0033566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 48", "equivalent_identifiers": ["MONDO:0033566", "DOID:0112112", "OMIM:619012", "UMLS:C5436602", "medgen:1732052"], "information_content": 100.0}
{"id": "MONDO:0011162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 14 multiple types", "equivalent_identifiers": ["MONDO:0011162", "DOID:0110253", "OMIM:601885", "UMLS:C1866078", "MESH:C566608", "medgen:356152"], "information_content": 100.0}
{"id": "MONDO:0008567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid cancer, nonmedullary, 1", "equivalent_identifiers": ["MONDO:0008567", "OMIM:188550", "UMLS:C3501844", "UMLS:C4721429", "medgen:1648293"], "information_content": 100.0}
{"id": "MONDO:0012960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 5", "equivalent_identifiers": ["MONDO:0012960", "DOID:0070035", "OMIM:612621", "orphanet:544254", "UMLS:C2675473", "MESH:C567234", "NCIT:C178414", "SNOMEDCT:1222656005", "medgen:382611"], "information_content": 100.0}
{"id": "MONDO:0007771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperpigmentation with or without hypopigmentation, familial progressive", "equivalent_identifiers": ["MONDO:0007771", "DOID:0111373", "OMIM:145250", "UMLS:C1840392", "MESH:C564163", "medgen:333550"], "information_content": 95.4}
{"id": "HP:0007505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive hyperpigmentation", "equivalent_identifiers": ["HP:0007505", "UMLS:C4024859"], "information_content": 100.0}
{"id": "MONDO:0010596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "membranoproliferative glomerulonephritis, X-linked", "equivalent_identifiers": ["MONDO:0010596", "OMIM:305800", "UMLS:C1844501", "MESH:C564423", "medgen:336706"], "information_content": 100.0}
{"id": "HP:0001693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiac shunt", "equivalent_identifiers": ["HP:0001693", "UMLS:C0232180", "SNOMEDCT:442119001"], "information_content": 90.9}
{"id": "MONDO:0013652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "narcolepsy 7", "equivalent_identifiers": ["MONDO:0013652", "OMIM:614250", "UMLS:C3280266", "medgen:481896"], "information_content": 100.0}
{"id": "MONDO:0030693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 96", "equivalent_identifiers": ["MONDO:0030693", "DOID:0061066", "OMIM:619774", "UMLS:C5676930", "medgen:1810465"], "information_content": 100.0}
{"id": "MONDO:0054802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrocytosis, familial, 7", "equivalent_identifiers": ["MONDO:0054802", "DOID:0111631", "OMIM:617981", "UMLS:C4693823", "medgen:1642594"], "information_content": 100.0}
{"id": "MONDO:0010506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 61", "equivalent_identifiers": ["MONDO:0010506", "DOID:0112042", "OMIM:300978", "UMLS:C4283894", "medgen:924419"], "information_content": 100.0}
{"id": "MONDO:0024528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "equivalent_identifiers": ["MONDO:0024528", "DOID:0111521", "OMIM:157640", "UMLS:C1834846", "medgen:371919"], "information_content": 100.0}
{"id": "MONDO:0010849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, Bothnian type", "equivalent_identifiers": ["MONDO:0010849", "DOID:0111707", "OMIM:600231", "orphanet:2337", "UMLS:C1838359", "MESH:C536173", "medgen:325011"], "information_content": 100.0}
{"id": "MONDO:0011691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 3", "equivalent_identifiers": ["MONDO:0011691", "DOID:0060195", "OMIM:606640", "UMLS:C1847735", "MESH:C564688", "SNOMEDCT:1201950008", "medgen:339829"], "information_content": 100.0}
{"id": "MONDO:0009568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mast syndrome", "equivalent_identifiers": ["MONDO:0009568", "DOID:0060245", "OMIM:248900", "orphanet:101001", "UMLS:C1855346", "MESH:C565409", "SNOMEDCT:764734003", "medgen:343325"], "information_content": 100.0}
{"id": "MONDO:0005640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "akinetic mutism", "equivalent_identifiers": ["MONDO:0005640", "DOID:4267", "EFO:0007138", "UMLS:C0001889", "MESH:D000405", "MEDDRA:10001542", "MEDDRA:10063030", "SNOMEDCT:53333005", "medgen:7942", "icd11.foundation:1448580674", "HP:0012672"], "information_content": 100.0}
{"id": "MONDO:0014592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly and chorioretinopathy 3", "equivalent_identifiers": ["MONDO:0014592", "DOID:0080107", "OMIM:616335", "UMLS:C4225362", "medgen:902924"], "information_content": 100.0}
{"id": "MONDO:0958202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "moyamoya disease 7", "equivalent_identifiers": ["MONDO:0958202", "OMIM:620687", "UMLS:C5882748", "medgen:1851566"], "information_content": 100.0}
{"id": "MONDO:0010093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndesmodysplasic dwarfism", "equivalent_identifiers": ["MONDO:0010093", "OMIM:272450", "UMLS:C2931647", "MESH:C537869", "medgen:419461"], "information_content": 100.0}
{"id": "MONDO:0010613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn glycerol kinase deficiency", "equivalent_identifiers": ["MONDO:0010613", "DOID:0060363", "OMIM:307030", "orphanet:308993", "UMLS:C0268418", "UMLS:C4477039", "MESH:C000721294", "NCIT:C124845", "SNOMEDCT:124322002", "medgen:82803", "HP:0040302"], "information_content": 88.2}
{"id": "HP:0008182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenocortical hypoplasia", "equivalent_identifiers": ["HP:0008182", "UMLS:C4024719"], "information_content": 100.0}
{"id": "HP:4000211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced glycerol kinase activity in cultured fibroblasts", "equivalent_identifiers": ["HP:4000211", "UMLS:C5872960"], "information_content": 100.0}
{"id": "MONDO:0032782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 63 with lymphoproliferation and autoimmunity", "equivalent_identifiers": ["MONDO:0032782", "DOID:0111997", "OMIM:618495", "UMLS:C5193126", "medgen:1682943"], "information_content": 100.0}
{"id": "MONDO:0030983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome, IIa 2F", "equivalent_identifiers": ["MONDO:0030983", "OMIM:619947", "UMLS:C5677013", "medgen:1809587"], "information_content": 100.0}
{"id": "MONDO:0032776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 99", "equivalent_identifiers": ["MONDO:0032776", "DOID:0111634", "OMIM:618481", "UMLS:C4760579", "medgen:1678930"], "information_content": 100.0}
{"id": "MONDO:0007414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gorham-Stout disease", "equivalent_identifiers": ["MONDO:0007414", "OMIM:123880", "orphanet:73", "UMLS:C0029438", "MEDDRA:10071283", "SNOMEDCT:1515008", "medgen:45248", "icd11.foundation:1318015458"], "information_content": 100.0}
{"id": "MONDO:0008272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polysyndactyly 4", "equivalent_identifiers": ["MONDO:0008272", "DOID:0060985", "OMIM:174700", "orphanet:93338", "UMLS:C1868111", "MESH:C536333", "medgen:357420", "icd11.foundation:973656080"], "information_content": 92.8}
{"id": "HP:0005688", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic distal thumb phalanges with a central hole", "equivalent_identifiers": ["HP:0005688", "UMLS:C4025153"], "information_content": 100.0}
{"id": "HP:0010713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-5 toe syndactyly", "equivalent_identifiers": ["HP:0010713", "UMLS:C4021235"], "information_content": 100.0}
{"id": "MONDO:0014360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 21", "equivalent_identifiers": ["MONDO:0014360", "DOID:0080443", "OMIM:615833", "UMLS:C4014430", "medgen:862867"], "information_content": 100.0}
{"id": "MONDO:0008447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 1", "equivalent_identifiers": ["MONDO:0008447", "DOID:0110916", "OMIM:182900", "UMLS:C2674218", "MESH:C567159", "medgen:382302"], "information_content": 100.0}
{"id": "MONDO:0011155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vacuolar Neuromyopathy", "equivalent_identifiers": ["MONDO:0011155", "OMIM:601846", "UMLS:C1866139", "MESH:C566617", "medgen:355637"], "information_content": 100.0}
{"id": "MONDO:0013671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydatidiform mole, recurrent, 2", "equivalent_identifiers": ["MONDO:0013671", "OMIM:614293", "UMLS:C3280352", "medgen:481982"], "information_content": 100.0}
{"id": "MONDO:0014664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 23", "equivalent_identifiers": ["MONDO:0014664", "DOID:0110992", "OMIM:616490", "UMLS:C4084822", "medgen:900119"], "information_content": 100.0}
{"id": "MONDO:0009447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis, split hairs, and amino aciduria", "equivalent_identifiers": ["MONDO:0009447", "OMIM:242550", "UMLS:C1855786", "MESH:C565471", "medgen:344576"], "information_content": 100.0}
{"id": "MONDO:0009347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial lipochrome histiocytosis", "equivalent_identifiers": ["MONDO:0009347", "OMIM:235900", "UMLS:C0334125", "MESH:C562738", "SNOMEDCT:234577004", "SNOMEDCT:28146005", "medgen:90743"], "information_content": 100.0}
{"id": "HP:0005413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased alpha-globulin", "equivalent_identifiers": ["HP:0005413", "UMLS:C1167806", "MEDDRA:10059543", "SNOMEDCT:124022007"], "information_content": 100.0}
{"id": "MONDO:0010217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "de Sanctis-Cacchione syndrome", "equivalent_identifiers": ["MONDO:0010217", "DOID:0112158", "OMIM:278800", "UMLS:C0265201", "MESH:C535992", "NCIT:C84666", "SNOMEDCT:414673004", "medgen:75550", "icd11.foundation:594988031"], "information_content": 100.0}
{"id": "HP:0008639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gonadal hypoplasia", "equivalent_identifiers": ["HP:0008639", "UMLS:C0239761"], "information_content": 89.4}
{"id": "MONDO:0012383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency", "equivalent_identifiers": ["MONDO:0012383", "DOID:0111967", "OMIM:609981", "orphanet:75391", "UMLS:C1864947", "UMLS:C4518328", "MESH:C566492", "NCIT:C123729", "SNOMEDCT:724275005", "medgen:351256"], "information_content": 100.0}
{"id": "MONDO:0032852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, congenital, with structured cores and z-line abnormalities", "equivalent_identifiers": ["MONDO:0032852", "DOID:0081342", "OMIM:618654", "UMLS:C5231445", "medgen:1684705"], "information_content": 100.0}
{"id": "MONDO:0012440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with or without aura, susceptibility to, 10", "equivalent_identifiers": ["MONDO:0012440", "OMIM:610208", "UMLS:C1857752", "medgen:341839"], "information_content": 100.0}
{"id": "MONDO:0014966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular nodular heterotopia 7", "equivalent_identifiers": ["MONDO:0014966", "OMIM:617201", "UMLS:C4310669", "medgen:934636"], "information_content": 100.0}
{"id": "HP:0010712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-4 toe syndactyly", "equivalent_identifiers": ["HP:0010712", "UMLS:C4023725"], "information_content": 95.4}
{"id": "MONDO:0012885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SRD5A3-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012885", "DOID:0080568", "OMIM:612379", "orphanet:324737", "UMLS:C4317224", "MESH:C567328", "SNOMEDCT:733601006", "medgen:1392124"], "information_content": 100.0}
{"id": "MONDO:0014169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyschromatosis universalis hereditaria 3", "equivalent_identifiers": ["MONDO:0014169", "OMIM:615402", "UMLS:C3809394", "medgen:815724"], "information_content": 100.0}
{"id": "MONDO:0010728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SCARF syndrome", "equivalent_identifiers": ["MONDO:0010728", "OMIM:312830", "orphanet:3134", "UMLS:C1839321", "MESH:C536625", "SNOMEDCT:734173003", "medgen:326461", "icd11.foundation:1075253748"], "information_content": 100.0}
{"id": "MONDO:0013113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal anadysplasia 2", "equivalent_identifiers": ["MONDO:0013113", "OMIM:613073", "UMLS:C2751322", "MESH:C567771", "medgen:414350"], "information_content": 100.0}
{"id": "MONDO:0029132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liddle syndrome 3", "equivalent_identifiers": ["MONDO:0029132", "OMIM:618126", "UMLS:C4748292", "medgen:1648443"], "information_content": 100.0}
{"id": "MONDO:0011092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ribbing disease", "equivalent_identifiers": ["MONDO:0011092", "OMIM:601477", "UMLS:C1832273", "MESH:C537613", "medgen:321923"], "information_content": 100.0}
{"id": "MONDO:0030981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 79", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0030981", "DOID:0112277", "OMIM:619238", "UMLS:C5543220", "medgen:1783683"], "information_content": 100.0}
{"id": "MONDO:0012621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-infertility syndrome", "equivalent_identifiers": ["MONDO:0012621", "OMIM:611102", "orphanet:94064", "UMLS:C1970187", "MESH:C567010", "SNOMEDCT:700489002", "medgen:370197", "icd11.foundation:1430704280"], "information_content": 100.0}
{"id": "HP:0012868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sperm tail morphology", "equivalent_identifiers": ["HP:0012868", "UMLS:C4022699"], "information_content": 85.5}
{"id": "MONDO:0009150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome", "equivalent_identifiers": ["MONDO:0009150", "OMIM:225050", "orphanet:1882", "UMLS:C1857052", "MESH:C565604", "SNOMEDCT:239050000", "medgen:384046"], "information_content": 100.0}
{"id": "MONDO:0019107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rh deficiency syndrome", "equivalent_identifiers": ["MONDO:0019107", "DOID:0050641", "OMIM:268150", "orphanet:71275", "UMLS:C0272052", "UMLS:C1292175", "UMLS:C1849387", "MESH:C562717", "MESH:C564833", "SNOMEDCT:115762007", "SNOMEDCT:37272000", "medgen:75772", "icd11.foundation:1554765420"], "information_content": 100.0}
{"id": "MONDO:0859200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia, brain abnormalities, and cardiac conduction defects", "equivalent_identifiers": ["MONDO:0859200", "OMIM:619576", "orphanet:641361", "UMLS:C5562005", "medgen:1794215"], "information_content": 100.0}
{"id": "MONDO:0014718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 34", "equivalent_identifiers": ["MONDO:0014718", "DOID:0080460", "OMIM:616645", "UMLS:C4225257", "medgen:899149"], "information_content": 100.0}
{"id": "DOID:9007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sudden infant death syndrome", "equivalent_identifiers": ["DOID:9007", "OMIM:272120", "EFO:0005303", "UMLS:C0038644", "MESH:D013398", "MEDDRA:10011220", "MEDDRA:10011910", "MEDDRA:10040666", "MEDDRA:10040667", "MEDDRA:10042439", "MEDDRA:10042440", "MEDDRA:10069606", "NCIT:C85173", "SNOMEDCT:51178009", "ICD9:798.0"], "information_content": 100.0}
{"id": "MONDO:0031446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercholanemia, familial 1", "equivalent_identifiers": ["MONDO:0031446", "OMIM:607748", "orphanet:238475", "UMLS:C5542604", "MESH:C564336", "SNOMEDCT:723360007", "medgen:1781366"], "information_content": 100.0}
{"id": "MONDO:0007927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital macroglossia", "equivalent_identifiers": ["MONDO:0007927", "OMIM:153630", "orphanet:2430", "UMLS:C0009677", "MESH:C531735", "MEDDRA:10025391", "MEDDRA:10063437", "SNOMEDCT:270516002", "medgen:3588", "icd11.foundation:423141418"], "information_content": 100.0}
{"id": "MONDO:0007280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 8 multiple types", "equivalent_identifiers": ["MONDO:0007280", "DOID:0110228", "OMIM:115665", "UMLS:C1861833", "MESH:C538285", "medgen:396230"], "information_content": 100.0}
{"id": "MONDO:0013546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2", "equivalent_identifiers": ["MONDO:0013546", "DOID:0060331", "OMIM:614052", "orphanet:1194", "UMLS:C3279699", "UMLS:C4273660", "MESH:C567528", "SNOMEDCT:718212006", "medgen:481329"], "information_content": 100.0}
{"id": "MONDO:0012901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited prekallikrein deficiency", "equivalent_identifiers": ["MONDO:0012901", "OMIM:612423", "orphanet:749", "MESH:C562725"], "information_content": 100.0}
{"id": "HP:0034371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating prekallikrein concentration", "equivalent_identifiers": ["HP:0034371", "UMLS:C5706195"], "information_content": 100.0}
{"id": "MONDO:0010016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sclerosteosis 1", "equivalent_identifiers": ["MONDO:0010016", "DOID:0060756", "OMIM:269500", "UMLS:C4551483", "medgen:1642815", "ICD10:M85.2"], "information_content": 100.0}
{"id": "HP:0007285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial palsy secondary to cranial hyperostosis", "equivalent_identifiers": ["HP:0007285", "UMLS:C1849260"], "information_content": 100.0}
{"id": "HP:0006415", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortically dense long tubular bones", "equivalent_identifiers": ["HP:0006415", "UMLS:C1849276"], "information_content": 100.0}
{"id": "MONDO:0009139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyssegmental dysplasia, Rolland-Desbuquois type", "equivalent_identifiers": ["MONDO:0009139", "OMIM:224400", "orphanet:156731", "UMLS:C0432209", "MESH:C537999", "SNOMEDCT:95243004", "medgen:98145", "icd11.foundation:1291444727"], "information_content": 100.0}
{"id": "MONDO:0007850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senter syndrome", "equivalent_identifiers": ["MONDO:0007850", "DOID:0060871", "OMIM:148210", "UMLS:C0265336", "medgen:120536"], "information_content": 100.0}
{"id": "MONDO:0008668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "von Willebrand disease 1", "equivalent_identifiers": ["MONDO:0008668", "DOID:0060573", "OMIM:193400", "orphanet:166078", "UMLS:C1264039", "MESH:D056725", "NCIT:C131685", "SNOMEDCT:128106003", "medgen:220393", "ICD10:D68.01"], "information_content": 100.0}
{"id": "MONDO:0012746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 2A", "equivalent_identifiers": ["MONDO:0012746", "DOID:0110460", "OMIM:611880", "UMLS:C2678474", "MESH:C567505", "medgen:437214"], "information_content": 100.0}
{"id": "MONDO:0011658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive early-onset Parkinson disease 7", "equivalent_identifiers": ["MONDO:0011658", "DOID:0060370", "OMIM:606324", "UMLS:C1853445", "MESH:C565238", "NCIT:C198606", "medgen:344049"], "information_content": 100.0}
{"id": "MONDO:0009838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parana hard-skin syndrome", "equivalent_identifiers": ["MONDO:0009838", "OMIM:260530", "orphanet:2812", "UMLS:C1850079", "MESH:C564905", "NCIT:C126559", "SNOMEDCT:783013001", "medgen:337964"], "information_content": 100.0}
{"id": "HP:0006596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restricted chest movement", "equivalent_identifiers": ["HP:0006596", "UMLS:C4025015"], "information_content": 100.0}
{"id": "MONDO:0012904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, progressive myoclonic, 1B", "equivalent_identifiers": ["MONDO:0012904", "DOID:0111448", "OMIM:612437", "UMLS:C2676254", "MESH:C580388", "SNOMEDCT:702326000", "medgen:394003"], "information_content": 100.0}
{"id": "MONDO:0030454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 39", "equivalent_identifiers": ["MONDO:0030454", "OMIM:619562", "UMLS:C5562000", "medgen:1794210"], "information_content": 100.0}
{"id": "MONDO:0014722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Roifman syndrome", "equivalent_identifiers": ["MONDO:0014722", "OMIM:616651", "orphanet:353298", "UMLS:C1846059", "MESH:C535866", "SNOMEDCT:773404000", "medgen:375801"], "information_content": 100.0}
{"id": "MONDO:0012445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 59", "equivalent_identifiers": ["MONDO:0012445", "DOID:0110511", "OMIM:610220", "UMLS:C1857744", "MESH:C565698", "medgen:387899"], "information_content": 100.0}
{"id": "MONDO:0012371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 3", "equivalent_identifiers": ["MONDO:0012371", "DOID:0060581", "OMIM:609942", "UMLS:C1860991", "MESH:C537847", "NCIT:C176931", "medgen:349931"], "information_content": 100.0}
{"id": "HP:0011321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left unilambdoid synostosis", "equivalent_identifiers": ["HP:0011321", "UMLS:C4023415"], "information_content": 100.0}
{"id": "MONDO:0032873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 87 with choroidal involvement", "equivalent_identifiers": ["MONDO:0032873", "OMIM:618697", "UMLS:C5231465", "medgen:1684667"], "information_content": 100.0}
{"id": "MONDO:0008433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small cell lung carcinoma", "equivalent_identifiers": ["MONDO:0008433", "DOID:5409", "DOID:5411", "OMIM:182280", "orphanet:70573", "EFO:0000702", "UMLS:C0149925", "UMLS:CN244903", "MESH:D055752", "MEDDRA:10041058", "MEDDRA:10041067", "MEDDRA:10041071", "MEDDRA:10087783", "NCIT:C4917", "SNOMEDCT:254632001", "medgen:57450", "icd11.foundation:1800431439", "KEGG.DISEASE:05222", "HP:0030357"], "information_content": 73.2}
{"id": "MONDO:0021117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung neoplasm", "equivalent_identifiers": ["MONDO:0021117", "UMLS:C0024121", "MESH:D008175", "MEDDRA:10049790", "MEDDRA:10062042", "NCIT:C3200", "SNOMEDCT:126713003", "medgen:7400", "HP:0100526"], "information_content": 58.1}
{"id": "MONDO:0975877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with variable familial hypercholanemia", "equivalent_identifiers": ["MONDO:0975877", "OMIM:621016", "UMLS:C5975528"], "information_content": 100.0}
{"id": "HP:0033733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-grade vesicoureteral reflux", "equivalent_identifiers": ["HP:0033733", "UMLS:C5539784"], "information_content": 92.8}
{"id": "MONDO:0009330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangiopericytoma, malignant", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009330", "OMIM:234820", "UMLS:C0334542", "MESH:C562740", "MEDDRA:10025566", "MEDDRA:10025569", "MEDDRA:10025571", "MEDDRA:10060650", "MEDDRA:10060654", "NCIT:C4301", "medgen:90803"], "information_content": 83.6}
{"id": "MONDO:0010966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achondrogenesis type IB", "equivalent_identifiers": ["MONDO:0010966", "DOID:0080055", "OMIM:600972", "orphanet:93298", "UMLS:C0265274", "MESH:C536016", "SNOMEDCT:14870002", "medgen:78547"], "information_content": 100.0}
{"id": "MONDO:0032869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6", "equivalent_identifiers": ["MONDO:0032869", "DOID:0111749", "OMIM:618683", "EFO:0010656", "UMLS:C5231461", "medgen:1684729"], "information_content": 100.0}
{"id": "MONDO:0044206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive", "equivalent_identifiers": ["MONDO:0044206", "OMIM:215150", "UMLS:C5551484", "medgen:1790497"], "information_content": 100.0}
{"id": "HP:0004679", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large tarsal bones", "equivalent_identifiers": ["HP:0004679", "UMLS:C1859116"], "information_content": 100.0}
{"id": "HP:0005003", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the capital femoral epiphysis", "equivalent_identifiers": ["HP:0005003", "UMLS:C4025261"], "information_content": 92.8}
{"id": "MONDO:0975843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 25", "equivalent_identifiers": ["MONDO:0975843", "OMIM:621002", "UMLS:C5975510"], "information_content": 100.0}
{"id": "MONDO:0013491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability", "equivalent_identifiers": ["MONDO:0013491", "DOID:0080317", "OMIM:613926", "UMLS:C3151356", "medgen:462706"], "information_content": 100.0}
{"id": "MONDO:0013569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 7 with or without polydactyly", "equivalent_identifiers": ["MONDO:0013569", "DOID:0110090", "OMIM:614091", "orphanet:498497", "UMLS:C3279792", "medgen:481422"], "information_content": 100.0}
{"id": "MONDO:0008858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Behr syndrome", "equivalent_identifiers": ["MONDO:0008858", "DOID:0111580", "OMIM:210000", "orphanet:1239", "UMLS:C0221061", "MESH:C537669", "NCIT:C177251", "SNOMEDCT:718221007", "medgen:66358"], "information_content": 100.0}
{"id": "HP:0006366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adductor longus contractures", "equivalent_identifiers": ["HP:0006366", "UMLS:C1859524", "SNOMEDCT:1004070004"], "information_content": 100.0}
{"id": "OMIM:617598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3", "equivalent_identifiers": ["OMIM:617598", "UMLS:C4539839"]}
{"id": "MONDO:0030031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 10", "equivalent_identifiers": ["MONDO:0030031", "DOID:0112229", "OMIM:618873", "UMLS:C5394354", "medgen:1719546"], "information_content": 100.0}
{"id": "HP:0032411", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior predominant subcortical band heterotopia", "equivalent_identifiers": ["HP:0032411", "UMLS:C5139325"], "information_content": 100.0}
{"id": "MONDO:0000685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visual agnosia", "equivalent_identifiers": ["MONDO:0000685", "DOID:0060155", "UMLS:C0234502", "UMLS:C2930796", "MESH:C531604", "MEDDRA:10077168", "NCIT:C35276", "SNOMEDCT:25762009", "medgen:115959", "HP:0030222"], "information_content": 85.5}
{"id": "MONDO:0970943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure, X-linked, 8", "equivalent_identifiers": ["MONDO:0970943", "DOID:0070599", "OMIM:301119", "UMLS:C5935568", "medgen:1858665"], "information_content": 100.0}
{"id": "MONDO:0010658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 12", "equivalent_identifiers": ["MONDO:0010658", "DOID:0060804", "OMIM:309545", "orphanet:85290", "UMLS:C1839792", "UMLS:C4305028", "MESH:C564106", "SNOMEDCT:719009006", "medgen:333405"], "information_content": 100.0}
{"id": "MONDO:0008963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chediak-Higashi syndrome", "equivalent_identifiers": ["MONDO:0008963", "DOID:2935", "OMIM:214500", "orphanet:167", "UMLS:C0007965", "MESH:D002609", "MEDDRA:10004202", "MEDDRA:10008415", "NCIT:C2941", "SNOMEDCT:111396008", "medgen:3347", "ICD10:E70.330"], "information_content": 90.9}
{"id": "HP:0032499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giant neutrophil granules", "equivalent_identifiers": ["HP:0032499", "UMLS:C5139386"], "information_content": 100.0}
{"id": "HP:0005429", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent systemic pyogenic infections", "equivalent_identifiers": ["HP:0005429", "UMLS:C4025196"], "information_content": 100.0}
{"id": "HP:0012484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dense granules", "equivalent_identifiers": ["HP:0012484", "UMLS:C4022885"], "information_content": 87.2}
{"id": "MONDO:0957538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis 28", "equivalent_identifiers": ["MONDO:0957538", "DOID:0081382", "OMIM:620452", "UMLS:C5830642", "medgen:1841278"], "information_content": 100.0}
{"id": "MONDO:0011604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylo-ocular syndrome", "equivalent_identifiers": ["MONDO:0011604", "OMIM:605822", "orphanet:85194", "UMLS:C4225412", "SNOMEDCT:715653007", "medgen:900371", "icd11.foundation:1611450426"], "information_content": 100.0}
{"id": "MONDO:0024545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miyoshi muscular dystrophy 1", "equivalent_identifiers": ["MONDO:0024545", "DOID:0070199", "OMIM:254130", "UMLS:C4551973", "medgen:1640757"], "information_content": 100.0}
{"id": "HP:0200101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased/absent ankle reflexes", "equivalent_identifiers": ["HP:0200101", "UMLS:C1850816"], "information_content": 95.4}
{"id": "MONDO:0008229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroneal nerve, accessory deep", "equivalent_identifiers": ["MONDO:0008229", "OMIM:170980", "UMLS:C1868426", "MESH:C536001", "medgen:358317"], "information_content": 100.0}
{"id": "MONDO:0007486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary benign intraepithelial dyskeratosis", "equivalent_identifiers": ["MONDO:0007486", "OMIM:127600", "orphanet:352657", "UMLS:C0265966", "MESH:C562551", "NCIT:C3940", "SNOMEDCT:400014002", "medgen:75588", "icd11.foundation:2059594980"], "information_content": 100.0}
{"id": "MONDO:0958186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hematuria, benign familial, 2", "equivalent_identifiers": ["MONDO:0958186", "OMIM:620320", "UMLS:C5830421", "medgen:1841057"], "information_content": 100.0}
{"id": "HP:0033282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal glomerular basement membrane morphology", "equivalent_identifiers": ["HP:0033282", "UMLS:C5539478"], "information_content": 79.3}
{"id": "MONDO:0010754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van den Bosch syndrome", "equivalent_identifiers": ["MONDO:0010754", "OMIM:314500", "orphanet:3417", "UMLS:C0796192", "MESH:C563129", "SNOMEDCT:733110004", "medgen:162920"], "information_content": 100.0}
{"id": "MONDO:0007368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial benign copper deficiency", "equivalent_identifiers": ["MONDO:0007368", "OMIM:121270", "orphanet:1551", "UMLS:C1852576", "MESH:C535468", "SNOMEDCT:763531001", "medgen:338958"], "information_content": 100.0}
{"id": "HP:0002234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early balding", "equivalent_identifiers": ["HP:0002234", "UMLS:C4025718"], "information_content": 100.0}
{"id": "MONDO:0957533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts 3", "equivalent_identifiers": ["MONDO:0957533", "OMIM:620447", "UMLS:C5830625", "medgen:1841261"], "information_content": 100.0}
{"id": "MONDO:0054698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CANDLE syndrome", "equivalent_identifiers": ["MONDO:0054698", "OMIM:256040", "UMLS:C4746851", "UMLS:C4749059", "MEDDRA:10073960", "MEDDRA:10073961", "NCIT:C176619", "medgen:1648310"], "information_content": 100.0}
{"id": "MONDO:0010717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase E1-alpha deficiency", "equivalent_identifiers": ["MONDO:0010717", "OMIM:312170", "orphanet:79243", "UMLS:C0751597", "UMLS:C1839413", "MESH:C564071", "SNOMEDCT:124593001", "medgen:326486"], "information_content": 100.0}
{"id": "MONDO:0013493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acetyl-coa carboxylase deficiency", "equivalent_identifiers": ["MONDO:0013493", "OMIM:613933", "UMLS:C0268603", "MESH:C562678", "SNOMEDCT:4920001", "medgen:124338"], "information_content": 100.0}
{"id": "HP:6000430", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue acetyl-CoA carboxylase activity", "equivalent_identifiers": ["HP:6000430", "UMLS:C5937208"], "information_content": 100.0}
{"id": "MONDO:0030027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 6", "equivalent_identifiers": ["MONDO:0030027", "DOID:0081295", "OMIM:618866", "UMLS:C5394329", "medgen:1711112"], "information_content": 100.0}
{"id": "HP:0012477", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vocal tremor", "equivalent_identifiers": ["HP:0012477", "UMLS:C4022889"], "information_content": 100.0}
{"id": "MONDO:0007548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient bullous dermolysis of the newborn", "equivalent_identifiers": ["MONDO:0007548", "DOID:0111345", "OMIM:131705", "orphanet:79411", "UMLS:C1851573", "MESH:C536979", "SNOMEDCT:723553000", "medgen:343607"], "information_content": 100.0}
{"id": "MONDO:0958187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C1Q deficiency 2", "equivalent_identifiers": ["MONDO:0958187", "OMIM:620321", "UMLS:C5830422", "medgen:1841058"], "information_content": 100.0}
{"id": "HP:0033476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Extractable nuclear antigen positivity", "equivalent_identifiers": ["HP:0033476", "UMLS:C5539626"], "information_content": 87.2}
{"id": "MONDO:0014735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2Y", "equivalent_identifiers": ["MONDO:0014735", "DOID:0110168", "OMIM:616687", "orphanet:435387", "UMLS:C5569026", "NCIT:C168974", "SNOMEDCT:1187565005", "medgen:1800449"], "information_content": 100.0}
{"id": "MONDO:0007653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "genochondromatosis", "equivalent_identifiers": ["MONDO:0007653", "OMIM:137360", "UMLS:C1300229", "MESH:C563215", "SNOMEDCT:389264005", "medgen:224887", "icd11.foundation:1222756922"], "information_content": 92.8}
{"id": "HP:0030298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal chondromatosis of humerus", "equivalent_identifiers": ["HP:0030298", "UMLS:C4021860"], "information_content": 100.0}
{"id": "HP:0030295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal chondromatosis of femur", "equivalent_identifiers": ["HP:0030295", "UMLS:C4022530"], "information_content": 100.0}
{"id": "MONDO:0009311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "grouped pigmentation of the retina", "equivalent_identifiers": ["MONDO:0009311", "OMIM:233800", "UMLS:C1856244", "MESH:C565530", "medgen:341100"], "information_content": 100.0}
{"id": "MONDO:0030030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nizon-Isidor syndrome", "equivalent_identifiers": ["MONDO:0030030", "OMIM:618872", "UMLS:C5394350", "medgen:1715748"], "information_content": 100.0}
{"id": "MONDO:0009485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocerebrofacial syndrome, Kaufman type", "equivalent_identifiers": ["MONDO:0009485", "DOID:0111456", "OMIM:244450", "orphanet:2707", "UMLS:C1855663", "MESH:C537013", "SNOMEDCT:722056009", "medgen:343403"], "information_content": 100.0}
{"id": "MONDO:0033364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 55", "equivalent_identifiers": ["MONDO:0033364", "DOID:0080283", "OMIM:617599", "UMLS:C4539843", "medgen:1622363"], "information_content": 100.0}
{"id": "MONDO:0013568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sick sinus syndrome 3, susceptibility to", "equivalent_identifiers": ["MONDO:0013568", "OMIM:614090", "UMLS:C3279791", "medgen:481421"], "information_content": 100.0}
{"id": "MONDO:0012888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcoidosis, susceptibility to, 2", "equivalent_identifiers": ["MONDO:0012888", "OMIM:612387", "UMLS:C2676468", "medgen:436694"], "information_content": 100.0}
{"id": "MONDO:0957539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 22, juvenile-onset", "equivalent_identifiers": ["MONDO:0957539", "DOID:0060966", "OMIM:620453", "UMLS:C5830645", "medgen:1841281"], "information_content": 100.0}
{"id": "MONDO:0958322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked, syndromic 37", "equivalent_identifiers": ["MONDO:0958322", "OMIM:301118", "UMLS:C5935567", "medgen:1854940"], "information_content": 100.0}
{"id": "HP:0030031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small toe", "equivalent_identifiers": ["HP:0030031", "UMLS:C4022667"], "information_content": 100.0}
{"id": "MONDO:0008823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 2, neurogenic type", "equivalent_identifiers": ["MONDO:0008823", "DOID:0090124", "OMIM:208100", "orphanet:1143", "UMLS:C1859721", "UMLS:C5435650", "MESH:C536614", "SNOMEDCT:715316005", "medgen:1725686"], "information_content": 90.9}
{"id": "MONDO:0009490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papillon-Lefevre disease", "equivalent_identifiers": ["MONDO:0009490", "DOID:3389", "OMIM:245000", "orphanet:678", "UMLS:C0030360", "MESH:D010214", "MEDDRA:10082856", "NCIT:C84992", "SNOMEDCT:40158001", "medgen:45306"], "information_content": 100.0}
{"id": "HP:0006308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy of alveolar ridges", "equivalent_identifiers": ["HP:0006308", "UMLS:C0002382", "UMLS:C1855642", "UMLS:C4280454", "UMLS:C4280455", "MEDDRA:10074846", "SNOMEDCT:109706009", "MESH:D016301"], "information_content": 95.4}
{"id": "MONDO:0008608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Down syndrome", "equivalent_identifiers": ["MONDO:0008608", "DOID:14250", "OMIM:190685", "orphanet:870", "EFO:0001064", "UMLS:C0013080", "UMLS:C1860786", "UMLS:C1860787", "MESH:C566023", "MESH:D004314", "MEDDRA:10013616", "MEDDRA:10027816", "MEDDRA:10042801", "MEDDRA:10044688", "NCIT:C2993", "SNOMEDCT:41040004", "SNOMEDCT:737542000", "medgen:4385", "icd11.foundation:1624623908", "ICD10:Q90", "ICD9:758.0"], "information_content": 83.6}
{"id": "HP:0025656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prenatal double bubble sign", "equivalent_identifiers": ["HP:0025656", "UMLS:C5676602"], "information_content": 100.0}
{"id": "MONDO:0018872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute megakaryoblastic leukemia", "equivalent_identifiers": ["MONDO:0018872", "DOID:8761", "orphanet:518", "EFO:0003025", "UMLS:C0023462", "MESH:D007947", "MEDDRA:10000859", "MEDDRA:10000860", "MEDDRA:10000861", "MEDDRA:10027121", "MEDDRA:10027122", "MEDDRA:10027124", "MEDDRA:10060556", "NCIT:C3170", "SNOMEDCT:188754005", "SNOMEDCT:277602003", "SNOMEDCT:52220008", "medgen:44124", "icd11.foundation:2057381869", "ICD10:C94.2", "ICD9:207.2", "HP:0006733"], "information_content": 88.2}
{"id": "HP:0025705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fetal nasal bone visualization", "equivalent_identifiers": ["HP:0025705", "UMLS:C5676633"], "information_content": 92.8}
{"id": "MONDO:0030525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 2B, generalized intermediate", "equivalent_identifiers": ["MONDO:0030525", "OMIM:619588", "UMLS:C5562009", "medgen:1794219"], "information_content": 100.0}
{"id": "MONDO:0958071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hao-Fountain syndrome due to USP7 mutation", "equivalent_identifiers": ["MONDO:0958071", "OMIM:616863", "orphanet:643538", "UMLS:C5816734", "medgen:1853151"], "information_content": 100.0}
{"id": "MONDO:0010622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive X-linked ichthyosis", "equivalent_identifiers": ["MONDO:0010622", "DOID:1700", "OMIM:308100", "orphanet:461", "EFO:0009080", "UMLS:C0079588", "UMLS:C2677713", "UMLS:C2717836", "UMLS:C2720163", "MESH:C567443", "MESH:D016114", "MEDDRA:10048063", "NCIT:C84779", "SNOMEDCT:3642008", "SNOMEDCT:3944006", "SNOMEDCT:72523005", "medgen:86937", "icd11.foundation:1466487054", "ICD10:Q80.1"], "information_content": 95.4}
{"id": "MONDO:0021348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neoplasm of testis", "equivalent_identifiers": ["MONDO:0021348", "EFO:0004281", "UMLS:C0039590", "MEDDRA:10043342", "MEDDRA:10061379", "NCIT:C3404", "SNOMEDCT:126900000", "medgen:52675", "HP:0010788"], "information_content": 65.0}
{"id": "MONDO:0012873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, spondylocheirodysplastic type", "equivalent_identifiers": ["MONDO:0012873", "DOID:0080739", "OMIM:612350", "orphanet:157965", "UMLS:C2676510", "MESH:C567340", "SNOMEDCT:773276004", "medgen:393515", "icd11.foundation:1653521697"], "information_content": 100.0}
{"id": "MONDO:0010565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protanomaly", "equivalent_identifiers": ["MONDO:0010565", "DOID:13910", "OMIM:303900", "EFO:0005580", "UMLS:C0155015", "UMLS:C3887980", "MEDDRA:10036986", "SNOMEDCT:51445007", "medgen:56350", "ICD9:368.51", "HP:0200018"], "information_content": 100.0}
{"id": "MONDO:0012173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0012173", "OMIM:609016", "orphanet:5", "UMLS:C3711645", "MEDDRA:10072278", "MEDDRA:10078728", "NCIT:C129929", "SNOMEDCT:726021008", "medgen:778253", "icd11.foundation:760613381"], "information_content": 100.0}
{"id": "MONDO:0957578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia 10", "equivalent_identifiers": ["MONDO:0957578", "OMIM:620484", "UMLS:C5882682", "medgen:1847819"], "information_content": 100.0}
{"id": "MONDO:0014976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014976", "DOID:0111488", "OMIM:617228", "orphanet:478049", "UMLS:C4310661", "medgen:934628"], "information_content": 100.0}
{"id": "MONDO:0012747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to aldolase A deficiency", "equivalent_identifiers": ["MONDO:0012747", "OMIM:611881", "orphanet:57", "UMLS:C0272066", "MESH:C562718", "SNOMEDCT:111578003", "SNOMEDCT:1187461004", "medgen:82895", "icd11.foundation:1020924235"], "information_content": 100.0}
{"id": "HP:6000555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity", "equivalent_identifiers": ["HP:6000555", "UMLS:C5937317"], "information_content": 100.0}
{"id": "MONDO:0013392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 10", "equivalent_identifiers": ["MONDO:0013392", "DOID:0050999", "OMIM:613728", "orphanet:284289", "UMLS:C3150998", "SNOMEDCT:785302009", "medgen:462348"], "information_content": 100.0}
{"id": "HP:0004835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microspherocytosis", "equivalent_identifiers": ["HP:0004835", "UMLS:C4025285"], "information_content": 100.0}
{"id": "MONDO:0012900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial restrictive, 3", "equivalent_identifiers": ["MONDO:0012900", "DOID:0111427", "OMIM:612422", "UMLS:C2676271", "MESH:C567316", "medgen:382807"], "information_content": 100.0}
{"id": "MONDO:0013547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3", "equivalent_identifiers": ["MONDO:0013547", "DOID:0060332", "OMIM:614053", "UMLS:C3279708", "medgen:481338"], "information_content": 100.0}
{"id": "MONDO:0011038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAPOS syndrome", "equivalent_identifiers": ["MONDO:0011038", "OMIM:601338", "orphanet:1171", "UMLS:C1832466", "MESH:C535351", "SNOMEDCT:720634003", "medgen:318633"], "information_content": 100.0}
{"id": "HP:0004372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced consciousness", "equivalent_identifiers": ["HP:0004372", "UMLS:C0234428", "UMLS:C3280889", "MEDDRA:10010765", "SNOMEDCT:3006004"], "information_content": 79.0}
{"id": "MONDO:0957584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 85", "equivalent_identifiers": ["MONDO:0957584", "DOID:0070584", "OMIM:620490", "UMLS:C5882685", "medgen:1849976"], "information_content": 100.0}
{"id": "MONDO:0012753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 9", "equivalent_identifiers": ["MONDO:0012753", "DOID:0060200", "OMIM:611895", "UMLS:C2678468", "MESH:C567499", "SNOMEDCT:1204351003", "medgen:395629"], "information_content": 100.0}
{"id": "MONDO:0010926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypocalciuric hypercalcemia 3", "equivalent_identifiers": ["MONDO:0010926", "DOID:0060702", "OMIM:600740", "orphanet:101050", "UMLS:C1833372", "MESH:C537147", "medgen:322173"], "information_content": 100.0}
{"id": "MONDO:0030994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without autism or seizures", "equivalent_identifiers": ["MONDO:0030994", "OMIM:619239", "UMLS:C5543225", "medgen:1784023"], "information_content": 100.0}
{"id": "MONDO:0014970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 17", "equivalent_identifiers": ["MONDO:0014970", "DOID:0070174", "OMIM:617214", "UMLS:C4310666", "medgen:934633"], "information_content": 100.0}
{"id": "MONDO:0009214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group D2", "equivalent_identifiers": ["MONDO:0009214", "DOID:0111083", "OMIM:227646", "UMLS:C3160738", "NCIT:C125706", "medgen:463627"], "information_content": 92.8}
{"id": "MONDO:0010066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated congenital asplenia", "equivalent_identifiers": ["MONDO:0010066", "OMIM:271400", "orphanet:101351", "UMLS:C0685889", "UMLS:C4512055", "MESH:C563028", "SNOMEDCT:205735005", "SNOMEDCT:726708009", "SNOMEDCT:93292008", "medgen:151935"], "information_content": 100.0}
{"id": "MONDO:0032844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile liver failure syndrome 3", "equivalent_identifiers": ["MONDO:0032844", "OMIM:618641", "UMLS:C5231437", "medgen:1684678"], "information_content": 100.0}
{"id": "HP:0003170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal acetabulum morphology", "equivalent_identifiers": ["HP:0003170", "UMLS:C4021739"], "information_content": 83.1}
{"id": "MONDO:0033123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 7", "equivalent_identifiers": ["MONDO:0033123", "DOID:0080264", "OMIM:617572", "UMLS:C4539767", "medgen:1626650"], "information_content": 100.0}
{"id": "MONDO:0012441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine with or without aura, susceptibility to, 11", "equivalent_identifiers": ["MONDO:0012441", "OMIM:610209", "UMLS:C1857751", "medgen:387900"], "information_content": 100.0}
{"id": "MONDO:0032853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, distal, 6, adult-onset, autosomal dominant", "equivalent_identifiers": ["MONDO:0032853", "OMIM:618655", "UMLS:C5203349", "medgen:1684760"], "information_content": 100.0}
{"id": "MONDO:0007729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental dysplasia of the hip 1", "equivalent_identifiers": ["MONDO:0007729", "DOID:0060931", "OMIM:142700", "UMLS:C1306065", "medgen:266288"], "information_content": 100.0}
{"id": "MONDO:0007796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism, familial isolated 1", "equivalent_identifiers": ["MONDO:0007796", "OMIM:146200", "UMLS:C5241444", "SNOMEDCT:237657009", "medgen:1713884"], "information_content": 92.8}
{"id": "HP:0031990", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chvostek sign", "equivalent_identifiers": ["HP:0031990", "UMLS:C0234180", "MEDDRA:10051518", "SNOMEDCT:44717005"], "information_content": 100.0}
{"id": "MONDO:0011088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 1A", "equivalent_identifiers": ["MONDO:0011088", "DOID:0110663", "OMIM:601462", "UMLS:C2931107", "UMLS:C4084823", "MESH:C536091", "medgen:419336"], "information_content": 95.4}
{"id": "HP:0004889", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent episodes of respiratory insufficiency due to muscle weakness", "equivalent_identifiers": ["HP:0004889", "UMLS:C3807025"], "information_content": 100.0}
{"id": "MONDO:0012011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary artery disease, autosomal dominant, 1", "equivalent_identifiers": ["MONDO:0012011", "OMIM:608320", "UMLS:C1842247", "MESH:C564258", "medgen:330802"], "information_content": 100.0}
{"id": "MONDO:0008924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital cataract-ichthyosis syndrome", "equivalent_identifiers": ["MONDO:0008924", "OMIM:212400", "UMLS:C1859315", "MESH:C538281", "medgen:347122"], "information_content": 100.0}
{"id": "MONDO:0014665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2V", "equivalent_identifiers": ["MONDO:0014665", "DOID:0110178", "OMIM:616491", "orphanet:447964", "UMLS:C5569050", "SNOMEDCT:1187618009", "medgen:1800473"], "information_content": 100.0}
{"id": "OMIM:265850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pygmy (disorder)", "equivalent_identifiers": ["OMIM:265850", "UMLS:C1849524"]}
{"id": "MONDO:0014080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerotic metaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0014080", "DOID:0081111", "OMIM:615198", "orphanet:500548", "UMLS:C3554665", "SNOMEDCT:1237513008", "medgen:767579"], "information_content": 100.0}
{"id": "MONDO:0008992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juberg-Hayward syndrome", "equivalent_identifiers": ["MONDO:0008992", "OMIM:216100", "orphanet:2319", "UMLS:C0796099", "MESH:C537690", "SNOMEDCT:721874001", "medgen:162906", "icd11.foundation:395922030"], "information_content": 100.0}
{"id": "HP:0003995", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the radial head", "equivalent_identifiers": ["HP:0003995", "UMLS:C4021696"], "information_content": 82.6}
{"id": "MONDO:0012680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 7", "equivalent_identifiers": ["MONDO:0012680", "DOID:0111116", "OMIM:611498", "UMLS:C1969092", "MESH:C566930", "medgen:369409"], "information_content": 100.0}
{"id": "MONDO:0011157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gomez-Lopez-Hernandez syndrome", "equivalent_identifiers": ["MONDO:0011157", "OMIM:601853", "orphanet:1532", "UMLS:C0795959", "MESH:C537285", "SNOMEDCT:722451006", "medgen:163201"], "information_content": 100.0}
{"id": "HP:0006899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusion of the cerebellar hemispheres", "equivalent_identifiers": ["HP:0006899", "UMLS:C1866131"], "information_content": 100.0}
{"id": "HP:0031912", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trigeminal anesthesia", "equivalent_identifiers": ["HP:0031912", "UMLS:C1866127", "MEDDRA:10088098", "MEDDRA:10088101"], "information_content": 100.0}
{"id": "MONDO:0011156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial intrahepatic cholestasis type 2", "equivalent_identifiers": ["MONDO:0011156", "DOID:0070222", "OMIM:601847", "orphanet:79304", "UMLS:C3489789", "SNOMEDCT:1155841005", "medgen:483742", "icd11.foundation:1168921980"], "information_content": 100.0}
{"id": "MONDO:0008195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paramyotonia congenita of Von Eulenburg", "equivalent_identifiers": ["MONDO:0008195", "DOID:0111538", "OMIM:168300", "orphanet:684", "UMLS:C0221055", "UMLS:C1868619", "MEDDRA:10088318", "NCIT:C122790", "NCIT:C122794", "SNOMEDCT:41574007", "medgen:113142", "icd11.foundation:1740060527", "ICD10:G71.19"], "information_content": 95.4}
{"id": "HP:0011809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paradoxical myotonia", "equivalent_identifiers": ["HP:0011809", "UMLS:C4023179"], "information_content": 100.0}
{"id": "MONDO:0010224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proud Syndrome", "equivalent_identifiers": ["MONDO:0010224", "DOID:0112151", "OMIM:300004", "orphanet:2508", "UMLS:C0796124", "MESH:C563110", "SNOMEDCT:763797003", "medgen:163217"], "information_content": 100.0}
{"id": "MONDO:0957997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes, deafness, developmental delay, and short stature syndrome", "equivalent_identifiers": ["MONDO:0957997", "OMIM:620651", "UMLS:C5882732", "medgen:1845412"], "information_content": 100.0}
{"id": "MONDO:0008395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ruvalcaba syndrome", "equivalent_identifiers": ["MONDO:0008395", "OMIM:180870", "orphanet:3121", "UMLS:C0265248", "MESH:C579395", "SNOMEDCT:3073006", "medgen:120520"], "information_content": 100.0}
{"id": "MONDO:0013670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia, high, with cataract and vitreoretinal degeneration", "equivalent_identifiers": ["MONDO:0013670", "OMIM:614292", "UMLS:C3280346", "medgen:481976"], "information_content": 100.0}
{"id": "HP:0200071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral vitreoretinal degeneration", "equivalent_identifiers": ["HP:0200071", "UMLS:C3280349"], "information_content": 100.0}
{"id": "MONDO:0859321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 3 deficiency, nuclear type 11", "equivalent_identifiers": ["MONDO:0859321", "OMIM:620137", "UMLS:C5774259", "medgen:1824032"], "information_content": 100.0}
{"id": "MONDO:0013014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, aggrecan type", "equivalent_identifiers": ["MONDO:0013014", "OMIM:612813", "orphanet:171866", "UMLS:C2748544", "MESH:C567558", "SNOMEDCT:719165004", "medgen:411237", "icd11.foundation:1133152894"], "information_content": 100.0}
{"id": "MONDO:0032775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with seizures and speech and walking impairment", "equivalent_identifiers": ["MONDO:0032775", "OMIM:618480", "UMLS:C5193119", "medgen:1672912"], "information_content": 100.0}
{"id": "HP:0034210", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal intraventricular hemorrhage", "equivalent_identifiers": ["HP:0034210", "UMLS:C5676797"], "information_content": 89.4}
{"id": "MONDO:0008310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progeria", "equivalent_identifiers": ["MONDO:0008310", "DOID:3911", "OMIM:176670", "orphanet:740", "UMLS:C0033300", "UMLS:C2750285", "MESH:C567661", "MEDDRA:10036794", "NCIT:C34951", "SNOMEDCT:238870004", "medgen:46123", "ICD10:E34.8"], "information_content": 100.0}
{"id": "MONDO:0009156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectrodactyly-polydactyly syndrome", "equivalent_identifiers": ["MONDO:0009156", "OMIM:225290", "orphanet:1892", "UMLS:C1857040", "MESH:C565601", "medgen:384042"], "information_content": 100.0}
{"id": "MONDO:0958022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy, familial partial, type 8", "equivalent_identifiers": ["MONDO:0958022", "OMIM:620679", "UMLS:C5882744", "medgen:1846436"], "information_content": 100.0}
{"id": "MONDO:0009093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatoleukodystrophy", "equivalent_identifiers": ["MONDO:0009093", "OMIM:221790", "orphanet:1659", "UMLS:C1857314", "MESH:C538220", "SNOMEDCT:733044009", "medgen:387794"], "information_content": 100.0}
{"id": "MONDO:0032781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypotonia, epilepsy, developmental delay, and digital anomalies", "equivalent_identifiers": ["MONDO:0032781", "OMIM:618494", "UMLS:C5193125", "medgen:1674629"], "information_content": 100.0}
{"id": "HP:0010654", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the falx cerebri", "equivalent_identifiers": ["HP:0010654", "UMLS:C4023756"], "information_content": 100.0}
{"id": "MONDO:0012098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 20", "equivalent_identifiers": ["MONDO:0012098", "DOID:0050971", "OMIM:608687", "orphanet:101110", "UMLS:C1837541", "MESH:C537199", "SNOMEDCT:718771009", "medgen:373352", "icd11.foundation:960716995"], "information_content": 100.0}
{"id": "MONDO:0009509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Landau-Kleffner syndrome", "equivalent_identifiers": ["MONDO:0009509", "DOID:2538", "OMIM:245570", "orphanet:98818", "EFO:1001010", "UMLS:C0282512", "UMLS:C1832814", "MESH:C563392", "MESH:D018887", "MEDDRA:10052075", "MEDDRA:10052083", "NCIT:C168598", "NCIT:C84806", "SNOMEDCT:230438007", "medgen:79465", "icd11.foundation:348544271"], "information_content": 95.4}
{"id": "MONDO:0010512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked, syndromic, Bain type", "equivalent_identifiers": ["MONDO:0010512", "DOID:0070538", "OMIM:300986", "orphanet:662198", "UMLS:C4310814", "NCIT:C183311", "medgen:934781"], "information_content": 100.0}
{"id": "MONDO:0009630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, isolated, with coloboma 4", "equivalent_identifiers": ["MONDO:0009630", "OMIM:251505", "UMLS:C1855053", "UMLS:C4255043", "MESH:C565378", "SNOMEDCT:715771008", "medgen:344410"], "information_content": 100.0}
{"id": "MONDO:0009106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diastematomyelia", "equivalent_identifiers": ["MONDO:0009106", "OMIM:222500", "orphanet:1671", "UMLS:C0011999", "MEDDRA:10012750", "NCIT:C98913", "SNOMEDCT:445308004", "SNOMEDCT:49351009", "medgen:3801", "icd11.foundation:2070601288"], "information_content": 100.0}
{"id": "MONDO:0060715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tumoral calcinosis, hyperphosphatemic, familial, 3", "equivalent_identifiers": ["MONDO:0060715", "OMIM:617994", "EFO:0009384", "UMLS:C4693864", "medgen:1638917"], "information_content": 100.0}
{"id": "MONDO:0859229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0859229", "OMIM:619761", "UMLS:C5676924", "medgen:1808634"], "information_content": 100.0}
{"id": "MONDO:0014645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BENTA disease", "equivalent_identifiers": ["MONDO:0014645", "OMIM:616452", "orphanet:464336", "UMLS:C4551967", "NCIT:C176791", "SNOMEDCT:1179300002", "medgen:1641265"], "information_content": 100.0}
{"id": "MONDO:0012397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly, coloboma, and anterior segment dysgenesis", "equivalent_identifiers": ["MONDO:0012397", "OMIM:610023", "UMLS:C1864901", "MESH:C566484", "medgen:355321"], "information_content": 100.0}
{"id": "MONDO:0011799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 33", "equivalent_identifiers": ["MONDO:0011799", "DOID:0110492", "OMIM:607239", "UMLS:C1846576", "MESH:C564602", "medgen:335464"], "information_content": 100.0}
{"id": "MONDO:0958035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 23", "equivalent_identifiers": ["MONDO:0958035", "OMIM:620686", "UMLS:C5882747", "medgen:1845723"], "information_content": 100.0}
{"id": "MONDO:0033563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 90", "equivalent_identifiers": ["MONDO:0033563", "DOID:0112147", "OMIM:619007", "UMLS:C5436588", "medgen:1733837"], "information_content": 100.0}
{"id": "MONDO:0014283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 56", "equivalent_identifiers": ["MONDO:0014283", "DOID:0110581", "OMIM:615629", "UMLS:C3810170", "medgen:816500"], "information_content": 100.0}
{"id": "MONDO:0008611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "humerus trochlea aplasia", "equivalent_identifiers": ["MONDO:0008611", "OMIM:191000", "orphanet:3383", "UMLS:C1860773", "MESH:C566022", "SNOMEDCT:732928005", "medgen:348185"], "information_content": 100.0}
{"id": "MONDO:0007272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hypercarotenemia and vitamin A deficiency", "equivalent_identifiers": ["MONDO:0007272", "OMIM:115300", "orphanet:199285", "UMLS:C2676023", "UMLS:C2676024", "UMLS:C4511672", "MESH:C567296", "SNOMEDCT:726079008", "medgen:393944"], "information_content": 95.4}
{"id": "HP:0430074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating beta-carotene concentration", "equivalent_identifiers": ["HP:0430074", "UMLS:C5936830"], "information_content": 100.0}
{"id": "MONDO:0100220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rajab interstitial lung disease with brain calcifications 2", "equivalent_identifiers": ["MONDO:0100220", "OMIM:619013", "UMLS:C5436603", "medgen:1770895"], "information_content": 100.0}
{"id": "MONDO:0012215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotilinopathy", "equivalent_identifiers": ["MONDO:0012215", "DOID:0080094", "OMIM:609200", "orphanet:266", "orphanet:268129", "orphanet:98911", "UMLS:C1834659", "UMLS:C1866785", "UMLS:C3714934", "UMLS:C4304304", "UMLS:C4707358", "MESH:C000598645", "MESH:C535906", "MESH:C563775", "SNOMEDCT:719985001", "SNOMEDCT:765092004", "SNOMEDCT:765196004", "medgen:811509"], "information_content": 100.0}
{"id": "MONDO:0012302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parietal foramina 3", "equivalent_identifiers": ["MONDO:0012302", "OMIM:609566", "UMLS:C1835980", "MESH:C563697", "medgen:322792"], "information_content": 100.0}
{"id": "MONDO:0010507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xq25 microduplication syndrome", "equivalent_identifiers": ["MONDO:0010507", "OMIM:300979", "orphanet:521258", "UMLS:C4311049", "UMLS:C5447842", "UMLS:C5677024", "NCIT:C177544", "SNOMEDCT:1229872004", "medgen:935016"], "information_content": 100.0}
{"id": "MONDO:0054801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrocytosis, familial, 6", "equivalent_identifiers": ["MONDO:0054801", "DOID:0111632", "OMIM:617980", "UMLS:C4693822", "medgen:1634191"], "information_content": 100.0}
{"id": "MONDO:0030770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of deglycosylation 2", "equivalent_identifiers": ["MONDO:0030770", "OMIM:619775", "UMLS:C5676931", "medgen:1809253"], "information_content": 100.0}
{"id": "MONDO:0010848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 5", "equivalent_identifiers": ["MONDO:0010848", "DOID:0050882", "OMIM:600224", "orphanet:98766", "UMLS:C0752123", "SNOMEDCT:719302009", "medgen:155705", "icd11.foundation:78905851"], "information_content": 100.0}
{"id": "MONDO:0013653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinson disease 18, autosomal dominant, susceptibility to", "equivalent_identifiers": ["MONDO:0013653", "OMIM:614251", "UMLS:C3280271", "medgen:481901"], "information_content": 100.0}
{"id": "MONDO:0011223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 4", "equivalent_identifiers": ["MONDO:0011223", "DOID:0060196", "OMIM:602433", "orphanet:357043", "UMLS:C1865409", "MESH:C566550", "SNOMEDCT:784341001", "medgen:355983"], "information_content": 100.0}
{"id": "HP:0006825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pallor of dorsal columns of the spinal cord", "equivalent_identifiers": ["HP:0006825", "UMLS:C1865416"], "information_content": 100.0}
{"id": "HP:0003405", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse axonal swelling", "equivalent_identifiers": ["HP:0003405", "UMLS:C1865417"], "information_content": 100.0}
{"id": "MONDO:0033481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 46", "equivalent_identifiers": ["MONDO:0033481", "DOID:0080288", "OMIM:617770", "orphanet:589522", "UMLS:C4540404", "SNOMEDCT:1279839002", "medgen:1624251"], "information_content": 100.0}
{"id": "MONDO:0032755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with or without variable brain abnormalities; NEDBA", "equivalent_identifiers": ["MONDO:0032755", "OMIM:618443", "UMLS:C5193102", "medgen:1675664"], "information_content": 100.0}
{"id": "MONDO:0859271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycosylphosphatidylinositol biosynthesis defect 25", "equivalent_identifiers": ["MONDO:0859271", "OMIM:619985", "UMLS:C5774191", "medgen:1823964"], "information_content": 100.0}
{"id": "MONDO:0013664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency", "equivalent_identifiers": ["MONDO:0013664", "DOID:0111773", "OMIM:614279", "orphanet:443087", "UMLS:C0342473", "UMLS:C1839840", "MESH:C564109", "SNOMEDCT:49013001", "medgen:333416"], "information_content": 100.0}
{"id": "MONDO:0013206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy, Fuchs endothelial, 6", "equivalent_identifiers": ["MONDO:0013206", "OMIM:613270", "UMLS:C2750448", "MESH:C567675", "medgen:442478"], "information_content": 100.0}
{"id": "MONDO:0032677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 9 with complex brainstem malformation", "equivalent_identifiers": ["MONDO:0032677", "DOID:0112228", "OMIM:618325", "orphanet:572013", "UMLS:C5193029", "medgen:1681109"], "information_content": 100.0}
{"id": "HP:0034405", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged tectum", "equivalent_identifiers": ["HP:0034405", "UMLS:C5826375"], "information_content": 100.0}
{"id": "MONDO:0032681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis", "equivalent_identifiers": ["MONDO:0032681", "OMIM:618331", "UMLS:C5193033", "medgen:1682670"], "information_content": 100.0}
{"id": "MONDO:0014278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 18", "equivalent_identifiers": ["MONDO:0014278", "DOID:0060017", "DOID:0111971", "OMIM:615615", "UMLS:C3810127", "UMLS:C3810128", "medgen:816457"], "information_content": 100.0}
{"id": "HP:0045080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CD3+ T cell proportion", "equivalent_identifiers": ["HP:0045080", "UMLS:C4477053"], "information_content": 100.0}
{"id": "MONDO:0013289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 4, autosomal recessive", "equivalent_identifiers": ["MONDO:0013289", "DOID:0060027", "OMIM:613502", "UMLS:C3150752", "medgen:462102"], "information_content": 100.0}
{"id": "MONDO:0009606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methemoglobinemia due to deficiency of methemoglobin reductase", "equivalent_identifiers": ["MONDO:0009606", "OMIM:250800", "UMLS:C0268193", "UMLS:C2749559", "UMLS:C2749560", "UMLS:C2749561", "UMLS:C2749562", "MESH:C537841", "MEDDRA:10075791", "SNOMEDCT:124184009", "SNOMEDCT:767497003", "medgen:75661"], "information_content": 100.0}
{"id": "HP:6000133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity", "equivalent_identifiers": ["HP:6000133", "UMLS:C5936987"], "information_content": 100.0}
{"id": "MONDO:0008812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AREDYLD syndrome", "equivalent_identifiers": ["MONDO:0008812", "OMIM:207780", "orphanet:1133", "UMLS:C0342280", "MESH:C537427", "SNOMEDCT:237610008", "medgen:87435", "icd11.foundation:2007371732"], "information_content": 100.0}
{"id": "HP:0004528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hypotrichosis", "equivalent_identifiers": ["HP:0004528", "UMLS:C4021653"], "information_content": 100.0}
{"id": "MONDO:0032762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 115", "equivalent_identifiers": ["MONDO:0032762", "DOID:0111643", "OMIM:618457", "UMLS:C5193108", "medgen:1681630"], "information_content": 100.0}
{"id": "MONDO:0012085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 3", "equivalent_identifiers": ["MONDO:0012085", "DOID:0110599", "OMIM:608644", "UMLS:C1837618", "MESH:C535278", "NCIT:C172392", "medgen:325210"], "information_content": 100.0}
{"id": "MONDO:0859273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver disease, severe congenital", "equivalent_identifiers": ["MONDO:0859273", "OMIM:619991", "UMLS:C5774195", "medgen:1823968"], "information_content": 100.0}
{"id": "HP:0025631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alpha-aminobutyric aciduria", "equivalent_identifiers": ["HP:0025631", "UMLS:C5139100"], "information_content": 100.0}
{"id": "HP:0006560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biliary hyperplasia", "equivalent_identifiers": ["HP:0006560", "UMLS:C3672440", "UMLS:C3686778"], "information_content": 100.0}
{"id": "HP:0031508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating thyroid hormone concentration", "equivalent_identifiers": ["HP:0031508", "UMLS:C4531077"], "information_content": 79.3}
{"id": "MONDO:0004766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "status asthmaticus", "equivalent_identifiers": ["MONDO:0004766", "DOID:9362", "EFO:0008590", "UMLS:C0038218", "MESH:D013224", "MEDDRA:10003562", "MEDDRA:10041961", "MEDDRA:10064823", "NCIT:C122577", "SNOMEDCT:708090002", "medgen:11584", "ICD9:493.91", "HP:0012653"], "information_content": 100.0}
{"id": "HP:0031142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hepatic echogenicity", "equivalent_identifiers": ["HP:0031142", "UMLS:C4477001"], "information_content": 92.8}
{"id": "MONDO:0009643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A", "equivalent_identifiers": ["MONDO:0009643", "DOID:0111164", "OMIM:252150", "orphanet:308386", "UMLS:C1854988", "MESH:C565372", "SNOMEDCT:1003367004", "medgen:381530"], "information_content": 100.0}
{"id": "HP:0003808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal muscle tone", "equivalent_identifiers": ["HP:0003808", "UMLS:C0852413", "MEDDRA:10028342"], "information_content": 64.4}
{"id": "HP:0003606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent urinary urothione", "equivalent_identifiers": ["HP:0003606", "UMLS:C4025591"], "information_content": 100.0}
{"id": "HP:0002932", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aldehyde oxidase deficiency", "equivalent_identifiers": ["HP:0002932", "UMLS:C1291266", "SNOMEDCT:124161002"], "information_content": 100.0}
{"id": "HP:0011943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary thiosulfate", "equivalent_identifiers": ["HP:0011943", "UMLS:C3148695"], "information_content": 100.0}
{"id": "HP:0034744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary S-sulfocysteine level", "equivalent_identifiers": ["HP:0034744", "UMLS:C5826633"], "information_content": 100.0}
{"id": "MONDO:0008696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome", "equivalent_identifiers": ["MONDO:0008696", "OMIM:200170", "orphanet:90301", "UMLS:C1860215", "MESH:C536000", "medgen:348051"], "information_content": 100.0}
{"id": "MONDO:0013008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to STIM1 deficiency", "equivalent_identifiers": ["MONDO:0013008", "DOID:0111970", "OMIM:612783", "orphanet:317430", "UMLS:C2748557", "MESH:C557827", "medgen:440575", "icd11.foundation:8644198"], "information_content": 100.0}
{"id": "MONDO:0014414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "STAT3-related early-onset multisystem autoimmune disease", "equivalent_identifiers": ["MONDO:0014414", "OMIM:615952", "orphanet:438159", "UMLS:C4014795", "NCIT:C157123", "SNOMEDCT:1197362009", "medgen:863232"], "information_content": 100.0}
{"id": "MONDO:0013780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 63", "equivalent_identifiers": ["MONDO:0013780", "DOID:0110385", "OMIM:614494", "UMLS:C3281002", "medgen:482632"], "information_content": 100.0}
{"id": "MONDO:0009094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermochondrocorneal dystrophy", "equivalent_identifiers": ["MONDO:0009094", "OMIM:221800", "orphanet:79149", "UMLS:C0432288", "MESH:C535375", "SNOMEDCT:254150007", "medgen:98151", "icd11.foundation:1305138145"], "information_content": 100.0}
{"id": "HP:0008039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subepithelial corneal opacities", "equivalent_identifiers": ["HP:0008039", "UMLS:C1857307"], "information_content": 100.0}
{"id": "MONDO:0009734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinemic hypoglycemia, familial, 1", "equivalent_identifiers": ["MONDO:0009734", "DOID:0070219", "OMIM:256450", "UMLS:C2931832", "SNOMEDCT:360339005", "medgen:419505"], "information_content": 92.8}
{"id": "MONDO:0958239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia/coloboma 11", "equivalent_identifiers": ["MONDO:0958239", "OMIM:620731", "UMLS:C5935584", "medgen:1856733"], "information_content": 100.0}
{"id": "MONDO:0011166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphedema-atrial septal defects-facial changes syndrome", "equivalent_identifiers": ["MONDO:0011166", "OMIM:601927", "orphanet:86915", "UMLS:C2677167", "UMLS:C2930926", "MESH:C535539", "MESH:C567398", "SNOMEDCT:721978002", "medgen:383042"], "information_content": 100.0}
{"id": "MONDO:0008445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mehes syndrome", "equivalent_identifiers": ["MONDO:0008445", "OMIM:182875", "orphanet:3038", "UMLS:C1866802", "UMLS:C2931119", "MESH:C536146", "MESH:C566677", "SNOMEDCT:716199000", "medgen:355803"], "information_content": 100.0}
{"id": "MONDO:0958233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bethlem myopathy 1B", "equivalent_identifiers": ["MONDO:0958233", "OMIM:620725", "UMLS:C5935580", "medgen:1859128"], "information_content": 100.0}
{"id": "MONDO:0014411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia 24, autosomal dominant", "equivalent_identifiers": ["MONDO:0014411", "OMIM:615946", "UMLS:C4014762", "medgen:863199"], "information_content": 100.0}
{"id": "MONDO:0013771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient infantile hypertriglyceridemia and hepatosteatosis", "equivalent_identifiers": ["MONDO:0013771", "OMIM:614480", "orphanet:300293", "UMLS:C3280953", "medgen:482583"], "information_content": 100.0}
{"id": "MONDO:0013281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG4-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013281", "DOID:0070262", "OMIM:613489", "orphanet:263501", "UMLS:C4303552", "SNOMEDCT:718751000", "medgen:929221"], "information_content": 100.0}
{"id": "MONDO:0958176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngeal muscular dystrophy 1", "equivalent_identifiers": ["MONDO:0958176", "OMIM:164300", "NCIT:C84942"], "information_content": 100.0}
{"id": "HP:0007838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive ptosis", "equivalent_identifiers": ["HP:0007838", "UMLS:C1834015"], "information_content": 100.0}
{"id": "MONDO:0007507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BASAN syndrome", "equivalent_identifiers": ["MONDO:0007507", "DOID:0080725", "OMIM:129200", "orphanet:1658", "UMLS:C0406707", "MESH:C537659", "SNOMEDCT:239011004", "medgen:140808", "icd11.foundation:1298640608", "KEGG.DISEASE:H02296"], "information_content": 100.0}
{"id": "HP:0034012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmoplantar hypohidrosis", "equivalent_identifiers": ["HP:0034012", "UMLS:C5194130"], "information_content": 100.0}
{"id": "MONDO:0859235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auditory neuropathy, autosomal dominant 3", "equivalent_identifiers": ["MONDO:0859235", "DOID:0112373", "OMIM:619832", "UMLS:C5676964", "medgen:1805371"], "information_content": 100.0}
{"id": "MONDO:0010260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, congenital, lower limb, X-linked", "equivalent_identifiers": ["MONDO:0010260", "OMIM:300158", "UMLS:C1846273", "UMLS:C3502439", "MESH:C564574", "medgen:339477"], "information_content": 100.0}
{"id": "MONDO:0032661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia", "equivalent_identifiers": ["MONDO:0032661", "OMIM:618292", "UMLS:C4749014", "medgen:1648291"], "information_content": 100.0}
{"id": "MONDO:0958231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism", "equivalent_identifiers": ["MONDO:0958231", "OMIM:620719", "orphanet:589515"], "information_content": 100.0}
{"id": "MONDO:0032658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly, acquired, with impaired intellectual development", "equivalent_identifiers": ["MONDO:0032658", "OMIM:618286", "UMLS:C4748993", "medgen:1648471"], "information_content": 100.0}
{"id": "MONDO:0030732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 69", "equivalent_identifiers": ["MONDO:0030732", "DOID:0070568", "OMIM:619826", "UMLS:C5676960", "medgen:1811285"], "information_content": 100.0}
{"id": "MONDO:0013000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porphyria due to ALA dehydratase deficiency", "equivalent_identifiers": ["MONDO:0013000", "OMIM:612740", "orphanet:100924", "UMLS:C0268328", "UMLS:C2748608", "MESH:C562618", "MEDDRA:10081567", "MEDDRA:10088202", "NCIT:C133887", "SNOMEDCT:64081000", "medgen:78659"], "information_content": 100.0}
{"id": "OMIM:614331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6", "equivalent_identifiers": ["OMIM:614331", "UMLS:C1860896", "MESH:C566039"]}
{"id": "MONDO:0013071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "equivalent_identifiers": ["MONDO:0013071", "DOID:0070249", "OMIM:612998", "UMLS:C2751807", "MESH:C567831", "medgen:414476"], "information_content": 100.0}
{"id": "MONDO:0859305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with eye movement abnormalities and ataxia", "equivalent_identifiers": ["MONDO:0859305", "DOID:0081275", "OMIM:620094", "UMLS:C5774241", "medgen:1824014"], "information_content": 100.0}
{"id": "MONDO:0054697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 11b with atopic dermatitis", "equivalent_identifiers": ["MONDO:0054697", "DOID:0111958", "OMIM:617638", "UMLS:C4539957", "NCIT:C176630", "medgen:1627819"], "information_content": 100.0}
{"id": "MONDO:0030480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 119", "equivalent_identifiers": ["MONDO:0030480", "OMIM:619615", "UMLS:C5562023", "medgen:1794233"], "information_content": 100.0}
{"id": "MONDO:0011627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autism, susceptibility to, 5", "equivalent_identifiers": ["MONDO:0011627", "OMIM:606053", "UMLS:C1853755", "medgen:340048"], "information_content": 100.0}
{"id": "MONDO:0030947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities", "equivalent_identifiers": ["MONDO:0030947", "OMIM:619173", "orphanet:610573", "UMLS:C5543020", "medgen:1781967"], "information_content": 100.0}
{"id": "MONDO:0014442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 14", "equivalent_identifiers": ["MONDO:0014442", "DOID:0110136", "OMIM:615991", "UMLS:C2673874", "MESH:C567141", "medgen:393033"], "information_content": 100.0}
{"id": "MONDO:0100252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tumoral calcinosis, hyperphosphatemic, familial, 1", "equivalent_identifiers": ["MONDO:0100252", "OMIM:211900", "UMLS:C4692564", "medgen:1642611"], "information_content": 100.0}
{"id": "HP:0005572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased renal tubular phosphate excretion", "equivalent_identifiers": ["HP:0005572", "UMLS:C1968899"], "information_content": 100.0}
{"id": "HP:0005571", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased renal tubular phosphate reabsorption", "equivalent_identifiers": ["HP:0005571", "UMLS:C1968910"], "information_content": 100.0}
{"id": "HP:0007799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjunctival whitish salt-like deposits", "equivalent_identifiers": ["HP:0007799", "UMLS:C1968901"], "information_content": 100.0}
{"id": "MONDO:0013760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome", "equivalent_identifiers": ["MONDO:0013760", "OMIM:614457", "orphanet:352333", "UMLS:C3280856", "SNOMEDCT:1208936008", "medgen:482486"], "information_content": 100.0}
{"id": "MONDO:0014436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 8", "equivalent_identifiers": ["MONDO:0014436", "DOID:0110130", "OMIM:615985", "UMLS:C1859566", "MESH:C565917", "medgen:347181"], "information_content": 100.0}
{"id": "MONDO:0007325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choreoathetosis, familial inverted", "equivalent_identifiers": ["MONDO:0007325", "OMIM:118750", "UMLS:C1861569", "MESH:C566127", "medgen:348393"], "information_content": 100.0}
{"id": "MONDO:0030937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 2 deficiency, nuclear type 3", "equivalent_identifiers": ["MONDO:0030937", "OMIM:619167", "UMLS:C5436934", "medgen:1751884"], "information_content": 100.0}
{"id": "MONDO:0033135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, demyelinating, type 1G", "equivalent_identifiers": ["MONDO:0033135", "DOID:0111560", "OMIM:618279", "orphanet:476394", "EFO:0010266", "UMLS:C4748940", "medgen:1648290"], "information_content": 100.0}
{"id": "MONDO:0012418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 62", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012418", "DOID:0110514", "OMIM:610143", "UMLS:C1857820", "MESH:C565719", "medgen:387916"], "information_content": 100.0}
{"id": "MONDO:0008655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vestibulocochlear dysfunction, progressive", "equivalent_identifiers": ["MONDO:0008655", "OMIM:193005", "UMLS:C2931176", "MESH:C536346", "medgen:419730"], "information_content": 100.0}
{"id": "MONDO:0010711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TARP syndrome", "equivalent_identifiers": ["MONDO:0010711", "DOID:0111780", "OMIM:311900", "orphanet:2886", "UMLS:C1839463", "MESH:C536942", "SNOMEDCT:725911008", "medgen:333324"], "information_content": 100.0}
{"id": "MONDO:0859300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal dominant 10", "equivalent_identifiers": ["MONDO:0859300", "DOID:0081399", "OMIM:620080", "UMLS:C5774234", "medgen:1824007"], "information_content": 100.0}
{"id": "MONDO:0014680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes simplex encephalitis, susceptibility to, 7", "equivalent_identifiers": ["MONDO:0014680", "OMIM:616532", "UMLS:C4225294", "medgen:901850"], "information_content": 100.0}
{"id": "HP:0031179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nuchal rigidity", "equivalent_identifiers": ["HP:0031179", "NCIT:C79694", "UMLS:C0025287", "MEDDRA:10027188", "MEDDRA:10027197", "MEDDRA:10027198", "MEDDRA:10027264", "MEDDRA:10027265", "SNOMEDCT:437986008", "SNOMEDCT:70784009", "MESH:D008580"], "information_content": 100.0}
{"id": "MONDO:0011714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome", "equivalent_identifiers": ["MONDO:0011714", "OMIM:606721", "UMLS:C3807567", "medgen:813897"], "information_content": 100.0}
{"id": "MONDO:0009605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methemoglobinemia type 4", "equivalent_identifiers": ["MONDO:0009605", "DOID:0112316", "OMIM:250790", "UMLS:C2673427", "UMLS:C4285231", "MESH:C567102", "medgen:925090"], "information_content": 100.0}
{"id": "HP:0031215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating dehydroepiandrosterone-sulfate concentration", "equivalent_identifiers": ["HP:0031215", "UMLS:C4531271"], "information_content": 100.0}
{"id": "MONDO:0013690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pitt-Hopkins-like syndrome 2", "equivalent_identifiers": ["MONDO:0013690", "DOID:0111332", "OMIM:614325", "UMLS:C3280479", "medgen:482109"], "information_content": 100.0}
{"id": "MONDO:0007120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia-absent patella syndrome", "equivalent_identifiers": ["MONDO:0007120", "OMIM:106220", "orphanet:1069", "UMLS:C1862868", "MESH:C566281", "SNOMEDCT:720467005", "medgen:400149"], "information_content": 100.0}
{"id": "MONDO:0011828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 2", "equivalent_identifiers": ["MONDO:0011828", "DOID:0081178", "OMIM:607417", "UMLS:C1843942", "MESH:C564404", "medgen:334541"], "information_content": 100.0}
{"id": "MONDO:0060533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, short stature, and limb abnormalities", "equivalent_identifiers": ["MONDO:0060533", "DOID:0081431", "OMIM:617604", "orphanet:572773", "UMLS:C4539873", "medgen:1613834"], "information_content": 100.0}
{"id": "MONDO:0007333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van der Woude syndrome 1", "equivalent_identifiers": ["MONDO:0007333", "OMIM:119300", "UMLS:C4551864", "medgen:1640616"], "information_content": 100.0}
{"id": "MONDO:0009104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Donnai-Barrow syndrome", "equivalent_identifiers": ["MONDO:0009104", "DOID:0090144", "OMIM:222448", "orphanet:2143", "UMLS:C1857277", "MESH:C536390", "SNOMEDCT:702418009", "medgen:347406"], "information_content": 100.0}
{"id": "HP:0005574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-acidotic proximal tubulopathy", "equivalent_identifiers": ["HP:0005574", "UMLS:C4025176"], "information_content": 100.0}
{"id": "MONDO:0011359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromelic frontonasal dysostosis", "equivalent_identifiers": ["MONDO:0011359", "DOID:0060342", "OMIM:603671", "orphanet:1827", "UMLS:C0796182", "UMLS:C1863616", "MESH:C535657", "MESH:C566345", "SNOMEDCT:715427008", "medgen:350933"], "information_content": 100.0}
{"id": "HP:6000295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Persistent falcine venous sinus", "equivalent_identifiers": ["HP:6000295", "UMLS:C4012746"], "information_content": 100.0}
{"id": "HP:0100629", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline facial cleft", "equivalent_identifiers": ["HP:0100629", "UMLS:C4022007"], "information_content": 90.9}
{"id": "HP:6000787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basilar artery fenestration", "equivalent_identifiers": ["HP:6000787", "UMLS:C5937515"], "information_content": 100.0}
{"id": "HP:0034014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tubulonodular pericallosal lipoma", "equivalent_identifiers": ["HP:0034014", "UMLS:C5558383"], "information_content": 100.0}
{"id": "MONDO:0011130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sebaceous gland hyperplasia, familial presenile", "equivalent_identifiers": ["MONDO:0011130", "OMIM:601700", "UMLS:C1866428", "MESH:C537530", "medgen:356529"], "information_content": 100.0}
{"id": "MONDO:0007887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leiomyoma of vulva and esophagus", "equivalent_identifiers": ["MONDO:0007887", "OMIM:150700", "UMLS:C1835488", "MESH:C537006", "medgen:320616"], "information_content": 100.0}
{"id": "HP:0005240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophageal obstruction", "equivalent_identifiers": ["HP:0005240", "NCIT:C78279", "UMLS:C0239296", "MEDDRA:10015387", "MEDDRA:10029956", "MEDDRA:10030178", "MEDDRA:10056101", "SNOMEDCT:405247003"], "information_content": 100.0}
{"id": "MONDO:0024552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "linear skin defects with multiple congenital anomalies 1", "equivalent_identifiers": ["MONDO:0024552", "DOID:0111808", "OMIM:309801", "UMLS:C0796070", "medgen:163210"], "information_content": 100.0}
{"id": "MONDO:0017989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "His bundle tachycardia", "equivalent_identifiers": ["MONDO:0017989", "orphanet:3283", "UMLS:C0039235", "MESH:D013613", "MEDDRA:10023246", "MEDDRA:10074640", "NCIT:C111646", "SNOMEDCT:233901002", "SNOMEDCT:251155001", "SNOMEDCT:419166005", "medgen:21066", "icd11.foundation:962827983", "HP:0011716"], "information_content": 100.0}
{"id": "MONDO:0014947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 46", "equivalent_identifiers": ["MONDO:0014947", "DOID:0080456", "OMIM:617162", "UMLS:C4310687", "NCIT:C177545", "medgen:934654"], "information_content": 100.0}
{"id": "MONDO:0032634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 31", "equivalent_identifiers": ["MONDO:0032634", "DOID:0112071", "OMIM:618251", "UMLS:C4748838", "medgen:1648395"], "information_content": 100.0}
{"id": "MONDO:0011823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental malformations-deafness-dystonia syndrome", "equivalent_identifiers": ["MONDO:0011823", "OMIM:607371", "orphanet:79107", "UMLS:C1846331", "UMLS:C5848323", "MESH:C537704", "medgen:1848671"], "information_content": 100.0}
{"id": "MONDO:0014558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "equivalent_identifiers": ["MONDO:0014558", "DOID:0070062", "OMIM:616268", "orphanet:457193", "UMLS:C4225396", "SNOMEDCT:1255319004", "medgen:903767"], "information_content": 100.0}
{"id": "HP:0010051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of the hallux", "equivalent_identifiers": ["HP:0010051", "UMLS:C4021344"], "information_content": 89.4}
{"id": "MONDO:0009892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chuvash polycythemia", "equivalent_identifiers": ["MONDO:0009892", "DOID:0060474", "OMIM:263400", "orphanet:238557", "UMLS:C1837915", "MESH:C563918", "medgen:332974", "ICD10:D75.1"], "information_content": 100.0}
{"id": "MONDO:0032628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 24", "equivalent_identifiers": ["MONDO:0032628", "DOID:0112079", "OMIM:618245", "UMLS:C4748803", "medgen:1648364"], "information_content": 100.0}
{"id": "MONDO:0013218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 5", "equivalent_identifiers": ["MONDO:0013218", "DOID:0111408", "OMIM:613310", "UMLS:C2750079", "MESH:C567648", "medgen:412872"], "information_content": 100.0}
{"id": "MONDO:0014336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency", "equivalent_identifiers": ["MONDO:0014336", "DOID:0070053", "OMIM:615761", "orphanet:404440", "UMLS:C3810406", "medgen:816736"], "information_content": 100.0}
{"id": "MONDO:0011566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abdominal obesity-metabolic syndrome quantitative trait locus 2", "equivalent_identifiers": ["MONDO:0011566", "OMIM:605572", "UMLS:C1854170", "medgen:344224"], "information_content": 100.0}
{"id": "MONDO:0014004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia calcification, idiopathic, 4", "equivalent_identifiers": ["MONDO:0014004", "OMIM:615007", "UMLS:C3554321", "medgen:767235"], "information_content": 100.0}
{"id": "MONDO:0033281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic kidney disease 5", "equivalent_identifiers": ["MONDO:0033281", "DOID:0080273", "OMIM:617610", "UMLS:C4539903", "medgen:1624679"], "information_content": 100.0}
{"id": "MONDO:0032796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgE recurrent infection syndrome 4, autosomal recessive", "equivalent_identifiers": ["MONDO:0032796", "DOID:0080596", "OMIM:618523", "UMLS:C5193141", "medgen:1673363"], "information_content": 100.0}
{"id": "MONDO:0010987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 8", "equivalent_identifiers": ["MONDO:0010987", "DOID:0110527", "OMIM:601072", "UMLS:C1832827", "UMLS:C1854414", "MESH:C563395", "MESH:C565341", "medgen:322046"], "information_content": 100.0}
{"id": "MONDO:0010441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CK syndrome", "equivalent_identifiers": ["MONDO:0010441", "DOID:0111898", "OMIM:300831", "orphanet:251383", "UMLS:C3151781", "SNOMEDCT:773329005", "medgen:463131"], "information_content": 100.0}
{"id": "MONDO:0014485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 1C", "equivalent_identifiers": ["MONDO:0014485", "DOID:0112334", "OMIM:616081", "UMLS:C4015160", "medgen:863597"], "information_content": 100.0}
{"id": "MONDO:0024777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 98 with autoinflammation, X-linked", "equivalent_identifiers": ["MONDO:0024777", "DOID:0061068", "OMIM:301078", "orphanet:675628", "UMLS:C5676883", "medgen:1805285"], "information_content": 100.0}
{"id": "HP:0012234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agranulocytosis", "equivalent_identifiers": ["HP:0012234", "NCIT:C107102", "UMLS:C0702094"], "information_content": 89.4}
{"id": "MONDO:0012761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 3q29 microduplication syndrome", "equivalent_identifiers": ["MONDO:0012761", "DOID:0060459", "OMIM:611936", "orphanet:251038", "UMLS:C2749873", "MESH:C567626", "SNOMEDCT:717973004", "medgen:440897"], "information_content": 100.0}
{"id": "HP:0006114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple palmar creases", "equivalent_identifiers": ["HP:0006114", "UMLS:C1861872"], "information_content": 100.0}
{"id": "MONDO:0010569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked complicated corpus callosum dysgenesis", "equivalent_identifiers": ["MONDO:0010569", "OMIM:304100", "orphanet:1497", "UMLS:C1839909", "MESH:C564115", "SNOMEDCT:1010630006", "medgen:374339", "icd11.foundation:1765391162"], "information_content": 100.0}
{"id": "MONDO:0012947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 4", "equivalent_identifiers": ["MONDO:0012947", "DOID:0070034", "OMIM:612581", "UMLS:C2675487", "MESH:C567240", "medgen:393397"], "information_content": 100.0}
{"id": "MONDO:0010315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-B+ severe combined immunodeficiency due to gamma chain deficiency", "equivalent_identifiers": ["MONDO:0010315", "DOID:0060013", "OMIM:300400", "orphanet:276", "EFO:0005555", "UMLS:C1279481", "MESH:D053632", "MEDDRA:10083916", "NCIT:C4682", "SNOMEDCT:203592006", "medgen:220906"], "information_content": 92.8}
{"id": "MONDO:0030055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 8", "equivalent_identifiers": ["MONDO:0030055", "DOID:0081427", "OMIM:618912", "UMLS:C5394466", "medgen:1714781"], "information_content": 100.0}
{"id": "HP:0033124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased serum sorbitol concentration", "equivalent_identifiers": ["HP:0033124", "UMLS:C5421627"], "information_content": 100.0}
{"id": "MONDO:0011917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 3, susceptibility to", "equivalent_identifiers": ["MONDO:0011917", "DOID:0112245", "OMIM:607832", "UMLS:C1842982", "medgen:335850"], "information_content": 100.0}
{"id": "MONDO:0007646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gamstorp-Wohlfart syndrome", "equivalent_identifiers": ["MONDO:0007646", "DOID:0050526", "OMIM:137200", "orphanet:324442", "UMLS:C5700127", "SNOMEDCT:711406009", "medgen:1814513", "icd11.foundation:1738677442"], "information_content": 100.0}
{"id": "MONDO:0019399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Isaac syndrome", "equivalent_identifiers": ["MONDO:0019399", "orphanet:84142", "UMLS:C0242287", "MESH:D020386", "MEDDRA:10072359", "MEDDRA:10072368", "MEDDRA:10072421", "MEDDRA:10090713", "NCIT:C202012", "SNOMEDCT:305719002", "SNOMEDCT:80138003", "medgen:116151", "icd11.foundation:646523932", "HP:0034351"], "information_content": 100.0}
{"id": "MONDO:0008765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 2", "equivalent_identifiers": ["MONDO:0008765", "DOID:0110016", "OMIM:204100", "UMLS:C1859844", "MESH:C536601", "medgen:348473"], "information_content": 100.0}
{"id": "MONDO:0859376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus, congenital, 5, susceptibility to", "equivalent_identifiers": ["MONDO:0859376", "OMIM:620241", "UMLS:C5830272", "medgen:1840908"], "information_content": 100.0}
{"id": "MONDO:0012484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prosopagnosia, hereditary", "equivalent_identifiers": ["MONDO:0012484", "OMIM:610382", "UMLS:C0751842", "UMLS:C2931455", "MESH:C537242", "medgen:419809"], "information_content": 100.0}
{"id": "MONDO:0030051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with autistic features and language delay, with or without seizures", "equivalent_identifiers": ["MONDO:0030051", "DOID:0081430", "OMIM:618906", "UMLS:C5394447", "medgen:1715081"], "information_content": 100.0}
{"id": "MONDO:0009571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 1", "equivalent_identifiers": ["MONDO:0009571", "DOID:0070115", "OMIM:249000", "UMLS:C3714506", "MESH:C536133", "medgen:811346", "ICD10:Q61.9"], "information_content": 100.0}
{"id": "MONDO:0100457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achalasia, familial esophageal", "equivalent_identifiers": ["MONDO:0100457", "OMIM:200400", "UMLS:C1860213", "MESH:C536011", "medgen:395436"], "information_content": 100.0}
{"id": "MONDO:0014490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ketoacidosis due to monocarboxylate transporter-1 deficiency", "equivalent_identifiers": ["MONDO:0014490", "OMIM:616095", "orphanet:438075", "UMLS:C4015186", "SNOMEDCT:1216941002", "medgen:863623"], "information_content": 100.0}
{"id": "MONDO:0013938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 7A (Zellweger)", "equivalent_identifiers": ["MONDO:0013938", "DOID:0080482", "OMIM:614872", "UMLS:C3539168", "UMLS:C3553950", "UMLS:C3888385", "NCIT:C155760", "medgen:854881"], "information_content": 100.0}
{"id": "HP:0034297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating tetracosanoic acid concentration", "equivalent_identifiers": ["HP:0034297", "UMLS:C5706153"], "information_content": 95.4}
{"id": "MONDO:0009560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculotrichoanal syndrome", "equivalent_identifiers": ["MONDO:0009560", "OMIM:248450", "orphanet:2717", "UMLS:C1855425", "MESH:C536022", "SNOMEDCT:703539006", "medgen:383680"], "information_content": 100.0}
{"id": "HP:6000101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneopalpebral synechiae", "equivalent_identifiers": ["HP:6000101", "UMLS:C5936965"], "information_content": 100.0}
{"id": "MONDO:0026771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 85, with or without midline brain defects", "equivalent_identifiers": ["MONDO:0026771", "DOID:0070380", "OMIM:301044", "UMLS:C5393312", "NCIT:C202548", "medgen:1708832"], "information_content": 100.0}
{"id": "MONDO:0010940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited susceptibility to asthma", "equivalent_identifiers": ["MONDO:0010940", "OMIM:600807", "UMLS:C1833269", "UMLS:C1833270", "UMLS:C1869116", "medgen:358271"], "information_content": 84.8}
{"id": "HP:0032933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Airway hyperresponsiveness", "equivalent_identifiers": ["HP:0032933", "UMLS:C0035228", "MESH:D012130"], "information_content": 100.0}
{"id": "MONDO:0060761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum", "equivalent_identifiers": ["MONDO:0060761", "OMIM:618090", "UMLS:C4748137", "medgen:1648487"], "information_content": 100.0}
{"id": "MONDO:0012355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 28", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0012355", "DOID:0110486", "OMIM:609823", "UMLS:C1853276", "MESH:C565218", "NCIT:C129023", "medgen:342839"], "information_content": 100.0}
{"id": "MONDO:0859518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 26, with chondrodysplasia", "equivalent_identifiers": ["MONDO:0859518", "DOID:0070403", "OMIM:620269", "UMLS:C5830312", "medgen:1840948"], "information_content": 100.0}
{"id": "MONDO:0010591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fingerprint body myopathy", "equivalent_identifiers": ["MONDO:0010591", "OMIM:305550", "orphanet:97232", "UMLS:C1844560", "MESH:C564425", "medgen:337026", "icd11.foundation:1251733531"], "information_content": 100.0}
{"id": "MONDO:0010322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 2", "equivalent_identifiers": ["MONDO:0010322", "DOID:0112016", "OMIM:300428", "UMLS:C0796207", "MESH:C563135", "medgen:162922"], "information_content": 100.0}
{"id": "MONDO:0014832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal recessive 53", "equivalent_identifiers": ["MONDO:0014832", "OMIM:616917", "orphanet:488635", "UMLS:C4310794", "medgen:934761"], "information_content": 100.0}
{"id": "HP:0011193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with focal spikes", "equivalent_identifiers": ["HP:0011193", "UMLS:C4023481"], "information_content": 87.2}
{"id": "MONDO:0010520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked Alport syndrome", "equivalent_identifiers": ["MONDO:0010520", "DOID:0110034", "OMIM:301050", "orphanet:88917", "UMLS:C1567742", "UMLS:C4746986", "SNOMEDCT:717768004", "medgen:1648433"], "information_content": 100.0}
{"id": "HP:6001026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced epidermal collagen IV alpha 5 chain staining", "equivalent_identifiers": ["HP:6001026", "UMLS:C5970359"], "information_content": 100.0}
{"id": "MONDO:0054852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 6", "equivalent_identifiers": ["MONDO:0054852", "DOID:0070525", "OMIM:618084", "UMLS:C4748093", "medgen:1648406"], "information_content": 100.0}
{"id": "MONDO:0008819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriosclerosis, severe juvenile", "equivalent_identifiers": ["MONDO:0008819", "OMIM:208060", "UMLS:C1859725", "MESH:C565941", "medgen:395330"], "information_content": 100.0}
{"id": "HP:0004589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplasia of second lumbar vertebra", "equivalent_identifiers": ["HP:0004589", "UMLS:C4025310"], "information_content": 100.0}
{"id": "HP:0008014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central fundal arteriolar microaneurysms", "equivalent_identifiers": ["HP:0008014", "UMLS:C4024755"], "information_content": 100.0}
{"id": "MONDO:0013932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 5A (Zellweger)", "equivalent_identifiers": ["MONDO:0013932", "DOID:0080480", "OMIM:614866", "UMLS:C3539010", "UMLS:C3553940", "UMLS:C3553941", "UMLS:C3553942", "NCIT:C155756", "medgen:766854"], "information_content": 100.0}
{"id": "MONDO:0008573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tibial torsion, bilateral medial", "equivalent_identifiers": ["MONDO:0008573", "OMIM:188800", "UMLS:C1861097", "MESH:C566045", "medgen:348785"], "information_content": 100.0}
{"id": "MONDO:0007902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lichen planus, familial", "inheritance": "Autosomal dominant inheritance", "equivalent_identifiers": ["MONDO:0007902", "OMIM:151620", "UMLS:C1835402", "MESH:C563624", "medgen:372036"], "information_content": 100.0}
{"id": "MONDO:0014469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 103", "equivalent_identifiers": ["MONDO:0014469", "DOID:0110464", "OMIM:616042", "UMLS:C4015050", "medgen:863487"], "information_content": 100.0}
{"id": "MONDO:0030300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, dilated, 2D", "equivalent_identifiers": ["MONDO:0030300", "DOID:0081160", "OMIM:619371", "UMLS:C5543535", "medgen:1782612"], "information_content": 100.0}
{"id": "HP:0033997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perinuclear cardiomyocyte vacuolization", "equivalent_identifiers": ["HP:0033997", "UMLS:C5558373"], "information_content": 100.0}
{"id": "MONDO:0012206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia with metatarsal shortening", "equivalent_identifiers": ["MONDO:0012206", "OMIM:609162", "orphanet:137678", "UMLS:C1836683", "MESH:C535766", "SNOMEDCT:720826006", "medgen:324580"], "information_content": 100.0}
{"id": "MONDO:0014749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis, selective, 7", "equivalent_identifiers": ["MONDO:0014749", "OMIM:616724", "UMLS:C4225231", "medgen:899184"], "information_content": 100.0}
{"id": "MONDO:0007309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1A", "equivalent_identifiers": ["MONDO:0007309", "DOID:0110148", "OMIM:118220", "orphanet:101081", "UMLS:C0270911", "NCIT:C75468", "SNOMEDCT:40632002", "medgen:75727"], "information_content": 92.8}
{"id": "MONDO:0957204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation with pulmonary and cutaneous vasculitis", "equivalent_identifiers": ["MONDO:0957204", "OMIM:620296", "UMLS:C5830371", "medgen:1841007"], "information_content": 100.0}
{"id": "MONDO:0032877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures", "equivalent_identifiers": ["MONDO:0032877", "OMIM:618709", "EFO:0010661", "UMLS:C5231470", "medgen:1684757"], "information_content": 100.0}
{"id": "MONDO:0011436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive distal spinal muscular atrophy 1", "equivalent_identifiers": ["MONDO:0011436", "DOID:0111064", "OMIM:604320", "orphanet:98920", "UMLS:C1858517", "MESH:C536880", "SNOMEDCT:711483003", "medgen:388083"], "information_content": 100.0}
{"id": "HP:0005946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventilator dependence with inability to wean", "equivalent_identifiers": ["HP:0005946", "UMLS:C4025097"], "information_content": 100.0}
{"id": "HP:0009109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Denervation of the diaphragm", "equivalent_identifiers": ["HP:0009109", "UMLS:C1858529"], "information_content": 100.0}
{"id": "MONDO:0013481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "del(13q14)", "equivalent_identifiers": ["MONDO:0013481", "DOID:0060391", "OMIM:613884", "orphanet:1587", "UMLS:C3151302", "NCIT:C36421", "medgen:462652"], "information_content": 70.5}
{"id": "MONDO:0014752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrotic syndrome, type 11", "equivalent_identifiers": ["MONDO:0014752", "DOID:0080385", "OMIM:616730", "UMLS:C4225228", "medgen:898622"], "information_content": 100.0}
{"id": "MONDO:0859526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 109 with lymphoproliferation", "equivalent_identifiers": ["MONDO:0859526", "DOID:0061078", "OMIM:620282", "orphanet:664726", "UMLS:C5830346", "medgen:1840982"], "information_content": 100.0}
{"id": "MONDO:0012490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod synaptic disorder, congenital nonprogressive", "equivalent_identifiers": ["MONDO:0012490", "OMIM:610427", "UMLS:C4041558", "medgen:874422"], "information_content": 100.0}
{"id": "MONDO:0014477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 26", "equivalent_identifiers": ["MONDO:0014477", "DOID:0080461", "OMIM:616056", "UMLS:C4015119", "NCIT:C175047", "medgen:863556"], "information_content": 100.0}
{"id": "MONDO:0030296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 4", "equivalent_identifiers": ["MONDO:0030296", "OMIM:619365", "UMLS:C5543519", "medgen:1783600"], "information_content": 100.0}
{"id": "MONDO:0013963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 93", "equivalent_identifiers": ["MONDO:0013963", "DOID:0110537", "OMIM:614899", "UMLS:C3888355", "medgen:854875"], "information_content": 100.0}
{"id": "MONDO:0009542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lysine malabsorption syndrome", "equivalent_identifiers": ["MONDO:0009542", "OMIM:247950", "UMLS:C0796023", "MESH:C563080", "medgen:167097"], "information_content": 100.0}
{"id": "HP:0008272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal tubular lysine transport defect", "equivalent_identifiers": ["HP:0008272", "UMLS:C4024714"], "information_content": 100.0}
{"id": "MONDO:0009260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM1 gangliosidosis type 1", "equivalent_identifiers": ["MONDO:0009260", "DOID:0080502", "OMIM:230500", "orphanet:79255", "UMLS:C0268271", "UMLS:C1968748", "MESH:C566895", "SNOMEDCT:238026007", "medgen:75665", "icd11.foundation:466200180"], "information_content": 100.0}
{"id": "HP:0030498", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular thickening", "equivalent_identifiers": ["HP:0030498", "UMLS:C4072986", "MEDDRA:10084571"], "information_content": 89.4}
{"id": "MONDO:0010605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemopoietic proliferation", "equivalent_identifiers": ["MONDO:0010605", "OMIM:306930", "UMLS:C1844026", "medgen:336101"], "information_content": 100.0}
{"id": "MONDO:0044302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder", "equivalent_identifiers": ["MONDO:0044302", "DOID:0112247", "OMIM:617360", "orphanet:646278", "UMLS:C4479246", "medgen:1385307"], "information_content": 100.0}
{"id": "OMIM:615577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMMUNODEFICIENCY, COMMON VARIABLE, 10", "equivalent_identifiers": ["OMIM:615577", "UMLS:C3809991"]}
{"id": "MONDO:0013845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auriculocondylar syndrome 2", "equivalent_identifiers": ["MONDO:0013845", "OMIM:614669", "UMLS:C3553404", "medgen:766318"], "information_content": 100.0}
{"id": "MONDO:0013348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 15", "equivalent_identifiers": ["MONDO:0013348", "DOID:0111021", "OMIM:613660", "UMLS:C3150912", "UMLS:C5829994", "medgen:462262"], "information_content": 100.0}
{"id": "MONDO:0009984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-adult onset retinitis pigmentosa", "inheritance": "Autosomal recessive inheritance", "equivalent_identifiers": ["MONDO:0009984", "DOID:0110421", "OMIM:268025", "UMLS:C1849400", "MESH:C564840", "medgen:340316"], "information_content": 100.0}
{"id": "MONDO:0012323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal acantholytic epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0012323", "OMIM:609638", "orphanet:158687", "UMLS:C1864826", "MESH:C535493", "SNOMEDCT:1230026002", "medgen:400622"], "information_content": 100.0}
{"id": "MONDO:0044308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bardet-biedl syndrome 21", "equivalent_identifiers": ["MONDO:0044308", "DOID:0081010", "OMIM:617406", "UMLS:C4319932", "medgen:1374358"], "information_content": 100.0}
{"id": "HP:0030483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced amplitude of dark-adapted bright flash electroretinogram a-wave", "equivalent_identifiers": ["HP:0030483", "UMLS:C4072973"], "information_content": 100.0}
{"id": "MONDO:0032880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 82", "equivalent_identifiers": ["MONDO:0032880", "DOID:0080715", "OMIM:618721", "UMLS:C5231473", "medgen:1684694"], "information_content": 100.0}
{"id": "MONDO:0007877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal adductor paralysis", "equivalent_identifiers": ["MONDO:0007877", "OMIM:150270", "UMLS:C0396060", "MESH:C562861", "SNOMEDCT:232443006", "medgen:140759"], "information_content": 100.0}
{"id": "MONDO:0044311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachycephaly, trichomegaly, and developmental delay", "equivalent_identifiers": ["MONDO:0044311", "DOID:0070415", "OMIM:617412", "UMLS:C4479431", "medgen:1374289"], "information_content": 100.0}
{"id": "MONDO:0011431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MASS syndrome", "equivalent_identifiers": ["MONDO:0011431", "OMIM:604308", "UMLS:C1858556", "MESH:C536030", "medgen:346932"], "information_content": 100.0}
{"id": "MONDO:0013356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesicoureteral reflux 3", "equivalent_identifiers": ["MONDO:0013356", "OMIM:613674", "UMLS:C3150927", "medgen:462277"], "information_content": 100.0}
{"id": "HP:0012572", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureter duplex", "equivalent_identifiers": ["HP:0012572", "UMLS:C4551489"], "information_content": 100.0}
{"id": "HP:0033741", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Grade IV vesicoureteral reflux", "equivalent_identifiers": ["HP:0033741", "NCIT:C98664", "UMLS:C3274339"], "information_content": 100.0}
{"id": "MONDO:0011325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group F", "equivalent_identifiers": ["MONDO:0011325", "DOID:0111088", "OMIM:603467", "EFO:0009045", "UMLS:C3469526", "NCIT:C125707", "medgen:854016"], "information_content": 92.8}
{"id": "MONDO:0004846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placental abruption", "equivalent_identifiers": ["MONDO:0004846", "DOID:9667", "EFO:1001754", "UMLS:C0000821", "UMLS:C0000832", "MESH:D000033", "MESH:D000037", "MEDDRA:10000242", "MEDDRA:10000267", "MEDDRA:10036608", "MEDDRA:10036610", "MEDDRA:10043504", "MEDDRA:10043505", "MEDDRA:10053595", "NCIT:C112857", "NCIT:C26685", "SNOMEDCT:405736009", "SNOMEDCT:415105001", "SNOMEDCT:54048003", "medgen:49", "ICD10:O20.0", "ICD9:640.0", "HP:0011419"], "information_content": 100.0}
{"id": "MONDO:0800047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrothrombocytopenia, isolated, 1, autosomal dominant", "equivalent_identifiers": ["MONDO:0800047", "DOID:0090102", "OMIM:613112", "UMLS:C2751259", "UMLS:C5676892", "MESH:C567747", "medgen:1811721"], "information_content": 100.0}
{"id": "MONDO:0007131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anonychia with flexural pigmentation", "equivalent_identifiers": ["MONDO:0007131", "OMIM:106750", "orphanet:69125", "UMLS:C1862844", "MESH:C566278", "medgen:400144"], "information_content": 100.0}
{"id": "HP:0007471", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axillary and groin hyperpigmentation and hypopigmentation", "equivalent_identifiers": ["HP:0007471", "UMLS:C4024866"], "information_content": 100.0}
{"id": "MONDO:0012714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset myopathy with fatal cardiomyopathy", "equivalent_identifiers": ["MONDO:0012714", "DOID:0081341", "OMIM:611705", "orphanet:289377", "UMLS:C2673677", "MESH:C567129", "SNOMEDCT:702343002", "medgen:435983"], "information_content": 100.0}
{"id": "HP:0011717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrioventricular reentrant tachycardia", "equivalent_identifiers": ["HP:0011717", "UMLS:C0340477", "UMLS:C4023220", "MEDDRA:10003859", "SNOMEDCT:233897008"], "information_content": 92.8}
{"id": "MONDO:0019311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wooly hair nevus", "equivalent_identifiers": ["MONDO:0019311", "orphanet:79414", "UMLS:C0343114", "SNOMEDCT:239124001", "medgen:575391"], "information_content": 100.0}
{"id": "HP:0011365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy hypopigmentation of hair", "equivalent_identifiers": ["HP:0011365", "UMLS:C4023395"], "information_content": 92.8}
{"id": "HP:0030164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jaw claudication", "equivalent_identifiers": ["HP:0030164", "UMLS:C0239064", "SNOMEDCT:43922008"], "information_content": 100.0}
{"id": "HP:0033123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating osteopontin level", "equivalent_identifiers": ["HP:0033123", "UMLS:C5421626"], "information_content": 100.0}
{"id": "HP:6000502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating calprotectin concentration", "equivalent_identifiers": ["HP:6000502", "UMLS:C5937267"], "information_content": 100.0}
{"id": "HP:0002103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pleura morphology", "equivalent_identifiers": ["HP:0002103", "UMLS:C4025726"], "information_content": 76.0}
{"id": "HP:0011658", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis", "equivalent_identifiers": ["HP:0011658", "UMLS:C1956413", "UMLS:C4023241"], "information_content": 100.0}
{"id": "MONDO:0043310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amaurosis fugax", "equivalent_identifiers": ["MONDO:0043310", "UMLS:C0149793", "MESH:D020757", "MEDDRA:10001903", "MEDDRA:10043211", "MEDDRA:10051034", "NCIT:C84550", "SNOMEDCT:88032003", "medgen:57702", "icd11.foundation:691084626", "HP:0100576"], "information_content": 100.0}
{"id": "HP:0100809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scalp Pain", "equivalent_identifiers": ["HP:0100809", "NCIT:C79716", "UMLS:C0151206", "UMLS:C0240940", "UMLS:C4073183", "MEDDRA:10039521", "MEDDRA:10049120", "SNOMEDCT:75851004"], "information_content": 100.0}
{"id": "MONDO:0016045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetragametic chimerism", "equivalent_identifiers": ["MONDO:0016045", "orphanet:199310", "UMLS:C0432480", "SNOMEDCT:205718006", "medgen:609542"], "information_content": 100.0}
{"id": "HP:0000035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal testis morphology", "equivalent_identifiers": ["HP:0000035", "UMLS:C0266423", "UMLS:C4759656", "SNOMEDCT:55631001"], "information_content": 70.1}
{"id": "HP:0000045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal scrotum morphology", "equivalent_identifiers": ["HP:0000045", "UMLS:C4025895"], "information_content": 78.3}
{"id": "HP:0010970", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blood group antigen abnormality", "equivalent_identifiers": ["HP:0010970", "UMLS:C4023620"], "information_content": 95.4}
{"id": "HP:0010987", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cellular immune system morphology", "equivalent_identifiers": ["HP:0010987", "UMLS:C4023612"], "information_content": 55.7}
{"id": "HP:0012145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of multiple cell lineages in the bone marrow", "equivalent_identifiers": ["HP:0012145", "UMLS:C4023024"], "information_content": 78.8}
{"id": "HP:0031845", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal libido", "equivalent_identifiers": ["HP:0031845", "UMLS:C4703571"], "information_content": 87.2}
{"id": "HP:0004337", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of amino acid metabolism", "equivalent_identifiers": ["HP:0004337", "UMLS:C1328440", "MEDDRA:10063262"], "information_content": 95.4}
{"id": "HP:0004374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemiplegia/hemiparesis", "equivalent_identifiers": ["HP:0004374", "UMLS:C0375206"], "information_content": 83.1}
{"id": "HP:0033724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral venous sinus thrombosis", "equivalent_identifiers": ["HP:0033724", "UMLS:C0338573", "MEDDRA:10008209", "MEDDRA:10022776", "MEDDRA:10061251", "MEDDRA:10083037", "SNOMEDCT:192759008"], "information_content": 100.0}
{"id": "MONDO:0100249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX testicular disorder of sex development", "equivalent_identifiers": ["MONDO:0100249", "DOID:0111760", "orphanet:393", "UMLS:C2936419", "MESH:D058531", "MEDDRA:10087158", "NCIT:C127170", "SNOMEDCT:890089005", "medgen:424734", "icd11.foundation:1357942532"], "information_content": 89.4}
{"id": "MONDO:0018334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic hiccup", "equivalent_identifiers": ["MONDO:0018334", "orphanet:396", "UMLS:C0744898", "SNOMEDCT:716771000", "medgen:900733", "icd11.foundation:1300687612"], "information_content": 100.0}
{"id": "HP:0001679", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal aortic morphology", "equivalent_identifiers": ["HP:0001679", "UMLS:C4025756"], "information_content": 64.5}
{"id": "MONDO:0016479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silver-Russell syndrome due to 7p11.2p13 microduplication", "equivalent_identifiers": ["MONDO:0016479", "orphanet:231137", "UMLS:C5679840", "medgen:1826059"], "information_content": 100.0}
{"id": "MONDO:0016562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PSP-PAGF", "equivalent_identifiers": ["MONDO:0016562", "orphanet:240094", "UMLS:C5679851", "medgen:1843032"], "information_content": 100.0}
{"id": "HP:0031434", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal prosody", "equivalent_identifiers": ["HP:0031434", "UMLS:C5826362"], "information_content": 85.5}
{"id": "HP:0031937", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tachylalia", "equivalent_identifiers": ["HP:0031937", "UMLS:C4732764", "MEDDRA:10086205"], "information_content": 100.0}
{"id": "MONDO:0015367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charlie M syndrome", "equivalent_identifiers": ["MONDO:0015367", "orphanet:1406", "UMLS:C4518555", "SNOMEDCT:733034007", "medgen:1379887", "icd11.foundation:1284734481"], "information_content": 100.0}
{"id": "MONDO:0017135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "olivopontocerebellar atrophy-deafness syndrome", "equivalent_identifiers": ["MONDO:0017135", "orphanet:2732", "UMLS:C4275113", "SNOMEDCT:715483009", "medgen:905095"], "information_content": 100.0}
{"id": "MONDO:0006032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystitis", "equivalent_identifiers": ["MONDO:0006032", "DOID:1679", "EFO:1000025", "UMLS:C0010692", "MESH:D003556", "MEDDRA:10011754", "MEDDRA:10011781", "MEDDRA:10011798", "MEDDRA:10011802", "MEDDRA:10063059", "NCIT:C26738", "SNOMEDCT:38822007", "medgen:8227", "icd11.foundation:1181120673", "ICD10:N30", "ICD9:595", "HP:0100577"], "information_content": 80.9}
{"id": "MONDO:0016043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated cleft lip", "equivalent_identifiers": ["MONDO:0016043", "orphanet:199302", "medgen:40327", "icd11.foundation:172183323"], "information_content": 92.8}
{"id": "HP:0031469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low self-esteem", "equivalent_identifiers": ["HP:0031469", "UMLS:C0679136", "UMLS:C1821293", "MEDDRA:10050280", "SNOMEDCT:286647002"], "information_content": 100.0}
{"id": "HP:0040115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal Eustachian tube morphology", "equivalent_identifiers": ["HP:0040115", "UMLS:C0262475", "MEDDRA:10010459", "MEDDRA:10062331", "SNOMEDCT:204250005"], "information_content": 89.4}
{"id": "HP:0011446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of mental function", "equivalent_identifiers": ["HP:0011446", "UMLS:C4023352"], "information_content": 49.8}
{"id": "HP:0001211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fingertip morphology", "equivalent_identifiers": ["HP:0001211", "UMLS:C4025796"], "information_content": 90.9}
{"id": "HP:0000014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the bladder", "equivalent_identifiers": ["HP:0000014", "UMLS:C0149632"], "information_content": 69.5}
{"id": "HP:0002087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the upper respiratory tract", "equivalent_identifiers": ["HP:0002087", "UMLS:C4025727"], "information_content": 63.8}
{"id": "HP:0003111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood ion concentration", "equivalent_identifiers": ["HP:0003111", "NCIT:C27120", "UMLS:C1704431", "UMLS:C4025654", "MEDDRA:10014417", "MEDDRA:10087606", "MEDDRA:10087608", "SNOMEDCT:237840007"], "information_content": 66.3}
{"id": "HP:0004386", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrointestinal inflammation", "equivalent_identifiers": ["HP:0004386", "UMLS:C1535950", "MEDDRA:10064147"], "information_content": 79.9}
{"id": "HP:0010476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the bladder", "equivalent_identifiers": ["HP:0010476", "UMLS:C4023813"], "information_content": 90.9}
{"id": "MONDO:0019308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "junctional epidermolysis bullosa inversa", "equivalent_identifiers": ["MONDO:0019308", "orphanet:79405", "UMLS:C2673609", "MESH:C535958", "medgen:382142", "icd11.foundation:1191822552"], "information_content": 100.0}
{"id": "HP:0012252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal respiratory system morphology", "equivalent_identifiers": ["HP:0012252", "UMLS:C4022992"], "information_content": 55.1}
{"id": "HP:0031464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genital blistering", "equivalent_identifiers": ["HP:0031464", "UMLS:C3854369", "MEDDRA:10074995"], "information_content": 100.0}
{"id": "MONDO:0018310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Langerhans cell histiocytosis", "equivalent_identifiers": ["MONDO:0018310", "DOID:2571", "OMIM:604856", "orphanet:389", "EFO:1000318", "UMLS:C0019621", "UMLS:C0432547", "UMLS:C0432548", "UMLS:C0432549", "UMLS:C0432550", "UMLS:C0432551", "UMLS:C0432552", "UMLS:C0432553", "UMLS:C0432554", "UMLS:C5779774", "MESH:C538636", "MESH:D006646", "MEDDRA:10023688", "MEDDRA:10024266", "MEDDRA:10024267", "MEDDRA:10024268", "MEDDRA:10024269", "MEDDRA:10024270", "MEDDRA:10024271", "MEDDRA:10024272", "MEDDRA:10024273", "MEDDRA:10053133", "MEDDRA:10069698", "NCIT:C3107", "SNOMEDCT:110450007", "SNOMEDCT:65399007", "medgen:5568", "icd11.foundation:1388720498", "icd11.foundation:216625985", "ICD10:C96.0", "ICD10:C96.6", "ICD9:202.5"], "information_content": 80.2}
{"id": "MONDO:0020520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult pulmonary Langerhans cell histiocytosis", "equivalent_identifiers": ["MONDO:0020520", "UMLS:C1455705", "UMLS:C3161104", "MEDDRA:10020119", "NCIT:C142833", "SNOMEDCT:28122003", "SNOMEDCT:328611000119105", "SNOMEDCT:417152008", "medgen:853967", "icd11.foundation:792398738", "HP:0034769"], "information_content": 100.0}
{"id": "HP:0012719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Functional abnormality of the gastrointestinal tract", "equivalent_identifiers": ["HP:0012719", "UMLS:C4022755"], "information_content": 69.7}
{"id": "HP:0034754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilious emesis", "equivalent_identifiers": ["HP:0034754", "UMLS:C0232599", "MEDDRA:10004682", "SNOMEDCT:71419002"], "information_content": 100.0}
{"id": "HP:6000224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed passage of meconium", "equivalent_identifiers": ["HP:6000224", "UMLS:C0349500", "MEDDRA:10088625", "SNOMEDCT:276713004"], "information_content": 100.0}
{"id": "MONDO:0019309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset junctional epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0019309", "orphanet:79406", "UMLS:C4304724", "SNOMEDCT:719432000", "medgen:930393"], "information_content": 100.0}
{"id": "MONDO:0016480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silver-Russell syndrome due to an imprinting defect of 11p15", "equivalent_identifiers": ["MONDO:0016480", "orphanet:231140", "UMLS:C5680916", "medgen:1826102"], "information_content": 100.0}
{"id": "HP:0100555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetric growth", "equivalent_identifiers": ["HP:0100555", "UMLS:C4022025"], "information_content": 83.6}
{"id": "MONDO:0016482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11", "equivalent_identifiers": ["MONDO:0016482", "orphanet:231147", "UMLS:C5679841", "medgen:1843295"], "information_content": 100.0}
{"id": "HP:0011354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized abnormality of skin", "equivalent_identifiers": ["HP:0011354", "UMLS:C4021157"], "information_content": 64.5}
{"id": "HP:0032676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic cutaneous wound", "equivalent_identifiers": ["HP:0032676", "UMLS:C5397688"], "information_content": 100.0}
{"id": "HP:0100508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of vitamin metabolism", "equivalent_identifiers": ["HP:0100508", "UMLS:C4022036"], "information_content": 69.7}
{"id": "MONDO:0019310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive dystrophic epidermolysis bullosa inversa", "equivalent_identifiers": ["MONDO:0019310", "orphanet:79409", "UMLS:C1275113", "SNOMEDCT:403809003", "medgen:698413", "icd11.foundation:495465277"], "information_content": 100.0}
{"id": "HP:0025416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal stricture", "equivalent_identifiers": ["HP:0025416", "NCIT:C36064", "UMLS:C0269208", "MEDDRA:10053496", "SNOMEDCT:37914004"], "information_content": 100.0}
{"id": "HP:0008065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the skin", "equivalent_identifiers": ["HP:0008065", "UMLS:C4024737"], "information_content": 79.6}
{"id": "MONDO:0016481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silver-Russell syndrome due to 11p15 microduplication", "equivalent_identifiers": ["MONDO:0016481", "orphanet:231144", "UMLS:C5680917", "medgen:1826103"], "information_content": 100.0}
{"id": "HP:0000174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal palate morphology", "equivalent_identifiers": ["HP:0000174", "UMLS:C4021815"], "information_content": 69.4}
{"id": "HP:0008056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia affecting the eye", "equivalent_identifiers": ["HP:0008056", "UMLS:C4024745"], "information_content": 74.6}
{"id": "MONDO:0018306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Griscelli syndrome", "equivalent_identifiers": ["MONDO:0018306", "DOID:0060831", "OMIM.PS:214450", "orphanet:381", "UMLS:C0398794", "MEDDRA:10081517", "SNOMEDCT:37548006", "medgen:585090"], "information_content": 90.9}
{"id": "HP:0006292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of dental eruption", "equivalent_identifiers": ["HP:0006292", "UMLS:C0012767", "UMLS:C1859363", "UMLS:C3874458", "SNOMEDCT:1086101000119107", "SNOMEDCT:234949000"], "information_content": 81.3}
{"id": "HP:0011044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal number of permanent teeth", "equivalent_identifiers": ["HP:0011044", "UMLS:C4023573"], "information_content": 95.4}
{"id": "MONDO:0017134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odonto-onycho dysplasia-alopecia syndrome", "equivalent_identifiers": ["MONDO:0017134", "orphanet:2722", "UMLS:C4706599", "SNOMEDCT:763828007", "medgen:1648007"], "information_content": 100.0}
{"id": "MONDO:0008118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontomatosis-aortae esophagus stenosis syndrome", "equivalent_identifiers": ["MONDO:0008118", "OMIM:164330", "orphanet:2724", "UMLS:C1834013", "MESH:C537740", "SNOMEDCT:716180009", "medgen:320249"], "information_content": 100.0}
{"id": "HP:0002068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neuromuscular dysphagia", "equivalent_identifiers": ["HP:0002068", "UMLS:C4025729"], "information_content": 100.0}
{"id": "MONDO:0016364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome with ocular defect", "equivalent_identifiers": ["MONDO:0016364", "orphanet:220493", "UMLS:C4274118", "SNOMEDCT:716998009", "medgen:909607", "icd11.foundation:1358617785"], "information_content": 88.2}
{"id": "MONDO:0018305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic granulomatous disease", "equivalent_identifiers": ["MONDO:0018305", "DOID:3265", "OMIM.PS:306400", "orphanet:379", "UMLS:C0018203", "MESH:D006105", "MEDDRA:10008906", "NCIT:C26788", "SNOMEDCT:387759001", "medgen:5377", "icd11.foundation:1329764681", "ICD10:D71"], "information_content": 86.3}
{"id": "HP:0100533", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inflammatory abnormality of the eye", "equivalent_identifiers": ["HP:0100533", "UMLS:C4020969"], "information_content": 76.7}
{"id": "HP:0009723", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal subungual morphology", "equivalent_identifiers": ["HP:0009723", "UMLS:C4024219"], "information_content": 83.6}
{"id": "MONDO:0009766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocerebral hypopigmentation syndrome of Preus", "equivalent_identifiers": ["MONDO:0009766", "OMIM:257790", "orphanet:2720", "UMLS:C2931646", "MESH:C537866", "SNOMEDCT:716174001", "medgen:419131"], "information_content": 100.0}
{"id": "HP:0003272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hip bone morphology", "equivalent_identifiers": ["HP:0003272", "UMLS:C4021735"], "information_content": 69.2}
{"id": "HP:0010662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal diencephalon morphology", "equivalent_identifiers": ["HP:0010662", "UMLS:C4023752"], "information_content": 61.0}
{"id": "HP:0010978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of immune system physiology", "equivalent_identifiers": ["HP:0010978", "UMLS:C4023616"], "information_content": 48.5}
{"id": "HP:0011789", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired sensitivity to thyroid stimulating hormone", "equivalent_identifiers": ["HP:0011789", "UMLS:C4023189"], "information_content": 92.8}
{"id": "HP:0031219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced radioactive iodine uptake", "equivalent_identifiers": ["HP:0031219", "UMLS:C4531269"], "information_content": 100.0}
{"id": "HP:0031220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased radioactive iodine uptake", "equivalent_identifiers": ["HP:0031220", "UMLS:C0151742", "MEDDRA:10022912", "MEDDRA:10056736", "MEDDRA:10056737"], "information_content": 100.0}
{"id": "HP:0025483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating thyroglobulin concentration", "equivalent_identifiers": ["HP:0025483", "UMLS:C4476804"], "information_content": 92.8}
{"id": "HP:0031208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased pituitary glycoprotein hormone alpha subunit level", "equivalent_identifiers": ["HP:0031208", "UMLS:C4531278"], "information_content": 100.0}
{"id": "MONDO:0009853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Imerslund-Grasbeck syndrome", "equivalent_identifiers": ["MONDO:0009853", "OMIM.PS:261100", "orphanet:35858", "UMLS:C1306856", "UMLS:C4551825", "MESH:C538556", "MEDDRA:10081880", "SNOMEDCT:234363001", "SNOMEDCT:34925000", "SNOMEDCT:360495000", "SNOMEDCT:49284006", "medgen:1640347", "icd11.foundation:375969525"], "information_content": 92.8}
{"id": "HP:0410216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood 5-methyltetrahydrofolate level", "equivalent_identifiers": ["HP:0410216", "UMLS:C4732854"], "information_content": 95.4}
{"id": "HP:0020061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hemoglobin concentration", "equivalent_identifiers": ["HP:0020061", "UMLS:C4732749"], "information_content": 89.4}
{"id": "MONDO:0016748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangioblastoma", "equivalent_identifiers": ["MONDO:0016748", "DOID:5241", "orphanet:252054", "UMLS:C0206734", "MESH:D018325", "MEDDRA:10018813", "MEDDRA:10019385", "NCIT:C3801", "SNOMEDCT:1156474009", "SNOMEDCT:81201000", "medgen:104929", "HP:0010797"], "information_content": 83.1}
{"id": "HP:0030144", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoactive bowel sounds", "equivalent_identifiers": ["HP:0030144", "UMLS:C0232695", "MEDDRA:10056360", "SNOMEDCT:15280003"], "information_content": 100.0}
{"id": "MONDO:0011979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset foveomacular vitelliform dystrophy", "equivalent_identifiers": ["MONDO:0011979", "orphanet:99000", "UMLS:C1842914", "MEDDRA:10075544", "SNOMEDCT:232049001", "medgen:334280", "icd11.foundation:558806410"], "information_content": 89.4}
{"id": "MONDO:0016474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug-induced lupus erythematosus", "equivalent_identifiers": ["MONDO:0016474", "DOID:0040093", "orphanet:231111", "UMLS:C0263591", "MESH:C000730515", "MEDDRA:10013706", "NCIT:C114354", "SNOMEDCT:201436003", "SNOMEDCT:80258006", "medgen:537988", "icd11.foundation:1239818910", "ICD10:M32.0"], "information_content": 95.4}
{"id": "HP:0025142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Constitutional symptom", "equivalent_identifiers": ["HP:0025142", "NCIT:C38469", "UMLS:C0009812"], "information_content": 57.2}
{"id": "MONDO:0018166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oral submucous fibrosis", "equivalent_identifiers": ["MONDO:0018166", "DOID:5773", "orphanet:357154", "EFO:1001818", "UMLS:C0029171", "UMLS:C0029172", "MESH:D009914", "MEDDRA:10031023", "MEDDRA:10031025", "MEDDRA:10056775", "NCIT:C34866", "SNOMEDCT:32883009", "medgen:45213", "icd11.foundation:1798376929", "ICD10:K13.5", "ICD9:528.8"], "information_content": 100.0}
{"id": "HP:0000163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal oral cavity morphology", "equivalent_identifiers": ["HP:0000163", "UMLS:C4025887"], "information_content": 55.9}
{"id": "HP:0000600", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the pharynx", "equivalent_identifiers": ["HP:0000600", "UMLS:C4025838"], "information_content": 69.2}
{"id": "HP:0007158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive extrapyramidal muscular rigidity", "equivalent_identifiers": ["HP:0007158", "UMLS:C4021580"], "information_content": 100.0}
{"id": "MONDO:0006583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "necrobiosis lipoidica", "equivalent_identifiers": ["MONDO:0006583", "DOID:3486", "orphanet:542592", "EFO:1000738", "UMLS:C0027538", "MESH:D009335", "MEDDRA:10028847", "NCIT:C34840", "SNOMEDCT:9418005", "medgen:45021", "icd11.foundation:655608138"], "information_content": 100.0}
{"id": "HP:0011990", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal neutrophil physiology", "equivalent_identifiers": ["HP:0011990", "UMLS:C4023093"], "information_content": 83.6}
{"id": "HP:0032217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Indurated nodule", "equivalent_identifiers": ["HP:0032217", "UMLS:C5139202"], "information_content": 100.0}
{"id": "HP:0010327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexion contracture of the 2nd toe", "equivalent_identifiers": ["HP:0010327", "UMLS:C4021296"], "information_content": 90.9}
{"id": "HP:0010339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexion contracture of the 4th toe", "equivalent_identifiers": ["HP:0010339", "UMLS:C4021292"], "information_content": 90.9}
{"id": "orphanet:220460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Attenuated familial adenomatous polyposis", "equivalent_identifiers": ["orphanet:220460"]}
{"id": "MONDO:0021398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyp of rectum", "equivalent_identifiers": ["MONDO:0021398", "UMLS:C0034887", "MEDDRA:10038074", "NCIT:C3351", "SNOMEDCT:39772007", "medgen:11150", "icd11.foundation:2101432719", "HP:0100896"], "information_content": 89.4}
{"id": "HP:0010720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hair pattern", "equivalent_identifiers": ["HP:0010720", "UMLS:C4023721"], "information_content": 75.0}
{"id": "HP:0012513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb pain", "equivalent_identifiers": ["HP:0012513", "NCIT:C34397", "UMLS:C0239377", "MEDDRA:10033421", "MEDDRA:10033503", "MEDDRA:10071701", "SNOMEDCT:102556003"], "information_content": 83.6}
{"id": "HP:0009123", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mixed hypo- and hyperpigmentation of the skin", "equivalent_identifiers": ["HP:0009123", "UMLS:C4024584"], "information_content": 87.2}
{"id": "HP:0002012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the abdominal organs", "equivalent_identifiers": ["HP:0002012", "UMLS:C4021764"], "information_content": 55.3}
{"id": "HP:0000525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality iris morphology", "equivalent_identifiers": ["HP:0000525", "UMLS:C4025845"], "information_content": 72.9}
{"id": "HP:0000940", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal diaphysis morphology", "equivalent_identifiers": ["HP:0000940", "UMLS:C4021787"], "information_content": 68.2}
{"id": "MONDO:0019307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized junctional epidermolysis bullosa non-Herlitz type", "equivalent_identifiers": ["MONDO:0019307", "DOID:0060738", "orphanet:79402", "UMLS:C0432326", "SNOMEDCT:254196004", "SNOMEDCT:724225008", "medgen:609458"], "information_content": 100.0}
{"id": "MONDO:0018298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicentric osteolysis-nodulosis-arthropathy spectrum", "equivalent_identifiers": ["MONDO:0018298", "orphanet:371428", "UMLS:C1850155", "MESH:C536051", "SNOMEDCT:716868003", "medgen:342428"], "information_content": 92.8}
{"id": "HP:0009139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolysis involving bones of the lower limbs", "equivalent_identifiers": ["HP:0009139", "UMLS:C4024576"], "information_content": 77.1}
{"id": "HP:0045039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolysis involving bones of the upper limbs", "equivalent_identifiers": ["HP:0045039", "UMLS:C4073167"], "information_content": 77.3}
{"id": "HP:0000315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the orbital region", "equivalent_identifiers": ["HP:0000315", "UMLS:C4025863"], "information_content": 47.7}
{"id": "HP:0009805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-output congestive heart failure", "equivalent_identifiers": ["HP:0009805", "UMLS:C4024201"], "information_content": 100.0}
{"id": "HP:0030851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low pulse pressure", "equivalent_identifiers": ["HP:0030851", "UMLS:C4280743"], "information_content": 100.0}
{"id": "HP:0030876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased pulmonary capillary wedge pressure", "equivalent_identifiers": ["HP:0030876", "NCIT:C50585", "UMLS:C0520850", "MEDDRA:10034173", "MEDDRA:10037328", "MEDDRA:10037329", "MEDDRA:10058005", "SNOMEDCT:30261008"], "information_content": 100.0}
{"id": "HP:0010733", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Naevus flammeus of the eyelid", "equivalent_identifiers": ["HP:0010733", "UMLS:C1854409"], "information_content": 100.0}
{"id": "HP:0005109", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the Achilles tendon", "equivalent_identifiers": ["HP:0005109", "UMLS:C4021642"], "information_content": 88.2}
{"id": "HP:0030092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced muscle fiber merosin", "equivalent_identifiers": ["HP:0030092", "UMLS:C4022651"], "information_content": 100.0}
{"id": "MONDO:0011578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial papillary thyroid carcinoma with renal papillary neoplasia", "equivalent_identifiers": ["MONDO:0011578", "OMIM:605642", "orphanet:97290", "UMLS:C1854104", "MESH:C565310", "SNOMEDCT:717734005", "medgen:381339"], "information_content": 100.0}
{"id": "MONDO:0005586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "head and neck neoplasm", "equivalent_identifiers": ["MONDO:0005586", "EFO:0005950", "UMLS:C0018671", "MESH:D006258", "NCIT:C3077", "SNOMEDCT:255055008", "SNOMEDCT:255056009", "medgen:6728", "HP:0012288"], "information_content": 49.7}
{"id": "HP:3000037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal neck blood vessel morphology", "equivalent_identifiers": ["HP:3000037", "UMLS:C4073245"], "information_content": 89.4}
{"id": "MONDO:1060108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "equivalent_identifiers": ["MONDO:1060108", "orphanet:438213"], "information_content": 92.8}
{"id": "MONDO:0003381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary gland disorder", "equivalent_identifiers": ["MONDO:0003381", "DOID:53", "EFO:0009607", "UMLS:C0029493", "UMLS:C0032002", "UMLS:C4023206", "MESH:D010900", "MEDDRA:10035082", "MEDDRA:10048593", "NCIT:C26854", "SNOMEDCT:399244003", "medgen:45934", "ICD9:253.1", "HP:0011747"], "information_content": 68.2}
{"id": "HP:0031253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of left subclavian artery", "equivalent_identifiers": ["HP:0031253", "UMLS:C4531246"], "information_content": 100.0}
{"id": "MONDO:0011899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome-like disorder with loose anagen hair", "equivalent_identifiers": ["MONDO:0011899", "DOID:0080691", "OMIM.PS:607721", "orphanet:2701", "UMLS:C1843181", "UMLS:C3501846", "MESH:C564342", "NCIT:C178129", "SNOMEDCT:723444009", "medgen:334697"], "information_content": 92.8}
{"id": "HP:0005108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal intervertebral disk morphology", "equivalent_identifiers": ["HP:0005108", "UMLS:C4025249"], "information_content": 74.2}
{"id": "HP:0009811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the elbow", "equivalent_identifiers": ["HP:0009811", "UMLS:C4021386"], "information_content": 71.9}
{"id": "MONDO:0100367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "port-wine nevi-mega cisterna magna-hydrocephalus syndrome", "equivalent_identifiers": ["MONDO:0100367", "orphanet:2703", "UMLS:C5191040", "SNOMEDCT:783701002", "medgen:1682989"], "information_content": 100.0}
{"id": "HP:0002334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebellar vermis morphology", "equivalent_identifiers": ["HP:0002334", "UMLS:C4025712"], "information_content": 76.4}
{"id": "HP:0100308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral cortical hemiatrophy", "equivalent_identifiers": ["HP:0100308", "UMLS:C4022153"], "information_content": 100.0}
{"id": "MONDO:0000463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ochoa syndrome", "equivalent_identifiers": ["MONDO:0000463", "DOID:0050816", "OMIM.PS:236730", "orphanet:2704", "UMLS:C0403555", "MESH:C536480", "MEDDRA:10089227", "MEDDRA:10089228", "SNOMEDCT:236533008", "medgen:98015", "icd11.foundation:443886910"], "information_content": 92.8}
{"id": "HP:0010832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of pain sensation", "equivalent_identifiers": ["HP:0010832", "UMLS:C4023691"], "information_content": 86.3}
{"id": "MONDO:0000453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short QT syndrome", "equivalent_identifiers": ["MONDO:0000453", "DOID:0050793", "OMIM.PS:609620", "orphanet:51083", "UMLS:C2348199", "MESH:C580439", "NCIT:C71060", "SNOMEDCT:698272007", "medgen:378835", "icd11.foundation:553392015"], "information_content": 89.4}
{"id": "MONDO:0019964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymic neuroendocrine tumor", "equivalent_identifiers": ["MONDO:0019964", "orphanet:97289", "UMLS:C1336746", "MEDDRA:10091079", "MEDDRA:10091080", "NCIT:C6430", "HP:0034954"], "information_content": 87.2}
{"id": "MONDO:0005197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymus neoplasm", "equivalent_identifiers": ["MONDO:0005197", "orphanet:100100", "EFO:0002626", "UMLS:C3714644", "MESH:D013953", "MEDDRA:10056296", "NCIT:C3412", "SNOMEDCT:127231009", "medgen:811424", "HP:0100521"], "information_content": 68.9}
{"id": "MONDO:0019496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0019496", "DOID:169", "orphanet:877", "EFO:1001901", "UMLS:C0206754", "MESH:D018358", "MEDDRA:10052399", "MEDDRA:10062476", "NCIT:C188218", "NCIT:C3809", "SNOMEDCT:1286768001", "SNOMEDCT:1288045008", "SNOMEDCT:128928004", "SNOMEDCT:1290052006", "SNOMEDCT:255046005", "medgen:64652", "ICD10:D3A.8", "ICD9:209-209.99", "HP:0100634"], "information_content": 55.1}
{"id": "HP:0045026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mediastinum morphology", "equivalent_identifiers": ["HP:0045026", "UMLS:C4022395"], "information_content": 88.2}
{"id": "HP:0005345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vena cava morphology", "equivalent_identifiers": ["HP:0005345", "UMLS:C4025210", "UMLS:C4476886"], "information_content": 82.1}
{"id": "HP:0030829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal breath sound", "equivalent_identifiers": ["HP:0030829", "UMLS:C0231856", "MEDDRA:10064780", "SNOMEDCT:301273002"], "information_content": 69.7}
{"id": "MONDO:0002082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocrine gland neoplasm", "equivalent_identifiers": ["MONDO:0002082", "EFO:0003769", "UMLS:C0014132", "MEDDRA:10014709", "MEDDRA:10061121", "NCIT:C3010", "SNOMEDCT:387922007", "SNOMEDCT:387927001", "medgen:4044", "HP:0100568"], "information_content": 53.2}
{"id": "MONDO:0017825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silent pituitary adenoma", "equivalent_identifiers": ["MONDO:0017825", "orphanet:314786", "UMLS:C0338078", "MEDDRA:10029556", "SNOMEDCT:1156905002", "SNOMEDCT:254962005", "medgen:90850", "HP:0011761"], "information_content": 100.0}
{"id": "HP:0001850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the tarsal bones", "equivalent_identifiers": ["HP:0001850", "UMLS:C1862136"], "information_content": 73.7}
{"id": "HP:0010833", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous pain sensation", "equivalent_identifiers": ["HP:0010833", "UMLS:C4023690"], "information_content": 100.0}
{"id": "HP:0030834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shoulder pain", "equivalent_identifiers": ["HP:0030834", "NCIT:C35022", "UMLS:C0037011", "MEDDRA:10040617", "SNOMEDCT:45326000", "MESH:D020069"], "information_content": 89.4}
{"id": "HP:0010318", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the abdominal wall musculature", "equivalent_identifiers": ["HP:0010318", "UMLS:C4023909"], "information_content": 90.9}
{"id": "HP:0004311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal macrophage morphology", "equivalent_identifiers": ["HP:0004311", "UMLS:C4021661"], "information_content": 74.5}
{"id": "MONDO:0957487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic catatonia", "equivalent_identifiers": ["MONDO:0957487", "orphanet:648919", "UMLS:C5816742", "SNOMEDCT:1335868004", "medgen:1843416"], "information_content": 100.0}
{"id": "HP:0011730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal central sensory function", "equivalent_identifiers": ["HP:0011730", "UMLS:C4023215"], "information_content": 90.9}
{"id": "MONDO:0018150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease", "equivalent_identifiers": ["MONDO:0018150", "DOID:1926", "orphanet:355", "UMLS:C0017205", "MESH:D005776", "MEDDRA:10018048", "MEDDRA:10018446", "NCIT:C61268", "SNOMEDCT:180485001", "SNOMEDCT:190794006", "medgen:42164", "icd11.foundation:1923566939", "ICD10:E75.22"], "information_content": 88.2}
{"id": "HP:0032640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating CCL18 level", "equivalent_identifiers": ["HP:0032640", "UMLS:C5397657"], "information_content": 100.0}
{"id": "HP:6000213", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating Angiotensin-converting enzyme concentration", "equivalent_identifiers": ["HP:6000213", "UMLS:C5937044"], "information_content": 100.0}
{"id": "HP:0001637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal myocardium morphology", "equivalent_identifiers": ["HP:0001637", "UMLS:C4025758"], "information_content": 65.8}
{"id": "HP:0001697", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pericardium morphology", "equivalent_identifiers": ["HP:0001697", "UMLS:C4025754"], "information_content": 76.4}
{"id": "HP:0030892", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deep cerebral white matter hyperintensities", "equivalent_identifiers": ["HP:0030892", "UMLS:C4293685"], "information_content": 100.0}
{"id": "HP:0040161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Localized osteoporosis", "equivalent_identifiers": ["HP:0040161", "UMLS:C1398367"], "information_content": 95.4}
{"id": "HP:0031866", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clasp-knife sign", "equivalent_identifiers": ["HP:0031866", "UMLS:C4703724"], "information_content": 100.0}
{"id": "HP:0007058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized cerebral atrophy/hypoplasia", "equivalent_identifiers": ["HP:0007058", "UMLS:C4024945"], "information_content": 100.0}
{"id": "HP:0025262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff hip", "equivalent_identifiers": ["HP:0025262", "UMLS:C0239957", "MEDDRA:10049770", "SNOMEDCT:249914008"], "information_content": 100.0}
{"id": "MONDO:0018749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome", "equivalent_identifiers": ["MONDO:0018749", "orphanet:46532", "UMLS:C0271994", "SNOMEDCT:16964007", "medgen:543715", "icd11.foundation:418601307"], "information_content": 100.0}
{"id": "MONDO:0850097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune limbic encephalitis", "equivalent_identifiers": ["MONDO:0850097", "orphanet:623615", "UMLS:C2930824", "MESH:C531729", "SNOMEDCT:1300193002", "medgen:419645", "icd11.foundation:1254443511"], "information_content": 100.0}
{"id": "HP:0010843", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with focal slow activity", "equivalent_identifiers": ["HP:0010843", "UMLS:C4021218"], "information_content": 92.8}
{"id": "HP:0012658", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal brain FDG positron emission tomography", "equivalent_identifiers": ["HP:0012658", "UMLS:C4022798"], "information_content": 89.4}
{"id": "HP:5000016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Hu antibody positivity", "equivalent_identifiers": ["HP:5000016", "UMLS:C5552993"], "information_content": 100.0}
{"id": "HP:5000020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-LGI1 antibody", "equivalent_identifiers": ["HP:5000020", "UMLS:C5558416"], "information_content": 100.0}
{"id": "HP:6001115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with temporal slowing", "equivalent_identifiers": ["HP:6001115", "UMLS:C5970430"], "information_content": 100.0}
{"id": "HP:5000005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-CASPR2", "equivalent_identifiers": ["HP:5000005", "UMLS:C5558404"], "information_content": 100.0}
{"id": "HP:5000010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-GABA(B)R antibody", "equivalent_identifiers": ["HP:5000010", "UMLS:C5558408"], "information_content": 100.0}
{"id": "HP:0100836", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malignant neoplasm of the central nervous system", "equivalent_identifiers": ["HP:0100836", "UMLS:C0348374", "SNOMEDCT:372062007"], "information_content": 79.6}
{"id": "HP:0005195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyarticular arthropathy", "equivalent_identifiers": ["HP:0005195", "UMLS:C4025239"], "information_content": 95.4}
{"id": "HP:0034064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-salivary protein antibody positivity", "equivalent_identifiers": ["HP:0034064", "UMLS:C5676661"], "information_content": 100.0}
{"id": "HP:0034066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-carbonic anhydrase VI antibody positivity", "equivalent_identifiers": ["HP:0034066", "UMLS:C5676663"], "information_content": 100.0}
{"id": "HP:0034069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-parotid secretory protein antibody positivity", "equivalent_identifiers": ["HP:0034069", "UMLS:C5676666"], "information_content": 100.0}
{"id": "HP:0004302", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Functional motor deficit", "equivalent_identifiers": ["HP:0004302", "UMLS:C4025360"], "information_content": 87.2}
{"id": "HP:0031452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lichenoid skin lesion", "equivalent_identifiers": ["HP:0031452", "UMLS:C4531107"], "information_content": 100.0}
{"id": "HP:0031983", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulmonary thoracic imaging finding", "equivalent_identifiers": ["HP:0031983", "UMLS:C4732791"], "information_content": 71.2}
{"id": "HP:0034076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-ribosome Po antibody positivity", "equivalent_identifiers": ["HP:0034076", "UMLS:C5676672"], "information_content": 100.0}
{"id": "HP:0034093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Ro52/TRIM21 antibody positivity", "equivalent_identifiers": ["HP:0034093", "UMLS:C5676689"], "information_content": 100.0}
{"id": "HP:0410008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the peripheral nervous system", "equivalent_identifiers": ["HP:0410008", "UMLS:C4073187"], "information_content": 55.6}
{"id": "MONDO:0002545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal cord disorder", "equivalent_identifiers": ["MONDO:0002545", "DOID:319", "EFO:0009488", "UMLS:C0037928", "UMLS:C4025722", "UMLS:C4477104", "MESH:D013118", "MEDDRA:10028570", "MEDDRA:10028574", "MEDDRA:10041550", "MEDDRA:10045757", "MEDDRA:10061367", "NCIT:C97110", "SNOMEDCT:48522003", "medgen:11550", "ICD10:G95.9", "ICD9:336.9", "HP:0002143"], "information_content": 64.4}
{"id": "MONDO:0015397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial microsomia", "equivalent_identifiers": ["MONDO:0015397", "DOID:2907", "OMIM.PS:164210", "orphanet:141132", "UMLS:C0265240", "MESH:D006053", "MEDDRA:10050349", "MEDDRA:10051934", "NCIT:C84740", "SNOMEDCT:1010685005", "SNOMEDCT:109393007", "SNOMEDCT:205418005", "SNOMEDCT:254026007", "SNOMEDCT:367462009", "SNOMEDCT:703973009", "medgen:75554"], "information_content": 92.8}
{"id": "HP:0033792", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cross bite", "equivalent_identifiers": ["HP:0033792", "NCIT:C94561", "UMLS:C0242385", "MEDDRA:10078040", "SNOMEDCT:109495004"], "information_content": 100.0}
{"id": "HP:0009117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the maxilla", "equivalent_identifiers": ["HP:0009117", "UMLS:C4024590"], "information_content": 87.2}
{"id": "HP:0009118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the mandible", "equivalent_identifiers": ["HP:0009118", "UMLS:C3494426", "UMLS:C4024589", "UMLS:C4280261", "UMLS:C4280401"], "information_content": 81.7}
{"id": "MONDO:0018103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quinquaud's folliculitis decalvans", "equivalent_identifiers": ["MONDO:0018103", "orphanet:346", "UMLS:C2608043", "MEDDRA:10063921", "SNOMEDCT:53593008", "medgen:750617", "icd11.foundation:1454811046"], "information_content": 100.0}
{"id": "HP:0005264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the gallbladder", "equivalent_identifiers": ["HP:0005264", "UMLS:C0266249", "MEDDRA:10002629", "MEDDRA:10010308", "MEDDRA:10017612", "MEDDRA:10061163", "SNOMEDCT:253803008", "SNOMEDCT:49714001"], "information_content": 73.8}
{"id": "MONDO:0015099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "unilateral hemispheric polymicrogyria", "equivalent_identifiers": ["MONDO:0015099", "orphanet:101071", "UMLS:C5681804", "medgen:1842283", "icd11.foundation:1318599015"], "information_content": 100.0}
{"id": "HP:0020220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal atonic seizure", "equivalent_identifiers": ["HP:0020220", "UMLS:C5397596", "SNOMEDCT:1269366008"], "information_content": 92.8}
{"id": "MONDO:0018044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic hypersomnia", "equivalent_identifiers": ["MONDO:0018044", "orphanet:33208", "UMLS:C0033138", "UMLS:C0751757", "MESH:D020177", "MEDDRA:10036694", "MEDDRA:10075058", "NCIT:C116343", "NCIT:C84781", "SNOMEDCT:36124002", "SNOMEDCT:3731000119107", "medgen:155626", "icd11.foundation:631826564"], "information_content": 92.8}
{"id": "HP:0033630", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brain fog", "equivalent_identifiers": ["HP:0033630", "UMLS:C0015676", "MEDDRA:10076757", "MEDDRA:10088940", "MESH:D005222"], "information_content": 100.0}
{"id": "HP:6000456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sleep drunkeness", "equivalent_identifiers": ["HP:6000456", "UMLS:C5890444"], "information_content": 100.0}
{"id": "MONDO:0018088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial Mediterranean fever", "equivalent_identifiers": ["MONDO:0018088", "DOID:2987", "orphanet:342", "UMLS:C0031069", "MESH:D010505", "MEDDRA:10016207", "MEDDRA:10016211", "NCIT:C84707", "SNOMEDCT:12579009", "medgen:45811", "icd11.foundation:1373335705", "ICD9:277.31"], "information_content": 92.8}
{"id": "HP:0012591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urinary electrolyte concentration", "equivalent_identifiers": ["HP:0012591", "UMLS:C4022833"], "information_content": 74.5}
{"id": "MONDO:0018081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hantavirosis", "equivalent_identifiers": ["MONDO:0018081", "orphanet:340", "EFO:0007299", "UMLS:C0019101", "UMLS:C2930957", "MESH:C535630", "MESH:D006480", "MEDDRA:10019015", "MEDDRA:10019142", "MEDDRA:10019606", "MEDDRA:10023484", "MEDDRA:10055301", "MEDDRA:10062539", "MEDDRA:10075015", "MEDDRA:10075020", "SNOMEDCT:364756009", "SNOMEDCT:716864001", "medgen:42408", "icd11.foundation:1059069619"], "information_content": 100.0}
{"id": "HP:0011037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urine output", "equivalent_identifiers": ["HP:0011037", "NCIT:C80522", "UMLS:C3887784", "MEDDRA:10046551", "MEDDRA:10046552", "MEDDRA:10046665", "MEDDRA:10046681", "MEDDRA:10047694", "MEDDRA:10059895"], "information_content": 87.2}
{"id": "MONDO:0800337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute tubulointerstitial nephritis", "equivalent_identifiers": ["MONDO:0800337", "UMLS:C1843274", "MESH:C564356", "MEDDRA:10000819", "MEDDRA:10022614", "MEDDRA:10029135", "SNOMEDCT:28637003", "medgen:334716", "HP:0004729"], "information_content": 100.0}
{"id": "HP:0011029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Internal hemorrhage", "equivalent_identifiers": ["HP:0011029", "UMLS:C1390214", "MEDDRA:10075192", "MEDDRA:10075195", "MEDDRA:10075196"], "information_content": 68.3}
{"id": "HP:0012440", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal biliary tract morphology", "equivalent_identifiers": ["HP:0012440", "UMLS:C4021086"], "information_content": 74.7}
{"id": "HP:0031181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Necrolytic migratory erythema", "equivalent_identifiers": ["HP:0031181", "UMLS:C0221243", "MEDDRA:10060821", "SNOMEDCT:15576007", "MESH:D058568"], "information_content": 100.0}
{"id": "MONDO:0020391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary artery coming from the aorta", "equivalent_identifiers": ["MONDO:0020391", "orphanet:99050", "UMLS:C3838927", "SNOMEDCT:703385008", "medgen:824773"], "information_content": 100.0}
{"id": "HP:0011661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of left pulmonary artery from ascending aorta", "equivalent_identifiers": ["HP:0011661", "UMLS:C0345040", "SNOMEDCT:253637002"], "information_content": 100.0}
{"id": "HP:0012303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal aortic arch morphology", "equivalent_identifiers": ["HP:0012303", "UMLS:C3163801", "SNOMEDCT:448742006"], "information_content": 75.8}
{"id": "HP:0031934", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal descending aorta morphology", "equivalent_identifiers": ["HP:0031934", "UMLS:C4732763"], "information_content": 95.4}
{"id": "MONDO:0044877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraneoplastic cerebellar degeneration", "equivalent_identifiers": ["MONDO:0044877", "orphanet:623626", "UMLS:C0393534", "MESH:D020362", "MEDDRA:10048705", "NCIT:C4685", "medgen:98273", "icd11.foundation:1087616692"], "information_content": 90.9}
{"id": "HP:0011134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low-grade fever", "equivalent_identifiers": ["HP:0011134", "NCIT:C35292", "UMLS:C0239574", "MEDDRA:10082521", "SNOMEDCT:304213008"], "information_content": 95.4}
{"id": "MONDO:0021100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast neoplasm", "equivalent_identifiers": ["MONDO:0021100", "EFO:0003869", "UMLS:C1458155", "MESH:D001943", "MEDDRA:10006279", "MEDDRA:10006285", "MEDDRA:10028985", "NCIT:C2910", "SNOMEDCT:126926005", "medgen:264172", "HP:0100013"], "information_content": 56.4}
{"id": "HP:5000006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-CV2/CRMP5 antibody positivity", "equivalent_identifiers": ["HP:5000006", "UMLS:C5552970"], "information_content": 100.0}
{"id": "HP:5000024", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-mGluR1 antibody", "equivalent_identifiers": ["HP:5000024", "UMLS:C5558419"], "information_content": 100.0}
{"id": "HP:5000030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Ri antibody", "equivalent_identifiers": ["HP:5000030", "UMLS:C5553013"], "information_content": 100.0}
{"id": "HP:5000034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Tr/DNER antibody", "equivalent_identifiers": ["HP:5000034", "UMLS:C5553937"], "information_content": 100.0}
{"id": "HP:5000037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Yo antibody positivity", "equivalent_identifiers": ["HP:5000037", "UMLS:C5574857"], "information_content": 100.0}
{"id": "HP:0012696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thalamic MRI signal intensity", "equivalent_identifiers": ["HP:0012696", "UMLS:C4022770"], "information_content": 90.9}
{"id": "MONDO:0011340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital tracheal stenosis", "equivalent_identifiers": ["MONDO:0011340", "OMIM:603569", "orphanet:141127", "UMLS:C0265767", "UMLS:C1863703", "MESH:C000715347", "MESH:C566362", "SNOMEDCT:890389003", "SNOMEDCT:9660004", "medgen:120556", "icd11.foundation:2095672409"], "information_content": 100.0}
{"id": "HP:0030923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5-minute APGAR score of 3", "equivalent_identifiers": ["HP:0030923", "UMLS:C4476853"], "information_content": 100.0}
{"id": "MONDO:0005275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung disorder", "equivalent_identifiers": ["MONDO:0005275", "DOID:850", "EFO:0003818", "UMLS:C0024115", "UMLS:C4021760", "MESH:D008171", "MEDDRA:10013235", "MEDDRA:10013259", "MEDDRA:10025082", "MEDDRA:10025083", "MEDDRA:10037373", "MEDDRA:10049490", "MEDDRA:10051054", "NCIT:C3198", "SNOMEDCT:19829001", "medgen:7399", "ICD10:J98.4", "HP:0002088"], "information_content": 56.4}
{"id": "HP:0002577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal stomach morphology", "equivalent_identifiers": ["HP:0002577", "UMLS:C4025699"], "information_content": 69.2}
{"id": "HP:0012718", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal gastrointestinal tract morphology", "equivalent_identifiers": ["HP:0012718", "UMLS:C4021073"], "information_content": 57.7}
{"id": "HP:0025426", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal bronchus morphology", "equivalent_identifiers": ["HP:0025426", "UMLS:C4476770"], "information_content": 74.5}
{"id": "HP:0002624", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal venous morphology", "equivalent_identifiers": ["HP:0002624", "UMLS:C0241665"], "information_content": 69.7}
{"id": "MONDO:0016982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiosarcoma", "equivalent_identifiers": ["MONDO:0016982", "DOID:0001816", "orphanet:263413", "EFO:0003968", "UMLS:C0018923", "UMLS:C0854893", "MESH:D006394", "MEDDRA:10002476", "MEDDRA:10002479", "MEDDRA:10018827", "MEDDRA:10018828", "MEDDRA:10019407", "MEDDRA:10050367", "MEDDRA:10057700", "MEDDRA:10060540", "NCIT:C3088", "NCIT:C9275", "SNOMEDCT:33176006", "SNOMEDCT:39000009", "SNOMEDCT:403977003", "SNOMEDCT:863926008", "medgen:42385", "HP:0200058"], "information_content": 72.9}
{"id": "MONDO:0018060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital fibrinogen deficiency", "equivalent_identifiers": ["MONDO:0018060", "orphanet:335", "UMLS:C2062367", "medgen:412157", "icd11.foundation:1452989457"], "information_content": 89.4}
{"id": "HP:0012886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemorrhagic ovarian cyst", "equivalent_identifiers": ["HP:0012886", "UMLS:C0473311", "MEDDRA:10018983", "MEDDRA:10055267", "MEDDRA:10060781", "MEDDRA:10060783", "SNOMEDCT:119420007"], "information_content": 100.0}
{"id": "MONDO:0019314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous mastocytoma", "equivalent_identifiers": ["MONDO:0019314", "orphanet:79455", "UMLS:C0343115", "SNOMEDCT:239147000", "SNOMEDCT:397013007", "SNOMEDCT:703836007", "medgen:83357", "icd11.foundation:1853236564"], "information_content": 95.4}
{"id": "HP:0025081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Darier's sign", "equivalent_identifiers": ["HP:0025081", "UMLS:C0878658"], "information_content": 100.0}
{"id": "HP:0025473", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpigmented papule", "equivalent_identifiers": ["HP:0025473", "UMLS:C3647115"], "information_content": 100.0}
{"id": "HP:0031901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated total serum tryptase", "equivalent_identifiers": ["HP:0031901", "UMLS:C5421558"], "information_content": 100.0}
{"id": "MONDO:0019315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse cutaneous mastocytosis", "equivalent_identifiers": ["MONDO:0019315", "DOID:3665", "orphanet:79456", "UMLS:C0024901", "MEDDRA:10012812", "NCIT:C3218", "SNOMEDCT:703826004", "medgen:44303", "icd11.foundation:193128939"], "information_content": 92.8}
{"id": "HP:0001844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hallux morphology", "equivalent_identifiers": ["HP:0001844", "UMLS:C4021773"], "information_content": 68.1}
{"id": "HP:0010058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the hallux", "equivalent_identifiers": ["HP:0010058", "UMLS:C4024079"], "information_content": 85.5}
{"id": "MONDO:0002360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroma", "equivalent_identifiers": ["MONDO:0002360", "DOID:2602", "UMLS:C0936248", "UMLS:C1704356", "MESH:D002812", "MEDDRA:10008725", "MEDDRA:10069069", "NCIT:C3007", "NCIT:C53459", "SNOMEDCT:31186001", "SNOMEDCT:423699002", "medgen:181701", "HP:0030038"], "information_content": 83.6}
{"id": "HP:0100240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synostosis of joints", "equivalent_identifiers": ["HP:0100240", "UMLS:C0332790", "UMLS:C4022183", "SNOMEDCT:70996008"], "information_content": 67.1}
{"id": "MONDO:0019316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maculopapular cutaneous mastocytosis", "equivalent_identifiers": ["MONDO:0019316", "DOID:12309", "orphanet:79457", "EFO:1001229", "UMLS:C0042111", "MESH:D014582", "MEDDRA:10046752", "NCIT:C3433", "SNOMEDCT:1332134000", "SNOMEDCT:78745000", "medgen:22588", "icd11.foundation:245322245", "ICD10:D47.01"], "information_content": 89.4}
{"id": "HP:0020172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adverse drug response", "equivalent_identifiers": ["HP:0020172", "NCIT:C142385", "UMLS:C0041755", "MEDDRA:10052538", "MEDDRA:10061623", "MEDDRA:10067033", "SNOMEDCT:264519003", "SNOMEDCT:62014003", "MESH:D064420"], "information_content": 95.4}
{"id": "MONDO:0016456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5q14.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016456", "orphanet:228384", "UMLS:C4304529", "SNOMEDCT:719661007", "medgen:930198"], "information_content": 100.0}
{"id": "HP:0012639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nervous system morphology", "equivalent_identifiers": ["HP:0012639", "UMLS:C4022810"], "information_content": 43.8}
{"id": "orphanet:377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gorlin syndrome", "equivalent_identifiers": ["orphanet:377"]}
{"id": "MONDO:0100131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pediatric acute respiratory distress syndrome", "equivalent_identifiers": ["MONDO:0100131", "orphanet:685082"], "information_content": 92.8}
{"id": "MONDO:0010731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simpson-Golabi-Behmel syndrome", "equivalent_identifiers": ["MONDO:0010731", "orphanet:373", "UMLS:C4317043", "MESH:C537340", "MEDDRA:10085695", "NCIT:C131002", "SNOMEDCT:439143004", "medgen:1387611", "icd11.foundation:181316558"], "information_content": 92.8}
{"id": "MONDO:0018013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-immunoglobulin-mediated membranoproliferative glomerulonephritis", "equivalent_identifiers": ["MONDO:0018013", "orphanet:329918", "UMLS:C4087273", "MEDDRA:10077827", "medgen:1672497"], "information_content": 90.9}
{"id": "HP:0025364", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glomerular extracapillary hypercellularity", "equivalent_identifiers": ["HP:0025364", "UMLS:C4476733"], "information_content": 100.0}
{"id": "HP:0030888", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C3 nephritic factor positivity", "equivalent_identifiers": ["HP:0030888", "UMLS:C4293688"], "information_content": 100.0}
{"id": "MONDO:0018616", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central serous chorioretinopathy", "equivalent_identifiers": ["MONDO:0018616", "orphanet:443079", "EFO:0009784", "UMLS:C0730328", "MESH:D056833", "MEDDRA:10007974", "MEDDRA:10086644", "MEDDRA:10086647", "NCIT:C115124", "SNOMEDCT:312956001", "medgen:147591", "icd11.foundation:1623925689", "HP:0025567"], "information_content": 100.0}
{"id": "HP:0030469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dark-adapted electroretinogram", "equivalent_identifiers": ["HP:0030469", "UMLS:C4072959"], "information_content": 84.2}
{"id": "HP:0011458", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal symptom", "equivalent_identifiers": ["HP:0011458", "UMLS:C0740651", "MEDDRA:10000095", "MEDDRA:10060926"], "information_content": 58.2}
{"id": "HP:0011869", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal platelet function", "equivalent_identifiers": ["HP:0011869", "UMLS:C0855740", "MEDDRA:10000166", "MEDDRA:10035535"], "information_content": 75.0}
{"id": "HP:0008227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pituitary resistance to thyroid hormone", "equivalent_identifiers": ["HP:0008227", "NCIT:C131216", "UMLS:C0342198", "UMLS:C5886773", "MEDDRA:10090567", "SNOMEDCT:360348000", "SNOMEDCT:360353005"], "information_content": 100.0}
{"id": "HP:0010027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad 1st metacarpal", "equivalent_identifiers": ["HP:0010027", "UMLS:C4024097"], "information_content": 100.0}
{"id": "HP:0011997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postprandial hyperlactemia", "equivalent_identifiers": ["HP:0011997", "UMLS:C4023089"], "information_content": 100.0}
{"id": "HP:0005483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal epiglottis morphology", "equivalent_identifiers": ["HP:0005483", "UMLS:C4025190"], "information_content": 83.6}
{"id": "HP:0034932", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating acid maltase activity", "equivalent_identifiers": ["HP:0034932", "UMLS:C5826778"], "information_content": 100.0}
{"id": "HP:0030195", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of swallowing muscles", "equivalent_identifiers": ["HP:0030195", "UMLS:C4022588"], "information_content": 100.0}
{"id": "HP:0030196", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of respiratory muscles", "equivalent_identifiers": ["HP:0030196", "UMLS:C4022587"], "information_content": 100.0}
{"id": "HP:0031310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basilar artery calcification", "equivalent_identifiers": ["HP:0031310", "UMLS:C4531209"], "information_content": 100.0}
{"id": "HP:3000062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal internal carotid artery morphology", "equivalent_identifiers": ["HP:3000062", "UMLS:C1860488"], "information_content": 82.1}
{"id": "MONDO:0002413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease I", "equivalent_identifiers": ["MONDO:0002413", "DOID:0081329", "orphanet:364", "UMLS:C0017920", "MESH:D005953", "MEDDRA:10018464", "MEDDRA:10045239", "MEDDRA:10047711", "MEDDRA:10057085", "NCIT:C84733", "SNOMEDCT:124437004", "SNOMEDCT:7265005", "medgen:6640", "ICD10:E74.01"], "information_content": 89.4}
{"id": "HP:0012269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal muscle glycogen content", "equivalent_identifiers": ["HP:0012269", "UMLS:C4022980"], "information_content": 87.2}
{"id": "HP:0031331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cardiomyocyte morphology", "equivalent_identifiers": ["HP:0031331", "UMLS:C4531192"], "information_content": 83.1}
{"id": "HP:0500032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal neuron branching", "equivalent_identifiers": ["HP:0500032", "UMLS:C4477089"], "information_content": 95.4}
{"id": "MONDO:0016457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome", "equivalent_identifiers": ["MONDO:0016457", "orphanet:228396", "UMLS:C4510249", "SNOMEDCT:724016008", "medgen:1378529"], "information_content": 100.0}
{"id": "MONDO:0008733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial glucocorticoid deficiency", "equivalent_identifiers": ["MONDO:0008733", "DOID:0080620", "OMIM.PS:202200", "orphanet:361", "UMLS:C4054695", "MESH:C565974", "MEDDRA:10082603", "NCIT:C120446", "SNOMEDCT:765326001", "medgen:885955", "icd11.foundation:861297039"], "information_content": 87.2}
{"id": "HP:0025451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Testicular adrenal rest tumor", "equivalent_identifiers": ["HP:0025451", "UMLS:C4476786"], "information_content": 100.0}
{"id": "MONDO:0006266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leydig cell tumor", "equivalent_identifiers": ["MONDO:0006266", "DOID:2696", "EFO:1000321", "UMLS:C0023601", "UMLS:C4022011", "MESH:D007984", "NCIT:C3188", "medgen:9747", "HP:0100618"], "information_content": 85.5}
{"id": "HP:0031076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired cortisol response to insulin stimulation test", "equivalent_identifiers": ["HP:0031076", "UMLS:C4476955"], "information_content": 100.0}
{"id": "HP:0012638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nervous system physiology", "equivalent_identifiers": ["HP:0012638", "UMLS:C4022811"], "information_content": 44.8}
{"id": "HP:0025461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cell morphology", "equivalent_identifiers": ["HP:0025461", "UMLS:C4476793"], "information_content": 45.4}
{"id": "MONDO:0016458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "8q12 microduplication syndrome", "equivalent_identifiers": ["MONDO:0016458", "orphanet:228399", "UMLS:C4304504", "SNOMEDCT:719684000", "medgen:930173"], "information_content": 100.0}
{"id": "MONDO:0010898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant epilepsy with auditory features", "equivalent_identifiers": ["MONDO:0010898", "orphanet:101046", "UMLS:C1838062", "MESH:C537297", "SNOMEDCT:784377008", "medgen:325326", "icd11.foundation:832717248"], "information_content": 100.0}
{"id": "HP:0030114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent muscle fiber dysferlin", "equivalent_identifiers": ["HP:0030114", "UMLS:C4022631"], "information_content": 100.0}
{"id": "HP:0031177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger flexor weakness", "equivalent_identifiers": ["HP:0031177", "UMLS:C4477022"], "information_content": 100.0}
{"id": "MONDO:0019312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome", "equivalent_identifiers": ["MONDO:0019312", "DOID:3753", "OMIM.PS:203300", "orphanet:79430", "UMLS:C0079504", "MESH:D022861", "MEDDRA:10071775", "NCIT:C37261", "SNOMEDCT:9311003", "medgen:36313", "icd11.foundation:2089801290", "ICD10:E70.331"], "information_content": 82.1}
{"id": "HP:0400008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Menometrorrhagia", "equivalent_identifiers": ["HP:0400008", "UMLS:C0232943", "MEDDRA:10027295", "SNOMEDCT:314631008", "SNOMEDCT:351814001"], "information_content": 100.0}
{"id": "MONDO:0015096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypofibrinogenemia", "equivalent_identifiers": ["MONDO:0015096", "orphanet:101041", "UMLS:C5681803", "medgen:1826143"], "information_content": 100.0}
{"id": "HP:0100875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemimacroglossia", "equivalent_identifiers": ["HP:0100875", "UMLS:C4021947", "UMLS:C4280287"], "information_content": 100.0}
{"id": "HP:0025797", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral sensorineural hearing impairment", "equivalent_identifiers": ["HP:0025797"], "information_content": 100.0}
{"id": "MONDO:0008215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset autosomal dominant demyelinating leukodystrophy", "equivalent_identifiers": ["MONDO:0008215", "DOID:0051015", "DOID:0060785", "OMIM.PS:169500", "orphanet:99027", "UMLS:C1868512", "UMLS:C3164344", "MESH:C566813", "SNOMEDCT:448054001", "medgen:356995"], "information_content": 92.8}
{"id": "HP:0011931", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebellar peduncle morphology", "equivalent_identifiers": ["HP:0011931", "UMLS:C4023121"], "information_content": 78.5}
{"id": "HP:0100639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erectile dysfunction", "equivalent_identifiers": ["HP:0100639"], "information_content": 87.2}
{"id": "HP:0011358", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hypopigmentation of hair", "equivalent_identifiers": ["HP:0011358", "UMLS:C4023400"], "information_content": 90.9}
{"id": "HP:0009888", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of secondary sexual hair", "equivalent_identifiers": ["HP:0009888", "UMLS:C4024171"], "information_content": 87.2}
{"id": "HP:0011362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hair quantity", "equivalent_identifiers": ["HP:0011362", "UMLS:C4023397", "UMLS:C4023401"], "information_content": 71.4}
{"id": "MONDO:0019949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "zebra body myopathy", "equivalent_identifiers": ["MONDO:0019949", "orphanet:97240", "UMLS:C0270969", "SNOMEDCT:34513009", "medgen:543080", "icd11.foundation:1699813614"], "information_content": 100.0}
{"id": "MONDO:0020702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant epidermolytic ichthyosis", "equivalent_identifiers": ["MONDO:0020702", "orphanet:312", "NCIT:C62569"], "information_content": 89.4}
{"id": "HP:0100780", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conjunctival hamartoma", "equivalent_identifiers": ["HP:0100780", "UMLS:C4021849"], "information_content": 100.0}
{"id": "HP:0002339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal caudate nucleus morphology", "equivalent_identifiers": ["HP:0002339", "UMLS:C4025711"], "information_content": 87.2}
{"id": "HP:0007132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pallidal degeneration", "equivalent_identifiers": ["HP:0007132", "UMLS:C0393577", "SNOMEDCT:230302004"], "information_content": 100.0}
{"id": "HP:0031982", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal putamen morphology", "equivalent_identifiers": ["HP:0031982", "UMLS:C4732790"], "information_content": 89.4}
{"id": "MONDO:0016826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria and homocystinuria", "equivalent_identifiers": ["MONDO:0016826", "OMIM.PS:277400", "orphanet:26", "UMLS:C5848324", "MESH:C537359", "medgen:1864102"], "information_content": 87.2}
{"id": "HP:0012433", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal social behavior", "equivalent_identifiers": ["HP:0012433", "UMLS:C4020726", "UMLS:C4021087"], "information_content": 69.4}
{"id": "MONDO:0019951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rigid spine syndrome", "equivalent_identifiers": ["MONDO:0019951", "orphanet:97244", "MESH:C535683", "icd11.foundation:801727141"], "information_content": 92.8}
{"id": "HP:0030878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality on pulmonary function testing", "equivalent_identifiers": ["HP:0030878", "UMLS:C0476405", "UMLS:C4280728", "UMLS:C5539417", "MEDDRA:10025092", "MEDDRA:10025097", "MEDDRA:10029703", "MEDDRA:10037387", "MEDDRA:10061602", "SNOMEDCT:165019004"], "information_content": 76.7}
{"id": "MONDO:0017214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin B12-responsive methylmalonic acidemia", "equivalent_identifiers": ["MONDO:0017214", "orphanet:28", "UMLS:C0342720", "SNOMEDCT:69614003", "medgen:575193"], "information_content": 90.9}
{"id": "MONDO:0015403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-involuting congenital hemangioma", "equivalent_identifiers": ["MONDO:0015403", "orphanet:141179", "UMLS:C1275417", "NCIT:C172208", "SNOMEDCT:399973007", "SNOMEDCT:703295003", "medgen:698685"], "information_content": 100.0}
{"id": "HP:0031449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perineal hemangioma", "equivalent_identifiers": ["HP:0031449", "UMLS:C4531110"], "information_content": 100.0}
{"id": "HP:0100784", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral arteriovenous fistula", "equivalent_identifiers": ["HP:0100784", "UMLS:C4021971"], "information_content": 100.0}
{"id": "HP:0410266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visceral hemangioma", "equivalent_identifiers": ["HP:0410266", "UMLS:C5139438"], "information_content": 90.9}
{"id": "MONDO:0017615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign familial infantile epilepsy", "equivalent_identifiers": ["MONDO:0017615", "DOID:0060169", "OMIM.PS:601764", "orphanet:306", "UMLS:C5575231", "NCIT:C183308", "SNOMEDCT:1237571004", "SNOMEDCT:230410004", "medgen:1806836", "icd11.foundation:1944845279"], "information_content": 88.2}
{"id": "HP:0032678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eyelid myoclonia seizure", "equivalent_identifiers": ["HP:0032678", "UMLS:C5397689"], "information_content": 95.4}
{"id": "HP:0032823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal electro-clinical seizure with behavior arrest", "equivalent_identifiers": ["HP:0032823", "UMLS:C5397829"], "information_content": 100.0}
{"id": "HP:0032906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal head nodding automatism seizure", "equivalent_identifiers": ["HP:0032906", "UMLS:C5397911"], "information_content": 92.8}
{"id": "HP:0030089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal muscle fiber protein expression", "equivalent_identifiers": ["HP:0030089", "UMLS:C4022653"], "information_content": 74.9}
{"id": "MONDO:0015094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subependymal nodular heterotopia", "equivalent_identifiers": ["MONDO:0015094", "orphanet:101030", "UMLS:C3160906", "MEDDRA:10071150", "SNOMEDCT:699812002", "medgen:781340", "icd11.foundation:1752491379"], "information_content": 100.0}
{"id": "HP:0430005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ethmoid bone morphology", "equivalent_identifiers": ["HP:0430005", "UMLS:C4021869"], "information_content": 85.5}
{"id": "HP:0000290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal forehead morphology", "equivalent_identifiers": ["HP:0000290", "UMLS:C4025867"], "information_content": 73.8}
{"id": "HP:0012013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with temporal focal spike waves", "equivalent_identifiers": ["HP:0012013", "UMLS:C4023078"], "information_content": 100.0}
{"id": "HP:0031416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal mucus secretion", "equivalent_identifiers": ["HP:0031416", "UMLS:C4531028"], "information_content": 90.9}
{"id": "HP:0100579", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mucosal telangiectasiae", "equivalent_identifiers": ["HP:0100579", "UMLS:C4022020"], "information_content": 83.1}
{"id": "HP:0100958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow foramen obturatorium", "equivalent_identifiers": ["HP:0100958", "UMLS:C4021910"], "information_content": 100.0}
{"id": "MONDO:0009176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermodysplasia verruciformis", "equivalent_identifiers": ["MONDO:0009176", "DOID:13777", "orphanet:302", "UMLS:C0014522", "MESH:D004819", "MEDDRA:10052339", "MEDDRA:10052357", "NCIT:C126877", "SNOMEDCT:19138001", "medgen:41831", "icd11.foundation:1191479808"], "information_content": 86.3}
{"id": "MONDO:0018280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscle-eye-brain disease with bilateral multicystic leucodystrophy", "equivalent_identifiers": ["MONDO:0018280", "orphanet:370997", "UMLS:C5191414", "SNOMEDCT:785298001", "medgen:1675257"], "information_content": 100.0}
{"id": "MONDO:0018024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydroa vacciniforme", "equivalent_identifiers": ["MONDO:0018024", "orphanet:330058", "UMLS:C0020241", "MESH:D006837", "MEDDRA:10083442", "NCIT:C84766", "SNOMEDCT:200837006", "medgen:5661", "icd11.foundation:2053786485", "HP:0032381"], "information_content": 95.4}
{"id": "HP:0033700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papulovesicular eruption", "equivalent_identifiers": ["HP:0033700", "UMLS:C0234920", "MEDDRA:10033737", "MEDDRA:10033740", "MEDDRA:10037878", "MEDDRA:10037880", "SNOMEDCT:4538007"], "information_content": 100.0}
{"id": "HP:0031541", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear C3 deposits along the epidermal basement membrane zone", "equivalent_identifiers": ["HP:0031541", "UMLS:C4531055"], "information_content": 100.0}
{"id": "MONDO:0019137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-24-hour sleep-wake syndrome", "equivalent_identifiers": ["MONDO:0019137", "orphanet:73267", "UMLS:C0393772", "UMLS:C0751759", "MEDDRA:10078086", "SNOMEDCT:230496009", "medgen:148383"], "information_content": 100.0}
{"id": "HP:0012689", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pineal melatonin secretion", "equivalent_identifiers": ["HP:0012689", "UMLS:C4022777"], "information_content": 100.0}
{"id": "MONDO:0016453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foodborne botulism", "equivalent_identifiers": ["MONDO:0016453", "DOID:0050352", "orphanet:228371", "UMLS:C1739094", "NCIT:C128341", "SNOMEDCT:398523009", "medgen:320728", "icd11.foundation:2033726602"], "information_content": 100.0}
{"id": "HP:0010903", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating glutamine concentration", "equivalent_identifiers": ["HP:0010903", "UMLS:C4023663", "UMLS:C5139046"], "information_content": 88.2}
{"id": "HP:0000056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal clitoris morphology", "equivalent_identifiers": ["HP:0000056", "UMLS:C4025893"], "information_content": 81.3}
{"id": "HP:0000816", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of Krebs cycle metabolism", "equivalent_identifiers": ["HP:0000816", "UMLS:C4021795"], "information_content": 90.9}
{"id": "HP:0012401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine alpha-ketoglutarate concentration", "equivalent_identifiers": ["HP:0012401", "UMLS:C4020902"], "information_content": 92.8}
{"id": "MONDO:0017909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited glutathione synthetase deficiency", "equivalent_identifiers": ["MONDO:0017909", "DOID:0080699", "orphanet:32", "MESH:C536835", "NCIT:C128193", "SNOMEDCT:234589002"], "information_content": 92.8}
{"id": "HP:0002418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal midbrain morphology", "equivalent_identifiers": ["HP:0002418", "UMLS:C4021755"], "information_content": 69.5}
{"id": "HP:0011406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infancy onset short-trunk short stature", "equivalent_identifiers": ["HP:0011406", "UMLS:C1846061"], "information_content": 100.0}
{"id": "HP:0033447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating isovalerylcarnitine concentration", "equivalent_identifiers": ["HP:0033447", "UMLS:C5539600"], "information_content": 100.0}
{"id": "MONDO:0019945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "solar urticaria", "equivalent_identifiers": ["MONDO:0019945", "orphanet:97230", "UMLS:C0263610", "MESH:D000092130", "MEDDRA:10024467", "MEDDRA:10034943", "MEDDRA:10041307", "MEDDRA:10046748", "MEDDRA:10072973", "SNOMEDCT:10347006", "medgen:538004", "icd11.foundation:64163683", "HP:0410137"], "information_content": 100.0}
{"id": "HP:0030809", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tongue morphology", "equivalent_identifiers": ["HP:0030809", "UMLS:C4280755"], "information_content": 73.3}
{"id": "HP:0100326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Immunologic hypersensitivity", "equivalent_identifiers": ["HP:0100326", "UMLS:C0237653"], "information_content": 73.7}
{"id": "HP:0008978", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Necrotizing myopathy", "equivalent_identifiers": ["HP:0008978", "UMLS:C4024608"], "information_content": 100.0}
{"id": "HP:0025167", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fragmented elastic fibers in the dermis", "equivalent_identifiers": ["HP:0025167", "UMLS:C4476632"], "information_content": 100.0}
{"id": "MONDO:0015093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sub-cortical nodular heterotopia", "equivalent_identifiers": ["MONDO:0015093", "orphanet:101029", "UMLS:C5681805", "medgen:1843064", "icd11.foundation:1683302159"], "information_content": 100.0}
{"id": "HP:0002538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebral cortex morphology", "equivalent_identifiers": ["HP:0002538", "UMLS:C4025701"], "information_content": 61.4}
{"id": "MONDO:0015749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "6q16 deletion syndrome", "equivalent_identifiers": ["MONDO:0015749", "orphanet:171829", "UMLS:C5438727", "SNOMEDCT:1003380001", "medgen:1759989"], "information_content": 100.0}
{"id": "HP:0025160", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal temper tantrums", "equivalent_identifiers": ["HP:0025160", "UMLS:C4476625"], "information_content": 92.8}
{"id": "MONDO:0020527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopic Cushing syndrome", "equivalent_identifiers": ["MONDO:0020527", "DOID:0060890", "orphanet:99889", "icd11.foundation:1646144829", "ICD10:E24.3"], "information_content": 100.0}
{"id": "HP:0030200", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatiguable weakness of proximal limb muscles", "equivalent_identifiers": ["HP:0030200", "UMLS:C4022583"], "information_content": 100.0}
{"id": "HP:0025017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Capillary fragility", "equivalent_identifiers": ["HP:0025017", "UMLS:C0006905", "MEDDRA:10007191", "SNOMEDCT:248725002", "SNOMEDCT:248726001"], "information_content": 100.0}
{"id": "HP:0030348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating androgen concentration", "equivalent_identifiers": ["HP:0030348", "UMLS:C4072893"], "information_content": 89.4}
{"id": "MONDO:0002516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digestive system cancer", "equivalent_identifiers": ["MONDO:0002516", "DOID:3119", "UMLS:C0685938", "UMLS:C0751075", "MEDDRA:10017985", "MEDDRA:10018017", "MEDDRA:10018240", "NCIT:C4890", "SNOMEDCT:428905002", "SNOMEDCT:448675008", "medgen:148231", "ICD10:C26.9", "ICD9:239.0", "HP:0006749"], "information_content": 50.0}
{"id": "HP:0030446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical pulmonary carcinoid tumor", "equivalent_identifiers": ["HP:0030446", "UMLS:C4072942"], "information_content": 100.0}
{"id": "MONDO:0006041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung carcinoid tumor", "equivalent_identifiers": ["MONDO:0006041", "EFO:1000037", "UMLS:C0280089", "MEDDRA:10007282", "MEDDRA:10037342", "MEDDRA:10037343", "MEDDRA:10078174", "MEDDRA:10078183", "NCIT:C4038", "SNOMEDCT:254627002", "medgen:79070", "HP:0030445"], "information_content": 86.3}
{"id": "MONDO:0019035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatoblastoma", "equivalent_identifiers": ["MONDO:0019035", "DOID:6823", "orphanet:677", "EFO:1000446", "UMLS:C0334489", "MESH:C537162", "MEDDRA:10073367", "NCIT:C4265", "SNOMEDCT:189814006", "SNOMEDCT:53618008", "medgen:87250", "icd11.foundation:1310236105", "icd11.foundation:733863058", "HP:0100757"], "information_content": 95.4}
{"id": "MONDO:0018025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic actinic dermatitis", "equivalent_identifiers": ["MONDO:0018025", "orphanet:330064", "UMLS:C0282309", "SNOMEDCT:52636001", "medgen:76406", "icd11.foundation:248339081"], "information_content": 100.0}
{"id": "MONDO:0100164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "permanent neonatal diabetes mellitus", "equivalent_identifiers": ["MONDO:0100164", "DOID:0060639", "OMIM.PS:606176", "orphanet:99885", "UMLS:C1833104", "MESH:C563425", "NCIT:C114902", "SNOMEDCT:609565001", "medgen:371484", "icd11.foundation:33655955"], "information_content": 85.5}
{"id": "HP:0010935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the upper urinary tract", "equivalent_identifiers": ["HP:0010935", "UMLS:C4023641"], "information_content": 53.9}
{"id": "HP:0011106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypovolemia", "equivalent_identifiers": ["HP:0011106", "NCIT:C50595", "UMLS:C0546884", "MEDDRA:10021137", "MEDDRA:10021139", "MEDDRA:10047691", "SNOMEDCT:28560003", "SNOMEDCT:816082000", "MESH:D020896"], "information_content": 100.0}
{"id": "MONDO:0008891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "riboflavin transporter deficiency", "equivalent_identifiers": ["MONDO:0008891", "DOID:0050694", "OMIM.PS:211530", "orphanet:97229", "UMLS:C4551777", "MESH:C537111", "MEDDRA:10084089", "MEDDRA:10084093", "SNOMEDCT:699866005", "medgen:1634394"], "information_content": 88.2}
{"id": "HP:6000344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-intrinsic factor antibody positivity", "equivalent_identifiers": ["HP:6000344", "UMLS:C5937139"], "information_content": 100.0}
{"id": "MONDO:0018029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor XIII deficiency", "equivalent_identifiers": ["MONDO:0018029", "DOID:2211", "orphanet:331", "UMLS:C0015530", "MEDDRA:10016083", "NCIT:C131633", "NCIT:C98941", "SNOMEDCT:50189006", "medgen:4639"], "information_content": 90.9}
{"id": "HP:0030657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Umbilical cord hematoma", "equivalent_identifiers": ["HP:0030657", "UMLS:C0269855", "SNOMEDCT:86256001"], "information_content": 100.0}
{"id": "HP:0030140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral cavity bleeding", "equivalent_identifiers": ["HP:0030140", "UMLS:C4022608"], "information_content": 100.0}
{"id": "HP:0040232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Delayed onset bleeding", "equivalent_identifiers": ["HP:0040232", "UMLS:C4280712"], "information_content": 100.0}
{"id": "MONDO:0019171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial long QT syndrome", "equivalent_identifiers": ["MONDO:0019171", "OMIM.PS:192500", "orphanet:101016", "orphanet:768", "UMLS:C1141890", "MEDDRA:10057926", "SNOMEDCT:442917000", "medgen:685787", "icd11.foundation:1208831985"], "information_content": 78.5}
{"id": "HP:0500018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cardiac exercise stress test", "equivalent_identifiers": ["HP:0500018", "UMLS:C0853049", "UMLS:C4477077", "MEDDRA:10015653"], "information_content": 100.0}
{"id": "MONDO:0018278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy with intellectual disability", "equivalent_identifiers": ["MONDO:0018278", "orphanet:370968", "UMLS:C5190846", "SNOMEDCT:783174004", "medgen:1683413"], "information_content": 100.0}
{"id": "HP:0003549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of connective tissue", "equivalent_identifiers": ["HP:0003549", "UMLS:C4025596"], "information_content": 54.4}
{"id": "HP:0040173", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the tongue muscle", "equivalent_identifiers": ["HP:0040173", "UMLS:C4073139"], "information_content": 81.3}
{"id": "MONDO:0018054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial atrial fibrillation", "equivalent_identifiers": ["MONDO:0018054", "DOID:0050650", "OMIM.PS:608583", "orphanet:334", "UMLS:C3468561", "MEDDRA:10088317", "SNOMEDCT:715395008", "medgen:894635", "icd11.foundation:45855978"], "information_content": 80.6}
{"id": "HP:0003019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the wrist", "equivalent_identifiers": ["HP:0003019", "UMLS:C4021744"], "information_content": 69.7}
{"id": "HP:0025423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal larynx morphology", "equivalent_identifiers": ["HP:0025423", "UMLS:C4476768"], "information_content": 72.5}
{"id": "HP:0001026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Penetrating foot ulcers", "equivalent_identifiers": ["HP:0001026", "UMLS:C4025809"], "information_content": 100.0}
{"id": "orphanet:99880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperparathyroidism-jaw tumor syndrome", "equivalent_identifiers": ["orphanet:99880"]}
{"id": "HP:0011766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal parathyroid morphology", "equivalent_identifiers": ["HP:0011766", "UMLS:C4023199"], "information_content": 79.6}
{"id": "MONDO:0018710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly-severe kyphoscoliosis-overgrowth syndrome", "equivalent_identifiers": ["MONDO:0018710", "orphanet:457359", "UMLS:C5681123", "SNOMEDCT:1260143005", "medgen:1814470"], "information_content": 100.0}
{"id": "MONDO:0018442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acitretin/etretinate embryopathy", "equivalent_identifiers": ["MONDO:0018442", "orphanet:40366", "UMLS:C2931755", "UMLS:C4510941", "MESH:C538169", "SNOMEDCT:725287006", "SNOMEDCT:890202007", "medgen:1386157"], "information_content": 100.0}
{"id": "HP:0008058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the optic nerve", "equivalent_identifiers": ["HP:0008058", "UMLS:C4024743"], "information_content": 88.2}
{"id": "HP:0008364", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the calcaneus", "equivalent_identifiers": ["HP:0008364", "UMLS:C4024689"], "information_content": 85.5}
{"id": "HP:0006493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia involving bones of the lower limbs", "equivalent_identifiers": ["HP:0006493", "UMLS:C4025037"], "information_content": 66.0}
{"id": "HP:0006496", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia involving bones of the upper limbs", "equivalent_identifiers": ["HP:0006496", "UMLS:C4025035"], "information_content": 65.3}
{"id": "HP:0011290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with frontal sharp slow waves", "equivalent_identifiers": ["HP:0011290", "UMLS:C4023426"], "information_content": 100.0}
{"id": "HP:0010989", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the intrinsic pathway", "equivalent_identifiers": ["HP:0010989", "UMLS:C4023610"], "information_content": 79.6}
{"id": "MONDO:0015317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngotracheal angioma", "equivalent_identifiers": ["MONDO:0015317", "orphanet:137935", "UMLS:C3274531", "UMLS:C3839574", "NCIT:C99086", "SNOMEDCT:703199001", "medgen:825419"], "information_content": 100.0}
{"id": "HP:0030864", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intercostal retractions", "equivalent_identifiers": ["HP:0030864", "NCIT:C87087", "UMLS:C0425470", "MEDDRA:10022533", "SNOMEDCT:6442005"], "information_content": 100.0}
{"id": "orphanet:99879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial isolated hyperparathyroidism", "equivalent_identifiers": ["orphanet:99879"]}
{"id": "MONDO:0019944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eisenmenger syndrome", "equivalent_identifiers": ["MONDO:0019944", "orphanet:97214", "EFO:0009200", "UMLS:C0013743", "MESH:D004541", "MEDDRA:10058554", "NCIT:C84390", "SNOMEDCT:204311009", "SNOMEDCT:445928005", "medgen:4479", "icd11.foundation:581886860"], "information_content": 100.0}
{"id": "HP:0030849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatojugular reflux", "equivalent_identifiers": ["HP:0030849", "UMLS:C0239949", "MEDDRA:10051448", "SNOMEDCT:72196001"], "information_content": 100.0}
{"id": "HP:0031138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating B-type natriuretic peptide concentration", "equivalent_identifiers": ["HP:0031138", "UMLS:C4476997"], "information_content": 92.8}
{"id": "HP:0025328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antepartum hemorrhage", "equivalent_identifiers": ["HP:0025328", "NCIT:C114371", "UMLS:C0269608", "MEDDRA:10002667", "MEDDRA:10045632", "MEDDRA:10045633", "MEDDRA:10045634", "MEDDRA:10055228", "MEDDRA:10055879", "MEDDRA:10071784", "SNOMEDCT:34842007"], "information_content": 90.9}
{"id": "HP:0011854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemoperitoneum", "equivalent_identifiers": ["HP:0011854", "NCIT:C27138", "NCIT:C34680", "NCIT:C78372", "UMLS:C0019065", "UMLS:C0019066", "UMLS:C0236178", "UMLS:C0744735", "MEDDRA:10018935", "MEDDRA:10018984", "MEDDRA:10019518", "MEDDRA:10019555", "MEDDRA:10019576", "MEDDRA:10022729", "MEDDRA:10034666", "MEDDRA:10034667", "MEDDRA:10055268", "MEDDRA:10055291", "MEDDRA:10055818", "MEDDRA:10055835", "MEDDRA:10057706", "MEDDRA:10060473", "MEDDRA:10061249", "MEDDRA:10067674", "MEDDRA:10071826", "MEDDRA:10071861", "SNOMEDCT:443826006", "SNOMEDCT:45626005", "MESH:D006465"], "information_content": 85.5}
{"id": "HP:0500008", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornea verticillata", "equivalent_identifiers": ["HP:0500008", "UMLS:C1706559", "MEDDRA:10077604", "SNOMEDCT:420805002"], "information_content": 100.0}
{"id": "HP:0002823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal femur morphology", "equivalent_identifiers": ["HP:0002823", "UMLS:C4021750"], "information_content": 69.1}
{"id": "HP:0004306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal endocardium morphology", "equivalent_identifiers": ["HP:0004306", "UMLS:C4021662"], "information_content": 79.9}
{"id": "MONDO:0019133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0019133", "orphanet:73246", "UMLS:C4304402", "SNOMEDCT:719833004", "medgen:930071"], "information_content": 100.0}
{"id": "HP:0010881", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the umbilical cord", "equivalent_identifiers": ["HP:0010881", "UMLS:C0266785", "MEDDRA:10045446", "MEDDRA:10048596", "SNOMEDCT:90009001"], "information_content": 73.9}
{"id": "MONDO:0019132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome", "equivalent_identifiers": ["MONDO:0019132", "orphanet:73245", "UMLS:C4509964", "SNOMEDCT:723612001", "medgen:1393821"], "information_content": 100.0}
{"id": "HP:0012701", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowel urgency", "equivalent_identifiers": ["HP:0012701", "NCIT:C62788", "UMLS:C0426636", "MEDDRA:10012110", "MEDDRA:10012114", "MEDDRA:10048455", "SNOMEDCT:71820002"], "information_content": 100.0}
{"id": "orphanet:321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple osteochondromas", "equivalent_identifiers": ["orphanet:321"]}
{"id": "HP:0002763", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cartilage morphology", "equivalent_identifiers": ["HP:0002763", "UMLS:C4025680"], "information_content": 72.6}
{"id": "HP:0003959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed forearm bones", "equivalent_identifiers": ["HP:0003959", "UMLS:C4025479"], "information_content": 95.4}
{"id": "HP:0040069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lower limb bone morphology", "equivalent_identifiers": ["HP:0040069", "UMLS:C4022455", "UMLS:C4022457"], "information_content": 53.7}
{"id": "HP:0002991", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fibula morphology", "equivalent_identifiers": ["HP:0002991", "UMLS:C4025664"], "information_content": 77.8}
{"id": "HP:0002992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tibia morphology", "equivalent_identifiers": ["HP:0002992", "UMLS:C4025663"], "information_content": 74.9}
{"id": "HP:0030883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoroacetabular impingement", "equivalent_identifiers": ["HP:0030883", "UMLS:C2936290", "MEDDRA:10070899", "SNOMEDCT:432473000", "MESH:D057925"], "information_content": 100.0}
{"id": "HP:0032510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tendon pain", "equivalent_identifiers": ["HP:0032510", "UMLS:C0231529", "MEDDRA:10066371", "SNOMEDCT:21545007"], "information_content": 100.0}
{"id": "HP:0040071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of ulna", "equivalent_identifiers": ["HP:0040071", "UMLS:C4022453"], "information_content": 73.3}
{"id": "HP:0020110", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone fracture", "equivalent_identifiers": ["HP:0020110", "EFO:0003931", "NCIT:C3046", "UMLS:C0016658", "MEDDRA:10006381", "MEDDRA:10017076", "MEDDRA:10017077", "MEDDRA:10017089", "MEDDRA:10017322", "MEDDRA:10087528", "SNOMEDCT:125605004", "SNOMEDCT:72704001", "MESH:D050723"], "information_content": 68.1}
{"id": "HP:0031625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudoaneurysm", "equivalent_identifiers": ["HP:0031625", "EFO:1001265", "NCIT:C35843", "NCIT:C50711", "UMLS:C1510412", "UMLS:C1527161", "MEDDRA:10048975", "MEDDRA:10048977", "MEDDRA:10059128", "MEDDRA:10059431", "SNOMEDCT:22036004", "SNOMEDCT:443089001", "SNOMEDCT:58780002", "SNOMEDCT:895085001", "MESH:D017541"], "information_content": 100.0}
{"id": "HP:0040163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pelvis bone morphology", "equivalent_identifiers": ["HP:0040163", "UMLS:C4073132"], "information_content": 78.3}
{"id": "MONDO:0010082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onat syndrome", "equivalent_identifiers": ["MONDO:0010082", "OMIM:271960", "orphanet:3191", "UMLS:C0795947", "MESH:C537749", "SNOMEDCT:783096008", "medgen:167085"], "information_content": 100.0}
{"id": "HP:0005174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Membranous subvalvular aortic stenosis", "equivalent_identifiers": ["HP:0005174", "UMLS:C1848978"], "information_content": 100.0}
{"id": "HP:0008777", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vocal cord morphology", "equivalent_identifiers": ["HP:0008777", "UMLS:C0262665"], "information_content": 92.8}
{"id": "HP:0012603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine sodium concentration", "equivalent_identifiers": ["HP:0012603", "UMLS:C4022825"], "information_content": 87.2}
{"id": "HP:0025201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating apolipoprotein concentration", "equivalent_identifiers": ["HP:0025201", "UMLS:C4476649"], "information_content": 82.6}
{"id": "HP:0025022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased erythrocyte sedimentation rate", "equivalent_identifiers": ["HP:0025022", "UMLS:C0151631", "MEDDRA:10015261", "MEDDRA:10015265", "MEDDRA:10015272", "MEDDRA:10015479", "MEDDRA:10015481", "MEDDRA:10015484", "MEDDRA:10039903", "MEDDRA:10049188", "SNOMEDCT:165466008"], "information_content": 100.0}
{"id": "HP:0100712", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lumbar spine morphology", "equivalent_identifiers": ["HP:0100712", "UMLS:C4021988"], "information_content": 78.3}
{"id": "HP:0000309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal midface morphology", "equivalent_identifiers": ["HP:0000309", "UMLS:C4021811"], "information_content": 61.2}
{"id": "HP:0011452", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Functional abnormality of the middle ear", "equivalent_identifiers": ["HP:0011452", "UMLS:C4021846"], "information_content": 80.6}
{"id": "HP:0045086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Knee joint hypermobility", "equivalent_identifiers": ["HP:0045086", "UMLS:C0574978", "SNOMEDCT:298197005"], "information_content": 100.0}
{"id": "HP:0011867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal iliac wing morphology", "equivalent_identifiers": ["HP:0011867", "UMLS:C4023156"], "information_content": 84.8}
{"id": "HP:0004321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bladder fistula", "equivalent_identifiers": ["HP:0004321", "EFO:1001862", "NCIT:C79849", "UMLS:C0005690", "MEDDRA:10047363", "MEDDRA:10051263", "SNOMEDCT:68666001", "MESH:D001747"], "information_content": 89.4}
{"id": "MONDO:0004335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digestive system disorder", "equivalent_identifiers": ["MONDO:0004335", "DOID:77", "EFO:0000405", "UMLS:C0012242", "UMLS:C0017178", "UMLS:C4023588", "MESH:D004066", "MESH:D005767", "MEDDRA:10013225", "MEDDRA:10017876", "MEDDRA:10017922", "MEDDRA:10017944", "MEDDRA:10017945", "MEDDRA:10017947", "NCIT:C2990", "SNOMEDCT:119292006", "SNOMEDCT:53619000", "medgen:892790", "ICD10:K92.9", "ICD9:520-579.99", "HP:0011024"], "information_content": 46.7}
{"id": "HP:0025489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bladder duplication", "equivalent_identifiers": ["HP:0025489", "UMLS:C0238026"], "information_content": 100.0}
{"id": "HP:0030014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Female sexual dysfunction", "equivalent_identifiers": ["HP:0030014", "UMLS:C1112442", "MEDDRA:10057671"], "information_content": 87.2}
{"id": "MONDO:0018846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "penile agenesis", "equivalent_identifiers": ["MONDO:0018846", "orphanet:49", "UMLS:C0555231", "UMLS:C1387005", "UMLS:C4551491", "MESH:C536649", "MEDDRA:10087156", "NCIT:C99009", "SNOMEDCT:204908001", "SNOMEDCT:59981001", "medgen:278031", "HP:0030261"], "information_content": 92.8}
{"id": "HP:0040307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Male sexual dysfunction", "equivalent_identifiers": ["HP:0040307", "UMLS:C1112443"], "information_content": 84.2}
{"id": "MONDO:0016416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diphallia", "equivalent_identifiers": ["MONDO:0016416", "orphanet:227", "UMLS:C0345322", "SNOMEDCT:253851000", "medgen:450542", "icd11.foundation:1465839134", "HP:0100599"], "information_content": 100.0}
{"id": "MONDO:0019136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zygomycosis", "equivalent_identifiers": ["MONDO:0019136", "DOID:8485", "orphanet:73263", "EFO:0007380", "UMLS:C0026718", "UMLS:C0043541", "UMLS:C0300933", "MESH:D009091", "MESH:D020096", "MEDDRA:10028098", "MEDDRA:10048290", "MEDDRA:10061418", "NCIT:C77212", "SNOMEDCT:59277005", "SNOMEDCT:76627001", "medgen:12207", "icd11.foundation:1676389165"], "information_content": 90.9}
{"id": "HP:0032162", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unusual skin infection", "equivalent_identifiers": ["HP:0032162", "UMLS:C5139163"], "information_content": 87.2}
{"id": "HP:0011949", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute infectious pneumonia", "equivalent_identifiers": ["HP:0011949", "UMLS:C4023112"], "information_content": 100.0}
{"id": "HP:0032166", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unusual gastrointestinal infection", "equivalent_identifiers": ["HP:0032166", "UMLS:C5139165"], "information_content": 92.8}
{"id": "HP:0033661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Air crescent", "equivalent_identifiers": ["HP:0033661", "UMLS:C5539749"], "information_content": 100.0}
{"id": "HP:0032674", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous wound", "equivalent_identifiers": ["HP:0032674", "EFO:0005756", "UMLS:C0564444", "MEDDRA:10072170", "MEDDRA:10087831", "SNOMEDCT:262526004"], "information_content": 90.9}
{"id": "HP:0020101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Invasive fungal infection", "equivalent_identifiers": ["HP:0020101", "UMLS:C1262313", "MEDDRA:10062642", "SNOMEDCT:12391000132109", "MESH:D000072742"], "information_content": 95.4}
{"id": "MONDO:0002333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic abscess", "equivalent_identifiers": ["MONDO:0002333", "DOID:2530", "UMLS:C0272412", "MEDDRA:10041643", "NCIT:C35347", "SNOMEDCT:82053000", "medgen:124428", "ICD10:D73.3", "HP:0025059"], "information_content": 92.8}
{"id": "MONDO:0006948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal artery occlusion", "equivalent_identifiers": ["MONDO:0006948", "DOID:8483", "EFO:1001154", "UMLS:C0035302", "MESH:D015356", "MEDDRA:10030008", "MEDDRA:10038827", "NCIT:C34978", "SNOMEDCT:232035005", "medgen:11208", "HP:0025326"], "information_content": 89.4}
{"id": "MONDO:0007383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stern-Lubinsky-Durrie syndrome", "equivalent_identifiers": ["MONDO:0007383", "OMIM:122440", "orphanet:3194", "UMLS:C1852542", "UMLS:C2931506", "MESH:C536444", "MESH:C537488", "SNOMEDCT:723584003", "medgen:342260", "icd11.foundation:1754695879"], "information_content": 100.0}
{"id": "MONDO:0015028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "XXYY Syndrome", "equivalent_identifiers": ["MONDO:0015028", "orphanet:10", "UMLS:C2936741", "MEDDRA:10048230", "NCIT:C89801", "SNOMEDCT:403760006", "medgen:422434"], "information_content": 100.0}
{"id": "MONDO:0017904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "steroid dehydrogenase deficiency-dental anomalies syndrome", "equivalent_identifiers": ["MONDO:0017904", "orphanet:3196", "UMLS:C2931508", "MESH:C537490", "SNOMEDCT:723583009", "medgen:419431"], "information_content": 100.0}
{"id": "MONDO:0015228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pentasomy X", "equivalent_identifiers": ["MONDO:0015228", "orphanet:11", "UMLS:C0265497", "UMLS:C2937419", "MESH:C535319", "MEDDRA:10082382", "MEDDRA:10082711", "NCIT:C89802", "SNOMEDCT:43248007", "medgen:423649", "icd11.foundation:2087864894"], "information_content": 100.0}
{"id": "MONDO:0018633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "20q11.2 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018633", "orphanet:444051", "UMLS:C5680063", "SNOMEDCT:1229891004", "medgen:1810637"], "information_content": 100.0}
{"id": "MONDO:0021022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperekplexia", "equivalent_identifiers": ["MONDO:0021022", "DOID:0060695", "OMIM.PS:149400", "orphanet:3197", "UMLS:C1835614", "MESH:C538136", "SNOMEDCT:724351008", "medgen:332019", "icd11.foundation:988250063", "ICD10:G25.8"], "information_content": 88.2}
{"id": "MONDO:0019497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic genetic hearing loss", "equivalent_identifiers": ["MONDO:0019497", "DOID:0050563", "orphanet:87884", "EFO:0009076", "UMLS:C3711374", "UMLS:C5680182", "MESH:C580334", "SNOMEDCT:1260199008", "medgen:1830101", "icd11.foundation:1154032108"], "information_content": 65.2}
{"id": "HP:0012713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate hearing impairment", "equivalent_identifiers": ["HP:0012713", "UMLS:C4022757"], "information_content": 92.8}
{"id": "HP:0012714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe hearing impairment", "equivalent_identifiers": ["HP:0012714", "UMLS:C3874334", "SNOMEDCT:3561000119106"], "information_content": 92.8}
{"id": "HP:0010936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the lower urinary tract", "equivalent_identifiers": ["HP:0010936", "UMLS:C4023640"], "information_content": 65.5}
{"id": "HP:0032944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alkaline urine", "equivalent_identifiers": ["HP:0032944", "UMLS:C5397945"], "information_content": 100.0}
{"id": "HP:0011964", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermittent painful muscle spasms", "equivalent_identifiers": ["HP:0011964", "UMLS:C4023104"], "information_content": 100.0}
{"id": "MONDO:0018711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0018711", "orphanet:457365", "UMLS:C5681124", "SNOMEDCT:1208746001", "medgen:1805563"], "information_content": 100.0}
{"id": "HP:5000002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Amphiphysin antibody", "equivalent_identifiers": ["HP:5000002", "UMLS:C3203607", "MEDDRA:10071487", "MESH:C000718810"], "information_content": 100.0}
{"id": "HP:5000007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-DPPX antibody", "equivalent_identifiers": ["HP:5000007", "UMLS:C5558405"], "information_content": 100.0}
{"id": "HP:5000012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Gephyrin antibody", "equivalent_identifiers": ["HP:5000012", "UMLS:C5558410"], "information_content": 100.0}
{"id": "HP:5000014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-GlyR antibody", "equivalent_identifiers": ["HP:5000014", "UMLS:C5558411"], "information_content": 100.0}
{"id": "MONDO:1040033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy without intellectual disability", "equivalent_identifiers": ["MONDO:1040033", "orphanet:370980", "UMLS:C5190847", "SNOMEDCT:783175003", "medgen:1681503"], "information_content": 100.0}
{"id": "MONDO:0017858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythroleukemia", "equivalent_identifiers": ["MONDO:0017858", "DOID:0080780", "orphanet:318", "EFO:0000218", "EFO:1001955", "UMLS:C0023440", "MESH:D004915", "MEDDRA:10000739", "MEDDRA:10000740", "MEDDRA:10012593", "MEDDRA:10015245", "MEDDRA:10015249", "MEDDRA:10015281", "MEDDRA:10015282", "MEDDRA:10028579", "MEDDRA:10042799", "MEDDRA:10060401", "NCIT:C8923", "NCIT:C95993", "SNOMEDCT:14317002", "SNOMEDCT:93451002", "medgen:7316", "icd11.foundation:538743484", "icd11.foundation:631263622"], "information_content": 84.2}
{"id": "HP:0025035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal proerythroblast morphology", "equivalent_identifiers": ["HP:0025035", "UMLS:C4293689"], "information_content": 86.3}
{"id": "MONDO:0015074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid tumor", "equivalent_identifiers": ["MONDO:0015074", "orphanet:100087", "EFO:0003841", "UMLS:C0040136", "MESH:D013964", "MEDDRA:10029099", "MEDDRA:10043743", "MEDDRA:10043744", "MEDDRA:10043746", "MEDDRA:10043747", "MEDDRA:10066913", "MEDDRA:10066914", "NCIT:C3414", "SNOMEDCT:127018007", "medgen:21546", "HP:0100031"], "information_content": 61.9}
{"id": "HP:0100527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neoplasia of the pleura", "equivalent_identifiers": ["HP:0100527", "UMLS:C4022033"], "information_content": 92.8}
{"id": "MONDO:0017851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis", "equivalent_identifiers": ["MONDO:0017851", "DOID:0050467", "OMIM.PS:133200", "orphanet:308166", "orphanet:316", "orphanet:317", "UMLS:C0265961", "UMLS:C1851479", "MESH:C536154", "MESH:D056266", "MEDDRA:10049048", "NCIT:C84696", "SNOMEDCT:70041004", "medgen:75587", "icd11.foundation:551200965"], "information_content": 85.5}
{"id": "MONDO:0006451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type C thymoma", "equivalent_identifiers": ["MONDO:0006451", "DOID:3284", "DOID:4554", "orphanet:99868", "EFO:1000576", "UMLS:C0205969", "UMLS:C1322286", "UMLS:CN207411", "MEDDRA:10043673", "MEDDRA:10061031", "MEDDRA:10087220", "NCIT:C7569", "NCIT:C7612", "SNOMEDCT:128717008", "SNOMEDCT:15949004", "SNOMEDCT:444374006", "SNOMEDCT:444596001", "medgen:60049", "icd11.foundation:1351671383"], "information_content": 78.5}
{"id": "MONDO:0008743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stimmler syndrome", "equivalent_identifiers": ["MONDO:0008743", "OMIM:202900", "orphanet:3199", "UMLS:C1859965", "MESH:C565968", "SNOMEDCT:733072002", "medgen:348505"], "information_content": 100.0}
{"id": "MONDO:0017787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythroderma desquamativum", "equivalent_identifiers": ["MONDO:0017787", "orphanet:314", "UMLS:C2930920", "UMLS:C5551904", "MESH:C535512", "MEDDRA:10039790", "MEDDRA:10058251", "SNOMEDCT:7297005", "medgen:1790529"], "information_content": 100.0}
{"id": "MONDO:0017778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lamellar ichthyosis", "equivalent_identifiers": ["MONDO:0017778", "orphanet:313", "UMLS:C5848247", "MEDDRA:10009926", "MEDDRA:10023686", "NCIT:C84805", "medgen:1852191", "icd11.foundation:600146417"], "information_content": 86.3}
{"id": "MONDO:0015404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rapidly involuting congenital hemangioma", "equivalent_identifiers": ["MONDO:0015404", "DOID:0080895", "orphanet:141184", "UMLS:C1275421", "NCIT:C172207", "SNOMEDCT:400162006", "SNOMEDCT:703294004", "medgen:698687"], "information_content": 100.0}
{"id": "MONDO:0044621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "16p12.1p12.3 triplication syndrome", "equivalent_identifiers": ["MONDO:0044621", "orphanet:485405", "UMLS:C5680097", "SNOMEDCT:1251450006", "medgen:1814451"], "information_content": 100.0}
{"id": "HP:0011040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal intrahepatic bile duct morphology", "equivalent_identifiers": ["HP:0011040", "UMLS:C4023577"], "information_content": 83.1}
{"id": "MONDO:0019134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurocytoma", "equivalent_identifiers": ["MONDO:0019134", "DOID:14174", "orphanet:73256", "EFO:1000856", "UMLS:C0206719", "UMLS:C1622510", "MESH:D018306", "MEDDRA:10063564", "NCIT:C3791", "SNOMEDCT:128858006", "medgen:104924", "icd11.foundation:1247650801", "icd11.foundation:2039766091", "HP:0030064"], "information_content": 100.0}
{"id": "HP:0025354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cellular phenotype", "equivalent_identifiers": ["HP:0025354", "UMLS:C4476724"], "information_content": 39.7}
{"id": "HP:0030047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lateral ventricle morphology", "equivalent_identifiers": ["HP:0030047", "UMLS:C4022662"], "information_content": 82.6}
{"id": "MONDO:0017836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratoderma en cocardes", "equivalent_identifiers": ["MONDO:0017836", "orphanet:315", "UMLS:C5848050", "SNOMEDCT:239062001", "medgen:1845700"], "information_content": 100.0}
{"id": "MONDO:0010801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocamptodactyly syndrome", "equivalent_identifiers": ["MONDO:0010801", "OMIM:600000", "orphanet:3180", "UMLS:C1838781", "UMLS:C4274762", "MESH:C535779", "SNOMEDCT:716231009", "medgen:325510"], "information_content": 100.0}
{"id": "MONDO:0006976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "somatostatinoma", "equivalent_identifiers": ["MONDO:0006976", "DOID:4430", "orphanet:97283", "EFO:1001187", "UMLS:C0037661", "MESH:D013005", "MEDDRA:10041329", "NCIT:C3379", "SNOMEDCT:253006001", "medgen:52416", "icd11.foundation:219879696"], "information_content": 85.5}
{"id": "MONDO:0004251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small intestine neoplasm", "equivalent_identifiers": ["MONDO:0004251", "DOID:7505", "UMLS:C0345832", "MEDDRA:10085929", "NCIT:C4432", "SNOMEDCT:126832004", "medgen:91055", "HP:0100833"], "information_content": 66.1}
{"id": "MONDO:0006757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extrahepatic cholestasis", "equivalent_identifiers": ["MONDO:0006757", "DOID:13619", "EFO:1000933", "UMLS:C0005398", "MESH:D001651", "MEDDRA:10008637", "MEDDRA:10015819", "NCIT:C34420", "SNOMEDCT:20719006", "SNOMEDCT:8262006", "medgen:2241", "HP:0012334"], "information_content": 95.4}
{"id": "HP:0030145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lack of bowel sounds", "equivalent_identifiers": ["HP:0030145", "UMLS:C4022606"], "information_content": 100.0}
{"id": "MONDO:0019960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VIPoma", "equivalent_identifiers": ["MONDO:0019960", "DOID:5574", "orphanet:97282", "EFO:1000622", "UMLS:C0011993", "MESH:D003969", "MEDDRA:10047430", "NCIT:C26749", "SNOMEDCT:253005002", "medgen:41532", "icd11.foundation:20634476"], "information_content": 88.2}
{"id": "HP:0030895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal gastrointestinal motility", "equivalent_identifiers": ["HP:0030895", "UMLS:C2749202"], "information_content": 79.3}
{"id": "MONDO:0024477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver neoplasm", "equivalent_identifiers": ["MONDO:0024477", "DOID:916", "EFO:1001513", "UMLS:C0023903", "UMLS:C1333419", "UMLS:C1333976", "MESH:D008113", "MEDDRA:10019694", "MEDDRA:10019695", "MEDDRA:10019702", "MEDDRA:10024702", "MEDDRA:10024717", "MEDDRA:10024718", "MEDDRA:10024719", "MEDDRA:10028996", "MEDDRA:10045151", "MEDDRA:10073830", "MEDDRA:10073831", "NCIT:C7103", "NCIT:C7106", "SNOMEDCT:126851005", "medgen:232599", "ICD10:C22", "HP:0002896"], "information_content": 60.4}
{"id": "MONDO:0019963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchial endocrine tumor", "equivalent_identifiers": ["MONDO:0019963", "orphanet:97287"], "information_content": 100.0}
{"id": "HP:0001005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dermatological manifestations of systemic disorders", "equivalent_identifiers": ["HP:0001005", "UMLS:C4025812"], "information_content": 80.2}
{"id": "HP:0031566", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulmonary valve cusp morphology", "equivalent_identifiers": ["HP:0031566", "UMLS:C4531035"], "information_content": 92.8}
{"id": "orphanet:97286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney-Stratakis syndrome", "equivalent_identifiers": ["orphanet:97286"]}
{"id": "HP:0100542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal localization of kidney", "equivalent_identifiers": ["HP:0100542", "UMLS:C4020968"], "information_content": 81.7}
{"id": "MONDO:0019962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid lymphoma", "equivalent_identifiers": ["MONDO:0019962", "DOID:10011", "orphanet:97285", "UMLS:C1336753", "NCIT:C5265", "SNOMEDCT:278051002", "medgen:234947", "icd11.foundation:571063415"], "information_content": 87.2}
{"id": "MONDO:0018248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-seizures-macrocephaly-obesity syndrome", "equivalent_identifiers": ["MONDO:0018248", "orphanet:369950", "UMLS:C4749455", "SNOMEDCT:770750002", "medgen:1650833"], "information_content": 100.0}
{"id": "HP:0012680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the pineal gland", "equivalent_identifiers": ["HP:0012680", "UMLS:C4022783"], "information_content": 80.9}
{"id": "HP:0100561", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal cord lesion", "equivalent_identifiers": ["HP:0100561", "UMLS:C0241224", "SNOMEDCT:1236751004"], "information_content": 87.2}
{"id": "HP:0002921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebrospinal fluid morphology", "equivalent_identifiers": ["HP:0002921", "UMLS:C0151583", "MEDDRA:10008147", "MEDDRA:10011515", "MEDDRA:10011516", "MEDDRA:10011517", "MEDDRA:10029674"], "information_content": 64.3}
{"id": "HP:0012898", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lower-limb motor evoked potentials", "equivalent_identifiers": ["HP:0012898", "UMLS:C4021058"], "information_content": 100.0}
{"id": "MONDO:0010575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0010575", "OMIM:304350", "orphanet:90646", "UMLS:C1844680", "MESH:C564435", "SNOMEDCT:718714006", "medgen:335003"], "information_content": 100.0}
{"id": "HP:0100503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating vitamin B1 concentration", "equivalent_identifiers": ["HP:0100503", "UMLS:C0039841", "UMLS:C5886738", "MEDDRA:10047601", "SNOMEDCT:399357009", "MESH:D013832"], "information_content": 100.0}
{"id": "HP:0011384", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the internal auditory canal", "equivalent_identifiers": ["HP:0011384", "UMLS:C4021155"], "information_content": 89.4}
{"id": "HP:0011388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged cochlear aqueduct", "equivalent_identifiers": ["HP:0011388", "UMLS:C4021154"], "information_content": 90.9}
{"id": "HP:0012717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe conductive hearing impairment", "equivalent_identifiers": ["HP:0012717", "UMLS:C4021074"], "information_content": 100.0}
{"id": "MONDO:0002441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jervell and Lange-Nielsen syndrome", "equivalent_identifiers": ["MONDO:0002441", "DOID:2842", "OMIM.PS:220400", "orphanet:90647", "UMLS:C0022387", "MESH:D029593", "MEDDRA:10057936", "NCIT:C84793", "SNOMEDCT:373905003", "medgen:5929"], "information_content": 92.8}
{"id": "MONDO:0017865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital pulmonary valve stenosis", "equivalent_identifiers": ["MONDO:0017865", "orphanet:3189", "UMLS:C0162164", "MEDDRA:10010603", "MEDDRA:10037451", "MEDDRA:10041991", "NCIT:C197884", "SNOMEDCT:67278007", "medgen:511533", "icd11.foundation:353180069"], "information_content": 89.4}
{"id": "MONDO:0005048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "insulinoma", "equivalent_identifiers": ["MONDO:0005048", "orphanet:97279", "EFO:0000549", "UMLS:C5848150", "NCIT:C3140", "medgen:1844884"], "information_content": 90.9}
{"id": "MONDO:0001617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient global amnesia", "equivalent_identifiers": ["MONDO:0001617", "DOID:13027", "UMLS:C0338591", "MESH:D020236", "MEDDRA:10044380", "NCIT:C85198", "SNOMEDCT:230736007", "medgen:83275", "icd11.foundation:1524600518", "ICD10:G45.4", "ICD9:437.7", "HP:0010534"], "information_content": 100.0}
{"id": "MONDO:0021227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal gland neoplasm", "equivalent_identifiers": ["MONDO:0021227", "orphanet:100091", "EFO:0003850", "UMLS:C0001624", "MEDDRA:10001375", "MEDDRA:10001376", "MEDDRA:10028981", "MEDDRA:10061588", "NCIT:C2859", "SNOMEDCT:127021009", "medgen:1352", "HP:0100631"], "information_content": 67.6}
{"id": "MONDO:0019957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PPoma", "equivalent_identifiers": ["MONDO:0019957", "orphanet:97278", "UMLS:C0346407", "NCIT:C67453", "SNOMEDCT:255039001", "medgen:577392", "icd11.foundation:1180851464"], "information_content": 100.0}
{"id": "MONDO:0031257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "high altitude pulmonary edema", "equivalent_identifiers": ["MONDO:0031257", "orphanet:330012", "UMLS:C0340100", "SNOMEDCT:233707008", "medgen:137935"], "information_content": 95.4}
{"id": "HP:0031457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary opacity", "equivalent_identifiers": ["HP:0031457", "UMLS:C4531104"], "information_content": 84.8}
{"id": "HP:0032016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sputum", "equivalent_identifiers": ["HP:0032016", "UMLS:C0159054", "MEDDRA:10000180", "MEDDRA:10041803", "MEDDRA:10060991", "SNOMEDCT:167986000", "SNOMEDCT:274708000"], "information_content": 72.9}
{"id": "MONDO:0018019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lead poisoning", "equivalent_identifiers": ["MONDO:0018019", "orphanet:330015", "UMLS:C0023176", "MESH:D007855", "MEDDRA:10024083", "MEDDRA:10039504", "MEDDRA:10044215", "NCIT:C34761", "SNOMEDCT:1145155005", "SNOMEDCT:38342005"], "information_content": 100.0}
{"id": "HP:0005368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of humoral immunity", "equivalent_identifiers": ["HP:0005368", "UMLS:C3150510"], "information_content": 63.9}
{"id": "HP:0030018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased female libido", "equivalent_identifiers": ["HP:0030018", "UMLS:C4022676"], "information_content": 100.0}
{"id": "HP:0040306", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased male libido", "equivalent_identifiers": ["HP:0040306", "UMLS:C4477042"], "information_content": 100.0}
{"id": "MONDO:0018247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CADDS", "equivalent_identifiers": ["MONDO:0018247", "orphanet:369942"], "information_content": 100.0}
{"id": "orphanet:370959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital muscular dystrophy with cerebellar involvement", "equivalent_identifiers": ["orphanet:370959"]}
{"id": "MONDO:0017852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile spasms-broad thumbs syndrome", "equivalent_identifiers": ["MONDO:0017852", "orphanet:3173", "UMLS:C4749287", "SNOMEDCT:770438007", "medgen:1667345"], "information_content": 100.0}
{"id": "HP:0000235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cranial suture/fontanelle morphology", "equivalent_identifiers": ["HP:0000235", "UMLS:C4025876"], "information_content": 69.3}
{"id": "HP:0100672", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal hernia", "equivalent_identifiers": ["HP:0100672", "UMLS:C1442998", "MEDDRA:10059450", "MEDDRA:10059457", "SNOMEDCT:397786004"], "information_content": 90.9}
{"id": "MONDO:0017856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked spasticity-intellectual disability-epilepsy syndrome", "equivalent_identifiers": ["MONDO:0017856", "orphanet:3175", "UMLS:C4510949", "SNOMEDCT:725163002", "medgen:1376165"], "information_content": 100.0}
{"id": "HP:0011740", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glucocortocoid-insensitive primary hyperaldosteronism", "equivalent_identifiers": ["HP:0011740", "UMLS:C4020742", "UMLS:C4023208"], "information_content": 100.0}
{"id": "HP:0031274", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypovolemic shock", "equivalent_identifiers": ["HP:0031274", "NCIT:C50596", "UMLS:C0020683", "MEDDRA:10021138", "MEDDRA:10021140", "SNOMEDCT:39419009"], "information_content": 100.0}
{"id": "orphanet:280195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Septopreoptic holoprosencephaly", "equivalent_identifiers": ["orphanet:280195"]}
{"id": "MONDO:0037149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HSD10 disease, atypical type", "equivalent_identifiers": ["MONDO:0037149", "orphanet:85295", "UMLS:C5680206", "medgen:1843277"], "information_content": 100.0}
{"id": "MONDO:0010529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked spinocerebellar ataxia type 3", "equivalent_identifiers": ["MONDO:0010529", "DOID:0111831", "OMIM:301790", "orphanet:85297", "UMLS:C1844936", "MESH:C537315", "SNOMEDCT:719817002", "medgen:337124", "icd11.foundation:261426817"], "information_content": 100.0}
{"id": "MONDO:0010534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked spinocerebellar ataxia type 4", "equivalent_identifiers": ["MONDO:0010534", "DOID:0111832", "OMIM:301840", "orphanet:85292", "UMLS:C1844933", "MESH:C537316", "SNOMEDCT:719818007", "medgen:337122", "icd11.foundation:1033689736"], "information_content": 100.0}
{"id": "MONDO:0017857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spina bifida-hypospadias syndrome", "equivalent_identifiers": ["MONDO:0017857", "orphanet:3176", "UMLS:C4706660", "SNOMEDCT:763889002", "medgen:1638294"], "information_content": 100.0}
{"id": "MONDO:0018020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mercury poisoning", "equivalent_identifiers": ["MONDO:0018020", "orphanet:330021", "EFO:1001810", "UMLS:C0025427", "MESH:D008630", "MEDDRA:10063573", "SNOMEDCT:767299002", "SNOMEDCT:85180002"], "information_content": 100.0}
{"id": "HP:0010814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal position of hair whorl", "equivalent_identifiers": ["HP:0010814", "UMLS:C4023694"], "information_content": 100.0}
{"id": "MONDO:0019955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GRFoma", "equivalent_identifiers": ["MONDO:0019955", "orphanet:97261", "UMLS:C0346406", "medgen:577391", "icd11.foundation:1245945716"], "information_content": 100.0}
{"id": "MONDO:0017844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sezary syndrome", "equivalent_identifiers": ["MONDO:0017844", "DOID:8541", "orphanet:3162", "EFO:1000785", "UMLS:C0036920", "MESH:D012751", "MEDDRA:10040493", "MEDDRA:10040500", "MEDDRA:10040516", "NCIT:C3366", "SNOMEDCT:118611004", "SNOMEDCT:4950009", "medgen:19959", "icd11.foundation:1358020385", "ICD10:C84.1", "ICD9:202.2"], "information_content": 89.4}
{"id": "MONDO:0015758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary cutaneous T-cell lymphoma", "equivalent_identifiers": ["MONDO:0015758", "orphanet:171901", "UMLS:C0079773", "MEDDRA:10011677", "SNOMEDCT:1162973007", "SNOMEDCT:1187136005", "SNOMEDCT:28054005", "SNOMEDCT:400122007", "medgen:36336", "HP:0012192"], "information_content": 81.7}
{"id": "HP:0011339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of upper lip vermillion", "equivalent_identifiers": ["HP:0011339", "UMLS:C4023406"], "information_content": 84.8}
{"id": "HP:0010668", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal zygomatic bone morphology", "equivalent_identifiers": ["HP:0010668", "UMLS:C4023749"], "information_content": 79.9}
{"id": "MONDO:0035592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital infiltrating lipomatosis of the face", "equivalent_identifiers": ["MONDO:0035592", "orphanet:583097", "UMLS:C5680341", "SNOMEDCT:1251402007", "medgen:1814459", "icd11.foundation:1669603167"], "information_content": 100.0}
{"id": "MONDO:0003307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mucosal neuroma", "equivalent_identifiers": ["MONDO:0003307", "DOID:5155", "UMLS:C0878627", "UMLS:C1334828", "NCIT:C6559", "medgen:233722", "HP:0031023"], "information_content": 100.0}
{"id": "MONDO:0015803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wound botulism", "equivalent_identifiers": ["MONDO:0015803", "DOID:0050353", "orphanet:178475", "UMLS:C1306794", "NCIT:C128342", "SNOMEDCT:398530003", "medgen:224933", "icd11.foundation:1674998448"], "information_content": 100.0}
{"id": "MONDO:0015804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infant botulism", "equivalent_identifiers": ["MONDO:0015804", "DOID:0050354", "orphanet:178478", "UMLS:C0238027", "NCIT:C128343", "SNOMEDCT:414488002", "medgen:68649"], "information_content": 100.0}
{"id": "MONDO:0019414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BRESEK syndrome", "equivalent_identifiers": ["MONDO:0019414", "orphanet:85284", "UMLS:C3502469", "MESH:C564519", "SNOMEDCT:717945001", "medgen:502868"], "information_content": 100.0}
{"id": "HP:0030293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibular metaphyseal irregularity", "equivalent_identifiers": ["HP:0030293", "UMLS:C4022532"], "information_content": 100.0}
{"id": "HP:0030427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ossifying fibroma of the jaw", "equivalent_identifiers": ["HP:0030427", "EFO:0009913", "UMLS:C4072940"], "information_content": 100.0}
{"id": "MONDO:0015751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome", "equivalent_identifiers": ["MONDO:0015751", "orphanet:171839", "UMLS:C3267187", "MEDDRA:10072239", "SNOMEDCT:720815000", "medgen:923699"], "information_content": 100.0}
{"id": "MONDO:0010729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Schimke type", "equivalent_identifiers": ["MONDO:0010729", "OMIM:312840", "orphanet:85285", "UMLS:C1839320", "UMLS:C4305027", "MESH:C536630", "SNOMEDCT:719010001", "medgen:374193"], "information_content": 100.0}
{"id": "HP:0001879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eosinophil morphology", "equivalent_identifiers": ["HP:0001879", "UMLS:C0855999", "UMLS:C4025738", "MEDDRA:10014948", "MEDDRA:10061843"], "information_content": 76.2}
{"id": "HP:0100748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscular edema", "equivalent_identifiers": ["HP:0100748", "UMLS:C4021979"], "information_content": 100.0}
{"id": "HP:0040320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Red-brown urine", "equivalent_identifiers": ["HP:0040320", "UMLS:C4477046"], "information_content": 100.0}
{"id": "HP:0012380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced tissue carnitine O-palmitoyltransferase 2 activity", "equivalent_identifiers": ["HP:0012380", "UMLS:C4022921"], "information_content": 100.0}
{"id": "HP:0040416", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urinary nitrogen compound level", "equivalent_identifiers": ["HP:0040416", "UMLS:C5936787"], "information_content": 89.4}
{"id": "HP:6000482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating catecholamine concentration", "equivalent_identifiers": ["HP:6000482", "UMLS:C5937250"], "information_content": 100.0}
{"id": "MONDO:0007227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sillence syndrome", "equivalent_identifiers": ["MONDO:0007227", "OMIM:113450", "orphanet:3168", "UMLS:C1862092", "MESH:C537338", "SNOMEDCT:732956000", "medgen:354659"], "information_content": 100.0}
{"id": "HP:0009832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal distal phalanx morphology of finger", "equivalent_identifiers": ["HP:0009832", "UMLS:C4021385"], "information_content": 65.9}
{"id": "HP:0009834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal proximal phalanx morphology of the hand", "equivalent_identifiers": ["HP:0009834", "UMLS:C4024190"], "information_content": 65.3}
{"id": "HP:0010052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the proximal phalanx of the hallux", "equivalent_identifiers": ["HP:0010052", "UMLS:C4024084"], "information_content": 77.8}
{"id": "HP:0006170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chess-pawn distal phalanges", "equivalent_identifiers": ["HP:0006170", "UMLS:C1862097"], "information_content": 100.0}
{"id": "MONDO:0017850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sirenomelia", "equivalent_identifiers": ["MONDO:0017850", "orphanet:3169", "UMLS:C0037205", "MEDDRA:10049216", "MEDDRA:10072457", "MEDDRA:10072464", "NCIT:C118455", "SNOMEDCT:253191000", "SNOMEDCT:67254002", "SNOMEDCT:723973002", "SNOMEDCT:91089008", "medgen:52357", "icd11.foundation:473306797", "HP:0010497"], "information_content": 100.0}
{"id": "MONDO:0018273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "XYLT1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0018273", "orphanet:370930", "UMLS:C4750849", "SNOMEDCT:773418007", "medgen:1659170"], "information_content": 100.0}
{"id": "HP:0007199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive spastic paraparesis", "equivalent_identifiers": ["HP:0007199", "UMLS:C0747251"], "information_content": 100.0}
{"id": "orphanet:555874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital tricuspid valve dysplasia", "equivalent_identifiers": ["orphanet:555874"]}
{"id": "HP:0031441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tricuspid valve annulus morphology", "equivalent_identifiers": ["HP:0031441", "UMLS:C4531117"], "information_content": 95.4}
{"id": "HP:0031443", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tricuspid valve leaflet morphology", "equivalent_identifiers": ["HP:0031443", "UMLS:C4531115"], "information_content": 100.0}
{"id": "MONDO:0017837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome", "equivalent_identifiers": ["MONDO:0017837", "orphanet:3151", "UMLS:C4518551", "SNOMEDCT:733028000", "medgen:1391655"], "information_content": 100.0}
{"id": "HP:0001881", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal leukocyte morphology", "equivalent_identifiers": ["HP:0001881", "UMLS:C0152009", "MEDDRA:10024376", "MEDDRA:10047855", "MEDDRA:10047856", "MEDDRA:10047935", "SNOMEDCT:134199001", "SNOMEDCT:24827003"], "information_content": 55.7}
{"id": "MONDO:0017838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sclerosteosis", "equivalent_identifiers": ["MONDO:0017838", "DOID:0060251", "OMIM.PS:269500", "orphanet:3152", "UMLS:C0265301", "MESH:C537525", "NCIT:C131133", "SNOMEDCT:17568006", "medgen:120530", "icd11.foundation:371637416"], "information_content": 92.8}
{"id": "HP:0009838", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curved distal phalanges of the hand", "equivalent_identifiers": ["HP:0009838", "UMLS:C4024188", "SNOMEDCT:897224005"], "information_content": 88.2}
{"id": "HP:0031501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelvic mass", "equivalent_identifiers": ["HP:0031501", "NCIT:C151938", "UMLS:C0347944", "MEDDRA:10026869", "MEDDRA:10034260", "SNOMEDCT:74285003"], "information_content": 100.0}
{"id": "MONDO:0002345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervicitis", "equivalent_identifiers": ["MONDO:0002345", "DOID:2568", "UMLS:C0007860", "UMLS:C0007861", "MESH:D002575", "MEDDRA:10008323", "MEDDRA:10008331", "MEDDRA:10068402", "NCIT:C26716", "SNOMEDCT:198199009", "SNOMEDCT:37610005", "medgen:3338", "icd11.foundation:1433247301", "ICD10:N72", "ICD9:616.0", "HP:0030160"], "information_content": 86.3}
{"id": "HP:0100674", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal hematocele", "equivalent_identifiers": ["HP:0100674", "UMLS:C1456401"], "information_content": 100.0}
{"id": "MONDO:0019008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign recurrent intrahepatic cholestasis", "equivalent_identifiers": ["MONDO:0019008", "DOID:0070230", "OMIM.PS:243300", "orphanet:65682", "UMLS:C0149841", "MEDDRA:10087038", "NCIT:C84402", "SNOMEDCT:31155007", "medgen:57703", "icd11.foundation:288945286"], "information_content": 90.9}
{"id": "MONDO:0019009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated focal cortical dysplasia", "equivalent_identifiers": ["MONDO:0019009", "orphanet:65683", "UMLS:C4707795", "SNOMEDCT:766710005", "medgen:1645432"], "information_content": 86.3}
{"id": "HP:0012757", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal neuron morphology", "equivalent_identifiers": ["HP:0012757", "UMLS:C4022739"], "information_content": 55.1}
{"id": "MONDO:0016729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed neuronal-glial tumor", "equivalent_identifiers": ["MONDO:0016729", "orphanet:251934", "UMLS:C0474844", "MEDDRA:10068601", "MEDDRA:10068602", "NCIT:C4747", "SNOMEDCT:302831000", "medgen:105377", "icd11.foundation:1792897751", "HP:0025170"], "information_content": 74.9}
{"id": "HP:0002817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the upper limb", "equivalent_identifiers": ["HP:0002817", "UMLS:C4020900"], "information_content": 50.4}
{"id": "MONDO:0015806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult intestinal botulism", "equivalent_identifiers": ["MONDO:0015806", "orphanet:178487", "UMLS:C4289991", "NCIT:C128344", "SNOMEDCT:1285577000", "medgen:927523", "icd11.foundation:1601222948"], "information_content": 100.0}
{"id": "MONDO:0015805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal botulism", "equivalent_identifiers": ["MONDO:0015805", "DOID:0050141", "orphanet:178481", "UMLS:C1443901", "SNOMEDCT:409563004", "medgen:731170"], "information_content": 92.8}
{"id": "MONDO:0012907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blindness - scoliosis - arachnodactyly syndrome", "equivalent_identifiers": ["MONDO:0012907", "OMIM:612445", "orphanet:171844", "UMLS:C2676234", "UMLS:C4303548", "MESH:C567309", "SNOMEDCT:717920004", "medgen:436640"], "information_content": 100.0}
{"id": "HP:0004323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of body weight", "equivalent_identifiers": ["HP:0004323", "UMLS:C0878621", "UMLS:C4025357"], "information_content": 66.9}
{"id": "MONDO:0017842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome", "equivalent_identifiers": ["MONDO:0017842", "DOID:0050576", "OMIM.PS:266900", "orphanet:3156", "UMLS:C0403553", "MESH:C537580", "MEDDRA:10084074", "NCIT:C168588", "medgen:96045", "icd11.foundation:1975732692", "ICD10:Q61.5"], "information_content": 84.8}
{"id": "HP:0004348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of bone mineral density", "equivalent_identifiers": ["HP:0004348", "UMLS:C4021657"], "information_content": 60.0}
{"id": "MONDO:0019111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial thrombocytosis", "equivalent_identifiers": ["MONDO:0019111", "OMIM.PS:187950", "orphanet:71493", "UMLS:C4303761", "SNOMEDCT:720950009", "medgen:929430", "icd11.foundation:1695088249"], "information_content": 90.9}
{"id": "MONDO:0017979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome", "equivalent_identifiers": ["MONDO:0017979", "DOID:6688", "orphanet:3261", "MESH:D056735", "NCIT:C37864", "icd11.foundation:1072688797", "ICD10:D89.82", "ICD9:279.41"], "information_content": 79.6}
{"id": "HP:0011117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating interleukin concentration", "equivalent_identifiers": ["HP:0011117", "UMLS:C4023530"], "information_content": 76.4}
{"id": "HP:0030886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal T cell apoptosis", "equivalent_identifiers": ["HP:0030886", "UMLS:C4280725"], "information_content": 90.9}
{"id": "HP:6000016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating vitamin B12 concentration", "equivalent_identifiers": ["HP:6000016", "UMLS:C5936908"], "information_content": 100.0}
{"id": "HP:6000017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating soluble FASL concentration", "equivalent_identifiers": ["HP:6000017", "UMLS:C5936909"], "information_content": 100.0}
{"id": "MONDO:0021240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tongue neoplasm", "equivalent_identifiers": ["MONDO:0021240", "EFO:0003871", "UMLS:C0040411", "MEDDRA:10051830", "MEDDRA:10062129", "NCIT:C3416", "SNOMEDCT:126778001", "medgen:52778", "HP:0100648"], "information_content": 75.8}
{"id": "MONDO:0019375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "equivalent_identifiers": ["MONDO:0019375", "OMIM.PS:603387", "orphanet:83473", "UMLS:C4302893", "SNOMEDCT:722036008", "medgen:928562"], "information_content": 90.9}
{"id": "HP:0030872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cardiac ventricular function", "equivalent_identifiers": ["HP:0030872", "UMLS:C4280733"], "information_content": 77.3}
{"id": "MONDO:0018976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schisis association", "equivalent_identifiers": ["MONDO:0018976", "orphanet:63862", "UMLS:C2931271", "MESH:C536633", "SNOMEDCT:718095000", "medgen:444017"], "information_content": 100.0}
{"id": "MONDO:0018854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired purpura fulminans", "equivalent_identifiers": ["MONDO:0018854", "orphanet:49566", "UMLS:C4510896", "SNOMEDCT:725157006", "medgen:1377273"], "information_content": 100.0}
{"id": "HP:0031365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular purpura", "equivalent_identifiers": ["HP:0031365", "UMLS:C4531173"], "information_content": 89.4}
{"id": "MONDO:0018929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medial condensing osteitis of the clavicle", "equivalent_identifiers": ["MONDO:0018929", "orphanet:57196", "UMLS:C5396729", "SNOMEDCT:870320009", "medgen:1710994"], "information_content": 100.0}
{"id": "HP:0010657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Patchy reduction of bone mineral density", "equivalent_identifiers": ["HP:0010657", "UMLS:C4023755"], "information_content": 100.0}
{"id": "HP:0011790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Activating thyroid-stimulating hormone receptor defect", "equivalent_identifiers": ["HP:0011790", "UMLS:C4023188"], "information_content": 100.0}
{"id": "MONDO:0001104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxic diffuse goiter", "equivalent_identifiers": ["MONDO:0001104", "DOID:10719", "UMLS:C0154138", "UMLS:C0342122", "MEDDRA:10044139", "MEDDRA:10044141", "MEDDRA:10044142", "SNOMEDCT:267374005", "medgen:488851", "ICD9:242.00", "HP:0011784"], "information_content": 85.5}
{"id": "MONDO:0019810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxic epidermal necrolysis", "equivalent_identifiers": ["MONDO:0019810", "orphanet:95455", "EFO:0004775", "UMLS:C0014518", "MEDDRA:10025166", "MEDDRA:10025167", "MEDDRA:10025168", "MEDDRA:10028849", "MEDDRA:10043221", "MEDDRA:10044223", "NCIT:C79777", "SNOMEDCT:23067006", "SNOMEDCT:768962006", "medgen:4501", "icd11.foundation:1575072695", "icd11.foundation:195467267"], "information_content": 90.9}
{"id": "MONDO:0002258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pharyngitis", "equivalent_identifiers": ["MONDO:0002258", "DOID:2275", "UMLS:C0031350", "UMLS:C0155824", "MESH:D010612", "MEDDRA:10034835", "MEDDRA:10034838", "MEDDRA:10065716", "NCIT:C26851", "SNOMEDCT:405737000", "medgen:45846", "ICD10:J02", "ICD9:462", "ICD9:472", "ICD9:478.20", "HP:0025439"], "information_content": 86.3}
{"id": "HP:0000036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal penis morphology", "equivalent_identifiers": ["HP:0000036", "UMLS:C4025896"], "information_content": 73.0}
{"id": "MONDO:0021722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvodynia", "equivalent_identifiers": ["MONDO:0021722", "UMLS:C0406670", "MESH:D056650", "MEDDRA:10047781", "MEDDRA:10083319", "SNOMEDCT:162145001", "SNOMEDCT:238968009", "medgen:96066", "icd11.foundation:1539507119", "HP:0030943"], "information_content": 100.0}
{"id": "HP:0031731", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased tear production", "equivalent_identifiers": ["HP:0031731", "UMLS:C4703505"], "information_content": 92.8}
{"id": "MONDO:0017983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "humero-radio-ulnar synostosis", "equivalent_identifiers": ["MONDO:0017983", "orphanet:3266", "UMLS:C4751207", "SNOMEDCT:773733000", "medgen:1656946", "icd11.foundation:1798339866"], "information_content": 92.8}
{"id": "HP:0033402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Digital ischemia", "equivalent_identifiers": ["HP:0033402", "UMLS:C5539564"], "information_content": 100.0}
{"id": "MONDO:0011320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radioulnar synostosis-microcephaly-scoliosis syndrome", "equivalent_identifiers": ["MONDO:0011320", "OMIM:603438", "orphanet:3268", "UMLS:C1863881", "medgen:400399"], "information_content": 100.0}
{"id": "MONDO:0019813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital tricuspid stenosis", "equivalent_identifiers": ["MONDO:0019813", "orphanet:95459", "UMLS:C0265836", "MEDDRA:10010656", "NCIT:C197886", "SNOMEDCT:36233006", "medgen:539527", "icd11.foundation:1996822362"], "information_content": 100.0}
{"id": "HP:0002818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the radius", "equivalent_identifiers": ["HP:0002818", "UMLS:C4025675"], "information_content": 70.0}
{"id": "HP:0001457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the musculature of the upper arm", "equivalent_identifiers": ["HP:0001457", "UMLS:C4025775"], "information_content": 83.6}
{"id": "MONDO:0019791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive mitochondrial ataxia syndrome", "equivalent_identifiers": ["MONDO:0019791", "orphanet:94125", "UMLS:C4760799", "SNOMEDCT:782696001", "medgen:1683676"], "information_content": 100.0}
{"id": "HP:0012079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of central motor conduction", "equivalent_identifiers": ["HP:0012079", "UMLS:C4023055"], "information_content": 95.4}
{"id": "MONDO:0018873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior cutaneous nerve entrapment syndrome", "equivalent_identifiers": ["MONDO:0018873", "orphanet:51890", "UMLS:C0393899", "MEDDRA:10090731", "SNOMEDCT:230648001", "medgen:581659"], "information_content": 100.0}
{"id": "HP:0100963", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperesthesia", "equivalent_identifiers": ["HP:0100963", "NCIT:C116376", "UMLS:C0020453", "MEDDRA:10020568", "MEDDRA:10020622", "SNOMEDCT:14151009", "MESH:D006941"], "information_content": 95.4}
{"id": "MONDO:0000355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ullrich congenital muscular dystrophy", "equivalent_identifiers": ["MONDO:0000355", "DOID:0050558", "OMIM.PS:254090", "orphanet:75840", "UMLS:C4551860", "MESH:C537521", "NCIT:C123438", "SNOMEDCT:240062007", "medgen:1642667", "icd11.foundation:1011547453"], "information_content": 89.4}
{"id": "HP:0011188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal EEG discharges with secondary generalization", "equivalent_identifiers": ["HP:0011188", "UMLS:C4023486"], "information_content": 100.0}
{"id": "MONDO:0018658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "19p13.3 microduplication syndrome", "equivalent_identifiers": ["MONDO:0018658", "orphanet:447980", "UMLS:C5679996", "SNOMEDCT:1229883008", "medgen:1807189"], "information_content": 100.0}
{"id": "MONDO:0019371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "narcolepsy without cataplexy", "equivalent_identifiers": ["MONDO:0019371", "orphanet:83465", "EFO:0005855", "UMLS:C1456240", "NCIT:C196016", "SNOMEDCT:91521000119104", "medgen:781102", "icd11.foundation:1494673323"], "information_content": 100.0}
{"id": "MONDO:0019373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "desmoplastic small round cell tumor", "equivalent_identifiers": ["MONDO:0019373", "DOID:6785", "orphanet:83469", "EFO:1000895", "UMLS:C0281508", "MESH:D058405", "MEDDRA:10064581", "MEDDRA:10064587", "NCIT:C8300", "SNOMEDCT:1156420003", "SNOMEDCT:128735004", "medgen:83833"], "information_content": 84.8}
{"id": "HP:0002585", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal peritoneum morphology", "equivalent_identifiers": ["HP:0002585", "UMLS:C4025698"], "information_content": 79.6}
{"id": "HP:0012064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unicameral bone cyst", "equivalent_identifiers": ["HP:0012064", "UMLS:C4082185"], "information_content": 100.0}
{"id": "HP:0003926", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal humeral diaphysis morphology", "equivalent_identifiers": ["HP:0003926", "UMLS:C4025502"], "information_content": 82.6}
{"id": "HP:0002696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal parietal bone morphology", "equivalent_identifiers": ["HP:0002696", "UMLS:C4021834"], "information_content": 85.5}
{"id": "HP:0003172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pubic bone morphology", "equivalent_identifiers": ["HP:0003172", "UMLS:C4021738"], "information_content": 79.0}
{"id": "HP:0003979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lytic defects of the radius", "equivalent_identifiers": ["HP:0003979", "UMLS:C4021841"], "information_content": 100.0}
{"id": "MONDO:0008718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Morvan syndrome", "equivalent_identifiers": ["MONDO:0008718", "orphanet:83467", "EFO:1001897", "UMLS:C3854373", "MEDDRA:10075006", "SNOMEDCT:763803004", "medgen:1632829"], "information_content": 95.4}
{"id": "MONDO:0019374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAMOS syndrome", "equivalent_identifiers": ["MONDO:0019374", "orphanet:83472", "UMLS:C4511633", "SNOMEDCT:726031001", "medgen:1387501"], "information_content": 100.0}
{"id": "HP:0031397", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased proportion of naive T cells", "equivalent_identifiers": ["HP:0031397", "UMLS:C4531152"], "information_content": 92.8}
{"id": "HP:0031690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opportunistic infection", "equivalent_identifiers": ["HP:0031690", "NCIT:C3289", "UMLS:C0029118", "MEDDRA:10030901", "SNOMEDCT:61274003", "MESH:D009894"], "information_content": 78.8}
{"id": "MONDO:0015307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Madras motor neuron disease", "equivalent_identifiers": ["MONDO:0015307", "orphanet:137867", "UMLS:C0393551", "SNOMEDCT:230255008", "medgen:581442", "icd11.foundation:1764644031"], "information_content": 100.0}
{"id": "MONDO:0019164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "6q terminal deletion syndrome", "equivalent_identifiers": ["MONDO:0019164", "orphanet:75857", "UMLS:C4304514", "SNOMEDCT:719666002", "medgen:930183"], "information_content": 100.0}
{"id": "HP:0000929", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal skull morphology", "equivalent_identifiers": ["HP:0000929", "UMLS:C0235942"], "information_content": 52.3}
{"id": "HP:0011215", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemihypsarrhythmia", "equivalent_identifiers": ["HP:0011215", "UMLS:C4023460"], "information_content": 100.0}
{"id": "MONDO:0020493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Haddad syndrome", "equivalent_identifiers": ["MONDO:0020493", "orphanet:99803", "UMLS:C1859049", "SNOMEDCT:719972004", "medgen:347052", "icd11.foundation:1685926536"], "information_content": 100.0}
{"id": "MONDO:0017924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system calcification-deafness-tubular acidosis-anemia syndrome", "equivalent_identifiers": ["MONDO:0017924", "orphanet:3240", "UMLS:C4512024", "SNOMEDCT:726669007", "medgen:1384620"], "information_content": 100.0}
{"id": "MONDO:0007428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-craniofacial syndrome", "equivalent_identifiers": ["MONDO:0007428", "OMIM:125230", "orphanet:3241", "UMLS:C1852278", "MESH:C565118", "SNOMEDCT:716245003", "medgen:342201"], "information_content": 100.0}
{"id": "HP:0010640", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal cavity morphology", "equivalent_identifiers": ["HP:0010640", "UMLS:C4023763"], "information_content": 86.3}
{"id": "HP:0031445", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oral mucosa nodule", "equivalent_identifiers": ["HP:0031445", "UMLS:C4531113"], "information_content": 100.0}
{"id": "MONDO:0019370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvovaginal gingival syndrome", "equivalent_identifiers": ["MONDO:0019370", "orphanet:83453", "UMLS:C3873472", "SNOMEDCT:707250009", "medgen:848586", "icd11.foundation:997964040"], "information_content": 100.0}
{"id": "HP:0011118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of tumor necrosis factor secretion", "equivalent_identifiers": ["HP:0011118", "UMLS:C4023529", "MP:0008556"], "information_content": 92.8}
{"id": "MONDO:0019369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex regional pain syndrome", "equivalent_identifiers": ["MONDO:0019369", "DOID:3223", "orphanet:83452", "EFO:1001998", "UMLS:C0458219", "MESH:D020918", "MEDDRA:10064332", "SNOMEDCT:128200000", "medgen:96846", "icd11.foundation:1834504950"], "information_content": 90.9}
{"id": "HP:0010742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Edema of the upper limbs", "equivalent_identifiers": ["HP:0010742", "UMLS:C0522035", "MEDDRA:10014214", "MEDDRA:10014259", "MEDDRA:10030096", "MEDDRA:10030132", "MEDDRA:10048384", "MEDDRA:10049905", "MEDDRA:10050063", "MEDDRA:10054505", "MEDDRA:10054683", "MEDDRA:10055918", "SNOMEDCT:102558002"], "information_content": 100.0}
{"id": "HP:0010834", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trophic changes related to pain", "equivalent_identifiers": ["HP:0010834", "UMLS:C4021220"], "information_content": 95.4}
{"id": "HP:0040170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of hair growth", "equivalent_identifiers": ["HP:0040170", "UMLS:C4073136"], "information_content": 89.4}
{"id": "MONDO:0019368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "florid cemento-osseous dysplasia", "equivalent_identifiers": ["MONDO:0019368", "orphanet:83451", "UMLS:C0555197", "UMLS:C3698372", "MESH:C537063", "NCIT:C173929", "NCIT:C8381", "SNOMEDCT:63937004", "SNOMEDCT:699228001", "SNOMEDCT:715634002", "medgen:107519", "icd11.foundation:2031259585"], "information_content": 100.0}
{"id": "HP:0100717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cementum morphology", "equivalent_identifiers": ["HP:0100717", "UMLS:C4021987"], "information_content": 80.6}
{"id": "HP:0006483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal number of teeth", "equivalent_identifiers": ["HP:0006483", "UMLS:C1290508", "SNOMEDCT:335443002"], "information_content": 73.8}
{"id": "HP:0012065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple bony cystic lesions", "equivalent_identifiers": ["HP:0012065", "UMLS:C4023063"], "information_content": 100.0}
{"id": "HP:0031035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic infection", "equivalent_identifiers": ["HP:0031035", "UMLS:C0151317", "MEDDRA:10076201", "SNOMEDCT:177010002"], "information_content": 92.8}
{"id": "HP:0008062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia affecting the anterior segment of the eye", "equivalent_identifiers": ["HP:0008062", "UMLS:C4024739"], "information_content": 79.6}
{"id": "MONDO:0019344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antisynthetase syndrome", "equivalent_identifiers": ["MONDO:0019344", "DOID:0080744", "orphanet:81", "EFO:1001982", "UMLS:C2609059", "MESH:C537778", "MEDDRA:10068801", "SNOMEDCT:445187004", "medgen:388567", "icd11.foundation:1572057936"], "information_content": 100.0}
{"id": "HP:0034143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-threonyl-tRNA synthetase antibody positivity", "equivalent_identifiers": ["HP:0034143", "UMLS:C5676739"], "information_content": 100.0}
{"id": "HP:0034145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-alanyl-tRNA synthetase antibody positivity", "equivalent_identifiers": ["HP:0034145", "UMLS:C5676741"], "information_content": 100.0}
{"id": "HP:0034146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-glycyl tRNA-synthetase antibody positivity", "equivalent_identifiers": ["HP:0034146", "UMLS:C5676742"], "information_content": 100.0}
{"id": "HP:0034147", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-aminoacyl-tRNA synthetase antibody positivity", "equivalent_identifiers": ["HP:0034147", "UMLS:C5676743"], "information_content": 85.5}
{"id": "HP:0034148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-isoleucyl tRNA-synthetase antibody positivity", "equivalent_identifiers": ["HP:0034148", "UMLS:C5676744"], "information_content": 100.0}
{"id": "HP:0034149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phenylalanyl tRNA synthetase antibody positivity", "equivalent_identifiers": ["HP:0034149", "UMLS:C5676745"], "information_content": 100.0}
{"id": "HP:0034150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-tyrosyl-tRNA synthetase antibody positivity", "equivalent_identifiers": ["HP:0034150", "UMLS:C5676746"], "information_content": 100.0}
{"id": "HP:0034151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-asparaginyl-tRNA synthetase antibody positivity", "equivalent_identifiers": ["HP:0034151", "UMLS:C5676747"], "information_content": 100.0}
{"id": "HP:0034152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-histidyl tRNA synthetase antibody positivity", "equivalent_identifiers": ["HP:0034152", "UMLS:C5676748"], "information_content": 100.0}
{"id": "HP:0034153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-cytosolic-5-nucleotidase-1A antibody positivity", "equivalent_identifiers": ["HP:0034153", "UMLS:C5676749"], "information_content": 100.0}
{"id": "HP:6001013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mechanic's hands", "equivalent_identifiers": ["HP:6001013", "UMLS:C4285704", "MEDDRA:10078195"], "information_content": 100.0}
{"id": "HP:6001014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hiker's feet", "equivalent_identifiers": ["HP:6001014", "UMLS:C5970351"], "information_content": 100.0}
{"id": "HP:0003328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hairshaft morphology", "equivalent_identifiers": ["HP:0003328", "UMLS:C4025632", "UMLS:C5706138"], "information_content": 84.2}
{"id": "MONDO:0010061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cerebellar ataxia-blindness-deafness syndrome", "equivalent_identifiers": ["MONDO:0010061", "DOID:0111612", "orphanet:95433", "UMLS:C1849094", "MESH:C537309", "SNOMEDCT:1204415006", "medgen:338611"], "information_content": 100.0}
{"id": "HP:0040246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced antithrombin antigen", "equivalent_identifiers": ["HP:0040246", "UMLS:C4280702"], "information_content": 100.0}
{"id": "HP:0031236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Predominantly dermal neutrophilic infiltrate", "equivalent_identifiers": ["HP:0031236", "UMLS:C4531256"], "information_content": 100.0}
{"id": "HP:0032324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-periodic recurrent fever", "equivalent_identifiers": ["HP:0032324", "UMLS:C5139270"], "information_content": 100.0}
{"id": "MONDO:0008803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antley-Bixler syndrome", "equivalent_identifiers": ["MONDO:0008803", "DOID:0050462", "DOID:0081289", "orphanet:83", "UMLS:C5234850", "MEDDRA:10083864", "SNOMEDCT:62964007", "medgen:1714404", "icd11.foundation:2027710139"], "information_content": 92.8}
{"id": "HP:0032355", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased peak expiratory flow", "equivalent_identifiers": ["HP:0032355", "UMLS:C5139288"], "information_content": 100.0}
{"id": "HP:0030966", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulmonary artery morphology", "equivalent_identifiers": ["HP:0030966", "UMLS:C4476881"], "information_content": 76.0}
{"id": "MONDO:0019391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia", "equivalent_identifiers": ["MONDO:0019391", "DOID:13636", "OMIM.PS:227650", "orphanet:84", "UMLS:C0015625", "UMLS:C1542664", "MESH:D005199", "MEDDRA:10016218", "MEDDRA:10055206", "NCIT:C62505", "SNOMEDCT:30575002", "medgen:41967", "ICD10:D61.09"], "information_content": 73.6}
{"id": "MONDO:0008786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxine-responsive sideroblastic anemia", "equivalent_identifiers": ["MONDO:0008786", "DOID:0060066", "OMIM:206000", "UMLS:C0272027", "UMLS:C1859787", "UMLS:C2937227", "MESH:C565954", "SNOMEDCT:191260004", "SNOMEDCT:25443007", "medgen:395346", "HP:0005522"], "information_content": 100.0}
{"id": "HP:0005344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal carotid artery morphology", "equivalent_identifiers": ["HP:0005344", "UMLS:C4025211"], "information_content": 73.8}
{"id": "HP:0008053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the iris", "equivalent_identifiers": ["HP:0008053", "UMLS:C4024748"], "information_content": 84.2}
{"id": "HP:0010293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the uvula", "equivalent_identifiers": ["HP:0010293", "UMLS:C4023917"], "information_content": 92.8}
{"id": "HP:0012041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased fertility in males", "equivalent_identifiers": ["HP:0012041", "UMLS:C0151640", "UMLS:C0848676", "MEDDRA:10016464", "MEDDRA:10016470", "SNOMEDCT:1263752007"], "information_content": 88.2}
{"id": "HP:0100587", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal preputium morphology", "equivalent_identifiers": ["HP:0100587", "UMLS:C4022016"], "information_content": 84.8}
{"id": "MONDO:0008510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symphalangism with multiple anomalies of hands and feet", "equivalent_identifiers": ["MONDO:0008510", "OMIM:185750", "orphanet:3246", "UMLS:C1861391", "MESH:C566098", "SNOMEDCT:732955001", "medgen:348859"], "information_content": 100.0}
{"id": "HP:0004197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism of the 4th finger", "equivalent_identifiers": ["HP:0004197", "UMLS:C4021679"], "information_content": 88.2}
{"id": "HP:0004218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism of the 5th finger", "equivalent_identifiers": ["HP:0004218", "UMLS:C4021676"], "information_content": 88.2}
{"id": "HP:0006019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced proximal interphalangeal joint space", "equivalent_identifiers": ["HP:0006019", "UMLS:C1861396"], "information_content": 100.0}
{"id": "HP:0010179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism affecting the phalanges of the toes", "equivalent_identifiers": ["HP:0010179", "UMLS:C4023984"], "information_content": 76.7}
{"id": "HP:0010182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the distal phalanges of the toes", "equivalent_identifiers": ["HP:0010182", "UMLS:C4023982"], "information_content": 67.3}
{"id": "HP:0100371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the distal phalanx of the 5th toe", "equivalent_identifiers": ["HP:0100371", "UMLS:C4022120"], "information_content": 92.8}
{"id": "MONDO:8000010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antiphospholipid syndrome", "equivalent_identifiers": ["MONDO:8000010", "DOID:2988", "orphanet:80", "EFO:0002689", "UMLS:C0085278", "MESH:D016736", "MEDDRA:10002817", "NCIT:C61283", "SNOMEDCT:26843008", "medgen:38834", "icd11.foundation:1173370808", "ICD10:D68.61"], "information_content": 88.2}
{"id": "HP:0034098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phosphatidyl glycerol antibody positivity", "equivalent_identifiers": ["HP:0034098", "UMLS:C5676694"], "information_content": 100.0}
{"id": "HP:0034099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phosphatidyl inositol antibody positivity", "equivalent_identifiers": ["HP:0034099", "UMLS:C5676695"], "information_content": 100.0}
{"id": "HP:0034100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phosphatidyl serine antibody positivity", "equivalent_identifiers": ["HP:0034100", "UMLS:C5676696"], "information_content": 100.0}
{"id": "HP:0034101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-annexin-V antibody positivity", "equivalent_identifiers": ["HP:0034101", "UMLS:C5676697"], "information_content": 100.0}
{"id": "HP:0020137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anticardiolipin IgM antibody positivity", "equivalent_identifiers": ["HP:0020137", "UMLS:C5209233"], "information_content": 100.0}
{"id": "HP:0032376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-beta 2 glycoprotein I antibody positivity", "equivalent_identifiers": ["HP:0032376", "UMLS:C5139305"], "information_content": 92.8}
{"id": "HP:0034157", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-beta-2-Glycoprotein I IgM antibody positivity", "equivalent_identifiers": ["HP:0034157", "UMLS:C5676753"], "information_content": 100.0}
{"id": "HP:0034084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phosphatidyl ethanolamine antibody positivity", "equivalent_identifiers": ["HP:0034084", "UMLS:C5676680"], "information_content": 100.0}
{"id": "HP:0034097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phosphatidyl choline antibody positivity", "equivalent_identifiers": ["HP:0034097", "UMLS:C5676693"], "information_content": 100.0}
{"id": "HP:0000359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the inner ear", "equivalent_identifiers": ["HP:0000359", "UMLS:C4021809"], "information_content": 57.8}
{"id": "MONDO:0019803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioma serpiginosum", "equivalent_identifiers": ["MONDO:0019803", "DOID:4028", "orphanet:95429", "UMLS:C0263637", "MEDDRA:10086217", "NCIT:C3926", "SNOMEDCT:49465005", "medgen:75528", "icd11.foundation:1724787481", "ICD10:L81.7"], "information_content": 92.8}
{"id": "MONDO:0019802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary short bowel syndrome", "equivalent_identifiers": ["MONDO:0019802", "orphanet:95427", "UMLS:C5681579", "medgen:1842747"], "information_content": 100.0}
{"id": "HP:0030247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splanchnic vein thrombosis", "equivalent_identifiers": ["HP:0030247", "NCIT:C150134", "UMLS:C4022560", "SNOMEDCT:1293122004"], "information_content": 90.9}
{"id": "HP:0006479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dental pulp morphology", "equivalent_identifiers": ["HP:0006479", "UMLS:C4025042"], "information_content": 80.2}
{"id": "MONDO:0000750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dental abscess", "equivalent_identifiers": ["MONDO:0000750", "DOID:0060324", "UMLS:C0518988", "MEDDRA:10000278", "MEDDRA:10012314", "MEDDRA:10044016", "MEDDRA:10088408", "NCIT:C35475", "SNOMEDCT:299709002", "medgen:99235", "ICD10:K04.6", "HP:0030757"], "information_content": 90.9}
{"id": "MONDO:0016674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY partial gonadal dysgenesis", "equivalent_identifiers": ["MONDO:0016674", "orphanet:251510", "UMLS:C4510744", "SNOMEDCT:725045004", "medgen:1388250"], "information_content": 86.3}
{"id": "HP:0012244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sex determination", "equivalent_identifiers": ["HP:0012244", "UMLS:C4022996"], "information_content": 95.4}
{"id": "MONDO:0002698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular gonadoblastoma", "equivalent_identifiers": ["MONDO:0002698", "DOID:3579", "UMLS:C1515283", "NCIT:C39911", "medgen:272839", "HP:0000030"], "information_content": 100.0}
{"id": "HP:0000058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal labia morphology", "equivalent_identifiers": ["HP:0000058", "UMLS:C4025892"], "information_content": 77.6}
{"id": "MONDO:0000107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auriculocondylar syndrome", "equivalent_identifiers": ["MONDO:0000107", "OMIM.PS:602483", "orphanet:137888", "UMLS:C1865295", "MESH:C538270", "SNOMEDCT:702443003", "medgen:355953"], "information_content": 87.2}
{"id": "HP:0009902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cleft helix", "equivalent_identifiers": ["HP:0009902", "UMLS:C4021376"], "information_content": 92.8}
{"id": "HP:0008772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the external ear", "equivalent_identifiers": ["HP:0008772", "UMLS:C4024626"], "information_content": 83.6}
{"id": "HP:0009895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the crus of the helix", "equivalent_identifiers": ["HP:0009895", "UMLS:C4021380"], "information_content": 84.8}
{"id": "HP:0010754", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the temporomandibular joint", "equivalent_identifiers": ["HP:0010754", "UMLS:C0266941", "UMLS:C0424721", "UMLS:C1865318", "UMLS:C4280366", "SNOMEDCT:248401009", "SNOMEDCT:75630004"], "information_content": 83.6}
{"id": "HP:0100277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periauricular skin pits", "equivalent_identifiers": ["HP:0100277", "UMLS:C4022171"], "information_content": 90.9}
{"id": "MONDO:0007421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-ear malformation-facial palsy syndrome", "equivalent_identifiers": ["MONDO:0007421", "OMIM:124490", "orphanet:3232", "UMLS:C1852292", "UMLS:C4274753", "MESH:C565123", "SNOMEDCT:716243005", "medgen:338900"], "information_content": 100.0}
{"id": "HP:0000383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal periauricular region morphology", "equivalent_identifiers": ["HP:0000383", "UMLS:C4025856"], "information_content": 84.8}
{"id": "HP:0008628", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal stapes morphology", "equivalent_identifiers": ["HP:0008628", "UMLS:C4021532"], "information_content": 79.6}
{"id": "HP:0009906", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the earlobes", "equivalent_identifiers": ["HP:0009906", "UMLS:C1851792"], "information_content": 90.9}
{"id": "MONDO:0100339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Friedreich ataxia", "equivalent_identifiers": ["MONDO:0100339", "DOID:12705", "orphanet:95", "UMLS:C0016719", "MESH:D005621", "MEDDRA:10017374", "NCIT:C84718", "SNOMEDCT:10394003", "medgen:5276", "icd11.foundation:980686666", "ICD10:G11.11", "ICD9:334.0"], "information_content": 90.9}
{"id": "HP:0030183", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired visually enhanced vestibulo-ocular reflex", "equivalent_identifiers": ["HP:0030183", "UMLS:C4021047"], "information_content": 100.0}
{"id": "HP:0025402", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Square-wave jerks", "equivalent_identifiers": ["HP:0025402", "UMLS:C1843893"], "information_content": 100.0}
{"id": "MONDO:0017923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple synostoses syndrome", "equivalent_identifiers": ["MONDO:0017923", "DOID:0050794", "OMIM.PS:186500", "orphanet:3237", "UMLS:C0175700", "medgen:511579", "icd11.foundation:248917534"], "information_content": 89.4}
{"id": "MONDO:0019028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amoebiasis due to Entamoeba histolytica", "equivalent_identifiers": ["MONDO:0019028", "orphanet:67", "UMLS:C2930799", "MESH:C531613", "medgen:443898"], "information_content": 100.0}
{"id": "HP:0100282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute colitis", "equivalent_identifiers": ["HP:0100282", "UMLS:C2118460"], "information_content": 100.0}
{"id": "MONDO:0019036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amoebiasis due to free-living amoebae", "equivalent_identifiers": ["MONDO:0019036", "orphanet:68", "UMLS:C0153326", "SNOMEDCT:266169003", "medgen:509253"], "information_content": 100.0}
{"id": "HP:0020059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased red blood cell count", "equivalent_identifiers": ["HP:0020059", "UMLS:C0427458", "MEDDRA:10037924", "MEDDRA:10038154", "MEDDRA:10038155", "MEDDRA:10050783", "SNOMEDCT:165424007"], "information_content": 100.0}
{"id": "HP:0000223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of taste sensation", "equivalent_identifiers": ["HP:0000223", "UMLS:C4025879"], "information_content": 88.2}
{"id": "MONDO:0005495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal gland disorder", "equivalent_identifiers": ["MONDO:0005495", "DOID:9553", "EFO:0005539", "UMLS:C0001621", "UMLS:C4021794", "MESH:D000307", "MEDDRA:10001347", "MEDDRA:10001348", "MEDDRA:10001353", "MEDDRA:10045767", "NCIT:C26690", "SNOMEDCT:30171000", "medgen:892577", "ICD10:E27.9", "ICD9:255.9", "HP:0000834"], "information_content": 66.2}
{"id": "HP:0032620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal Abscess", "equivalent_identifiers": ["HP:0032620", "NCIT:C123017", "UMLS:C0151465", "MEDDRA:10000286", "MEDDRA:10023394", "MEDDRA:10038351", "MEDDRA:10038352", "SNOMEDCT:3321001"], "information_content": 100.0}
{"id": "MONDO:0019131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ossification anomalies-psychomotor developmental delay syndrome", "equivalent_identifiers": ["MONDO:0019131", "orphanet:73230", "UMLS:C4302826", "SNOMEDCT:722107005", "medgen:928495"], "information_content": 100.0}
{"id": "HP:0011849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal bone ossification", "equivalent_identifiers": ["HP:0011849", "UMLS:C4023161", "UMLS:C4280317", "MP:0008271"], "information_content": 57.2}
{"id": "MONDO:0018965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alport syndrome", "equivalent_identifiers": ["MONDO:0018965", "DOID:10983", "OMIM.PS:301050", "orphanet:63", "UMLS:C1567741", "MEDDRA:10001843", "NCIT:C34842", "SNOMEDCT:770414008", "medgen:339209", "icd11.foundation:1170919425"], "information_content": 88.2}
{"id": "HP:0032583", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal glomerular foam cells", "equivalent_identifiers": ["HP:0032583", "UMLS:C5397608"], "information_content": 100.0}
{"id": "HP:0008373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Puberty and gonadal disorders", "equivalent_identifiers": ["HP:0008373", "UMLS:C4024685"], "information_content": 76.4}
{"id": "HP:0031865", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal liver physiology", "equivalent_identifiers": ["HP:0031865", "UMLS:C4703582"], "information_content": 89.4}
{"id": "MONDO:0019155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leydig cell hypoplasia", "equivalent_identifiers": ["MONDO:0019155", "DOID:0112259", "orphanet:755", "UMLS:C0860158", "UMLS:C4023702", "MESH:C562567", "MEDDRA:10024406", "medgen:449533", "icd11.foundation:472787488", "HP:0010790"], "information_content": 89.4}
{"id": "HP:0012786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent cystitis", "equivalent_identifiers": ["HP:0012786", "UMLS:C0581366", "SNOMEDCT:197853008"], "information_content": 100.0}
{"id": "HP:0012860", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Testicular fibrosis", "equivalent_identifiers": ["HP:0012860", "UMLS:C4021061"], "information_content": 100.0}
{"id": "MONDO:0001447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "detrusor sphincter dyssynergia", "equivalent_identifiers": ["MONDO:0001447", "DOID:12145", "UMLS:C0341747", "MEDDRA:10012550", "SNOMEDCT:236655005", "medgen:574618", "ICD9:596.55", "HP:0025488"], "information_content": 100.0}
{"id": "HP:0025496", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal coronary artery physiology", "equivalent_identifiers": ["HP:0025496", "UMLS:C4476812"], "information_content": 95.4}
{"id": "MONDO:0018998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis", "equivalent_identifiers": ["MONDO:0018998", "DOID:14791", "OMIM.PS:204000", "orphanet:65", "UMLS:C0339527", "MESH:D057130", "MEDDRA:10070667", "NCIT:C129075", "SNOMEDCT:193413001", "medgen:137922", "icd11.foundation:650490256"], "information_content": 79.9}
{"id": "HP:0012795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal optic disc morphology", "equivalent_identifiers": ["HP:0012795", "UMLS:C3808249", "UMLS:C5706140"], "information_content": 76.5}
{"id": "orphanet:3220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deafness-enamel hypoplasia-nail defects syndrome", "equivalent_identifiers": ["orphanet:3220"]}
{"id": "HP:0100643", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of nail color", "equivalent_identifiers": ["HP:0100643", "UMLS:C4020960"], "information_content": 89.4}
{"id": "MONDO:0020509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary syringomyelia", "equivalent_identifiers": ["MONDO:0020509", "orphanet:99857", "UMLS:C4749399", "SNOMEDCT:770683002", "medgen:1649806"], "information_content": 100.0}
{"id": "MONDO:0018808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caroli syndrome", "equivalent_identifiers": ["MONDO:0018808", "DOID:0081394", "orphanet:480520", "UMLS:C5700203", "MEDDRA:10007672", "SNOMEDCT:1237346001", "medgen:1814547"], "information_content": 100.0}
{"id": "HP:0100889", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ductus choledochus morphology", "equivalent_identifiers": ["HP:0100889", "UMLS:C4020944"], "information_content": 92.8}
{"id": "HP:0032545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal rigidity", "equivalent_identifiers": ["HP:0032545", "UMLS:C0159066", "MEDDRA:10000090", "SNOMEDCT:72300008"], "information_content": 100.0}
{"id": "MONDO:0020505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ravine syndrome", "equivalent_identifiers": ["MONDO:0020505", "orphanet:99852", "UMLS:C4275006", "SNOMEDCT:715794009", "medgen:907744", "icd11.foundation:451093599"], "information_content": 100.0}
{"id": "MONDO:0017920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome", "equivalent_identifiers": ["MONDO:0017920", "orphanet:3224", "UMLS:C2931654", "MESH:C537887", "SNOMEDCT:721086004", "medgen:419464"], "information_content": 100.0}
{"id": "MONDO:0017921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss-familial salivary gland insensitivity to aldosterone syndrome", "equivalent_identifiers": ["MONDO:0017921", "orphanet:3225", "UMLS:C2931369", "UMLS:C4274756", "MESH:C536927", "SNOMEDCT:716239006", "medgen:419395"], "information_content": 100.0}
{"id": "MONDO:0019130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tubular renal disease-cardiomyopathy syndrome", "equivalent_identifiers": ["MONDO:0019130", "orphanet:73224", "UMLS:C4304399", "SNOMEDCT:719839000", "medgen:930068"], "information_content": 100.0}
{"id": "HP:0011038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal tubular resorption", "equivalent_identifiers": ["HP:0011038", "UMLS:C4023578"], "information_content": 83.1}
{"id": "MONDO:0019129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "global developmental delay-osteopenia-ectodermal defect syndrome", "equivalent_identifiers": ["MONDO:0019129", "orphanet:73223", "UMLS:C4303570", "SNOMEDCT:717813005", "medgen:929239"], "information_content": 100.0}
{"id": "HP:0011125", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of dermal melanosomes", "equivalent_identifiers": ["HP:0011125", "UMLS:C4023525"], "information_content": 90.9}
{"id": "HP:0011368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epidermal thickening", "equivalent_identifiers": ["HP:0011368", "UMLS:C0494876", "UMLS:C4020752"], "information_content": 72.8}
{"id": "HP:0001593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maxillary lateral incisor microdontia", "equivalent_identifiers": ["HP:0001593", "UMLS:C1845111", "UMLS:C4280588", "UMLS:C4280589"], "information_content": 100.0}
{"id": "HP:0011074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Localized hypoplasia of dental enamel", "equivalent_identifiers": ["HP:0011074", "UMLS:C4023550", "UMLS:C4280339"], "information_content": 100.0}
{"id": "HP:0012365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypophosphaturia", "equivalent_identifiers": ["HP:0012365", "UMLS:C0268077", "SNOMEDCT:91632005"], "information_content": 100.0}
{"id": "HP:0040247", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced euglobulin clot lysis time", "equivalent_identifiers": ["HP:0040247", "UMLS:C4280701"], "information_content": 100.0}
{"id": "MONDO:0013099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined pituitary hormone deficiencies, genetic form", "equivalent_identifiers": ["MONDO:0013099", "OMIM.PS:613038", "orphanet:95494", "UMLS:C4273747", "SNOMEDCT:718182008", "medgen:906592"], "information_content": 79.6}
{"id": "MONDO:0019143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiostrongyliasis", "equivalent_identifiers": ["MONDO:0019143", "DOID:0050256", "orphanet:74", "UMLS:C0392662", "UMLS:C4316792", "MESH:C536369", "MEDDRA:10069517", "NCIT:C128394", "SNOMEDCT:61750000", "medgen:98230", "icd11.foundation:1768378720"], "information_content": 100.0}
{"id": "MONDO:0024619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system infectious disorder", "equivalent_identifiers": ["MONDO:0024619", "EFO:1001456", "UMLS:C0007684", "UMLS:C4759823", "MESH:D002494", "MEDDRA:10051551", "MEDDRA:10061036", "NCIT:C27582", "SNOMEDCT:128117002", "medgen:1684837", "HP:0011450"], "information_content": 69.5}
{"id": "HP:0032336", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating specific IgE antibody concentration", "equivalent_identifiers": ["HP:0032336", "UMLS:C5139278"], "information_content": 79.6}
{"id": "MONDO:0017287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunoglobulin G4-related sclerosing disease", "equivalent_identifiers": ["MONDO:0017287", "DOID:0080356", "orphanet:284264", "orphanet:596448", "UMLS:C3203653", "MEDDRA:10071569", "MEDDRA:10071581", "NCIT:C95992", "medgen:473761", "icd11.foundation:99883782"], "information_content": 80.2}
{"id": "HP:0030992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pancreatic duct morphology", "equivalent_identifiers": ["HP:0030992", "UMLS:C4476900"], "information_content": 95.4}
{"id": "MONDO:0006969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sialadenitis", "equivalent_identifiers": ["MONDO:0006969", "DOID:10303", "EFO:1001179", "UMLS:C0037023", "MESH:D012793", "MEDDRA:10040627", "MEDDRA:10040628", "MEDDRA:10040630", "MEDDRA:10075244", "NCIT:C115165", "NCIT:C26882", "SNOMEDCT:42982001", "medgen:48657", "ICD9:527.2", "HP:0031281"], "information_content": 92.8}
{"id": "HP:0032300", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgG4 level", "equivalent_identifiers": ["HP:0032300", "UMLS:C5139257"], "information_content": 100.0}
{"id": "MONDO:0011047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-epiphyseal dysplasia-short stature syndrome", "equivalent_identifiers": ["MONDO:0011047", "OMIM:601351", "orphanet:3218", "UMLS:C1832438", "MESH:C535928", "SNOMEDCT:716238003", "medgen:371330"], "information_content": 100.0}
{"id": "MONDO:0020504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary recurrent myoglobinuria", "equivalent_identifiers": ["MONDO:0020504", "orphanet:99845", "UMLS:C4274324", "SNOMEDCT:716721003", "medgen:901659"], "information_content": 92.8}
{"id": "HP:0010969", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of glycolipid metabolism", "equivalent_identifiers": ["HP:0010969", "UMLS:C4023621"], "information_content": 84.8}
{"id": "HP:0045037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of jaw muscles", "equivalent_identifiers": ["HP:0045037", "UMLS:C4073166"], "information_content": 81.7}
{"id": "HP:0011821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal facial skeleton morphology", "equivalent_identifiers": ["HP:0011821", "UMLS:C2315229", "SNOMEDCT:433096001"], "information_content": 56.7}
{"id": "HP:0012294", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal occipital bone morphology", "equivalent_identifiers": ["HP:0012294", "UMLS:C4022964"], "information_content": 76.2}
{"id": "HP:0007461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemangiomatosis", "equivalent_identifiers": ["HP:0007461", "UMLS:C0018921", "UMLS:C1384590", "SNOMEDCT:254785001", "SNOMEDCT:47669001"], "information_content": 92.8}
{"id": "HP:0045027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the thoracic cavity", "equivalent_identifiers": ["HP:0045027", "UMLS:C4022394"], "information_content": 84.8}
{"id": "orphanet:480536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MSH3-related polyposis", "equivalent_identifiers": ["orphanet:480536"]}
{"id": "HP:0004784", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile gastrointestinal polyposis", "equivalent_identifiers": ["HP:0004784", "UMLS:C4025294", "UMLS:C5700079"], "information_content": 100.0}
{"id": "HP:0200007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal size of the palpebral fissures", "equivalent_identifiers": ["HP:0200007", "UMLS:C4021904", "UMLS:C4280286"], "information_content": 84.8}
{"id": "HP:0410292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal isohemagglutinin level", "equivalent_identifiers": ["HP:0410292", "UMLS:C5139455"], "information_content": 92.8}
{"id": "HP:0004299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hernia of the abdominal wall", "equivalent_identifiers": ["HP:0004299", "NCIT:C98700", "UMLS:C1442978", "MEDDRA:10019911", "SNOMEDCT:128545000", "MESH:D046449"], "information_content": 84.2}
{"id": "MONDO:0013028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenosine monophosphate deaminase deficiency", "equivalent_identifiers": ["MONDO:0013028", "orphanet:45", "UMLS:C0268123", "UMLS:C2931781", "MESH:C538234", "SNOMEDCT:124525004", "SNOMEDCT:9105005", "medgen:444140", "icd11.foundation:550341491"], "information_content": 100.0}
{"id": "HP:0008331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated creatine kinase after exercise", "equivalent_identifiers": ["HP:0008331", "UMLS:C4024700"], "information_content": 100.0}
{"id": "MONDO:0005833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lymphadenopathy", "equivalent_identifiers": ["MONDO:0005833", "DOID:75", "EFO:0007352", "UMLS:C0920348", "UMLS:C4021976", "MESH:D008206", "MEDDRA:10025231", "NCIT:C50764", "SNOMEDCT:234087005", "SNOMEDCT:3305006", "SNOMEDCT:362971004", "medgen:892707", "HP:0100763"], "information_content": 56.9}
{"id": "MONDO:0018416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 59", "equivalent_identifiers": ["MONDO:0018416", "orphanet:401795", "UMLS:C4750857", "SNOMEDCT:773425000", "medgen:1669596"], "information_content": 100.0}
{"id": "MONDO:0018801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bilateral absence of vas deferens", "equivalent_identifiers": ["MONDO:0018801", "DOID:0111862", "OMIM.PS:277180", "orphanet:48", "UMLS:C1865433", "SNOMEDCT:275416002", "medgen:400764"], "information_content": 90.9}
{"id": "HP:0430121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seminal vesicle agenesis", "equivalent_identifiers": ["HP:0430121", "UMLS:C1387038", "MEDDRA:10089828"], "information_content": 100.0}
{"id": "HP:0030199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of neck muscles", "equivalent_identifiers": ["HP:0030199", "UMLS:C4022584"], "information_content": 100.0}
{"id": "HP:0045040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating lactate dehydrogenase concentration", "equivalent_identifiers": ["HP:0045040", "UMLS:C4073168"], "information_content": 92.8}
{"id": "orphanet:44", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal adrenoleukodystrophy", "equivalent_identifiers": ["orphanet:44"]}
{"id": "HP:0000052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethral atresia, male", "equivalent_identifiers": ["HP:0000052", "UMLS:C4025894"], "information_content": 100.0}
{"id": "HP:0010480", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethral fistula", "equivalent_identifiers": ["HP:0010480", "NCIT:C78668", "UMLS:C0041970", "MEDDRA:10046451", "SNOMEDCT:14981000"], "information_content": 92.8}
{"id": "HP:0012620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cloacal abnormality", "equivalent_identifiers": ["HP:0012620", "UMLS:C4022816"], "information_content": 84.2}
{"id": "MONDO:0034127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA pemphigus", "equivalent_identifiers": ["MONDO:0034127", "DOID:0080851", "orphanet:555905", "UMLS:C1274167", "SNOMEDCT:402717008", "medgen:697519"], "information_content": 100.0}
{"id": "HP:0031539", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear IgA deposits along the epidermal basement membrane zone", "equivalent_identifiers": ["HP:0031539", "UMLS:C4531057"], "information_content": 100.0}
{"id": "HP:0032335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monoclonal elevation of circulating IgA", "equivalent_identifiers": ["HP:0032335", "UMLS:C5139277"], "information_content": 100.0}
{"id": "MONDO:0017918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0017918", "orphanet:3207", "UMLS:C2931292", "MESH:C536701", "SNOMEDCT:783703004", "medgen:419038"], "information_content": 100.0}
{"id": "HP:0005150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal atrioventricular conduction", "equivalent_identifiers": ["HP:0005150", "UMLS:C4025244"], "information_content": 82.6}
{"id": "MONDO:0017910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xerocytosis", "equivalent_identifiers": ["MONDO:0017910", "DOID:0111575", "orphanet:3202", "UMLS:C0272051", "MESH:C536764", "MEDDRA:10089900", "SNOMEDCT:715526002", "SNOMEDCT:87994004", "medgen:124415", "icd11.foundation:799088159"], "information_content": 92.8}
{"id": "HP:0011042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating potassium concentration", "equivalent_identifiers": ["HP:0011042", "UMLS:C4023575"], "information_content": 80.6}
{"id": "HP:0012431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic fatigue", "equivalent_identifiers": ["HP:0012431", "UMLS:C4022907"], "information_content": 100.0}
{"id": "HP:0030950", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary venous hypertension", "equivalent_identifiers": ["HP:0030950", "UMLS:C4477098", "MEDDRA:10085364"], "information_content": 100.0}
{"id": "MONDO:0018632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "11q22.2q22.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018632", "orphanet:444002", "UMLS:C5680062", "SNOMEDCT:1229882003", "medgen:1805294"], "information_content": 100.0}
{"id": "HP:0025065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mean corpuscular volume", "equivalent_identifiers": ["HP:0025065", "UMLS:C0853655", "MEDDRA:10026977", "MEDDRA:10027000", "MEDDRA:10027001", "MEDDRA:10027009"], "information_content": 92.8}
{"id": "HP:0100761", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visceral angiomatosis", "equivalent_identifiers": ["HP:0100761", "UMLS:C4021977"], "information_content": 100.0}
{"id": "HP:0100773", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cartilage destruction", "equivalent_identifiers": ["HP:0100773", "UMLS:C4021973"], "information_content": 100.0}
{"id": "HP:6000027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oil-drop brown pigmentation of the corneal limbus", "equivalent_identifiers": ["HP:6000027", "UMLS:C5936915"], "information_content": 100.0}
{"id": "HP:0011982", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Black pigment gallstones", "equivalent_identifiers": ["HP:0011982", "UMLS:C4023098"], "information_content": 100.0}
{"id": "MONDO:0001776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prostatic Stone", "equivalent_identifiers": ["MONDO:0001776", "DOID:13689", "UMLS:C0149525", "MEDDRA:10007017", "MEDDRA:10007019", "MEDDRA:10036945", "NCIT:C26936", "SNOMEDCT:85324003", "medgen:57431", "ICD10:N42.0", "ICD9:602.0", "HP:0034882"], "information_content": 100.0}
{"id": "HP:0012545", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating aldolase concentration", "equivalent_identifiers": ["HP:0012545", "UMLS:C4022857"], "information_content": 100.0}
{"id": "MONDO:0007318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alagille syndrome", "equivalent_identifiers": ["MONDO:0007318", "DOID:9245", "OMIM.PS:118450", "orphanet:52", "UMLS:C0085280", "MESH:D016738", "MEDDRA:10053870", "NCIT:C35139", "SNOMEDCT:31742004", "medgen:39014", "icd11.foundation:1249656206", "ICD10:Q44.7"], "information_content": 90.9}
{"id": "MONDO:0020501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crimean-Congo hemorrhagic fever", "equivalent_identifiers": ["MONDO:0020501", "DOID:12287", "orphanet:99827", "UMLS:C0019099", "MESH:D006479", "MEDDRA:10010685", "MEDDRA:10010686", "MEDDRA:10011388", "MEDDRA:10060532", "MEDDRA:10060533", "MEDDRA:10060534", "NCIT:C34682", "SNOMEDCT:402919000", "SNOMEDCT:43489008", "medgen:6800", "icd11.foundation:1562906700", "ICD10:A98.0", "ICD9:065.0"], "information_content": 100.0}
{"id": "MONDO:0006802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inappropriate ADH syndrome", "equivalent_identifiers": ["MONDO:0006802", "DOID:3401", "EFO:1000982", "UMLS:C0021141", "MESH:D007177", "MEDDRA:10001270", "MEDDRA:10001271", "MEDDRA:10021586", "MEDDRA:10021587", "MEDDRA:10021598", "MEDDRA:10040626", "MEDDRA:10042818", "MEDDRA:10053198", "MEDDRA:10071644", "MEDDRA:10087107", "NCIT:C3988", "SNOMEDCT:55004003", "medgen:5772", "ICD10:E22.2", "HP:0031218"], "information_content": 100.0}
{"id": "MONDO:0015458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome", "equivalent_identifiers": ["MONDO:0015458", "orphanet:1495", "UMLS:C4302530", "SNOMEDCT:722455002", "medgen:928199"], "information_content": 100.0}
{"id": "MONDO:0005502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dengue disease", "equivalent_identifiers": ["MONDO:0005502", "DOID:12205", "orphanet:99828", "EFO:0005547", "UMLS:C0011311", "MESH:D003715", "MEDDRA:10012309", "MEDDRA:10012310", "MEDDRA:10012312", "MEDDRA:10087793", "MEDDRA:10087794", "NCIT:C34528", "SNOMEDCT:38362002", "medgen:3721", "ICD10:A90", "ICD9:061"], "information_content": 89.4}
{"id": "MONDO:0020502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "yellow fever", "equivalent_identifiers": ["MONDO:0020502", "DOID:9682", "orphanet:99829", "UMLS:C0043395", "MESH:D015004", "MEDDRA:10046248", "MEDDRA:10048240", "MEDDRA:10048242", "MEDDRA:10048243", "NCIT:C35547", "SNOMEDCT:16541001", "medgen:53112", "icd11.foundation:383352795", "ICD10:A95", "ICD9:060"], "information_content": 100.0}
{"id": "MONDO:0005820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lassa fever", "equivalent_identifiers": ["MONDO:0005820", "DOID:9537", "orphanet:99824", "EFO:0007338", "UMLS:C0023092", "MESH:D007835", "MEDDRA:10023927", "NCIT:C128418", "SNOMEDCT:19065005", "medgen:7276", "icd11.foundation:515020316", "ICD10:A96.2"], "information_content": 100.0}
{"id": "MONDO:0020499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nipah virus disease", "equivalent_identifiers": ["MONDO:0020499", "DOID:0050192", "orphanet:99825", "UMLS:C1320202", "UMLS:C4303115", "SNOMEDCT:406597005", "SNOMEDCT:721791005", "medgen:728863"], "information_content": 100.0}
{"id": "MONDO:0018866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome", "equivalent_identifiers": ["MONDO:0018866", "DOID:0050629", "OMIM.PS:225750", "orphanet:51", "UMLS:C0393591", "MESH:C535607", "MEDDRA:10083189", "SNOMEDCT:230312006", "medgen:97953", "ICD10:G31.8"], "information_content": 84.2}
{"id": "MONDO:0019415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal and neonatal alloimmune thrombocytopenia", "equivalent_identifiers": ["MONDO:0019415", "orphanet:853", "UMLS:C3853779", "UMLS:C3854603", "MEDDRA:10075149", "MEDDRA:10075150", "MEDDRA:10075151", "MEDDRA:10075152", "MEDDRA:10075153", "NCIT:C101200", "SNOMEDCT:240305000", "medgen:1720701", "HP:0004809"], "information_content": 100.0}
{"id": "MONDO:0020500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marburg hemorrhagic fever", "equivalent_identifiers": ["MONDO:0020500", "DOID:4327", "orphanet:99826", "EFO:0007358", "UMLS:C0024788", "MESH:D008379", "MEDDRA:10026822", "MEDDRA:10026823", "MEDDRA:10026825", "MEDDRA:10055306", "NCIT:C84883", "SNOMEDCT:77503002", "medgen:9888", "icd11.foundation:696598707", "ICD10:A98.3"], "information_content": 100.0}
{"id": "HP:0012137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal number of granulocyte precursors", "equivalent_identifiers": ["HP:0012137", "UMLS:C4023029"], "information_content": 92.8}
{"id": "HP:0410257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neutrophilia in presence of infection", "equivalent_identifiers": ["HP:0410257", "UMLS:C5139433"], "information_content": 100.0}
{"id": "HP:0004360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of acid-base homeostasis", "equivalent_identifiers": ["HP:0004360", "UMLS:C0001118", "MEDDRA:10000457", "SNOMEDCT:704429007", "MESH:D000137"], "information_content": 70.8}
{"id": "HP:0012763", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal dyspnea", "equivalent_identifiers": ["HP:0012763", "UMLS:C0013405", "SNOMEDCT:59265000", "MESH:D004418"], "information_content": 100.0}
{"id": "MONDO:0015787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symptomatic form of hemophilia A in female carriers", "equivalent_identifiers": ["MONDO:0015787", "orphanet:177926", "UMLS:C5680504", "medgen:1843218"], "information_content": 100.0}
{"id": "MONDO:0008850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cooper-Jabs syndrome", "equivalent_identifiers": ["MONDO:0008850", "OMIM:209770", "orphanet:1488", "UMLS:C1859591", "UMLS:C4303864", "MESH:C565923", "SNOMEDCT:720748007", "medgen:347912"], "information_content": 100.0}
{"id": "orphanet:329971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized juvenile polyposis/juvenile polyposis coli", "equivalent_identifiers": ["orphanet:329971"]}
{"id": "HP:0030256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small intestinal polyposis", "equivalent_identifiers": ["HP:0030256", "UMLS:C4022555"], "information_content": 95.4}
{"id": "MONDO:0010531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contractures-ectodermal dysplasia-cleft lip/palate syndrome", "equivalent_identifiers": ["MONDO:0010531", "OMIM:301815", "orphanet:1484", "UMLS:C1844935", "UMLS:C2931745", "MESH:C535465", "MESH:C538135", "SNOMEDCT:720746006", "medgen:375546"], "information_content": 100.0}
{"id": "MONDO:0018793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary condylar hyperplasia", "equivalent_identifiers": ["MONDO:0018793", "orphanet:477781", "UMLS:C5568570", "SNOMEDCT:1186726000", "medgen:1799993"], "information_content": 100.0}
{"id": "HP:3000077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mandible condylar process morphology", "equivalent_identifiers": ["HP:3000077", "UMLS:C4073284"], "information_content": 88.2}
{"id": "MONDO:0008054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile dermatomyositis", "equivalent_identifiers": ["MONDO:0008054", "DOID:14203", "orphanet:93672", "EFO:0000557", "UMLS:C0263666", "MEDDRA:10008521", "MEDDRA:10078425", "NCIT:C27576", "SNOMEDCT:1212005", "medgen:120486", "icd11.foundation:1428089375", "ICD10:M33.0"], "information_content": 95.4}
{"id": "HP:0010853", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with periodic lateralized epileptiform discharges", "equivalent_identifiers": ["HP:0010853", "UMLS:C4021215"], "information_content": 100.0}
{"id": "MONDO:0018015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intermittent hydrarthrosis", "equivalent_identifiers": ["MONDO:0018015", "orphanet:329967", "UMLS:C0149910", "SNOMEDCT:711286009", "medgen:508453", "icd11.foundation:1855039383"], "information_content": 100.0}
{"id": "MONDO:0015784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2", "equivalent_identifiers": ["MONDO:0015784", "orphanet:177904", "UMLS:C5680508", "medgen:1826084"], "information_content": 100.0}
{"id": "HP:0031169", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Postterm pregnancy", "equivalent_identifiers": ["HP:0031169", "UMLS:C4477016"], "information_content": 100.0}
{"id": "HP:0012105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Occipital cortical atrophy", "equivalent_identifiers": ["HP:0012105", "UMLS:C4023040"], "information_content": 100.0}
{"id": "MONDO:0015783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1", "equivalent_identifiers": ["MONDO:0015783", "orphanet:177901", "UMLS:C5680507", "medgen:1826083"], "information_content": 100.0}
{"id": "HP:0012134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysplastic erythropoesis", "equivalent_identifiers": ["HP:0012134", "UMLS:C4023032"], "information_content": 100.0}
{"id": "MONDO:0015453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cogan syndrome", "equivalent_identifiers": ["MONDO:0015453", "DOID:0060216", "orphanet:1467", "UMLS:C0271270", "MESH:D055952", "MEDDRA:10056667", "SNOMEDCT:405810005", "medgen:82871", "icd11.foundation:2098089327", "ICD10:H16.32"], "information_content": 100.0}
{"id": "MONDO:0008926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COFS syndrome", "equivalent_identifiers": ["MONDO:0008926", "DOID:0080910", "OMIM.PS:214150", "orphanet:1466", "UMLS:C5399761", "NCIT:C3817", "SNOMEDCT:41283003", "medgen:1762238"], "information_content": 85.5}
{"id": "MONDO:0015452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome", "equivalent_identifiers": ["MONDO:0015452", "DOID:1925", "OMIM.PS:135900", "orphanet:1465", "UMLS:C0265338", "MESH:C536436", "MEDDRA:10083941", "NCIT:C35321", "SNOMEDCT:10007009", "medgen:75565", "icd11.foundation:734451870"], "information_content": 83.6}
{"id": "MONDO:0015449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "criss-cross heart", "equivalent_identifiers": ["MONDO:0015449", "orphanet:1461", "UMLS:C0010334", "MESH:D003420", "SNOMEDCT:253269002", "medgen:8181"], "information_content": 100.0}
{"id": "HP:0011347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of ocular abduction", "equivalent_identifiers": ["HP:0011347", "UMLS:C4023405"], "information_content": 92.8}
{"id": "HP:0011070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal molar morphology", "equivalent_identifiers": ["HP:0011070", "UMLS:C4023553"], "information_content": 82.6}
{"id": "HP:0011078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of canine", "equivalent_identifiers": ["HP:0011078", "UMLS:C4023546"], "information_content": 95.4}
{"id": "HP:0031353", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Otitis media with effusion", "equivalent_identifiers": ["HP:0031353"], "information_content": 100.0}
{"id": "MONDO:0008163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otofaciocervical syndrome", "equivalent_identifiers": ["MONDO:0008163", "OMIM.PS:166780", "orphanet:2792", "UMLS:C1833691", "MESH:C563481", "SNOMEDCT:763860004", "medgen:322257"], "information_content": 92.8}
{"id": "MONDO:0018740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug-induced methemoglobinemia", "equivalent_identifiers": ["MONDO:0018740", "orphanet:464453", "UMLS:C0472781", "NCIT:C101045", "SNOMEDCT:191390009", "medgen:632786", "icd11.foundation:746336827"], "information_content": 100.0}
{"id": "MONDO:0017200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic ovaries-urethral sphincter dysfunction syndrome", "equivalent_identifiers": ["MONDO:0017200", "orphanet:2795", "UMLS:C2931462", "MESH:C537271", "MEDDRA:10071718", "medgen:419813"], "information_content": 100.0}
{"id": "HP:0000795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the urethra", "equivalent_identifiers": ["HP:0000795", "UMLS:C4025826"], "information_content": 70.8}
{"id": "MONDO:0016620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hypertrophic osteoarthropathy", "equivalent_identifiers": ["MONDO:0016620", "DOID:14283", "OMIM.PS:259100", "orphanet:248095", "orphanet:2796", "UMLS:C0029411", "MESH:D010004", "MEDDRA:10051686", "NCIT:C85023", "SNOMEDCT:223726008", "SNOMEDCT:88220006", "medgen:18210", "icd11.foundation:792225761"], "information_content": 89.4}
{"id": "MONDO:0015786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome due to imprinting mutation", "equivalent_identifiers": ["MONDO:0015786", "orphanet:177910", "UMLS:C5680510", "medgen:1826086"], "information_content": 100.0}
{"id": "HP:0004039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ulnar metaphysis morphology", "equivalent_identifiers": ["HP:0004039", "UMLS:C4025424"], "information_content": 85.5}
{"id": "HP:0009852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad proximal phalanges of the hand", "equivalent_identifiers": ["HP:0009852", "UMLS:C4024181"], "information_content": 87.2}
{"id": "HP:0033850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coldness", "equivalent_identifiers": ["HP:0033850", "UMLS:C0812387", "MEDDRA:10008530", "MEDDRA:10009871", "MEDDRA:10009872", "SNOMEDCT:427733005"], "information_content": 100.0}
{"id": "HP:5200061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tactile hypersensitivity", "equivalent_identifiers": ["HP:5200061", "UMLS:C5826962"], "information_content": 100.0}
{"id": "HP:0003366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal femoral neck/head morphology", "equivalent_identifiers": ["HP:0003366", "UMLS:C4025622"], "information_content": 74.1}
{"id": "HP:0030551", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual acuity light perception with projection", "equivalent_identifiers": ["HP:0030551", "UMLS:C4073025"], "information_content": 100.0}
{"id": "MONDO:0100349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COACH syndrome", "equivalent_identifiers": ["MONDO:0100349", "DOID:0111589", "orphanet:1454", "UMLS:C1857662", "MESH:C536430", "SNOMEDCT:721847002", "medgen:387879"], "information_content": 90.9}
{"id": "MONDO:0100193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic liver failure", "equivalent_identifiers": ["MONDO:0100193", "EFO:1001311", "UMLS:C0745744", "UMLS:C2936476", "MESH:D058625", "MEDDRA:10050060", "MEDDRA:10057573", "NCIT:C84428", "SNOMEDCT:235886005", "SNOMEDCT:708248004", "medgen:423539", "HP:0100626"], "information_content": 100.0}
{"id": "HP:0005107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sacrum morphology", "equivalent_identifiers": ["HP:0005107", "UMLS:C4025250"], "information_content": 76.9}
{"id": "HP:0011219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short face", "equivalent_identifiers": ["HP:0011219", "UMLS:C4023457"], "information_content": 95.4}
{"id": "HP:0001911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal granulocyte morphology", "equivalent_identifiers": ["HP:0001911", "UMLS:C4551567"], "information_content": 67.3}
{"id": "MONDO:0015443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ROSE Cluster 8", "equivalent_identifiers": ["MONDO:0015443", "orphanet:1450", "UMLS:C2931633", "UMLS:C4054129", "UMLS:C4274902", "MESH:C537824", "NCIT:C121988", "NCIT:C175705", "SNOMEDCT:715983001", "medgen:895673"], "information_content": 100.0}
{"id": "MONDO:0015785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome due to translocation", "equivalent_identifiers": ["MONDO:0015785", "orphanet:177907", "UMLS:C5680509", "medgen:1826085"], "information_content": 100.0}
{"id": "orphanet:231080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High-grade dysplasia in patients with Barrett esophagus", "equivalent_identifiers": ["orphanet:231080"]}
{"id": "MONDO:0003615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nerve compression syndrome", "equivalent_identifiers": ["MONDO:0003615", "DOID:573", "EFO:0009487", "UMLS:C0027743", "UMLS:C1510429", "MESH:D009408", "MEDDRA:10014921", "MEDDRA:10088991", "NCIT:C27221", "SNOMEDCT:45781009", "medgen:266933", "HP:0012181"], "information_content": 87.2}
{"id": "MONDO:0011020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoporosis-oculocutaneous hypopigmentation syndrome", "equivalent_identifiers": ["MONDO:0011020", "OMIM:601220", "orphanet:2786", "UMLS:C1832592", "MESH:C536062", "SNOMEDCT:722113001", "medgen:331321"], "information_content": 100.0}
{"id": "HP:0012305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coarctation of the descending aortic arch", "equivalent_identifiers": ["HP:0012305", "UMLS:C4022958"], "information_content": 90.9}
{"id": "HP:0011103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal left ventricular outflow tract morphology", "equivalent_identifiers": ["HP:0011103", "UMLS:C0344916", "SNOMEDCT:253545000"], "information_content": 89.4}
{"id": "MONDO:0018394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "male infertility with teratozoospermia due to single gene mutation", "equivalent_identifiers": ["MONDO:0018394", "orphanet:399808", "UMLS:C4706677", "SNOMEDCT:764096006", "medgen:1643966"], "information_content": 88.2}
{"id": "HP:0000118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phenotypic abnormality", "equivalent_identifiers": ["HP:0000118", "UMLS:C4021819"], "information_content": 29.6}
{"id": "MONDO:0015437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 21", "equivalent_identifiers": ["MONDO:0015437", "orphanet:1445", "UMLS:C0265487", "UMLS:C2931422", "MESH:C537109", "NCIT:C186278", "SNOMEDCT:31325007", "medgen:419409"], "information_content": 100.0}
{"id": "MONDO:0015436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 20", "equivalent_identifiers": ["MONDO:0015436", "DOID:0070622", "orphanet:1444", "UMLS:C0265482", "MESH:C580424", "NCIT:C169001", "SNOMEDCT:23686004", "medgen:489853"], "information_content": 100.0}
{"id": "HP:0032671", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-convulsive status epilepticus without coma", "equivalent_identifiers": ["HP:0032671", "UMLS:C5397684"], "information_content": 84.8}
{"id": "MONDO:0017197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopathia striata-pigmentary dermopathy-white forelock syndrome", "equivalent_identifiers": ["MONDO:0017197", "orphanet:2779", "UMLS:C2931096", "MESH:C536054", "SNOMEDCT:787408008", "medgen:419711"], "information_content": 100.0}
{"id": "MONDO:0015435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 19", "equivalent_identifiers": ["MONDO:0015435", "orphanet:1443", "UMLS:C0795869", "UMLS:C2931812", "MESH:C538310", "SNOMEDCT:765484001", "medgen:419501"], "information_content": 100.0}
{"id": "MONDO:0015434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 18", "equivalent_identifiers": ["MONDO:0015434", "orphanet:1442", "UMLS:C0265475", "UMLS:C2931809", "MESH:C538304", "NCIT:C175706", "SNOMEDCT:88154004", "medgen:539285"], "information_content": 100.0}
{"id": "MONDO:0015433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 17", "equivalent_identifiers": ["MONDO:0015433", "orphanet:1441", "UMLS:C2931714", "MESH:C538046", "medgen:419477"], "information_content": 100.0}
{"id": "HP:0040159", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal spaced incisors", "equivalent_identifiers": ["HP:0040159", "UMLS:C4022410"], "information_content": 92.8}
{"id": "MONDO:0009092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly", "equivalent_identifiers": ["MONDO:0009092", "DOID:0090112", "OMIM.PS:221770", "orphanet:2770", "UMLS:C1857316", "MESH:C536329", "SNOMEDCT:702347001", "medgen:387795"], "information_content": 92.8}
{"id": "HP:0009124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal adipose tissue morphology", "equivalent_identifiers": ["HP:0009124", "UMLS:C4021524"], "information_content": 63.8}
{"id": "MONDO:0017195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bruck syndrome", "equivalent_identifiers": ["MONDO:0017195", "DOID:0060231", "OMIM.PS:259450", "orphanet:2771", "UMLS:C0432253", "MEDDRA:10063718", "SNOMEDCT:254113006", "medgen:609420", "icd11.foundation:1783996418", "ICD10:M21.8"], "information_content": 92.8}
{"id": "MONDO:0017196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0017196", "orphanet:2773", "UMLS:C2930952", "UMLS:C4302824", "MESH:C535617", "SNOMEDCT:722110003", "medgen:928493"], "information_content": 100.0}
{"id": "MONDO:0015441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ROSE Cluster 7", "equivalent_identifiers": ["MONDO:0015441", "orphanet:1449", "UMLS:C0795818", "UMLS:C2931622", "UMLS:C4050315", "MESH:C537813", "NCIT:C121986", "SNOMEDCT:765489006", "medgen:419454"], "information_content": 100.0}
{"id": "MONDO:0015440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ROSE Cluster 6", "equivalent_identifiers": ["MONDO:0015440", "orphanet:1448", "UMLS:C0795814", "UMLS:C4054130", "MESH:C537763", "NCIT:C121985", "SNOMEDCT:765488003", "medgen:167069"], "information_content": 100.0}
{"id": "HP:0100589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urogenital fistula", "equivalent_identifiers": ["HP:0100589", "NCIT:C9489", "UMLS:C0853877", "MEDDRA:10046696", "MEDDRA:10046698", "SNOMEDCT:735476006"], "information_content": 79.9}
{"id": "MONDO:0015439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ROSE Cluster 4", "equivalent_identifiers": ["MONDO:0015439", "orphanet:1447", "UMLS:C0265407", "UMLS:C4049710", "MESH:C537636", "NCIT:C121983", "SNOMEDCT:81678004", "medgen:75571"], "information_content": 100.0}
{"id": "MONDO:0009810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive distal osteolysis syndrome", "equivalent_identifiers": ["MONDO:0009810", "OMIM:259610", "orphanet:2776", "UMLS:C1850143", "MESH:C536052", "SNOMEDCT:715487005", "medgen:376714", "icd11.foundation:1878981266"], "information_content": 100.0}
{"id": "MONDO:0015438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 22", "equivalent_identifiers": ["MONDO:0015438", "orphanet:1446", "UMLS:C0265492", "UMLS:C2931325", "MESH:C536795", "NCIT:C179702", "SNOMEDCT:13555004", "medgen:539299"], "information_content": 100.0}
{"id": "MONDO:0017792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "7p22.1 microduplication syndrome", "equivalent_identifiers": ["MONDO:0017792", "orphanet:314034", "UMLS:C4707093", "SNOMEDCT:764703002", "medgen:1641886"], "information_content": 100.0}
{"id": "MONDO:0018569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome", "equivalent_identifiers": ["MONDO:0018569", "orphanet:435938", "UMLS:C5681178", "SNOMEDCT:1197588008", "medgen:1812501"], "information_content": 100.0}
{"id": "MONDO:0018747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0018747", "DOID:4313", "orphanet:46487", "EFO:1000691", "UMLS:C0079293", "MESH:D016107", "MEDDRA:10056508", "MEDDRA:10074980", "NCIT:C84690", "SNOMEDCT:2772003", "medgen:37178", "icd11.foundation:2034586329", "ICD10:L12.3"], "information_content": 100.0}
{"id": "MONDO:0018748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "linear IgA Dermatosis", "equivalent_identifiers": ["MONDO:0018748", "orphanet:46488", "EFO:0009313", "UMLS:C0406650", "MESH:D062027", "MEDDRA:10024512", "MEDDRA:10024513", "MEDDRA:10024515", "MEDDRA:10048601", "SNOMEDCT:95330001", "medgen:473106", "icd11.foundation:1802341051"], "information_content": 100.0}
{"id": "HP:4000027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-LAD-1 antibody positivity", "equivalent_identifiers": ["HP:4000027", "UMLS:C5539876"], "information_content": 100.0}
{"id": "HP:4000028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-LABD97 antibody positivity", "equivalent_identifiers": ["HP:4000028", "UMLS:C5539877"], "information_content": 100.0}
{"id": "MONDO:0018746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucous membrane pemphigoid", "equivalent_identifiers": ["MONDO:0018746", "DOID:11656", "orphanet:46486", "EFO:1000680", "UMLS:C0030804", "UMLS:C0157721", "MESH:D010390", "MEDDRA:10004294", "MEDDRA:10057052", "MEDDRA:10067776", "MEDDRA:10087064", "NCIT:C34907", "SNOMEDCT:34250006", "SNOMEDCT:76092003", "medgen:10619", "icd11.foundation:1456138933", "ICD10:L12.1", "ICD9:694.6", "ICD9:694.61"], "information_content": 95.4}
{"id": "MONDO:0015428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroidal atrophy-alopecia syndrome", "equivalent_identifiers": ["MONDO:0015428", "orphanet:1433", "UMLS:C2931026", "MESH:C535810", "SNOMEDCT:720850008", "medgen:419316"], "information_content": 100.0}
{"id": "HP:0100804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ungual fibroma", "equivalent_identifiers": ["HP:0100804", "UMLS:C0442880", "MEDDRA:10080585", "MEDDRA:10080586", "SNOMEDCT:264561009"], "information_content": 100.0}
{"id": "HP:0010793", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid nail", "equivalent_identifiers": ["HP:0010793", "UMLS:C0544857", "SNOMEDCT:110992006"], "information_content": 100.0}
{"id": "MONDO:0017194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blount disease", "equivalent_identifiers": ["MONDO:0017194", "DOID:14798", "orphanet:2768", "UMLS:C0175756", "MESH:C536237", "MEDDRA:10072255", "MEDDRA:10072257", "NCIT:C118460", "SNOMEDCT:1344797002", "SNOMEDCT:79353000", "medgen:104499", "icd11.foundation:138830223"], "information_content": 92.8}
{"id": "HP:0006491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tibial metaphysis morphology", "equivalent_identifiers": ["HP:0006491", "UMLS:C4025038"], "information_content": 92.8}
{"id": "MONDO:0009801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial osteodysplasia, Anderson type", "equivalent_identifiers": ["MONDO:0009801", "OMIM:259250", "orphanet:2769", "UMLS:C1850186", "MESH:C564923", "SNOMEDCT:773278003", "medgen:337990", "icd11.foundation:107132680"], "information_content": 100.0}
{"id": "MONDO:0019801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal Crisis", "equivalent_identifiers": ["MONDO:0019801", "orphanet:95409", "UMLS:C0151467", "MEDDRA:10001133", "MEDDRA:10001346", "MEDDRA:10001389", "MEDDRA:10011394", "NCIT:C112840", "SNOMEDCT:24867002", "SNOMEDCT:766986002", "medgen:56227", "icd11.foundation:114442391"], "information_content": 92.8}
{"id": "MONDO:0015432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 12", "equivalent_identifiers": ["MONDO:0015432", "orphanet:1439", "UMLS:C0795843", "MESH:C538298", "medgen:162879"], "information_content": 100.0}
{"id": "HP:0004207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal 5th finger morphology", "equivalent_identifiers": ["HP:0004207", "UMLS:C4021678"], "information_content": 67.4}
{"id": "MONDO:0015431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 10", "equivalent_identifiers": ["MONDO:0015431", "orphanet:1438", "UMLS:C0265438", "UMLS:C2931727", "MESH:C538086", "SNOMEDCT:86997002", "medgen:539252"], "information_content": 100.0}
{"id": "MONDO:0001223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parathyroid gland disorder", "equivalent_identifiers": ["MONDO:0001223", "DOID:11201", "EFO:0005754", "UMLS:C0030517", "UMLS:C4025822", "MESH:D010279", "MEDDRA:10013251", "MEDDRA:10013905", "MEDDRA:10033942", "MEDDRA:10033943", "MEDDRA:10033949", "MEDDRA:10045819", "NCIT:C26844", "SNOMEDCT:73132005", "medgen:893009", "ICD10:E21.5", "ICD9:252.9", "HP:0000828"], "information_content": 73.3}
{"id": "MONDO:0015430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 1", "equivalent_identifiers": ["MONDO:0015430", "orphanet:1437", "UMLS:C0265395", "UMLS:C1519099", "MESH:C535361", "SNOMEDCT:47017007", "medgen:539215"], "information_content": 100.0}
{"id": "orphanet:399805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Male infertility with azoospermia or oligozoospermia due to single gene mutation", "equivalent_identifiers": ["orphanet:399805"]}
{"id": "HP:0011843", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal musculoskeletal physiology", "equivalent_identifiers": ["HP:0011843", "UMLS:C4023164", "UMLS:C5421557"], "information_content": 59.3}
{"id": "HP:0030532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual acuity test abnormality", "equivalent_identifiers": ["HP:0030532", "UMLS:C4073006"], "information_content": 73.9}
{"id": "HP:0010625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior pituitary dysgenesis", "equivalent_identifiers": ["HP:0010625", "UMLS:C0032008", "UMLS:C4023771", "SNOMEDCT:62818001"], "information_content": 90.9}
{"id": "MONDO:0016214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome", "equivalent_identifiers": ["MONDO:0016214", "orphanet:210136", "UMLS:C4510085", "SNOMEDCT:723829000", "medgen:1385709"], "information_content": 100.0}
{"id": "HP:0006707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the hepatic vasculature", "equivalent_identifiers": ["HP:0006707", "UMLS:C4024994"], "information_content": 78.5}
{"id": "MONDO:0015425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal recessive chondrodysplasia", "equivalent_identifiers": ["MONDO:0015425", "orphanet:1423", "UMLS:C4304745", "SNOMEDCT:719404009", "medgen:930414", "icd11.foundation:550352998"], "information_content": 100.0}
{"id": "HP:0003950", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared elbow metaphyses", "equivalent_identifiers": ["HP:0003950", "UMLS:C4025484"], "information_content": 100.0}
{"id": "orphanet:220386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Semilobar holoprosencephaly", "equivalent_identifiers": ["orphanet:220386"]}
{"id": "HP:0011442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal central motor function", "equivalent_identifiers": ["HP:0011442", "UMLS:C4023354"], "information_content": 58.0}
{"id": "HP:0012285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hypothalamus physiology", "equivalent_identifiers": ["HP:0012285", "UMLS:C4022968"], "information_content": 87.2}
{"id": "HP:0040327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the olfactory bulb", "equivalent_identifiers": ["HP:0040327", "UMLS:C4477050"], "information_content": 88.2}
{"id": "HP:0031860", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal heart rate variability", "equivalent_identifiers": ["HP:0031860", "UMLS:C4703579"], "information_content": 92.8}
{"id": "MONDO:0017162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "imperforate oropharynx-costo vetebral anomalies syndrome", "equivalent_identifiers": ["MONDO:0017162", "orphanet:2759", "UMLS:C4749770", "SNOMEDCT:771185000", "medgen:1663228"], "information_content": 100.0}
{"id": "HP:0009896", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal antitragus morphology", "equivalent_identifiers": ["HP:0009896", "UMLS:C4024167", "UMLS:C5676598"], "information_content": 88.2}
{"id": "HP:0010295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the tongue", "equivalent_identifiers": ["HP:0010295", "UMLS:C4023916", "UMLS:C4280384"], "information_content": 88.2}
{"id": "MONDO:0018182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bullous impetigo", "equivalent_identifiers": ["MONDO:0018182", "orphanet:36237", "UMLS:C0021100", "UMLS:C1542647", "MEDDRA:10006563", "MEDDRA:10021532", "SNOMEDCT:399183005", "medgen:507838", "icd11.foundation:1398484288"], "information_content": 100.0}
{"id": "MONDO:0018183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "staphylococcal necrotizing pneumonia", "equivalent_identifiers": ["MONDO:0018183", "orphanet:36238", "UMLS:C4706659", "SNOMEDCT:763888005", "medgen:1637863"], "information_content": 100.0}
{"id": "MONDO:0005229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bacteriemia", "equivalent_identifiers": ["MONDO:0005229", "DOID:0040085", "EFO:0003033", "UMLS:C0004610", "MESH:D016470", "MEDDRA:10003997", "MEDDRA:10003998", "MEDDRA:10003999", "MEDDRA:10045641", "MEDDRA:10045642", "MEDDRA:10060562", "NCIT:C102993", "SNOMEDCT:5758002", "medgen:482", "ICD9:995.91", "HP:0031864"], "information_content": 85.5}
{"id": "HP:0032308", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating procalcitonin concentration", "equivalent_identifiers": ["HP:0032308", "UMLS:C5139263"], "information_content": 100.0}
{"id": "MONDO:0021192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "odontogenic neoplasm", "equivalent_identifiers": ["MONDO:0021192", "UMLS:C0028880", "MESH:D009808", "NCIT:C3286", "SNOMEDCT:127578009", "SNOMEDCT:3833004", "medgen:10426", "HP:0100612"], "information_content": 72.6}
{"id": "HP:0010100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete duplication of hallux phalanx", "equivalent_identifiers": ["HP:0010100", "UMLS:C4021336"], "information_content": 92.8}
{"id": "HP:0410033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unilateral alveolar cleft of maxilla", "equivalent_identifiers": ["HP:0410033", "UMLS:C4477070"], "information_content": 100.0}
{"id": "MONDO:0008975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otospondylomegaepiphyseal dysplasia", "equivalent_identifiers": ["MONDO:0008975", "DOID:0080026", "OMIM.PS:184840", "orphanet:1427", "UMLS:C4520892", "MEDDRA:10084407", "SNOMEDCT:254060000", "medgen:1617409", "icd11.foundation:1885284987"], "information_content": 92.8}
{"id": "HP:0100569", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally ossified vertebrae", "equivalent_identifiers": ["HP:0100569", "UMLS:C4020966"], "information_content": 83.6}
{"id": "HP:0009106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pelvis bone ossification", "equivalent_identifiers": ["HP:0009106", "UMLS:C4021525", "UMLS:C4280402"], "information_content": 89.4}
{"id": "MONDO:0001881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "septic shock", "equivalent_identifiers": ["MONDO:0001881", "DOID:14115", "orphanet:36234", "EFO:0006834", "UMLS:C0036983", "UMLS:C0600327", "MESH:D012772", "MEDDRA:10040070", "MEDDRA:10040580", "MEDDRA:10042852", "MEDDRA:10044248", "MEDDRA:10044249", "NCIT:C35018", "NCIT:C35498", "SNOMEDCT:18504008", "SNOMEDCT:76571007", "medgen:109414", "icd11.foundation:114886962", "ICD10:A48.3", "ICD9:040.82", "ICD9:785.52"], "information_content": 92.8}
{"id": "HP:0011799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of facial soft tissue", "equivalent_identifiers": ["HP:0011799", "UMLS:C4023183"], "information_content": 69.0}
{"id": "HP:0032237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating myelocyte count", "equivalent_identifiers": ["HP:0032237", "UMLS:C5139216"], "information_content": 100.0}
{"id": "HP:0032238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating metamyelocyte count", "equivalent_identifiers": ["HP:0032238", "UMLS:C5139217"], "information_content": 100.0}
{"id": "HP:0032675", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute cutaneous wound", "equivalent_identifiers": ["HP:0032675", "UMLS:C5397687"], "information_content": 100.0}
{"id": "MONDO:0015426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Desbuquois dysplasia", "equivalent_identifiers": ["MONDO:0015426", "DOID:0060462", "OMIM.PS:251450", "orphanet:1425", "UMLS:C0432242", "MESH:C535943", "NCIT:C124056", "SNOMEDCT:254099008", "medgen:98479"], "information_content": 92.8}
{"id": "HP:0000168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the gingiva", "equivalent_identifiers": ["HP:0000168", "UMLS:C4021816"], "information_content": 77.1}
{"id": "HP:0005772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the tibia", "equivalent_identifiers": ["HP:0005772", "UMLS:C1969181"], "information_content": 87.2}
{"id": "HP:0030868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monorchism", "equivalent_identifiers": ["HP:0030868", "UMLS:C0266429", "MEDDRA:10055002", "MEDDRA:10055074", "SNOMEDCT:87310001"], "information_content": 100.0}
{"id": "HP:0011255", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent crus of helix", "equivalent_identifiers": ["HP:0011255", "UMLS:C4021185"], "information_content": 100.0}
{"id": "HP:0004404", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nipple", "equivalent_identifiers": ["HP:0004404", "UMLS:C3839073", "SNOMEDCT:700153004"], "information_content": 80.9}
{"id": "HP:0030503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular telangiectasia", "equivalent_identifiers": ["HP:0030503", "UMLS:C0339480", "MEDDRA:10064761", "MEDDRA:10081199", "SNOMEDCT:232024000"], "information_content": 100.0}
{"id": "HP:0040211", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal skin morphology of the palm", "equivalent_identifiers": ["HP:0040211", "UMLS:C4073159"], "information_content": 73.9}
{"id": "HP:0100872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the plantar skin of foot", "equivalent_identifiers": ["HP:0100872", "UMLS:C4020946"], "information_content": 76.5}
{"id": "HP:0010904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating histidine concentration", "equivalent_identifiers": ["HP:0010904", "UMLS:C4023662"], "information_content": 88.2}
{"id": "MONDO:0011810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "horizontal gaze palsy with progressive scoliosis", "equivalent_identifiers": ["MONDO:0011810", "OMIM.PS:607313", "orphanet:2744", "UMLS:C1846496", "MESH:C564593", "SNOMEDCT:702381007", "medgen:339538", "icd11.foundation:226403142"], "information_content": 92.8}
{"id": "MONDO:0044628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "six2-related frontonasal dysplasia", "equivalent_identifiers": ["MONDO:0044628", "orphanet:488437", "UMLS:C5567484", "SNOMEDCT:1172632008", "medgen:1798907"], "information_content": 100.0}
{"id": "HP:0009119", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the frontal sinuses", "equivalent_identifiers": ["HP:0009119", "UMLS:C4024588"], "information_content": 92.8}
{"id": "HP:0002693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal skull base morphology", "equivalent_identifiers": ["HP:0002693", "UMLS:C4025688"], "information_content": 61.1}
{"id": "MONDO:0017138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opitz G/BBB syndrome", "equivalent_identifiers": ["MONDO:0017138", "DOID:0080697", "orphanet:2745", "UMLS:C0175696", "NCIT:C125487", "SNOMEDCT:81771002", "KEGG.DISEASE:H00583"], "information_content": 95.4}
{"id": "HP:0100879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged ovaries", "equivalent_identifiers": ["HP:0100879", "UMLS:C0392039", "MEDDRA:10014849", "MEDDRA:10033157", "MEDDRA:10033285", "SNOMEDCT:66998000"], "information_content": 89.4}
{"id": "MONDO:0006460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroglossal duct cyst", "equivalent_identifiers": ["MONDO:0006460", "EFO:1000585", "UMLS:C0040124", "MESH:D013955", "MEDDRA:10051320", "MEDDRA:10051816", "NCIT:C85189", "SNOMEDCT:39462005", "medgen:11810", "HP:0010518"], "information_content": 95.4}
{"id": "MONDO:0008621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uncombable hair syndrome", "equivalent_identifiers": ["MONDO:0008621", "orphanet:1410", "UMLS:C0432347", "MESH:C536939", "SNOMEDCT:254230001", "medgen:96596", "icd11.foundation:244892708"], "information_content": 90.9}
{"id": "MONDO:0016356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse cutaneous systemic sclerosis", "equivalent_identifiers": ["MONDO:0016356", "orphanet:220393", "NCIT:C116791"], "information_content": 100.0}
{"id": "HP:0030142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal bowel sounds", "equivalent_identifiers": ["HP:0030142", "UMLS:C0159060", "MEDDRA:10000119", "MEDDRA:10006057", "SNOMEDCT:60612008"], "information_content": 89.4}
{"id": "MONDO:0018927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SUNCT syndrome", "equivalent_identifiers": ["MONDO:0018927", "orphanet:57145", "UMLS:C1262087", "MESH:D050798", "MEDDRA:10061981", "MEDDRA:10087308", "NCIT:C85174", "SNOMEDCT:725058003", "medgen:224724"], "information_content": 100.0}
{"id": "HP:0030766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ear pain", "equivalent_identifiers": ["HP:0030766", "NCIT:C37944", "UMLS:C0013456", "MEDDRA:10013992", "MEDDRA:10014020", "MEDDRA:10014037", "MEDDRA:10031304", "MEDDRA:10031305", "MEDDRA:10033393", "MEDDRA:10033423", "SNOMEDCT:16001004", "SNOMEDCT:162356005", "SNOMEDCT:301354004", "MESH:D004433"], "information_content": 95.4}
{"id": "HP:0010491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Digital constriction ring", "equivalent_identifiers": ["HP:0010491", "UMLS:C4021261"], "information_content": 100.0}
{"id": "HP:0025525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scaling skin on fingertip", "equivalent_identifiers": ["HP:0025525", "UMLS:C4476829"], "information_content": 100.0}
{"id": "HP:0004297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the biliary system", "equivalent_identifiers": ["HP:0004297", "UMLS:C0940767"], "information_content": 66.9}
{"id": "HP:0012437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal gallbladder morphology", "equivalent_identifiers": ["HP:0012437", "UMLS:C4022904"], "information_content": 75.2}
{"id": "HP:6000413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic ureteral orifice", "equivalent_identifiers": ["HP:6000413", "UMLS:C5937197"], "information_content": 100.0}
{"id": "HP:0003110", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of urine homeostasis", "equivalent_identifiers": ["HP:0003110", "UMLS:C4025655"], "information_content": 57.3}
{"id": "orphanet:276152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple endocrine neoplasia type 4", "equivalent_identifiers": ["orphanet:276152"]}
{"id": "HP:0012091", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of pancreas physiology", "equivalent_identifiers": ["HP:0012091", "UMLS:C4023048"], "information_content": 68.0}
{"id": "MONDO:0033682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0033682", "orphanet:508533", "UMLS:C5567899", "SNOMEDCT:1177175008", "medgen:1799322"], "information_content": 100.0}
{"id": "HP:0045060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia involving bones of the extremities", "equivalent_identifiers": ["HP:0045060", "UMLS:C4073181"], "information_content": 61.1}
{"id": "MONDO:0020460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired von willebrand syndrome", "equivalent_identifiers": ["MONDO:0020460", "DOID:0111146", "orphanet:99147", "UMLS:C0272362", "MEDDRA:10069495", "SNOMEDCT:234451005", "medgen:543999", "ICD10:D68.04"], "information_content": 100.0}
{"id": "HP:0030129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired ristocetin cofactor assay activity", "equivalent_identifiers": ["HP:0030129", "UMLS:C4022619"], "information_content": 100.0}
{"id": "HP:0030192", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of bulbar muscles", "equivalent_identifiers": ["HP:0030192", "UMLS:C4022591"], "information_content": 90.9}
{"id": "HP:0031466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impairment in personality functioning", "equivalent_identifiers": ["HP:0031466", "UMLS:C4531101"], "information_content": 85.5}
{"id": "HP:0410011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of masticatory muscle", "equivalent_identifiers": ["HP:0410011", "UMLS:C4073190"], "information_content": 82.6}
{"id": "HP:0012901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotonia of the jaw", "equivalent_identifiers": ["HP:0012901", "UMLS:C4022685"], "information_content": 100.0}
{"id": "HP:0012903", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotonia of the upper limb", "equivalent_identifiers": ["HP:0012903", "UMLS:C4022683"], "information_content": 100.0}
{"id": "MONDO:0003878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant choroid melanoma", "equivalent_identifiers": ["MONDO:0003878", "DOID:6438", "UMLS:C0346388", "MEDDRA:10008773", "MEDDRA:10027151", "NCIT:C4561", "SNOMEDCT:255021005", "medgen:138064", "HP:0012054"], "information_content": 85.5}
{"id": "MONDO:0021211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain neoplasm", "equivalent_identifiers": ["MONDO:0021211", "EFO:0003833", "UMLS:C0006118", "UMLS:C1527390", "MEDDRA:10006132", "MEDDRA:10006153", "MEDDRA:10006154", "MEDDRA:10006156", "MEDDRA:10029088", "MEDDRA:10061019", "MEDDRA:10061030", "MEDDRA:10088956", "MEDDRA:10088957", "NCIT:C2907", "NCIT:C4953", "SNOMEDCT:126952004", "SNOMEDCT:254935002", "medgen:14216", "HP:0030692"], "information_content": 57.2}
{"id": "HP:0011879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased platelet glycoprotein Ib-IX-V", "equivalent_identifiers": ["HP:0011879", "UMLS:C4023150"], "information_content": 100.0}
{"id": "MONDO:0008116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngeal muscular dystrophy", "equivalent_identifiers": ["MONDO:0008116", "DOID:11719", "OMIM.PS:164300", "orphanet:270", "UMLS:C0270952", "MESH:D039141", "MEDDRA:10052181", "SNOMEDCT:77097004", "medgen:75730", "icd11.foundation:1354386293", "ICD10:G71.09"], "information_content": 92.8}
{"id": "HP:0100304", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle fiber intranuclear inclusion bodies", "equivalent_identifiers": ["HP:0100304", "UMLS:C4022156"], "information_content": 100.0}
{"id": "HP:6001011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wet voice", "equivalent_identifiers": ["HP:6001011", "UMLS:C4304544", "SNOMEDCT:719647002"], "information_content": 100.0}
{"id": "MONDO:0015465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniometaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0015465", "DOID:0080033", "OMIM.PS:123000", "orphanet:1522", "UMLS:C0265292", "MESH:C537519", "SNOMEDCT:36601008", "medgen:82702", "icd11.foundation:305860050"], "information_content": 89.4}
{"id": "MONDO:0015464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofrontonasal dysplasia-Poland anomaly syndrome", "equivalent_identifiers": ["MONDO:0015464", "orphanet:1521", "UMLS:C4303859", "SNOMEDCT:720757001", "medgen:929528"], "information_content": 100.0}
{"id": "HP:0009116", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving bones of the skull", "equivalent_identifiers": ["HP:0009116", "UMLS:C4024591"], "information_content": 76.5}
{"id": "HP:0001464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the shoulder musculature", "equivalent_identifiers": ["HP:0001464", "UMLS:C4025772"], "information_content": 82.6}
{"id": "HP:0009930", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetry of the nares", "equivalent_identifiers": ["HP:0009930", "UMLS:C4024157"], "information_content": 100.0}
{"id": "HP:0012243", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal reproductive system morphology", "equivalent_identifiers": ["HP:0012243", "UMLS:C4021096"], "information_content": 52.4}
{"id": "HP:0030867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertical orbital dystopia", "equivalent_identifiers": ["HP:0030867", "UMLS:C0431460", "SNOMEDCT:253243008"], "information_content": 100.0}
{"id": "MONDO:0017312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome", "equivalent_identifiers": ["MONDO:0017312", "DOID:0050857", "OMIM.PS:233400", "orphanet:2855", "UMLS:C0685838", "MESH:C537286", "SNOMEDCT:93466004", "medgen:151934", "icd11.foundation:256968598"], "information_content": 86.3}
{"id": "HP:0009924", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the nose", "equivalent_identifiers": ["HP:0009924", "UMLS:C0685684", "UMLS:C4024159", "UMLS:C4280392", "SNOMEDCT:204519007", "SNOMEDCT:93278002"], "information_content": 81.3}
{"id": "MONDO:0009042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniotelencephalic dysplasia", "equivalent_identifiers": ["MONDO:0009042", "OMIM:218670", "orphanet:1528", "UMLS:C1857471", "MESH:C535597", "SNOMEDCT:715422002", "medgen:347462", "icd11.foundation:1684038717"], "information_content": 100.0}
{"id": "MONDO:0015467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis, Philadelphia type", "equivalent_identifiers": ["MONDO:0015467", "orphanet:1527", "UMLS:C1832590", "MESH:C563368", "SNOMEDCT:720818003", "medgen:321988", "icd11.foundation:234032200"], "information_content": 100.0}
{"id": "MONDO:0008756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia - intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008756", "DOID:0080627", "OMIM.PS:203650", "orphanet:2850", "UMLS:C2931280", "MESH:C536660", "SNOMEDCT:716191002", "medgen:444019"], "information_content": 89.4}
{"id": "MONDO:0001347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy", "equivalent_identifiers": ["MONDO:0001347", "DOID:11727", "OMIM.PS:158900", "orphanet:269", "UMLS:C0238288", "MESH:D020391", "MEDDRA:10064087", "NCIT:C84704", "SNOMEDCT:399091004", "medgen:65956", "icd11.foundation:621965073", "ICD10:G71.02"], "information_content": 88.2}
{"id": "HP:0030002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nocturnal lagophthalmos", "equivalent_identifiers": ["HP:0030002", "UMLS:C1563118", "SNOMEDCT:417740005"], "information_content": 100.0}
{"id": "MONDO:0015466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranio-osteoarthropathy", "equivalent_identifiers": ["MONDO:0015466", "orphanet:1525", "UMLS:C2678439", "UMLS:C2930922", "MESH:C535519", "SNOMEDCT:720753002", "medgen:394824", "icd11.foundation:225223076"], "information_content": 100.0}
{"id": "MONDO:0033683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0033683", "orphanet:508542", "UMLS:C5567897", "SNOMEDCT:1177173001", "medgen:1799320"], "information_content": 100.0}
{"id": "MONDO:0018899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior cortical atrophy", "equivalent_identifiers": ["MONDO:0018899", "orphanet:54247", "UMLS:C4275079", "MEDDRA:10078207", "MEDDRA:10078221", "SNOMEDCT:715574002", "medgen:909667", "icd11.foundation:377572273"], "information_content": 100.0}
{"id": "MONDO:0001712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alexia", "equivalent_identifiers": ["MONDO:0001712", "DOID:13417", "UMLS:C0002018", "UMLS:C0013388", "MESH:D004411", "MEDDRA:10001663", "SNOMEDCT:9236007", "medgen:1809", "icd11.foundation:262295178", "ICD9:315.01", "HP:0010523"], "information_content": 100.0}
{"id": "MONDO:0000671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "finger agnosia", "equivalent_identifiers": ["MONDO:0000671", "DOID:0060141", "UMLS:C0234509", "SNOMEDCT:3449007", "medgen:115960", "HP:0010525"], "information_content": 95.4}
{"id": "HP:0030217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limb apraxia", "equivalent_identifiers": ["HP:0030217", "UMLS:C4022574"], "information_content": 100.0}
{"id": "MONDO:0016830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy", "equivalent_identifiers": ["MONDO:0016830", "DOID:11726", "OMIM.PS:310300", "orphanet:261", "UMLS:C0410189", "MESH:D020389", "MEDDRA:10081544", "NCIT:C84685", "SNOMEDCT:111508004", "medgen:96078", "icd11.foundation:749295636"], "information_content": 82.6}
{"id": "HP:0030117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent muscle fiber emerin", "equivalent_identifiers": ["HP:0030117", "UMLS:C4022628"], "information_content": 100.0}
{"id": "MONDO:0017928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "9p13 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0017928", "orphanet:324313", "UMLS:C4707097", "SNOMEDCT:764725008", "medgen:1635922"], "information_content": 100.0}
{"id": "HP:3000022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal external ear cartilage morphology", "equivalent_identifiers": ["HP:3000022", "UMLS:C4073231"], "information_content": 82.1}
{"id": "orphanet:90796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY difference of sex development due to isolated 17,20-lyase deficiency", "equivalent_identifiers": ["orphanet:90796"]}
{"id": "HP:0012112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating corticosterone level", "equivalent_identifiers": ["HP:0012112", "UMLS:C4023037"], "information_content": 84.2}
{"id": "HP:0030349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating androgen concentration", "equivalent_identifiers": ["HP:0030349", "UMLS:C4072894"], "information_content": 89.4}
{"id": "HP:0011021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating enzyme concentration", "equivalent_identifiers": ["HP:0011021", "UMLS:C4023591"], "information_content": 81.7}
{"id": "HP:0031979", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine carbohydrate level", "equivalent_identifiers": ["HP:0031979", "UMLS:C4732788"], "information_content": 77.6}
{"id": "HP:0011013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating carbohydrate concentration", "equivalent_identifiers": ["HP:0011013", "UMLS:C4023599", "UMLS:C5139058"], "information_content": 73.3}
{"id": "HP:0031102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating antimullerian hormone concentration", "equivalent_identifiers": ["HP:0031102", "UMLS:C4476971"], "information_content": 100.0}
{"id": "MONDO:0017301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pericardial and diaphragmatic defect", "equivalent_identifiers": ["MONDO:0017301", "orphanet:2847", "UMLS:C4510305", "SNOMEDCT:724068001", "medgen:1373904"], "information_content": 100.0}
{"id": "HP:0011635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial diaphragmatic absence of pericardium", "equivalent_identifiers": ["HP:0011635", "UMLS:C4023254"], "information_content": 100.0}
{"id": "HP:0003940", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoarthritis of the elbow", "equivalent_identifiers": ["HP:0003940", "UMLS:C0409954", "MEDDRA:10014345", "SNOMEDCT:239866002"], "information_content": 100.0}
{"id": "HP:0008610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infantile sensorineural hearing impairment", "equivalent_identifiers": ["HP:0008610", "UMLS:C4021535"], "information_content": 100.0}
{"id": "HP:0012090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pancreas morphology", "equivalent_identifiers": ["HP:0012090", "UMLS:C4023049"], "information_content": 73.0}
{"id": "MONDO:0018900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticosteroid-sensitive aseptic abscess syndrome", "equivalent_identifiers": ["MONDO:0018900", "orphanet:54251", "UMLS:C4303863", "SNOMEDCT:720751000", "medgen:929532"], "information_content": 100.0}
{"id": "HP:0030347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating androgen level", "equivalent_identifiers": ["HP:0030347", "UMLS:C4072892"], "information_content": 79.3}
{"id": "HP:0500022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating dehydroepiandrosterone concentration", "equivalent_identifiers": ["HP:0500022", "UMLS:C4477081"], "information_content": 90.9}
{"id": "HP:0012881", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal labia majora morphology", "equivalent_identifiers": ["HP:0012881", "UMLS:C4022695"], "information_content": 83.1}
{"id": "HP:0011686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal coronary artery course", "equivalent_identifiers": ["HP:0011686", "UMLS:C0345122", "SNOMEDCT:253714001"], "information_content": 87.2}
{"id": "MONDO:0009032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia", "equivalent_identifiers": ["MONDO:0009032", "DOID:0050577", "OMIM.PS:218330", "orphanet:1515", "UMLS:C4551571", "MEDDRA:10089188", "MEDDRA:10089189", "NCIT:C129305", "SNOMEDCT:254093009", "medgen:1641011", "icd11.foundation:1588881145"], "information_content": 87.2}
{"id": "MONDO:0015463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniodigital syndrome-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0015463", "orphanet:1514", "UMLS:C1839311", "MESH:C537528", "SNOMEDCT:763665007", "medgen:333293"], "information_content": 100.0}
{"id": "HP:0010767", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacrococcygeal pilonidal abnormality", "equivalent_identifiers": ["HP:0010767", "UMLS:C4023709"], "information_content": 89.4}
{"id": "HP:0030091", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent muscle fiber merosin", "equivalent_identifiers": ["HP:0030091", "UMLS:C4021055"], "information_content": 100.0}
{"id": "HP:0032330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary 11-deoxycorticosterone level", "equivalent_identifiers": ["HP:0032330", "UMLS:C5139272"], "information_content": 100.0}
{"id": "MONDO:0009031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniodiaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0009031", "DOID:0080032", "OMIM:218300", "orphanet:1513", "UMLS:C0410539", "MESH:C562940", "NCIT:C131429", "SNOMEDCT:205506004", "medgen:96080", "icd11.foundation:505073582"], "information_content": 100.0}
{"id": "HP:0004012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature fusion of the radial epiphyseal plates", "equivalent_identifiers": ["HP:0004012", "UMLS:C4025446"], "information_content": 95.4}
{"id": "HP:0012417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypocapnia", "equivalent_identifiers": ["HP:0012417", "UMLS:C0085383", "MEDDRA:10005403", "MEDDRA:10007221", "MEDDRA:10020952", "MEDDRA:10020953", "SNOMEDCT:61031008", "MESH:D016857"], "information_content": 95.4}
{"id": "HP:0031066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ovarian physiology", "equivalent_identifiers": ["HP:0031066", "UMLS:C4476945"], "information_content": 78.8}
{"id": "MONDO:0009028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crane-Heise syndrome", "equivalent_identifiers": ["MONDO:0009028", "OMIM:218090", "orphanet:1512", "UMLS:C1857532", "MESH:C536452", "SNOMEDCT:715991005", "medgen:387847"], "information_content": 100.0}
{"id": "MONDO:0017575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial neurogastrointestinal encephalomyopathy", "equivalent_identifiers": ["MONDO:0017575", "orphanet:298", "UMLS:C0872218", "MESH:C537477", "MEDDRA:10065271", "NCIT:C119678", "SNOMEDCT:718214007", "medgen:167876"], "information_content": 89.4}
{"id": "HP:0025149", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophic muscularis propria", "equivalent_identifiers": ["HP:0025149", "UMLS:C4476616", "UMLS:C4476617", "UMLS:C4476618"], "information_content": 100.0}
{"id": "HP:0008049", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the extraocular muscles", "equivalent_identifiers": ["HP:0008049", "UMLS:C4024751"], "information_content": 76.5}
{"id": "MONDO:0017219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microform holoprosencephaly", "equivalent_identifiers": ["MONDO:0017219", "DOID:0111380", "orphanet:280200", "UMLS:C5393309", "SNOMEDCT:1197215004", "medgen:1711978", "icd11.foundation:44293173"], "information_content": 90.9}
{"id": "HP:0011719", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supracardiac total anomalous pulmonary venous connection", "equivalent_identifiers": ["HP:0011719", "UMLS:C4021131"], "information_content": 100.0}
{"id": "HP:0011721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infracardiac total anomalous pulmonary venous connection", "equivalent_identifiers": ["HP:0011721", "UMLS:C4021129"], "information_content": 100.0}
{"id": "HP:0011722", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mixed total anomalous pulmonary venous connection", "equivalent_identifiers": ["HP:0011722", "UMLS:C4021128"], "information_content": 100.0}
{"id": "MONDO:0017453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal parvovirus syndrome", "equivalent_identifiers": ["MONDO:0017453", "orphanet:295", "UMLS:C2931167", "MESH:C536301", "SNOMEDCT:715197005", "medgen:443992", "icd11.foundation:648536096"], "information_content": 100.0}
{"id": "MONDO:0018051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jessner lymphocytic infiltration of the skin", "equivalent_identifiers": ["MONDO:0018051", "orphanet:33314", "UMLS:C0580181", "MEDDRA:10063628", "SNOMEDCT:19719003", "medgen:663150", "icd11.foundation:1624135677"], "information_content": 100.0}
{"id": "MONDO:0017409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal cytomegalovirus syndrome", "equivalent_identifiers": ["MONDO:0017409", "orphanet:294", "UMLS:C0158945", "UMLS:C0349499", "MEDDRA:10010420", "MEDDRA:10010430", "MEDDRA:10011828", "MEDDRA:10011832", "NCIT:C122427", "SNOMEDCT:276701009", "SNOMEDCT:59527008", "medgen:578789", "icd11.foundation:1515465998"], "information_content": 100.0}
{"id": "MONDO:0017572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tick-borne encephalitis", "equivalent_identifiers": ["MONDO:0017572", "DOID:0050175", "orphanet:297", "EFO:1001309", "UMLS:C0014054", "UMLS:C0014061", "UMLS:C0015632", "MESH:D004675", "MEDDRA:10007931", "MEDDRA:10043847", "MEDDRA:10043848", "MEDDRA:10056378", "MEDDRA:10056421", "NCIT:C34579", "SNOMEDCT:16901001", "SNOMEDCT:186591007", "SNOMEDCT:414093008", "SNOMEDCT:415821008", "medgen:4034", "icd11.foundation:835129952", "ICD10:A84.1", "ICD9:063.2"], "information_content": 100.0}
{"id": "HP:0011112", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating cytokine concentration", "equivalent_identifiers": ["HP:0011112", "UMLS:C4023535", "MP:0010210"], "information_content": 69.7}
{"id": "HP:0011392", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the vestibular nerve", "equivalent_identifiers": ["HP:0011392", "UMLS:C4023379"], "information_content": 89.4}
{"id": "HP:0032044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased vigilance", "equivalent_identifiers": ["HP:0032044", "UMLS:C0920048", "MEDDRA:10003740", "MEDDRA:10049875", "MEDDRA:10050400"], "information_content": 100.0}
{"id": "HP:3000047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal glossopharyngeal nerve morphology", "equivalent_identifiers": ["HP:3000047", "UMLS:C4073255"], "information_content": 95.4}
{"id": "MONDO:0021718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyneuritis", "equivalent_identifiers": ["MONDO:0021718", "UMLS:C0032541", "MEDDRA:10036104", "NCIT:C26864", "SNOMEDCT:76886005", "medgen:46005", "HP:0031003"], "information_content": 88.2}
{"id": "MONDO:0019880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal trisomy 5q", "equivalent_identifiers": ["MONDO:0019880", "orphanet:96097", "UMLS:C4706363", "SNOMEDCT:763274002", "medgen:1646186"], "information_content": 100.0}
{"id": "HP:0011466", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the gallbladder", "equivalent_identifiers": ["HP:0011466", "UMLS:C4023344"], "information_content": 89.4}
{"id": "MONDO:0017372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital varicella syndrome", "equivalent_identifiers": ["MONDO:0017372", "orphanet:291", "UMLS:C0343560", "NCIT:C116800", "SNOMEDCT:277644009", "medgen:87473", "icd11.foundation:2071159826"], "information_content": 100.0}
{"id": "MONDO:0017361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital rubella syndrome", "equivalent_identifiers": ["MONDO:0017361", "orphanet:290", "EFO:0007218", "UMLS:C0035921", "MESH:D012410", "MEDDRA:10010618", "MEDDRA:10083496", "NCIT:C34992", "SNOMEDCT:1857005", "medgen:19841", "icd11.foundation:1059053724"], "information_content": 100.0}
{"id": "HP:0004414", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the pulmonary artery", "equivalent_identifiers": ["HP:0004414", "UMLS:C0009681", "MEDDRA:10010598", "MEDDRA:10061074", "SNOMEDCT:128588008", "SNOMEDCT:198914002", "SNOMEDCT:36110001"], "information_content": 73.1}
{"id": "MONDO:0017381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital herpes simplex virus infection", "equivalent_identifiers": ["MONDO:0017381", "orphanet:293", "UMLS:C0276225", "MEDDRA:10019949", "SNOMEDCT:91576008", "medgen:82910"], "information_content": 100.0}
{"id": "MONDO:0017375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital enterovirus infection", "equivalent_identifiers": ["MONDO:0017375", "orphanet:292", "UMLS:C4274223", "SNOMEDCT:716865000", "medgen:904399", "icd11.foundation:1981771784"], "information_content": 100.0}
{"id": "HP:0025031", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the digestive system", "equivalent_identifiers": ["HP:0025031", "UMLS:C0266015", "SNOMEDCT:69518005", "MESH:D004065"], "information_content": 45.8}
{"id": "MONDO:0019876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "8p inverted duplication/deletion syndrome", "equivalent_identifiers": ["MONDO:0019876", "orphanet:96092", "UMLS:C4273676", "SNOMEDCT:718188007", "medgen:906101"], "information_content": 100.0}
{"id": "MONDO:0018216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018216", "DOID:0050880", "orphanet:363958", "MESH:C566476", "SNOMEDCT:717338006"], "information_content": 100.0}
{"id": "HP:0012699", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomaly of lower limb diaphyses", "equivalent_identifiers": ["HP:0012699", "UMLS:C4022767"], "information_content": 100.0}
{"id": "HP:0007407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excessive skin wrinkling on dorsum of hands and fingers", "equivalent_identifiers": ["HP:0007407", "UMLS:C1837467"], "information_content": 100.0}
{"id": "HP:0004426", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cheek morphology", "equivalent_identifiers": ["HP:0004426", "UMLS:C4025324"], "information_content": 71.7}
{"id": "MONDO:0100605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "POLR-related leukodystrophy", "equivalent_identifiers": ["MONDO:0100605", "orphanet:289494", "UMLS:C5679947", "SNOMEDCT:1208933000", "medgen:1803536"], "information_content": 84.2}
{"id": "MONDO:0010883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pectus excavatum-macrocephaly-dysplastic nails syndrome", "equivalent_identifiers": ["MONDO:0010883", "OMIM:600399", "orphanet:2835", "UMLS:C1838160", "UMLS:C2931302", "MESH:C536728", "MESH:C563941", "SNOMEDCT:763863002", "medgen:373902"], "information_content": 100.0}
{"id": "MONDO:0017281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal caliceal diverticuli-deafness syndrome", "equivalent_identifiers": ["MONDO:0017281", "orphanet:2838", "UMLS:C5190738", "SNOMEDCT:782942003", "medgen:1676118"], "information_content": 100.0}
{"id": "HP:0006710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the clavicles", "equivalent_identifiers": ["HP:0006710", "UMLS:C4024993"], "information_content": 87.2}
{"id": "HP:0006713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the scapulae", "equivalent_identifiers": ["HP:0006713", "UMLS:C4024991"], "information_content": 88.2}
{"id": "MONDO:0015462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thin ribs-tubular bones-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0015462", "orphanet:1506", "UMLS:C2931543", "MESH:C537595", "SNOMEDCT:783004003", "medgen:419105"], "information_content": 100.0}
{"id": "HP:0040329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multifocal hyperintensity of cerebral white matter on MRI", "equivalent_identifiers": ["HP:0040329", "UMLS:C4703611"], "information_content": 100.0}
{"id": "HP:0000080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of reproductive system physiology", "equivalent_identifiers": ["HP:0000080", "UMLS:C4020896", "UMLS:C4021820"], "information_content": 57.4}
{"id": "MONDO:0007522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, classic type", "equivalent_identifiers": ["MONDO:0007522", "orphanet:287", "UMLS:C4225429", "SNOMEDCT:715318006", "medgen:909864"], "information_content": 92.8}
{"id": "HP:0031653", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal heart valve physiology", "equivalent_identifiers": ["HP:0031653", "UMLS:C4703465"], "information_content": 73.1}
{"id": "HP:0006703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the lungs", "equivalent_identifiers": ["HP:0006703", "UMLS:C4024996"], "information_content": 87.2}
{"id": "MONDO:0017221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Connatal PMD", "equivalent_identifiers": ["MONDO:0017221", "orphanet:280210", "UMLS:C5679776", "medgen:1842817", "icd11.foundation:1118374715"], "information_content": 100.0}
{"id": "HP:0031954", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystonic gait", "equivalent_identifiers": ["HP:0031954", "UMLS:C0427163", "SNOMEDCT:250042005"], "information_content": 92.8}
{"id": "HP:0040330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Confluent hyperintensity of cerebral white matter on MRI", "equivalent_identifiers": ["HP:0040330", "UMLS:C4703612"], "information_content": 100.0}
{"id": "HP:0430015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of musculature of pharynx", "equivalent_identifiers": ["HP:0430015", "UMLS:C4073197"], "information_content": 80.9}
{"id": "MONDO:0017282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alveolar echinococcosis", "equivalent_identifiers": ["MONDO:0017282", "DOID:12148", "orphanet:284", "UMLS:C0152069", "MESH:C536591", "MEDDRA:10014109", "MEDDRA:10053042", "SNOMEDCT:21009004", "medgen:508867", "icd11.foundation:1407575161", "ICD10:B67.7", "ICD9:122.7"], "information_content": 100.0}
{"id": "HP:0011732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal adrenal morphology", "equivalent_identifiers": ["HP:0011732", "UMLS:C4023213"], "information_content": 73.3}
{"id": "HP:0025487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal bladder morphology", "equivalent_identifiers": ["HP:0025487", "UMLS:C4476807"], "information_content": 75.8}
{"id": "HP:0100016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mesentery morphology", "equivalent_identifiers": ["HP:0100016", "UMLS:C4022389", "UMLS:C4293672"], "information_content": 89.4}
{"id": "MONDO:0017314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, vascular type", "equivalent_identifiers": ["MONDO:0017314", "orphanet:286", "UMLS:C0268338", "MESH:D000094623", "NCIT:C125699", "SNOMEDCT:17025000", "medgen:82790", "icd11.foundation:1202686415"], "information_content": 92.8}
{"id": "HP:0100823", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genital hernia", "equivalent_identifiers": ["HP:0100823", "UMLS:C4021962"], "information_content": 88.2}
{"id": "MONDO:0000082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvic organ prolapse", "equivalent_identifiers": ["MONDO:0000082", "EFO:0004710", "UMLS:C0404541", "UMLS:C0877015", "MESH:D056887", "MEDDRA:10048670", "MEDDRA:10086381", "SNOMEDCT:237113009", "medgen:209090", "icd11.foundation:148580117", "HP:0031607"], "information_content": 92.8}
{"id": "MONDO:0010049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia-glaucoma-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010049", "OMIM:270850", "orphanet:2818", "UMLS:C1849113", "MESH:C564809", "medgen:376520"], "information_content": 100.0}
{"id": "MONDO:0017275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia-facial-cutaneous lesions syndrome", "equivalent_identifiers": ["MONDO:0017275", "orphanet:2819", "UMLS:C2931617", "MESH:C537797", "SNOMEDCT:763403007", "medgen:419453"], "information_content": 100.0}
{"id": "HP:0010510", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypermobility of toe joints", "equivalent_identifiers": ["HP:0010510", "UMLS:C4023798"], "information_content": 100.0}
{"id": "HP:0025058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypothalamic atrophy", "equivalent_identifiers": ["HP:0025058", "UMLS:C4476574"], "information_content": 100.0}
{"id": "HP:0045007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal substantia nigra morphology", "equivalent_identifiers": ["HP:0045007", "UMLS:C4022403"], "information_content": 78.8}
{"id": "HP:0012547", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal involuntary eye movements", "equivalent_identifiers": ["HP:0012547", "UMLS:C4022855"], "information_content": 78.0}
{"id": "MONDO:0008443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia-precocious puberty syndrome", "equivalent_identifiers": ["MONDO:0008443", "OMIM:182820", "orphanet:2826", "UMLS:C1866850", "MESH:C536874", "medgen:401096"], "information_content": 100.0}
{"id": "HP:0010791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplasia of the Leydig cells", "equivalent_identifiers": ["HP:0010791", "UMLS:C0023600", "SNOMEDCT:733539007", "SNOMEDCT:76085008"], "information_content": 100.0}
{"id": "MONDO:0017279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "young-onset Parkinson disease", "equivalent_identifiers": ["MONDO:0017279", "DOID:0060894", "orphanet:2828", "UMLS:C4275179", "SNOMEDCT:715345007", "medgen:907947"], "information_content": 81.3}
{"id": "MONDO:0020435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect, coronary sinus type", "equivalent_identifiers": ["MONDO:0020435", "orphanet:99104", "UMLS:C0265870", "UMLS:C2063331", "SNOMEDCT:40272001", "medgen:488986", "icd11.foundation:664625334", "HP:0011643"], "information_content": 100.0}
{"id": "HP:0031634", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of the left common carotid artery from the main pulmonary artery", "equivalent_identifiers": ["HP:0031634", "UMLS:C4703453"], "information_content": 100.0}
{"id": "HP:0031663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paradoxical splitting of the second heart sound", "equivalent_identifiers": ["HP:0031663", "NCIT:C168071", "UMLS:C0232236", "SNOMEDCT:57517007"], "information_content": 100.0}
{"id": "HP:0011700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Automatic atrial tachycardia", "equivalent_identifiers": ["HP:0011700", "NCIT:C99113", "UMLS:C0039234", "MEDDRA:10072365", "SNOMEDCT:233892002", "MESH:D013612"], "information_content": 100.0}
{"id": "HP:0031595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal P wave", "equivalent_identifiers": ["HP:0031595", "UMLS:C4703432"], "information_content": 87.2}
{"id": "HP:0031658", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Third heart sound", "equivalent_identifiers": ["HP:0031658", "UMLS:C0232237", "MEDDRA:10050135", "SNOMEDCT:1285004", "SNOMEDCT:277455002"], "information_content": 100.0}
{"id": "HP:0031662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fixed splitting of the second heart sound", "equivalent_identifiers": ["HP:0031662", "NCIT:C168068", "UMLS:C0232235", "SNOMEDCT:44531008"], "information_content": 100.0}
{"id": "MONDO:0008440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia-nephritis-deafness syndrome", "equivalent_identifiers": ["MONDO:0008440", "OMIM:182690", "orphanet:2820", "UMLS:C1866853", "UMLS:C2931667", "MESH:C537937", "MESH:C566682", "SNOMEDCT:733089005", "medgen:355816"], "information_content": 100.0}
{"id": "HP:0031705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compensatory head posture", "equivalent_identifiers": ["HP:0031705", "UMLS:C4703721"], "information_content": 87.2}
{"id": "HP:0031090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finger dactylitis", "equivalent_identifiers": ["HP:0031090", "UMLS:C3863761", "SNOMEDCT:328211000119107"], "information_content": 100.0}
{"id": "HP:0009602", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of thumb phalanx", "equivalent_identifiers": ["HP:0009602", "UMLS:C4021428"], "information_content": 70.9}
{"id": "HP:5200060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Auditory hypersensitivity", "equivalent_identifiers": ["HP:5200060", "UMLS:C3843207"], "information_content": 90.9}
{"id": "HP:0012086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urinary color", "equivalent_identifiers": ["HP:0012086", "NCIT:C78678", "UMLS:C0522153", "MEDDRA:10013080", "MEDDRA:10046628", "MEDDRA:10046629", "MEDDRA:10056126", "MEDDRA:10064748", "MEDDRA:10064752", "SNOMEDCT:102867009", "SNOMEDCT:167239007"], "information_content": 83.1}
{"id": "MONDO:0017223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelizaeus-Merzbacher disease, transitional form", "equivalent_identifiers": ["MONDO:0017223", "orphanet:280224", "UMLS:C0751917", "medgen:199764", "icd11.foundation:1471805474"], "information_content": 100.0}
{"id": "MONDO:0016472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dracunculiasis", "equivalent_identifiers": ["MONDO:0016472", "DOID:14418", "orphanet:231", "EFO:0007241", "UMLS:C0013100", "MESH:D004320", "MEDDRA:10013617", "MEDDRA:10013618", "MEDDRA:10091202", "NCIT:C84677", "SNOMEDCT:396334002", "medgen:41653", "icd11.foundation:1662537619", "ICD10:B72", "ICD9:125.7"], "information_content": 100.0}
{"id": "HP:0012670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orthostatic syncope", "equivalent_identifiers": ["HP:0012670", "UMLS:C0749201", "MEDDRA:10085825"], "information_content": 100.0}
{"id": "MONDO:0024559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm, familial thoracic 1", "equivalent_identifiers": ["MONDO:0024559", "OMIM:607086", "orphanet:229", "UMLS:C0345050", "MESH:C562834", "SNOMEDCT:253646008", "medgen:91038"], "information_content": 100.0}
{"id": "MONDO:0019625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial thoracic aortic aneurysm and aortic dissection", "equivalent_identifiers": ["MONDO:0019625", "OMIM.PS:607086", "orphanet:91387", "UMLS:C0392775", "UMLS:C4707243", "UMLS:C4760653", "MESH:C536230", "NCIT:C97064", "SNOMEDCT:45894003", "SNOMEDCT:764965000", "medgen:1644766", "HP:0200146"], "information_content": 84.8}
{"id": "MONDO:0017222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelizaeus-Merzbacher disease, classic form", "equivalent_identifiers": ["MONDO:0017222", "orphanet:280219", "UMLS:C0751916", "SNOMEDCT:87607002", "medgen:155959", "icd11.foundation:1613420896"], "information_content": 100.0}
{"id": "HP:0030275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic scrotum", "equivalent_identifiers": ["HP:0030275", "UMLS:C4022542"], "information_content": 100.0}
{"id": "MONDO:0016531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digestive duplication", "equivalent_identifiers": ["MONDO:0016531", "UMLS:C0266019", "SNOMEDCT:33257003", "medgen:451018", "HP:0011140"], "information_content": 89.4}
{"id": "MONDO:0016379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erosive pustular dermatosis of the scalp", "equivalent_identifiers": ["MONDO:0016379", "orphanet:222", "UMLS:C0406464", "MEDDRA:10088844", "SNOMEDCT:238733003", "medgen:96057", "icd11.foundation:982719772"], "information_content": 100.0}
{"id": "MONDO:0016367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatomyositis", "equivalent_identifiers": ["MONDO:0016367", "DOID:10223", "orphanet:221", "EFO:0000398", "UMLS:C0011633", "MESH:D003882", "MEDDRA:10012503", "NCIT:C197520", "NCIT:C26744", "SNOMEDCT:396230008", "medgen:8331", "icd11.foundation:739030149", "ICD10:M33", "ICD9:710.3"], "information_content": 82.6}
{"id": "HP:0025508", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gottron's papules", "equivalent_identifiers": ["HP:0025508", "UMLS:C0423781", "MEDDRA:10056954", "SNOMEDCT:247455006"], "information_content": 100.0}
{"id": "HP:0025535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shawl sign", "equivalent_identifiers": ["HP:0025535", "UMLS:C4476837"], "information_content": 100.0}
{"id": "HP:0034140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-SUMO-activating enzyme subunit 1 antibody positivity", "equivalent_identifiers": ["HP:0034140", "UMLS:C5676736"], "information_content": 100.0}
{"id": "HP:0034141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-SUMO-activating enzyme subunit 2 antibody positivity", "equivalent_identifiers": ["HP:0034141", "UMLS:C5676737"], "information_content": 100.0}
{"id": "HP:0040324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heliotrope rash", "equivalent_identifiers": ["HP:0040324", "UMLS:C4477048", "MEDDRA:10081454"], "information_content": 95.4}
{"id": "HP:0025536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "V-sign", "equivalent_identifiers": ["HP:0025536", "UMLS:C4476838"], "information_content": 100.0}
{"id": "HP:0033033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-MDA5 antibody positivity", "equivalent_identifiers": ["HP:0033033", "UMLS:C5421562"], "information_content": 100.0}
{"id": "HP:0033554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Mi2 antibody positivity", "equivalent_identifiers": ["HP:0033554", "UMLS:C5539679"], "information_content": 100.0}
{"id": "HP:0034105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-transcription intermediary factor-1gamma antibody positivity", "equivalent_identifiers": ["HP:0034105", "UMLS:C5676701"], "information_content": 100.0}
{"id": "HP:0034139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-SUMO-activating enzyme antibody positivity", "equivalent_identifiers": ["HP:0034139", "UMLS:C5676735"], "information_content": 92.8}
{"id": "HP:0034142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-nuclear matrix protein-2 antibody positivity", "equivalent_identifiers": ["HP:0034142", "UMLS:C5676738"], "information_content": 100.0}
{"id": "HP:0430033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gottron sign", "equivalent_identifiers": ["HP:0430033", "UMLS:C4481819", "MEDDRA:10090851"], "information_content": 100.0}
{"id": "HP:6000006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Holster sign", "equivalent_identifiers": ["HP:6000006", "UMLS:C5936904"], "information_content": 100.0}
{"id": "MONDO:0017225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "null syndrome", "equivalent_identifiers": ["MONDO:0017225", "orphanet:280234", "UMLS:C5439441", "SNOMEDCT:1003447007", "medgen:1740046", "icd11.foundation:1663254692"], "information_content": 100.0}
{"id": "MONDO:0018370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "KLHL9-related early-onset distal myopathy", "equivalent_identifiers": ["MONDO:0018370", "orphanet:399081", "UMLS:C4706574", "SNOMEDCT:763776004", "medgen:1647584"], "information_content": 100.0}
{"id": "HP:0034499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased bone marrow iron", "equivalent_identifiers": ["HP:0034499", "UMLS:C1292133", "SNOMEDCT:110372005"], "information_content": 100.0}
{"id": "MONDO:0010708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pallister-W syndrome", "equivalent_identifiers": ["MONDO:0010708", "OMIM:311450", "orphanet:2804", "UMLS:C0796110", "MESH:C538106", "MEDDRA:10084236", "MEDDRA:10084239", "MEDDRA:10085223", "SNOMEDCT:719020006", "medgen:163215"], "information_content": 100.0}
{"id": "HP:0006293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of maxillary central incisor", "equivalent_identifiers": ["HP:0006293", "UMLS:C4025068", "UMLS:C4280458"], "information_content": 92.8}
{"id": "HP:0100037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the scalp hair", "equivalent_identifiers": ["HP:0100037", "UMLS:C4022384"], "information_content": 80.6}
{"id": "HP:0100268", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper lip pit", "equivalent_identifiers": ["HP:0100268", "UMLS:C4022176"], "information_content": 100.0}
{"id": "HP:0010856", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with periodic complexes", "equivalent_identifiers": ["HP:0010856", "UMLS:C4021212"], "information_content": 100.0}
{"id": "HP:0430088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-measles antibody positivity", "equivalent_identifiers": ["HP:0430088", "UMLS:C5936843"], "information_content": 100.0}
{"id": "HP:0012709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal brain choline/creatine ratio by MRS", "equivalent_identifiers": ["HP:0012709", "UMLS:C4022760"], "information_content": 100.0}
{"id": "HP:0100553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemihypertrophy of lower limb", "equivalent_identifiers": ["HP:0100553", "UMLS:C0431928", "SNOMEDCT:205369009"], "information_content": 100.0}
{"id": "HP:0100554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemihypertrophy of upper limb", "equivalent_identifiers": ["HP:0100554", "UMLS:C0431810", "SNOMEDCT:253920006"], "information_content": 100.0}
{"id": "MONDO:0017224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelizaeus-Merzbacher disease in female carriers", "equivalent_identifiers": ["MONDO:0017224", "orphanet:280229", "UMLS:C5438815", "SNOMEDCT:1003881009", "medgen:1753109", "icd11.foundation:1751389523"], "information_content": 100.0}
{"id": "HP:0032588", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hand apraxia", "equivalent_identifiers": ["HP:0032588", "UMLS:C5397612"], "information_content": 100.0}
{"id": "HP:0030638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital stationary night blindness with normal fundus", "equivalent_identifiers": ["HP:0030638", "UMLS:C4073105"], "information_content": 92.8}
{"id": "HP:0030639", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital stationary night blindness with abnormal fundus", "equivalent_identifiers": ["HP:0030639", "UMLS:C4073106"], "information_content": 95.4}
{"id": "HP:0012088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urinary odor", "equivalent_identifiers": ["HP:0012088", "UMLS:C0278045", "MEDDRA:10057135", "MEDDRA:10074143", "SNOMEDCT:8769003"], "information_content": 100.0}
{"id": "orphanet:300373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked acrogigantism", "equivalent_identifiers": ["orphanet:300373"]}
{"id": "HP:0012503", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pituitary gland morphology", "equivalent_identifiers": ["HP:0012503", "UMLS:C5779790"], "information_content": 66.2}
{"id": "HP:0025163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal optic chiasm morphology", "equivalent_identifiers": ["HP:0025163", "UMLS:C4476628"], "information_content": 80.2}
{"id": "HP:0012505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged pituitary gland", "equivalent_identifiers": ["HP:0012505", "UMLS:C0342422", "SNOMEDCT:237718009"], "information_content": 89.4}
{"id": "MONDO:0018053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy", "equivalent_identifiers": ["MONDO:0018053", "DOID:0111866", "OMIM.PS:601675", "orphanet:33364", "UMLS:C1955934", "MESH:D054463", "MEDDRA:10044628", "NCIT:C4924", "SNOMEDCT:723551003", "medgen:363064", "icd11.foundation:1366758649"], "information_content": 83.6}
{"id": "HP:0010551", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paraplegia/paraparesis", "equivalent_identifiers": ["HP:0010551", "UMLS:C4023792"], "information_content": 67.7}
{"id": "HP:0410219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of mandible relative to maxilla", "equivalent_identifiers": ["HP:0410219", "UMLS:C4732857"], "information_content": 100.0}
{"id": "MONDO:0016619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive hypohidrotic ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0016619", "orphanet:248", "UMLS:C0406702", "MESH:D053360", "NCIT:C84580", "SNOMEDCT:27025001", "medgen:96067", "icd11.foundation:7083042"], "information_content": 92.8}
{"id": "MONDO:0000845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrous dysplasia", "equivalent_identifiers": ["MONDO:0000845", "DOID:0080031", "orphanet:249", "UMLS:C0016063", "UMLS:C0259779", "MESH:D005357", "MEDDRA:10016664", "NCIT:C34609", "SNOMEDCT:10623005", "SNOMEDCT:254145001", "SNOMEDCT:789439000", "medgen:120444", "icd11.foundation:1704766818", "HP:0010734"], "information_content": 86.3}
{"id": "HP:0009121", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal axial skeleton morphology", "equivalent_identifiers": ["HP:0009121", "UMLS:C4020785", "UMLS:C4024586"], "information_content": 49.3}
{"id": "HP:0031955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antalgic gait", "equivalent_identifiers": ["HP:0031955", "UMLS:C0231685", "UMLS:C0311395", "MEDDRA:10058726", "MEDDRA:10063359", "SNOMEDCT:16973004", "SNOMEDCT:67141003"], "information_content": 100.0}
{"id": "HP:0430000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal frontal bone morphology", "equivalent_identifiers": ["HP:0430000", "UMLS:C4021873", "UMLS:C4732877"], "information_content": 80.2}
{"id": "HP:0430022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the sphenoid sinus", "equivalent_identifiers": ["HP:0430022", "UMLS:C4073204"], "information_content": 95.4}
{"id": "MONDO:0006793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperpituitarism", "equivalent_identifiers": ["MONDO:0006793", "DOID:2444", "EFO:1000973", "UMLS:C0020506", "MESH:D006964", "MEDDRA:10002700", "MEDDRA:10020716", "MEDDRA:10020717", "SNOMEDCT:10649000", "medgen:43783", "HP:0010514"], "information_content": 79.0}
{"id": "HP:0030428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin Myxoma", "equivalent_identifiers": ["HP:0030428", "NCIT:C6578", "UMLS:C1275280", "UMLS:C1333178", "SNOMEDCT:404084002"], "information_content": 95.4}
{"id": "HP:0012206", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sperm motility", "equivalent_identifiers": ["HP:0012206", "UMLS:C0855512", "MEDDRA:10027989", "MEDDRA:10041487", "MEDDRA:10041504", "MEDDRA:10041505"], "information_content": 84.8}
{"id": "HP:0011617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary situs ambiguus", "equivalent_identifiers": ["HP:0011617", "UMLS:C4023269"], "information_content": 92.8}
{"id": "HP:0025177", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peribronchovascular interstitial thickening", "equivalent_identifiers": ["HP:0025177", "UMLS:C4476637"], "information_content": 100.0}
{"id": "HP:0032543", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lithoptysis", "equivalent_identifiers": ["HP:0032543", "UMLS:C5139415"], "information_content": 100.0}
{"id": "HP:0025576", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal inferior vena cava morphology", "equivalent_identifiers": ["HP:0025576", "UMLS:C4703394"], "information_content": 90.9}
{"id": "MONDO:0009299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46 XX gonadal dysgenesis", "equivalent_identifiers": ["MONDO:0009299", "DOID:14450", "OMIM.PS:233300", "orphanet:243", "UMLS:C0685837", "MESH:D023961", "NCIT:C120197", "SNOMEDCT:95198001", "medgen:146899", "icd11.foundation:1742528605"], "information_content": 83.6}
{"id": "HP:0008684", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia of the uterus", "equivalent_identifiers": ["HP:0008684", "UMLS:C4024640"], "information_content": 89.4}
{"id": "MONDO:0016445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial anetoderma", "equivalent_identifiers": ["MONDO:0016445", "orphanet:228277", "UMLS:C4518793", "SNOMEDCT:733467001", "medgen:1387956"], "information_content": 100.0}
{"id": "MONDO:0017582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary adenocarcinoma", "equivalent_identifiers": ["MONDO:0017582", "DOID:4916", "orphanet:300385", "UMLS:C0346300", "NCIT:C4536", "SNOMEDCT:128665000", "SNOMEDCT:254955001", "medgen:91096", "HP:0011763"], "information_content": 85.5}
{"id": "HP:0011759", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pituitary gonadotropic cell adenoma", "equivalent_identifiers": ["HP:0011759", "UMLS:C4021122"], "information_content": 100.0}
{"id": "HP:0011762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pituitary thyrotropic cell adenoma", "equivalent_identifiers": ["HP:0011762", "UMLS:C4021121"], "information_content": 100.0}
{"id": "HP:0012363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased sialylation of O-linked protein glycosylation", "equivalent_identifiers": ["HP:0012363", "UMLS:C4022928"], "information_content": 100.0}
{"id": "MONDO:0015665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scleromyxedema", "equivalent_identifiers": ["MONDO:0015665", "orphanet:167635", "UMLS:C0263390", "MESH:D053718", "MEDDRA:10081264", "MEDDRA:10081265", "NCIT:C85061", "SNOMEDCT:402468007", "medgen:120476"], "information_content": 100.0}
{"id": "HP:0025512", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin-colored papule", "equivalent_identifiers": ["HP:0025512", "UMLS:C4476819"], "information_content": 100.0}
{"id": "HP:0030178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of central nervous system electrophysiology", "equivalent_identifiers": ["HP:0030178", "UMLS:C4022597"], "information_content": 68.0}
{"id": "MONDO:0001389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital coronary artery anomaly", "equivalent_identifiers": ["MONDO:0001389", "DOID:11843", "UMLS:C0158623", "MEDDRA:10010425", "MEDDRA:10011072", "MEDDRA:10061060", "SNOMEDCT:28574005", "medgen:510602", "ICD9:746.85", "HP:0006704"], "information_content": 75.3}
{"id": "MONDO:0018168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary non-essential cutis verticis gyrata", "equivalent_identifiers": ["MONDO:0018168", "orphanet:357225", "UMLS:C4755295", "SNOMEDCT:778044004", "medgen:1653253", "icd11.foundation:129937701"], "information_content": 100.0}
{"id": "HP:0003287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of mitochondrial metabolism", "equivalent_identifiers": ["HP:0003287", "UMLS:C4021734"], "information_content": 77.8}
{"id": "MONDO:0016529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double urethra", "equivalent_identifiers": ["MONDO:0016529", "orphanet:237", "UMLS:C0266348", "SNOMEDCT:69015003", "medgen:75609", "icd11.foundation:2069509755"], "information_content": 100.0}
{"id": "MONDO:0016526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 9p", "equivalent_identifiers": ["MONDO:0016526", "orphanet:236", "orphanet:262767", "UMLS:C0265428", "MESH:C538026", "SNOMEDCT:77527000", "medgen:120539", "icd11.foundation:1126301219"], "information_content": 100.0}
{"id": "HP:0003368", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal femoral head morphology", "equivalent_identifiers": ["HP:0003368", "UMLS:C4025620"], "information_content": 78.5}
{"id": "HP:0004242", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad carpal bones", "equivalent_identifiers": ["HP:0004242", "UMLS:C3554618"], "information_content": 95.4}
{"id": "MONDO:0016439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "elastoderma", "equivalent_identifiers": ["MONDO:0016439", "orphanet:228240", "UMLS:C0406555", "SNOMEDCT:238832003", "medgen:590504", "icd11.foundation:1880397739"], "information_content": 100.0}
{"id": "MONDO:0019978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Robinow syndrome", "equivalent_identifiers": ["MONDO:0019978", "DOID:0060254", "OMIM.PS:268310", "orphanet:97360", "UMLS:C0265205", "MESH:C562492", "MEDDRA:10084325", "NCIT:C85048", "medgen:78535", "icd11.foundation:1010745722", "ICD10:Q87.19"], "information_content": 87.2}
{"id": "HP:0030264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Webbed penis", "equivalent_identifiers": ["HP:0030264", "UMLS:C0431670", "MEDDRA:10067290", "SNOMEDCT:253852007"], "information_content": 100.0}
{"id": "HP:0006291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marked delay in eruption of permanent teeth", "equivalent_identifiers": ["HP:0006291", "UMLS:C1863009"], "information_content": 100.0}
{"id": "MONDO:0016208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "solitary rectal ulcer syndrome", "equivalent_identifiers": ["MONDO:0016208", "orphanet:209964", "UMLS:C4274343", "MEDDRA:10083165", "SNOMEDCT:716685003", "medgen:906337", "icd11.foundation:1677843970"], "information_content": 100.0}
{"id": "HP:0025086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bloody mucoid diarrhea", "equivalent_identifiers": ["HP:0025086", "UMLS:C4476583"], "information_content": 100.0}
{"id": "HP:0012425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stercoral ulcer", "equivalent_identifiers": ["HP:0012425", "NCIT:C78244", "UMLS:C0267491", "UMLS:C0333302", "MEDDRA:10009983", "MEDDRA:10010006", "MEDDRA:10022682", "MEDDRA:10023714", "MEDDRA:10023799", "MEDDRA:10023805", "MEDDRA:10045293", "MEDDRA:10045316", "SNOMEDCT:235766003", "SNOMEDCT:38084005", "SNOMEDCT:46040000"], "information_content": 100.0}
{"id": "MONDO:0016782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal 14q32.2 hypomethylation syndrome", "equivalent_identifiers": ["MONDO:0016782", "orphanet:254531", "UMLS:C5680721", "medgen:1842839"], "information_content": 100.0}
{"id": "HP:0000599", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the frontal hairline", "equivalent_identifiers": ["HP:0000599", "UMLS:C4025839"], "information_content": 88.2}
{"id": "MONDO:0016783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal 14q32.2 hypermethylation syndrome", "equivalent_identifiers": ["MONDO:0016783", "orphanet:254534", "UMLS:C5680720", "medgen:1843365"], "information_content": 100.0}
{"id": "MONDO:0044635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome", "equivalent_identifiers": ["MONDO:0044635", "orphanet:494444", "UMLS:C5567465", "SNOMEDCT:1172604004", "medgen:1798888"], "information_content": 100.0}
{"id": "HP:0030513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Difficulty adjusting from light to dark", "equivalent_identifiers": ["HP:0030513", "UMLS:C4072995"], "information_content": 100.0}
{"id": "HP:0030225", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Accumulation of muscle fiber desmin", "equivalent_identifiers": ["HP:0030225", "UMLS:C4021043"], "information_content": 100.0}
{"id": "MONDO:0019977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parkinsonism with dementia of Guadeloupe", "equivalent_identifiers": ["MONDO:0019977", "orphanet:97355", "UMLS:C4275027", "SNOMEDCT:715737004", "medgen:899794", "icd11.foundation:773801248"], "information_content": 100.0}
{"id": "HP:0010549", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weakness due to upper motor neuron dysfunction", "equivalent_identifiers": ["HP:0010549", "UMLS:C4021255"], "information_content": 66.9}
{"id": "MONDO:0016039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile digital fibromatosis", "equivalent_identifiers": ["MONDO:0016039", "orphanet:199267", "EFO:1000301", "UMLS:C1318562", "NCIT:C3456", "SNOMEDCT:1290969006", "SNOMEDCT:399903008", "medgen:232929", "HP:0025197"], "information_content": 100.0}
{"id": "MONDO:0016989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fuchs heterochromic iridocyclitis", "equivalent_identifiers": ["MONDO:0016989", "DOID:9375", "orphanet:263479", "UMLS:C0016782", "MEDDRA:10017406", "SNOMEDCT:11226001", "medgen:507742", "ICD10:H20.81", "ICD9:364.21"], "information_content": 100.0}
{"id": "HP:0025341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Corneal keratic precipitates", "equivalent_identifiers": ["HP:0025341", "UMLS:C2109272"], "information_content": 100.0}
{"id": "HP:0031701", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior chamber inflammatory cells", "equivalent_identifiers": ["HP:0031701", "UMLS:C4703489"], "information_content": 100.0}
{"id": "HP:0034820", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Koeppe nodules", "equivalent_identifiers": ["HP:0034820", "UMLS:C0424840", "MEDDRA:10023482", "SNOMEDCT:414541004", "SNOMEDCT:95705001"], "information_content": 100.0}
{"id": "HP:0034821", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bussaca nodules", "equivalent_identifiers": ["HP:0034821", "UMLS:C5826682"], "information_content": 100.0}
{"id": "HP:0030534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal best corrected visual acuity test", "equivalent_identifiers": ["HP:0030534", "UMLS:C4073008"], "information_content": 81.7}
{"id": "HP:0030554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Best corrected visual acuity 0.1 LogMAR", "equivalent_identifiers": ["HP:0030554", "UMLS:C4073027"], "information_content": 100.0}
{"id": "MONDO:0019975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pellagra", "equivalent_identifiers": ["MONDO:0019975", "DOID:8457", "orphanet:97352", "EFO:0008570", "UMLS:C0030783", "UMLS:C4317126", "MESH:D010383", "MEDDRA:10029400", "MEDDRA:10034231", "MEDDRA:10080738", "SNOMEDCT:418186002", "SNOMEDCT:418279001", "medgen:45364", "icd11.foundation:1108993080", "ICD10:E52", "ICD9:265.2", "HP:0100497"], "information_content": 95.4}
{"id": "MONDO:0017376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reiter Syndrome", "equivalent_identifiers": ["MONDO:0017376", "DOID:6196", "orphanet:29207", "EFO:0007460", "UMLS:C0035012", "UMLS:C0085435", "UMLS:C0152085", "MESH:D016918", "MEDDRA:10003267", "MEDDRA:10016669", "MEDDRA:10037994", "MEDDRA:10038292", "MEDDRA:10038293", "MEDDRA:10038294", "MEDDRA:10038295", "MEDDRA:10057231", "NCIT:C128332", "NCIT:C34975", "SNOMEDCT:129133005", "SNOMEDCT:201736002", "SNOMEDCT:239783001", "SNOMEDCT:67224007", "medgen:39047", "ICD10:M02.10", "ICD10:M02.3", "ICD9:099.3", "ICD9:711.30"], "information_content": 100.0}
{"id": "MONDO:0005297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethritis", "equivalent_identifiers": ["MONDO:0005297", "DOID:1343", "EFO:0003878", "UMLS:C0041976", "UMLS:C0311389", "UMLS:C1112709", "MESH:D014526", "MEDDRA:10029545", "MEDDRA:10046480", "MEDDRA:10046487", "MEDDRA:10046488", "MEDDRA:10046492", "MEDDRA:10057747", "MEDDRA:10073194", "NCIT:C26904", "NCIT:C27079", "SNOMEDCT:31822004", "SNOMEDCT:84619001", "medgen:52934", "ICD10:N34.2", "ICD9:597.80", "HP:0500006"], "information_content": 87.2}
{"id": "MONDO:0006672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "balanitis", "equivalent_identifiers": ["MONDO:0006672", "DOID:13033", "EFO:1000833", "UMLS:C0004690", "MESH:D001446", "MEDDRA:10004073", "MEDDRA:10004076", "MEDDRA:10034338", "NCIT:C26705", "SNOMEDCT:371163003", "SNOMEDCT:44882003", "medgen:14020", "ICD10:N48.1", "HP:0034438"], "information_content": 89.4}
{"id": "MONDO:0016780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal 14q32.2 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016780", "orphanet:254525", "UMLS:C5679639", "medgen:1842589"], "information_content": 100.0}
{"id": "MONDO:0016781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal 14q32.2 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016781", "orphanet:254528", "UMLS:C5679640", "medgen:1842712"], "information_content": 100.0}
{"id": "MONDO:0017831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mild Canavan disease", "equivalent_identifiers": ["MONDO:0017831", "orphanet:314918", "UMLS:C4017127", "medgen:865564"], "information_content": 100.0}
{"id": "HP:0040214", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating insulin concentration", "equivalent_identifiers": ["HP:0040214", "UMLS:C4073160"], "information_content": 77.1}
{"id": "MONDO:0015745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-polymicrogyria-corpus callosum agenesis syndrome", "equivalent_identifiers": ["MONDO:0015745", "orphanet:171703", "UMLS:C4750772", "SNOMEDCT:773305003", "medgen:1653942"], "information_content": 100.0}
{"id": "MONDO:0016207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phacoanaphylactic uveitis", "equivalent_identifiers": ["MONDO:0016207", "orphanet:209959", "UMLS:C1444621", "SNOMEDCT:410494003", "medgen:731803"], "information_content": 100.0}
{"id": "HP:0500081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudophakia", "equivalent_identifiers": ["HP:0500081", "UMLS:C0684343", "MEDDRA:10048867", "SNOMEDCT:95217000", "MESH:D019591"], "information_content": 100.0}
{"id": "HP:0025561", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior chamber cells grade 1+", "equivalent_identifiers": ["HP:0025561", "UMLS:C4703384"], "information_content": 100.0}
{"id": "HP:0030485", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal amplitude of pattern electroretinogram", "equivalent_identifiers": ["HP:0030485", "UMLS:C4072975"], "information_content": 100.0}
{"id": "HP:0030486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal timing of pattern electroretinogram", "equivalent_identifiers": ["HP:0030486", "UMLS:C4072976"], "information_content": 100.0}
{"id": "HP:0031618", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior chamber flare grade 1+", "equivalent_identifiers": ["HP:0031618", "UMLS:C4703443"], "information_content": 100.0}
{"id": "MONDO:0017830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe Canavan disease", "equivalent_identifiers": ["MONDO:0017830", "orphanet:314911", "UMLS:C5575558", "medgen:1826002"], "information_content": 100.0}
{"id": "MONDO:0001945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postencephalitic Parkinson disease", "equivalent_identifiers": ["MONDO:0001945", "DOID:14332", "orphanet:97349", "EFO:1001402", "UMLS:C0030568", "MESH:D010301", "MEDDRA:10034013", "NCIT:C34898", "SNOMEDCT:19972008", "medgen:10591", "ICD10:G21.3"], "information_content": 100.0}
{"id": "HP:0025456", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal CSF protein concentration", "equivalent_identifiers": ["HP:0025456", "UMLS:C4476789"], "information_content": 78.5}
{"id": "HP:0030188", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tremor by anatomical site", "equivalent_identifiers": ["HP:0030188", "UMLS:C4022593"], "information_content": 86.3}
{"id": "MONDO:0016206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic uveal effusion syndrome", "equivalent_identifiers": ["MONDO:0016206", "orphanet:209956", "UMLS:C4755300", "SNOMEDCT:778049009", "medgen:1669541", "icd11.foundation:1481963661"], "information_content": 100.0}
{"id": "HP:0004328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal anterior eye segment morphology", "equivalent_identifiers": ["HP:0004328", "UMLS:C4025355"], "information_content": 61.0}
{"id": "HP:0025339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superficial episcleral hyperemia", "equivalent_identifiers": ["HP:0025339", "UMLS:C4476712"], "information_content": 100.0}
{"id": "orphanet:211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial cylindromatosis", "equivalent_identifiers": ["orphanet:211"]}
{"id": "MONDO:0016239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystinosis", "equivalent_identifiers": ["MONDO:0016239", "DOID:1064", "orphanet:213", "UMLS:C4316899", "MESH:D003554", "MEDDRA:10011777", "NCIT:C2976", "SNOMEDCT:190681003", "medgen:1384792", "icd11.foundation:733715856"], "information_content": 89.4}
{"id": "HP:0012093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of endocrine pancreas physiology", "equivalent_identifiers": ["HP:0012093", "UMLS:C4023047"], "information_content": 74.7}
{"id": "MONDO:0019973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent placoid maculopathy", "equivalent_identifiers": ["MONDO:0019973", "orphanet:97341", "UMLS:C4304823", "SNOMEDCT:719297006", "medgen:930492", "icd11.foundation:1143591468"], "information_content": 100.0}
{"id": "HP:0010822", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scintillating scotoma", "equivalent_identifiers": ["HP:0010822", "UMLS:C0235068", "MEDDRA:10017063", "MEDDRA:10039677", "MEDDRA:10039735", "MEDDRA:10043186", "SNOMEDCT:2228002"], "information_content": 100.0}
{"id": "MONDO:0004684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plantar fibromatosis", "equivalent_identifiers": ["MONDO:0004684", "DOID:8936", "orphanet:199251", "EFO:1000481", "UMLS:C0158360", "MESH:C537000", "MESH:D000071380", "MEDDRA:10035154", "MEDDRA:10071740", "MEDDRA:10087847", "NCIT:C4680", "SNOMEDCT:13370002", "medgen:56385", "ICD10:M72.2", "ICD9:728.71"], "information_content": 100.0}
{"id": "MONDO:0016779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect", "equivalent_identifiers": ["MONDO:0016779", "DOID:0111712", "orphanet:254519", "UMLS:C5779872", "SNOMEDCT:770907002", "medgen:1830421"], "information_content": 90.9}
{"id": "MONDO:0016778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iatrogenic botulism", "equivalent_identifiers": ["MONDO:0016778", "orphanet:254509", "UMLS:C4288922", "NCIT:C128345", "SNOMEDCT:1156829005", "medgen:926454", "icd11.foundation:230654666"], "information_content": 100.0}
{"id": "MONDO:0018825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PYCR2-related microcephaly-progressive leukoencephalopathy", "equivalent_identifiers": ["MONDO:0018825", "orphanet:481152"], "information_content": 100.0}
{"id": "MONDO:0019969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panner disease", "equivalent_identifiers": ["MONDO:0019969", "orphanet:97336", "UMLS:C4759831", "MEDDRA:10081732", "SNOMEDCT:268025003", "medgen:1673235"], "information_content": 100.0}
{"id": "HP:0009810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of upper limb joint", "equivalent_identifiers": ["HP:0009810", "UMLS:C4021387"], "information_content": 62.7}
{"id": "HP:0030835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elbow pain", "equivalent_identifiers": ["HP:0030835", "UMLS:C0239266", "MEDDRA:10033424", "SNOMEDCT:74323005"], "information_content": 89.4}
{"id": "HP:0003945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular articular surfaces of the elbow joints", "equivalent_identifiers": ["HP:0003945", "UMLS:C4025489"], "information_content": 100.0}
{"id": "HP:0011324", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple suture craniosynostosis", "equivalent_identifiers": ["HP:0011324", "UMLS:C4021161"], "information_content": 95.4}
{"id": "MONDO:0004241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osgood-Schlatter disease", "equivalent_identifiers": ["MONDO:0004241", "DOID:7489", "orphanet:97335", "UMLS:C0029376", "UMLS:C2316563", "MEDDRA:10031130", "MEDDRA:10031238", "NCIT:C34874", "SNOMEDCT:430506003", "SNOMEDCT:72047008", "medgen:10489", "ICD10:M92.52", "HP:0010890"], "information_content": 100.0}
{"id": "MONDO:0016079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sporadic Creutzfeldt-Jakob disease", "equivalent_identifiers": ["MONDO:0016079", "orphanet:204", "UMLS:C1852467", "MESH:C565143", "SNOMEDCT:713060000", "medgen:377682", "icd11.foundation:1553463690"], "information_content": 100.0}
{"id": "MONDO:0015304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arachnoiditis", "equivalent_identifiers": ["MONDO:0015304", "DOID:12156", "orphanet:137817", "UMLS:C0003708", "UMLS:C0270617", "MESH:D001100", "MEDDRA:10001285", "MEDDRA:10003073", "MEDDRA:10003074", "NCIT:C37913", "SNOMEDCT:13980006", "SNOMEDCT:8217007", "medgen:8175", "icd11.foundation:414817254", "ICD10:G03"], "information_content": 95.4}
{"id": "MONDO:0019972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dural sinus malformation", "equivalent_identifiers": ["MONDO:0019972", "orphanet:97339", "UMLS:C3839148", "SNOMEDCT:703193000", "medgen:824993", "icd11.foundation:454640405"], "information_content": 100.0}
{"id": "HP:3000043", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal facial vein morphology", "equivalent_identifiers": ["HP:3000043", "UMLS:C4073251"], "information_content": 100.0}
{"id": "MONDO:0009044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crigler-Najjar syndrome", "equivalent_identifiers": ["MONDO:0009044", "DOID:3803", "orphanet:205", "UMLS:C5551003", "MESH:D003414", "MEDDRA:10011386", "NCIT:C84656", "SNOMEDCT:28259009", "medgen:1789261", "icd11.foundation:291439191"], "information_content": 92.8}
{"id": "MONDO:0019970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sinding-Larsen-Johansson disease", "equivalent_identifiers": ["MONDO:0019970", "orphanet:97337", "UMLS:C1504517", "MEDDRA:10063585", "medgen:1672493", "icd11.foundation:1733785551"], "information_content": 100.0}
{"id": "HP:6000915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysorthography", "equivalent_identifiers": ["HP:6000915", "UMLS:C0349326", "SNOMEDCT:268738002"], "information_content": 100.0}
{"id": "MONDO:0016063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden disease", "equivalent_identifiers": ["MONDO:0016063", "DOID:0050657", "DOID:6457", "OMIM.PS:158350", "orphanet:201", "UMLS:C0018553", "UMLS:C0265326", "MESH:D006223", "MEDDRA:10051906", "MEDDRA:10051915", "MEDDRA:10051916", "MEDDRA:10080314", "NCIT:C3076", "NCIT:C3939", "SNOMEDCT:234138005", "SNOMEDCT:58037000", "medgen:5420", "ICD10:Q87.89"], "information_content": 85.5}
{"id": "MONDO:0016035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nelson syndrome", "equivalent_identifiers": ["MONDO:0016035", "DOID:4968", "OMIM:125550", "orphanet:199244", "UMLS:C0027577", "UMLS:C1852159", "MESH:C531754", "MESH:D009347", "MEDDRA:10028913", "MEDDRA:10036327", "NCIT:C84917", "SNOMEDCT:43019009", "medgen:342174", "icd11.foundation:1945677910", "ICD10:E24.1"], "information_content": 100.0}
{"id": "HP:0011744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Secondary hypercortisolism", "equivalent_identifiers": ["HP:0011744", "UMLS:C4020741", "UMLS:C4023207"], "information_content": 100.0}
{"id": "HP:0030521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bitemporal hemianopia", "equivalent_identifiers": ["HP:0030521", "UMLS:C0221184", "MEDDRA:10019453", "SNOMEDCT:61917005"], "information_content": 100.0}
{"id": "HP:0030591", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal kinetic perimetry test", "equivalent_identifiers": ["HP:0030591", "UMLS:C4073063"], "information_content": 92.8}
{"id": "MONDO:0019967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kienbock disease", "equivalent_identifiers": ["MONDO:0019967", "orphanet:97332", "UMLS:C0022682", "UMLS:C1456737", "UMLS:C4759857", "UMLS:C4759858", "MEDDRA:10064242", "SNOMEDCT:360466009", "SNOMEDCT:367356000", "SNOMEDCT:787484007", "SNOMEDCT:84062004", "medgen:44028", "HP:0010889"], "information_content": 100.0}
{"id": "HP:0030794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating C-peptide concentration", "equivalent_identifiers": ["HP:0030794", "UMLS:C4280765"], "information_content": 92.8}
{"id": "MONDO:0005979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracic outlet syndrome", "equivalent_identifiers": ["MONDO:0005979", "DOID:3103", "orphanet:97330", "EFO:0007507", "UMLS:C0039984", "MESH:D013901", "MEDDRA:10048627", "NCIT:C85188", "SNOMEDCT:128210009", "medgen:21158", "icd11.foundation:909280105", "ICD10:G54.0"], "information_content": 90.9}
{"id": "MONDO:0016988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism due to HNF4A deficiency", "equivalent_identifiers": ["MONDO:0016988", "orphanet:263455", "UMLS:C4274078", "SNOMEDCT:717048002", "medgen:894506"], "information_content": 100.0}
{"id": "HP:0004359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating fatty-acid concentration", "equivalent_identifiers": ["HP:0004359", "UMLS:C4020830", "UMLS:C4021656"], "information_content": 69.7}
{"id": "HP:0030968", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulmonary vein morphology", "equivalent_identifiers": ["HP:0030968", "UMLS:C4476883"], "information_content": 82.6}
{"id": "MONDO:0015796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute lung injury", "equivalent_identifiers": ["MONDO:0015796", "orphanet:178320", "EFO:0004610", "UMLS:C0242488", "MESH:D055371", "MEDDRA:10069351", "NCIT:C155766", "SNOMEDCT:315345002"], "information_content": 100.0}
{"id": "HP:0032094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating surfactant protein level", "equivalent_identifiers": ["HP:0032094", "UMLS:C5139126"], "information_content": 100.0}
{"id": "MONDO:0016777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inhalational botulism", "equivalent_identifiers": ["MONDO:0016777", "orphanet:254504", "UMLS:C1443900", "SNOMEDCT:409562009", "medgen:731169", "icd11.foundation:1881625139"], "information_content": 100.0}
{"id": "MONDO:0005288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal polyp", "equivalent_identifiers": ["MONDO:0005288", "EFO:0003855", "UMLS:C0021846", "MESH:D007417", "MEDDRA:10048616", "SNOMEDCT:254588001", "medgen:9526", "HP:0005266"], "information_content": 81.3}
{"id": "MONDO:0019012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpenter syndrome", "equivalent_identifiers": ["MONDO:0019012", "DOID:0060234", "OMIM.PS:201000", "orphanet:65759", "UMLS:C1275078", "MESH:C563187", "MEDDRA:10081310", "NCIT:C98873", "SNOMEDCT:403767009", "medgen:226897", "icd11.foundation:2132713612"], "information_content": 90.9}
{"id": "MONDO:0015388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyrrhinia", "equivalent_identifiers": ["MONDO:0015388", "orphanet:141091", "UMLS:C4274730", "SNOMEDCT:716279002", "medgen:894825", "icd11.foundation:142812177"], "information_content": 100.0}
{"id": "MONDO:0015389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supernumerary nostril", "equivalent_identifiers": ["MONDO:0015389", "orphanet:141096", "UMLS:C4021372", "SNOMEDCT:719163006", "medgen:867014", "icd11.foundation:306735786", "HP:0009934"], "information_content": 100.0}
{"id": "HP:0010939", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal bone morphology", "equivalent_identifiers": ["HP:0010939", "UMLS:C4023637"], "information_content": 82.1}
{"id": "HP:0010951", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal third ventricle morphology", "equivalent_identifiers": ["HP:0010951", "UMLS:C4023629"], "information_content": 83.1}
{"id": "MONDO:0015800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerosis-developmental delay-craniosynostosis syndrome", "equivalent_identifiers": ["MONDO:0015800", "orphanet:178377", "UMLS:C4302818", "SNOMEDCT:722117000", "medgen:928487"], "information_content": 100.0}
{"id": "MONDO:0015390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proboscis lateralis", "equivalent_identifiers": ["MONDO:0015390", "orphanet:141099", "UMLS:C4274985", "SNOMEDCT:715828006", "medgen:900031", "icd11.foundation:646148612"], "information_content": 100.0}
{"id": "HP:0032039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the ocular adnexa", "equivalent_identifiers": ["HP:0032039", "UMLS:C4732818"], "information_content": 59.9}
{"id": "HP:0430023", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the maxillary sinus", "equivalent_identifiers": ["HP:0430023", "UMLS:C4073205"], "information_content": 92.8}
{"id": "HP:0040296", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal location of the eyebrow", "equivalent_identifiers": ["HP:0040296", "UMLS:C4477036"], "information_content": 100.0}
{"id": "HP:3000030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of bony orbit of skull", "equivalent_identifiers": ["HP:3000030", "UMLS:C4073239"], "information_content": 74.9}
{"id": "MONDO:0007671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibronectin glomerulopathy", "equivalent_identifiers": ["MONDO:0007671", "OMIM.PS:137950", "orphanet:84090", "UMLS:C3888104", "MESH:C536826", "MESH:C562900", "SNOMEDCT:236535001", "SNOMEDCT:818952002", "medgen:854773", "icd11.foundation:1877494378"], "information_content": 92.8}
{"id": "HP:0001966", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal glomerular mesangium morphology", "equivalent_identifiers": ["HP:0001966", "UMLS:C4025733"], "information_content": 77.6}
{"id": "HP:3000040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of ethmoid sinus", "equivalent_identifiers": ["HP:3000040", "UMLS:C4073248"], "information_content": 92.8}
{"id": "HP:0031282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malalignment of the great toenail", "equivalent_identifiers": ["HP:0031282", "UMLS:C4531228"], "information_content": 100.0}
{"id": "HP:0031423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small cerebellar cortex", "equivalent_identifiers": ["HP:0031423", "UMLS:C4531131"], "information_content": 100.0}
{"id": "HP:0011409", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal placental membrane morphology", "equivalent_identifiers": ["HP:0011409", "UMLS:C4023369"], "information_content": 84.8}
{"id": "HP:0010347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the 2nd toe", "equivalent_identifiers": ["HP:0010347", "UMLS:C4023890"], "information_content": 83.6}
{"id": "MONDO:0019332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "punctate palmoplantar keratoderma type 1", "equivalent_identifiers": ["MONDO:0019332", "orphanet:79501", "UMLS:C1835662", "MESH:C536161", "SNOMEDCT:717184007", "medgen:372099"], "information_content": 92.8}
{"id": "HP:0011124", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal epidermal morphology", "equivalent_identifiers": ["HP:0011124", "UMLS:C4023526"], "information_content": 74.1}
{"id": "MONDO:0019060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone neoplasm", "equivalent_identifiers": ["MONDO:0019060", "orphanet:68411", "EFO:0003820", "UMLS:C0005967", "UMLS:C2732838", "UMLS:C4020771", "MEDDRA:10005995", "MEDDRA:10005996", "MEDDRA:10028984", "NCIT:C9343", "SNOMEDCT:115239009", "SNOMEDCT:126537000", "SNOMEDCT:442868003", "medgen:488993", "HP:0010622"], "information_content": 60.5}
{"id": "MONDO:0019867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 8", "equivalent_identifiers": ["MONDO:0019867", "orphanet:96061", "UMLS:C1096527", "MESH:C537940", "MEDDRA:10053916", "SNOMEDCT:717335009", "medgen:797340"], "information_content": 100.0}
{"id": "MONDO:0016985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nevus of Ito", "equivalent_identifiers": ["MONDO:0016985", "orphanet:263432", "EFO:1000395", "UMLS:CN202288", "NCIT:C7582"], "information_content": 100.0}
{"id": "HP:0025534", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ocular melanocytosis", "equivalent_identifiers": ["HP:0025534", "NCIT:C174414", "UMLS:C0025210", "SNOMEDCT:45795007"], "information_content": 95.4}
{"id": "MONDO:0018175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined deficiency of factor V and factor VIII", "equivalent_identifiers": ["MONDO:0018175", "orphanet:35909", "UMLS:C1856883", "SNOMEDCT:715559004", "medgen:384006", "icd11.foundation:184219764"], "information_content": 90.9}
{"id": "MONDO:0019395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hinman syndrome", "equivalent_identifiers": ["MONDO:0019395", "orphanet:84085", "UMLS:C1997362", "MEDDRA:10089298", "MEDDRA:10089304", "NCIT:C123206", "SNOMEDCT:429233001", "medgen:744421"], "information_content": 100.0}
{"id": "MONDO:0019394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Boichis syndrome", "equivalent_identifiers": ["MONDO:0019394", "orphanet:84081", "UMLS:C4274018", "SNOMEDCT:717187000", "medgen:902988"], "information_content": 95.4}
{"id": "HP:0001436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the foot musculature", "equivalent_identifiers": ["HP:0001436", "UMLS:C4025785"], "information_content": 89.4}
{"id": "HP:0030311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower extremity joint dislocation", "equivalent_identifiers": ["HP:0030311", "UMLS:C4022516"], "information_content": 83.6}
{"id": "MONDO:0016204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic copper-associated cirrhosis", "equivalent_identifiers": ["MONDO:0016204", "orphanet:209919", "UMLS:C4274853", "SNOMEDCT:715864007", "medgen:907284", "icd11.foundation:1692504835"], "information_content": 100.0}
{"id": "MONDO:0005526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetanus", "equivalent_identifiers": ["MONDO:0005526", "DOID:11338", "orphanet:3299", "EFO:0005593", "UMLS:C0039614", "MESH:D013742", "MEDDRA:10009663", "MEDDRA:10043376", "NCIT:C85185", "SNOMEDCT:276202003", "SNOMEDCT:76902006", "medgen:21489", "icd11.foundation:1793762788", "ICD10:A35", "ICD9:037"], "information_content": 95.4}
{"id": "HP:0040212", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Risus sardonicus", "equivalent_identifiers": ["HP:0040212", "UMLS:C0343494", "MEDDRA:10039198", "SNOMEDCT:64314006"], "information_content": 100.0}
{"id": "HP:0005363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Humoral immunodeficiency", "equivalent_identifiers": ["HP:0005363", "UMLS:C1399819", "UMLS:C4025206"], "information_content": 100.0}
{"id": "HP:0025145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rigors", "equivalent_identifiers": ["HP:0025145", "NCIT:C111658", "UMLS:C0424790", "MEDDRA:10039176", "MEDDRA:10039177", "MEDDRA:10076336", "MEDDRA:10076459", "SNOMEDCT:38880002"], "information_content": 100.0}
{"id": "MONDO:0015387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasolacrimal duct cyst", "equivalent_identifiers": ["MONDO:0015387", "orphanet:141083", "UMLS:C5575612", "SNOMEDCT:1230269002", "medgen:1810477"], "information_content": 100.0}
{"id": "HP:3000066", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lacrimal sac morphology", "equivalent_identifiers": ["HP:3000066", "UMLS:C4073273"], "information_content": 88.2}
{"id": "HP:0004885", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic respiratory distress", "equivalent_identifiers": ["HP:0004885", "UMLS:C1844945"], "information_content": 100.0}
{"id": "MONDO:0016042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset isolated ACTH deficiency", "equivalent_identifiers": ["MONDO:0016042", "orphanet:199299", "UMLS:C4751433", "SNOMEDCT:773989002", "medgen:1651973", "icd11.foundation:1651831896"], "information_content": 100.0}
{"id": "HP:0011735", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenocorticotropin deficient adrenal insufficiency", "equivalent_identifiers": ["HP:0011735", "UMLS:C4023211"], "information_content": 100.0}
{"id": "MONDO:0016535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypohidrotic ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0016535", "DOID:14793", "orphanet:238468", "UMLS:C5848103", "NCIT:C84562", "medgen:1853123", "icd11.foundation:673167184"], "information_content": 84.2}
{"id": "HP:6001086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular RR interval", "equivalent_identifiers": ["HP:6001086", "UMLS:C5970405"], "information_content": 100.0}
{"id": "HP:6001087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular P-P interval", "equivalent_identifiers": ["HP:6001087", "UMLS:C5970406"], "information_content": 100.0}
{"id": "HP:0034376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrioventricular valve regurgitation", "equivalent_identifiers": ["HP:0034376", "UMLS:C5706196"], "information_content": 88.2}
{"id": "HP:6000264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal tachycardia", "equivalent_identifiers": ["HP:6000264", "NCIT:C92796", "UMLS:C0410918", "MEDDRA:10016868", "MEDDRA:10043074", "MEDDRA:10054725", "MEDDRA:10055190", "SNOMEDCT:240298005"], "information_content": 95.4}
{"id": "MONDO:0021209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart neoplasm", "equivalent_identifiers": ["MONDO:0021209", "EFO:1001339", "UMLS:C0018809", "MEDDRA:10007590", "NCIT:C3081", "SNOMEDCT:387842002", "medgen:9172", "HP:0100544"], "information_content": 70.4}
{"id": "HP:0007374", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy/Degeneration involving the caudate nucleus", "equivalent_identifiers": ["HP:0007374", "UMLS:C4024895"], "information_content": 95.4}
{"id": "MONDO:0005401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Colon Neoplasm", "equivalent_identifiers": ["MONDO:0005401", "EFO:0004288", "UMLS:C0009375", "MESH:D003110", "MEDDRA:10009973", "MEDDRA:10009974", "MEDDRA:10009999", "MEDDRA:10061045", "NCIT:C2953", "SNOMEDCT:126838000", "medgen:3165", "HP:0100273"], "information_content": 65.7}
{"id": "MONDO:0017990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia", "equivalent_identifiers": ["MONDO:0017990", "DOID:0060674", "OMIM.PS:604772", "orphanet:3286", "UMLS:C5574922", "MESH:C536334", "MESH:D000098850", "NCIT:C99936", "SNOMEDCT:419671004", "medgen:1803763", "icd11.foundation:976309888", "ICD10:I47.2"], "information_content": 86.3}
{"id": "HP:0020141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blood pressure substantially higher in legs than arms", "equivalent_identifiers": ["HP:0020141", "UMLS:C5209237"], "information_content": 100.0}
{"id": "HP:0032554", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent pulse", "equivalent_identifiers": ["HP:0032554", "UMLS:C0277899", "MEDDRA:10037469", "MEDDRA:10037472", "MEDDRA:10037473", "MEDDRA:10037495", "MEDDRA:10037497", "MEDDRA:10045507", "SNOMEDCT:54518005"], "information_content": 95.4}
{"id": "MONDO:0022535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carotidynia", "equivalent_identifiers": ["MONDO:0022535", "UMLS:C0238902", "MEDDRA:10051550", "MEDDRA:10051561", "SNOMEDCT:21615003", "SNOMEDCT:230482003", "medgen:536866", "HP:6000944"], "information_content": 100.0}
{"id": "HP:6000945", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetric blood pressure between arms", "equivalent_identifiers": ["HP:6000945", "UMLS:C0522049", "SNOMEDCT:102584008"], "information_content": 100.0}
{"id": "MONDO:0016205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IRVAN syndrome", "equivalent_identifiers": ["MONDO:0016205", "orphanet:209943", "UMLS:C3665812", "MEDDRA:10073929", "MEDDRA:10073939", "SNOMEDCT:783090002", "medgen:1435227", "icd11.foundation:498393228"], "information_content": 100.0}
{"id": "MONDO:0009952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radioulnar synostosis-developmental delay-hypotonia syndrome", "equivalent_identifiers": ["MONDO:0009952", "OMIM:266255", "orphanet:3270", "UMLS:C1849470", "UMLS:C2931776", "MESH:C538217", "MESH:C564856", "SNOMEDCT:721883006", "medgen:341460"], "information_content": 100.0}
{"id": "MONDO:0017580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "11p15.4 microduplication syndrome", "equivalent_identifiers": ["MONDO:0017580", "orphanet:300305", "UMLS:C4749508", "SNOMEDCT:770794008", "medgen:1660019"], "information_content": 100.0}
{"id": "MONDO:0016981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome", "equivalent_identifiers": ["MONDO:0016981", "orphanet:263410", "UMLS:C5190692", "SNOMEDCT:782886007", "medgen:1675231"], "information_content": 100.0}
{"id": "MONDO:0009105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichohepatoenteric syndrome", "equivalent_identifiers": ["MONDO:0009105", "DOID:0111414", "OMIM.PS:222470", "orphanet:84064", "UMLS:C1857276", "MESH:C565627", "SNOMEDCT:703406006", "medgen:347405", "icd11.foundation:1470910753"], "information_content": 92.8}
{"id": "HP:0025156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dependency on intravenous nutrition", "equivalent_identifiers": ["HP:0025156", "UMLS:C4476622"], "information_content": 100.0}
{"id": "HP:0010647", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal elasticity of skin", "equivalent_identifiers": ["HP:0010647", "UMLS:C4023760"], "information_content": 79.6}
{"id": "MONDO:0018071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 18", "equivalent_identifiers": ["MONDO:0018071", "DOID:1085", "orphanet:3380", "UMLS:C4317091", "MESH:C580500", "MESH:D000073842", "MEDDRA:10053884", "SNOMEDCT:51500006", "medgen:1384417", "icd11.foundation:1505179968", "ICD9:758.2"], "information_content": 92.8}
{"id": "HP:0100810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pointed helix", "equivalent_identifiers": ["HP:0100810", "UMLS:C4020951"], "information_content": 100.0}
{"id": "HP:0011660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of one pulmonary artery from ascending aorta", "equivalent_identifiers": ["HP:0011660", "UMLS:C4021134"], "information_content": 92.8}
{"id": "HP:0000849", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenocortical abnormality", "equivalent_identifiers": ["HP:0000849", "UMLS:C4025820"], "information_content": 78.8}
{"id": "HP:0025575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal superior vena cava morphology", "equivalent_identifiers": ["HP:0025575", "UMLS:C4703393"], "information_content": 84.8}
{"id": "HP:0031635", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anomalous origin of the left common carotid artery from the brachiocephalic artery", "equivalent_identifiers": ["HP:0031635", "UMLS:C3532021", "SNOMEDCT:460899002"], "information_content": 100.0}
{"id": "MONDO:0019383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute disseminated encephalomyelitis", "equivalent_identifiers": ["MONDO:0019383", "DOID:639", "orphanet:83597", "EFO:0007130", "UMLS:C0014059", "MESH:D004673", "MEDDRA:10000709", "NCIT:C34578", "SNOMEDCT:83942000", "medgen:4033", "icd11.foundation:1390433308"], "information_content": 90.9}
{"id": "HP:0031696", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disseminated viral infection", "equivalent_identifiers": ["HP:0031696", "UMLS:C4703485"], "information_content": 95.4}
{"id": "HP:0032492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-myelin oligodendrocyte glycoprotein antibody positivity", "equivalent_identifiers": ["HP:0032492", "UMLS:C5139382"], "information_content": 100.0}
{"id": "HP:0030857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eye movement-induced pain", "equivalent_identifiers": ["HP:0030857", "UMLS:C4280742"], "information_content": 100.0}
{"id": "HP:0020089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Post-vaccination rubella", "equivalent_identifiers": ["HP:0020089", "UMLS:C5139646"], "information_content": 100.0}
{"id": "HP:0031695", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe parainfluenza infection", "equivalent_identifiers": ["HP:0031695", "UMLS:C4703484"], "information_content": 100.0}
{"id": "MONDO:0009046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fraser syndrome", "equivalent_identifiers": ["MONDO:0009046", "DOID:0090001", "OMIM.PS:219000", "orphanet:2052", "UMLS:C0265233", "MESH:D058497", "MEDDRA:10080219", "NCIT:C118436", "NCIT:C98908", "SNOMEDCT:204102004", "medgen:82692", "icd11.foundation:968262849"], "information_content": 90.9}
{"id": "HP:0005597", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital alopecia totalis", "equivalent_identifiers": ["HP:0005597", "UMLS:C4025175"], "information_content": 100.0}
{"id": "HP:0031538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dermoepidermal junction morphology", "equivalent_identifiers": ["HP:0031538", "UMLS:C4531058"], "information_content": 86.3}
{"id": "MONDO:0016085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cole-Carpenter syndrome", "equivalent_identifiers": ["MONDO:0016085", "DOID:0060438", "OMIM.PS:112240", "orphanet:2050", "UMLS:C1862178", "MESH:C535963", "NCIT:C130985", "SNOMEDCT:389199001", "medgen:350614", "icd11.foundation:1458793358"], "information_content": 92.8}
{"id": "MONDO:0023201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fryns Smeets Thiry syndrome", "equivalent_identifiers": ["MONDO:0023201", "orphanet:2058", "UMLS:C5680810", "SNOMEDCT:1208344000", "medgen:1803270"], "information_content": 100.0}
{"id": "HP:0030272", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal erythrocyte enzyme concentration or activity", "equivalent_identifiers": ["HP:0030272", "UMLS:C4022545"], "information_content": 79.6}
{"id": "MONDO:0005459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "human African trypanosomiasis", "equivalent_identifiers": ["MONDO:0005459", "DOID:10112", "orphanet:3385", "EFO:0005225", "UMLS:C0041228", "MESH:D014353", "MEDDRA:10001461", "MEDDRA:10001462", "MEDDRA:10041016", "NCIT:C84541", "SNOMEDCT:27031003", "medgen:21714", "ICD10:B56", "ICD9:086.5", "KEGG.DISEASE:05143"], "information_content": 92.8}
{"id": "HP:0000847", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of renin-angiotensin system", "equivalent_identifiers": ["HP:0000847", "UMLS:C4021793"], "information_content": 76.5}
{"id": "HP:0032367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal growth hormone level", "equivalent_identifiers": ["HP:0032367", "UMLS:C5139300"], "information_content": 87.2}
{"id": "MONDO:0001444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chagas disease", "equivalent_identifiers": ["MONDO:0001444", "DOID:12140", "orphanet:3386", "EFO:0008559", "UMLS:C0007932", "UMLS:C0041234", "MESH:D014355", "MEDDRA:10001935", "MEDDRA:10008384", "MEDDRA:10044706", "NCIT:C84629", "SNOMEDCT:77506005", "medgen:11935", "icd11.foundation:1365585570", "ICD10:B57.0", "ICD10:B57.1", "ICD10:B57.3", "ICD10:B57.4", "ICD10:B57.5", "ICD9:086.2", "KEGG.DISEASE:05142"], "information_content": 95.4}
{"id": "HP:0012700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal large intestine physiology", "equivalent_identifiers": ["HP:0012700", "UMLS:C4022766"], "information_content": 87.2}
{"id": "HP:0011883", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal platelet granules", "equivalent_identifiers": ["HP:0011883", "UMLS:C4023146"], "information_content": 82.6}
{"id": "MONDO:0013150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parkinsonism-dystonia, infantile", "equivalent_identifiers": ["MONDO:0013150", "OMIM.PS:613135", "orphanet:238455", "UMLS:C2751067", "MESH:C567730", "medgen:413468"], "information_content": 90.9}
{"id": "HP:0004354", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating carboxylic acid concentration", "equivalent_identifiers": ["HP:0004354", "UMLS:C4025344", "UMLS:C5139039"], "information_content": 60.3}
{"id": "MONDO:0018891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial tumoral calcinosis", "equivalent_identifiers": ["MONDO:0018891", "orphanet:53715", "EFO:0009385", "UMLS:C0263628", "MEDDRA:10059364", "MEDDRA:10059367", "SNOMEDCT:61778004", "medgen:452340"], "information_content": 88.2}
{"id": "HP:0100249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcification of muscles", "equivalent_identifiers": ["HP:0100249", "UMLS:C2960760", "MEDDRA:10049797", "SNOMEDCT:446993003"], "information_content": 100.0}
{"id": "HP:0031670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Continuous heart murmur", "equivalent_identifiers": ["HP:0031670", "UMLS:C0232266", "SNOMEDCT:59685007"], "information_content": 100.0}
{"id": "MONDO:0016080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bronchobiliary fistula", "equivalent_identifiers": ["MONDO:0016080", "orphanet:2040", "UMLS:C4304716", "SNOMEDCT:719452004", "medgen:930385", "icd11.foundation:420429663"], "information_content": 100.0}
{"id": "MONDO:0015553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystrophic epidermolysis bullosa, nails only", "equivalent_identifiers": ["MONDO:0015553", "orphanet:158676", "UMLS:C4302547", "SNOMEDCT:722436002", "medgen:928216"], "information_content": 100.0}
{"id": "HP:0040036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Onychogryphosis of fingernail", "equivalent_identifiers": ["HP:0040036", "UMLS:C4022477"], "information_content": 100.0}
{"id": "MONDO:0018892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wyburn-Mason syndrome", "equivalent_identifiers": ["MONDO:0018892", "orphanet:53719", "UMLS:C0265321", "MESH:C536752", "MEDDRA:10048661", "SNOMEDCT:6729006", "medgen:120534"], "information_content": 100.0}
{"id": "HP:0011494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized opacification of the cornea", "equivalent_identifiers": ["HP:0011494", "UMLS:C4021147"], "information_content": 95.4}
{"id": "MONDO:0015552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acral dystrophic epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0015552", "orphanet:158673", "UMLS:C4518087", "SNOMEDCT:733638006", "medgen:1387925"], "information_content": 100.0}
{"id": "MONDO:0023171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foix chavany Marie syndrome", "equivalent_identifiers": ["MONDO:0023171", "orphanet:2048", "UMLS:C2931412", "MESH:C537069", "MEDDRA:10083275", "MEDDRA:10083277", "SNOMEDCT:720956003", "medgen:419406"], "information_content": 100.0}
{"id": "MONDO:0020550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gestational choriocarcinoma", "equivalent_identifiers": ["MONDO:0020550", "DOID:2025", "orphanet:99926", "UMLS:C0349557", "NCIT:C4646", "SNOMEDCT:417057000", "SNOMEDCT:417570003", "medgen:138102", "icd11.foundation:2136066651"], "information_content": 89.4}
{"id": "MONDO:0002872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trophoblastic neoplasm", "equivalent_identifiers": ["MONDO:0002872", "DOID:4085", "UMLS:C0041182", "MESH:D014328", "NCIT:C3422", "SNOMEDCT:115234004", "medgen:21708", "HP:0031502"], "information_content": 73.1}
{"id": "MONDO:0016083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FLOTCH syndrome", "equivalent_identifiers": ["MONDO:0016083", "orphanet:2045", "UMLS:C2931411", "MESH:C537065", "SNOMEDCT:774065001", "medgen:419074"], "information_content": 100.0}
{"id": "HP:0100878", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged uterus", "equivalent_identifiers": ["HP:0100878", "NCIT:C92773", "UMLS:C0151994", "MEDDRA:10014852", "MEDDRA:10046782", "MEDDRA:10046838", "SNOMEDCT:198319004"], "information_content": 88.2}
{"id": "MONDO:0016394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sporadic infantile bilateral striatal necrosis", "equivalent_identifiers": ["MONDO:0016394", "orphanet:225147", "UMLS:C4087175", "MEDDRA:10077451", "SNOMEDCT:1010642001", "medgen:1672494", "icd11.foundation:1174703901"], "information_content": 100.0}
{"id": "HP:0040013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased mitochondrial number", "equivalent_identifiers": ["HP:0040013", "UMLS:C4022493"], "information_content": 95.4}
{"id": "MONDO:0020552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placental site trophoblastic tumor", "equivalent_identifiers": ["MONDO:0020552", "DOID:3596", "orphanet:99928", "EFO:1001111", "UMLS:C0206666", "MESH:D018245", "NCIT:C3757", "SNOMEDCT:237252008", "SNOMEDCT:75320001", "medgen:104914"], "information_content": 100.0}
{"id": "HP:0003879", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Humeral pseudarthrosis", "equivalent_identifiers": ["HP:0003879", "UMLS:C4025532"], "information_content": 100.0}
{"id": "HP:0012538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gluten intolerance", "equivalent_identifiers": ["HP:0012538", "UMLS:C0850024", "UMLS:C4317045", "MEDDRA:10018460", "MEDDRA:10076493", "SNOMEDCT:1269424006", "SNOMEDCT:441831003"], "information_content": 100.0}
{"id": "MONDO:0017147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic pulmonary arterial hypertension", "equivalent_identifiers": ["MONDO:0017147", "orphanet:275766", "UMLS:C3203102", "MEDDRA:10065151", "NCIT:C168400", "NCIT:C97119", "SNOMEDCT:697898008", "medgen:468368", "icd11.foundation:265520344"], "information_content": 95.4}
{"id": "HP:3000042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal jugular vein morphology", "equivalent_identifiers": ["HP:3000042", "UMLS:C4073250"], "information_content": 92.8}
{"id": "MONDO:0031322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triopia", "equivalent_identifiers": ["MONDO:0031322", "orphanet:3374", "UMLS:C5816687", "SNOMEDCT:1285322008", "medgen:1836871"], "information_content": 100.0}
{"id": "MONDO:0800449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lysosomal acid lipase deficiency", "equivalent_identifiers": ["MONDO:0800449", "DOID:0080217", "OMIM.PS:278000", "orphanet:275761", "EFO:0700022", "UMLS:C5574740", "MESH:C531854", "MEDDRA:10077267", "SNOMEDCT:715923003", "medgen:1807768", "icd11.foundation:381622932", "ICD10:E75.5"], "information_content": 92.8}
{"id": "HP:0012598", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine potassium concentration", "equivalent_identifiers": ["HP:0012598", "UMLS:C4022829"], "information_content": 87.2}
{"id": "MONDO:0018066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy X", "equivalent_identifiers": ["MONDO:0018066", "orphanet:3375", "UMLS:C0221033", "MESH:C535318", "MEDDRA:10076910", "NCIT:C129718", "SNOMEDCT:35111009", "medgen:113140", "icd11.foundation:423644907"], "information_content": 100.0}
{"id": "MONDO:0018067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triploidy", "equivalent_identifiers": ["MONDO:0018067", "orphanet:3376", "UMLS:C0333693", "MESH:D057885", "MEDDRA:10089702", "NCIT:C85204", "SNOMEDCT:14847005", "SNOMEDCT:66651005", "medgen:90711", "icd11.foundation:1900317965"], "information_content": 100.0}
{"id": "MONDO:0018205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 1q", "equivalent_identifiers": ["MONDO:0018205", "orphanet:36367", "UMLS:C4273897", "SNOMEDCT:717633007", "medgen:900126"], "information_content": 100.0}
{"id": "MONDO:0020549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "invasive hydatidiform mole", "equivalent_identifiers": ["MONDO:0020549", "orphanet:99925", "UMLS:C0008493", "MESH:D002820", "MEDDRA:10020483", "MEDDRA:10025598", "NCIT:C6985", "SNOMEDCT:18799007", "SNOMEDCT:416669000", "medgen:3055"], "information_content": 95.4}
{"id": "MONDO:0018068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 13", "equivalent_identifiers": ["MONDO:0018068", "DOID:11665", "orphanet:3378", "UMLS:C0152095", "UMLS:C4319808", "MESH:C536305", "MESH:D000073839", "MEDDRA:10034115", "MEDDRA:10044686", "NCIT:C101223", "SNOMEDCT:21111006", "medgen:56261", "icd11.foundation:1435958084", "ICD10:Q91.7", "ICD9:758.1"], "information_content": 92.8}
{"id": "HP:0100627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Displacement of the urethral meatus", "equivalent_identifiers": ["HP:0100627", "UMLS:C4020961"], "information_content": 84.8}
{"id": "MONDO:0018069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal trisomy 17q", "equivalent_identifiers": ["MONDO:0018069", "orphanet:3379", "UMLS:C4707663", "SNOMEDCT:766051001", "medgen:1635674"], "information_content": 100.0}
{"id": "MONDO:0017411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal inflammatory skin and bowel disease", "equivalent_identifiers": ["MONDO:0017411", "OMIM.PS:614328", "orphanet:294023", "UMLS:C4751120", "SNOMEDCT:773662009", "medgen:1648296"], "information_content": 92.8}
{"id": "MONDO:0020547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic graft versus host disease", "equivalent_identifiers": ["MONDO:0020547", "orphanet:99921", "UMLS:C0867389", "MEDDRA:10008907", "MEDDRA:10066261", "MEDDRA:10068907", "NCIT:C4981", "SNOMEDCT:402356004", "medgen:167851", "icd11.foundation:621183043"], "information_content": 86.3}
{"id": "HP:0025270", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal esophagus physiology", "equivalent_identifiers": ["HP:0025270", "UMLS:C4476684"], "information_content": 82.1}
{"id": "MONDO:0008598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichodysplasia-xeroderma syndrome", "equivalent_identifiers": ["MONDO:0008598", "OMIM:190360", "orphanet:3361", "UMLS:C1860822", "MESH:C566032", "medgen:349898"], "information_content": 100.0}
{"id": "MONDO:0018768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome", "equivalent_identifiers": ["MONDO:0018768", "DOID:0090061", "OMIM.PS:120100", "orphanet:47045", "UMLS:C0343068", "MEDDRA:10064570", "MEDDRA:10064575", "MEDDRA:10071094", "NCIT:C119053", "medgen:137986", "icd11.foundation:1932140025", "ICD10:L50.2"], "information_content": 89.4}
{"id": "MONDO:0006614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subcorneal pustular dermatosis", "equivalent_identifiers": ["MONDO:0006614", "DOID:8508", "orphanet:48377", "EFO:1000771", "UMLS:C0600336", "MEDDRA:10042342", "MEDDRA:10059409", "SNOMEDCT:25147002", "medgen:108687", "icd11.foundation:1952122675", "ICD10:L13.1", "ICD9:694.1"], "information_content": 100.0}
{"id": "orphanet:2038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary arteriovenous malformation", "equivalent_identifiers": ["orphanet:2038"]}
{"id": "HP:0004952", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary arteriovenous fistulas", "equivalent_identifiers": ["HP:0004952", "NCIT:C99029", "UMLS:C0155675", "MEDDRA:10003227", "MEDDRA:10037308", "MEDDRA:10037332", "SNOMEDCT:111289009", "MESH:C562404"], "information_content": 100.0}
{"id": "MONDO:0018108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic disseminated cytomegalovirus infection", "equivalent_identifiers": ["MONDO:0018108", "orphanet:35062", "UMLS:C5680152", "medgen:1826159"], "information_content": 100.0}
{"id": "HP:0430087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-cytomegalovirus antibody positivity", "equivalent_identifiers": ["HP:0430087", "UMLS:C5936842"], "information_content": 100.0}
{"id": "MONDO:0005761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "filarial elephantiasis", "equivalent_identifiers": ["MONDO:0005761", "DOID:12211", "orphanet:2035", "EFO:0007272", "UMLS:C0013884", "UMLS:C0155217", "MESH:D004605", "MEDDRA:10014473", "MEDDRA:10016675", "MEDDRA:10025229", "NCIT:C128360", "SNOMEDCT:14100003", "SNOMEDCT:240820001", "medgen:8583", "icd11.foundation:247221550"], "information_content": 100.0}
{"id": "HP:0012224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Circulating immune complexes", "equivalent_identifiers": ["HP:0012224", "UMLS:C3887628"], "information_content": 100.0}
{"id": "HP:0032260", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opportunistic bacterial infection", "equivalent_identifiers": ["HP:0032260", "UMLS:C5139227"], "information_content": 85.5}
{"id": "HP:0100673", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal hydrocele", "equivalent_identifiers": ["HP:0100673"], "information_content": 100.0}
{"id": "HP:0033367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orthodeoxia", "equivalent_identifiers": ["HP:0033367", "UMLS:C0522073", "SNOMEDCT:102633001"], "information_content": 100.0}
{"id": "MONDO:0018065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated trigonocephaly", "equivalent_identifiers": ["MONDO:0018065", "OMIM.PS:190440", "orphanet:3366"], "information_content": 92.8}
{"id": "HP:0002679", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sella turcica morphology", "equivalent_identifiers": ["HP:0002679", "UMLS:C4021754", "UMLS:C4072839"], "information_content": 84.2}
{"id": "HP:0030082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal drinking behavior", "equivalent_identifiers": ["HP:0030082", "UMLS:C4022657"], "information_content": 87.2}
{"id": "MONDO:0019860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hemiagenesis", "equivalent_identifiers": ["MONDO:0019860", "orphanet:95719", "UMLS:C4023190", "MEDDRA:10077609", "SNOMEDCT:715734006", "medgen:868785", "icd11.foundation:872920513", "HP:0011780"], "information_content": 100.0}
{"id": "MONDO:0016203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency", "equivalent_identifiers": ["MONDO:0016203", "orphanet:209902", "UMLS:C4751204", "SNOMEDCT:773726000", "medgen:1653798"], "information_content": 100.0}
{"id": "HP:0008372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating vitamin A concentration", "equivalent_identifiers": ["HP:0008372", "UMLS:C4024686", "UMLS:C5872907"], "information_content": 90.9}
{"id": "MONDO:0000980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic atherosclerosis", "equivalent_identifiers": ["MONDO:0000980", "DOID:10230", "UMLS:C0155733", "MEDDRA:10002892", "MEDDRA:10003605", "NCIT:C197845", "SNOMEDCT:81817003", "medgen:510061", "ICD10:I70.0", "ICD9:440.0", "HP:0012397"], "information_content": 95.4}
{"id": "HP:0100514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating vitamin E concentration", "equivalent_identifiers": ["HP:0100514", "UMLS:C4022034", "UMLS:C5826840"], "information_content": 92.8}
{"id": "HP:0000216", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad secondary alveolar ridge", "equivalent_identifiers": ["HP:0000216", "UMLS:C1839276"], "information_content": 100.0}
{"id": "HP:0031905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased total hemolytic complement activity", "equivalent_identifiers": ["HP:0031905", "UMLS:C4703607"], "information_content": 100.0}
{"id": "HP:0034265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mastalgia", "equivalent_identifiers": ["HP:0034265", "EFO:1001366", "NCIT:C78223", "UMLS:C0024902", "MEDDRA:10000426", "MEDDRA:10006298", "MEDDRA:10026876", "MEDDRA:10026892", "MEDDRA:10033385", "MEDDRA:10033504", "MEDDRA:10041354", "MEDDRA:10041370", "SNOMEDCT:53430007", "MESH:D059373"], "information_content": 100.0}
{"id": "MONDO:0009711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital fiber-type disproportion myopathy", "equivalent_identifiers": ["MONDO:0009711", "DOID:0080102", "orphanet:2020", "UMLS:C0546264", "NCIT:C120046", "SNOMEDCT:240084007", "medgen:108177"], "information_content": 95.4}
{"id": "HP:0004347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weakness of muscles of respiration", "equivalent_identifiers": ["HP:0004347", "UMLS:C4025347"], "information_content": 88.2}
{"id": "MONDO:0016071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile hyaline fibromatosis", "equivalent_identifiers": ["MONDO:0016071", "orphanet:2028", "UMLS:C2745948", "MESH:D057770", "NCIT:C98297", "SNOMEDCT:1290968003", "SNOMEDCT:238861002", "medgen:411197", "icd11.foundation:1890146024"], "information_content": 100.0}
{"id": "MONDO:0009228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingival fibromatosis-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0009228", "OMIM:228560", "orphanet:2025", "UMLS:C1856761", "MESH:C565567", "medgen:346437"], "information_content": 100.0}
{"id": "MONDO:0002142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "undifferentiated pleomorphic sarcoma", "equivalent_identifiers": ["MONDO:0002142", "DOID:1907", "orphanet:2023", "EFO:1001972", "UMLS:C0279546", "UMLS:C0334463", "MESH:D051677", "MEDDRA:10016665", "MEDDRA:10025552", "MEDDRA:10025553", "MEDDRA:10025556", "MEDDRA:10025562", "MEDDRA:10087873", "NCIT:C114541", "NCIT:C4247", "SNOMEDCT:34360000", "SNOMEDCT:443439001", "medgen:87248"], "information_content": 78.8}
{"id": "MONDO:0016068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrochondrogenesis", "equivalent_identifiers": ["MONDO:0016068", "DOID:0060465", "OMIM.PS:228520", "orphanet:2021", "UMLS:C0265282", "MESH:C562524", "SNOMEDCT:17144009", "medgen:82700", "icd11.foundation:1412541453"], "information_content": 92.8}
{"id": "HP:0030312", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Obliteration of the calvarial diploe", "equivalent_identifiers": ["HP:0030312", "UMLS:C1860855"], "information_content": 100.0}
{"id": "HP:0030758", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periapical tooth abscess", "equivalent_identifiers": ["HP:0030758", "UMLS:C4280782"], "information_content": 100.0}
{"id": "MONDO:0018061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichodermodysplasia-dental alterations syndrome", "equivalent_identifiers": ["MONDO:0018061", "orphanet:3353", "UMLS:C2931485", "MESH:C537402", "SNOMEDCT:763620003", "medgen:419092"], "information_content": 100.0}
{"id": "HP:0100887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of globe size", "equivalent_identifiers": ["HP:0100887", "UMLS:C4021945"], "information_content": 84.8}
{"id": "MONDO:0018214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus", "equivalent_identifiers": ["MONDO:0018214", "DOID:0060170", "OMIM.PS:604233", "orphanet:36387", "UMLS:C3502809", "MESH:C565808", "NCIT:C122811", "SNOMEDCT:699688008", "medgen:503203", "ICD10:G40.3"], "information_content": 84.2}
{"id": "MONDO:0018213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 1", "equivalent_identifiers": ["MONDO:0018213", "DOID:0070162", "orphanet:36386", "UMLS:C0020071", "NCIT:C170433", "SNOMEDCT:230553002", "SNOMEDCT:397734008", "medgen:5645", "icd11.foundation:1989773046"], "information_content": 87.2}
{"id": "HP:0100287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: slow motor conduction", "equivalent_identifiers": ["HP:0100287", "UMLS:C4022167"], "information_content": 100.0}
{"id": "HP:0031060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired ability to dress oneself", "equivalent_identifiers": ["HP:0031060", "UMLS:C4476940"], "information_content": 100.0}
{"id": "HP:0007550", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypohidrosis or hyperhidrosis", "equivalent_identifiers": ["HP:0007550", "UMLS:C4021831"], "information_content": 79.0}
{"id": "MONDO:0020567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apnea of prematurity", "equivalent_identifiers": ["MONDO:0020567", "orphanet:99981", "UMLS:C0475715", "NCIT:C98823", "SNOMEDCT:276544005", "medgen:473179", "icd11.foundation:894774581", "HP:0034236"], "information_content": 100.0}
{"id": "MONDO:0018876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mantle cell lymphoma", "equivalent_identifiers": ["MONDO:0018876", "DOID:0050746", "orphanet:52416", "EFO:1001469", "UMLS:C0334638", "UMLS:C4721414", "MESH:D020522", "MEDDRA:10026798", "MEDDRA:10026799", "MEDDRA:10026806", "MEDDRA:10061275", "NCIT:C4337", "NCIT:C4339", "SNOMEDCT:443487006", "SNOMEDCT:74654000", "medgen:1668377", "icd11.foundation:1804127841"], "information_content": 75.3}
{"id": "MONDO:0019429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked neurodegenerative syndrome, Hamel type", "equivalent_identifiers": ["MONDO:0019429", "orphanet:85336", "UMLS:C4305135", "SNOMEDCT:718847005", "medgen:930804"], "information_content": 100.0}
{"id": "MONDO:0018957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pudendal neuralgia", "equivalent_identifiers": ["MONDO:0018957", "orphanet:60039", "UMLS:C1997249", "MESH:D060545", "MEDDRA:10078517", "SNOMEDCT:427972000", "medgen:372681", "icd11.foundation:1492963618"], "information_content": 100.0}
{"id": "HP:0030155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scrotal pain", "equivalent_identifiers": ["HP:0030155", "NCIT:C78607", "UMLS:C0236078", "MEDDRA:10039757", "SNOMEDCT:20502007"], "information_content": 100.0}
{"id": "HP:0032150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal rectal pain", "equivalent_identifiers": ["HP:0032150", "UMLS:C5139160"], "information_content": 100.0}
{"id": "MONDO:0021667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuralgia", "equivalent_identifiers": ["MONDO:0021667", "EFO:0009430", "UMLS:C0027796", "UMLS:C0751373", "MESH:D009437", "MEDDRA:10029223", "MEDDRA:10029226", "NCIT:C79695", "SNOMEDCT:16269008", "medgen:18010", "HP:0033345"], "information_content": 82.1}
{"id": "HP:0034267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelvic pain", "equivalent_identifiers": ["HP:0034267", "NCIT:C40122", "UMLS:C0030794", "MEDDRA:10033479", "MEDDRA:10034263", "MEDDRA:10034264", "SNOMEDCT:30473006", "MESH:D017699"], "information_content": 78.0}
{"id": "HP:0034805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buttock pain", "equivalent_identifiers": ["HP:0034805", "NCIT:C78228", "UMLS:C0231710", "MEDDRA:10048677", "MEDDRA:10087421", "SNOMEDCT:279043006"], "information_content": 100.0}
{"id": "HP:0034806", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal foreign body sensation", "equivalent_identifiers": ["HP:0034806", "UMLS:C5826675"], "information_content": 100.0}
{"id": "HP:0007379", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neoplasm of the genitourinary tract", "equivalent_identifiers": ["HP:0007379", "EFO:0003863", "UMLS:C0042065", "UMLS:C4020809", "MEDDRA:10018192", "MEDDRA:10029101", "MEDDRA:10046701", "MEDDRA:10046702", "MEDDRA:10046703", "MEDDRA:10061183", "MESH:D014565"], "information_content": 69.0}
{"id": "HP:0010787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genital neoplasm", "equivalent_identifiers": ["HP:0010787", "UMLS:C0679347", "UMLS:C4020767"], "information_content": 71.9}
{"id": "MONDO:0002735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal canal adenocarcinoma", "equivalent_identifiers": ["MONDO:0002735", "DOID:3692", "orphanet:424016", "UMLS:C1332259", "NCIT:C7471", "SNOMEDCT:764845008", "medgen:233977", "icd11.foundation:168138050", "HP:0030439"], "information_content": 89.4}
{"id": "MONDO:0019430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-ataxia-apraxia syndrome", "equivalent_identifiers": ["MONDO:0019430", "orphanet:85338", "UMLS:C4305139", "SNOMEDCT:718845002", "medgen:930808"], "information_content": 100.0}
{"id": "MONDO:0019427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked neurodegenerative syndrome, Bertini type", "equivalent_identifiers": ["MONDO:0019427", "orphanet:85334", "UMLS:C4305133", "SNOMEDCT:718849008", "medgen:930802"], "information_content": 100.0}
{"id": "MONDO:0018955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recurrent respiratory papillomatosis", "equivalent_identifiers": ["MONDO:0018955", "orphanet:60032", "UMLS:C1168198", "MESH:C535297", "MEDDRA:10059314", "NCIT:C128637", "SNOMEDCT:472827002", "medgen:216998", "icd11.foundation:151039887"], "information_content": 95.4}
{"id": "MONDO:0019428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fried syndrome", "equivalent_identifiers": ["MONDO:0019428", "orphanet:85335", "UMLS:C4305134", "SNOMEDCT:718848000", "medgen:930803"], "information_content": 100.0}
{"id": "MONDO:0018956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic bronchiectasis", "equivalent_identifiers": ["MONDO:0018956", "orphanet:60033", "UMLS:C0339985", "SNOMEDCT:233629001", "medgen:573462"], "information_content": 90.9}
{"id": "HP:0030365", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vaginal birth after Caesarean", "equivalent_identifiers": ["HP:0030365", "UMLS:C0080301"], "information_content": 100.0}
{"id": "MONDO:0016065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate-short stature-vertebral anomalies syndrome", "equivalent_identifiers": ["MONDO:0016065", "orphanet:2015", "UMLS:C4304704", "SNOMEDCT:719466009", "medgen:930373"], "information_content": 100.0}
{"id": "HP:0001129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large central visual field defect", "equivalent_identifiers": ["HP:0001129", "UMLS:C4025800"], "information_content": 100.0}
{"id": "MONDO:0005580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0005580", "DOID:3748", "orphanet:99977", "EFO:0005922", "UMLS:C0279626", "MESH:C562729", "MESH:D000077277", "MEDDRA:10015382", "MEDDRA:10015431", "MEDDRA:10030170", "MEDDRA:10030186", "MEDDRA:10041824", "MEDDRA:10041825", "MEDDRA:10055476", "MEDDRA:10056065", "MEDDRA:10056104", "MEDDRA:10061534", "NCIT:C4024", "SNOMEDCT:276804009", "medgen:124635", "icd11.foundation:1417891145"], "information_content": 72.1}
{"id": "MONDO:0003345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klatskin Tumor", "equivalent_identifiers": ["MONDO:0003345", "DOID:4927", "DOID:5246", "orphanet:99978", "EFO:1001959", "UMLS:C0206702", "UMLS:C4045991", "MESH:D018285", "MEDDRA:10074874", "MEDDRA:10074877", "MEDDRA:10074878", "NCIT:C36077", "SNOMEDCT:253017000", "SNOMEDCT:865951006", "medgen:61664", "icd11.foundation:1571104786"], "information_content": 79.3}
{"id": "MONDO:0018058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheal agenesis", "equivalent_identifiers": ["MONDO:0018058", "orphanet:3346", "UMLS:C1261567", "MESH:C536975", "NCIT:C35376", "SNOMEDCT:1003555002", "SNOMEDCT:3987009", "medgen:266059"], "information_content": 100.0}
{"id": "MONDO:0009221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "femur-fibula-ulna complex", "equivalent_identifiers": ["MONDO:0009221", "OMIM:228200", "orphanet:2019", "UMLS:C1856790", "MESH:C537918", "MEDDRA:10068448", "SNOMEDCT:1230098009", "medgen:347305", "icd11.foundation:353892894"], "information_content": 100.0}
{"id": "HP:0010776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tracheobronchmegaly", "equivalent_identifiers": ["HP:0010776", "UMLS:C4023707"], "information_content": 100.0}
{"id": "MONDO:0005028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal adenocarcinoma", "equivalent_identifiers": ["MONDO:0005028", "DOID:4914", "orphanet:99976", "EFO:0000478", "UMLS:C0279628", "MESH:C562730", "MEDDRA:10001173", "MEDDRA:10030137", "MEDDRA:10030139", "MEDDRA:10055458", "MEDDRA:10056092", "NCIT:C4025", "SNOMEDCT:276803003", "medgen:124636", "icd11.foundation:829915640"], "information_content": 71.9}
{"id": "MONDO:0008587", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheobronchopathia osteochondroplastica", "equivalent_identifiers": ["MONDO:0008587", "OMIM:189961", "orphanet:3348", "UMLS:C0520538", "UMLS:C3887588", "MESH:C536977", "MEDDRA:10044319", "SNOMEDCT:37615000", "SNOMEDCT:54675009", "medgen:854438", "icd11.foundation:1797446244"], "information_content": 100.0}
{"id": "MONDO:0005103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "well-differentiated liposarcoma", "equivalent_identifiers": ["MONDO:0005103", "orphanet:99971", "EFO:0000736", "UMLS:C1370889", "NCIT:C4250", "SNOMEDCT:1290827008", "SNOMEDCT:28655007", "medgen:237164"], "information_content": 90.9}
{"id": "MONDO:0016848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile temporal arteritis", "equivalent_identifiers": ["MONDO:0016848", "orphanet:26137", "UMLS:C0751547", "SNOMEDCT:722020006", "medgen:155583", "icd11.foundation:135739104"], "information_content": 100.0}
{"id": "MONDO:0018877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis punctata albescens", "equivalent_identifiers": ["MONDO:0018877", "orphanet:52427", "UMLS:C1405854", "SNOMEDCT:715562001", "medgen:278050", "icd11.foundation:567796529"], "information_content": 100.0}
{"id": "MONDO:0016865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome due to a point mutation", "equivalent_identifiers": ["MONDO:0016865", "orphanet:261652", "UMLS:C5680724", "medgen:1826146"], "information_content": 100.0}
{"id": "HP:0011351", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate receptive language delay", "equivalent_identifiers": ["HP:0011351", "UMLS:C3532946", "SNOMEDCT:89381000119107"], "information_content": 100.0}
{"id": "HP:0033127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the musculoskeletal system", "equivalent_identifiers": ["HP:0033127", "UMLS:C3825027"], "information_content": 39.1}
{"id": "HP:0200005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal shape of the palpebral fissure", "equivalent_identifiers": ["HP:0200005", "UMLS:C4021905"], "information_content": 90.9}
{"id": "MONDO:0018878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiootic syndrome", "equivalent_identifiers": ["MONDO:0018878", "DOID:0060232", "OMIM.PS:602588", "orphanet:52429", "UMLS:C4273131", "MESH:C537104", "SNOMEDCT:764810000", "medgen:1636666", "ICD10:Q87.0"], "information_content": 90.9}
{"id": "MONDO:0019422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Stevenson type", "equivalent_identifiers": ["MONDO:0019422", "orphanet:85325", "UMLS:C4305077", "SNOMEDCT:718909001", "medgen:930746"], "information_content": 100.0}
{"id": "MONDO:0019423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Stoll type", "equivalent_identifiers": ["MONDO:0019423", "orphanet:85326", "UMLS:C4305075", "SNOMEDCT:718911005", "medgen:930744"], "information_content": 100.0}
{"id": "MONDO:0019424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-acromegaly-hyperactivity syndrome", "equivalent_identifiers": ["MONDO:0019424", "orphanet:85327", "UMLS:C4304407", "SNOMEDCT:719826004", "medgen:930076"], "information_content": 100.0}
{"id": "HP:0009745", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal arachnoid cyst", "equivalent_identifiers": ["HP:0009745", "NCIT:C4398", "UMLS:C0344484", "UMLS:C4021393", "SNOMEDCT:253163008"], "information_content": 100.0}
{"id": "MONDO:0100491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized pustular psoriasis", "equivalent_identifiers": ["MONDO:0100491", "orphanet:247353", "UMLS:C0343055", "MEDDRA:10090621", "MEDDRA:10090623", "NCIT:C202121", "SNOMEDCT:238612002", "medgen:473074"], "information_content": 95.4}
{"id": "MONDO:0019420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Pai type", "equivalent_identifiers": ["MONDO:0019420", "orphanet:85322", "UMLS:C4305026", "SNOMEDCT:719011002", "medgen:930695"], "information_content": 100.0}
{"id": "MONDO:0017994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency", "equivalent_identifiers": ["MONDO:0017994", "orphanet:329249", "UMLS:C5190989", "SNOMEDCT:783556000", "medgen:1674241"], "information_content": 100.0}
{"id": "MONDO:0019421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Seemanova type", "equivalent_identifiers": ["MONDO:0019421", "orphanet:85323", "UMLS:C4305088", "SNOMEDCT:718897009", "medgen:930757"], "information_content": 100.0}
{"id": "MONDO:0016059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft lip/palate-deafness-sacral lipoma syndrome", "equivalent_identifiers": ["MONDO:0016059", "orphanet:2003", "UMLS:C4274888", "SNOMEDCT:716007007", "medgen:905203"], "information_content": 100.0}
{"id": "MONDO:0011008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft lip/palate-intestinal malrotation-cardiopathy syndrome", "equivalent_identifiers": ["MONDO:0011008", "OMIM:601165", "orphanet:2001", "UMLS:C2931750", "MESH:C538160", "SNOMEDCT:719456001", "medgen:444135"], "information_content": 100.0}
{"id": "MONDO:0020561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myxoid/round cell liposarcoma", "equivalent_identifiers": ["MONDO:0020561", "orphanet:99967", "UMLS:C0545074", "medgen:107784"], "information_content": 90.9}
{"id": "MONDO:0020562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleomorphic liposarcoma", "equivalent_identifiers": ["MONDO:0020562", "DOID:5702", "orphanet:99969", "EFO:0003083", "UMLS:C0205825", "MEDDRA:10073138", "NCIT:C3705", "SNOMEDCT:112683004", "SNOMEDCT:404071006", "medgen:61457"], "information_content": 88.2}
{"id": "MONDO:0005060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liposarcoma", "equivalent_identifiers": ["MONDO:0005060", "DOID:3382", "orphanet:69078", "EFO:0000569", "UMLS:C0023827", "MESH:D008080", "MEDDRA:10024627", "MEDDRA:10024628", "MEDDRA:10024631", "NCIT:C3194", "SNOMEDCT:1162815008", "SNOMEDCT:254829001", "SNOMEDCT:49430005", "medgen:44177", "HP:0012034"], "information_content": 73.0}
{"id": "HP:0000371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute otitis media", "equivalent_identifiers": ["HP:0000371", "UMLS:C0271429", "MEDDRA:10033079", "MEDDRA:10033080", "SNOMEDCT:3110003"], "information_content": 100.0}
{"id": "HP:0011837", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial IgA deficiency", "equivalent_identifiers": ["HP:0011837", "UMLS:C4023167"], "information_content": 100.0}
{"id": "MONDO:0035521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis-ptosis-epicanthus inversus syndrome plus", "equivalent_identifiers": ["MONDO:0035521", "orphanet:572333", "UMLS:C5437588", "SNOMEDCT:890180006", "medgen:1761196"], "information_content": 100.0}
{"id": "HP:0011481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lacrimal duct morphology", "equivalent_identifiers": ["HP:0011481", "UMLS:C1858567"], "information_content": 85.5}
{"id": "MONDO:0001767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stenosis of lacrimal punctum", "equivalent_identifiers": ["MONDO:0001767", "DOID:13653", "UMLS:C0155244", "MEDDRA:10041987", "SNOMEDCT:74783009", "medgen:509869", "ICD10:H04.56", "ICD9:375.52", "HP:0025572"], "information_content": 100.0}
{"id": "HP:0032514", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Supernumerary lacrimal punctum", "equivalent_identifiers": ["HP:0032514", "UMLS:C0344510", "SNOMEDCT:253218002"], "information_content": 100.0}
{"id": "MONDO:0000507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "equivalent_identifiers": ["MONDO:0000507", "DOID:0050881", "OMIM.PS:167320", "orphanet:52430", "UMLS:C1833662", "SNOMEDCT:703544004", "medgen:322251", "icd11.foundation:1947548457"], "information_content": 89.4}
{"id": "HP:0012083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ubiquitin-positive cerebral inclusion bodies", "equivalent_identifiers": ["HP:0012083", "UMLS:C4023052"], "information_content": 100.0}
{"id": "MONDO:0020559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "O'Sullivan-McLeod syndrome", "equivalent_identifiers": ["MONDO:0020559", "orphanet:99965", "UMLS:C2721741", "MEDDRA:10069682", "SNOMEDCT:1299151005", "medgen:797656"], "information_content": 100.0}
{"id": "MONDO:0007600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary Fanconi syndrome", "equivalent_identifiers": ["MONDO:0007600", "orphanet:3337", "UMLS:C1857395", "MEDDRA:10011871", "MEDDRA:10052606", "NCIT:C123229", "medgen:341765"], "information_content": 90.9}
{"id": "HP:0032943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine pH", "equivalent_identifiers": ["HP:0032943", "UMLS:C0855949", "MEDDRA:10034792"], "information_content": 63.8}
{"id": "orphanet:53721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal arteriovenous metameric syndrome", "equivalent_identifiers": ["orphanet:53721"]}
{"id": "MONDO:0019418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0019418", "orphanet:85319", "UMLS:C4304917", "SNOMEDCT:719155005", "medgen:930586"], "information_content": 100.0}
{"id": "MONDO:0019416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "equivalent_identifiers": ["MONDO:0019416", "orphanet:85317", "UMLS:C4304919", "SNOMEDCT:719156006", "medgen:930588"], "information_content": 100.0}
{"id": "HP:0008497", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital craniofacial dysostosis", "equivalent_identifiers": ["HP:0008497", "UMLS:C4024667"], "information_content": 100.0}
{"id": "HP:0012480", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebral vein morphology", "equivalent_identifiers": ["HP:0012480", "UMLS:C4022888"], "information_content": 87.2}
{"id": "MONDO:0015743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic bilateral vestibulopathy", "equivalent_identifiers": ["MONDO:0015743", "orphanet:171684", "UMLS:C4545229", "SNOMEDCT:737580004", "medgen:1622940", "icd11.foundation:1394072237"], "information_content": 100.0}
{"id": "HP:6001104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vestibulo-spinal reflex", "equivalent_identifiers": ["HP:6001104", "UMLS:C5970421"], "information_content": 100.0}
{"id": "HP:5200273", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sadness", "equivalent_identifiers": ["HP:5200273"], "information_content": 100.0}
{"id": "HP:0009127", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the musculature of the limbs", "equivalent_identifiers": ["HP:0009127", "UMLS:C4024582"], "information_content": 64.4}
{"id": "MONDO:0018050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tibial aplasia-ectrodactyly syndrome", "equivalent_identifiers": ["MONDO:0018050", "orphanet:3329", "UMLS:C4551989", "SNOMEDCT:715531000", "medgen:1639878"], "information_content": 90.9}
{"id": "MONDO:0019419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome", "equivalent_identifiers": ["MONDO:0019419", "orphanet:85320", "UMLS:C4304406", "SNOMEDCT:719825000", "medgen:930075"], "information_content": 100.0}
{"id": "orphanet:3322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hoyeraal-Hreidarsson syndrome", "equivalent_identifiers": ["orphanet:3322"]}
{"id": "MONDO:0020773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrospinal fluid rhinorrhea", "equivalent_identifiers": ["MONDO:0020773", "UMLS:C0007815", "MESH:D002559", "MEDDRA:10008182", "MEDDRA:10062839", "NCIT:C84627", "SNOMEDCT:85638002", "medgen:3331", "HP:0030998"], "information_content": 100.0}
{"id": "MONDO:0018048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heparin-induced thrombocytopenia", "equivalent_identifiers": ["MONDO:0018048", "orphanet:3325", "UMLS:C0272285", "MEDDRA:10051601", "MEDDRA:10062506", "NCIT:C99111", "SNOMEDCT:73397007", "medgen:124423", "icd11.foundation:1143142333", "HP:0011874"], "information_content": 100.0}
{"id": "HP:0040231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal onset of bleeding", "equivalent_identifiers": ["HP:0040231", "UMLS:C4280713"], "information_content": 95.4}
{"id": "HP:0032649", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skewfoot", "equivalent_identifiers": ["HP:0032649", "UMLS:C5397666"], "information_content": 100.0}
{"id": "HP:0040145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dicarboxylic acidemia", "equivalent_identifiers": ["HP:0040145", "UMLS:C4022416"], "information_content": 90.9}
{"id": "HP:0031064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired continence", "equivalent_identifiers": ["HP:0031064", "UMLS:C4476943"], "information_content": 88.2}
{"id": "HP:0025178", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subpleural interstitial thickening", "equivalent_identifiers": ["HP:0025178", "UMLS:C4476638"], "information_content": 100.0}
{"id": "HP:0008703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gonadal calcification", "equivalent_identifiers": ["HP:0008703", "UMLS:C4024636"], "information_content": 100.0}
{"id": "MONDO:0008348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary nodular lymphoid hyperplasia", "equivalent_identifiers": ["MONDO:0008348", "OMIM:178610", "orphanet:60026", "UMLS:C1334969", "UMLS:C1867419", "MEDDRA:10077412", "NCIT:C35713", "SNOMEDCT:718097008", "medgen:401226"], "information_content": 100.0}
{"id": "MONDO:0018043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thomas syndrome", "equivalent_identifiers": ["MONDO:0018043", "orphanet:3316", "UMLS:C2931225", "MESH:C536514", "SNOMEDCT:716740009", "medgen:419362"], "information_content": 100.0}
{"id": "MONDO:0018954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome", "equivalent_identifiers": ["MONDO:0018954", "DOID:0050466", "OMIM.PS:609192", "orphanet:60030", "UMLS:C2697932", "MESH:D055947", "MEDDRA:10081284", "NCIT:C75006", "SNOMEDCT:446263001", "medgen:395827"], "information_content": 87.2}
{"id": "MONDO:0005029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "essential thrombocythemia", "equivalent_identifiers": ["MONDO:0005029", "DOID:2224", "orphanet:3318", "EFO:0000479", "UMLS:C0040028", "MESH:D013920", "MEDDRA:10015493", "MEDDRA:10015494", "MEDDRA:10015495", "MEDDRA:10053263", "MEDDRA:10086933", "MEDDRA:10086934", "NCIT:C3407", "SNOMEDCT:109994006", "SNOMEDCT:128844009", "medgen:11797", "ICD10:D47.3", "ICD9:238.71"], "information_content": 92.8}
{"id": "HP:0011875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal platelet morphology", "equivalent_identifiers": ["HP:0011875", "UMLS:C0855742", "MEDDRA:10035538", "MEDDRA:10035539"], "information_content": 69.8}
{"id": "HP:0031388", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megakaryocyte nucleus hyperlobulation", "equivalent_identifiers": ["HP:0031388", "UMLS:C4531159"], "information_content": 100.0}
{"id": "HP:0011902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hemoglobin", "equivalent_identifiers": ["HP:0011902", "UMLS:C0349705", "MEDDRA:10018879", "MEDDRA:10018880", "MEDDRA:10018891", "MEDDRA:10019482"], "information_content": 76.5}
{"id": "orphanet:250984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autosomal recessive Stickler syndrome", "equivalent_identifiers": ["orphanet:250984"]}
{"id": "orphanet:35093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-syndromic sagittal craniosynostosis", "equivalent_identifiers": ["orphanet:35093"]}
{"id": "MONDO:0020558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Charcot-Marie-Tooth disease type 2K", "equivalent_identifiers": ["MONDO:0020558", "orphanet:99944", "UMLS:C1842984", "MESH:C564325", "NCIT:C133886", "SNOMEDCT:719512003", "medgen:334294"], "information_content": 100.0}
{"id": "MONDO:0018030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetrasomy 9p", "equivalent_identifiers": ["MONDO:0018030", "orphanet:3310", "UMLS:C0795832", "MESH:C538027", "SNOMEDCT:715530004", "medgen:162876", "icd11.foundation:1426428869"], "information_content": 100.0}
{"id": "HP:0011646", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juxtaductal coarctation of the aorta", "equivalent_identifiers": ["HP:0011646", "UMLS:C4023250"], "information_content": 100.0}
{"id": "MONDO:0011012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bantu siderosis", "equivalent_identifiers": ["MONDO:0011012", "DOID:0111033", "OMIM:601195", "orphanet:139507", "UMLS:C0268063", "MESH:C537904", "MEDDRA:10083876", "MEDDRA:10083888", "SNOMEDCT:66576001", "medgen:75649", "icd11.foundation:869212237"], "information_content": 100.0}
{"id": "HP:0011772", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thyroid morphology", "equivalent_identifiers": ["HP:0011772", "UMLS:C4023195"], "information_content": 72.0}
{"id": "MONDO:0018034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thalidomide embryopathy", "equivalent_identifiers": ["MONDO:0018034", "orphanet:3312", "UMLS:C0432365", "MEDDRA:10071249", "MEDDRA:10075183", "MEDDRA:10075184", "NCIT:C99082", "SNOMEDCT:36193003", "medgen:98490", "icd11.foundation:299085643"], "information_content": 100.0}
{"id": "orphanet:35099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-syndromic bicoronal craniosynostosis", "equivalent_identifiers": ["orphanet:35099"]}
{"id": "MONDO:0018026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tetraploidy", "equivalent_identifiers": ["MONDO:0018026", "orphanet:3305", "UMLS:C0333694", "UMLS:C0795884", "MESH:D057891", "SNOMEDCT:62749002", "SNOMEDCT:726363000", "medgen:163193", "icd11.foundation:1705084192"], "information_content": 100.0}
{"id": "MONDO:0018027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duplication/inversion 15q11", "equivalent_identifiers": ["MONDO:0018027", "orphanet:3306", "UMLS:C3711376", "MESH:C580205", "MEDDRA:10081682", "SNOMEDCT:723332005", "medgen:777984"], "information_content": 100.0}
{"id": "MONDO:0013668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetrasomy 18p", "equivalent_identifiers": ["MONDO:0013668", "OMIM:614290", "orphanet:3307", "UMLS:C0795868", "MESH:C538306", "SNOMEDCT:698849002", "medgen:167079", "icd11.foundation:1182006735"], "information_content": 100.0}
{"id": "MONDO:0019606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "simple cryoglobulinemia", "equivalent_identifiers": ["MONDO:0019606", "orphanet:91139", "UMLS:C4510006", "SNOMEDCT:723674005", "medgen:1383731"], "information_content": 100.0}
{"id": "HP:0032290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monoclonal elevation of IgG", "equivalent_identifiers": ["HP:0032290", "UMLS:C5139247"], "information_content": 88.2}
{"id": "MONDO:0018028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetrasomy 5p", "equivalent_identifiers": ["MONDO:0018028", "orphanet:3309", "UMLS:C0795813", "SNOMEDCT:766755003", "medgen:1638801"], "information_content": 100.0}
{"id": "MONDO:0013172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymicrogyria with optic nerve hypoplasia", "equivalent_identifiers": ["MONDO:0013172", "orphanet:250972", "UMLS:C2750798", "MESH:C567715", "SNOMEDCT:771336003", "medgen:442565"], "information_content": 100.0}
{"id": "MONDO:0100350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 5", "equivalent_identifiers": ["MONDO:0100350", "DOID:0111203", "orphanet:139536", "UMLS:C1833308", "MESH:C563443", "SNOMEDCT:1197152005", "medgen:318838"], "information_content": 90.9}
{"id": "MONDO:0010110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetraamelia-multiple malformations syndrome", "equivalent_identifiers": ["MONDO:0010110", "DOID:0112191", "OMIM.PS:273395", "orphanet:3301", "UMLS:C2931218", "MESH:C536500", "SNOMEDCT:716249009", "medgen:419746"], "information_content": 92.8}
{"id": "HP:0010494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acromelia of the lower limbs", "equivalent_identifiers": ["HP:0010494", "UMLS:C4023805"], "information_content": 100.0}
{"id": "HP:0009103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the pelvis", "equivalent_identifiers": ["HP:0009103", "UMLS:C4024597"], "information_content": 82.1}
{"id": "MONDO:0017335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microtriplication 11q24.1", "equivalent_identifiers": ["MONDO:0017335", "orphanet:289522", "UMLS:C4749373", "SNOMEDCT:770663003", "medgen:1656562"], "information_content": 100.0}
{"id": "MONDO:0011248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 13q", "equivalent_identifiers": ["MONDO:0011248", "OMIM:602553", "orphanet:1590", "UMLS:C1865208", "UMLS:C4706502", "MESH:C566526", "SNOMEDCT:763527007", "medgen:355405"], "information_content": 100.0}
{"id": "MONDO:0020427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laubry-Pezzi syndrome", "equivalent_identifiers": ["MONDO:0020427", "orphanet:99094", "UMLS:C4707235", "SNOMEDCT:764955006", "medgen:1643612"], "information_content": 100.0}
{"id": "HP:0031567", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal aortic valve cusp morphology", "equivalent_identifiers": ["HP:0031567", "UMLS:C4531034"], "information_content": 82.6}
{"id": "HP:0011681", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subarterial ventricular septal defect", "equivalent_identifiers": ["HP:0011681", "UMLS:C3165130", "SNOMEDCT:448876006"], "information_content": 100.0}
{"id": "HP:0031668", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diastolic heart murmur", "equivalent_identifiers": ["HP:0031668", "UMLS:C0232262", "MEDDRA:10012759", "SNOMEDCT:30782001"], "information_content": 95.4}
{"id": "MONDO:0020428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital Gerbode defect", "equivalent_identifiers": ["MONDO:0020428", "orphanet:99095", "UMLS:C0344947", "SNOMEDCT:204312002", "medgen:576645"], "information_content": 100.0}
{"id": "HP:0031667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Holosystolic murmur", "equivalent_identifiers": ["HP:0031667", "UMLS:C0232258", "MEDDRA:10050566", "MEDDRA:10057907", "SNOMEDCT:71201008"], "information_content": 100.0}
{"id": "MONDO:0015562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 17q", "equivalent_identifiers": ["MONDO:0015562", "orphanet:1597", "UMLS:C4275171", "SNOMEDCT:715365000", "SNOMEDCT:732259001", "medgen:895716"], "information_content": 100.0}
{"id": "HP:0011651", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis", "equivalent_identifiers": ["HP:0011651", "UMLS:C3165091", "SNOMEDCT:448516008"], "information_content": 100.0}
{"id": "MONDO:0015565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cap polyposis", "equivalent_identifiers": ["MONDO:0015565", "orphanet:160148", "UMLS:C4303971", "SNOMEDCT:720604008", "medgen:929640", "icd11.foundation:1387262691"], "information_content": 100.0}
{"id": "MONDO:0019330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pili gemini", "equivalent_identifiers": ["MONDO:0019330", "orphanet:79492", "UMLS:C0019571", "MESH:C537188", "SNOMEDCT:42829009", "medgen:42460"], "information_content": 100.0}
{"id": "orphanet:79493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brooke-Spiegler syndrome", "equivalent_identifiers": ["orphanet:79493"]}
{"id": "MONDO:0021812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cylindroma", "equivalent_identifiers": ["MONDO:0021812", "UMLS:C1305968", "UMLS:C5441545", "MEDDRA:10012425", "NCIT:C27094", "SNOMEDCT:274903001", "SNOMEDCT:447147008", "SNOMEDCT:64773009", "HP:0031024"], "information_content": 89.4}
{"id": "MONDO:0002297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermal appendage tumor", "equivalent_identifiers": ["MONDO:0002297", "DOID:2433", "UMLS:C0334342", "UMLS:C0345988", "MEDDRA:10045153", "NCIT:C4463", "NCIT:C7580", "SNOMEDCT:126489007", "SNOMEDCT:55681005", "medgen:87527", "HP:0012842"], "information_content": 65.9}
{"id": "HP:0010732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nodular changes affecting the eyelids", "equivalent_identifiers": ["HP:0010732", "UMLS:C4023716"], "information_content": 83.1}
{"id": "HP:0000372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal auditory canal morphology", "equivalent_identifiers": ["HP:0000372", "UMLS:C4021807"], "information_content": 80.6}
{"id": "HP:0010287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the submandibular glands", "equivalent_identifiers": ["HP:0010287", "UMLS:C4023920"], "information_content": 83.1}
{"id": "HP:0010288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the sublingual glands", "equivalent_identifiers": ["HP:0010288", "UMLS:C4023919"], "information_content": 84.8}
{"id": "MONDO:0011055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 10p", "equivalent_identifiers": ["MONDO:0011055", "orphanet:1580", "UMLS:C1832431", "UMLS:C4304502", "MESH:C563337", "SNOMEDCT:719686003", "medgen:321954"], "information_content": 95.4}
{"id": "HP:0020208", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eating-induced seizure", "equivalent_identifiers": ["HP:0020208", "UMLS:C5397586"], "information_content": 100.0}
{"id": "HP:0012703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal subarachnoid space morphology", "equivalent_identifiers": ["HP:0012703", "UMLS:C4022765"], "information_content": 86.3}
{"id": "HP:0030810", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tongue physiology", "equivalent_identifiers": ["HP:0030810", "UMLS:C4280754"], "information_content": 83.1}
{"id": "MONDO:0019323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pemphigus erythematosus", "equivalent_identifiers": ["MONDO:0019323", "orphanet:79480", "EFO:0008603", "UMLS:C0263312", "MEDDRA:10034281", "MEDDRA:10058917", "SNOMEDCT:36739006", "medgen:537812", "icd11.foundation:399813106"], "information_content": 100.0}
{"id": "MONDO:0019324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pemphigus foliaceus", "equivalent_identifiers": ["MONDO:0019324", "DOID:0080850", "orphanet:79481", "EFO:0008601", "UMLS:C0263313", "MEDDRA:10057054", "MEDDRA:10057069", "SNOMEDCT:35154004", "medgen:75513", "icd11.foundation:24246260", "ICD10:L10.2"], "information_content": 95.4}
{"id": "HP:0025527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Serpiginous cutaneous lesion", "equivalent_identifiers": ["HP:0025527", "UMLS:C4476832"], "information_content": 100.0}
{"id": "MONDO:0015546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-distal monosomy 10q", "equivalent_identifiers": ["MONDO:0015546", "orphanet:1581", "UMLS:C4749375", "SNOMEDCT:770665005", "medgen:1657787"], "information_content": 100.0}
{"id": "MONDO:0019112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cancer-associated retinopathy", "equivalent_identifiers": ["MONDO:0019112", "orphanet:71505", "UMLS:C1321315", "UMLS:C3178817", "MESH:D059545", "MEDDRA:10065311", "SNOMEDCT:404663008", "medgen:729915", "icd11.foundation:1216073790"], "information_content": 100.0}
{"id": "MONDO:0021148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female reproductive system neoplasm", "equivalent_identifiers": ["MONDO:0021148", "UMLS:C0017416", "MESH:D005833", "MEDDRA:10016412", "MEDDRA:10016418", "MEDDRA:10061153", "NCIT:C3053", "medgen:9004", "HP:0033020"], "information_content": 50.9}
{"id": "HP:0030627", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foveal hyporeflective spaces on macular OCT", "equivalent_identifiers": ["HP:0030627", "UMLS:C4073097"], "information_content": 92.8}
{"id": "MONDO:0017337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency", "equivalent_identifiers": ["MONDO:0017337", "orphanet:289548", "UMLS:C4707238", "SNOMEDCT:764960005", "medgen:1643960"], "information_content": 100.0}
{"id": "HP:0007574", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bronze skin", "equivalent_identifiers": ["HP:0007574", "UMLS:C2939074", "UMLS:C4024842", "MEDDRA:10070792"], "information_content": 100.0}
{"id": "HP:0030369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Induced vaginal delivery", "equivalent_identifiers": ["HP:0030369", "UMLS:C4072908"], "information_content": 100.0}
{"id": "HP:0012854", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midshaft hypospadias", "equivalent_identifiers": ["HP:0012854", "UMLS:C4022708"], "information_content": 100.0}
{"id": "MONDO:0018417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 60", "equivalent_identifiers": ["MONDO:0018417", "orphanet:401800", "UMLS:C5190589", "SNOMEDCT:782746009", "medgen:1683240"], "information_content": 100.0}
{"id": "MONDO:0019113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign paroxysmal torticollis of infancy", "equivalent_identifiers": ["MONDO:0019113", "orphanet:71518", "UMLS:C3494934", "SNOMEDCT:719521002", "medgen:782128", "icd11.foundation:545726308"], "information_content": 100.0}
{"id": "MONDO:0019114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudodystonia", "equivalent_identifiers": ["MONDO:0019114", "orphanet:71519", "UMLS:C0752208", "MEDDRA:10072376", "SNOMEDCT:1197149002", "medgen:155722", "icd11.foundation:1905355308"], "information_content": 100.0}
{"id": "MONDO:0015516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symbrachydactyly of hands and feet", "equivalent_identifiers": ["MONDO:0015516", "orphanet:1570", "UMLS:C2931719", "MESH:C538062", "medgen:419146", "icd11.foundation:159463685"], "information_content": 92.8}
{"id": "HP:0100745", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the humeroulnar joint", "equivalent_identifiers": ["HP:0100745", "UMLS:C4021980"], "information_content": 92.8}
{"id": "MONDO:0017174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Machado-Joseph disease type 1", "equivalent_identifiers": ["MONDO:0017174", "orphanet:276238", "UMLS:C0686349", "UMLS:C0751668", "SNOMEDCT:91953003", "medgen:155610", "icd11.foundation:1094680019"], "information_content": 100.0}
{"id": "MONDO:0004992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cancer", "equivalent_identifiers": ["MONDO:0004992", "DOID:0050686", "DOID:0050687", "DOID:162", "UMLS:C0006826", "UMLS:C0027653", "UMLS:C4023185", "MESH:D009371", "MEDDRA:10007050", "MEDDRA:10007051", "MEDDRA:10025691", "MEDDRA:10026655", "MEDDRA:10028997", "MEDDRA:10049516", "MEDDRA:10073835", "NCIT:C3263", "NCIT:C9305", "SNOMEDCT:1240414004", "SNOMEDCT:363346000", "medgen:14297", "ICD10:C80.1", "ICD9:199", "HP:0011793"], "information_content": 36.3}
{"id": "MONDO:0019321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical Werner syndrome", "equivalent_identifiers": ["MONDO:0019321", "orphanet:79474", "UMLS:C4275075", "SNOMEDCT:715633008", "medgen:894770", "icd11.foundation:1661142154"], "information_content": 100.0}
{"id": "HP:0004361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating leptin concentration", "equivalent_identifiers": ["HP:0004361", "UMLS:C4025339"], "information_content": 88.2}
{"id": "MONDO:0021245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mouth neoplasm", "equivalent_identifiers": ["MONDO:0021245", "EFO:0003868", "UMLS:C0026640", "UMLS:C0149744", "UMLS:C4280289", "MESH:D009062", "MEDDRA:10028029", "MEDDRA:10028999", "MEDDRA:10029001", "MEDDRA:10031008", "MEDDRA:10059037", "MEDDRA:10061325", "NCIT:C7606", "NCIT:C8989", "SNOMEDCT:1071000119107", "SNOMEDCT:126797001", "SNOMEDCT:235075007", "medgen:7722", "HP:0100649"], "information_content": 61.3}
{"id": "MONDO:0016176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy", "equivalent_identifiers": ["MONDO:0016176", "orphanet:209004", "UMLS:C5680822", "medgen:1842867"], "information_content": 100.0}
{"id": "HP:0025346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating beta-2-microglobulin level", "equivalent_identifiers": ["HP:0025346", "UMLS:C4476716"], "information_content": 100.0}
{"id": "MONDO:0018418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 66", "equivalent_identifiers": ["MONDO:0018418", "orphanet:401815", "UMLS:C5190590", "SNOMEDCT:782747000", "medgen:1675102"], "information_content": 100.0}
{"id": "HP:0001301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic sensorineural polyneuropathy", "equivalent_identifiers": ["HP:0001301", "UMLS:C4025794"], "information_content": 100.0}
{"id": "MONDO:0007119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated aniridia", "equivalent_identifiers": ["MONDO:0007119", "OMIM.PS:106210", "orphanet:250923"], "information_content": 90.9}
{"id": "HP:0008059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the macula", "equivalent_identifiers": ["HP:0008059", "UMLS:C4024742"], "information_content": 88.2}
{"id": "HP:0030622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal foveal pit on macular OCT", "equivalent_identifiers": ["HP:0030622", "UMLS:C4073092"], "information_content": 100.0}
{"id": "MONDO:0010237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-plagiocephaly syndrome", "equivalent_identifiers": ["MONDO:0010237", "OMIM:300064", "orphanet:2898", "UMLS:C2931516", "MESH:C537512", "SNOMEDCT:719812008", "medgen:419824"], "information_content": 100.0}
{"id": "MONDO:0015484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cysticercosis", "equivalent_identifiers": ["MONDO:0015484", "DOID:10079", "orphanet:1560", "EFO:0007231", "UMLS:C0010678", "MESH:D003551", "MEDDRA:10011757", "MEDDRA:10011775", "NCIT:C34520", "SNOMEDCT:105684008", "SNOMEDCT:59051007", "medgen:4122", "icd11.foundation:1324863907", "ICD10:B69", "ICD9:123.1"], "information_content": 100.0}
{"id": "HP:0010651", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal meningeal morphology", "equivalent_identifiers": ["HP:0010651", "UMLS:C4023758"], "information_content": 75.5}
{"id": "HP:0410234", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased anti-parasite IgE antibody level", "equivalent_identifiers": ["HP:0410234", "UMLS:C4732873"], "information_content": 100.0}
{"id": "MONDO:0017321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pili torti-onychodysplasia syndrome", "equivalent_identifiers": ["MONDO:0017321", "orphanet:2890", "UMLS:C2931483", "MESH:C537399", "medgen:419090"], "information_content": 100.0}
{"id": "MONDO:0017176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Machado-Joseph disease type 3", "equivalent_identifiers": ["MONDO:0017176", "orphanet:276244", "UMLS:C0686351", "UMLS:C0751670", "SNOMEDCT:91955005", "medgen:155611", "icd11.foundation:1540439031"], "information_content": 100.0}
{"id": "MONDO:0017175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Machado-Joseph disease type 2", "equivalent_identifiers": ["MONDO:0017175", "orphanet:276241", "UMLS:C0686350", "UMLS:C0751669", "SNOMEDCT:91954009", "medgen:199707", "icd11.foundation:1775824880"], "information_content": 100.0}
{"id": "MONDO:0018419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 67", "equivalent_identifiers": ["MONDO:0018419", "orphanet:401820", "UMLS:C4707829", "SNOMEDCT:766767001", "medgen:1644708"], "information_content": 100.0}
{"id": "MONDO:0018217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Koolen-de Vries syndrome due to a point mutation", "equivalent_identifiers": ["MONDO:0018217", "orphanet:363965", "UMLS:C5680974", "medgen:1843302"], "information_content": 100.0}
{"id": "HP:0025152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poor visual behavior for age", "equivalent_identifiers": ["HP:0025152", "UMLS:C4476619"], "information_content": 100.0}
{"id": "HP:0011194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with series of focal spikes", "equivalent_identifiers": ["HP:0011194", "UMLS:C4023480"], "information_content": 100.0}
{"id": "MONDO:0035009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated mesenteric vein thrombosis", "equivalent_identifiers": ["MONDO:0035009", "orphanet:583861", "icd11.foundation:213868120"], "information_content": 100.0}
{"id": "HP:0410282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating amylase concentration", "equivalent_identifiers": ["HP:0410282", "UMLS:C5139447"], "information_content": 92.8}
{"id": "HP:6000377", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intramural intestinal gas", "equivalent_identifiers": ["HP:6000377", "NCIT:C122580", "UMLS:C1112565", "MEDDRA:10057030"], "information_content": 100.0}
{"id": "MONDO:0008585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HELLP syndrome", "equivalent_identifiers": ["MONDO:0008585", "DOID:13133", "orphanet:244242", "EFO:0007297", "UMLS:C0162739", "MESH:D017359", "MEDDRA:10049058", "NCIT:C84750", "SNOMEDCT:95605009", "medgen:58162", "icd11.foundation:1748922908", "ICD10:O14.2"], "information_content": 100.0}
{"id": "HP:0008517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the sacrum", "equivalent_identifiers": ["HP:0008517", "UMLS:C4024660"], "information_content": 89.4}
{"id": "HP:0034231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sigmoid kidney", "equivalent_identifiers": ["HP:0034231", "UMLS:C5676817"], "information_content": 100.0}
{"id": "MONDO:0015734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectal duplication", "equivalent_identifiers": ["MONDO:0015734", "orphanet:171220", "UMLS:C4511483", "SNOMEDCT:725910009", "medgen:1393874", "icd11.foundation:1354283575", "HP:6000336"], "information_content": 100.0}
{"id": "HP:0008060", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the fovea", "equivalent_identifiers": ["HP:0008060", "UMLS:C4024741"], "information_content": 92.8}
{"id": "MONDO:0016354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum-Cockayne syndrome complex", "equivalent_identifiers": ["MONDO:0016354", "orphanet:220295", "UMLS:C4304411", "NCIT:C156031", "SNOMEDCT:719819004", "medgen:930080", "icd11.foundation:2002862606"], "information_content": 87.2}
{"id": "MONDO:0017320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phosphoenolpyruvate carboxykinase deficiency", "equivalent_identifiers": ["MONDO:0017320", "orphanet:2880", "UMLS:C0268194", "MESH:C536654", "NCIT:C99015", "SNOMEDCT:5335002", "medgen:120618", "icd11.foundation:1350463176"], "information_content": 92.8}
{"id": "MONDO:0008863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sitosterolemia", "equivalent_identifiers": ["MONDO:0008863", "DOID:0090019", "OMIM.PS:210250", "orphanet:2882", "UMLS:C0342907", "MESH:C537345", "MEDDRA:10063985", "MEDDRA:10063989", "MEDDRA:10063990", "MEDDRA:10063991", "MEDDRA:10064629", "MEDDRA:10064636", "NCIT:C125694", "SNOMEDCT:238104009", "medgen:87466"], "information_content": 92.8}
{"id": "HP:0005059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arthralgia/arthritis", "equivalent_identifiers": ["HP:0005059", "UMLS:C4025256"], "information_content": 100.0}
{"id": "MONDO:0018421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 69", "equivalent_identifiers": ["MONDO:0018421", "orphanet:401830", "UMLS:C5190577", "SNOMEDCT:782725000", "medgen:1679277"], "information_content": 100.0}
{"id": "MONDO:0018422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 70", "equivalent_identifiers": ["MONDO:0018422", "orphanet:401835", "UMLS:C4749431", "SNOMEDCT:770724001", "medgen:1655287"], "information_content": 100.0}
{"id": "MONDO:0009859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PHAVER syndrome", "equivalent_identifiers": ["MONDO:0009859", "OMIM:261575", "orphanet:2876", "UMLS:C1849928", "MESH:C538357", "SNOMEDCT:723453002", "medgen:376670"], "information_content": 100.0}
{"id": "MONDO:0009858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pfeiffer-Palm-Teller syndrome", "equivalent_identifiers": ["MONDO:0009858", "OMIM:261560", "orphanet:2871", "UMLS:C1849929", "MESH:C537889", "SNOMEDCT:726672000", "medgen:342366"], "information_content": 100.0}
{"id": "MONDO:0015473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptorchidism-arachnodactyly-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0015473", "orphanet:1548", "UMLS:C4707233", "SNOMEDCT:764950001", "medgen:1647147"], "information_content": 100.0}
{"id": "MONDO:0019839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panhypophysitis", "equivalent_identifiers": ["MONDO:0019839", "orphanet:95513", "UMLS:C5190786", "SNOMEDCT:783016009", "medgen:1674527"], "information_content": 100.0}
{"id": "HP:0011751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal posterior pituitary morphogenesis", "equivalent_identifiers": ["HP:0011751", "UMLS:C4023204"], "information_content": 81.3}
{"id": "HP:0008240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Secondary growth hormone deficiency", "equivalent_identifiers": ["HP:0008240", "UMLS:C4024716"], "information_content": 100.0}
{"id": "HP:0012504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal size of pituitary gland", "equivalent_identifiers": ["HP:0012504", "UMLS:C4022874"], "information_content": 83.1}
{"id": "MONDO:0009036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiocranial syndrome, Pfeiffer type", "equivalent_identifiers": ["MONDO:0009036", "OMIM:218450", "orphanet:2872", "UMLS:C1857495", "MESH:C535578", "SNOMEDCT:720606005", "medgen:346598", "icd11.foundation:629231429"], "information_content": 100.0}
{"id": "MONDO:0007409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptomicrotia-brachydactyly-excess fingertip arch syndrome", "equivalent_identifiers": ["MONDO:0007409", "OMIM:123560", "orphanet:1547", "UMLS:C1852454", "MESH:C536219", "SNOMEDCT:725096002", "medgen:377678"], "information_content": 100.0}
{"id": "MONDO:0005724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptococcosis", "equivalent_identifiers": ["MONDO:0005724", "DOID:12053", "orphanet:1546", "EFO:0007229", "UMLS:C0010414", "UMLS:C5235087", "MESH:D003453", "MEDDRA:10006837", "MEDDRA:10011490", "MEDDRA:10011491", "MEDDRA:10011493", "MEDDRA:10044079", "NCIT:C2967", "SNOMEDCT:42386007", "medgen:8189", "icd11.foundation:390527954", "ICD10:B45", "ICD9:117.5"], "information_content": 89.4}
{"id": "MONDO:0005402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoid leukemia", "equivalent_identifiers": ["MONDO:0005402", "DOID:1037", "DOID:10747", "EFO:0004289", "UMLS:C0023448", "UMLS:C0152271", "MESH:D007945", "MEDDRA:10024301", "MEDDRA:10024302", "MEDDRA:10024304", "MEDDRA:10024337", "MEDDRA:10024339", "MEDDRA:10024341", "MEDDRA:10025230", "MEDDRA:10025234", "MEDDRA:10025235", "MEDDRA:10025270", "MEDDRA:10025271", "MEDDRA:10025299", "MEDDRA:10025303", "MEDDRA:10025304", "MEDDRA:10025307", "MEDDRA:10042284", "MEDDRA:10045996", "MEDDRA:10045997", "MEDDRA:10054647", "MEDDRA:10060397", "NCIT:C7539", "SNOMEDCT:1172709000", "SNOMEDCT:188725004", "SNOMEDCT:188726003", "SNOMEDCT:32280000", "SNOMEDCT:33560006", "medgen:9728", "ICD10:C91", "ICD9:204", "HP:0005526"], "information_content": 61.6}
{"id": "MONDO:0017317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phakomatosis pigmentokeratotica", "equivalent_identifiers": ["MONDO:0017317", "orphanet:2874", "UMLS:C2931658", "MESH:C537893", "SNOMEDCT:723455009", "medgen:419860", "icd11.foundation:960559196"], "information_content": 100.0}
{"id": "MONDO:0005221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal pelvis urothelial carcinoma", "equivalent_identifiers": ["MONDO:0005221", "DOID:5974", "EFO:0003017", "UMLS:C0238410", "UMLS:C1319314", "UMLS:C4087468", "MEDDRA:10077840", "NCIT:C7355", "SNOMEDCT:408642003", "medgen:1648131", "HP:0030409"], "information_content": 78.8}
{"id": "MONDO:0017318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phakomatosis pigmentovascularis", "equivalent_identifiers": ["MONDO:0017318", "orphanet:2875", "UMLS:C1274879", "MESH:C537894", "SNOMEDCT:403545005", "medgen:220888", "icd11.foundation:1768130414"], "information_content": 90.9}
{"id": "MONDO:0019838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenohypophysitis", "equivalent_identifiers": ["MONDO:0019838", "orphanet:95512", "UMLS:C5190880", "SNOMEDCT:783243008", "medgen:1677203"], "information_content": 100.0}
{"id": "MONDO:0018423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 71", "equivalent_identifiers": ["MONDO:0018423", "orphanet:401840", "UMLS:C5190578", "SNOMEDCT:782726004", "medgen:1680976"], "information_content": 100.0}
{"id": "MONDO:0017315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-webbed neck-heart disease syndrome", "equivalent_identifiers": ["MONDO:0017315", "orphanet:2865", "UMLS:C2930950", "MESH:C535613", "SNOMEDCT:721073008", "medgen:419677"], "information_content": 100.0}
{"id": "MONDO:0017316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-deafness-neutrophil dysfunction-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0017316", "orphanet:2866", "UMLS:C4274785", "SNOMEDCT:716192009", "medgen:906653"], "information_content": 100.0}
{"id": "MONDO:0011046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, Brussels type", "equivalent_identifiers": ["MONDO:0011046", "OMIM:601350", "orphanet:2867", "UMLS:C1832439", "MESH:C537121", "SNOMEDCT:719213009", "medgen:318625", "icd11.foundation:251068104"], "information_content": 100.0}
{"id": "MONDO:0007461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-valvular heart disease-characteristic facies syndrome", "equivalent_identifiers": ["MONDO:0007461", "OMIM:126190", "orphanet:2868", "UMLS:C1852073", "MESH:C565094", "medgen:338866"], "information_content": 100.0}
{"id": "orphanet:2869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peutz-Jeghers syndrome", "equivalent_identifiers": ["orphanet:2869"]}
{"id": "HP:0012720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nose Neoplasms", "equivalent_identifiers": ["HP:0012720", "UMLS:C0028433", "UMLS:C0751394", "MEDDRA:10060768", "SNOMEDCT:126669004", "MESH:D009669"], "information_content": 95.4}
{"id": "MONDO:0005304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary tract neoplasm", "equivalent_identifiers": ["MONDO:0005304", "DOID:0050625", "EFO:0003891", "UMLS:C0005426", "UMLS:C4020709", "MESH:D001661", "MEDDRA:10004667", "MEDDRA:10004668", "MEDDRA:10004669", "MEDDRA:10028982", "SNOMEDCT:126853008", "medgen:14118", "HP:0100574"], "information_content": 72.0}
{"id": "HP:0100644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melanonychia", "equivalent_identifiers": ["HP:0100644", "UMLS:C1142305", "MEDDRA:10058330", "SNOMEDCT:402633003"], "information_content": 100.0}
{"id": "HP:0100669", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pigmentation of the oral mucosa", "equivalent_identifiers": ["HP:0100669", "UMLS:C4020959", "UMLS:C5539853"], "information_content": 88.2}
{"id": "MONDO:0008499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-wormian bones-dextrocardia syndrome", "equivalent_identifiers": ["MONDO:0008499", "OMIM:185120", "orphanet:2863", "UMLS:C1861448", "MESH:C566105", "SNOMEDCT:763631006", "medgen:350025"], "information_content": 100.0}
{"id": "MONDO:0017177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemihyperplasia-multiple lipomatosis syndrome", "equivalent_identifiers": ["MONDO:0017177", "orphanet:276280", "UMLS:C4749904", "MEDDRA:10085514", "SNOMEDCT:771440006", "medgen:1651269"], "information_content": 100.0}
{"id": "HP:0012887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ovarian serous cystadenoma", "equivalent_identifiers": ["HP:0012887", "NCIT:C4511", "UMLS:C0346170", "UMLS:C4020715", "SNOMEDCT:119421006"], "information_content": 95.4}
{"id": "MONDO:0015515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine palmitoyltransferase II deficiency", "equivalent_identifiers": ["MONDO:0015515", "DOID:0060235", "orphanet:157", "UMLS:C0342790", "MESH:C535589", "NCIT:C114766", "SNOMEDCT:238002005", "medgen:137978", "icd11.foundation:204058632"], "information_content": 90.9}
{"id": "MONDO:0700335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated dilated cardiomyopathy", "equivalent_identifiers": ["MONDO:0700335", "orphanet:154", "UMLS:C5679590", "medgen:1826005", "icd11.foundation:949016860"], "information_content": 74.7}
{"id": "HP:0030198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of distal limb muscles", "equivalent_identifiers": ["HP:0030198", "UMLS:C4022585"], "information_content": 100.0}
{"id": "MONDO:0017340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile nasopharyngeal angiofibroma", "equivalent_identifiers": ["MONDO:0017340", "orphanet:289596", "UMLS:C1367536", "MEDDRA:10073683", "NCIT:C27479", "SNOMEDCT:716590006", "medgen:237137", "HP:0030429"], "information_content": 92.8}
{"id": "MONDO:0006363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peritoneal multicystic mesothelioma", "equivalent_identifiers": ["MONDO:0006363", "orphanet:168816", "EFO:1000468", "UMLS:C1334818", "NCIT:C6536", "SNOMEDCT:716650003", "medgen:233198"], "information_content": 100.0}
{"id": "MONDO:0859006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal femoral focal deficiency", "equivalent_identifiers": ["MONDO:0859006", "orphanet:633228", "UMLS:C0431996", "MEDDRA:10078473", "SNOMEDCT:205211001", "medgen:609280", "HP:0030772"], "information_content": 100.0}
{"id": "HP:0009108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the femoral head and neck", "equivalent_identifiers": ["HP:0009108", "UMLS:C4024594"], "information_content": 89.4}
{"id": "HP:0011428", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short fetal femur length", "equivalent_identifiers": ["HP:0011428", "UMLS:C0743924"], "information_content": 100.0}
{"id": "MONDO:0005512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant peritoneal mesothelioma", "equivalent_identifiers": ["MONDO:0005512", "DOID:1788", "orphanet:168811", "EFO:0005567", "UMLS:C0346109", "UMLS:C0854886", "MEDDRA:10034669", "MEDDRA:10056558", "NCIT:C8704", "NCIT:C9350", "medgen:83406", "ICD10:C45.1"], "information_content": 84.2}
{"id": "HP:5200044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced attention regulation", "equivalent_identifiers": ["HP:5200044", "UMLS:C5826948"], "information_content": 90.9}
{"id": "HP:0040321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dark yellow urine", "equivalent_identifiers": ["HP:0040321", "UMLS:C4304293", "SNOMEDCT:720001001"], "information_content": 100.0}
{"id": "MONDO:0010913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caroli disease", "equivalent_identifiers": ["MONDO:0010913", "DOID:0050876", "OMIM:600643", "orphanet:53035", "EFO:1001286", "UMLS:C0162510", "UMLS:C1833541", "MESH:C531647", "MESH:D016767", "MEDDRA:10007671", "NCIT:C84619", "SNOMEDCT:717232005", "medgen:57924", "icd11.foundation:1757434239"], "information_content": 100.0}
{"id": "HP:0045056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating alpha-fetoprotein concentration", "equivalent_identifiers": ["HP:0045056", "UMLS:C4073179", "UMLS:C5826838"], "information_content": 89.4}
{"id": "MONDO:0019769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Sutherland-Haan type", "equivalent_identifiers": ["MONDO:0019769", "orphanet:93950", "UMLS:C5681613", "medgen:1842836"], "information_content": 100.0}
{"id": "orphanet:145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hereditary breast and/or ovarian cancer syndrome", "equivalent_identifiers": ["orphanet:145"]}
{"id": "HP:0011027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fallopian tube morphology", "equivalent_identifiers": ["HP:0011027", "UMLS:C0281842"], "information_content": 78.8}
{"id": "MONDO:0015686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary peritoneal carcinoma", "equivalent_identifiers": ["MONDO:0015686", "orphanet:168829", "UMLS:C1514428", "NCIT:C40022", "medgen:269516", "HP:0030406"], "information_content": 71.4}
{"id": "orphanet:144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lynch syndrome", "equivalent_identifiers": ["orphanet:144"]}
{"id": "MONDO:0021066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary system neoplasm", "equivalent_identifiers": ["MONDO:0021066", "UMLS:C0042076", "UMLS:C5779663", "MEDDRA:10046583", "MEDDRA:10061398", "NCIT:C192666", "NCIT:C3431", "SNOMEDCT:126879004", "SNOMEDCT:254913005", "medgen:52949", "HP:0010786"], "information_content": 55.4}
{"id": "MONDO:0015677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac diverticulum", "equivalent_identifiers": ["MONDO:0015677", "orphanet:1686", "UMLS:C0546315", "UMLS:C4020965", "SNOMEDCT:718181001", "medgen:903640", "HP:0100571"], "information_content": 92.8}
{"id": "MONDO:0000628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system organ benign neoplasm", "equivalent_identifiers": ["MONDO:0000628", "DOID:0060090", "UMLS:C0347509", "NCIT:C188049", "SNOMEDCT:92048008", "medgen:488882", "HP:0100835"], "information_content": 71.2}
{"id": "MONDO:0018056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bullous lichen planus", "equivalent_identifiers": ["MONDO:0018056", "orphanet:33408", "UMLS:C0023648", "MEDDRA:10056960", "NCIT:C34778", "SNOMEDCT:6111009", "medgen:9755", "icd11.foundation:606709958"], "information_content": 100.0}
{"id": "MONDO:0017780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "20p13 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0017780", "orphanet:313781", "UMLS:C4750789", "SNOMEDCT:773346008", "medgen:1655817"], "information_content": 100.0}
{"id": "MONDO:0018055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pediatric hepatocellular carcinoma", "equivalent_identifiers": ["MONDO:0018055", "DOID:0070322", "orphanet:33402", "UMLS:C0279606", "NCIT:C7955", "SNOMEDCT:1208349005", "medgen:75999"], "information_content": 87.2}
{"id": "MONDO:0006468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid gland undifferentiated (anaplastic) carcinoma", "equivalent_identifiers": ["MONDO:0006468", "DOID:0080522", "orphanet:142", "EFO:1000595", "UMLS:C0238461", "MESH:D065646", "MEDDRA:10002240", "NCIT:C3878", "SNOMEDCT:255031003", "medgen:116064", "icd11.foundation:320540024", "HP:0011779"], "information_content": 81.3}
{"id": "MONDO:0001831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "irregular astigmatism", "equivalent_identifiers": ["MONDO:0001831", "DOID:13919", "UMLS:C0152194", "MEDDRA:10022990", "SNOMEDCT:47099006", "medgen:508922", "icd11.foundation:1086387343", "ICD10:H52.21", "ICD9:367.22", "HP:0031792"], "information_content": 100.0}
{"id": "MONDO:0019766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Porteous type", "equivalent_identifiers": ["MONDO:0019766", "orphanet:93945", "UMLS:C5681616", "medgen:1842708"], "information_content": 100.0}
{"id": "MONDO:0019767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hamel cerebro-palato-cardiac syndrome", "equivalent_identifiers": ["MONDO:0019767", "orphanet:93946", "UMLS:C5681615", "medgen:1842506", "icd11.foundation:1903143844"], "information_content": 100.0}
{"id": "MONDO:0019768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Golabi-Ito-hall type", "equivalent_identifiers": ["MONDO:0019768", "orphanet:93947", "UMLS:C5681614", "medgen:1842639"], "information_content": 100.0}
{"id": "MONDO:0018904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary membranoproliferative glomerulonephritis", "equivalent_identifiers": ["MONDO:0018904", "orphanet:54370"], "information_content": 85.5}
{"id": "HP:0100736", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal soft palate morphology", "equivalent_identifiers": ["HP:0100736", "UMLS:C4021984"], "information_content": 78.3}
{"id": "MONDO:0019764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngotracheoesophageal cleft type 4", "equivalent_identifiers": ["MONDO:0019764", "orphanet:93941", "UMLS:C0584827", "SNOMEDCT:306953000", "medgen:667243"], "information_content": 100.0}
{"id": "MONDO:0003640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "verruciform xanthoma of skin", "equivalent_identifiers": ["MONDO:0003640", "DOID:5769", "UMLS:C0346054", "NCIT:C4478", "SNOMEDCT:254756007", "SNOMEDCT:66174008", "medgen:91076", "HP:0031517"], "information_content": 100.0}
{"id": "HP:0100803", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal periungual morphology", "equivalent_identifiers": ["HP:0100803", "UMLS:C4021966"], "information_content": 89.4}
{"id": "MONDO:0015776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic chondrodysplasia punctata", "equivalent_identifiers": ["MONDO:0015776", "DOID:2580", "OMIM.PS:215100", "orphanet:177", "UMLS:C0282529", "MESH:D018902", "NCIT:C85047", "SNOMEDCT:56692003", "medgen:79471", "icd11.foundation:260357080", "ICD10:E71.540"], "information_content": 88.2}
{"id": "MONDO:0006843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular holes", "equivalent_identifiers": ["MONDO:0006843", "DOID:7633", "EFO:1001028", "UMLS:C0024441", "MEDDRA:10051058", "NCIT:C34795", "SNOMEDCT:232006002", "medgen:6176", "HP:0011508"], "information_content": 95.4}
{"id": "HP:0030530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arcuate scotoma", "equivalent_identifiers": ["HP:0030530", "UMLS:C0271198", "UMLS:C4280302", "MEDDRA:10003081", "SNOMEDCT:15462009"], "information_content": 100.0}
{"id": "HP:0025369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thick growth plates", "equivalent_identifiers": ["HP:0025369", "UMLS:C4476735"], "information_content": 100.0}
{"id": "HP:0030299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal distal femoral metaphysis morphology", "equivalent_identifiers": ["HP:0030299", "UMLS:C4022527"], "information_content": 95.4}
{"id": "HP:0005923", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hand metaphysis morphology", "equivalent_identifiers": ["HP:0005923", "UMLS:C4025108"], "information_content": 95.4}
{"id": "HP:0006634", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteosclerosis of ribs", "equivalent_identifiers": ["HP:0006634", "UMLS:C4025013"], "information_content": 100.0}
{"id": "HP:0045079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Distal femoral metaphyseal irregularity", "equivalent_identifiers": ["HP:0045079", "UMLS:C4477052"], "information_content": 100.0}
{"id": "MONDO:0015766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholera", "equivalent_identifiers": ["MONDO:0015766", "DOID:1498", "orphanet:173", "UMLS:C0008354", "MESH:D002771", "MEDDRA:10008631", "MEDDRA:10008632", "MEDDRA:10008634", "MEDDRA:10045658", "MEDDRA:10047397", "MEDDRA:10047398", "MEDDRA:10088337", "NCIT:C157812", "SNOMEDCT:63650001", "medgen:40263", "icd11.foundation:257068234", "ICD10:A00", "ICD9:001"], "information_content": 100.0}
{"id": "HP:0011036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of renal excretion", "equivalent_identifiers": ["HP:0011036", "UMLS:C4023579", "MP:0005555"], "information_content": 76.2}
{"id": "MONDO:0016775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lichen planus pemphigoides", "equivalent_identifiers": ["MONDO:0016775", "orphanet:254478", "UMLS:C0406369", "MEDDRA:10087934", "SNOMEDCT:238653005", "medgen:590352", "icd11.foundation:1373932539"], "information_content": 100.0}
{"id": "MONDO:0015762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial intrahepatic cholestasis", "equivalent_identifiers": ["MONDO:0015762", "DOID:0070221", "OMIM.PS:211600", "orphanet:172", "UMLS:C0268312", "MEDDRA:10076033", "NCIT:C84453", "medgen:75668", "icd11.foundation:1457142642"], "information_content": 81.3}
{"id": "MONDO:0013433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary sclerosing cholangitis", "equivalent_identifiers": ["MONDO:0013433", "DOID:0060643", "OMIM:613806", "orphanet:171", "UMLS:C0566602", "MEDDRA:10036732", "SNOMEDCT:197441003", "medgen:107565", "icd11.foundation:857962451", "ICD10:K83.01"], "information_content": 95.4}
{"id": "HP:0010638", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated alkaline phosphatase of hepatic origin", "equivalent_identifiers": ["HP:0010638", "UMLS:C4023764"], "information_content": 100.0}
{"id": "HP:0030168", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilated superficial abdominal veins", "equivalent_identifiers": ["HP:0030168", "UMLS:C4021050"], "information_content": 95.4}
{"id": "MONDO:0005008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colorectal adenocarcinoma", "equivalent_identifiers": ["MONDO:0005008", "DOID:0050861", "DOID:0050913", "EFO:0000365", "UMLS:C1319315", "MEDDRA:10052360", "NCIT:C5105", "SNOMEDCT:408645001", "medgen:230816", "HP:0040275"], "information_content": 70.8}
{"id": "MONDO:0021253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gallbladder neoplasm", "equivalent_identifiers": ["MONDO:0021253", "EFO:0004606", "UMLS:C0016978", "UMLS:C4020708", "MESH:D005706", "MEDDRA:10050033", "MEDDRA:10050034", "MEDDRA:10073072", "NCIT:C3048", "SNOMEDCT:126854002", "medgen:42134", "HP:0100575"], "information_content": 69.2}
{"id": "HP:0009468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of the 2nd finger", "equivalent_identifiers": ["HP:0009468", "UMLS:C4021468"], "information_content": 90.9}
{"id": "HP:0011603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital malformation of the great arteries", "equivalent_identifiers": ["HP:0011603", "UMLS:C0478012"], "information_content": 75.3}
{"id": "MONDO:0019334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive hyperinsulinism due to Kir6.2 deficiency", "equivalent_identifiers": ["MONDO:0019334", "orphanet:79644", "UMLS:C5191078", "SNOMEDCT:783768006", "medgen:1677653"], "information_content": 100.0}
{"id": "HP:0031080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal response to glucagon stimulation test", "equivalent_identifiers": ["HP:0031080", "UMLS:C4476959"], "information_content": 90.9}
{"id": "HP:0031223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal pancreatic islet hyperplasia", "equivalent_identifiers": ["HP:0031223", "UMLS:C4531266"], "information_content": 100.0}
{"id": "HP:0031224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse pancreatic islet hyperplasia", "equivalent_identifiers": ["HP:0031224", "UMLS:C4531265"], "information_content": 100.0}
{"id": "HP:0040299", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating free fatty acid level", "equivalent_identifiers": ["HP:0040299", "UMLS:C4477037"], "information_content": 100.0}
{"id": "HP:0031408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased proportion of CD25+ mast cells", "equivalent_identifiers": ["HP:0031408", "UMLS:C4531143"], "information_content": 100.0}
{"id": "MONDO:0010908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrodynia", "equivalent_identifiers": ["MONDO:0010908", "DOID:0111702", "OMIM:600628", "orphanet:168", "EFO:1001756", "UMLS:C0406468", "MESH:D058247", "MEDDRA:10085066", "SNOMEDCT:238735005", "medgen:98351", "icd11.foundation:547259783"], "information_content": 90.9}
{"id": "MONDO:0019759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epispadias", "equivalent_identifiers": ["MONDO:0019759", "orphanet:93928", "UMLS:C0014588", "MESH:D004842", "MEDDRA:10015088", "NCIT:C98923", "SNOMEDCT:406476007", "medgen:41839", "icd11.foundation:397402420"], "information_content": 92.8}
{"id": "HP:0006705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal atrioventricular valve morphology", "equivalent_identifiers": ["HP:0006705", "UMLS:C4024995"], "information_content": 69.3}
{"id": "MONDO:0017446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apodia", "equivalent_identifiers": ["MONDO:0017446", "orphanet:294986", "UMLS:C0265624", "MEDDRA:10065338", "SNOMEDCT:1003509004", "SNOMEDCT:371197005", "medgen:488816", "icd11.foundation:1419324219", "HP:0011301"], "information_content": 92.8}
{"id": "HP:0100668", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gut duplication", "equivalent_identifiers": ["HP:0100668", "NCIT:C98960", "UMLS:C0266166", "UMLS:C4020702", "SNOMEDCT:3845008"], "information_content": 95.4}
{"id": "MONDO:0015564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Castleman disease", "equivalent_identifiers": ["MONDO:0015564", "DOID:0111157", "orphanet:160", "EFO:1001332", "UMLS:C0017531", "UMLS:C2931179", "MESH:C536362", "MESH:D005871", "MEDDRA:10050251", "NCIT:C3056", "SNOMEDCT:207036003", "SNOMEDCT:238809002", "SNOMEDCT:781094002", "medgen:42211", "icd11.foundation:1940989685", "ICD10:D47.Z2"], "information_content": 80.6}
{"id": "MONDO:0017932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome", "equivalent_identifiers": ["MONDO:0017932", "orphanet:324416", "UMLS:C4751007", "SNOMEDCT:773584001", "medgen:1665387"], "information_content": 100.0}
{"id": "MONDO:0018629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal stiff limb syndrome", "equivalent_identifiers": ["MONDO:0018629", "orphanet:443804", "UMLS:C4324606", "MEDDRA:10079359", "medgen:1672496"], "information_content": 100.0}
{"id": "HP:0100283", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: continuous motor unit activity at rest", "equivalent_identifiers": ["HP:0100283", "UMLS:C4022170"], "information_content": 100.0}
{"id": "orphanet:93921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Full schwannomatosis", "equivalent_identifiers": ["orphanet:93921"]}
{"id": "HP:0410275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lumbosacral hemangioma", "equivalent_identifiers": ["HP:0410275", "UMLS:C5139444"], "information_content": 100.0}
{"id": "HP:0011750", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neoplasm of the anterior pituitary", "equivalent_identifiers": ["HP:0011750", "UMLS:C4023205"], "information_content": 81.7}
{"id": "orphanet:93926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midline interhemispheric variant of holoprosencephaly", "equivalent_identifiers": ["orphanet:93926"]}
{"id": "MONDO:0020466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosomy X", "equivalent_identifiers": ["MONDO:0020466", "orphanet:99226", "UMLS:C0242526", "SNOMEDCT:710008008", "medgen:116607", "icd11.foundation:95979116"], "information_content": 95.4}
{"id": "HP:0003492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High urinary gonadotropin level", "equivalent_identifiers": ["HP:0003492", "UMLS:C4025606"], "information_content": 100.0}
{"id": "HP:0040072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal forearm bone morphology", "equivalent_identifiers": ["HP:0040072", "UMLS:C4022452"], "information_content": 66.0}
{"id": "HP:0011307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splayed toes", "equivalent_identifiers": ["HP:0011307", "UMLS:C2117390"], "information_content": 100.0}
{"id": "MONDO:0018271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral primitive neuroectodermal tumor", "equivalent_identifiers": ["MONDO:0018271", "orphanet:370348", "UMLS:C0206093", "UMLS:C0684337", "MESH:D018241", "MEDDRA:10056672", "NCIT:C9341", "SNOMEDCT:253096008", "SNOMEDCT:73676002", "medgen:151926", "HP:0030061"], "information_content": 76.5}
{"id": "HP:0030067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peripheral primitive neuroectodermal neoplasm", "equivalent_identifiers": ["HP:0030067", "SNOMEDCT:703707001"], "information_content": 88.2}
{"id": "HP:0031030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated carcinoma antigen 125 level", "equivalent_identifiers": ["HP:0031030", "UMLS:C4476918"], "information_content": 100.0}
{"id": "HP:0100711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thoracic spine morphology", "equivalent_identifiers": ["HP:0100711", "UMLS:C4021989"], "information_content": 80.9}
{"id": "HP:0011932", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal superior cerebellar peduncle morphology", "equivalent_identifiers": ["HP:0011932", "UMLS:C4023120"], "information_content": 89.4}
{"id": "MONDO:0003319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scrotum neoplasm", "equivalent_identifiers": ["MONDO:0003319", "DOID:518", "UMLS:C0341790", "MEDDRA:10039754", "NCIT:C4380", "SNOMEDCT:126905005", "medgen:83328", "ICD10:C63.2", "ICD9:187.7", "HP:0100849"], "information_content": 83.6}
{"id": "MONDO:0020467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic monosomy X", "equivalent_identifiers": ["MONDO:0020467", "orphanet:99228", "UMLS:C4040907", "SNOMEDCT:710010005", "medgen:873772"], "information_content": 100.0}
{"id": "MONDO:0015231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease", "equivalent_identifiers": ["MONDO:0015231", "DOID:445", "OMIM.PS:601678", "orphanet:112", "UMLS:C0004775", "MESH:D001477", "MEDDRA:10050839", "NCIT:C34412", "SNOMEDCT:707742001", "medgen:2172", "icd11.foundation:777233947", "ICD10:E26.81", "ICD9:255.13"], "information_content": 85.5}
{"id": "MONDO:0015229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome", "equivalent_identifiers": ["MONDO:0015229", "DOID:1935", "OMIM.PS:209900", "orphanet:110", "UMLS:C0752166", "MESH:D020788", "MEDDRA:10048680", "MEDDRA:10056715", "NCIT:C118632", "SNOMEDCT:5619004", "medgen:156019", "icd11.foundation:255526264"], "information_content": 79.3}
{"id": "HP:0025691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired fasting glucose", "equivalent_identifiers": ["HP:0025691", "UMLS:C1272092", "MEDDRA:10056997", "SNOMEDCT:390951007"], "information_content": 100.0}
{"id": "HP:0008376", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasal dysarthria", "equivalent_identifiers": ["HP:0008376", "UMLS:C1834664"], "information_content": 100.0}
{"id": "HP:0011026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the vagina", "equivalent_identifiers": ["HP:0011026", "UMLS:C4023586"], "information_content": 87.2}
{"id": "MONDO:0000211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "striatal degeneration, autosomal dominant", "equivalent_identifiers": ["MONDO:0000211", "OMIM.PS:609161", "orphanet:228169", "UMLS:C1836694", "MESH:C563783", "medgen:322971"], "information_content": 92.8}
{"id": "MONDO:0035344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute bilirubin encephalopathy", "equivalent_identifiers": ["MONDO:0035344", "orphanet:529799", "UMLS:C5671282", "SNOMEDCT:1197757006", "medgen:1808922"], "information_content": 100.0}
{"id": "orphanet:109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bannayan-Riley-Ruvalcaba syndrome", "equivalent_identifiers": ["orphanet:109"]}
{"id": "MONDO:0036591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal cortex neoplasm", "equivalent_identifiers": ["MONDO:0036591", "UMLS:C0001618", "MESH:D000306", "NCIT:C2858", "SNOMEDCT:127022002", "medgen:1350", "HP:0100641"], "information_content": 71.4}
{"id": "MONDO:0005661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "babesiosis", "equivalent_identifiers": ["MONDO:0005661", "DOID:9643", "orphanet:108", "EFO:0007162", "UMLS:C0004576", "UMLS:C0276852", "MESH:D001404", "MEDDRA:10003964", "MEDDRA:10003965", "NCIT:C84581", "SNOMEDCT:21061004", "medgen:2523", "icd11.foundation:1947003329", "ICD10:B60.0", "ICD9:088.82"], "information_content": 100.0}
{"id": "MONDO:0019526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema elevatum diutinum", "equivalent_identifiers": ["MONDO:0019526", "DOID:0060567", "orphanet:90000", "UMLS:C0263398", "MESH:C535509", "MEDDRA:10050514", "MEDDRA:10056968", "SNOMEDCT:58872001", "medgen:75517", "icd11.foundation:754210950", "ICD10:L95.1"], "information_content": 100.0}
{"id": "HP:0032036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced contrast sensitivity", "equivalent_identifiers": ["HP:0032036", "UMLS:C4732816"], "information_content": 88.2}
{"id": "MONDO:0007029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchio-oto-renal syndrome", "equivalent_identifiers": ["MONDO:0007029", "DOID:14702", "OMIM.PS:113650", "orphanet:107", "UMLS:C0265234", "MESH:D019280", "MEDDRA:10071135", "MEDDRA:10071142", "NCIT:C98983", "SNOMEDCT:290006", "medgen:82693", "icd11.foundation:504227287"], "information_content": 92.8}
{"id": "HP:0011395", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the cochlea", "equivalent_identifiers": ["HP:0011395", "UMLS:C4023378"], "information_content": 90.9}
{"id": "HP:0040106", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lateral semicircular canal morphology", "equivalent_identifiers": ["HP:0040106", "UMLS:C4021034"], "information_content": 100.0}
{"id": "MONDO:0019527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "undifferentiated connective tissue syndrome", "equivalent_identifiers": ["MONDO:0019527", "orphanet:90002", "UMLS:C0409999", "MESH:D000074079", "MEDDRA:10071575", "NCIT:C116776", "SNOMEDCT:239918008", "medgen:592754"], "information_content": 100.0}
{"id": "MONDO:0019528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory pseudotumor of the liver", "equivalent_identifiers": ["MONDO:0019528", "orphanet:90003"], "information_content": 100.0}
{"id": "HP:0031140", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal liver sonography", "equivalent_identifiers": ["HP:0031140", "UMLS:C4476999"], "information_content": 88.2}
{"id": "HP:0410369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased hepatitis B virus antibody level", "equivalent_identifiers": ["HP:0410369", "UMLS:C5209298"], "information_content": 100.0}
{"id": "HP:0010867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyssynergia", "equivalent_identifiers": ["HP:0010867", "NCIT:C26702", "UMLS:C0004134", "UMLS:C0231527", "MEDDRA:10003591", "MEDDRA:10028359", "SNOMEDCT:20262006", "SNOMEDCT:39384006", "MESH:D001259"], "information_content": 77.3}
{"id": "MONDO:0007803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple system atrophy", "equivalent_identifiers": ["MONDO:0007803", "DOID:4752", "orphanet:102", "EFO:1001050", "UMLS:C0037019", "UMLS:C0393571", "MESH:D012791", "MESH:D019578", "MEDDRA:10003836", "MEDDRA:10036799", "MEDDRA:10040623", "MEDDRA:10064060", "NCIT:C84909", "SNOMEDCT:230297002", "medgen:98276", "icd11.foundation:1890931931"], "information_content": 83.6}
{"id": "MONDO:0004258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female orgasmic disorder", "equivalent_identifiers": ["MONDO:0004258", "DOID:7518", "UMLS:C0033948", "UMLS:C4022677", "MEDDRA:10016405", "MEDDRA:10022032", "NCIT:C34958", "SNOMEDCT:60103007", "medgen:892329", "ICD10:F52.31", "ICD9:302.73", "HP:0030015"], "information_content": 100.0}
{"id": "HP:0003117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating hormone concentration", "equivalent_identifiers": ["HP:0003117", "UMLS:C4025652"], "information_content": 61.5}
{"id": "MONDO:0012330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "talo-patello-scaphoid osteolysis", "equivalent_identifiers": ["MONDO:0012330", "OMIM:609655", "orphanet:50809", "UMLS:C1864784", "MESH:C536894", "medgen:400611", "icd11.foundation:1276091756"], "information_content": 100.0}
{"id": "HP:0006202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolysis of scaphoids", "equivalent_identifiers": ["HP:0006202", "UMLS:C4025082"], "information_content": 100.0}
{"id": "HP:0006378", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolysis of patellae", "equivalent_identifiers": ["HP:0006378", "UMLS:C4025051"], "information_content": 100.0}
{"id": "HP:0008095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolysis of talus", "equivalent_identifiers": ["HP:0008095", "UMLS:C4021556"], "information_content": 100.0}
{"id": "HP:0012705", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metabolic brain imaging by MRS", "equivalent_identifiers": ["HP:0012705", "UMLS:C4022764"], "information_content": 78.5}
{"id": "MONDO:0015274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "berylliosis", "equivalent_identifiers": ["MONDO:0015274", "DOID:10322", "orphanet:133", "EFO:0007168", "UMLS:C0005138", "UMLS:C0221052", "MESH:D001607", "MEDDRA:10004485", "NCIT:C197848", "SNOMEDCT:18121009", "SNOMEDCT:8247009", "medgen:67440", "icd11.foundation:212013370", "ICD10:J63.2"], "information_content": 100.0}
{"id": "HP:0025393", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reticulonodular pattern on pulmonary HRCT", "equivalent_identifiers": ["HP:0025393", "UMLS:C4476751"], "information_content": 100.0}
{"id": "MONDO:0017230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal semi-dominant severe lipodystrophic laminopathy", "equivalent_identifiers": ["MONDO:0017230", "orphanet:280365", "UMLS:C5680783", "SNOMEDCT:1197747005", "medgen:1808090"], "information_content": 100.0}
{"id": "HP:0040266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal upper limb muscle hypertrophy", "equivalent_identifiers": ["HP:0040266", "UMLS:C4280686"], "information_content": 100.0}
{"id": "HP:0010992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stress urinary incontinence", "equivalent_identifiers": ["HP:0010992", "UMLS:C0042025", "MEDDRA:10042213", "MEDDRA:10066218", "SNOMEDCT:22220005", "MESH:D014550"], "information_content": 100.0}
{"id": "MONDO:0800448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with vanishing white matter", "equivalent_identifiers": ["MONDO:0800448", "DOID:0060868", "OMIM.PS:603896", "orphanet:135", "UMLS:C1858991", "NCIT:C122664", "SNOMEDCT:447351004", "medgen:347037"], "information_content": 84.8}
{"id": "MONDO:0015263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome", "equivalent_identifiers": ["MONDO:0015263", "DOID:0050451", "OMIM.PS:601144", "orphanet:130", "UMLS:C1142166", "UMLS:C1721096", "MESH:D053840", "MEDDRA:10059027", "NCIT:C142891", "SNOMEDCT:418818005", "medgen:222975", "icd11.foundation:1250136584", "ICD10:I49.8"], "information_content": 84.8}
{"id": "HP:0011715", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trifascicular block", "equivalent_identifiers": ["HP:0011715", "UMLS:C0155707", "MEDDRA:10044644", "SNOMEDCT:86014007"], "information_content": 100.0}
{"id": "HP:0033045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bipedal edema", "equivalent_identifiers": ["HP:0033045", "UMLS:C5421569"], "information_content": 100.0}
{"id": "orphanet:564178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome", "equivalent_identifiers": ["orphanet:564178"]}
{"id": "HP:0012726", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Episodic hypokalemia", "equivalent_identifiers": ["HP:0012726", "UMLS:C4022754"], "information_content": 100.0}
{"id": "MONDO:0017584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sagliker syndrome", "equivalent_identifiers": ["MONDO:0017584", "orphanet:300493", "UMLS:C5681093", "SNOMEDCT:1208934006", "medgen:1808631"], "information_content": 100.0}
{"id": "MONDO:0015261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudopelade", "equivalent_identifiers": ["MONDO:0015261", "orphanet:129", "EFO:1002028", "UMLS:C0086873", "UMLS:C2936846", "MEDDRA:10001764", "MEDDRA:10083950", "SNOMEDCT:238731001", "SNOMEDCT:400088006", "medgen:88640", "ICD10:L66"], "information_content": 100.0}
{"id": "HP:0020105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe toxoplasmosis", "equivalent_identifiers": ["HP:0020105", "UMLS:C5139081"], "information_content": 100.0}
{"id": "HP:0001227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the thenar eminence", "equivalent_identifiers": ["HP:0001227", "UMLS:C4021783"], "information_content": 95.4}
{"id": "HP:0020118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Radial artery aplasia", "equivalent_identifiers": ["HP:0020118", "UMLS:C5209221", "SNOMEDCT:1145400000"], "information_content": 100.0}
{"id": "MONDO:0018685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "incessant infant ventricular tachycardia", "equivalent_identifiers": ["MONDO:0018685", "orphanet:45453", "UMLS:C0340487", "SNOMEDCT:233908008", "medgen:573762", "icd11.foundation:1364925734"], "information_content": 100.0}
{"id": "MONDO:0018376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary non-traumatic avascular necrosis", "equivalent_identifiers": ["MONDO:0018376", "orphanet:399180", "UMLS:C5192430", "SNOMEDCT:787092009", "medgen:1684106"], "information_content": 100.0}
{"id": "MONDO:0018684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic neonatal atrial flutter", "equivalent_identifiers": ["MONDO:0018684", "orphanet:45452", "UMLS:C4275090", "SNOMEDCT:715560009", "medgen:904097", "icd11.foundation:208964573"], "information_content": 100.0}
{"id": "MONDO:0018856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lichen amyloidosis", "equivalent_identifiers": ["MONDO:0018856", "orphanet:49804", "UMLS:C5779561", "MEDDRA:10011659", "MEDDRA:10024427", "SNOMEDCT:718105008", "medgen:1830282"], "information_content": 100.0}
{"id": "MONDO:0009685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miyoshi myopathy", "equivalent_identifiers": ["MONDO:0009685", "DOID:0070198", "OMIM.PS:254130", "orphanet:45448", "UMLS:C5553104", "MESH:C537480", "NCIT:C118846", "medgen:1790866"], "information_content": 90.9}
{"id": "MONDO:0018059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningococcal meningitis", "equivalent_identifiers": ["MONDO:0018059", "DOID:0080176", "orphanet:33475", "EFO:1001040", "UMLS:C0007813", "UMLS:C0025294", "MESH:D008585", "MEDDRA:10027249", "MEDDRA:10027276", "MEDDRA:10028910", "SNOMEDCT:192644005", "medgen:6299", "icd11.foundation:516585689", "ICD10:A39.0", "ICD9:036.0"], "information_content": 100.0}
{"id": "HP:0000236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal anterior fontanelle morphology", "equivalent_identifiers": ["HP:0000236", "UMLS:C4025875"], "information_content": 84.8}
{"id": "HP:0011880", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute disseminated intravascular coagulation", "equivalent_identifiers": ["HP:0011880", "UMLS:C4023149"], "information_content": 100.0}
{"id": "orphanet:116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beckwith-Wiedemann syndrome", "equivalent_identifiers": ["orphanet:116"]}
{"id": "HP:0011417", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Long umbilical cord", "equivalent_identifiers": ["HP:0011417", "UMLS:C0266787", "UMLS:C0405028", "SNOMEDCT:237261008"], "information_content": 100.0}
{"id": "HP:0030720", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subchorionic septal cyst", "equivalent_identifiers": ["HP:0030720", "UMLS:C4280801"], "information_content": 100.0}
{"id": "MONDO:0005058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leiomyosarcoma", "equivalent_identifiers": ["MONDO:0005058", "DOID:1967", "orphanet:64720", "EFO:0000564", "UMLS:C0023269", "MESH:D007890", "MEDDRA:10024189", "MEDDRA:10024190", "MEDDRA:10024193", "NCIT:C3158", "SNOMEDCT:1163022006", "SNOMEDCT:443719001", "SNOMEDCT:51549004", "medgen:9711", "HP:0100243"], "information_content": 69.5}
{"id": "MONDO:0016673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "localized junctional epidermolysis bullosa, non-Herlitz type", "equivalent_identifiers": ["MONDO:0016673", "orphanet:251393", "UMLS:C5700116", "SNOMEDCT:1254890002", "medgen:1814511"], "information_content": 100.0}
{"id": "HP:0032156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin detachment", "equivalent_identifiers": ["HP:0032156", "NCIT:C112110", "UMLS:C4759673", "MEDDRA:10041041"], "information_content": 100.0}
{"id": "MONDO:0006662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aseptic meningitis", "equivalent_identifiers": ["MONDO:0006662", "DOID:12157", "EFO:1000823", "UMLS:C0025290", "MESH:D008582", "MEDDRA:10003458", "MEDDRA:10027201", "NCIT:C118299", "SNOMEDCT:301770000", "medgen:7534", "icd11.foundation:453360366", "ICD10:G03.0", "HP:0033430"], "information_content": 90.9}
{"id": "HP:0025532", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive pathergy test", "equivalent_identifiers": ["HP:0025532", "UMLS:C4476836"], "information_content": 100.0}
{"id": "MONDO:0017232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome", "equivalent_identifiers": ["MONDO:0017232", "orphanet:280384", "UMLS:C4749580", "SNOMEDCT:770901001", "medgen:1659846"], "information_content": 100.0}
{"id": "HP:0011921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exudative pleural effusion", "equivalent_identifiers": ["HP:0011921", "UMLS:C3887491", "SNOMEDCT:13841000119107"], "information_content": 100.0}
{"id": "HP:0010460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the female genitalia", "equivalent_identifiers": ["HP:0010460", "UMLS:C4023820"], "information_content": 56.8}
{"id": "HP:0025637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vasospasm", "equivalent_identifiers": ["HP:0025637", "UMLS:C0085616", "MEDDRA:10002483", "MEDDRA:10047163", "MEDDRA:10070702", "SNOMEDCT:71772004"], "information_content": 100.0}
{"id": "HP:0032161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coccidioidal meningitis", "equivalent_identifiers": ["HP:0032161", "UMLS:C0153259", "MEDDRA:10009823", "MEDDRA:10027207", "SNOMEDCT:46303000", "MESH:D000098525"], "information_content": 100.0}
{"id": "MONDO:0019896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome due to 9q34 microdeletion", "equivalent_identifiers": ["MONDO:0019896", "orphanet:96147"], "information_content": 100.0}
{"id": "MONDO:0019897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 12q", "equivalent_identifiers": ["MONDO:0019897", "orphanet:96149", "UMLS:C5438460", "SNOMEDCT:897564008", "medgen:1761314"], "information_content": 100.0}
{"id": "HP:0009437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the middle phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009437", "UMLS:C4024361"], "information_content": 92.8}
{"id": "HP:0011407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proportionate tall stature", "equivalent_identifiers": ["HP:0011407", "UMLS:C4023371"], "information_content": 100.0}
{"id": "MONDO:0016672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "equivalent_identifiers": ["MONDO:0016672", "orphanet:251380", "UMLS:C5190890", "SNOMEDCT:783254003", "medgen:1679967"], "information_content": 100.0}
{"id": "HP:0045047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HbS hemoglobin", "equivalent_identifiers": ["HP:0045047", "UMLS:C0019043", "UMLS:C4282073", "SNOMEDCT:50095005"], "information_content": 100.0}
{"id": "MONDO:0017233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial Alzheimer-like prion disease", "equivalent_identifiers": ["MONDO:0017233", "orphanet:280397", "UMLS:C4303482", "SNOMEDCT:721219005", "medgen:929151", "icd11.foundation:1297025427"], "information_content": 100.0}
{"id": "MONDO:0019522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive dystrophic epidermolysis bullosa-generalized other", "equivalent_identifiers": ["MONDO:0019522", "orphanet:89842", "UMLS:C4511044", "SNOMEDCT:725407006", "medgen:1392226"], "information_content": 100.0}
{"id": "HP:0100886", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of globe location", "equivalent_identifiers": ["HP:0100886", "UMLS:C4021946"], "information_content": 80.6}
{"id": "HP:0100781", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sacroiliac joint morphology", "equivalent_identifiers": ["HP:0100781", "UMLS:C0262621"], "information_content": 89.4}
{"id": "MONDO:0020304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isochromosomy Yp", "equivalent_identifiers": ["MONDO:0020304", "orphanet:98797", "UMLS:C4707793", "SNOMEDCT:766708008", "medgen:1640451"], "information_content": 100.0}
{"id": "MONDO:0020305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isochromosomy Yq", "equivalent_identifiers": ["MONDO:0020305", "orphanet:98798", "UMLS:C4749291", "SNOMEDCT:770542008", "medgen:1665766"], "information_content": 100.0}
{"id": "MONDO:0020301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome due to paternal 15q11q13 deletion", "equivalent_identifiers": ["MONDO:0020301", "orphanet:98793", "UMLS:C5681699", "medgen:1826129"], "information_content": 92.8}
{"id": "MONDO:0020302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angelman syndrome due to maternal 15q11q13 deletion", "equivalent_identifiers": ["MONDO:0020302", "orphanet:98794", "UMLS:C5566334", "SNOMEDCT:1162462009", "medgen:1797757"], "information_content": 100.0}
{"id": "HP:0010505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limitation of movement at ankles", "equivalent_identifiers": ["HP:0010505", "UMLS:C4023800"], "information_content": 95.4}
{"id": "MONDO:0020303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angelman syndrome due to paternal uniparental disomy of chromosome 15", "equivalent_identifiers": ["MONDO:0020303", "orphanet:98795", "UMLS:C5680342", "medgen:1826078"], "information_content": 100.0}
{"id": "MONDO:0007716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha thalassemia-intellectual disability syndrome type 1", "equivalent_identifiers": ["MONDO:0007716", "DOID:0110029", "OMIM:141750", "orphanet:98791", "UMLS:C0795917", "MESH:C563050", "MEDDRA:10083965", "SNOMEDCT:277918006", "SNOMEDCT:734349003", "medgen:162892", "ICD10:D56.0"], "information_content": 100.0}
{"id": "MONDO:0012580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary pulmonary alveolar proteinosis", "equivalent_identifiers": ["MONDO:0012580", "OMIM.PS:265120", "orphanet:264675", "UMLS:C2931035", "UMLS:C3711368", "MESH:C535832", "MESH:C580477", "SNOMEDCT:328641000119109", "SNOMEDCT:707442002", "medgen:777976"], "information_content": 85.5}
{"id": "HP:0010876", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating protein concentration", "equivalent_identifiers": ["HP:0010876", "UMLS:C4020763", "UMLS:C4020764", "UMLS:C4023679"], "information_content": 58.6}
{"id": "HP:0031029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating carcinoembryonic antigen concentration", "equivalent_identifiers": ["HP:0031029", "UMLS:C4476917"], "information_content": 100.0}
{"id": "MONDO:0019891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosomy 22", "equivalent_identifiers": ["MONDO:0019891", "orphanet:96123", "UMLS:C0795878", "SNOMEDCT:787411009", "medgen:208644"], "information_content": 95.4}
{"id": "HP:0000606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the periorbital region", "equivalent_identifiers": ["HP:0000606", "UMLS:C4025837"], "information_content": 78.0}
{"id": "HP:0010785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gonadal neoplasm", "equivalent_identifiers": ["HP:0010785", "UMLS:C4021228"], "information_content": 74.9}
{"id": "MONDO:0019893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 19p13.3", "equivalent_identifiers": ["MONDO:0019893", "orphanet:96129", "UMLS:C4749277", "SNOMEDCT:770411000", "medgen:1665859"], "information_content": 100.0}
{"id": "MONDO:0020300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nocturnal frontal lobe epilepsy", "equivalent_identifiers": ["MONDO:0020300", "DOID:0060681", "orphanet:98784", "UMLS:C3696898", "MESH:C579932", "SNOMEDCT:698021005", "medgen:777188", "icd11.foundation:1004734747"], "information_content": 88.2}
{"id": "HP:0011174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal hyperkinetic seizure", "equivalent_identifiers": ["HP:0011174", "UMLS:C4023497", "SNOMEDCT:1269371001"], "information_content": 92.8}
{"id": "HP:0025235", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NREM parasomnia", "equivalent_identifiers": ["HP:0025235", "UMLS:C4476680"], "information_content": 89.4}
{"id": "HP:0009929", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal columella morphology", "equivalent_identifiers": ["HP:0009929", "UMLS:C4024158"], "information_content": 87.2}
{"id": "HP:0008655", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the fallopian tube", "equivalent_identifiers": ["HP:0008655", "UMLS:C4020791", "UMLS:C4024646"], "information_content": 90.9}
{"id": "MONDO:0016425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hughes-Stovin syndrome", "equivalent_identifiers": ["MONDO:0016425", "orphanet:228116", "UMLS:C4303478", "SNOMEDCT:721226005", "medgen:929147", "icd11.foundation:1047123748"], "information_content": 100.0}
{"id": "MONDO:0016426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fusariosis", "equivalent_identifiers": ["MONDO:0016426", "DOID:0050289", "orphanet:228119", "EFO:1001795", "UMLS:C0276758", "MESH:D060585", "MEDDRA:10051919", "MEDDRA:10089361", "SNOMEDCT:64250002", "medgen:452375", "icd11.foundation:565900954"], "information_content": 100.0}
{"id": "HP:0020153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive blood 1,3 beta glucan test", "equivalent_identifiers": ["HP:0020153", "UMLS:C5209247"], "information_content": 100.0}
{"id": "HP:0011356", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Regional abnormality of skin", "equivalent_identifiers": ["HP:0011356", "UMLS:C4023402"], "information_content": 70.2}
{"id": "MONDO:0008741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PAGOD syndrome", "equivalent_identifiers": ["MONDO:0008741", "OMIM:202660", "orphanet:991", "UMLS:C1859967", "MESH:C537018", "SNOMEDCT:722132007", "medgen:347985"], "information_content": 100.0}
{"id": "HP:0100596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent nares", "equivalent_identifiers": ["HP:0100596", "UMLS:C4020707", "UMLS:C4020963"], "information_content": 95.4}
{"id": "MONDO:0019921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal uniparental disomy of chromosome 6", "equivalent_identifiers": ["MONDO:0019921", "orphanet:96191", "UMLS:C4749378", "SNOMEDCT:770670003", "medgen:1662050", "icd11.foundation:1267556610"], "information_content": 100.0}
{"id": "MONDO:0019920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal uniparental disomy of chromosome 5", "equivalent_identifiers": ["MONDO:0019920", "orphanet:96190", "UMLS:C4749377", "SNOMEDCT:770669004", "medgen:1652849", "icd11.foundation:1224981751"], "information_content": 100.0}
{"id": "HP:0010593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fibular epiphysis morphology", "equivalent_identifiers": ["HP:0010593", "UMLS:C4023780"], "information_content": 88.2}
{"id": "MONDO:0016509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome", "equivalent_identifiers": ["MONDO:0016509", "orphanet:231736", "UMLS:C4751163", "SNOMEDCT:773690008", "medgen:1667341"], "information_content": 100.0}
{"id": "MONDO:0006558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pemphigoid gestationis", "equivalent_identifiers": ["MONDO:0006558", "DOID:0040098", "DOID:14482", "orphanet:63275", "EFO:1000709", "UMLS:C0019343", "MESH:D006559", "MEDDRA:10019939", "MEDDRA:10052801", "NCIT:C85003", "SNOMEDCT:86081009", "medgen:9233", "icd11.foundation:1405755890", "ICD10:O26.4"], "information_content": 100.0}
{"id": "HP:0100953", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged interhemispheric fissure", "equivalent_identifiers": ["HP:0100953", "UMLS:C4020920"], "information_content": 100.0}
{"id": "orphanet:75249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial isolated restrictive cardiomyopathy", "equivalent_identifiers": ["orphanet:75249"]}
{"id": "MONDO:0011501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia", "equivalent_identifiers": ["MONDO:0011501", "OMIM:604922", "orphanet:166277", "UMLS:C1858032", "MESH:C565734", "medgen:387969"], "information_content": 100.0}
{"id": "MONDO:0020048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "internal carotid agenesis", "equivalent_identifiers": ["MONDO:0020048", "orphanet:981", "UMLS:C4302907", "SNOMEDCT:722004001", "medgen:928576", "icd11.foundation:368564890"], "information_content": 100.0}
{"id": "MONDO:0019915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 14", "equivalent_identifiers": ["MONDO:0019915", "orphanet:96184", "UMLS:C5680248", "medgen:1841563", "icd11.foundation:171193570"], "information_content": 100.0}
{"id": "MONDO:0019914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 9", "equivalent_identifiers": ["MONDO:0019914", "orphanet:96183", "UMLS:C4707721", "SNOMEDCT:766240006", "medgen:1634619", "icd11.foundation:102102686"], "information_content": 100.0}
{"id": "HP:0040045", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hemidiaphragm morphology", "equivalent_identifiers": ["HP:0040045", "UMLS:C4022472"], "information_content": 88.2}
{"id": "HP:0000022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal male internal genitalia morphology", "equivalent_identifiers": ["HP:0000022", "UMLS:C4025899", "UMLS:C5706136"], "information_content": 63.4}
{"id": "HP:0010468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the testes", "equivalent_identifiers": ["HP:0010468", "UMLS:C4023817"], "information_content": 82.1}
{"id": "MONDO:0018914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis simplex", "equivalent_identifiers": ["MONDO:0018914", "orphanet:55654", "UMLS:C1854310", "MESH:C537160", "SNOMEDCT:723362004", "medgen:344257"], "information_content": 85.5}
{"id": "MONDO:0019913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7", "equivalent_identifiers": ["MONDO:0019913", "orphanet:96182", "UMLS:C5680247", "medgen:1826074"], "information_content": 100.0}
{"id": "HP:0003944", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow joint spaces of the elbow", "equivalent_identifiers": ["HP:0003944", "UMLS:C4025490"], "information_content": 100.0}
{"id": "MONDO:0019912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 6", "equivalent_identifiers": ["MONDO:0019912", "orphanet:96181", "UMLS:C4707720", "SNOMEDCT:766239009", "medgen:1638411", "icd11.foundation:423779048"], "information_content": 100.0}
{"id": "MONDO:0019911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 4", "equivalent_identifiers": ["MONDO:0019911", "orphanet:96180", "UMLS:C4707719", "SNOMEDCT:766238001", "medgen:1644554", "icd11.foundation:358848660"], "information_content": 100.0}
{"id": "MONDO:0010288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenomyodystrophy", "equivalent_identifiers": ["MONDO:0010288", "OMIM:300270", "orphanet:977", "UMLS:C1846044", "MESH:C538051", "SNOMEDCT:763311001", "medgen:337494", "icd11.foundation:46666832"], "information_content": 100.0}
{"id": "MONDO:0019910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 2", "equivalent_identifiers": ["MONDO:0019910", "orphanet:96179", "UMLS:C4707718", "SNOMEDCT:766237006", "medgen:1631626", "icd11.foundation:2067230711"], "information_content": 100.0}
{"id": "HP:0004880", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Respiratory infections in early life", "equivalent_identifiers": ["HP:0004880", "UMLS:C4025280"], "information_content": 100.0}
{"id": "MONDO:0007034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome", "equivalent_identifiers": ["MONDO:0007034", "DOID:0060227", "OMIM.PS:100300", "orphanet:974", "UMLS:C0265268", "MESH:C538225", "MEDDRA:10079369", "SNOMEDCT:34748004", "medgen:78544", "icd11.foundation:745972142"], "information_content": 87.2}
{"id": "HP:0009988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of the distal phalanx of the 5th finger", "equivalent_identifiers": ["HP:0009988", "UMLS:C4021353"], "information_content": 92.8}
{"id": "MONDO:0019907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome 13", "equivalent_identifiers": ["MONDO:0019907", "orphanet:96176", "UMLS:C0795847", "UMLS:C2931808", "MESH:C538303", "NCIT:C179703", "SNOMEDCT:726723004", "medgen:444146"], "information_content": 100.0}
{"id": "HP:0005927", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia involving bones of the hand", "equivalent_identifiers": ["HP:0005927", "UMLS:C4021612"], "information_content": 67.3}
{"id": "HP:0000676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the incisor", "equivalent_identifiers": ["HP:0000676", "UMLS:C4025833"], "information_content": 71.6}
{"id": "HP:0030032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of foot", "equivalent_identifiers": ["HP:0030032", "UMLS:C4022666"], "information_content": 100.0}
{"id": "MONDO:0044332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood-onset benign chorea with striatal involvement", "equivalent_identifiers": ["MONDO:0044332", "orphanet:494541", "UMLS:C5567463", "SNOMEDCT:1172602000", "medgen:1798886"], "information_content": 100.0}
{"id": "MONDO:0044643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0044643", "orphanet:495875", "UMLS:C5567455", "SNOMEDCT:1172594000", "medgen:1798878"], "information_content": 100.0}
{"id": "MONDO:0958122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic small fibers neuropathy", "equivalent_identifiers": ["MONDO:0958122", "orphanet:658549", "UMLS:C5925111", "medgen:1863834"], "information_content": 100.0}
{"id": "MONDO:0018607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined hamartoma of the retina and retinal pigment epithelium", "equivalent_identifiers": ["MONDO:0018607", "orphanet:440727", "UMLS:C1862062", "NCIT:C174548", "SNOMEDCT:1229998009", "medgen:396281", "HP:0030510"], "information_content": 100.0}
{"id": "MONDO:0019902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosomy 13q34", "equivalent_identifiers": ["MONDO:0019902", "orphanet:96168", "UMLS:C4707797", "SNOMEDCT:766716004", "medgen:1631901"], "information_content": 100.0}
{"id": "MONDO:0018968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iniencephaly", "equivalent_identifiers": ["MONDO:0018968", "orphanet:63259", "UMLS:C0152234", "MEDDRA:10022034", "NCIT:C124549", "SNOMEDCT:2438005", "medgen:57756", "icd11.foundation:1558931335", "HP:0034205"], "information_content": 92.8}
{"id": "HP:0012287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypothalamic luteinizing hormone-releasing hormone deficiency", "equivalent_identifiers": ["HP:0012287", "UMLS:C4022967"], "information_content": 100.0}
{"id": "MONDO:0017160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "behavioral variant of frontotemporal dementia", "equivalent_identifiers": ["MONDO:0017160", "orphanet:275864", "UMLS:C4011788", "SNOMEDCT:716994006", "medgen:860225"], "information_content": 89.4}
{"id": "HP:0011204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with continuous slow activity", "equivalent_identifiers": ["HP:0011204", "UMLS:C4023470"], "information_content": 100.0}
{"id": "MONDO:0018371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nebulin-related early-onset distal myopathy", "equivalent_identifiers": ["MONDO:0018371", "orphanet:399103", "UMLS:C5190827", "SNOMEDCT:783148005", "medgen:1677937"], "information_content": 100.0}
{"id": "MONDO:0018969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniorachischisis", "equivalent_identifiers": ["MONDO:0018969", "orphanet:63260", "UMLS:C0152426", "MEDDRA:10011321", "NCIT:C98907", "SNOMEDCT:32219008", "medgen:56290", "icd11.foundation:675690362", "HP:0030770"], "information_content": 100.0}
{"id": "HP:0005857", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical spina bifida", "equivalent_identifiers": ["HP:0005857", "UMLS:C0266501", "SNOMEDCT:32232003"], "information_content": 100.0}
{"id": "HP:0010846", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with persistent abnormal rhythmic activity", "equivalent_identifiers": ["HP:0010846", "UMLS:C4021216"], "information_content": 100.0}
{"id": "HP:0010542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vestibular nystagmus", "equivalent_identifiers": ["HP:0010542", "UMLS:C0155379", "MEDDRA:10068101", "SNOMEDCT:46888001"], "information_content": 100.0}
{"id": "MONDO:0019434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Still Disease", "equivalent_identifiers": ["MONDO:0019434", "orphanet:85414", "EFO:1001999", "UMLS:C0087031", "UMLS:C1384600", "UMLS:C1858558", "MESH:C565798", "MEDDRA:10042061", "MEDDRA:10073160", "MEDDRA:10079453", "MEDDRA:10079454", "NCIT:C119031", "NCIT:C61278", "SNOMEDCT:201796004", "medgen:346934", "icd11.foundation:504387587"], "information_content": 90.9}
{"id": "orphanet:261584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5q22 microdeletion syndrome", "equivalent_identifiers": ["orphanet:261584"]}
{"id": "MONDO:0019433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligoarticular juvenile idiopathic arthritis", "equivalent_identifiers": ["MONDO:0019433", "orphanet:85410", "EFO:1002019", "UMLS:C2931171", "MESH:C536312", "NCIT:C119032", "SNOMEDCT:410798004", "medgen:443993", "icd11.foundation:1990556904"], "information_content": 92.8}
{"id": "MONDO:0018002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy", "equivalent_identifiers": ["MONDO:0018002", "orphanet:329336", "UMLS:C4511138", "SNOMEDCT:725464001", "medgen:1393682"], "information_content": 95.4}
{"id": "orphanet:137634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Overgrowth-macrocephaly-facial dysmorphism syndrome", "equivalent_identifiers": ["orphanet:137634"]}
{"id": "HP:0012348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased galactosylation of N-linked protein glycosylation", "equivalent_identifiers": ["HP:0012348", "UMLS:C4022943"], "information_content": 100.0}
{"id": "MONDO:0015595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posttransplant acute limbic encephalitis", "equivalent_identifiers": ["MONDO:0015595", "orphanet:163921", "UMLS:C4750744", "SNOMEDCT:773275000", "medgen:1657779"], "information_content": 100.0}
{"id": "HP:0012756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CSF polymorphonuclear pleocytosis", "equivalent_identifiers": ["HP:0012756", "UMLS:C4022740"], "information_content": 100.0}
{"id": "HP:0031885", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperglycorrhachia", "equivalent_identifiers": ["HP:0031885", "UMLS:C0428553", "MEDDRA:10050763", "MEDDRA:10068920", "SNOMEDCT:167741009"], "information_content": 100.0}
{"id": "MONDO:0017161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia with motor neuron disease", "equivalent_identifiers": ["MONDO:0017161", "OMIM.PS:105550", "orphanet:275872", "UMLS:C3888102", "MESH:C566288", "SNOMEDCT:1259124000", "medgen:854771", "icd11.foundation:1171850356"], "information_content": 86.3}
{"id": "MONDO:0017607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "caudal regression sequence", "equivalent_identifiers": ["MONDO:0017607", "DOID:0080700", "orphanet:3027", "UMLS:C0300948", "UMLS:C4086146", "MEDDRA:10059387", "NCIT:C124505", "SNOMEDCT:8301004", "medgen:81254", "icd11.foundation:269997265"], "information_content": 100.0}
{"id": "HP:0011911", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metacarpophalangeal joint morphology", "equivalent_identifiers": ["HP:0011911", "UMLS:C4023132"], "information_content": 82.6}
{"id": "HP:0005892", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal tibial and fibular fusion", "equivalent_identifiers": ["HP:0005892", "UMLS:C4025113"], "information_content": 100.0}
{"id": "HP:0040253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased size of the clitoris", "equivalent_identifiers": ["HP:0040253", "UMLS:C4280695"], "information_content": 92.8}
{"id": "HP:0031187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating pregnenolone concentration", "equivalent_identifiers": ["HP:0031187", "UMLS:C4477026"], "information_content": 95.4}
{"id": "HP:0031083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal response to human chorionic gonadotrophin stimulation test", "equivalent_identifiers": ["HP:0031083", "UMLS:C4476962"], "information_content": 100.0}
{"id": "HP:0005913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metacarpal epiphysis morphology", "equivalent_identifiers": ["HP:0005913", "UMLS:C4025110"], "information_content": 76.5}
{"id": "HP:0011403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal umbilical cord blood vessel morphology", "equivalent_identifiers": ["HP:0011403", "UMLS:C4023372"], "information_content": 84.2}
{"id": "HP:0000927", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of skeletal maturation", "equivalent_identifiers": ["HP:0000927", "UMLS:C4025818"], "information_content": 84.8}
{"id": "HP:0031065", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ovarian morphology", "equivalent_identifiers": ["HP:0031065", "UMLS:C4476944"], "information_content": 77.6}
{"id": "MONDO:0019432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rheumatoid factor-negative juvenile idiopathic arthritis", "equivalent_identifiers": ["MONDO:0019432", "orphanet:85408", "EFO:1002020", "UMLS:C3890205", "NCIT:C119033", "SNOMEDCT:410797009", "medgen:855549"], "information_content": 92.8}
{"id": "MONDO:0013396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1p32-p31 deletion syndrome", "equivalent_identifiers": ["MONDO:0013396", "DOID:0060409", "orphanet:401986", "UMLS:C2930944", "UMLS:C4707828", "MESH:C535594", "SNOMEDCT:766766005", "medgen:1636078"], "information_content": 100.0}
{"id": "HP:0012113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating creatine concentration", "equivalent_identifiers": ["HP:0012113", "UMLS:C4020731"], "information_content": 88.2}
{"id": "MONDO:0010816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Qazi Markouizos syndrome", "equivalent_identifiers": ["MONDO:0010816", "DOID:0050740", "OMIM:600096", "orphanet:3010", "UMLS:C2931142", "MESH:C536259", "SNOMEDCT:721887007", "medgen:443987"], "information_content": 100.0}
{"id": "MONDO:0017640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cyanide-induced parkinsonism", "equivalent_identifiers": ["MONDO:0017640", "orphanet:306692", "UMLS:C4707859", "SNOMEDCT:766872002", "medgen:1639789", "icd11.foundation:1717111858"], "information_content": 100.0}
{"id": "MONDO:0018126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy with dystonia", "equivalent_identifiers": ["MONDO:0018126", "orphanet:352596", "UMLS:C4706413", "SNOMEDCT:763349002", "medgen:1642042"], "information_content": 100.0}
{"id": "MONDO:0044641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "9q33.3q34.11 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0044641", "orphanet:495818", "UMLS:C5680085", "SNOMEDCT:1228886008", "medgen:1811810"], "information_content": 100.0}
{"id": "MONDO:0015599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atopic keratoconjunctivitis", "equivalent_identifiers": ["MONDO:0015599", "orphanet:163934", "UMLS:C1274788", "MEDDRA:10069664", "SNOMEDCT:403434009", "medgen:698110", "icd11.foundation:1941631830"], "information_content": 100.0}
{"id": "MONDO:0010051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010051", "OMIM:270950", "orphanet:3011", "UMLS:C1849112", "MESH:C564808", "medgen:376519"], "information_content": 100.0}
{"id": "MONDO:0016596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0016596", "DOID:0070431", "OMIM.PS:239300", "orphanet:247262", "UMLS:C1855923", "MESH:C565495", "SNOMEDCT:33982008", "medgen:383800"], "information_content": 87.2}
{"id": "MONDO:0017638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "manganese poisoning", "equivalent_identifiers": ["MONDO:0017638", "orphanet:306682", "EFO:1001808", "UMLS:C0238263", "UMLS:C0677050", "MESH:D020149", "MEDDRA:10058951", "SNOMEDCT:447288004", "SNOMEDCT:88687001"], "information_content": 100.0}
{"id": "HP:0025464", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased reactive oxygen species production", "equivalent_identifiers": ["HP:0025464", "UMLS:C0242606", "UMLS:C4476796", "MEDDRA:10080562", "MESH:D018384"], "information_content": 100.0}
{"id": "MONDO:0017639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carbon monoxide-induced parkinsonism", "equivalent_identifiers": ["MONDO:0017639", "orphanet:306686", "UMLS:C0393565", "SNOMEDCT:230293003", "medgen:581450"], "information_content": 100.0}
{"id": "HP:0012644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased caudate lactate level", "equivalent_identifiers": ["HP:0012644", "UMLS:C4022806"], "information_content": 100.0}
{"id": "HP:0500231", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal CSF pyruvate family amino acid concentration", "equivalent_identifiers": ["HP:0500231", "UMLS:C5139616"], "information_content": 90.9}
{"id": "HP:0500246", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF citrulline concentration", "equivalent_identifiers": ["HP:0500246", "UMLS:C5139631"], "information_content": 100.0}
{"id": "HP:0030908", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liver kidney microsome type 1 antibody positivity", "equivalent_identifiers": ["HP:0030908", "UMLS:C4293677"], "information_content": 100.0}
{"id": "HP:0034263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vaginal bleeding", "equivalent_identifiers": ["HP:0034263", "UMLS:C0578503", "SNOMEDCT:301822002"], "information_content": 92.8}
{"id": "HP:0011885", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eye hemorrhage", "equivalent_identifiers": ["HP:0011885", "EFO:0008627", "UMLS:C0015402", "MEDDRA:10015926", "MEDDRA:10015927", "MEDDRA:10015928", "MEDDRA:10019536", "MEDDRA:10019553", "MEDDRA:10030039", "MEDDRA:10030040", "MEDDRA:10048972", "MEDDRA:10055297", "MEDDRA:10055805", "MEDDRA:10055816", "MEDDRA:10068170", "MEDDRA:10068173", "MEDDRA:10087532", "MEDDRA:10087539", "MP:0006203", "SNOMEDCT:417244000", "SNOMEDCT:93478000", "MESH:D005130"], "information_content": 79.9}
{"id": "HP:0011338", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of mouth shape", "equivalent_identifiers": ["HP:0011338", "UMLS:C4023407"], "information_content": 72.8}
{"id": "HP:0012790", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal intramembranous ossification", "equivalent_identifiers": ["HP:0012790", "UMLS:C4021069"], "information_content": 100.0}
{"id": "MONDO:0017583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mirror polydactyly-vertebral segmentation-limbs defects syndrome", "equivalent_identifiers": ["MONDO:0017583", "orphanet:3004", "UMLS:C4275100", "SNOMEDCT:715523005", "medgen:904039"], "information_content": 100.0}
{"id": "HP:0006599", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Medial widening of clavicles", "equivalent_identifiers": ["HP:0006599", "UMLS:C1866729"], "information_content": 100.0}
{"id": "MONDO:0009945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxine-dependent epilepsy", "equivalent_identifiers": ["MONDO:0009945", "DOID:0080768", "orphanet:3006", "UMLS:C1849508", "MESH:C536254", "SNOMEDCT:734434007", "medgen:340341"], "information_content": 92.8}
{"id": "HP:0011152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early onset absence seizures", "equivalent_identifiers": ["HP:0011152", "UMLS:C4023510"], "information_content": 100.0}
{"id": "HP:0030917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low APGAR score", "equivalent_identifiers": ["HP:0030917", "NCIT:C50416", "UMLS:C0549400", "MEDDRA:10002944"], "information_content": 78.8}
{"id": "HP:0011199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with generalized sharp slow waves", "equivalent_identifiers": ["HP:0011199", "UMLS:C4023475"], "information_content": 100.0}
{"id": "MONDO:0016856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mowat-Wilson syndrome due to a ZEB2 point mutation", "equivalent_identifiers": ["MONDO:0016856", "orphanet:261552", "UMLS:C5679681", "medgen:1842263"], "information_content": 100.0}
{"id": "HP:0030791", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal jaw morphology", "equivalent_identifiers": ["HP:0030791", "UMLS:C4280767"], "information_content": 66.8}
{"id": "HP:0040331", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal hypointensity of cerebral white matter on MRI", "equivalent_identifiers": ["HP:0040331", "UMLS:C4703613"], "information_content": 100.0}
{"id": "MONDO:0017999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatty acid hydroxylase-associated neurodegeneration", "equivalent_identifiers": ["MONDO:0017999", "orphanet:329308", "UMLS:C3668943", "MESH:C580102", "NCIT:C188989", "SNOMEDCT:702419001", "medgen:777150"], "information_content": 100.0}
{"id": "HP:0030584", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Color vision test abnormality", "equivalent_identifiers": ["HP:0030584", "UMLS:C4073057"], "information_content": 90.9}
{"id": "HP:0008516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the vertebral spinous processes", "equivalent_identifiers": ["HP:0008516", "UMLS:C4024661"], "information_content": 89.4}
{"id": "HP:0010724", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Advanced pneumatization of the mastoid process", "equivalent_identifiers": ["HP:0010724", "UMLS:C4021828"], "information_content": 100.0}
{"id": "HP:0009814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb peromelia", "equivalent_identifiers": ["HP:0009814", "UMLS:C4024199"], "information_content": 100.0}
{"id": "HP:0009818", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amelia involving the lower limbs", "equivalent_identifiers": ["HP:0009818", "UMLS:C4024197"], "information_content": 100.0}
{"id": "MONDO:0016595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inhalational anthrax", "equivalent_identifiers": ["MONDO:0016595", "DOID:0050160", "orphanet:247257", "UMLS:C0155866", "MESH:C571912", "MEDDRA:10035667", "MEDDRA:10035704", "MEDDRA:10037321", "SNOMEDCT:11389007", "SNOMEDCT:195902009", "medgen:57841"], "information_content": 100.0}
{"id": "MONDO:0007231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachytelephalangy-dysmorphism-Kallmann syndrome", "equivalent_identifiers": ["MONDO:0007231", "OMIM:113480", "orphanet:1295", "UMLS:C2931421", "MESH:C537101", "medgen:444052"], "information_content": 100.0}
{"id": "HP:0025714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral cortical microinfarct", "equivalent_identifiers": ["HP:0025714", "UMLS:C5676639"], "information_content": 100.0}
{"id": "HP:0012335", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of folate metabolism", "equivalent_identifiers": ["HP:0012335", "UMLS:C4022951"], "information_content": 85.5}
{"id": "HP:0032164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased blood folate concentration", "equivalent_identifiers": ["HP:0032164", "UMLS:C5139164"], "information_content": 100.0}
{"id": "HP:0500170", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal concentration of acylcarnitine in the urine", "equivalent_identifiers": ["HP:0500170", "UMLS:C5139564"], "information_content": 92.8}
{"id": "MONDO:0016411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism due to deficient transcription factors involved in pituitary development or function", "equivalent_identifiers": ["MONDO:0016411", "orphanet:226307", "UMLS:C4273672", "SNOMEDCT:718194004", "medgen:900830"], "information_content": 100.0}
{"id": "MONDO:0010464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cerebral-cerebellar-coloboma syndrome syndrome", "equivalent_identifiers": ["MONDO:0010464", "OMIM:300864", "orphanet:163961", "UMLS:C3275487", "SNOMEDCT:770604006", "medgen:477118"], "information_content": 100.0}
{"id": "MONDO:0016594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "superficial siderosis", "equivalent_identifiers": ["MONDO:0016594", "orphanet:247245", "UMLS:C2938918", "MEDDRA:10070564", "SNOMEDCT:733200004", "medgen:1371500"], "information_content": 100.0}
{"id": "HP:0030321", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vertebral artery morphology", "equivalent_identifiers": ["HP:0030321", "UMLS:C4022512"], "information_content": 86.3}
{"id": "HP:0045052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the brachial nerve plexus", "equivalent_identifiers": ["HP:0045052", "UMLS:C4073176"], "information_content": 95.4}
{"id": "MONDO:0012247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 27", "equivalent_identifiers": ["MONDO:0012247", "DOID:0050976", "orphanet:98764", "UMLS:C1836383", "MESH:C537204", "SNOMEDCT:719252002", "medgen:373075", "icd11.foundation:1408059647"], "information_content": 100.0}
{"id": "MONDO:0016855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mowat-Wilson syndrome due to monosomy 2q22", "equivalent_identifiers": ["MONDO:0016855", "orphanet:261537", "UMLS:C5437617", "SNOMEDCT:890118006", "medgen:1723926"], "information_content": 100.0}
{"id": "MONDO:0016854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "49,XXXYY syndrome", "equivalent_identifiers": ["MONDO:0016854", "orphanet:261534", "UMLS:C4749586", "SNOMEDCT:770908007", "medgen:1667231"], "information_content": 100.0}
{"id": "HP:0010506", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal plantar dermatoglyphics", "equivalent_identifiers": ["HP:0010506", "UMLS:C4021258"], "information_content": 100.0}
{"id": "MONDO:0019440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wild type ABeta2M amyloidosis", "equivalent_identifiers": ["MONDO:0019440", "orphanet:85446", "UMLS:C0268405", "SNOMEDCT:32599008", "medgen:78673", "icd11.foundation:499046814"], "information_content": 100.0}
{"id": "HP:0100261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tendon morphology", "equivalent_identifiers": ["HP:0100261", "UMLS:C4021026"], "information_content": 67.9}
{"id": "HP:0012770", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced arm span", "equivalent_identifiers": ["HP:0012770", "UMLS:C4022730"], "information_content": 100.0}
{"id": "MONDO:0100552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ATTRV30M amyloidosis", "equivalent_identifiers": ["MONDO:0100552", "orphanet:85447", "UMLS:C0268384", "MEDDRA:10019892", "SNOMEDCT:398229007", "medgen:78669", "icd11.foundation:1736273667"], "information_content": 100.0}
{"id": "HP:0011025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cardiovascular system physiology", "equivalent_identifiers": ["HP:0011025", "UMLS:C4023587"], "information_content": 54.3}
{"id": "HP:0025015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vascular morphology", "equivalent_identifiers": ["HP:0025015", "UMLS:C4293699"], "information_content": 53.7}
{"id": "MONDO:0019438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AL amyloidosis", "equivalent_identifiers": ["MONDO:0019438", "DOID:0080933", "orphanet:85443", "UMLS:C0268381", "MESH:C531616", "MESH:D000075363", "MEDDRA:10036673", "MEDDRA:10083938", "MEDDRA:10086183", "NCIT:C158963", "NCIT:C3819", "SNOMEDCT:23132008", "medgen:75674", "icd11.foundation:1061366491", "icd11.foundation:113043090", "ICD10:E85.81"], "information_content": 83.1}
{"id": "HP:0025077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased QRS voltage", "equivalent_identifiers": ["HP:0025077", "NCIT:C71078", "UMLS:C2349945", "MEDDRA:10057505", "SNOMEDCT:251146004"], "information_content": 100.0}
{"id": "HP:0025552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periorbital purpura", "equivalent_identifiers": ["HP:0025552", "UMLS:C4531295"], "information_content": 100.0}
{"id": "HP:0031326", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monoclonal light chain cardiac amyloidosis", "equivalent_identifiers": ["HP:0031326", "UMLS:C4531197"], "information_content": 100.0}
{"id": "HP:0032613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal interstitial amyloid deposits", "equivalent_identifiers": ["HP:0032613", "UMLS:C5397634"], "information_content": 100.0}
{"id": "HP:0001713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cardiac ventricle morphology", "equivalent_identifiers": ["HP:0001713", "UMLS:C4025752"], "information_content": 63.3}
{"id": "HP:0005120", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cardiac atrium morphology", "equivalent_identifiers": ["HP:0005120", "UMLS:C4025246"], "information_content": 64.9}
{"id": "HP:0025389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary interstitial high-resolution computed tomography abnormality", "equivalent_identifiers": ["HP:0025389", "UMLS:C4476747"], "information_content": 80.6}
{"id": "MONDO:0002268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyspepsia", "equivalent_identifiers": ["MONDO:0002268", "EFO:0008533", "UMLS:C0013395", "MESH:D004415", "MEDDRA:10013946", "MEDDRA:10021706", "NCIT:C26756", "SNOMEDCT:162031009", "medgen:41681", "icd11.foundation:869622187", "HP:0410281"], "information_content": 75.8}
{"id": "MONDO:0015600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Cilliers type", "equivalent_identifiers": ["MONDO:0015600", "orphanet:163971", "UMLS:C4305024", "SNOMEDCT:719013004", "medgen:930693"], "information_content": 100.0}
{"id": "orphanet:226316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genetic transient congenital hypothyroidism", "equivalent_identifiers": ["orphanet:226316"]}
{"id": "HP:0031221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal radioactive iodine uptake test result", "equivalent_identifiers": ["HP:0031221", "UMLS:C4531268"], "information_content": 92.8}
{"id": "MONDO:0019441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ATTRV122I amyloidosis", "equivalent_identifiers": ["MONDO:0019441", "orphanet:85451", "UMLS:C4275067", "SNOMEDCT:715655000", "medgen:907865", "icd11.foundation:1449168185"], "information_content": 100.0}
{"id": "HP:0025028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal enteric nervous system morphology", "equivalent_identifiers": ["HP:0025028", "UMLS:C4293693"], "information_content": 82.6}
{"id": "MONDO:0015259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-mesomelia-intellectual disability-heart defects syndrome", "equivalent_identifiers": ["MONDO:0015259", "orphanet:1277", "UMLS:C4707567", "SNOMEDCT:765761009", "medgen:1645467"], "information_content": 100.0}
{"id": "MONDO:0012016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "capillary malformation-arteriovenous malformation syndrome", "equivalent_identifiers": ["MONDO:0012016", "OMIM.PS:608354", "orphanet:137667", "UMLS:C1842180", "MESH:C564254", "NCIT:C179668", "SNOMEDCT:703533007", "medgen:334007"], "information_content": 92.8}
{"id": "MONDO:0016413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypothyroidism due to maternal intake of antithyroid drugs", "equivalent_identifiers": ["MONDO:0016413", "orphanet:226313", "UMLS:C5190849", "SNOMEDCT:783177006", "medgen:1673658"], "information_content": 100.0}
{"id": "HP:0008820", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent ossification of capital femoral epiphysis", "equivalent_identifiers": ["HP:0008820", "UMLS:C1968686"], "information_content": 100.0}
{"id": "MONDO:0016591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sporadic adult-onset ataxia of unknown etiology", "equivalent_identifiers": ["MONDO:0016591", "orphanet:247234", "UMLS:C4518339", "SNOMEDCT:734023003", "medgen:1383968"], "information_content": 100.0}
{"id": "HP:0030500", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yellow/white lesions of the macula", "equivalent_identifiers": ["HP:0030500", "UMLS:C4072987"], "information_content": 85.5}
{"id": "HP:0030602", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fundus autofluorescence imaging", "equivalent_identifiers": ["HP:0030602", "UMLS:C4073073"], "information_content": 84.2}
{"id": "HP:0030625", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyporeflective spaces on macular OCT", "equivalent_identifiers": ["HP:0030625", "UMLS:C4073095"], "information_content": 92.8}
{"id": "HP:0012082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellar Purkinje layer atrophy", "equivalent_identifiers": ["HP:0012082", "UMLS:C4023053"], "information_content": 100.0}
{"id": "MONDO:0016853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring chromosome Y", "equivalent_identifiers": ["MONDO:0016853", "orphanet:261529", "UMLS:C4706450", "SNOMEDCT:763407008", "medgen:1631964", "icd11.foundation:388539343"], "information_content": 100.0}
{"id": "MONDO:0020298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15", "equivalent_identifiers": ["MONDO:0020298", "orphanet:98754", "UMLS:C5680343", "medgen:1826079"], "information_content": 100.0}
{"id": "MONDO:0016852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal uniparental disomy of chromosome X", "equivalent_identifiers": ["MONDO:0016852", "orphanet:261524", "UMLS:C5191049", "SNOMEDCT:783718003", "medgen:1683101", "icd11.foundation:444322860"], "information_content": 100.0}
{"id": "MONDO:0009167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bonnemann-Meinecke-Reich syndrome", "equivalent_identifiers": ["MONDO:0009167", "OMIM:225755", "orphanet:1261", "UMLS:C1856973", "UMLS:C4518560", "MESH:C565594", "SNOMEDCT:733049004", "medgen:346482"], "information_content": 100.0}
{"id": "MONDO:0019435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rheumatoid factor-positive polyarticular juvenile idiopathic arthritis", "equivalent_identifiers": ["MONDO:0019435", "orphanet:85435", "EFO:0009731", "UMLS:C3890733", "NCIT:C119034", "medgen:855737"], "information_content": 100.0}
{"id": "HP:0005187", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive joint destruction", "equivalent_identifiers": ["HP:0005187", "UMLS:C4025243"], "information_content": 100.0}
{"id": "HP:0040311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symmetric polyarthritis", "equivalent_identifiers": ["HP:0040311", "UMLS:C0747729"], "information_content": 100.0}
{"id": "HP:0010588", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Premature epimetaphyseal fusion", "equivalent_identifiers": ["HP:0010588", "UMLS:C0151628", "MEDDRA:10009666", "MEDDRA:10015073", "MEDDRA:10015078", "MEDDRA:10015081", "MEDDRA:10036598", "MEDDRA:10083849", "SNOMEDCT:89493005"], "information_content": 87.2}
{"id": "MONDO:0019436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis-related juvenile idiopathic arthritis", "equivalent_identifiers": ["MONDO:0019436", "orphanet:85436", "EFO:0009733", "UMLS:C3714758", "MEDDRA:10076674", "NCIT:C114361", "SNOMEDCT:239802003", "medgen:811463", "icd11.foundation:1473955563"], "information_content": 100.0}
{"id": "HP:0031091", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toe dactylitis", "equivalent_identifiers": ["HP:0031091", "UMLS:C0457085", "SNOMEDCT:277891000", "SNOMEDCT:710813008"], "information_content": 100.0}
{"id": "MONDO:0019437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enthesitis-related juvenile idiopathic arthritis", "equivalent_identifiers": ["MONDO:0019437", "orphanet:85438", "EFO:0009732", "UMLS:C1444844", "UMLS:C3495919", "MEDDRA:10072745", "NCIT:C119024", "SNOMEDCT:410801005", "medgen:854059", "icd11.foundation:1128255226"], "information_content": 100.0}
{"id": "HP:0100536", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fascia morphology", "equivalent_identifiers": ["HP:0100536", "UMLS:C4022028"], "information_content": 92.8}
{"id": "MONDO:0005498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "botulism", "equivalent_identifiers": ["MONDO:0005498", "DOID:11976", "orphanet:1267", "EFO:0005542", "UMLS:C0006057", "MESH:D001906", "MEDDRA:10006041", "MEDDRA:10009656", "NCIT:C84599", "SNOMEDCT:398565003", "medgen:14204", "icd11.foundation:78422942", "ICD10:A05.1"], "information_content": 85.5}
{"id": "orphanet:137698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk", "equivalent_identifiers": ["orphanet:137698"]}
{"id": "HP:6001005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive gastric CMV intranuclear inclusions", "equivalent_identifiers": ["HP:6001005", "UMLS:C5970345"], "information_content": 100.0}
{"id": "MONDO:0008622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricho-retino-dento-digital syndrome", "equivalent_identifiers": ["MONDO:0008622", "OMIM:191482", "orphanet:1264", "UMLS:C1860605", "MESH:C536576", "SNOMEDCT:719910004", "medgen:348658", "icd11.foundation:200680230"], "information_content": 100.0}
{"id": "MONDO:0007207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Böök syndrome", "equivalent_identifiers": ["MONDO:0007207", "OMIM:112300", "orphanet:1262", "UMLS:C0457014", "MESH:C562993", "SNOMEDCT:722296002", "medgen:99140"], "information_content": 100.0}
{"id": "MONDO:0008051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tubular aggregate myopathy", "equivalent_identifiers": ["MONDO:0008051", "DOID:0080089", "OMIM.PS:160565", "orphanet:2593", "UMLS:C0410207", "SNOMEDCT:240087000", "medgen:98050"], "information_content": 92.8}
{"id": "MONDO:0000863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, lactic acidosis, and sideroblastic anemia", "equivalent_identifiers": ["MONDO:0000863", "DOID:0080099", "OMIM.PS:600462", "orphanet:2598", "UMLS:C1838103", "MESH:C536101", "SNOMEDCT:724138007", "medgen:373888"], "information_content": 90.9}
{"id": "MONDO:0016851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome X", "equivalent_identifiers": ["MONDO:0016851", "orphanet:261519", "UMLS:C5191056", "SNOMEDCT:783735004", "medgen:1673747", "icd11.foundation:573923144"], "information_content": 100.0}
{"id": "MONDO:0015299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asherman syndrome", "equivalent_identifiers": ["MONDO:0015299", "orphanet:137686", "UMLS:C0156372", "MEDDRA:10053868", "MEDDRA:10053914", "MEDDRA:10062838", "SNOMEDCT:48236007", "medgen:57629", "icd11.foundation:2022431339", "HP:0030712"], "information_content": 100.0}
{"id": "MONDO:0016822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myalgia-eosinophilia syndrome associated with tryptophan", "equivalent_identifiers": ["MONDO:0016822", "orphanet:2582", "UMLS:C1275050", "SNOMEDCT:403735006", "medgen:698358"], "information_content": 100.0}
{"id": "MONDO:0016823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mycetoma", "equivalent_identifiers": ["MONDO:0016823", "orphanet:2583", "UMLS:C0024449", "MESH:D008271", "MEDDRA:10028427", "NCIT:C85505", "SNOMEDCT:410039003", "medgen:44241"], "information_content": 95.4}
{"id": "HP:0010219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Structural foot deformity", "equivalent_identifiers": ["HP:0010219", "UMLS:C4023965"], "information_content": 100.0}
{"id": "HP:0011844", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal appendicular skeleton morphology", "equivalent_identifiers": ["HP:0011844", "UMLS:C4023163"], "information_content": 46.6}
{"id": "HP:0025245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous cyst", "equivalent_identifiers": ["HP:0025245", "NCIT:C3884", "UMLS:C0241060", "MEDDRA:10012426", "MEDDRA:10040821", "MEDDRA:10040822", "SNOMEDCT:285302001"], "information_content": 83.6}
{"id": "HP:0030690", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gingival cleft", "equivalent_identifiers": ["HP:0030690", "UMLS:C0426489", "SNOMEDCT:109622003"], "information_content": 100.0}
{"id": "MONDO:0015341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital panfollicular nevus", "equivalent_identifiers": ["MONDO:0015341", "orphanet:139414", "UMLS:C4476799", "SNOMEDCT:770940006", "medgen:1381094", "HP:0025471"], "information_content": 100.0}
{"id": "MONDO:0011424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney triad", "equivalent_identifiers": ["MONDO:0011424", "OMIM:604287", "orphanet:139411", "UMLS:C1858592", "MESH:C565803", "NCIT:C94833", "SNOMEDCT:733492003", "medgen:388099", "icd11.foundation:1771169701"], "information_content": 100.0}
{"id": "HP:0002717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal overactivity", "equivalent_identifiers": ["HP:0002717", "UMLS:C4025685"], "information_content": 80.9}
{"id": "HP:0025721", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limited vertical extraocular movement", "equivalent_identifiers": ["HP:0025721", "UMLS:C5676644"], "information_content": 100.0}
{"id": "HP:6000709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent Bell phenomenon", "equivalent_identifiers": ["HP:6000709", "UMLS:C5937445"], "information_content": 100.0}
{"id": "HP:0025309", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed Pupil", "equivalent_identifiers": ["HP:0025309", "UMLS:C0271134", "SNOMEDCT:79017007"], "information_content": 95.4}
{"id": "HP:0030588", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal visual field test", "equivalent_identifiers": ["HP:0030588", "UMLS:C0854021", "MEDDRA:10047567"], "information_content": 83.6}
{"id": "MONDO:0015342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute transverse myelitis", "equivalent_identifiers": ["MONDO:0015342", "orphanet:139417", "UMLS:C0270627", "MESH:D009188", "NCIT:C128378", "SNOMEDCT:47000000", "medgen:82847"], "information_content": 92.8}
{"id": "HP:5000013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-GFAP antibody", "equivalent_identifiers": ["HP:5000013", "UMLS:C5551496"], "information_content": 100.0}
{"id": "HP:0010835", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dissociated sensory loss", "equivalent_identifiers": ["HP:0010835", "UMLS:C0278136", "SNOMEDCT:87275002"], "information_content": 100.0}
{"id": "HP:0031700", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Invasive parasitic infection", "equivalent_identifiers": ["HP:0031700", "UMLS:C4703488"], "information_content": 100.0}
{"id": "MONDO:0019845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iatrogenic or traumatic pituitary deficiency", "equivalent_identifiers": ["MONDO:0019845", "orphanet:95619", "UMLS:C0342400", "SNOMEDCT:237699005", "medgen:575005"], "information_content": 100.0}
{"id": "MONDO:0016820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moyamoya disease", "equivalent_identifiers": ["MONDO:0016820", "DOID:13099", "OMIM.PS:252350", "orphanet:2573", "UMLS:C0026654", "MESH:D009072", "MEDDRA:10028047", "MEDDRA:10067590", "NCIT:C84895", "SNOMEDCT:89142007", "medgen:7726", "icd11.foundation:1746892088", "icd11.foundation:369231682", "ICD10:I67.5", "ICD9:437.5"], "information_content": 86.3}
{"id": "MONDO:0008755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moynahan syndrome", "equivalent_identifiers": ["MONDO:0008755", "OMIM:203600", "orphanet:2574", "UMLS:C0265328", "MESH:C537052", "SNOMEDCT:788417006", "medgen:120535"], "information_content": 100.0}
{"id": "MONDO:0018227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypocomplementemic urticarial vasculitis", "equivalent_identifiers": ["MONDO:0018227", "orphanet:36412", "UMLS:C0343206", "SNOMEDCT:239945009", "medgen:83360", "icd11.foundation:629572966"], "information_content": 100.0}
{"id": "MONDO:0009062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic fibrosis-gastritis-megaloblastic anemia syndrome", "equivalent_identifiers": ["MONDO:0009062", "OMIM:219721", "orphanet:2575", "UMLS:C2931402", "UMLS:C3806255", "MESH:C537039", "SNOMEDCT:720401009", "medgen:812585"], "information_content": 100.0}
{"id": "MONDO:0006908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary apoplexy", "equivalent_identifiers": ["MONDO:0006908", "DOID:1129", "orphanet:95613", "EFO:1001108", "UMLS:C0032001", "MESH:D010899", "MEDDRA:10056447", "NCIT:C26853", "SNOMEDCT:237701005", "medgen:18489", "icd11.foundation:1938573221"], "information_content": 100.0}
{"id": "HP:0030907", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thunderclap headache", "equivalent_identifiers": ["HP:0030907", "UMLS:C0521668", "MEDDRA:10075481", "SNOMEDCT:122731000119104", "SNOMEDCT:95660002"], "information_content": 100.0}
{"id": "HP:0030595", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal static automated perimetry test", "equivalent_identifiers": ["HP:0030595", "UMLS:C4073067"], "information_content": 89.4}
{"id": "HP:0100707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal astrocyte morphology", "equivalent_identifiers": ["HP:0100707", "UMLS:C4021991"], "information_content": 81.3}
{"id": "MONDO:0019388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvis syndrome", "equivalent_identifiers": ["MONDO:0019388", "orphanet:83628", "UMLS:C4510867", "MEDDRA:10082400", "SNOMEDCT:725138002", "medgen:1374037", "icd11.foundation:1311821224"], "information_content": 100.0}
{"id": "MONDO:0018425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huntington disease-like syndrome due to C9ORF72 expansions", "equivalent_identifiers": ["MONDO:0018425", "orphanet:401901", "UMLS:C5190586", "SNOMEDCT:782743001", "medgen:1676144"], "information_content": 100.0}
{"id": "MONDO:0015252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "equivalent_identifiers": ["MONDO:0015252", "orphanet:1236", "UMLS:C5190778", "SNOMEDCT:783005002", "medgen:1682668"], "information_content": 100.0}
{"id": "MONDO:0015340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug rash with eosinophilia and systemic symptoms", "equivalent_identifiers": ["MONDO:0015340", "orphanet:139402", "EFO:1002004", "UMLS:C3541994", "MESH:D063926", "MEDDRA:10058899", "MEDDRA:10058919", "MEDDRA:10059724", "MEDDRA:10073508", "NCIT:C112208", "SNOMEDCT:702809001", "medgen:762193", "icd11.foundation:516577496"], "information_content": 92.8}
{"id": "HP:0030249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enanthema", "equivalent_identifiers": ["HP:0030249", "NCIT:C112197", "UMLS:C0014034", "MEDDRA:10014579", "SNOMEDCT:5862001"], "information_content": 100.0}
{"id": "MONDO:0017630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked complicated spastic paraplegia type 1", "equivalent_identifiers": ["MONDO:0017630", "orphanet:306617", "UMLS:C5779711", "medgen:1843445"], "information_content": 100.0}
{"id": "MONDO:0016819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0016819", "orphanet:2560", "UMLS:C2931024", "MESH:C535806", "SNOMEDCT:724174003", "medgen:419697"], "information_content": 100.0}
{"id": "HP:0000182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Movement abnormality of the tongue", "equivalent_identifiers": ["HP:0000182", "UMLS:C4025882"], "information_content": 90.9}
{"id": "MONDO:0971092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "soft and hard cleft palate", "equivalent_identifiers": ["MONDO:0971092", "orphanet:664372"], "information_content": 100.0}
{"id": "orphanet:401911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AXIN2-related polyposis", "equivalent_identifiers": ["orphanet:401911"]}
{"id": "HP:3000050", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal odontoid tissue morphology", "equivalent_identifiers": ["HP:3000050", "UMLS:C4073258"], "information_content": 72.3}
{"id": "MONDO:0019387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrostomia-preauricular tags-external ophthalmoplegia syndrome", "equivalent_identifiers": ["MONDO:0019387", "orphanet:83619", "UMLS:C4509840", "SNOMEDCT:723366001", "medgen:1391725"], "information_content": 100.0}
{"id": "MONDO:0018229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stevens-Johnson syndrome", "equivalent_identifiers": ["MONDO:0018229", "DOID:0050426", "OMIM:608579", "orphanet:36426", "EFO:0004276", "UMLS:C0038325", "UMLS:C1837818", "UMLS:C1840548", "UMLS:C2608081", "UMLS:C3277286", "MESH:D013262", "MEDDRA:10006561", "MEDDRA:10015209", "MEDDRA:10015211", "MEDDRA:10015219", "MEDDRA:10042029", "MEDDRA:10042030", "MEDDRA:10042033", "MEDDRA:10042849", "NCIT:C79484", "SNOMEDCT:73442001", "medgen:20955", "icd11.foundation:450167795", "ICD10:L51.1", "ICD9:695.13"], "information_content": 100.0}
{"id": "MONDO:0012508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome", "equivalent_identifiers": ["MONDO:0012508", "OMIM:610483", "orphanet:83617", "UMLS:C1864848", "UMLS:C4302680", "MESH:C538055", "SNOMEDCT:722281001", "medgen:351236"], "information_content": 100.0}
{"id": "MONDO:0015346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy with eyelid myoclonia", "equivalent_identifiers": ["MONDO:0015346", "orphanet:139431", "UMLS:C4274731", "MEDDRA:10084303", "SNOMEDCT:716278005", "medgen:901966", "icd11.foundation:262814036"], "information_content": 100.0}
{"id": "HP:0010858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with hyperventilation-induced epileptiform discharges", "equivalent_identifiers": ["HP:0010858", "UMLS:C4023682"], "information_content": 92.8}
{"id": "MONDO:0015347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicentric reticulohistiocytosis", "equivalent_identifiers": ["MONDO:0015347", "DOID:11824", "orphanet:139436", "UMLS:C0311284", "MEDDRA:10070595", "NCIT:C27896", "SNOMEDCT:84241008", "medgen:86315", "icd11.foundation:977116795", "ICD10:E78.81"], "information_content": 100.0}
{"id": "MONDO:0018124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oncogenic osteomalacia", "equivalent_identifiers": ["MONDO:0018124", "orphanet:352540", "UMLS:C1274103", "MESH:C537751", "MEDDRA:10077950", "NCIT:C67235", "SNOMEDCT:392559009", "medgen:226893"], "information_content": 88.2}
{"id": "HP:6000489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating fibroblast growth factor 23 concentration", "equivalent_identifiers": ["HP:6000489", "UMLS:C5937256"], "information_content": 90.9}
{"id": "MONDO:0005674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone giant cell tumor", "equivalent_identifiers": ["MONDO:0005674", "DOID:4305", "orphanet:363976", "EFO:0007176", "UMLS:C0206638", "MESH:D018212", "MEDDRA:10004239", "MEDDRA:10005968", "MEDDRA:10005969", "MEDDRA:10005970", "MEDDRA:10062381", "MEDDRA:10062385", "MEDDRA:10088487", "NCIT:C121932", "SNOMEDCT:57500000", "SNOMEDCT:697970009", "medgen:64624", "HP:0011847"], "information_content": 90.9}
{"id": "MONDO:0007313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cheilitis glandularis", "equivalent_identifiers": ["MONDO:0007313", "OMIM:118330", "orphanet:1221", "UMLS:C0267034", "MESH:C535921", "SNOMEDCT:26374003", "medgen:75626"], "information_content": 100.0}
{"id": "MONDO:0005846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microsporidiosis", "equivalent_identifiers": ["MONDO:0005846", "DOID:4271", "orphanet:2552", "EFO:0007366", "UMLS:C0085407", "MESH:D016881", "MEDDRA:10053982", "NCIT:C84891", "SNOMEDCT:65883009", "SNOMEDCT:699676006", "medgen:39278", "icd11.foundation:1021483422", "ICD10:B60.8"], "information_content": 95.4}
{"id": "HP:0011277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the urinary system physiology", "equivalent_identifiers": ["HP:0011277", "UMLS:C4023437"], "information_content": 54.7}
{"id": "HP:0030126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal endometrium morphology", "equivalent_identifiers": ["HP:0030126", "UMLS:C4022620"], "information_content": 79.6}
{"id": "MONDO:0009626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudo-TORCH syndrome", "equivalent_identifiers": ["MONDO:0009626", "DOID:0050656", "OMIM.PS:251290", "orphanet:1229", "UMLS:C2931662", "UMLS:C3489725", "MESH:C537905", "SNOMEDCT:722390006", "medgen:483678"], "information_content": 90.9}
{"id": "MONDO:0007185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Banki syndrome", "equivalent_identifiers": ["MONDO:0007185", "OMIM:109300", "orphanet:1228", "UMLS:C1862319", "MESH:C566228", "SNOMEDCT:733093004", "medgen:350648"], "information_content": 100.0}
{"id": "MONDO:0016817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome", "equivalent_identifiers": ["MONDO:0016817", "DOID:0060306", "OMIM.PS:224690", "orphanet:2554", "UMLS:C1868684", "MESH:C538012", "MEDDRA:10070612", "medgen:401501"], "information_content": 85.5}
{"id": "MONDO:0010672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MLS syndrome", "equivalent_identifiers": ["MONDO:0010672", "DOID:0111875", "OMIM.PS:309801", "orphanet:2556", "MESH:C537466", "SNOMEDCT:721879006"], "information_content": 90.9}
{"id": "MONDO:0018304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schnitzler syndrome", "equivalent_identifiers": ["MONDO:0018304", "DOID:4371", "orphanet:37748", "EFO:1001165", "UMLS:C0524988", "MESH:D019873", "MEDDRA:10062908", "SNOMEDCT:402415001", "medgen:141892", "icd11.foundation:1867840545"], "information_content": 100.0}
{"id": "HP:0011832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow nasal tip", "equivalent_identifiers": ["HP:0011832", "UMLS:C0426433", "SNOMEDCT:249331008"], "information_content": 100.0}
{"id": "MONDO:0018428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "9q31.1q31.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018428", "orphanet:401923", "UMLS:C4750910", "SNOMEDCT:773493002", "medgen:1665719"], "information_content": 100.0}
{"id": "MONDO:0019385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "steroid-responsive encephalopathy associated with autoimmune thyroiditis", "equivalent_identifiers": ["MONDO:0019385", "orphanet:83601", "UMLS:C0393639", "MESH:C535841", "MEDDRA:10069432", "SNOMEDCT:771271000", "medgen:98280"], "information_content": 100.0}
{"id": "MONDO:0019384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalitis lethargica", "equivalent_identifiers": ["MONDO:0019384", "DOID:5225", "orphanet:83600", "UMLS:C0014040", "UMLS:C0014055", "MESH:D004671", "MEDDRA:10003410", "MEDDRA:10052369", "NCIT:C26761", "NCIT:C34576", "SNOMEDCT:186498004", "SNOMEDCT:186499007", "SNOMEDCT:192687008", "SNOMEDCT:285756005", "medgen:4028", "icd11.foundation:1777779617", "ICD10:A85.8"], "information_content": 100.0}
{"id": "HP:0032523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tendon thickening", "equivalent_identifiers": ["HP:0032523", "UMLS:C3854629", "MEDDRA:10075258"], "information_content": 100.0}
{"id": "MONDO:0018123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0018123", "orphanet:352530", "UMLS:C4706414", "SNOMEDCT:763350002", "medgen:1644787"], "information_content": 100.0}
{"id": "MONDO:0043143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia microtia fetal akinesia", "equivalent_identifiers": ["MONDO:0043143", "orphanet:2547", "UMLS:C2931224", "MESH:C536513", "SNOMEDCT:1230344000", "medgen:444005"], "information_content": 100.0}
{"id": "MONDO:0015345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perioral myoclonia with absences", "equivalent_identifiers": ["MONDO:0015345", "orphanet:139426", "UMLS:C4707846", "SNOMEDCT:766815007", "medgen:1637328", "icd11.foundation:1067045592"], "information_content": 100.0}
{"id": "MONDO:0014720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant optic atrophy plus syndrome", "equivalent_identifiers": ["MONDO:0014720", "DOID:0111340", "orphanet:1215", "SNOMEDCT:715374003", "icd11.foundation:1149710475"], "information_content": 89.4}
{"id": "HP:0100285", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: impaired neuromuscular transmission", "equivalent_identifiers": ["HP:0100285", "UMLS:C4022168"], "information_content": 92.8}
{"id": "MONDO:0016033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome", "equivalent_identifiers": ["MONDO:0016033", "DOID:11725", "OMIM.PS:122470", "orphanet:199", "UMLS:C0270972", "MESH:D003635", "MEDDRA:10056354", "MEDDRA:10077707", "NCIT:C75016", "medgen:78752", "icd11.foundation:1801560012"], "information_content": 87.2}
{"id": "HP:0003874", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Humerus varus", "equivalent_identifiers": ["HP:0003874", "UMLS:C4025537"], "information_content": 100.0}
{"id": "MONDO:0018837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postinfectious vasculitis", "equivalent_identifiers": ["MONDO:0018837", "orphanet:48435", "UMLS:C4510302", "SNOMEDCT:724063005", "medgen:1376009"], "information_content": 100.0}
{"id": "HP:0031363", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palpable purpura", "equivalent_identifiers": ["HP:0031363", "UMLS:C0151190", "MEDDRA:10056872"], "information_content": 100.0}
{"id": "MONDO:0016006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cockayne syndrome", "equivalent_identifiers": ["MONDO:0016006", "DOID:2962", "orphanet:191", "UMLS:C0009207", "MESH:D003057", "MEDDRA:10009835", "MEDDRA:10083972", "NCIT:C9460", "SNOMEDCT:21086008", "medgen:40363", "icd11.foundation:1206275070"], "information_content": 83.6}
{"id": "HP:0011527", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lentiglobus", "equivalent_identifiers": ["HP:0011527", "UMLS:C1622439", "UMLS:C4280322", "SNOMEDCT:419281007"], "information_content": 100.0}
{"id": "MONDO:0018429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "14q24.1q24.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018429", "orphanet:401935", "UMLS:C4750911", "SNOMEDCT:773494008", "medgen:1668571"], "information_content": 100.0}
{"id": "MONDO:0007993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microgastria-limb reduction defect syndrome", "equivalent_identifiers": ["MONDO:0007993", "OMIM:156810", "orphanet:2538", "UMLS:C1834929", "MESH:C537554", "medgen:322532"], "information_content": 100.0}
{"id": "MONDO:0016041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microgastria", "equivalent_identifiers": ["MONDO:0016041", "orphanet:199293", "UMLS:C0266150", "SNOMEDCT:83714006", "medgen:82732", "icd11.foundation:1695007532", "HP:0100841"], "information_content": 100.0}
{"id": "MONDO:0017636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemiparkinsonism-hemiatrophy syndrome", "equivalent_identifiers": ["MONDO:0017636", "orphanet:306669", "UMLS:C4545231", "SNOMEDCT:737582007", "medgen:1627807", "icd11.foundation:193784690"], "information_content": 100.0}
{"id": "HP:0030962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the great vessels", "equivalent_identifiers": ["HP:0030962", "UMLS:C4476878"], "information_content": 61.7}
{"id": "MONDO:0018115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermal nevus syndrome", "equivalent_identifiers": ["MONDO:0018115", "orphanet:35125", "UMLS:C5848385", "SNOMEDCT:239112008", "medgen:1847175"], "information_content": 100.0}
{"id": "MONDO:0007991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-deafness-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0007991", "OMIM:156620", "orphanet:2533", "UMLS:C0796062", "MESH:C537326", "SNOMEDCT:716112005", "medgen:163208"], "information_content": 100.0}
{"id": "HP:0025495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Descending aorta hypoplasia", "equivalent_identifiers": ["HP:0025495", "UMLS:C4476811"], "information_content": 100.0}
{"id": "MONDO:0016523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchogenic cyst", "equivalent_identifiers": ["MONDO:0016523", "orphanet:2357", "UMLS:C0006281", "MESH:D001994", "MEDDRA:10051546", "MEDDRA:10063064", "MEDDRA:10064585", "SNOMEDCT:268194008", "SNOMEDCT:762195006", "SNOMEDCT:9550003", "medgen:668", "icd11.foundation:355400995", "HP:0100730"], "information_content": 100.0}
{"id": "orphanet:184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cherubism", "equivalent_identifiers": ["orphanet:184"]}
{"id": "HP:0012292", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fusion of gums", "equivalent_identifiers": ["HP:0012292", "UMLS:C4022966"], "information_content": 100.0}
{"id": "HP:3000010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of orbicularis oris muscle", "equivalent_identifiers": ["HP:3000010", "UMLS:C4073219"], "information_content": 100.0}
{"id": "MONDO:0015943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic granulomatosis with polyangiitis", "equivalent_identifiers": ["MONDO:0015943", "DOID:3049", "orphanet:183", "EFO:0007208", "UMLS:C0008728", "MESH:D015267", "MEDDRA:10001693", "MEDDRA:10001713", "MEDDRA:10001714", "MEDDRA:10009164", "MEDDRA:10014957", "MEDDRA:10048594", "MEDDRA:10078117", "NCIT:C34481", "SNOMEDCT:82275008", "medgen:3088", "icd11.foundation:835880885", "ICD10:M30.1"], "information_content": 100.0}
{"id": "MONDO:0004802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary eosinophilia", "equivalent_identifiers": ["MONDO:0004802", "DOID:9498", "UMLS:C0034068", "UMLS:C5552799", "MESH:D011657", "MEDDRA:10037382", "MEDDRA:10037412", "SNOMEDCT:367542003", "medgen:46208", "icd11.foundation:544479555", "ICD9:518.3", "HP:0032071"], "information_content": 95.4}
{"id": "HP:0033557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-proteinase 3 antibody positivity", "equivalent_identifiers": ["HP:0033557", "UMLS:C5539682"], "information_content": 100.0}
{"id": "HP:0034104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-neutrophil elastase antibody positivity", "equivalent_identifiers": ["HP:0034104", "UMLS:C5676700"], "information_content": 100.0}
{"id": "HP:6000070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin Granuloma", "equivalent_identifiers": ["HP:6000070", "NCIT:C36195", "UMLS:C0151684", "MEDDRA:10018698", "MEDDRA:10040857"], "information_content": 100.0}
{"id": "MONDO:0015908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromomycosis", "equivalent_identifiers": ["MONDO:0015908", "DOID:1562", "orphanet:182", "EFO:0007207", "UMLS:C0008582", "MESH:D002862", "MEDDRA:10008803", "SNOMEDCT:187079000", "medgen:3434", "icd11.foundation:1438584733", "ICD10:B43.9", "ICD9:117.2"], "information_content": 100.0}
{"id": "HP:0011334", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial shape deformation", "equivalent_identifiers": ["HP:0011334", "UMLS:C4021159"], "information_content": 95.4}
{"id": "MONDO:0016759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 2", "equivalent_identifiers": ["MONDO:0016759", "DOID:0112328", "orphanet:2524", "UMLS:C2932714", "MESH:C548070", "NCIT:C124057", "SNOMEDCT:715463008", "medgen:420956", "icd11.foundation:1158649247"], "information_content": 88.2}
{"id": "MONDO:0015348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy with bilateral anterior temporal lobe cysts", "equivalent_identifiers": ["MONDO:0015348", "orphanet:139444", "UMLS:C4304744", "SNOMEDCT:719403003", "medgen:930413", "icd11.foundation:138159250"], "information_content": 100.0}
{"id": "MONDO:0016760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-microcornea syndrome, Seemanova type", "equivalent_identifiers": ["MONDO:0016760", "orphanet:2528", "UMLS:C2931524", "MESH:C537536", "MESH:C537539", "SNOMEDCT:715464002", "medgen:419433", "icd11.foundation:1197077842"], "information_content": 100.0}
{"id": "MONDO:0016750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Halal syndrome", "equivalent_identifiers": ["MONDO:0016750", "orphanet:2521", "UMLS:C2930954", "MESH:C535622", "SNOMEDCT:719394002", "medgen:419293"], "information_content": 100.0}
{"id": "MONDO:0016758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-brain defect-spasticity-hypernatremia syndrome", "equivalent_identifiers": ["MONDO:0016758", "orphanet:2523", "UMLS:C4749368", "SNOMEDCT:770655004", "medgen:1668792"], "information_content": 100.0}
{"id": "HP:0007100", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive ventriculomegaly", "equivalent_identifiers": ["HP:0007100", "UMLS:C1865119"], "information_content": 100.0}
{"id": "HP:0430021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal common carotid artery morphology", "equivalent_identifiers": ["HP:0430021", "UMLS:C4073203"], "information_content": 89.4}
{"id": "MONDO:0007988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant primary microcephaly", "equivalent_identifiers": ["MONDO:0007988", "DOID:0061100", "DOID:14725", "OMIM:156580", "orphanet:2514", "UMLS:C0220693", "MESH:C537323", "medgen:66319", "icd11.foundation:774437947"], "information_content": 90.9}
{"id": "MONDO:0016719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-seizures-intellectual disability-heart disease syndrome", "equivalent_identifiers": ["MONDO:0016719", "orphanet:2519", "UMLS:C2931529", "MESH:C537544", "medgen:419830"], "information_content": 100.0}
{"id": "MONDO:0016649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome", "equivalent_identifiers": ["MONDO:0016649", "DOID:0060237", "OMIM.PS:600118", "orphanet:2510", "UMLS:C5442005", "SNOMEDCT:772224009", "medgen:1781286"], "information_content": 89.4}
{"id": "HP:0010663", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal thalamus morphology", "equivalent_identifiers": ["HP:0010663", "UMLS:C4021243"], "information_content": 82.1}
{"id": "MONDO:0016660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive primary microcephaly", "equivalent_identifiers": ["MONDO:0016660", "DOID:0070296", "OMIM.PS:251200", "orphanet:2512", "UMLS:C3711387", "MESH:C579935", "SNOMEDCT:715981004", "medgen:777995"], "information_content": 77.1}
{"id": "MONDO:0044700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SIN3A-related intellectual disability syndrome due to a point mutation", "equivalent_identifiers": ["MONDO:0044700", "orphanet:500166", "UMLS:C4310804", "SNOMEDCT:1187122000", "medgen:934771"], "information_content": 100.0}
{"id": "HP:0032059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild malformation of cortical development", "equivalent_identifiers": ["HP:0032059", "UMLS:C4732830"], "information_content": 100.0}
{"id": "MONDO:0035345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic bilirubin encephalopathy", "equivalent_identifiers": ["MONDO:0035345", "orphanet:529808", "UMLS:C5575229", "SNOMEDCT:1197758001", "medgen:1806573"], "information_content": 100.0}
{"id": "HP:0025518", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Visual gaze preference", "equivalent_identifiers": ["HP:0025518", "UMLS:C4476823"], "information_content": 100.0}
{"id": "MONDO:0009599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal dysostosis-intellectual disability-conductive deafness syndrome", "equivalent_identifiers": ["MONDO:0009599", "OMIM:250420", "orphanet:2502", "UMLS:C1855175", "MESH:C565396", "medgen:344437"], "information_content": 100.0}
{"id": "MONDO:0007990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple benign circumferential skin creases on limbs", "equivalent_identifiers": ["MONDO:0007990", "DOID:0112241", "orphanet:2505", "UMLS:C0473586", "MESH:C537575", "SNOMEDCT:239142006", "medgen:96881"], "information_content": 92.8}
{"id": "HP:0007522", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased number of skin folds", "equivalent_identifiers": ["HP:0007522", "UMLS:C4024853"], "information_content": 100.0}
{"id": "MONDO:0019846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acquired CDI", "equivalent_identifiers": ["MONDO:0019846", "orphanet:95626", "UMLS:C5680256", "medgen:1843437", "icd11.foundation:1677009817"], "information_content": 100.0}
{"id": "orphanet:276399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial multinodular goiter", "equivalent_identifiers": ["orphanet:276399"]}
{"id": "MONDO:0002696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sertoli cell tumor", "equivalent_identifiers": ["MONDO:0002696", "DOID:3577", "UMLS:C0036769", "UMLS:C4020704", "MESH:D012707", "NCIT:C39976", "SNOMEDCT:89089007", "medgen:11387", "HP:0100619"], "information_content": 83.6}
{"id": "MONDO:0003144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medulloepithelioma", "equivalent_identifiers": ["MONDO:0003144", "DOID:4790", "UMLS:C0334596", "UMLS:C5231013", "NCIT:C4327", "NCIT:C66808", "SNOMEDCT:39005004", "SNOMEDCT:715903004", "SNOMEDCT:818967003", "medgen:1702218", "icd11.foundation:1078680756", "HP:0030071"], "information_content": 100.0}
{"id": "MONDO:0008716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrogeria", "equivalent_identifiers": ["MONDO:0008716", "OMIM:201200", "orphanet:2500", "UMLS:C0238590", "UMLS:C0406584", "MESH:C538187", "SNOMEDCT:238871000", "SNOMEDCT:238872007", "medgen:96063", "icd11.foundation:1607996977"], "information_content": 100.0}
{"id": "MONDO:0100133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex I deficiency", "equivalent_identifiers": ["MONDO:0100133", "DOID:0060536", "orphanet:2609", "UMLS:C1838979", "MESH:C537475", "SNOMEDCT:237988006", "medgen:374101"], "information_content": 75.2}
{"id": "HP:0012748", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal T2 hyperintense brainstem lesion", "equivalent_identifiers": ["HP:0012748", "UMLS:C4022748"], "information_content": 100.0}
{"id": "MONDO:0035777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parenteral nutrition-associated cholestasis", "equivalent_identifiers": ["MONDO:0035777", "orphanet:567983", "UMLS:C3274301", "MEDDRA:10074152", "NCIT:C98619", "medgen:475934", "icd11.foundation:1572634308"], "information_content": 100.0}
{"id": "HP:0011113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of cytokine secretion", "equivalent_identifiers": ["HP:0011113", "UMLS:C4023534", "MP:0003009"], "information_content": 70.4}
{"id": "HP:0032245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metabolism", "equivalent_identifiers": ["HP:0032245", "UMLS:C5139220"], "information_content": 67.1}
{"id": "HP:0010824", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fifth cranial nerve morphology", "equivalent_identifiers": ["HP:0010824", "UMLS:C4021226"], "information_content": 95.4}
{"id": "HP:0020041", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Double elevator palsy", "equivalent_identifiers": ["HP:0020041", "UMLS:C0339643", "SNOMEDCT:232109006", "MESH:C000721287"], "information_content": 100.0}
{"id": "HP:0031747", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Superior rectus muscle underaction", "equivalent_identifiers": ["HP:0031747", "UMLS:C4703722"], "information_content": 100.0}
{"id": "HP:0005190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proximal finger joint hyperextensibility", "equivalent_identifiers": ["HP:0005190", "UMLS:C4025242"], "information_content": 100.0}
{"id": "MONDO:0007477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-M syndrome", "equivalent_identifiers": ["MONDO:0007477", "DOID:0060241", "OMIM.PS:273750", "orphanet:2616", "UMLS:C1848862", "MESH:C535314", "MEDDRA:10081775", "SNOMEDCT:702342007", "medgen:336440"], "information_content": 90.9}
{"id": "MONDO:0019627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated congenital alacrima", "equivalent_identifiers": ["MONDO:0019627", "orphanet:91416", "UMLS:C4273963", "SNOMEDCT:717262004", "medgen:896261"], "information_content": 92.8}
{"id": "HP:0031249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parageusia", "equivalent_identifiers": ["HP:0031249", "EFO:1001758", "NCIT:C116374", "NCIT:C28145", "UMLS:C0013378", "UMLS:C0240327", "UMLS:C2364111", "MEDDRA:10001480", "MEDDRA:10013911", "MEDDRA:10024878", "MEDDRA:10033793", "MEDDRA:10043123", "MEDDRA:10043124", "MEDDRA:10043125", "MEDDRA:10043129", "MEDDRA:10043132", "MEDDRA:10043134", "MEDDRA:10043135", "MEDDRA:10043137", "SNOMEDCT:11193009", "SNOMEDCT:271801002", "SNOMEDCT:36955009", "MESH:D000370", "MESH:D004408"], "information_content": 95.4}
{"id": "HP:0034004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parosmia", "equivalent_identifiers": ["HP:0034004", "NCIT:C116370", "NCIT:C86949", "UMLS:C0235287", "UMLS:C1510410", "MEDDRA:10001853", "MEDDRA:10013939", "MEDDRA:10013940", "MEDDRA:10034018", "MEDDRA:10034741", "MEDDRA:10041215", "MEDDRA:10041216", "MEDDRA:10041218", "MEDDRA:10042165", "SNOMEDCT:112105008", "SNOMEDCT:708673009"], "information_content": 100.0}
{"id": "HP:0030221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sweet craving", "equivalent_identifiers": ["HP:0030221", "UMLS:C0241314"], "information_content": 100.0}
{"id": "HP:0031217", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hot flashes", "equivalent_identifiers": ["HP:0031217", "NCIT:C3109", "UMLS:C0600142", "MEDDRA:10016350", "MEDDRA:10016752", "MEDDRA:10016820", "MEDDRA:10020407", "MEDDRA:10020408", "MEDDRA:10020411", "MEDDRA:10020413", "MEDDRA:10020417", "MEDDRA:10027301", "MEDDRA:10027311", "MEDDRA:10060800", "SNOMEDCT:198436008", "SNOMEDCT:427368007", "MESH:D019584"], "information_content": 100.0}
{"id": "HP:0046504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased libido", "equivalent_identifiers": ["HP:0046504", "NCIT:C78432", "UMLS:C0011124", "MEDDRA:10024419", "MEDDRA:10040465", "MEDDRA:10040481", "MEDDRA:10059272", "SNOMEDCT:8357008"], "information_content": 92.8}
{"id": "HP:5200218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Derealization", "equivalent_identifiers": ["HP:5200218", "NCIT:C54271", "UMLS:C0233754", "MEDDRA:10012422", "MEDDRA:10016369", "MEDDRA:10054371", "SNOMEDCT:40806005"], "information_content": 100.0}
{"id": "MONDO:0016831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "linear verrucous nevus syndrome", "equivalent_identifiers": ["MONDO:0016831", "orphanet:2611", "UMLS:C5679838", "SNOMEDCT:1231148002", "medgen:1806291"], "information_content": 90.9}
{"id": "HP:0040287", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axial muscle atrophy", "equivalent_identifiers": ["HP:0040287", "UMLS:C4477031"], "information_content": 100.0}
{"id": "MONDO:0850100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "body integrity dysphoria", "equivalent_identifiers": ["MONDO:0850100", "orphanet:623789", "UMLS:C4546282", "SNOMEDCT:762532001", "medgen:1626910", "icd11.foundation:256572629"], "information_content": 100.0}
{"id": "MONDO:0023188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Freiberg disease", "equivalent_identifiers": ["MONDO:0023188", "orphanet:564003", "UMLS:C0264099", "MESH:C535636", "MEDDRA:10054042", "SNOMEDCT:28466007", "medgen:75532", "icd11.foundation:74359553"], "information_content": 100.0}
{"id": "HP:0010630", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metatarsal epiphysis morphology", "equivalent_identifiers": ["HP:0010630", "UMLS:C4021248"], "information_content": 84.2}
{"id": "HP:0040034", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the second metatarsal bone", "equivalent_identifiers": ["HP:0040034", "UMLS:C4022479"], "information_content": 92.8}
{"id": "HP:0100039", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thickened cortex of bones", "equivalent_identifiers": ["HP:0100039", "UMLS:C4022382"], "information_content": 83.1}
{"id": "HP:0100662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chondritis", "equivalent_identifiers": ["HP:0100662", "UMLS:C0008439", "UMLS:C1285334", "MEDDRA:10008685", "SNOMEDCT:363173007", "SNOMEDCT:46176001"], "information_content": 92.8}
{"id": "HP:0100925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerosis of foot bone", "equivalent_identifiers": ["HP:0100925", "UMLS:C4020931"], "information_content": 73.9}
{"id": "HP:0010672", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the third metatarsal bone", "equivalent_identifiers": ["HP:0010672", "UMLS:C4023748"], "information_content": 92.8}
{"id": "HP:0040035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the fourth metatarsal bone", "equivalent_identifiers": ["HP:0040035", "UMLS:C4022478"], "information_content": 92.8}
{"id": "MONDO:0016829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial visceral myopathy", "equivalent_identifiers": ["MONDO:0016829", "orphanet:2604", "UMLS:C0266833", "MESH:C562574", "SNOMEDCT:63684002", "medgen:120590", "icd11.foundation:1838806574"], "information_content": 95.4}
{"id": "orphanet:2608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "N syndrome", "equivalent_identifiers": ["orphanet:2608"]}
{"id": "HP:0005517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-cell lymphoma/leukemia", "equivalent_identifiers": ["HP:0005517", "UMLS:C4025186"], "information_content": 100.0}
{"id": "MONDO:0013393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 7q11.23 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0013393", "OMIM:613729", "orphanet:254351", "UMLS:C3150999", "medgen:462349"], "information_content": 100.0}
{"id": "MONDO:0017782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and speech delay due to SOX5 deficiency", "equivalent_identifiers": ["MONDO:0017782", "orphanet:313892", "UMLS:C4749915", "SNOMEDCT:771472009", "medgen:1660895"], "information_content": 100.0}
{"id": "MONDO:0007527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, periodontitis type", "equivalent_identifiers": ["MONDO:0007527", "orphanet:75392", "UMLS:C0268347", "MESH:C562626", "SNOMEDCT:50869007", "medgen:82791", "icd11.foundation:893527307"], "information_content": 92.8}
{"id": "MONDO:0017869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroectodermal dysplasia with night blindness", "equivalent_identifiers": ["MONDO:0017869", "orphanet:319195", "UMLS:C4706300", "SNOMEDCT:763134002", "medgen:1641815"], "information_content": 100.0}
{"id": "HP:0030055", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperconvex toenail", "equivalent_identifiers": ["HP:0030055", "UMLS:C4022661"], "information_content": 100.0}
{"id": "MONDO:0015339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenomyeloneuropathy", "equivalent_identifiers": ["MONDO:0015339", "orphanet:139399", "UMLS:C1527231", "MEDDRA:10088201", "SNOMEDCT:1269423000", "SNOMEDCT:65389002", "medgen:315918", "icd11.foundation:1214673956"], "information_content": 100.0}
{"id": "HP:0007372", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy/Degeneration involving the corticospinal tracts", "equivalent_identifiers": ["HP:0007372", "UMLS:C4024897"], "information_content": 92.8}
{"id": "HP:0100816", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lip hyperpigmentation", "equivalent_identifiers": ["HP:0100816", "UMLS:C4021963"], "information_content": 100.0}
{"id": "MONDO:0010247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cerebral adrenoleukodystrophy", "equivalent_identifiers": ["MONDO:0010247", "orphanet:139396", "UMLS:C2026514", "medgen:1708324", "icd11.foundation:1105019687"], "information_content": 100.0}
{"id": "HP:0012501", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal brainstem white matter morphology", "equivalent_identifiers": ["HP:0012501", "UMLS:C4022876"], "information_content": 78.0}
{"id": "MONDO:0017934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0017934", "orphanet:324540", "UMLS:C4751006", "SNOMEDCT:773583007", "medgen:1651057"], "information_content": 100.0}
{"id": "HP:0009537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flexion contracture of the 2nd finger", "equivalent_identifiers": ["HP:0009537", "UMLS:C4021452"], "information_content": 90.9}
{"id": "HP:0010193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of distal phalanx of toe", "equivalent_identifiers": ["HP:0010193", "UMLS:C4021322"], "information_content": 84.8}
{"id": "MONDO:0019153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain malformation-congenital heart disease-postaxial polydactyly syndrome", "equivalent_identifiers": ["MONDO:0019153", "orphanet:75389", "UMLS:C4303545", "SNOMEDCT:717943008", "medgen:929214"], "information_content": 100.0}
{"id": "MONDO:0018823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome", "equivalent_identifiers": ["MONDO:0018823", "orphanet:480907"], "information_content": 100.0}
{"id": "MONDO:0016765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "19p13.12 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016765", "orphanet:254346", "UMLS:C4304579", "SNOMEDCT:719597005", "medgen:930248"], "information_content": 100.0}
{"id": "MONDO:0018063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular non-suppurative panniculitis", "equivalent_identifiers": ["MONDO:0018063", "DOID:1525", "orphanet:33577", "EFO:1000742", "UMLS:C0030328", "MESH:D010201", "MEDDRA:10047883", "NCIT:C197537", "SNOMEDCT:33760009", "medgen:10559", "ICD10:M35.6"], "information_content": 100.0}
{"id": "MONDO:0018864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kikuchi-Fujimoto disease", "equivalent_identifiers": ["MONDO:0018864", "orphanet:50918", "UMLS:C0398367", "MESH:D020042", "MEDDRA:10069070", "MEDDRA:10069071", "MEDDRA:10069082", "MEDDRA:10075722", "MEDDRA:10075723", "NCIT:C71719", "SNOMEDCT:127217009", "medgen:97979"], "information_content": 100.0}
{"id": "MONDO:0018669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Snake Bites", "equivalent_identifiers": ["MONDO:0018669", "orphanet:449285", "UMLS:C0037379", "MESH:D012909", "SNOMEDCT:61288004"], "information_content": 100.0}
{"id": "MONDO:0018668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scedosporiosis", "equivalent_identifiers": ["MONDO:0018668", "orphanet:449280", "UMLS:C1142170", "MESH:C000656924", "MEDDRA:10059045", "SNOMEDCT:1217227009", "medgen:1713603", "icd11.foundation:807637046"], "information_content": 100.0}
{"id": "HP:0032255", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opportunistic fungal infection", "equivalent_identifiers": ["HP:0032255", "UMLS:C5139224"], "information_content": 86.3}
{"id": "HP:0005265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal jejunum morphology", "equivalent_identifiers": ["HP:0005265", "UMLS:C4025224"], "information_content": 83.6}
{"id": "HP:0031994", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bronchial breath sound", "equivalent_identifiers": ["HP:0031994", "UMLS:C0231873", "SNOMEDCT:79451004"], "information_content": 100.0}
{"id": "MONDO:0006764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fungal meningitis", "equivalent_identifiers": ["MONDO:0006764", "DOID:11608", "EFO:1000942", "UMLS:C0085438", "MESH:D016921", "MEDDRA:10017538", "MEDDRA:10027236", "MEDDRA:10027238", "SNOMEDCT:24321005", "medgen:39285", "icd11.foundation:1137081791", "HP:0032159"], "information_content": 92.8}
{"id": "HP:0032176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apical pulmonary opacity", "equivalent_identifiers": ["HP:0032176", "UMLS:C5139173"], "information_content": 100.0}
{"id": "HP:0030179", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal peripheral action potential amplitude", "equivalent_identifiers": ["HP:0030179", "UMLS:C4022596"], "information_content": 88.2}
{"id": "HP:0010827", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal seventh cranial physiology", "equivalent_identifiers": ["HP:0010827", "UMLS:C4021223"], "information_content": 81.7}
{"id": "HP:0011014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal glucose homeostasis", "equivalent_identifiers": ["HP:0011014", "UMLS:C4023598"], "information_content": 70.5}
{"id": "HP:0410262", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower cranial nerve dysfunction", "equivalent_identifiers": ["HP:0410262", "UMLS:C5139436"], "information_content": 100.0}
{"id": "MONDO:0008960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008960", "OMIM:214370", "orphanet:90103", "UMLS:C1861669", "MESH:C538078", "SNOMEDCT:715666007", "medgen:348419"], "information_content": 100.0}
{"id": "MONDO:0017936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign Samaritan congenital myopathy", "equivalent_identifiers": ["MONDO:0017936", "orphanet:324581", "UMLS:C4749502", "SNOMEDCT:770787005", "medgen:1666762"], "information_content": 100.0}
{"id": "HP:0012011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with occipital focal spike waves", "equivalent_identifiers": ["HP:0012011", "UMLS:C4023080"], "information_content": 100.0}
{"id": "MONDO:0016162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral frontal polymicrogyria", "equivalent_identifiers": ["MONDO:0016162", "DOID:0080921", "orphanet:208444", "UMLS:C5437679", "SNOMEDCT:890285006", "medgen:1754014", "icd11.foundation:688947844"], "information_content": 95.4}
{"id": "MONDO:0017935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism due to HNF1A deficiency", "equivalent_identifiers": ["MONDO:0017935", "orphanet:324575", "UMLS:C4303475", "SNOMEDCT:721234004", "medgen:929144"], "information_content": 100.0}
{"id": "HP:0031084", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Excessive insulin response to glucagon test", "equivalent_identifiers": ["HP:0031084", "UMLS:C4476963"], "information_content": 100.0}
{"id": "MONDO:0020693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to liver phosphorylase kinase deficiency", "equivalent_identifiers": ["MONDO:0020693", "orphanet:264580", "UMLS:C2012260", "medgen:453209"], "information_content": 92.8}
{"id": "HP:0030232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased sarcoplasmic glycogen", "equivalent_identifiers": ["HP:0030232", "UMLS:C4022566"], "information_content": 100.0}
{"id": "HP:0011739", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dexamethasone-suppressible primary hyperaldosteronism", "equivalent_identifiers": ["HP:0011739", "UMLS:C4020743", "UMLS:C4020744", "UMLS:C4023209"], "information_content": 100.0}
{"id": "MONDO:0013907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral generalized polymicrogyria", "equivalent_identifiers": ["MONDO:0013907", "DOID:0080920", "orphanet:208447", "UMLS:C5139324", "SNOMEDCT:890287003", "medgen:1684616", "HP:0032410"], "information_content": 100.0}
{"id": "MONDO:0024609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0024609", "DOID:2101", "orphanet:494448", "EFO:1000624", "UMLS:C0280856", "MEDDRA:10041875", "NCIT:C4052", "SNOMEDCT:254895003", "medgen:79201", "icd11.foundation:146824338", "HP:0030417"], "information_content": 79.9}
{"id": "HP:0006486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dental root morphology", "equivalent_identifiers": ["HP:0006486", "UMLS:C1291070", "UMLS:C4025041", "SNOMEDCT:110333006"], "information_content": 82.1}
{"id": "HP:0006282", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized hypoplasia of dental enamel", "equivalent_identifiers": ["HP:0006282", "UMLS:C4025070", "UMLS:C4280462"], "information_content": 100.0}
{"id": "MONDO:0013090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 19q13.11 deletion syndrome", "equivalent_identifiers": ["MONDO:0013090", "DOID:0060408", "orphanet:217346", "UMLS:C2751651", "UMLS:C4304577", "MESH:C567810", "SNOMEDCT:719599008", "medgen:414432"], "information_content": 92.8}
{"id": "MONDO:0019506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0019506", "orphanet:88643", "UMLS:C4302879", "SNOMEDCT:722051004", "medgen:928548"], "information_content": 100.0}
{"id": "MONDO:0013298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17q21.31 duplication syndrome", "equivalent_identifiers": ["MONDO:0013298", "DOID:0060434", "OMIM:613533", "orphanet:217340", "UMLS:C4274345", "SNOMEDCT:716683005", "medgen:901723"], "information_content": 100.0}
{"id": "MONDO:0015634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated osteopoikilosis", "equivalent_identifiers": ["MONDO:0015634", "orphanet:166119", "UMLS:C1833699", "MESH:C563484", "SNOMEDCT:1231182008", "medgen:318940"], "information_content": 100.0}
{"id": "HP:0040068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of limb bone", "equivalent_identifiers": ["HP:0040068", "UMLS:C4022456"], "information_content": 46.8}
{"id": "HP:0004289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic foci in hand bones", "equivalent_identifiers": ["HP:0004289", "UMLS:C4025367"], "information_content": 100.0}
{"id": "HP:0004240", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic foci within carpal bones", "equivalent_identifiers": ["HP:0004240", "UMLS:C4025398", "UMLS:C4280535"], "information_content": 100.0}
{"id": "HP:0031051", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tarsal sclerosis", "equivalent_identifiers": ["HP:0031051", "UMLS:C4476932"], "information_content": 95.4}
{"id": "MONDO:0035173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "9q21.13 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0035173", "orphanet:531151", "UMLS:C5681312", "SNOMEDCT:1229875002", "medgen:1803709"], "information_content": 100.0}
{"id": "MONDO:0017727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fixed subaortic stenosis", "equivalent_identifiers": ["MONDO:0017727", "orphanet:3092", "UMLS:C0265853", "SNOMEDCT:8712002", "medgen:539538", "icd11.foundation:1471062257"], "information_content": 92.8}
{"id": "MONDO:0017735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital aortic valve stenosis", "equivalent_identifiers": ["MONDO:0017735", "orphanet:3093", "UMLS:C0152417", "UMLS:C0265890", "MEDDRA:10002908", "MEDDRA:10002919", "MEDDRA:10010369", "MEDDRA:10010371", "MEDDRA:10010636", "NCIT:C197885", "SNOMEDCT:18546004", "SNOMEDCT:21234008", "medgen:509030", "icd11.foundation:1824398514"], "information_content": 92.8}
{"id": "HP:0030850", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulse pressure", "equivalent_identifiers": ["HP:0030850", "UMLS:C0855322", "MEDDRA:10037478", "MEDDRA:10037479"], "information_content": 83.1}
{"id": "MONDO:0018495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome", "equivalent_identifiers": ["MONDO:0018495", "orphanet:423479", "UMLS:C4517296", "SNOMEDCT:732246009", "medgen:1374000"], "information_content": 100.0}
{"id": "HP:0030927", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1-minute APGAR score of 0", "equivalent_identifiers": ["HP:0030927", "UMLS:C4476857"], "information_content": 100.0}
{"id": "MONDO:0017746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical Rett syndrome", "equivalent_identifiers": ["MONDO:0017746", "orphanet:3095", "UMLS:C2748910", "MESH:C567576", "SNOMEDCT:718393002", "medgen:440664", "icd11.foundation:605088126"], "information_content": 92.8}
{"id": "MONDO:0019929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "49,XXXXY syndrome", "equivalent_identifiers": ["MONDO:0019929", "orphanet:96264", "UMLS:C0265499", "NCIT:C185635", "SNOMEDCT:38847009", "medgen:75573"], "information_content": 100.0}
{"id": "MONDO:0019928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "XXXY syndrome", "equivalent_identifiers": ["MONDO:0019928", "orphanet:96263", "UMLS:C0265498", "MEDDRA:10048228", "NCIT:C89799", "SNOMEDCT:78317008", "medgen:452344"], "information_content": 100.0}
{"id": "orphanet:88637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome", "equivalent_identifiers": ["orphanet:88637"]}
{"id": "MONDO:0017767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rheumatic fever", "equivalent_identifiers": ["MONDO:0017767", "DOID:1586", "orphanet:3099", "EFO:1001160", "UMLS:C0035436", "UMLS:C0264743", "MESH:D012213", "MEDDRA:10001060", "MEDDRA:10039054", "MEDDRA:10072738", "MEDDRA:10075557", "NCIT:C34984", "SNOMEDCT:195528001", "SNOMEDCT:24363009", "SNOMEDCT:58718002", "SNOMEDCT:81077008", "medgen:48448", "ICD10:I00", "ICD10:I00-I02", "ICD9:390", "ICD9:390-392.99"], "information_content": 100.0}
{"id": "MONDO:0019518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg-Shah syndrome", "equivalent_identifiers": ["MONDO:0019518", "orphanet:897", "NCIT:C124842", "icd11.foundation:1420151003"], "information_content": 90.9}
{"id": "MONDO:0015681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood disintegrative disorder", "equivalent_identifiers": ["MONDO:0015681", "DOID:13487", "orphanet:168782", "UMLS:C0236791", "MEDDRA:10008522", "MEDDRA:10012287", "MEDDRA:10013143", "MEDDRA:10019379", "MEDDRA:10037238", "NCIT:C97164", "SNOMEDCT:71961003", "medgen:472967", "icd11.foundation:1460615954", "ICD10:F84.3", "ICD9:299.1"], "information_content": 100.0}
{"id": "HP:0100851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal emotional state", "equivalent_identifiers": ["HP:0100851", "UMLS:C4020949", "MEDDRA:10091217"], "information_content": 72.3}
{"id": "MONDO:0000171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy, type A", "equivalent_identifiers": ["MONDO:0000171", "DOID:0050560", "OMIM.PS:236670", "orphanet:899", "UMLS:C0265221", "MESH:D058494", "NCIT:C99109", "SNOMEDCT:111504002", "medgen:75553"], "information_content": 82.1}
{"id": "HP:0001460", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving the skeletal musculature", "equivalent_identifiers": ["HP:0001460", "UMLS:C4025773"], "information_content": 75.2}
{"id": "HP:0012400", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating aldolase concentration", "equivalent_identifiers": ["HP:0012400", "UMLS:C4022916"], "information_content": 92.8}
{"id": "MONDO:0017682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-polydactyly-uncombable hair syndrome", "equivalent_identifiers": ["MONDO:0017682", "orphanet:3082", "UMLS:C2931547", "MESH:C537615", "SNOMEDCT:763742008", "medgen:444082"], "information_content": 100.0}
{"id": "MONDO:0009983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome", "equivalent_identifiers": ["MONDO:0009983", "OMIM:268020", "orphanet:3085", "UMLS:C1849401", "MESH:C564841", "medgen:340317"], "information_content": 100.0}
{"id": "HP:0045010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal peripheral nerve morphology by anatomical site", "equivalent_identifiers": ["HP:0045010", "UMLS:C4022400", "UMLS:C5826837"], "information_content": 61.3}
{"id": "MONDO:0016506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopic aldosterone-producing tumor", "equivalent_identifiers": ["MONDO:0016506", "orphanet:231632", "UMLS:C4755311", "SNOMEDCT:778064009", "medgen:1654612"], "information_content": 100.0}
{"id": "orphanet:3088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Revesz syndrome", "equivalent_identifiers": ["orphanet:3088"]}
{"id": "HP:0430048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intracranial calcification", "equivalent_identifiers": ["HP:0430048", "UMLS:C5886739", "MEDDRA:10090912"], "information_content": 78.8}
{"id": "MONDO:0017668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-short stature-hypertelorism syndrome", "equivalent_identifiers": ["MONDO:0017668", "orphanet:3074", "UMLS:C4749650", "SNOMEDCT:771077007", "medgen:1665709"], "information_content": 100.0}
{"id": "HP:0010901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating methionine concentration", "equivalent_identifiers": ["HP:0010901", "UMLS:C4023665"], "information_content": 88.2}
{"id": "HP:0010919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating homocysteine concentration", "equivalent_identifiers": ["HP:0010919", "UMLS:C4023651"], "information_content": 83.6}
{"id": "HP:0011887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Choroid hemorrhage", "equivalent_identifiers": ["HP:0011887", "NCIT:C187280", "UMLS:C0008522", "MEDDRA:10008786", "MEDDRA:10008789", "MEDDRA:10055239", "MEDDRA:10055765", "MEDDRA:10071800", "SNOMEDCT:122003", "MESH:D002832"], "information_content": 100.0}
{"id": "MONDO:0025514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "livedoid vasculopathy", "equivalent_identifiers": ["MONDO:0025514", "DOID:0040099", "orphanet:542643", "UMLS:C0343081", "MESH:D000090122", "MEDDRA:10024651", "SNOMEDCT:238762002", "medgen:575376", "icd11.foundation:1237292304", "ICD10:L95.0", "ICD9:709.1"], "information_content": 100.0}
{"id": "HP:0025016", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal capillary morphology", "equivalent_identifiers": ["HP:0025016", "UMLS:C4293698"], "information_content": 89.4}
{"id": "HP:0040224", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of fibrinolysis", "equivalent_identifiers": ["HP:0040224", "UMLS:C4280719"], "information_content": 84.8}
{"id": "HP:0040248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced plasminogen activator inhibitor 1 activity", "equivalent_identifiers": ["HP:0040248", "UMLS:C4280700"], "information_content": 100.0}
{"id": "HP:0005486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Small fontanelle", "equivalent_identifiers": ["HP:0005486", "UMLS:C0456133", "UMLS:C4072854", "UMLS:C4072855", "MEDDRA:10082319", "MEDDRA:10082320", "SNOMEDCT:276710001"], "information_content": 92.8}
{"id": "MONDO:0009584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, Buenos-Aires type", "equivalent_identifiers": ["MONDO:0009584", "OMIM:249630", "orphanet:3079", "UMLS:C0796080", "MESH:C563095", "MEDDRA:10089183", "MEDDRA:10089184", "SNOMEDCT:725906006", "medgen:167102"], "information_content": 100.0}
{"id": "HP:0008425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cuboid-shaped thoracolumbar vertebral bodies", "equivalent_identifiers": ["HP:0008425", "UMLS:C1855289"], "information_content": 100.0}
{"id": "MONDO:0025193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngodistal myopathy", "equivalent_identifiers": ["MONDO:0025193", "DOID:0081296", "OMIM.PS:164310", "orphanet:98897", "UMLS:C1834014", "MESH:C563508", "SNOMEDCT:763829004", "medgen:320250", "icd11.foundation:1493269618"], "information_content": 89.4}
{"id": "HP:0000301", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of facial musculature", "equivalent_identifiers": ["HP:0000301", "UMLS:C4025865"], "information_content": 70.7}
{"id": "HP:3000005", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of masseter muscle", "equivalent_identifiers": ["HP:3000005", "UMLS:C4073214"], "information_content": 90.9}
{"id": "MONDO:0019490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial heart block", "equivalent_identifiers": ["MONDO:0019490", "DOID:0111073", "OMIM.PS:113900", "orphanet:871", "SNOMEDCT:698249005"], "information_content": 90.9}
{"id": "MONDO:0017867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 17p13.1 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0017867", "orphanet:319171", "UMLS:C4749349", "SNOMEDCT:770629000", "medgen:1657963"], "information_content": 100.0}
{"id": "MONDO:0017933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation", "equivalent_identifiers": ["MONDO:0017933", "orphanet:324525", "UMLS:C4749942", "SNOMEDCT:771509001", "medgen:1650300"], "information_content": 100.0}
{"id": "HP:0011956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intestinal lymphoid nodular hyperplasia", "equivalent_identifiers": ["HP:0011956", "UMLS:C4023109"], "information_content": 100.0}
{"id": "orphanet:867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial multiple trichoepithelioma", "equivalent_identifiers": ["orphanet:867"]}
{"id": "MONDO:0009671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-myopathy-short stature-endocrine defect syndrome", "equivalent_identifiers": ["MONDO:0009671", "OMIM:253320", "orphanet:3068", "UMLS:C1854663", "MESH:C535458", "SNOMEDCT:764959000", "medgen:381471"], "information_content": 100.0}
{"id": "HP:0010486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the hypothenar eminence", "equivalent_identifiers": ["HP:0010486", "UMLS:C4023807"], "information_content": 95.4}
{"id": "MONDO:0019444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichinellosis", "equivalent_identifiers": ["MONDO:0019444", "DOID:9784", "orphanet:863", "EFO:0007520", "UMLS:C0040896", "MESH:D014235", "MEDDRA:10044608", "MEDDRA:10044609", "NCIT:C85199", "SNOMEDCT:709018004", "medgen:21645", "icd11.foundation:284613639", "ICD10:B75", "ICD9:124"], "information_content": 95.4}
{"id": "HP:0000553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal uvea morphology", "equivalent_identifiers": ["HP:0000553", "UMLS:C4025842"], "information_content": 66.1}
{"id": "MONDO:0019443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dextro-looped transposition of the great arteries", "equivalent_identifiers": ["MONDO:0019443", "DOID:0060770", "orphanet:860", "UMLS:C5671327", "medgen:1812310", "ICD10:Q20.3"], "information_content": 89.4}
{"id": "HP:0011028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of blood circulation", "equivalent_identifiers": ["HP:0011028", "UMLS:C4020760", "UMLS:C4023585"], "information_content": 66.7}
{"id": "HP:0011563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ventriculoarterial connection", "equivalent_identifiers": ["HP:0011563", "UMLS:C2959359", "UMLS:C4023296", "SNOMEDCT:253295000"], "information_content": 78.5}
{"id": "MONDO:0019152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oguchi disease", "equivalent_identifiers": ["MONDO:0019152", "orphanet:75382", "UMLS:C1306122", "MESH:C537743", "medgen:224927", "icd11.foundation:1759055065"], "information_content": 92.8}
{"id": "MONDO:0010652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-seizures-psoriasis syndrome", "equivalent_identifiers": ["MONDO:0010652", "OMIM:309480", "orphanet:3052", "UMLS:C2931381", "UMLS:C3501539", "MESH:C536978", "MESH:C564107", "SNOMEDCT:719810000", "medgen:501947"], "information_content": 100.0}
{"id": "MONDO:0020470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "49,XYYYY syndrome", "equivalent_identifiers": ["MONDO:0020470", "orphanet:99330", "UMLS:C4518342", "SNOMEDCT:734028007", "medgen:1384259"], "information_content": 100.0}
{"id": "HP:0003946", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the epiphyses of the elbow", "equivalent_identifiers": ["HP:0003946", "UMLS:C4025488"], "information_content": 77.3}
{"id": "HP:0004237", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large carpal bones", "equivalent_identifiers": ["HP:0004237", "UMLS:C4021671"], "information_content": 89.4}
{"id": "HP:0011310", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bridged palmar crease", "equivalent_identifiers": ["HP:0011310", "UMLS:C4021166"], "information_content": 100.0}
{"id": "MONDO:0015793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "moderate multiminicore disease with hand involvement", "equivalent_identifiers": ["MONDO:0015793", "orphanet:178145", "UMLS:C1861753", "medgen:396213"], "information_content": 100.0}
{"id": "MONDO:0012455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome", "equivalent_identifiers": ["MONDO:0012455", "DOID:0080597", "OMIM.PS:610253", "orphanet:261494", "UMLS:C4551771", "MEDDRA:10079365", "medgen:1684615", "icd11.foundation:1997337437"], "information_content": 89.4}
{"id": "MONDO:0015794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antenatal multiminicore disease with arthrogryposis multiplex congenita", "equivalent_identifiers": ["MONDO:0015794", "orphanet:178148", "UMLS:C1843691", "MESH:C537474", "medgen:334470"], "information_content": 100.0}
{"id": "MONDO:0016505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aldosterone-producing adrenal cortex adenoma", "equivalent_identifiers": ["MONDO:0016505", "orphanet:231625", "EFO:1000015", "UMLS:C1706762", "UMLS:CN226945", "NCIT:C48451", "medgen:353374"], "information_content": 85.5}
{"id": "MONDO:0007142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Townes syndrome", "equivalent_identifiers": ["MONDO:0007142", "DOID:0050887", "OMIM.PS:107480", "orphanet:857", "UMLS:C0265246", "MESH:C536974", "NCIT:C99085", "SNOMEDCT:24750000", "medgen:75555", "icd11.foundation:66554749"], "information_content": 92.8}
{"id": "HP:0009912", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tragus morphology", "equivalent_identifiers": ["HP:0009912", "UMLS:C4024162"], "information_content": 87.2}
{"id": "MONDO:0017614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "equivalent_identifiers": ["MONDO:0017614", "orphanet:3055", "UMLS:C0796264", "MESH:C536715", "SNOMEDCT:765471005", "medgen:162925"], "information_content": 100.0}
{"id": "MONDO:0020469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "48,XYYY syndrome", "equivalent_identifiers": ["MONDO:0020469", "orphanet:99329", "UMLS:C4518082", "SNOMEDCT:733625003", "medgen:1371767"], "information_content": 100.0}
{"id": "MONDO:0005715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital toxoplasmosis", "equivalent_identifiers": ["MONDO:0005715", "DOID:13336", "orphanet:858", "EFO:0007220", "UMLS:C0040560", "MESH:D014125", "MEDDRA:10010652", "NCIT:C50503", "SNOMEDCT:73893000", "medgen:52799", "icd11.foundation:1194018225", "ICD10:P37.1"], "information_content": 100.0}
{"id": "MONDO:0008982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central areolar choroidal dystrophy", "equivalent_identifiers": ["MONDO:0008982", "OMIM.PS:215500", "orphanet:75377", "UMLS:C0730291", "UMLS:C1536451", "MEDDRA:10008785", "SNOMEDCT:231996009", "SNOMEDCT:312918002", "medgen:283932", "icd11.foundation:2018537024"], "information_content": 88.2}
{"id": "HP:0031152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Full-thickness macular hole", "equivalent_identifiers": ["HP:0031152", "UMLS:C2733564", "SNOMEDCT:443437004"], "information_content": 100.0}
{"id": "HP:0030615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foveal photoreceptor outer segment loss on macular OCT", "equivalent_identifiers": ["HP:0030615", "UMLS:C4073085"], "information_content": 100.0}
{"id": "MONDO:0019151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligocone trichromacy", "equivalent_identifiers": ["MONDO:0019151", "orphanet:75378", "UMLS:C4302876", "SNOMEDCT:722066001", "medgen:928545", "icd11.foundation:645985320"], "information_content": 100.0}
{"id": "orphanet:893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WAGR syndrome", "equivalent_identifiers": ["orphanet:893"]}
{"id": "MONDO:0006190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endolymphatic sac tumor", "equivalent_identifiers": ["MONDO:0006190", "EFO:1000230", "UMLS:C2348239", "NCIT:C67560", "SNOMEDCT:699817008", "medgen:389657", "HP:0030393"], "information_content": 100.0}
{"id": "MONDO:0019517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 2", "equivalent_identifiers": ["MONDO:0019517", "orphanet:895", "UMLS:C2700265", "MESH:C536463", "NCIT:C75009", "SNOMEDCT:1010636000", "medgen:398443", "icd11.foundation:746815303"], "information_content": 88.2}
{"id": "MONDO:0019516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy", "equivalent_identifiers": ["MONDO:0019516", "DOID:0050535", "OMIM.PS:133780", "orphanet:891", "UMLS:C0004608", "UMLS:C0339539", "MESH:C580083", "MESH:D000080345", "MEDDRA:10003996", "MEDDRA:10038924", "SNOMEDCT:232063007", "medgen:573220", "ICD10:H35.00", "ICD9:362.10"], "information_content": 81.7}
{"id": "HP:0030496", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular exudate", "equivalent_identifiers": ["HP:0030496", "UMLS:C1827223", "UMLS:C4072984", "SNOMEDCT:423084001"], "information_content": 100.0}
{"id": "MONDO:0019514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic veno-occlusive disease", "equivalent_identifiers": ["MONDO:0019514", "DOID:0080177", "orphanet:890", "UMLS:C0019156", "MESH:D006504", "MEDDRA:10047216", "MEDDRA:10047217", "MEDDRA:10063675", "MEDDRA:10084397", "NCIT:C26793", "SNOMEDCT:65617004", "medgen:5514", "icd11.foundation:762044088", "ICD10:K76.5", "HP:6000716"], "information_content": 95.4}
{"id": "MONDO:0009581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome", "equivalent_identifiers": ["MONDO:0009581", "OMIM:249599", "orphanet:3044", "UMLS:C1855303", "MESH:C537447", "SNOMEDCT:722454003", "medgen:343317"], "information_content": 100.0}
{"id": "MONDO:0019509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous leukocytoclastic angiitis", "equivalent_identifiers": ["MONDO:0019509", "orphanet:889", "UMLS:C4049638", "MEDDRA:10085309", "NCIT:C122919", "SNOMEDCT:718217000", "medgen:881641", "icd11.foundation:71458216"], "information_content": 100.0}
{"id": "HP:0011223", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metopic depression", "equivalent_identifiers": ["HP:0011223", "UMLS:C4023454"], "information_content": 100.0}
{"id": "HP:0030042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Incomplete ossification of pubis", "equivalent_identifiers": ["HP:0030042", "UMLS:C0685678", "SNOMEDCT:373940002", "SNOMEDCT:93599000"], "information_content": 100.0}
{"id": "HP:0030313", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal periosteum morphology", "equivalent_identifiers": ["HP:0030313", "UMLS:C4022515"], "information_content": 82.1}
{"id": "MONDO:0019501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome", "equivalent_identifiers": ["MONDO:0019501", "DOID:0050439", "OMIM.PS:276900", "orphanet:886", "UMLS:C0271097", "MESH:D052245", "MEDDRA:10063396", "NCIT:C85217", "medgen:78754", "icd11.foundation:1452641873"], "information_content": 79.9}
{"id": "MONDO:0019508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van der Woude syndrome", "equivalent_identifiers": ["MONDO:0019508", "DOID:0060239", "orphanet:888", "UMLS:C0175697", "UMLS:C1834339", "MESH:C536528", "MESH:C563529", "NCIT:C74986", "SNOMEDCT:79261008", "medgen:61233", "icd11.foundation:133440037", "ICD10:Q38.0"], "information_content": 92.8}
{"id": "MONDO:0019499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Turner syndrome", "equivalent_identifiers": ["MONDO:0019499", "DOID:3491", "orphanet:881", "UMLS:C0041408", "MESH:D014424", "MEDDRA:10045181", "MEDDRA:10048226", "NCIT:C26900", "NCIT:C85210", "SNOMEDCT:38804009", "medgen:21734", "icd11.foundation:1987089698", "ICD10:Q96"], "information_content": 89.4}
{"id": "MONDO:0957477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MYT1L-related developmental delay-intellectual disability-obesity syndrome", "equivalent_identifiers": ["MONDO:0957477", "orphanet:647799", "UMLS:C5816753", "SNOMEDCT:1303866001", "medgen:1843395"], "information_content": 100.0}
{"id": "HP:6000352", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tachyphagia", "equivalent_identifiers": ["HP:6000352", "UMLS:C5818066", "SNOMEDCT:37801000087103"], "information_content": 100.0}
{"id": "HP:0034977", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pituitary stalk morphology", "equivalent_identifiers": ["HP:0034977", "UMLS:C5826808"], "information_content": 92.8}
{"id": "MONDO:0010399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome Xp21 deletion syndrome", "equivalent_identifiers": ["MONDO:0010399", "DOID:0060427", "OMIM:300679", "orphanet:261476", "UMLS:C4505291", "SNOMEDCT:1295529002", "SNOMEDCT:297257004", "medgen:1373978", "ICD10:Q99.8"], "information_content": 100.0}
{"id": "HP:0030146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal liver parenchyma morphology", "equivalent_identifiers": ["HP:0030146", "UMLS:C4022605"], "information_content": 83.1}
{"id": "HP:0011071", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal permanent molar morphology", "equivalent_identifiers": ["HP:0011071", "UMLS:C4023552"], "information_content": 89.4}
{"id": "MONDO:0009362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth delay-hydrocephaly-lung hypoplasia syndrome", "equivalent_identifiers": ["MONDO:0009362", "OMIM:236640", "orphanet:3035", "UMLS:C1856052", "MESH:C535406", "SNOMEDCT:716198008", "medgen:344639"], "information_content": 100.0}
{"id": "MONDO:0015293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome", "equivalent_identifiers": ["MONDO:0015293", "orphanet:137608", "UMLS:C4706610", "SNOMEDCT:763867001", "medgen:1637405"], "information_content": 100.0}
{"id": "MONDO:0019797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrodysostosis", "equivalent_identifiers": ["MONDO:0019797", "DOID:14669", "OMIM.PS:101800", "orphanet:950", "UMLS:C0220659", "MESH:C538179", "MEDDRA:10079856", "MEDDRA:10079861", "MEDDRA:10079862", "SNOMEDCT:66758006", "medgen:113097", "icd11.foundation:477546932"], "information_content": 92.8}
{"id": "MONDO:0020333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aggressive systemic mastocytosis", "equivalent_identifiers": ["MONDO:0020333", "DOID:4798", "orphanet:98850", "UMLS:C1112486", "MEDDRA:10056453", "MEDDRA:10089805", "NCIT:C9285", "SNOMEDCT:397008008", "SNOMEDCT:397358005", "SNOMEDCT:716655008", "medgen:206813", "icd11.foundation:870477963", "ICD10:C96.21"], "information_content": 95.4}
{"id": "HP:0100494", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mast cell morphology", "equivalent_identifiers": ["HP:0100494", "UMLS:C1301149", "SNOMEDCT:397017008"], "information_content": 82.1}
{"id": "MONDO:0019642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D-dependent rickets, type 2", "equivalent_identifiers": ["MONDO:0019642", "orphanet:93160", "UMLS:C3536983", "UMLS:C4331504", "MEDDRA:10016206", "MEDDRA:10039122", "MEDDRA:10060503", "MEDDRA:10060592", "MEDDRA:10077943", "MEDDRA:10077958", "NCIT:C131077", "SNOMEDCT:72831007", "medgen:760752", "icd11.foundation:2041886796"], "information_content": 92.8}
{"id": "HP:0010927", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood inorganic cation concentration", "equivalent_identifiers": ["HP:0010927", "UMLS:C4023648"], "information_content": 73.2}
{"id": "MONDO:0008712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocraniofacial dysostosis", "equivalent_identifiers": ["MONDO:0008712", "OMIM:201050", "orphanet:949", "UMLS:C1860145", "MESH:C536892", "SNOMEDCT:720418008", "medgen:349738"], "information_content": 100.0}
{"id": "HP:0011453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal incus morphology", "equivalent_identifiers": ["HP:0011453", "UMLS:C4023350"], "information_content": 83.1}
{"id": "MONDO:0020331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "indolent systemic mastocytosis", "equivalent_identifiers": ["MONDO:0020331", "DOID:4660", "orphanet:98848", "UMLS:C0272203", "MEDDRA:10056452", "NCIT:C9286", "SNOMEDCT:397356009", "SNOMEDCT:70910003", "medgen:82897", "icd11.foundation:353283231"], "information_content": 92.8}
{"id": "MONDO:0007950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mastocytosis", "equivalent_identifiers": ["MONDO:0007950", "DOID:350", "orphanet:98292", "EFO:0009001", "UMLS:C0024899", "UMLS:C5200990", "UMLS:C5779618", "MESH:D008415", "MEDDRA:10026891", "NCIT:C84269", "SNOMEDCT:125541005", "SNOMEDCT:127581004", "SNOMEDCT:397007003", "medgen:9902", "icd11.foundation:691643472", "ICD10:D47.09", "HP:0100495"], "information_content": 78.3}
{"id": "MONDO:0020332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SM-AHNMD", "equivalent_identifiers": ["MONDO:0020332", "DOID:4797", "orphanet:98849", "EFO:1000559", "UMLS:C1301365", "MEDDRA:10089807", "MEDDRA:10089906", "NCIT:C9284", "SNOMEDCT:397015000", "SNOMEDCT:397357000", "medgen:226985"], "information_content": 92.8}
{"id": "HP:0031807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Basophilia", "equivalent_identifiers": ["HP:0031807", "NCIT:C34414", "UMLS:C0853716", "MEDDRA:10004168", "MEDDRA:10004169", "MEDDRA:10005351", "SNOMEDCT:65209002"], "information_content": 79.6}
{"id": "HP:0034061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-steroid 17alpha-hydroxylase antibody positivity", "equivalent_identifiers": ["HP:0034061", "UMLS:C5676660"], "information_content": 100.0}
{"id": "MONDO:0015696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Good syndrome", "equivalent_identifiers": ["MONDO:0015696", "DOID:0060028", "orphanet:169105", "UMLS:C0221027", "MEDDRA:10079838", "SNOMEDCT:9893005", "medgen:67437", "icd11.foundation:812332735"], "information_content": 100.0}
{"id": "HP:0034657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine malonic acid level", "equivalent_identifiers": ["HP:0034657", "UMLS:C5826566"], "information_content": 100.0}
{"id": "MONDO:0015737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "typical nemaline myopathy", "equivalent_identifiers": ["MONDO:0015737", "orphanet:171436", "UMLS:C5680453", "SNOMEDCT:1197153000", "medgen:1806265", "icd11.foundation:1105111633"], "information_content": 87.2}
{"id": "MONDO:0015736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intermediate nemaline myopathy", "equivalent_identifiers": ["MONDO:0015736", "orphanet:171433", "UMLS:C5680452", "SNOMEDCT:1197156008", "medgen:1803914", "icd11.foundation:1667070006"], "information_content": 89.4}
{"id": "MONDO:0015735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe congenital nemaline myopathy", "equivalent_identifiers": ["MONDO:0015735", "orphanet:171430", "UMLS:C5680451", "SNOMEDCT:1197157004", "medgen:1805110", "icd11.foundation:1025202057"], "information_content": 88.2}
{"id": "HP:0011431", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal fifth finger clinodactyly", "equivalent_identifiers": ["HP:0011431", "UMLS:C4023362", "UMLS:C4280326"], "information_content": 100.0}
{"id": "MONDO:0019635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic achalasia", "equivalent_identifiers": ["MONDO:0019635", "orphanet:930", "UMLS:C0859976", "MEDDRA:10036669", "SNOMEDCT:715192004", "medgen:798339"], "information_content": 100.0}
{"id": "HP:0031085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating prealbumin concentration", "equivalent_identifiers": ["HP:0031085", "UMLS:C4476964"], "information_content": 100.0}
{"id": "MONDO:0017779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-N-acetylgalactosaminidase deficiency", "equivalent_identifiers": ["MONDO:0017779", "DOID:0112317", "orphanet:3137", "UMLS:C5848084", "SNOMEDCT:238048001", "medgen:1845666", "icd11.foundation:1647881428"], "information_content": 90.9}
{"id": "MONDO:0019648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achondrogenesis", "equivalent_identifiers": ["MONDO:0019648", "DOID:0080043", "OMIM.PS:200600", "orphanet:932", "UMLS:C0001079", "MESH:C579878", "MEDDRA:10066122", "NCIT:C84527", "SNOMEDCT:2391001", "medgen:84", "icd11.foundation:103965243"], "information_content": 88.2}
{"id": "MONDO:0019941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 2", "equivalent_identifiers": ["MONDO:0019941", "DOID:0070161", "orphanet:970", "UMLS:C0020072", "UMLS:C5574675", "SNOMEDCT:398148000", "medgen:1800880"], "information_content": 90.9}
{"id": "MONDO:0019943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary continuous muscle fiber activity", "equivalent_identifiers": ["MONDO:0019943", "orphanet:972", "UMLS:C1834559", "MESH:C563545", "SNOMEDCT:1231178006", "medgen:331775"], "information_content": 100.0}
{"id": "MONDO:0019455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute panmyelosis with myelofibrosis", "equivalent_identifiers": ["MONDO:0019455", "orphanet:86843", "UMLS:C0334674", "MEDDRA:10000879", "NCIT:C4344", "SNOMEDCT:109991003", "medgen:87279", "icd11.foundation:1831346835", "icd11.foundation:585339631"], "information_content": 95.4}
{"id": "HP:0012129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of bone marrow stromal cells", "equivalent_identifiers": ["HP:0012129", "UMLS:C4023034"], "information_content": 100.0}
{"id": "HP:0011992", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal neutrophil morphology", "equivalent_identifiers": ["HP:0011992", "UMLS:C0856003", "UMLS:C4023091", "MEDDRA:10029375", "MEDDRA:10061869"], "information_content": 76.0}
{"id": "HP:0012148", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple lineage myelodysplasia", "equivalent_identifiers": ["HP:0012148", "UMLS:C4023021"], "information_content": 100.0}
{"id": "HP:0010897", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypersarcosinuria", "equivalent_identifiers": ["HP:0010897", "UMLS:C4023669"], "information_content": 100.0}
{"id": "HP:0012150", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single lineage myelodysplasia", "equivalent_identifiers": ["HP:0012150", "UMLS:C4023019"], "information_content": 95.4}
{"id": "orphanet:98827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unclassified myelodysplastic syndrome", "equivalent_identifiers": ["orphanet:98827"]}
{"id": "HP:0500151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypercystinemia", "equivalent_identifiers": ["HP:0500151", "UMLS:C4732905"], "information_content": 100.0}
{"id": "HP:0003859", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical diaphyseal thickening of the upper limbs", "equivalent_identifiers": ["HP:0003859", "UMLS:C4025548"], "information_content": 95.4}
{"id": "HP:0025693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pituitary macroadenoma", "equivalent_identifiers": ["HP:0025693", "NCIT:C43542", "UMLS:C0346308", "MEDDRA:10035094", "SNOMEDCT:254965007"], "information_content": 92.8}
{"id": "MONDO:0020310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial focal epilepsy with variable foci", "equivalent_identifiers": ["MONDO:0020310", "DOID:0081420", "OMIM.PS:604364", "orphanet:98820", "UMLS:C1858477", "MESH:C565785", "SNOMEDCT:764522009", "medgen:348951", "icd11.foundation:855404450"], "information_content": 89.4}
{"id": "MONDO:0035402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated exencephaly", "equivalent_identifiers": ["MONDO:0035402", "orphanet:563612"], "information_content": 100.0}
{"id": "HP:0011756", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior pituitary agenesis", "equivalent_identifiers": ["HP:0011756", "UMLS:C4023203"], "information_content": 95.4}
{"id": "MONDO:0019454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelodysplastic syndrome with excess blasts", "equivalent_identifiers": ["MONDO:0019454", "orphanet:86839", "EFO:0003811", "UMLS:C0002894", "MESH:D000754", "MEDDRA:10037803", "MEDDRA:10038270", "MEDDRA:10054592", "MEDDRA:10088023", "NCIT:C7506", "SNOMEDCT:128847002", "SNOMEDCT:398623004", "medgen:8066"], "information_content": 92.8}
{"id": "HP:0012116", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating albumin concentration", "equivalent_identifiers": ["HP:0012116", "UMLS:C4023036"], "information_content": 73.6}
{"id": "HP:0100800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the pancreas", "equivalent_identifiers": ["HP:0100800", "UMLS:C4021968"], "information_content": 87.2}
{"id": "HP:0030391", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spoken word recognition deficit", "equivalent_identifiers": ["HP:0030391", "UMLS:C4072928"], "information_content": 100.0}
{"id": "HP:0011305", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of toe", "equivalent_identifiers": ["HP:0011305", "UMLS:C4021169"], "information_content": 100.0}
{"id": "HP:0008424", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplastic 5th lumbar vertebrae", "equivalent_identifiers": ["HP:0008424", "UMLS:C1859366"], "information_content": 100.0}
{"id": "HP:0031811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilirubinuria", "equivalent_identifiers": ["HP:0031811", "UMLS:C0005443", "MEDDRA:10004710", "SNOMEDCT:47922009"], "information_content": 100.0}
{"id": "HP:0031137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Storage in hepatocytes", "equivalent_identifiers": ["HP:0031137", "UMLS:C4476996"], "information_content": 79.9}
{"id": "MONDO:0010293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia and immune deficiency", "equivalent_identifiers": ["MONDO:0010293", "DOID:0081077", "OMIM.PS:300291", "orphanet:98813", "UMLS:C1846006", "MESH:C536181", "NCIT:C118844", "SNOMEDCT:703525006", "medgen:375786"], "information_content": 92.8}
{"id": "MONDO:0035401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated anencephaly", "equivalent_identifiers": ["MONDO:0035401", "orphanet:563609", "icd11.foundation:452325024"], "information_content": 100.0}
{"id": "MONDO:0700088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal nonkinesigenic dyskinesia", "equivalent_identifiers": ["MONDO:0700088", "orphanet:98810", "UMLS:C1869117", "MEDDRA:10065658", "SNOMEDCT:609218006", "medgen:401504"], "information_content": 92.8}
{"id": "MONDO:0019641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pauci-immune glomerulonephritis", "equivalent_identifiers": ["MONDO:0019641", "orphanet:93126", "UMLS:C0343196", "MEDDRA:10079502", "SNOMEDCT:239932005", "medgen:575439", "icd11.foundation:1359757645"], "information_content": 92.8}
{"id": "HP:0004930", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the pulmonary vasculature", "equivalent_identifiers": ["HP:0004930", "UMLS:C4025271"], "information_content": 69.8}
{"id": "HP:0032616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal interstitial immunoglobulin deposits", "equivalent_identifiers": ["HP:0032616", "UMLS:C5397637"], "information_content": 100.0}
{"id": "MONDO:0017872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lujo hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017872", "DOID:0050202", "orphanet:319213", "UMLS:C4274433", "MESH:C000723471", "MEDDRA:10079325", "MEDDRA:10079329", "SNOMEDCT:716585008", "medgen:905662", "ICD10:A96.8"], "information_content": 100.0}
{"id": "MONDO:0019524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter syndrome type 4", "equivalent_identifiers": ["MONDO:0019524", "orphanet:89938", "UMLS:C3838860", "SNOMEDCT:700112007", "medgen:824706", "icd11.foundation:959024909"], "information_content": 92.8}
{"id": "HP:0012164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asterixis", "equivalent_identifiers": ["HP:0012164", "NCIT:C86048", "UMLS:C0232766", "MEDDRA:10003547", "MEDDRA:10057580", "SNOMEDCT:32838008"], "information_content": 100.0}
{"id": "MONDO:0013860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic membranous glomerulonephritis", "equivalent_identifiers": ["MONDO:0013860", "OMIM:614692", "orphanet:97560", "UMLS:C0086445", "UMLS:C3553496", "NCIT:C123060", "SNOMEDCT:722119002", "medgen:39226"], "information_content": 100.0}
{"id": "HP:0034002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phospholipase A2 receptor antibody positivity", "equivalent_identifiers": ["HP:0034002", "UMLS:C5558376"], "information_content": 100.0}
{"id": "HP:0012449", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sacroiliac joint synovitis", "equivalent_identifiers": ["HP:0012449", "UMLS:C4022900"], "information_content": 100.0}
{"id": "HP:6000407", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating fibroblast growth factor 23 concentration", "equivalent_identifiers": ["HP:6000407", "UMLS:C5937193"], "information_content": 100.0}
{"id": "HP:0006490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lower-limb metaphysis morphology", "equivalent_identifiers": ["HP:0006490", "UMLS:C4025039"], "information_content": 77.8}
{"id": "HP:0003856", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper limb metaphyseal widening", "equivalent_identifiers": ["HP:0003856", "UMLS:C4021719"], "information_content": 87.2}
{"id": "MONDO:0008389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Robinow syndrome", "equivalent_identifiers": ["MONDO:0008389", "orphanet:3107", "UMLS:C5200540", "SNOMEDCT:76520005", "SNOMEDCT:890233009", "medgen:1675001", "icd11.foundation:807338758"], "information_content": 90.9}
{"id": "MONDO:0017771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mayer-Rokitansky-Kuster-Hauser syndrome", "equivalent_identifiers": ["MONDO:0017771", "DOID:0112177", "orphanet:3109", "UMLS:C0431648", "MEDDRA:10065148", "NCIT:C124853", "SNOMEDCT:1354648006", "SNOMEDCT:8793008", "medgen:140915"], "information_content": 92.8}
{"id": "HP:0031086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic ovary", "equivalent_identifiers": ["HP:0031086", "UMLS:C0266370", "MEDDRA:10074217", "SNOMEDCT:62524003"], "information_content": 100.0}
{"id": "MONDO:0018821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability", "equivalent_identifiers": ["MONDO:0018821", "orphanet:480880", "UMLS:C5567523", "SNOMEDCT:1172697000", "medgen:1798946"], "information_content": 100.0}
{"id": "HP:0004095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curved fingers", "equivalent_identifiers": ["HP:0004095", "UMLS:C4025413"], "information_content": 80.2}
{"id": "HP:0030925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5-minute APGAR score of 5", "equivalent_identifiers": ["HP:0030925", "UMLS:C4476855"], "information_content": 100.0}
{"id": "HP:0410026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal periodontium morphology", "equivalent_identifiers": ["HP:0410026", "UMLS:C4477068"], "information_content": 73.3}
{"id": "HP:0000025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Functional abnormality of male internal genitalia", "equivalent_identifiers": ["HP:0000025", "UMLS:C4025898"], "information_content": 77.1}
{"id": "orphanet:906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wiskott-Aldrich syndrome", "equivalent_identifiers": ["orphanet:906"]}
{"id": "MONDO:0001014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic leukemia", "equivalent_identifiers": ["MONDO:0001014", "DOID:1036", "UMLS:C1279296", "UMLS:C4280478", "MEDDRA:10008943", "MEDDRA:10008944", "MEDDRA:10008946", "MEDDRA:10008948", "MEDDRA:10008949", "MEDDRA:10024294", "MEDDRA:10024316", "MEDDRA:10024333", "MEDDRA:10024354", "MEDDRA:10060575", "NCIT:C3483", "SNOMEDCT:128933000", "SNOMEDCT:2557004", "SNOMEDCT:92812005", "medgen:220905", "HP:0005558"], "information_content": 68.4}
{"id": "MONDO:0019547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wells syndrome", "equivalent_identifiers": ["MONDO:0019547", "orphanet:901", "UMLS:C0343101", "MESH:C536693", "MEDDRA:10053776", "MEDDRA:10053780", "SNOMEDCT:238931006", "medgen:91008", "icd11.foundation:1860796142"], "information_content": 100.0}
{"id": "MONDO:0016418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple system atrophy, cerebellar type", "equivalent_identifiers": ["MONDO:0016418", "orphanet:227510", "UMLS:C5554234", "MEDDRA:10086131", "medgen:1843304", "icd11.foundation:1585600114"], "information_content": 100.0}
{"id": "HP:0020190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perisylvian predominant thick cortex pachygyria", "equivalent_identifiers": ["HP:0020190", "UMLS:C5209272"], "information_content": 100.0}
{"id": "MONDO:0019565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary von Willebrand disease", "equivalent_identifiers": ["MONDO:0019565", "DOID:12531", "orphanet:903", "UMLS:C2930849", "UMLS:C5703318", "MESH:C531844", "SNOMEDCT:1259242002", "SNOMEDCT:234446004", "medgen:1814986", "icd11.foundation:2112021600", "ICD10:D68.0", "ICD9:286.4"], "information_content": 84.2}
{"id": "MONDO:0009716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Richieri Costa-da Silva syndrome", "equivalent_identifiers": ["MONDO:0009716", "OMIM:255710", "orphanet:3101", "UMLS:C1850654", "UMLS:C2930978", "MESH:C535675", "MESH:C564967", "SNOMEDCT:782941005", "medgen:419686"], "information_content": 100.0}
{"id": "MONDO:0003865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acral lentiginous melanoma", "equivalent_identifiers": ["MONDO:0003865", "DOID:6367", "UMLS:C0346037", "MEDDRA:10000583", "NCIT:C4022", "SNOMEDCT:16974005", "SNOMEDCT:254732008", "medgen:87530", "HP:0012060"], "information_content": 86.3}
{"id": "HP:0200154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of mandibular lateral incisor", "equivalent_identifiers": ["HP:0200154", "UMLS:C4021880", "UMLS:C4280283"], "information_content": 92.8}
{"id": "HP:0010565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the Epiglottis", "equivalent_identifiers": ["HP:0010565", "UMLS:C4023790"], "information_content": 89.4}
{"id": "MONDO:0005737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ebola hemorrhagic fever", "equivalent_identifiers": ["MONDO:0005737", "DOID:4325", "orphanet:319218", "EFO:0007243", "UMLS:C0282687", "MESH:D019142", "MEDDRA:10014071", "MEDDRA:10014072", "MEDDRA:10014074", "MEDDRA:10055245", "NCIT:C36171", "SNOMEDCT:37109004", "medgen:129219", "icd11.foundation:792755706", "ICD10:A98.4"], "information_content": 100.0}
{"id": "MONDO:0014452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial dysfibrinogenemia", "equivalent_identifiers": ["MONDO:0014452", "OMIM:616004", "orphanet:98881", "UMLS:C0272350", "UMLS:C1260903", "MESH:C562727", "MEDDRA:10051123", "MEDDRA:10054362", "NCIT:C131659", "SNOMEDCT:111589005", "SNOMEDCT:45366001", "medgen:82901", "HP:0011901"], "information_content": 87.2}
{"id": "MONDO:0015701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency", "equivalent_identifiers": ["MONDO:0015701", "orphanet:169154", "UMLS:C5679577", "medgen:1842915"], "information_content": 100.0}
{"id": "MONDO:0017593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile amyotrophic lateral sclerosis", "equivalent_identifiers": ["MONDO:0017593", "orphanet:300605", "UMLS:C3468114", "SNOMEDCT:718555006", "medgen:923704"], "information_content": 89.4}
{"id": "HP:0100360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper-limb joint contracture", "equivalent_identifiers": ["HP:0100360", "UMLS:C2750635"], "information_content": 73.2}
{"id": "HP:0032755", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal impaired awareness autonomic seizure", "equivalent_identifiers": ["HP:0032755", "UMLS:C5397765", "SNOMEDCT:1281836004"], "information_content": 84.8}
{"id": "HP:0012002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Experiential epileptic aura", "equivalent_identifiers": ["HP:0012002", "UMLS:C4023087"], "information_content": 88.2}
{"id": "MONDO:0015326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "night blindness-skeletal anomalies-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0015326", "orphanet:1390", "UMLS:C5679607", "SNOMEDCT:1237228009", "medgen:1814437"], "information_content": 100.0}
{"id": "MONDO:0017694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "equivalent_identifiers": ["MONDO:0017694", "orphanet:308552", "UMLS:C3888924", "MEDDRA:10075700", "SNOMEDCT:722302009", "medgen:923868", "icd11.foundation:1496243702"], "information_content": 100.0}
{"id": "MONDO:0018338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "activated PI3K-delta syndrome", "equivalent_identifiers": ["MONDO:0018338", "orphanet:397596", "MESH:C585640", "SNOMEDCT:711480000"], "information_content": 92.8}
{"id": "MONDO:0017783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital pancreatic cyst", "equivalent_identifiers": ["MONDO:0017783", "orphanet:313906", "UMLS:C0341480", "SNOMEDCT:204808002", "medgen:574418", "icd11.foundation:981856956"], "information_content": 100.0}
{"id": "orphanet:397590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silver-Russell syndrome due to a point mutation", "equivalent_identifiers": ["orphanet:397590"]}
{"id": "MONDO:0009493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Richards-Rundle syndrome", "equivalent_identifiers": ["MONDO:0009493", "OMIM:245100", "orphanet:1399", "UMLS:C0796136", "MESH:C535674", "SNOMEDCT:715415005", "medgen:163219", "icd11.foundation:114583632"], "information_content": 100.0}
{"id": "MONDO:0010612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephaly-cerebellar agenesis syndrome", "equivalent_identifiers": ["MONDO:0010612", "OMIM:307010", "orphanet:1397", "UMLS:C1844005", "MESH:C564407", "medgen:375335"], "information_content": 100.0}
{"id": "HP:0100444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curved middle phalanx of the 4th toe", "equivalent_identifiers": ["HP:0100444", "UMLS:C4022083"], "information_content": 100.0}
{"id": "MONDO:0018822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome", "equivalent_identifiers": ["MONDO:0018822", "orphanet:480898", "UMLS:C5567522", "SNOMEDCT:1172696009", "medgen:1798945"], "information_content": 100.0}
{"id": "HP:0012130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal erythroid lineage cell morphology", "equivalent_identifiers": ["HP:0012130", "UMLS:C4020862"], "information_content": 59.7}
{"id": "MONDO:0015324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract-intellectual disability-anal atresia-urinary defects syndrome", "equivalent_identifiers": ["MONDO:0015324", "orphanet:1381", "UMLS:C2931391", "MESH:C537009", "SNOMEDCT:715989002", "medgen:419068"], "information_content": 100.0}
{"id": "HP:0008063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the lens", "equivalent_identifiers": ["HP:0008063", "UMLS:C4024738"], "information_content": 88.2}
{"id": "MONDO:0016305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical pantothenate kinase-associated neurodegeneration", "equivalent_identifiers": ["MONDO:0016305", "orphanet:216873", "UMLS:C5568621", "SNOMEDCT:1186856001", "medgen:1800044"], "information_content": 100.0}
{"id": "MONDO:0015739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset nemaline myopathy", "equivalent_identifiers": ["MONDO:0015739", "orphanet:171442", "UMLS:C0546123", "SNOMEDCT:129622008", "medgen:154264", "icd11.foundation:1610331066"], "information_content": 100.0}
{"id": "MONDO:0018006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset distal myopathy due to VCP mutation", "equivalent_identifiers": ["MONDO:0018006", "orphanet:329478", "UMLS:C4749506", "SNOMEDCT:770792007", "medgen:1660404"], "information_content": 100.0}
{"id": "HP:0001437", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the musculature of the lower limbs", "equivalent_identifiers": ["HP:0001437", "UMLS:C4025784"], "information_content": 73.2}
{"id": "MONDO:0009024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical blindness-intellectual disability-polydactyly syndrome", "equivalent_identifiers": ["MONDO:0009024", "OMIM:218010", "orphanet:1389", "UMLS:C1857568", "MESH:C565674", "medgen:347487"], "information_content": 100.0}
{"id": "MONDO:0044778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular lymphocyte predominant Hodgkin lymphoma", "equivalent_identifiers": ["MONDO:0044778", "orphanet:86893", "UMLS:C1334968", "MEDDRA:10080201", "NCIT:C7258", "medgen:233758", "icd11.foundation:331115338"], "information_content": 82.6}
{"id": "HP:0031401", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased double-negative T cell proportion", "equivalent_identifiers": ["HP:0031401", "UMLS:C4531149"], "information_content": 100.0}
{"id": "HP:0030909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-liver cytosolic antigen type 1 antibody positivity", "equivalent_identifiers": ["HP:0030909", "UMLS:C4293676"], "information_content": 100.0}
{"id": "HP:0031104", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Insulin receptor antibody positivity", "equivalent_identifiers": ["HP:0031104", "UMLS:C4476973"], "information_content": 100.0}
{"id": "MONDO:0018005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia-Paget disease of bone syndrome", "equivalent_identifiers": ["MONDO:0018005", "orphanet:329475", "UMLS:C4511969", "SNOMEDCT:726622002", "medgen:1388986"], "information_content": 100.0}
{"id": "HP:0004563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased spinal bone density", "equivalent_identifiers": ["HP:0004563", "UMLS:C4020828", "UMLS:C4280254", "UMLS:C4280513", "UMLS:C4280514", "UMLS:C4280515", "UMLS:C5706135"], "information_content": 100.0}
{"id": "MONDO:0015738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood-onset nemaline myopathy", "equivalent_identifiers": ["MONDO:0015738", "orphanet:171439", "UMLS:C0546125", "SNOMEDCT:1197154006", "medgen:154265"], "information_content": 87.2}
{"id": "MONDO:0021071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal neoplasm", "equivalent_identifiers": ["MONDO:0021071", "EFO:0003817", "UMLS:C0023055", "MESH:D007822", "MEDDRA:10023840", "MEDDRA:10023841", "MEDDRA:10023843", "MEDDRA:10028995", "NCIT:C3156", "SNOMEDCT:126692004", "medgen:7271", "HP:0100605"], "information_content": 67.6}
{"id": "MONDO:0015325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract-deafness-hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0015325", "orphanet:1383", "UMLS:C2931269", "MESH:C536626", "SNOMEDCT:722378009", "medgen:419760"], "information_content": 100.0}
{"id": "MONDO:0017180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "10q22.3q23.3 microduplication syndrome", "equivalent_identifiers": ["MONDO:0017180", "orphanet:276422", "UMLS:C5190512", "SNOMEDCT:782669004", "medgen:1682781"], "information_content": 100.0}
{"id": "HP:0030193", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of chewing muscles", "equivalent_identifiers": ["HP:0030193", "UMLS:C4022590"], "information_content": 100.0}
{"id": "MONDO:0019634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial nasal acilia", "equivalent_identifiers": ["MONDO:0019634", "orphanet:922", "UMLS:C4706505", "SNOMEDCT:763532008", "medgen:1647725"], "information_content": 100.0}
{"id": "MONDO:0019926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X small rings", "equivalent_identifiers": ["MONDO:0019926", "orphanet:96201", "UMLS:C4707824", "SNOMEDCT:766760004", "medgen:1641475"], "information_content": 100.0}
{"id": "MONDO:0010680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked Emery-Dreifuss muscular dystrophy", "equivalent_identifiers": ["MONDO:0010680", "orphanet:98863", "UMLS:C0751337", "MESH:D000083143", "SNOMEDCT:1156836006", "medgen:148284"], "information_content": 89.4}
{"id": "MONDO:0016304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic pantothenate kinase-associated neurodegeneration", "equivalent_identifiers": ["MONDO:0016304", "orphanet:216866", "UMLS:C5679812", "medgen:1826057"], "information_content": 100.0}
{"id": "MONDO:0015300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract - microcornea syndrome", "equivalent_identifiers": ["MONDO:0015300", "orphanet:1377", "UMLS:C1861829", "MESH:C538287", "SNOMEDCT:722382006"], "information_content": 100.0}
{"id": "MONDO:0021005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "faciodigitogenital syndrome", "equivalent_identifiers": ["MONDO:0021005", "DOID:0111824", "orphanet:915"], "information_content": 90.9}
{"id": "MONDO:0007277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract-aberrant oral frenula-growth delay syndrome", "equivalent_identifiers": ["MONDO:0007277", "OMIM:115645", "orphanet:1373", "UMLS:C1861835", "UMLS:C4274900", "MESH:C536691", "SNOMEDCT:715988005", "medgen:350520"], "information_content": 100.0}
{"id": "HP:0031921", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gastrocnemius myalgia", "equivalent_identifiers": ["HP:0031921", "UMLS:C4732758"], "information_content": 100.0}
{"id": "MONDO:0017076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior meningocele", "equivalent_identifiers": ["MONDO:0017076", "orphanet:268810", "UMLS:C5680741", "SNOMEDCT:1197212001", "medgen:1806905", "icd11.foundation:1464755755"], "information_content": 100.0}
{"id": "MONDO:0019609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zellweger spectrum disorders", "equivalent_identifiers": ["MONDO:0019609", "DOID:905", "orphanet:912", "UMLS:C0043459", "UMLS:C0282526", "MESH:D015211", "MEDDRA:10053684", "MEDDRA:10053706", "MEDDRA:10082383", "MEDDRA:10082387", "NCIT:C125593", "NCIT:C85239", "SNOMEDCT:13306007", "SNOMEDCT:88469006", "medgen:21958", "ICD10:E71.510"], "information_content": 75.3}
{"id": "orphanet:98855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autosomal recessive Emery-Dreifuss muscular dystrophy", "equivalent_identifiers": ["orphanet:98855"]}
{"id": "MONDO:0019600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum", "equivalent_identifiers": ["MONDO:0019600", "DOID:0050427", "orphanet:910", "UMLS:C0043346", "MESH:D014983", "MEDDRA:10048220", "NCIT:C3452", "SNOMEDCT:44600005", "medgen:21943", "icd11.foundation:1243068849", "ICD10:Q82.1"], "information_content": 78.5}
{"id": "MONDO:0002236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular cancer", "equivalent_identifiers": ["MONDO:0002236", "DOID:2174", "UMLS:C0015414", "UMLS:C0153632", "UMLS:C0496836", "MESH:D005134", "MEDDRA:10025549", "MEDDRA:10025910", "MEDDRA:10025911", "MEDDRA:10030054", "MEDDRA:10048730", "MEDDRA:10052448", "NCIT:C4767", "SNOMEDCT:363461003", "SNOMEDCT:371486001", "medgen:105418", "ICD9:190.8", "HP:0100012"], "information_content": 63.7}
{"id": "MONDO:0020336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Emery-Dreifuss muscular dystrophy", "equivalent_identifiers": ["MONDO:0020336", "orphanet:98853"], "information_content": 89.4}
{"id": "MONDO:0015705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive centronuclear myopathy", "equivalent_identifiers": ["MONDO:0015705", "DOID:0111216", "orphanet:169186", "UMLS:C3645536", "SNOMEDCT:240081004", "medgen:771131", "icd11.foundation:1844602815"], "information_content": 92.8}
{"id": "MONDO:0017100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia-monocytopenia-deafness syndrome", "equivalent_identifiers": ["MONDO:0017100", "orphanet:2690", "UMLS:C4518430", "SNOMEDCT:725137007", "medgen:1383523"], "information_content": 100.0}
{"id": "HP:0001707", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal right ventricle morphology", "equivalent_identifiers": ["HP:0001707", "UMLS:C0344887", "SNOMEDCT:253516002"], "information_content": 78.0}
{"id": "HP:0031069", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal femoral torsion", "equivalent_identifiers": ["HP:0031069", "UMLS:C4476948"], "information_content": 92.8}
{"id": "MONDO:0017649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemidystonia-hemiatrophy syndrome", "equivalent_identifiers": ["MONDO:0017649", "orphanet:306741", "UMLS:C4510649", "SNOMEDCT:724383002", "medgen:1386711"], "information_content": 100.0}
{"id": "HP:0001787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal delivery", "equivalent_identifiers": ["HP:0001787", "UMLS:C0549629", "UMLS:C0852962", "MEDDRA:10010150", "MEDDRA:10061781", "SNOMEDCT:274127000"], "information_content": 77.6}
{"id": "HP:0010540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Advanced pneumatization of cranial sinuses", "equivalent_identifiers": ["HP:0010540", "UMLS:C4023793"], "information_content": 100.0}
{"id": "MONDO:0005692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cat-scratch disease", "equivalent_identifiers": ["MONDO:0005692", "DOID:11258", "orphanet:50839", "EFO:0007195", "UMLS:C0007361", "MESH:D002372", "MEDDRA:10007729", "MEDDRA:10007730", "MEDDRA:10007731", "NCIT:C84620", "SNOMEDCT:79974007", "medgen:2861", "icd11.foundation:2003001085", "ICD10:A28.1", "ICD9:078.3"], "information_content": 100.0}
{"id": "MONDO:0001630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branch retinal artery occlusion", "equivalent_identifiers": ["MONDO:0001630", "DOID:13094", "UMLS:C0006123", "MEDDRA:10038822", "NCIT:C34436", "SNOMEDCT:50821009", "medgen:14217", "ICD10:H34.23", "ICD9:362.32", "HP:0020161"], "information_content": 100.0}
{"id": "HP:0020165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Branch retinal vein occlusion", "equivalent_identifiers": ["HP:0020165", "UMLS:C0339505", "MEDDRA:10038906", "MEDDRA:10047258", "SNOMEDCT:24596005"], "information_content": 100.0}
{"id": "MONDO:0015290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurotrophic keratopathy", "equivalent_identifiers": ["MONDO:0015290", "orphanet:137596", "UMLS:C0339296", "MEDDRA:10069732", "MEDDRA:10088320", "SNOMEDCT:128080005", "medgen:87384", "icd11.foundation:1257534118"], "information_content": 100.0}
{"id": "MONDO:0015291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stromal keratitis", "equivalent_identifiers": ["MONDO:0015291", "orphanet:137599", "UMLS:C1318020", "medgen:727306", "icd11.foundation:1665288755"], "information_content": 100.0}
{"id": "HP:0031448", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Herpetiform vesicles", "equivalent_identifiers": ["HP:0031448", "UMLS:C4531111"], "information_content": 100.0}
{"id": "MONDO:0018129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cerebellar ataxia with late-onset spasticity", "equivalent_identifiers": ["MONDO:0018129", "orphanet:352641", "UMLS:C4706412", "SNOMEDCT:763348005", "medgen:1635411"], "information_content": 100.0}
{"id": "MONDO:0019538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaisbock syndrome", "equivalent_identifiers": ["MONDO:0019538", "DOID:2838", "orphanet:90041", "UMLS:C0541719", "UMLS:C2242785", "MEDDRA:10042217", "MEDDRA:10053885", "MEDDRA:10054644", "NCIT:C27174", "SNOMEDCT:36874002", "SNOMEDCT:48250002", "medgen:745735", "icd11.foundation:533704171"], "information_content": 100.0}
{"id": "HP:0025619", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated plasma cell count", "equivalent_identifiers": ["HP:0025619", "UMLS:C5139090"], "information_content": 100.0}
{"id": "HP:0002152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperproteinemia", "equivalent_identifiers": ["HP:0002152", "UMLS:C0267988", "MEDDRA:10020740", "MEDDRA:10054418", "SNOMEDCT:37064009"], "information_content": 70.5}
{"id": "MONDO:0017123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ARC syndrome", "equivalent_identifiers": ["MONDO:0017123", "DOID:0050763", "OMIM.PS:208085", "orphanet:2697", "UMLS:C4551984", "MESH:C535382", "SNOMEDCT:720513002", "medgen:1647210"], "information_content": 92.8}
{"id": "HP:0012483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal alpha granules", "equivalent_identifiers": ["HP:0012483", "UMLS:C4022886"], "information_content": 88.2}
{"id": "orphanet:2680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomyelination neuropathy-arthrogryposis syndrome", "equivalent_identifiers": ["orphanet:2680"]}
{"id": "MONDO:0034103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infection-related hemolytic uremic syndrome", "equivalent_identifiers": ["MONDO:0034103", "orphanet:544482", "UMLS:C5680165", "SNOMEDCT:1269270002", "medgen:1826072"], "information_content": 92.8}
{"id": "HP:0011115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating chemokine concentration", "equivalent_identifiers": ["HP:0011115", "UMLS:C4023532"], "information_content": 89.4}
{"id": "HP:0011116", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating interferon concentration", "equivalent_identifiers": ["HP:0011116", "UMLS:C4023531"], "information_content": 89.4}
{"id": "MONDO:0017648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sydenham chorea", "equivalent_identifiers": ["MONDO:0017648", "orphanet:306731", "UMLS:C0152113", "MEDDRA:10039049", "MEDDRA:10042732", "NCIT:C168445", "SNOMEDCT:46826000", "medgen:57506", "icd11.foundation:1295812812"], "information_content": 100.0}
{"id": "MONDO:0019535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug-induced autoimmune hemolytic anemia", "equivalent_identifiers": ["MONDO:0019535", "orphanet:90037", "UMLS:C0391817", "SNOMEDCT:309742004", "medgen:580980"], "information_content": 100.0}
{"id": "MONDO:0019536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shiga toxin-associated hemolytic uremic syndrome", "equivalent_identifiers": ["MONDO:0019536", "orphanet:90038", "UMLS:C1856143", "medgen:383843"], "information_content": 100.0}
{"id": "HP:0012851", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Colonic stenosis", "equivalent_identifiers": ["HP:0012851", "NCIT:C78243", "UMLS:C0267466", "MEDDRA:10009981", "MEDDRA:10010004", "MEDDRA:10010005", "MEDDRA:10041977", "MEDDRA:10041983", "MEDDRA:10042234", "SNOMEDCT:19132000", "SNOMEDCT:8543007"], "information_content": 100.0}
{"id": "MONDO:0019537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin D disease", "equivalent_identifiers": ["MONDO:0019537", "DOID:5378", "orphanet:90039", "UMLS:C0272080", "MEDDRA:10055019", "MEDDRA:10055079", "NCIT:C35344", "SNOMEDCT:66729008", "medgen:124416", "icd11.foundation:1508363690"], "information_content": 100.0}
{"id": "HP:0011905", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced hemoglobin A", "equivalent_identifiers": ["HP:0011905", "UMLS:C4023138"], "information_content": 100.0}
{"id": "HP:0030058", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sickled erythrocytes", "equivalent_identifiers": ["HP:0030058", "UMLS:C2237347"], "information_content": 100.0}
{"id": "MONDO:0008917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart defects-limb shortening syndrome", "equivalent_identifiers": ["MONDO:0008917", "OMIM:212135", "orphanet:1354", "UMLS:C1859327", "MESH:C535850", "SNOMEDCT:721009008", "medgen:349142"], "information_content": 100.0}
{"id": "MONDO:0010825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "equivalent_identifiers": ["MONDO:0010825", "OMIM:600123", "orphanet:1352", "UMLS:C1838606", "MESH:C563994", "medgen:374010"], "information_content": 100.0}
{"id": "MONDO:0015284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart-hand syndrome type 2", "equivalent_identifiers": ["MONDO:0015284", "orphanet:1350", "UMLS:C2931323", "MESH:C536784", "SNOMEDCT:721010003", "medgen:444030", "icd11.foundation:2111612055"], "information_content": 100.0}
{"id": "MONDO:0019532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune hemolytic anemia, warm type", "equivalent_identifiers": ["MONDO:0019532", "orphanet:90033", "UMLS:C0272118", "UMLS:C5206690", "MEDDRA:10047822", "MEDDRA:10054703", "MEDDRA:10087091", "MEDDRA:10087092", "NCIT:C162611", "SNOMEDCT:3978000", "medgen:450541", "icd11.foundation:880772122"], "information_content": 100.0}
{"id": "HP:0032366", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive direct antiglobulin test", "equivalent_identifiers": ["HP:0032366", "UMLS:C5139299"], "information_content": 100.0}
{"id": "MONDO:0019533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal cold hemoglobinuria", "equivalent_identifiers": ["MONDO:0019533", "orphanet:90035", "UMLS:C0086774", "SNOMEDCT:127057004", "medgen:39693", "icd11.foundation:715111132"], "information_content": 100.0}
{"id": "MONDO:0015285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney complex", "equivalent_identifiers": ["MONDO:0015285", "DOID:0050471", "orphanet:1359", "UMLS:C0406810", "MESH:D056733", "MEDDRA:10076601", "MEDDRA:10084246", "MEDDRA:10084248", "NCIT:C4705", "SNOMEDCT:733491005", "medgen:140810", "icd11.foundation:1051158630"], "information_content": 85.5}
{"id": "MONDO:0005289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paranasal sinus neoplasm", "equivalent_identifiers": ["MONDO:0005289", "DOID:1350", "EFO:0003866", "UMLS:C0030470", "MESH:D010255", "MEDDRA:10057448", "NCIT:C7488", "SNOMEDCT:126675008", "medgen:18296", "HP:0030072"], "information_content": 72.0}
{"id": "MONDO:0021246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pharynx neoplasm", "equivalent_identifiers": ["MONDO:0021246", "UMLS:C0031347", "MEDDRA:10052180", "MEDDRA:10062075", "NCIT:C3325", "SNOMEDCT:126685009", "medgen:45844", "HP:0100638"], "information_content": 62.3}
{"id": "HP:0100737", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hard palate morphology", "equivalent_identifiers": ["HP:0100737", "UMLS:C4021983"], "information_content": 84.8}
{"id": "MONDO:0031415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carey-Fineman-Ziter syndrome", "equivalent_identifiers": ["MONDO:0031415", "OMIM.PS:254940", "orphanet:1358", "UMLS:C1850746", "medgen:338115", "icd11.foundation:1784462638"], "information_content": 92.8}
{"id": "MONDO:0019534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed-type autoimmune hemolytic anemia", "equivalent_identifiers": ["MONDO:0019534", "orphanet:90036", "UMLS:C4305257", "SNOMEDCT:718716008", "medgen:930926", "icd11.foundation:1878239449"], "information_content": 100.0}
{"id": "MONDO:0015703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta", "equivalent_identifiers": ["MONDO:0015703", "orphanet:169160", "UMLS:C5679578", "medgen:1842819"], "information_content": 90.9}
{"id": "MONDO:0018860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microlissencephaly-micromelia syndrome", "equivalent_identifiers": ["MONDO:0018860", "orphanet:50810", "UMLS:C4509878", "SNOMEDCT:723405001", "medgen:1377242"], "information_content": 100.0}
{"id": "HP:0100530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating calcium-phosphate regulating hormone concentration", "equivalent_identifiers": ["HP:0100530", "UMLS:C4022031", "UMLS:C5139417"], "information_content": 87.2}
{"id": "MONDO:0018861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zellweger-like syndrome without peroxisomal anomalies", "equivalent_identifiers": ["MONDO:0018861", "orphanet:50812", "UMLS:C4305104", "SNOMEDCT:718880003", "medgen:930773", "icd11.foundation:697302760"], "information_content": 100.0}
{"id": "HP:0008774", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the inner ear", "equivalent_identifiers": ["HP:0008774", "UMLS:C4024625"], "information_content": 86.3}
{"id": "MONDO:0019857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies", "equivalent_identifiers": ["MONDO:0019857", "orphanet:95715", "UMLS:C4273914", "SNOMEDCT:717333002", "medgen:903571"], "information_content": 100.0}
{"id": "MONDO:0015282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy-cataract-hip spine disease syndrome", "equivalent_identifiers": ["MONDO:0015282", "orphanet:1345", "UMLS:C2931548", "MESH:C537616", "SNOMEDCT:720609003", "medgen:419439"], "information_content": 100.0}
{"id": "MONDO:0010132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial thyroid dyshormonogenesis", "equivalent_identifiers": ["MONDO:0010132", "DOID:0112183", "OMIM.PS:274400", "orphanet:95716", "UMLS:C4273748", "MESH:C564766", "NCIT:C121751", "SNOMEDCT:718183003", "medgen:903446"], "information_content": 87.2}
{"id": "HP:0025482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive perchlorate discharge test", "equivalent_identifiers": ["HP:0025482", "UMLS:C4476803"], "information_content": 100.0}
{"id": "MONDO:0020744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mobitz type I atrioventricular block", "equivalent_identifiers": ["MONDO:0020744", "UMLS:C0264907", "MEDDRA:10027787", "MEDDRA:10047908", "MEDDRA:10047909", "NCIT:C62017", "SNOMEDCT:54016002", "medgen:82687", "HP:0011707"], "information_content": 100.0}
{"id": "MONDO:0019621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic pneumonitis of infancy", "equivalent_identifiers": ["MONDO:0019621", "orphanet:91359", "UMLS:C3872848", "SNOMEDCT:708026002", "medgen:846677", "icd11.foundation:1821220054"], "information_content": 100.0}
{"id": "MONDO:0015280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome", "equivalent_identifiers": ["MONDO:0015280", "DOID:0060233", "OMIM.PS:115150", "orphanet:1340", "UMLS:C1275081", "MESH:C535579", "MEDDRA:10082805", "MEDDRA:10082855", "NCIT:C84617", "SNOMEDCT:403770008", "medgen:266149"], "information_content": 89.4}
{"id": "MONDO:0019858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic congenital hypothyroidism", "equivalent_identifiers": ["MONDO:0019858", "orphanet:95717", "UMLS:C4273913", "SNOMEDCT:717334008", "medgen:901252"], "information_content": 100.0}
{"id": "MONDO:0019614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary deficiency due to Rathke's pouch cysts", "equivalent_identifiers": ["MONDO:0019614", "orphanet:91350", "UMLS:C5190782", "SNOMEDCT:783009008", "medgen:1676440"], "information_content": 100.0}
{"id": "MONDO:0000179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neu-Laxova syndrome", "equivalent_identifiers": ["MONDO:0000179", "OMIM.PS:256520", "orphanet:2671", "UMLS:C0265218", "MESH:C536405", "SNOMEDCT:77817004", "medgen:78537", "icd11.foundation:893358230"], "information_content": 90.9}
{"id": "MONDO:0007539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, recurrent, of childhood", "equivalent_identifiers": ["MONDO:0007539", "OMIM:130950", "orphanet:2672", "UMLS:C1851708", "MESH:C536407", "SNOMEDCT:1208339007", "medgen:342069"], "information_content": 100.0}
{"id": "MONDO:0009740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurofaciodigitorenal syndrome", "equivalent_identifiers": ["MONDO:0009740", "OMIM:256690", "orphanet:2673", "UMLS:C0796088", "MESH:C537388", "SNOMEDCT:725908007", "medgen:163212"], "information_content": 100.0}
{"id": "MONDO:0019615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary dermoid and epidermoid cysts", "equivalent_identifiers": ["MONDO:0019615", "orphanet:91351", "UMLS:C5190781", "SNOMEDCT:783008000", "medgen:1674582"], "information_content": 100.0}
{"id": "HP:0001117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sudden loss of visual acuity", "equivalent_identifiers": ["HP:0001117", "UMLS:C4025803", "UMLS:C4072828", "UMLS:C4280600"], "information_content": 100.0}
{"id": "MONDO:0019617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary deficiency due to empty sella turcica syndrome", "equivalent_identifiers": ["MONDO:0019617", "orphanet:91354", "UMLS:C4275064", "SNOMEDCT:715668008", "medgen:902244", "icd11.foundation:309067714"], "information_content": 100.0}
{"id": "HP:6000855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cold intolerance", "equivalent_identifiers": ["HP:6000855", "UMLS:C0009269", "MEDDRA:10009863", "SNOMEDCT:80585000"], "information_content": 100.0}
{"id": "MONDO:0015283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternally-inherited cardiomyopathy and hearing loss", "equivalent_identifiers": ["MONDO:0015283", "orphanet:1349", "UMLS:C4510409", "SNOMEDCT:724173009", "medgen:1376897"], "information_content": 100.0}
{"id": "MONDO:0018131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion", "equivalent_identifiers": ["MONDO:0018131", "orphanet:352665", "UMLS:C5679925", "medgen:1842292"], "information_content": 100.0}
{"id": "MONDO:0019618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sheehan syndrome", "equivalent_identifiers": ["MONDO:0019618", "DOID:9476", "orphanet:91355", "UMLS:C0242342", "MEDDRA:10036297", "MEDDRA:10040537", "NCIT:C35300", "SNOMEDCT:237684005", "SNOMEDCT:290653008", "medgen:116569", "icd11.foundation:421687193"], "information_content": 100.0}
{"id": "MONDO:0019611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TSH-secreting pituitary adenoma", "equivalent_identifiers": ["MONDO:0019611", "orphanet:91347", "UMLS:C0346303", "medgen:87550", "icd11.foundation:125504731"], "information_content": 100.0}
{"id": "MONDO:0006996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid crisis", "equivalent_identifiers": ["MONDO:0006996", "DOID:12837", "EFO:1001212", "UMLS:C0040127", "MESH:D013958", "MEDDRA:10011397", "MEDDRA:10043705", "MEDDRA:10043773", "MEDDRA:10043786", "NCIT:C112836", "SNOMEDCT:29028009", "medgen:11813", "icd11.foundation:1215823328", "HP:0011782"], "information_content": 100.0}
{"id": "HP:0030517", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heteronymous hemianopia", "equivalent_identifiers": ["HP:0030517", "UMLS:C0271207", "MEDDRA:10019455", "MEDDRA:10020014", "SNOMEDCT:344104004", "SNOMEDCT:345121001"], "information_content": 90.9}
{"id": "MONDO:0009729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephropathy - deafness - hyperparathyroidism syndrome", "equivalent_identifiers": ["MONDO:0009729", "OMIM:256120", "orphanet:2668", "UMLS:C1850553", "UMLS:C4518325", "MESH:C536401", "SNOMEDCT:724093004", "medgen:340569"], "information_content": 100.0}
{"id": "MONDO:0019613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-functioning pituitary adenoma", "equivalent_identifiers": ["MONDO:0019613", "DOID:5715", "orphanet:91349", "EFO:0008516", "NCIT:C4348", "icd11.foundation:1197752358"], "information_content": 87.2}
{"id": "HP:0011804", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal muscle physiology", "equivalent_identifiers": ["HP:0011804", "UMLS:C4023182"], "information_content": 53.1}
{"id": "MONDO:0019612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "functioning gonadotropic adenoma", "equivalent_identifiers": ["MONDO:0019612", "orphanet:91348", "UMLS:C0346304", "NCIT:C45915", "SNOMEDCT:1156908000", "SNOMEDCT:254960002", "medgen:577353"], "information_content": 92.8}
{"id": "MONDO:0019848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior hypospadias", "equivalent_identifiers": ["MONDO:0019848", "orphanet:95706", "UMLS:C5231010", "SNOMEDCT:818963004", "medgen:1684864"], "information_content": 100.0}
{"id": "HP:0012435", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventral shortening of foreskin", "equivalent_identifiers": ["HP:0012435", "UMLS:C4022905"], "information_content": 100.0}
{"id": "MONDO:0019849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated micropenis", "equivalent_identifiers": ["MONDO:0019849", "orphanet:95707", "UMLS:C5681560", "medgen:1843275"], "information_content": 100.0}
{"id": "MONDO:0007757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperkeratosis-hyperpigmentation syndrome", "equivalent_identifiers": ["MONDO:0007757", "OMIM:144190", "orphanet:1336", "UMLS:C1840428", "MESH:C564172", "medgen:326735"], "information_content": 100.0}
{"id": "MONDO:0011004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly type 3-metacarpal bone dysplasia syndrome", "equivalent_identifiers": ["MONDO:0011004", "OMIM:601160", "orphanet:86822", "UMLS:C1832678", "UMLS:C4305254", "MESH:C563383", "SNOMEDCT:718720007", "medgen:371379"], "information_content": 100.0}
{"id": "MONDO:0100528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hao-Fountain syndrome due to 16p13.2 microdeletion", "equivalent_identifiers": ["MONDO:0100528", "orphanet:500055", "UMLS:C5680086", "SNOMEDCT:1228890005", "medgen:1804697"], "information_content": 100.0}
{"id": "MONDO:0017395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fixed pigmented erythema", "equivalent_identifiers": ["MONDO:0017395", "orphanet:293812", "UMLS:C0221242", "MEDDRA:10016740", "NCIT:C111986", "SNOMEDCT:73692007", "medgen:526203", "icd11.foundation:20014644"], "information_content": 100.0}
{"id": "MONDO:0012126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial avascular necrosis of femoral head", "equivalent_identifiers": ["MONDO:0012126", "OMIM.PS:608805", "orphanet:86820", "UMLS:C0015814", "UMLS:C0524595", "UMLS:C4275066", "MESH:D005271", "NCIT:C35480", "SNOMEDCT:715657008", "medgen:909851", "icd11.foundation:1216860745"], "information_content": 92.8}
{"id": "MONDO:0971063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant dopa-responsive dystonia", "equivalent_identifiers": ["MONDO:0971063", "orphanet:98808", "icd11.foundation:1143673207"], "information_content": 90.9}
{"id": "MONDO:0011262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "equivalent_identifiers": ["MONDO:0011262", "OMIM:602612", "orphanet:1323", "UMLS:C1865133", "UMLS:C2931051", "MESH:C535876", "SNOMEDCT:715986009", "medgen:355918"], "information_content": 100.0}
{"id": "MONDO:0044202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic kinesigenic dyskinesia", "equivalent_identifiers": ["MONDO:0044202", "OMIM.PS:128200", "orphanet:98809", "UMLS:C1868682", "medgen:358268"], "information_content": 90.9}
{"id": "HP:0012647", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal inflammatory response", "equivalent_identifiers": ["HP:0012647", "UMLS:C4022805"], "information_content": 57.6}
{"id": "HP:0003398", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal synaptic transmission at the neuromuscular junction", "equivalent_identifiers": ["HP:0003398", "UMLS:C4020842", "UMLS:C4025618"], "information_content": 74.1}
{"id": "HP:0030113", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal muscle fiber dysferlin", "equivalent_identifiers": ["HP:0030113", "UMLS:C4022632"], "information_content": 92.8}
{"id": "MONDO:0019084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radiation proctitis", "equivalent_identifiers": ["MONDO:0019084", "orphanet:70475", "UMLS:C0400827", "MEDDRA:10037766", "SNOMEDCT:235760009", "medgen:586421", "icd11.foundation:177305885"], "information_content": 100.0}
{"id": "HP:0004296", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal gastrointestinal vascular morphology", "equivalent_identifiers": ["HP:0004296", "UMLS:C4025361"], "information_content": 85.5}
{"id": "MONDO:0019085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vernal keratoconjunctivitis", "equivalent_identifiers": ["MONDO:0019085", "orphanet:70476", "UMLS:C0022577", "MEDDRA:10081000", "SNOMEDCT:317349009", "medgen:9622", "icd11.foundation:670300288"], "information_content": 100.0}
{"id": "HP:0025350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Giant conjunctival papillae", "equivalent_identifiers": ["HP:0025350", "UMLS:C4476720"], "information_content": 100.0}
{"id": "HP:0033841", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ocular pruritus", "equivalent_identifiers": ["HP:0033841", "UMLS:C0022281", "MEDDRA:10015947", "MEDDRA:10023088", "MEDDRA:10023090", "MEDDRA:10030048", "MEDDRA:10052140", "SNOMEDCT:74776002"], "information_content": 100.0}
{"id": "HP:0025447", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Displacement of the papillary muscles", "equivalent_identifiers": ["HP:0025447", "UMLS:C4476783"], "information_content": 92.8}
{"id": "HP:0031650", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal atrioventricular valve physiology", "equivalent_identifiers": ["HP:0031650", "UMLS:C4703462"], "information_content": 80.6}
{"id": "MONDO:0008898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "camptodactyly syndrome, Guadalajara type 1", "equivalent_identifiers": ["MONDO:0008898", "OMIM:211910", "orphanet:1327", "UMLS:C1859359", "MESH:C537970", "SNOMEDCT:720602007", "medgen:395241"], "information_content": 100.0}
{"id": "MONDO:0008899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "camptodactyly syndrome, Guadalajara type 2", "equivalent_identifiers": ["MONDO:0008899", "OMIM:211920", "orphanet:1326", "UMLS:C2931680", "MESH:C537971", "MESH:C567138", "SNOMEDCT:720603002", "medgen:419870"], "information_content": 100.0}
{"id": "MONDO:0017042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thanatophoric dysplasia", "equivalent_identifiers": ["MONDO:0017042", "DOID:13481", "orphanet:2655", "UMLS:C0039743", "MESH:D013796", "MEDDRA:10049808", "MEDDRA:10089187", "NCIT:C85187", "SNOMEDCT:29352008", "medgen:21124", "icd11.foundation:1668919215", "ICD10:Q77.1"], "information_content": 88.2}
{"id": "MONDO:0015272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "camptodactyly-taurinuria syndrome", "equivalent_identifiers": ["MONDO:0015272", "orphanet:1325", "UMLS:C2931681", "UMLS:C4518792", "MESH:C537972", "SNOMEDCT:733466005", "medgen:419871"], "information_content": 100.0}
{"id": "MONDO:0019448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign adult familial myoclonic epilepsy", "equivalent_identifiers": ["MONDO:0019448", "orphanet:86814", "UMLS:C4273988", "SNOMEDCT:717225001", "medgen:908684", "icd11.foundation:1036649329"], "information_content": 100.0}
{"id": "MONDO:0005797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HIV wasting syndrome", "equivalent_identifiers": ["MONDO:0005797", "orphanet:90081", "EFO:0007312", "UMLS:C0343755", "MESH:D019247", "MEDDRA:10050309", "SNOMEDCT:1260096003", "medgen:87476"], "information_content": 100.0}
{"id": "HP:0500012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal gonadotropin-releasing hormone concentration", "equivalent_identifiers": ["HP:0500012", "UMLS:C4477073"], "information_content": 92.8}
{"id": "MONDO:0017394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ketamine-induced biliary dilatation", "equivalent_identifiers": ["MONDO:0017394", "orphanet:293807", "UMLS:C4512018", "SNOMEDCT:726613003", "medgen:1380193"], "information_content": 100.0}
{"id": "MONDO:0008981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile choroidocerebral calcification syndrome", "equivalent_identifiers": ["MONDO:0008981", "OMIM:215480", "orphanet:1313", "UMLS:C1859092", "MESH:C535357", "SNOMEDCT:724228005", "medgen:395174"], "information_content": 100.0}
{"id": "MONDO:0019639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Megacalycosis", "equivalent_identifiers": ["MONDO:0019639", "orphanet:93109", "UMLS:C0266317", "UMLS:C5545379", "NCIT:C123198", "SNOMEDCT:1137561000", "SNOMEDCT:85901000", "medgen:1782490", "icd11.foundation:954627950"], "information_content": 92.8}
{"id": "MONDO:0019638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal dysplasia", "equivalent_identifiers": ["MONDO:0019638", "orphanet:93108", "medgen:760690", "icd11.foundation:921320354"], "information_content": 92.8}
{"id": "HP:0011130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal calyx morphology", "equivalent_identifiers": ["HP:0011130", "UMLS:C4023522"], "information_content": 89.4}
{"id": "HP:0012575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nephron morphology", "equivalent_identifiers": ["HP:0012575", "UMLS:C4022838"], "information_content": 61.5}
{"id": "MONDO:0009616", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic primordial dwarfism, Toriello type", "equivalent_identifiers": ["MONDO:0009616", "OMIM:251190", "orphanet:2643", "UMLS:C1855089", "MESH:C537321", "SNOMEDCT:715482004", "medgen:381556", "icd11.foundation:279033035"], "information_content": 100.0}
{"id": "MONDO:0015269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symmetrical thalamic calcifications", "equivalent_identifiers": ["MONDO:0015269", "orphanet:1314", "UMLS:C4304914", "SNOMEDCT:719164000", "medgen:930583"], "information_content": 100.0}
{"id": "MONDO:0008618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesomelic dwarfism, Reinhardt-Pfeiffer type", "equivalent_identifiers": ["MONDO:0008618", "OMIM:191400", "orphanet:2634", "UMLS:C1860616", "MESH:C537349", "SNOMEDCT:715472000", "medgen:395935", "icd11.foundation:1393171517"], "information_content": 100.0}
{"id": "HP:0010558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the clivus", "equivalent_identifiers": ["HP:0010558", "UMLS:C4023791"], "information_content": 95.4}
{"id": "HP:0010825", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the eleventh cranial nerve", "equivalent_identifiers": ["HP:0010825", "UMLS:C4021225"], "information_content": 95.4}
{"id": "HP:0010826", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the twelfth cranial nerve", "equivalent_identifiers": ["HP:0010826", "UMLS:C4021224"], "information_content": 89.4}
{"id": "HP:0011389", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Functional abnormality of the inner ear", "equivalent_identifiers": ["HP:0011389", "UMLS:C4023382"], "information_content": 63.5}
{"id": "HP:0025421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pneumomediastinum", "equivalent_identifiers": ["HP:0025421", "NCIT:C98981", "UMLS:C0025062", "MEDDRA:10027073", "MEDDRA:10050184", "SNOMEDCT:16838000", "MESH:D008478"], "information_content": 100.0}
{"id": "MONDO:0016994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic osteodysplastic primordial dwarfism types I and III", "equivalent_identifiers": ["MONDO:0016994", "orphanet:2636", "UMLS:C4319565", "SNOMEDCT:725461009", "medgen:1380769"], "information_content": 92.8}
{"id": "MONDO:0017398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3MC syndrome", "equivalent_identifiers": ["MONDO:0017398", "DOID:0060225", "OMIM.PS:257920", "orphanet:293843", "UMLS:C4303860", "SNOMEDCT:720756005", "medgen:929529", "icd11.foundation:1294329406"], "information_content": 90.9}
{"id": "MONDO:0015268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medullary sponge kidney", "equivalent_identifiers": ["MONDO:0015268", "orphanet:1309", "UMLS:C0022681", "MESH:D007691", "MEDDRA:10027104", "MEDDRA:10089534", "NCIT:C34751", "SNOMEDCT:236443009", "medgen:5970", "icd11.foundation:1723148250"], "information_content": 100.0}
{"id": "orphanet:90064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute peripheral arterial occlusion", "equivalent_identifiers": ["orphanet:90064"]}
{"id": "HP:0025018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal capillary physiology", "equivalent_identifiers": ["HP:0025018", "UMLS:C4293697"], "information_content": 92.8}
{"id": "HP:0030846", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of venous physiology", "equivalent_identifiers": ["HP:0030846", "UMLS:C4280744"], "information_content": 79.3}
{"id": "HP:0031271", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent ankle pulse", "equivalent_identifiers": ["HP:0031271", "UMLS:C4531233"], "information_content": 100.0}
{"id": "MONDO:0019543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired aneurysmal subarachnoid hemorrhage", "equivalent_identifiers": ["MONDO:0019543", "orphanet:90065", "UMLS:C0338572", "SNOMEDCT:230719004", "medgen:572642", "icd11.foundation:958976948"], "information_content": 100.0}
{"id": "HP:0009145", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebral artery morphology", "equivalent_identifiers": ["HP:0009145", "UMLS:C4021520"], "information_content": 79.9}
{"id": "MONDO:0018613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AH amyloidosis", "equivalent_identifiers": ["MONDO:0018613", "DOID:0080934", "orphanet:442582", "UMLS:C5204115", "NCIT:C158962", "SNOMEDCT:1231149005", "medgen:1684787", "icd11.foundation:1511136608"], "information_content": 100.0}
{"id": "MONDO:0017794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xq12-q13.3 duplication syndrome", "equivalent_identifiers": ["MONDO:0017794", "orphanet:314389", "UMLS:C4707094", "SNOMEDCT:764711007", "medgen:1648034"], "information_content": 100.0}
{"id": "MONDO:0015267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Feingold syndrome", "equivalent_identifiers": ["MONDO:0015267", "DOID:0060464", "OMIM.PS:164280", "orphanet:1305", "UMLS:C0796068", "MESH:C537734", "MEDDRA:10086623", "MEDDRA:10086632", "MEDDRA:10086634", "NCIT:C74987", "medgen:163209"], "information_content": 92.8}
{"id": "MONDO:0005683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brucellosis", "equivalent_identifiers": ["MONDO:0005683", "DOID:11077", "orphanet:1304", "EFO:0007185", "UMLS:C0006309", "MESH:D002006", "MEDDRA:10006495", "MEDDRA:10006500", "MEDDRA:10026726", "MEDDRA:10027094", "MEDDRA:10045517", "MEDDRA:10045646", "NCIT:C84602", "SNOMEDCT:75702008", "medgen:674", "icd11.foundation:730510331", "ICD10:A23", "ICD9:023"], "information_content": 89.4}
{"id": "HP:0025155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hepatobiliary system physiology", "equivalent_identifiers": ["HP:0025155", "UMLS:C4476621"], "information_content": 72.4}
{"id": "HP:0030250", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pulmonary granulomatosis", "equivalent_identifiers": ["HP:0030250", "UMLS:C0856628", "MEDDRA:10037393"], "information_content": 90.9}
{"id": "MONDO:0019544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cocaine intoxication", "equivalent_identifiers": ["MONDO:0019544", "orphanet:90068", "UMLS:C0009176", "SNOMEDCT:27956007", "icd11.foundation:1965837313"], "information_content": 100.0}
{"id": "HP:0025174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular septal thickening on pulmonary HRCT", "equivalent_identifiers": ["HP:0025174", "UMLS:C4476635"], "information_content": 100.0}
{"id": "MONDO:0000127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geleophysic dysplasia", "equivalent_identifiers": ["MONDO:0000127", "DOID:0111724", "OMIM.PS:231050", "orphanet:2623", "UMLS:C3489726", "MEDDRA:10063361", "SNOMEDCT:28557005", "medgen:483679", "icd11.foundation:518828851"], "information_content": 90.9}
{"id": "orphanet:90051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sepsis in premature infants", "equivalent_identifiers": ["orphanet:90051"]}
{"id": "HP:0004713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reversible renal failure", "equivalent_identifiers": ["HP:0004713", "UMLS:C1843276"], "information_content": 100.0}
{"id": "MONDO:0043797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal cord injury", "equivalent_identifiers": ["MONDO:0043797", "orphanet:90058", "EFO:1001919", "UMLS:C0037929", "MESH:D013119", "MEDDRA:10041552", "NCIT:C50750", "SNOMEDCT:90584004"], "information_content": 95.4}
{"id": "HP:0011575", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Imperforate tricuspid valve", "equivalent_identifiers": ["HP:0011575", "UMLS:C4023292"], "information_content": 100.0}
{"id": "HP:0003862", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent humerus", "equivalent_identifiers": ["HP:0003862", "UMLS:C2678399", "SNOMEDCT:1145460003"], "information_content": 100.0}
{"id": "HP:0003902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epiphyseal stippling of the humerus", "equivalent_identifiers": ["HP:0003902", "UMLS:C4021711"], "information_content": 100.0}
{"id": "HP:0008752", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laryngeal cartilage malformation", "equivalent_identifiers": ["HP:0008752", "UMLS:C4021530"], "information_content": 100.0}
{"id": "HP:0004664", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial midline hemangioma", "equivalent_identifiers": ["HP:0004664", "UMLS:C1862496"], "information_content": 100.0}
{"id": "MONDO:0018475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PRKAR1B-related neurodegenerative dementia with intermediate filaments", "equivalent_identifiers": ["MONDO:0018475", "orphanet:412066", "UMLS:C4751505", "SNOMEDCT:774069007", "medgen:1654800"], "information_content": 100.0}
{"id": "HP:0007373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor neuron atrophy", "equivalent_identifiers": ["HP:0007373", "UMLS:C4024896"], "information_content": 74.9}
{"id": "HP:0025457", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CSF protein concentration", "equivalent_identifiers": ["HP:0025457", "UMLS:C4476790", "MEDDRA:10008179", "MEDDRA:10011574"], "information_content": 95.4}
{"id": "HP:0020037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Astasia", "equivalent_identifiers": ["HP:0020037", "UMLS:C0234966", "MEDDRA:10003545"], "information_content": 100.0}
{"id": "HP:0030194", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatigable weakness of speech muscles", "equivalent_identifiers": ["HP:0030194", "UMLS:C4022589"], "information_content": 100.0}
{"id": "HP:0100899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerosis of finger phalanx", "equivalent_identifiers": ["HP:0100899", "UMLS:C4020941"], "information_content": 71.8}
{"id": "MONDO:0015995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melorheostosis with osteopoikilosis", "equivalent_identifiers": ["MONDO:0015995", "orphanet:1879", "UMLS:C3149695", "MESH:C563593", "SNOMEDCT:1197053003", "medgen:461045", "icd11.foundation:152942585"], "information_content": 100.0}
{"id": "HP:0010001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete duplication of the distal phalanges of the hand", "equivalent_identifiers": ["HP:0010001", "UMLS:C4024118"], "information_content": 88.2}
{"id": "MONDO:0018443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome", "equivalent_identifiers": ["MONDO:0018443", "orphanet:404451", "UMLS:C4751506", "SNOMEDCT:774070008", "medgen:1650412"], "information_content": 100.0}
{"id": "MONDO:0010115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracic dysplasia-hydrocephalus syndrome", "equivalent_identifiers": ["MONDO:0010115", "OMIM:273730", "orphanet:1861", "UMLS:C1848864", "MESH:C564774", "SNOMEDCT:782951006", "medgen:338562"], "information_content": 100.0}
{"id": "HP:0011361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital abnormal hair pattern", "equivalent_identifiers": ["HP:0011361", "UMLS:C4023398"], "information_content": 80.9}
{"id": "HP:0032548", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased placental thickness", "equivalent_identifiers": ["HP:0032548", "UMLS:C5209284"], "information_content": 100.0}
{"id": "MONDO:0011885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tubulointerstitial nephritis and uveitis syndrome", "equivalent_identifiers": ["MONDO:0011885", "OMIM:607665", "orphanet:91500", "UMLS:C1843273", "MESH:C536922", "MEDDRA:10069034", "MEDDRA:10069039", "NCIT:C123021", "SNOMEDCT:418839003", "medgen:334715"], "information_content": 100.0}
{"id": "HP:0032589", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal lymphocytic tubulitis", "equivalent_identifiers": ["HP:0032589", "UMLS:C5397613"], "information_content": 100.0}
{"id": "HP:0032590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal neutrophilic tubulitis", "equivalent_identifiers": ["HP:0032590", "UMLS:C5397614"], "information_content": 100.0}
{"id": "HP:0032637", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal interstitial edema", "equivalent_identifiers": ["HP:0032637", "UMLS:C5397654"], "information_content": 100.0}
{"id": "MONDO:0006806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intermediate uveitis", "equivalent_identifiers": ["MONDO:0006806", "DOID:12732", "orphanet:279914", "EFO:1000986", "UMLS:C0042166", "MESH:D015867", "MEDDRA:10022557", "MEDDRA:10034631", "NCIT:C35110", "SNOMEDCT:314429009", "medgen:22596", "icd11.foundation:892860325", "HP:0012124"], "information_content": 92.8}
{"id": "HP:0031616", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior chamber flare", "equivalent_identifiers": ["HP:0031616", "UMLS:C0423281", "MEDDRA:10052127", "SNOMEDCT:246992005"], "information_content": 89.4}
{"id": "HP:0011525", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris nevus", "equivalent_identifiers": ["HP:0011525", "NCIT:C4556", "UMLS:C0346376", "MEDDRA:10051044", "MEDDRA:10062795", "SNOMEDCT:95711003"], "information_content": 100.0}
{"id": "HP:0030735", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureterovesical junction obstruction", "equivalent_identifiers": ["HP:0030735", "UMLS:C2609249", "MEDDRA:10068806", "SNOMEDCT:1259363003"], "information_content": 95.4}
{"id": "HP:0030355", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating interferon-gamma concentration", "equivalent_identifiers": ["HP:0030355", "UMLS:C4072899"], "information_content": 92.8}
{"id": "MONDO:0018671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related kidney disease", "equivalent_identifiers": ["MONDO:0018671", "orphanet:449395", "UMLS:C5392056", "SNOMEDCT:1187507004", "medgen:1708840", "icd11.foundation:1877692678"], "information_content": 100.0}
{"id": "HP:0032298", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating IgG1 level", "equivalent_identifiers": ["HP:0032298", "UMLS:C5139255"], "information_content": 100.0}
{"id": "HP:0025633", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ureter morphology", "equivalent_identifiers": ["HP:0025633", "UMLS:C5139102"], "information_content": 74.7}
{"id": "HP:0031093", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal breast morphology", "equivalent_identifiers": ["HP:0031093", "UMLS:C4531292"], "information_content": 73.8}
{"id": "MONDO:0018680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous pseudolymphoma", "equivalent_identifiers": ["MONDO:0018680", "orphanet:451607", "UMLS:C0311220", "MEDDRA:10066171", "NCIT:C62776", "SNOMEDCT:128862000", "medgen:81385", "icd11.foundation:1620802923", "HP:0031549"], "information_content": 100.0}
{"id": "MONDO:0850073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-syndromic unicoronal craniosynostosis", "equivalent_identifiers": ["MONDO:0850073", "orphanet:620102", "UMLS:C5680401", "medgen:1842408"], "information_content": 100.0}
{"id": "HP:0010322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fifth toe morphology", "equivalent_identifiers": ["HP:0010322", "UMLS:C4023905"], "information_content": 68.5}
{"id": "MONDO:0015357", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary hypoparathyroidism due to impaired parathormon secretion", "equivalent_identifiers": ["MONDO:0015357", "orphanet:140286", "UMLS:C4305428", "SNOMEDCT:717895004", "medgen:931097", "icd11.foundation:1229357339"], "information_content": 100.0}
{"id": "HP:6000919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trousseau sign", "equivalent_identifiers": ["HP:6000919", "UMLS:C0234181", "MEDDRA:10071284", "SNOMEDCT:112099006"], "information_content": 100.0}
{"id": "MONDO:0016318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive multifocal leukoencephalopathy", "equivalent_identifiers": ["MONDO:0016318", "DOID:643", "orphanet:217260", "EFO:0007455", "UMLS:C0023524", "MESH:D007968", "MEDDRA:10036806", "MEDDRA:10036807", "NCIT:C26815", "SNOMEDCT:22255007", "medgen:7327", "icd11.foundation:902939755", "ICD10:A81.2", "ICD9:046.3"], "information_content": 100.0}
{"id": "HP:0100706", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal oligodendroglia morphology", "equivalent_identifiers": ["HP:0100706", "UMLS:C4021992"], "information_content": 88.2}
{"id": "HP:0025479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Self-neglect", "equivalent_identifiers": ["HP:0025479", "UMLS:C0424359", "SNOMEDCT:248054003", "MESH:D000077711"], "information_content": 100.0}
{"id": "HP:0030516", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Homonymous hemianopia", "equivalent_identifiers": ["HP:0030516", "UMLS:C0271202", "MEDDRA:10019456", "MEDDRA:10020368", "SNOMEDCT:34063005"], "information_content": 95.4}
{"id": "MONDO:0008878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone dysplasia, lethal Holmgren type", "equivalent_identifiers": ["MONDO:0008878", "OMIM:211120", "orphanet:1842", "UMLS:C1859407", "MESH:C565896", "SNOMEDCT:732249002", "medgen:347872"], "information_content": 100.0}
{"id": "MONDO:0016504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary unilateral adrenal hyperplasia", "equivalent_identifiers": ["MONDO:0016504", "orphanet:231580", "UMLS:C4274967", "SNOMEDCT:715868005", "medgen:905007", "icd11.foundation:1653668765"], "information_content": 100.0}
{"id": "MONDO:0018694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated tracheo-esophageal fistula", "equivalent_identifiers": ["MONDO:0018694", "orphanet:454750", "NCIT:C35080"], "information_content": 92.8}
{"id": "HP:0005230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Biliary tract obstruction", "equivalent_identifiers": ["HP:0005230", "NCIT:C60698", "UMLS:C0400979", "MEDDRA:10084247", "SNOMEDCT:235918000"], "information_content": 89.4}
{"id": "HP:0040201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simultanapraxia", "equivalent_identifiers": ["HP:0040201", "UMLS:C4073149"], "information_content": 100.0}
{"id": "MONDO:0034092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome", "equivalent_identifiers": ["MONDO:0034092", "orphanet:543470", "UMLS:C5681321", "SNOMEDCT:1222655009", "medgen:1807322"], "information_content": 100.0}
{"id": "HP:0012794", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periventricular white matter hypodensities", "equivalent_identifiers": ["HP:0012794", "UMLS:C4022720"], "information_content": 100.0}
{"id": "MONDO:0100429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intrahepatic cholestasis of pregnancy", "equivalent_identifiers": ["MONDO:0100429", "DOID:0070227", "orphanet:69665", "EFO:0009048", "UMLS:C0268318", "MESH:C535932", "MEDDRA:10049055", "MEDDRA:10088491", "medgen:82788", "icd11.foundation:1576251337"], "information_content": 92.8}
{"id": "HP:0030900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pruritus on foot", "equivalent_identifiers": ["HP:0030900", "UMLS:C0239653", "MEDDRA:10086654"], "information_content": 100.0}
{"id": "HP:0031248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar pruritus", "equivalent_identifiers": ["HP:0031248", "UMLS:C0240649"], "information_content": 100.0}
{"id": "HP:0410373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal naive CD4-positive T cell proportion", "equivalent_identifiers": ["HP:0410373", "UMLS:C5139534"], "information_content": 92.8}
{"id": "HP:0006344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal primary molar morphology", "equivalent_identifiers": ["HP:0006344", "UMLS:C4025059"], "information_content": 100.0}
{"id": "MONDO:0021081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anti-NMDA receptor encephalitis", "equivalent_identifiers": ["MONDO:0021081", "orphanet:217253", "UMLS:C2986717", "UMLS:C5700343", "MESH:D060426", "MEDDRA:10072379", "NCIT:C94853", "SNOMEDCT:1259087007", "SNOMEDCT:452281000124106", "SNOMEDCT:716684004", "medgen:458943", "icd11.foundation:1568915618"], "information_content": 100.0}
{"id": "HP:0032264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-NMDA receptor antibody positivity", "equivalent_identifiers": ["HP:0032264", "UMLS:C5139229"], "information_content": 100.0}
{"id": "HP:0032266", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CSF anti-NMDA receptor antibody positivity", "equivalent_identifiers": ["HP:0032266", "UMLS:C5139231"], "information_content": 100.0}
{"id": "HP:0012333", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal sudomotor regulation", "equivalent_identifiers": ["HP:0012333", "UMLS:C4021092"], "information_content": 100.0}
{"id": "MONDO:0018193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular teratoma", "equivalent_identifiers": ["MONDO:0018193", "orphanet:363483", "EFO:1000573", "UMLS:C0238451", "MESH:C562472", "MEDDRA:10043278", "MEDDRA:10043279", "NCIT:C3877", "SNOMEDCT:255106001", "medgen:68669", "HP:0100616"], "information_content": 82.6}
{"id": "MONDO:0015678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysplasia of head of femur, Meyer type", "equivalent_identifiers": ["MONDO:0015678", "orphanet:168621", "UMLS:C4274970", "SNOMEDCT:715861004", "medgen:909364", "icd11.foundation:381445908"], "information_content": 100.0}
{"id": "MONDO:0015944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "axial mesodermal dysplasia spectrum", "equivalent_identifiers": ["MONDO:0015944", "orphanet:1834", "UMLS:C2931613", "MESH:C537790", "SNOMEDCT:765755006", "medgen:419853"], "information_content": 100.0}
{"id": "HP:0003800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle abnormality related to mitochondrial dysfunction", "equivalent_identifiers": ["HP:0003800", "UMLS:C4025566"], "information_content": 87.2}
{"id": "MONDO:0007511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia, trichoodontoonychial type", "equivalent_identifiers": ["MONDO:0007511", "OMIM:129510", "orphanet:1818", "UMLS:C1851858", "MESH:C565068", "SNOMEDCT:734018003", "medgen:338798"], "information_content": 100.0}
{"id": "HP:0007521", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular hyperpigmentation of back", "equivalent_identifiers": ["HP:0007521", "UMLS:C4024854"], "information_content": 100.0}
{"id": "MONDO:0015942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontometaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0015942", "DOID:0111785", "OMIM.PS:305620", "orphanet:1826", "UMLS:C0265293", "MESH:C538064", "SNOMEDCT:62803002", "medgen:82703", "icd11.foundation:1767187670"], "information_content": 92.8}
{"id": "MONDO:0015941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia-hearing loss-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0015941", "orphanet:1825", "UMLS:C4707857", "SNOMEDCT:766870005", "medgen:1643947"], "information_content": 100.0}
{"id": "MONDO:0015883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hidrotic ectodermal dysplasia, Halal type", "equivalent_identifiers": ["MONDO:0015883", "orphanet:1809", "UMLS:C2930953", "MESH:C535621", "SNOMEDCT:721147000", "medgen:443941", "icd11.foundation:1668450131"], "information_content": 100.0}
{"id": "MONDO:0017082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal encephalocele", "equivalent_identifiers": ["MONDO:0017082", "orphanet:268829", "UMLS:C4023176", "SNOMEDCT:838339009", "medgen:868771", "icd11.foundation:533416539", "HP:0011817"], "information_content": 100.0}
{"id": "MONDO:0011063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hidrotic ectodermal dysplasia, Christianson-Fourie type", "equivalent_identifiers": ["MONDO:0011063", "OMIM:601375", "orphanet:1808", "UMLS:C1832411", "MESH:C536180", "SNOMEDCT:771239007", "medgen:371322", "icd11.foundation:661397711"], "information_content": 100.0}
{"id": "MONDO:0019633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "relapsing fever", "equivalent_identifiers": ["MONDO:0019633", "DOID:13034", "orphanet:91547", "UMLS:C0035021", "MESH:D012061", "MEDDRA:10038300", "MEDDRA:10046134", "SNOMEDCT:420079008", "medgen:48397", "icd11.foundation:965498095", "ICD10:A68", "ICD9:087"], "information_content": 92.8}
{"id": "MONDO:0019632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lyme disease", "equivalent_identifiers": ["MONDO:0019632", "DOID:11729", "orphanet:91546", "EFO:0008510", "UMLS:C0024198", "UMLS:C0752235", "UMLS:C5779706", "MESH:D008193", "MESH:D020852", "MEDDRA:10006036", "MEDDRA:10025169", "MEDDRA:10025170", "MEDDRA:10067559", "NCIT:C45161", "SNOMEDCT:1269516003", "SNOMEDCT:23502006", "SNOMEDCT:48982009", "SNOMEDCT:715507005", "medgen:44213", "icd11.foundation:1600014919", "ICD10:A69.2", "ICD9:088.81"], "information_content": 88.2}
{"id": "MONDO:0009522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Berlin syndrome", "equivalent_identifiers": ["MONDO:0009522", "OMIM:246500", "orphanet:1816", "UMLS:C0406729", "UMLS:C1855504", "MESH:C565440", "SNOMEDCT:239032007", "medgen:383698"], "information_content": 100.0}
{"id": "MONDO:0009149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome", "equivalent_identifiers": ["MONDO:0009149", "OMIM:225040", "orphanet:1812", "UMLS:C1857053", "MESH:C565605", "medgen:347363"], "information_content": 100.0}
{"id": "MONDO:0001179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pinguecula", "equivalent_identifiers": ["MONDO:0001179", "DOID:11029", "EFO:1001824", "UMLS:C0152255", "MESH:D059407", "MEDDRA:10035060", "MEDDRA:10035061", "MEDDRA:10035062", "NCIT:C129468", "SNOMEDCT:87614000", "medgen:56273", "ICD10:H11.15", "ICD9:372.51", "HP:0031830"], "information_content": 100.0}
{"id": "MONDO:0015884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hypohidrotic ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0015884", "orphanet:1810", "UMLS:C0265331", "medgen:539190", "icd11.foundation:222258115"], "information_content": 92.8}
{"id": "orphanet:77258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trichorhinophalangeal syndrome type 1", "equivalent_identifiers": ["orphanet:77258"]}
{"id": "MONDO:0016099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "overlap myositis", "equivalent_identifiers": ["MONDO:0016099", "orphanet:206572", "UMLS:C5679784", "SNOMEDCT:1231749004", "medgen:1814440"], "information_content": 100.0}
{"id": "HP:0030859", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-topoisomerase I antibody positivity", "equivalent_identifiers": ["HP:0030859", "UMLS:C4280741"], "information_content": 100.0}
{"id": "HP:0033560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-PM-Scl antibody positivity", "equivalent_identifiers": ["HP:0033560", "UMLS:C5539685"], "information_content": 92.8}
{"id": "HP:0034088", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Ku antibody positivity", "equivalent_identifiers": ["HP:0034088", "UMLS:C5676684"], "information_content": 100.0}
{"id": "HP:0100296", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perifascicular muscle fiber atrophy", "equivalent_identifiers": ["HP:0100296", "UMLS:C0333757", "SNOMEDCT:87196003"], "information_content": 100.0}
{"id": "HP:0004269", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subluxation of the small joints of the hand", "equivalent_identifiers": ["HP:0004269", "UMLS:C4025380"], "information_content": 100.0}
{"id": "MONDO:0019266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SAPHO syndrome", "equivalent_identifiers": ["MONDO:0019266", "DOID:13677", "orphanet:793", "EFO:1001164", "UMLS:C0263859", "MESH:D020083", "MEDDRA:10051316", "NCIT:C119049", "NCIT:C84530", "SNOMEDCT:60684003", "medgen:120490", "icd11.foundation:1901494067"], "information_content": 100.0}
{"id": "MONDO:0017939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Classic MmD", "equivalent_identifiers": ["MONDO:0017939", "orphanet:324604", "UMLS:C5679883", "medgen:1826166"], "information_content": 100.0}
{"id": "HP:0025244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subretinal pigment epithelium hemorrhage", "equivalent_identifiers": ["HP:0025244", "UMLS:C2037047"], "information_content": 100.0}
{"id": "MONDO:0016722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pineoblastoma", "equivalent_identifiers": ["MONDO:0016722", "DOID:1664", "orphanet:251909", "EFO:1000475", "UMLS:C0205898", "MEDDRA:10035056", "MEDDRA:10035058", "MEDDRA:10050487", "NCIT:C9344", "SNOMEDCT:31671006", "SNOMEDCT:767448007", "medgen:104745", "HP:0030408"], "information_content": 80.6}
{"id": "HP:0000493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal foveal morphology", "equivalent_identifiers": ["HP:0000493", "UMLS:C4025849"], "information_content": 82.6}
{"id": "HP:0030488", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal central response of multifocal electroretinogram", "equivalent_identifiers": ["HP:0030488", "UMLS:C4072978"], "information_content": 100.0}
{"id": "HP:0030610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Photoreceptor outer segment loss on macular OCT", "equivalent_identifiers": ["HP:0030610", "UMLS:C4073080"], "information_content": 100.0}
{"id": "MONDO:0015533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign cephalic histiocytosis", "equivalent_identifiers": ["MONDO:0015533", "orphanet:157997", "UMLS:C0347403", "SNOMEDCT:255192005", "medgen:578000", "icd11.foundation:339468256"], "information_content": 100.0}
{"id": "MONDO:0015532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized eruptive histiocytosis", "equivalent_identifiers": ["MONDO:0015532", "orphanet:157991", "UMLS:C0347404", "SNOMEDCT:110980006", "medgen:578001"], "information_content": 100.0}
{"id": "HP:0031871", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal Langerhans cell morphology", "equivalent_identifiers": ["HP:0031871", "UMLS:C4703585"], "information_content": 95.4}
{"id": "MONDO:0017013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 8p", "equivalent_identifiers": ["MONDO:0017013", "orphanet:264450", "UMLS:C0795825", "MESH:C538019", "SNOMEDCT:768929003", "medgen:167072"], "information_content": 100.0}
{"id": "HP:0009913", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the tragus", "equivalent_identifiers": ["HP:0009913", "UMLS:C4024161"], "information_content": 92.8}
{"id": "HP:0040018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clinodactyly of hallux", "equivalent_identifiers": ["HP:0040018", "UMLS:C4022488", "UMLS:C4280299"], "information_content": 100.0}
{"id": "HP:0011546", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal atrioventricular connection", "equivalent_identifiers": ["HP:0011546", "UMLS:C0344612", "SNOMEDCT:253274005"], "information_content": 80.9}
{"id": "MONDO:0017880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rift valley fever", "equivalent_identifiers": ["MONDO:0017880", "DOID:1328", "orphanet:319251", "UMLS:C0035613", "MESH:D012295", "MEDDRA:10039143", "MEDDRA:10039145", "NCIT:C128419", "SNOMEDCT:402917003", "medgen:20589", "icd11.foundation:854137188", "ICD10:A92.4"], "information_content": 100.0}
{"id": "MONDO:0017309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal Marfan syndrome", "equivalent_identifiers": ["MONDO:0017309", "orphanet:284979", "UMLS:C4016054", "SNOMEDCT:763839005", "medgen:864491", "icd11.foundation:1102890898"], "information_content": 100.0}
{"id": "MONDO:0020472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Turner syndrome due to structural X chromosome anomalies", "equivalent_identifiers": ["MONDO:0020472", "orphanet:99413", "UMLS:C5681631", "medgen:1842425"], "information_content": 100.0}
{"id": "MONDO:0019188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rubinstein-Taybi syndrome", "equivalent_identifiers": ["MONDO:0019188", "DOID:1933", "OMIM.PS:180849", "orphanet:783", "UMLS:C0035934", "MESH:D012415", "MEDDRA:10039281", "NCIT:C75466", "SNOMEDCT:45582004", "medgen:48517", "icd11.foundation:692585833"], "information_content": 88.2}
{"id": "HP:0010679", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated tissue non-specific alkaline phosphatase", "equivalent_identifiers": ["HP:0010679", "UMLS:C4021240"], "information_content": 90.9}
{"id": "HP:0100133", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the pubic hair", "equivalent_identifiers": ["HP:0100133", "UMLS:C4022288"], "information_content": 92.8}
{"id": "MONDO:0018323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HSD10 disease, neonatal type", "equivalent_identifiers": ["MONDO:0018323", "orphanet:391457", "UMLS:C5680026", "medgen:1842355"], "information_content": 100.0}
{"id": "MONDO:0019186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Q fever", "equivalent_identifiers": ["MONDO:0019186", "DOID:11100", "orphanet:781", "EFO:0005224", "UMLS:C0034362", "MESH:D011778", "MEDDRA:10011250", "MEDDRA:10037688", "MEDDRA:10037692", "MEDDRA:10067588", "NCIT:C34970", "SNOMEDCT:186788009", "medgen:48290", "icd11.foundation:2113860626", "ICD10:A78", "ICD9:083.0"], "information_content": 100.0}
{"id": "MONDO:0035452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mueller-weiss syndrome", "equivalent_identifiers": ["MONDO:0035452", "orphanet:566943", "UMLS:C4761149", "MEDDRA:10082326", "SNOMEDCT:1222676004", "medgen:1708314"], "information_content": 100.0}
{"id": "HP:0100339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the os naviculare pedis", "equivalent_identifiers": ["HP:0100339", "UMLS:C4022141"], "information_content": 90.9}
{"id": "HP:0100535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibiofibular diastasis", "equivalent_identifiers": ["HP:0100535", "UMLS:C4022029"], "information_content": 100.0}
{"id": "MONDO:0035423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triglyceride deposit cardiomyovasculopathy", "equivalent_identifiers": ["MONDO:0035423", "orphanet:565612", "UMLS:C5680124", "SNOMEDCT:1279844009", "medgen:1830096"], "information_content": 100.0}
{"id": "HP:0032141", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Precordial pain", "equivalent_identifiers": ["HP:0032141", "UMLS:C0232286", "MEDDRA:10008483", "MEDDRA:10033483", "MEDDRA:10036522", "SNOMEDCT:71884009"], "information_content": 100.0}
{"id": "MONDO:0001876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal artery atheroma", "equivalent_identifiers": ["MONDO:0001876", "DOID:14092", "UMLS:C0155734", "MEDDRA:10003616", "MEDDRA:10038375", "NCIT:C197846", "SNOMEDCT:45281005", "medgen:510062", "ICD10:I70.1", "ICD9:440.1", "HP:0031684"], "information_content": 100.0}
{"id": "MONDO:0018355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SIM1-related Prader-Willi-like syndrome", "equivalent_identifiers": ["MONDO:0018355", "orphanet:398079", "UMLS:C5680040", "SNOMEDCT:1229943004", "medgen:1802084"], "information_content": 100.0}
{"id": "MONDO:0017786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2q23.1 microduplication syndrome", "equivalent_identifiers": ["MONDO:0017786", "orphanet:313947", "UMLS:C4707847", "SNOMEDCT:766816008", "medgen:1647644"], "information_content": 100.0}
{"id": "MONDO:0016098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immune-mediated necrotizing myopathy", "equivalent_identifiers": ["MONDO:0016098", "orphanet:206569", "UMLS:C3267047", "MEDDRA:10072155", "MEDDRA:10072156", "SNOMEDCT:715863001", "medgen:899492"], "information_content": 100.0}
{"id": "HP:0033708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity", "equivalent_identifiers": ["HP:0033708", "UMLS:C5539770"], "information_content": 100.0}
{"id": "HP:0033713", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-signal recognition particle antibody positivity", "equivalent_identifiers": ["HP:0033713", "UMLS:C5539774"], "information_content": 100.0}
{"id": "MONDO:0015627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia due to collagen 9 anomaly", "equivalent_identifiers": ["MONDO:0015627", "DOID:0070305", "orphanet:166002", "UMLS:C4707798", "SNOMEDCT:766717008", "medgen:1647610", "icd11.foundation:741183905"], "information_content": 90.9}
{"id": "HP:0003999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of radial epiphyses", "equivalent_identifiers": ["HP:0003999", "UMLS:C4021694"], "information_content": 76.0}
{"id": "HP:0009189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fragmentation of the metacarpal epiphyses", "equivalent_identifiers": ["HP:0009189", "UMLS:C4024547"], "information_content": 87.2}
{"id": "HP:0010631", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the epiphyses of the feet", "equivalent_identifiers": ["HP:0010631", "UMLS:C4023769"], "information_content": 63.4}
{"id": "MONDO:0016102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subacute inflammatory demyelinating polyneuropathy", "equivalent_identifiers": ["MONDO:0016102", "orphanet:206594", "UMLS:C0456517", "SNOMEDCT:277189006", "medgen:629329", "icd11.foundation:1692167541"], "information_content": 100.0}
{"id": "HP:0006881", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse peripheral demyelination", "equivalent_identifiers": ["HP:0006881", "UMLS:C4024971"], "information_content": 100.0}
{"id": "MONDO:0018763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tubulinopathy-associated dysgyria", "equivalent_identifiers": ["MONDO:0018763", "orphanet:467166", "UMLS:C5568850", "SNOMEDCT:1187215002", "medgen:1800273"], "information_content": 100.0}
{"id": "HP:0012502", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the internal capsule", "equivalent_identifiers": ["HP:0012502", "UMLS:C4022875"], "information_content": 87.2}
{"id": "HP:0020214", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Startle-induced seizure", "equivalent_identifiers": ["HP:0020214", "UMLS:C5397592"], "information_content": 100.0}
{"id": "MONDO:0018353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "refractory celiac disease", "equivalent_identifiers": ["MONDO:0018353", "orphanet:398063", "EFO:0009266", "UMLS:C4749333", "MEDDRA:10090059", "NCIT:C200033", "SNOMEDCT:770593004", "medgen:1670595"], "information_content": 83.6}
{"id": "HP:0025409", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal spleen physiology", "equivalent_identifiers": ["HP:0025409", "UMLS:C4476762"], "information_content": 84.2}
{"id": "HP:0033143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jejunitis", "equivalent_identifiers": ["HP:0033143", "UMLS:C0341276", "MEDDRA:10052332", "SNOMEDCT:80805005"], "information_content": 100.0}
{"id": "MONDO:0016103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HyperCKmia", "equivalent_identifiers": ["MONDO:0016103", "DOID:0111338", "orphanet:206599", "UMLS:C4724975", "UMLS:C4751434", "NCIT:C148327", "SNOMEDCT:773990006", "medgen:1668524"], "information_content": 100.0}
{"id": "MONDO:0043330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mirizzi syndrome", "equivalent_identifiers": ["MONDO:0043330", "orphanet:521219", "UMLS:C0267878", "MESH:D057792", "MEDDRA:10064809", "SNOMEDCT:4283007", "medgen:120605", "icd11.foundation:381742412"], "information_content": 100.0}
{"id": "HP:0030154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gallbladder perforation", "equivalent_identifiers": ["HP:0030154", "NCIT:C78309", "UMLS:C0156215", "MEDDRA:10017639", "MEDDRA:10034420", "SNOMEDCT:25345001"], "information_content": 100.0}
{"id": "HP:0012073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urinary acylglycine profile", "equivalent_identifiers": ["HP:0012073", "UMLS:C4023057"], "information_content": 87.2}
{"id": "MONDO:0018974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraneoplastic pemphigus", "equivalent_identifiers": ["MONDO:0018974", "DOID:0080852", "orphanet:63455", "EFO:0008602", "UMLS:C1112570", "MEDDRA:10057056", "medgen:798302", "icd11.foundation:104197957", "ICD10:L10.81"], "information_content": 100.0}
{"id": "orphanet:97685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "17q11 microdeletion syndrome", "equivalent_identifiers": ["orphanet:97685"]}
{"id": "MONDO:0008095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nevus anemicus", "equivalent_identifiers": ["MONDO:0008095", "OMIM:163050", "UMLS:C0265982", "MEDDRA:10069365", "MEDDRA:10069367", "NCIT:C3943", "SNOMEDCT:40929003", "medgen:82725", "HP:0025105"], "information_content": 100.0}
{"id": "HP:0007524", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical neurofibromatosis", "equivalent_identifiers": ["HP:0007524", "UMLS:C0220695", "MESH:C537392"], "information_content": 100.0}
{"id": "MONDO:0002911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain stem glioma", "equivalent_identifiers": ["MONDO:0002911", "DOID:4202", "EFO:1000142", "UMLS:C0677865", "MEDDRA:10006143", "MEDDRA:10087678", "NCIT:C8501", "SNOMEDCT:444545003", "medgen:195650", "HP:0010796"], "information_content": 76.2}
{"id": "MONDO:1040016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral artery stenosis", "equivalent_identifiers": ["MONDO:1040016", "UMLS:C1504438", "MEDDRA:10063648", "SNOMEDCT:838275008", "medgen:760198", "HP:0012492"], "information_content": 90.9}
{"id": "MONDO:0019338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcoidosis", "equivalent_identifiers": ["MONDO:0019338", "DOID:11335", "orphanet:797", "UMLS:C0036202", "MESH:D012507", "MEDDRA:10039485", "MEDDRA:10039486", "MEDDRA:10039490", "MEDDRA:10054039", "MEDDRA:10054078", "MEDDRA:10054079", "NCIT:C34995", "SNOMEDCT:31541009", "medgen:48554", "icd11.foundation:330792642", "ICD10:D86", "ICD9:135"], "information_content": 83.1}
{"id": "HP:0000433", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal mucosa morphology", "equivalent_identifiers": ["HP:0000433", "UMLS:C4025854"], "information_content": 78.0}
{"id": "MONDO:0018322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HSD10 disease, infantile type", "equivalent_identifiers": ["MONDO:0018322", "orphanet:391428", "UMLS:C5680025", "medgen:1843150"], "information_content": 100.0}
{"id": "MONDO:0007526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, spondylodysplastic type", "equivalent_identifiers": ["MONDO:0007526", "DOID:0050802", "orphanet:75496", "UMLS:C1869122", "MESH:C536201", "SNOMEDCT:720861000"], "information_content": 90.9}
{"id": "MONDO:0008541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatic cord torsion", "equivalent_identifiers": ["MONDO:0008541", "DOID:11996", "OMIM:187400", "UMLS:C0037856", "MESH:D013086", "MEDDRA:10043356", "MEDDRA:10043363", "MEDDRA:10044071", "MEDDRA:10044073", "MEDDRA:10076655", "NCIT:C26885", "SNOMEDCT:49198006", "SNOMEDCT:81996005", "medgen:52446", "ICD10:N44.02", "ICD9:608.2", "HP:0100813"], "information_content": 100.0}
{"id": "HP:0009107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ossification involving the femoral head and neck", "equivalent_identifiers": ["HP:0009107", "UMLS:C4024595"], "information_content": 87.2}
{"id": "MONDO:0010586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked Ehlers-Danlos syndrome", "equivalent_identifiers": ["MONDO:0010586", "orphanet:75497", "UMLS:C0268341", "MESH:C536197", "NCIT:C141423", "SNOMEDCT:67202007", "medgen:75671"], "information_content": 100.0}
{"id": "MONDO:0004132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal canal squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0004132", "DOID:7177", "orphanet:424019", "UMLS:C1332262", "NCIT:C7469", "medgen:233979", "icd11.foundation:585238371", "HP:0030438"], "information_content": 87.2}
{"id": "MONDO:0018474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "13q12.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018474", "orphanet:412035", "UMLS:C4750951", "SNOMEDCT:773547003", "medgen:1657124"], "information_content": 100.0}
{"id": "MONDO:0019144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary thrombophilia due to congenital protein S deficiency", "equivalent_identifiers": ["MONDO:0019144", "DOID:0111905", "orphanet:743", "UMLS:C2584611", "SNOMEDCT:439702007", "medgen:748876", "icd11.foundation:1305244529"], "information_content": 92.8}
{"id": "HP:6000007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Salivary basal cell adenoma", "equivalent_identifiers": ["HP:6000007", "UMLS:C5936905"], "information_content": 100.0}
{"id": "MONDO:0018321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical juvenile parkinsonism", "equivalent_identifiers": ["MONDO:0018321", "orphanet:391411", "UMLS:C4510873", "SNOMEDCT:725146001", "medgen:1380105"], "information_content": 95.4}
{"id": "HP:0008647", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pubertal developmental failure in females", "equivalent_identifiers": ["HP:0008647", "UMLS:C4024649"], "information_content": 100.0}
{"id": "HP:0000436", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal tip morphology", "equivalent_identifiers": ["HP:0000436", "UMLS:C4025852"], "information_content": 82.6}
{"id": "MONDO:0017943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoerythrocyte sensitization syndrome", "equivalent_identifiers": ["MONDO:0017943", "orphanet:324636", "UMLS:C0301928", "MESH:C535645", "MEDDRA:10078888", "MEDDRA:10087424", "MEDDRA:10087584", "MEDDRA:10087585", "MEDDRA:10087586", "MEDDRA:10087587", "SNOMEDCT:275446004", "medgen:90141"], "information_content": 100.0}
{"id": "MONDO:0005146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "post-traumatic stress disorder", "equivalent_identifiers": ["MONDO:0005146", "DOID:2055", "EFO:0001358", "UMLS:C0038436", "UMLS:C5539757", "MESH:D013313", "MEDDRA:10036316", "NCIT:C3389", "SNOMEDCT:47505003", "medgen:21345", "ICD10:F43.1", "ICD9:309.81", "HP:0033676"], "information_content": 100.0}
{"id": "MONDO:0019141", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porokeratosis of Mibelli", "equivalent_identifiers": ["MONDO:0019141", "orphanet:735", "UMLS:C0949506", "SNOMEDCT:80432009", "medgen:181842"], "information_content": 92.8}
{"id": "MONDO:0018320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary microcephaly-mild intellectual disability-young-onset diabetes syndrome", "equivalent_identifiers": ["MONDO:0018320", "orphanet:391408", "UMLS:C5190597", "SNOMEDCT:782755007", "medgen:1675765"], "information_content": 100.0}
{"id": "HP:0010344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of the 5th toe", "equivalent_identifiers": ["HP:0010344", "UMLS:C4021291"], "information_content": 90.9}
{"id": "MONDO:0019127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymyositis", "equivalent_identifiers": ["MONDO:0019127", "DOID:0080745", "orphanet:732", "EFO:0003063", "UMLS:C0085655", "MESH:D017285", "MEDDRA:10036102", "NCIT:C26925", "SNOMEDCT:31384009", "medgen:39086", "icd11.foundation:1157134196"], "information_content": 81.7}
{"id": "MONDO:0009889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive polycystic kidney disease", "equivalent_identifiers": ["MONDO:0009889", "DOID:0110861", "orphanet:731", "UMLS:C0085548", "MESH:D017044", "MEDDRA:10036047", "NCIT:C84579", "SNOMEDCT:28770003", "medgen:39076", "icd11.foundation:1424110943", "ICD10:Q61.1", "ICD9:753.14"], "information_content": 92.8}
{"id": "orphanet:733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial adenomatous polyposis", "equivalent_identifiers": ["orphanet:733"]}
{"id": "MONDO:0006424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "soft tissue neoplasm", "equivalent_identifiers": ["MONDO:0006424", "EFO:1000541", "UMLS:C0037579", "MESH:D012983", "MEDDRA:10068771", "NCIT:C3377", "SNOMEDCT:387837005", "medgen:11495", "HP:0031459"], "information_content": 52.1}
{"id": "orphanet:772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infantile Refsum disease", "equivalent_identifiers": ["orphanet:772"]}
{"id": "MONDO:0019180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hemorrhagic telangiectasia", "equivalent_identifiers": ["MONDO:0019180", "DOID:1270", "OMIM.PS:187300", "orphanet:774", "UMLS:C0039445", "MESH:D013683", "MEDDRA:10019883", "MEDDRA:10019887", "MEDDRA:10031132", "MEDDRA:10038554", "NCIT:C35064", "SNOMEDCT:21877004", "medgen:52657", "icd11.foundation:714406192", "ICD10:I78.0", "ICD9:448.0"], "information_content": 88.2}
{"id": "MONDO:0019173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rabies", "equivalent_identifiers": ["MONDO:0019173", "DOID:11260", "orphanet:770", "UMLS:C0034494", "MESH:D011818", "MEDDRA:10037742", "MEDDRA:10037743", "MEDDRA:10037744", "NCIT:C28182", "SNOMEDCT:14168008", "medgen:48308", "icd11.foundation:854762584", "ICD10:A82", "ICD9:071"], "information_content": 100.0}
{"id": "MONDO:0017941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chikungunya", "equivalent_identifiers": ["MONDO:0017941", "DOID:0050012", "orphanet:324625", "EFO:0008494", "UMLS:C0008055", "MESH:D065632", "MEDDRA:10067256", "NCIT:C128422", "SNOMEDCT:111864006", "medgen:3362", "icd11.foundation:900389391"], "information_content": 100.0}
{"id": "HP:0032063", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ankle joint effusion", "equivalent_identifiers": ["HP:0032063", "UMLS:C0343165", "MEDDRA:10002543", "MEDDRA:10014296", "SNOMEDCT:202383000"], "information_content": 100.0}
{"id": "MONDO:0002122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuritis", "equivalent_identifiers": ["MONDO:0002122", "DOID:1803", "UMLS:C0027813", "UMLS:C0270933", "MESH:D009443", "MEDDRA:10029240", "MEDDRA:10029246", "MEDDRA:10029248", "MEDDRA:10034593", "MEDDRA:10034599", "NCIT:C116381", "SNOMEDCT:128192007", "SNOMEDCT:21018002", "medgen:14344", "HP:0031002"], "information_content": 82.1}
{"id": "MONDO:0019017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short fifth metacarpals-insulin resistance syndrome", "equivalent_identifiers": ["MONDO:0019017", "orphanet:66518", "UMLS:C4303621", "SNOMEDCT:721069005", "medgen:929290"], "information_content": 100.0}
{"id": "HP:0012686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased pineal volume", "equivalent_identifiers": ["HP:0012686", "UMLS:C4022779"], "information_content": 100.0}
{"id": "MONDO:0019169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0019169", "DOID:3649", "OMIM.PS:312170", "orphanet:765", "EFO:0007459", "UMLS:C0034345", "MESH:D015325", "MEDDRA:10084109", "NCIT:C103968", "SNOMEDCT:46683007", "medgen:19610", "icd11.foundation:1124597954", "ICD10:E74.4"], "information_content": 86.3}
{"id": "HP:0100453", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteolytic defects of the middle phalanx of the 4th toe", "equivalent_identifiers": ["HP:0100453", "UMLS:C4022074"], "information_content": 100.0}
{"id": "MONDO:0011109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia, Lowry type", "equivalent_identifiers": ["MONDO:0011109", "OMIM:601560", "orphanet:166016", "UMLS:C1832112", "MESH:C563291", "SNOMEDCT:768935003", "medgen:321890"], "information_content": 100.0}
{"id": "MONDO:0019168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyomyositis", "equivalent_identifiers": ["MONDO:0019168", "DOID:876", "orphanet:764", "EFO:1001409", "UMLS:C0041188", "UMLS:C1704275", "MESH:D052880", "MEDDRA:10037652", "MEDDRA:10044695", "NCIT:C128382", "SNOMEDCT:65110003", "medgen:52862", "icd11.foundation:856598467", "ICD10:M60.0", "ICD9:040.81"], "information_content": 100.0}
{"id": "MONDO:0019170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyarteritis nodosa", "equivalent_identifiers": ["MONDO:0019170", "DOID:9810", "orphanet:767", "EFO:0009012", "UMLS:C0031036", "MESH:D010488", "MEDDRA:10009235", "MEDDRA:10023500", "MEDDRA:10033569", "MEDDRA:10034462", "MEDDRA:10036024", "MEDDRA:10036027", "NCIT:C26847", "SNOMEDCT:155441006", "medgen:14681", "icd11.foundation:1419332129", "ICD10:M30", "ICD10:M30.0", "ICD9:446.0"], "information_content": 88.2}
{"id": "MONDO:0019167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA vasculitis", "equivalent_identifiers": ["MONDO:0019167", "DOID:11123", "orphanet:761", "EFO:1000965", "UMLS:C0034152", "MESH:D011695", "MEDDRA:10001716", "MEDDRA:10001735", "MEDDRA:10002214", "MEDDRA:10002215", "MEDDRA:10002217", "MEDDRA:10019615", "MEDDRA:10019616", "MEDDRA:10019617", "MEDDRA:10037551", "MEDDRA:10037552", "MEDDRA:10037565", "MEDDRA:10039658", "MEDDRA:10082959", "NCIT:C34963", "SNOMEDCT:191306005", "SNOMEDCT:86074002", "medgen:48265", "icd11.foundation:1629105375", "ICD10:D69.0", "ICD9:287.0"], "information_content": 100.0}
{"id": "HP:0008598", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild conductive hearing impairment", "equivalent_identifiers": ["HP:0008598", "UMLS:C4021536"], "information_content": 100.0}
{"id": "MONDO:0018571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contractures-developmental delay-Pierre Robin syndrome", "equivalent_identifiers": ["MONDO:0018571", "orphanet:436003", "UMLS:C5680042", "SNOMEDCT:1216940001", "medgen:1805516"], "information_content": 100.0}
{"id": "HP:0002687", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of frontal sinus", "equivalent_identifiers": ["HP:0002687", "UMLS:C4025689"], "information_content": 88.2}
{"id": "MONDO:0019018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tako-tsubo cardiomyopathy", "equivalent_identifiers": ["MONDO:0019018", "orphanet:66529", "EFO:1002000", "UMLS:C1739395", "MESH:D054549", "MEDDRA:10066286", "MEDDRA:10066287", "MEDDRA:10067676", "MEDDRA:10067748", "MEDDRA:10067814", "NCIT:C85181", "SNOMEDCT:441541008", "medgen:366029", "icd11.foundation:478139552", "HP:0011665"], "information_content": 100.0}
{"id": "HP:0031483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced contraction of the left ventricular apex", "equivalent_identifiers": ["HP:0031483", "UMLS:C4531092"], "information_content": 100.0}
{"id": "HP:6001073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left ventricular apical dyskinesis", "equivalent_identifiers": ["HP:6001073", "UMLS:C5970395"], "information_content": 100.0}
{"id": "MONDO:0019162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism type 2", "equivalent_identifiers": ["MONDO:0019162", "OMIM.PS:145260", "orphanet:757", "UMLS:C1449844", "MEDDRA:10090551", "MEDDRA:10090553", "NCIT:C123252", "SNOMEDCT:15689008", "medgen:259599", "icd11.foundation:715347509"], "information_content": 88.2}
{"id": "MONDO:0016097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers", "equivalent_identifiers": ["MONDO:0016097", "orphanet:206546", "UMLS:C4707359", "SNOMEDCT:765197008", "medgen:1631985"], "information_content": 100.0}
{"id": "HP:0030097", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent muscle dystrophin expression", "equivalent_identifiers": ["HP:0030097", "UMLS:C4022647"], "information_content": 100.0}
{"id": "MONDO:0021023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complete androgen insensitivity syndrome", "equivalent_identifiers": ["MONDO:0021023", "DOID:0080775", "orphanet:99429", "UMLS:C0936016", "MEDDRA:10043319", "MEDDRA:10054657", "NCIT:C120191", "SNOMEDCT:368851000119102", "medgen:183188", "ICD10:E34.51"], "information_content": 100.0}
{"id": "HP:0012888", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal uterine cervix morphology", "equivalent_identifiers": ["HP:0012888", "UMLS:C4022694"], "information_content": 78.3}
{"id": "HP:0012872", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal vas deferens morphology", "equivalent_identifiers": ["HP:0012872", "UMLS:C4022697"], "information_content": 90.9}
{"id": "HP:0031092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spindle-shaped finger", "equivalent_identifiers": ["HP:0031092", "UMLS:C4230397"], "information_content": 100.0}
{"id": "HP:0012893", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck muscle hypertrophy", "equivalent_identifiers": ["HP:0012893", "UMLS:C4022690", "UMLS:C4280306"], "information_content": 100.0}
{"id": "MONDO:0016847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 1q", "equivalent_identifiers": ["MONDO:0016847", "orphanet:261344", "UMLS:C4708596", "SNOMEDCT:768927001", "medgen:1636619"], "information_content": 100.0}
{"id": "MONDO:0019667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda", "equivalent_identifiers": ["MONDO:0019667", "DOID:0112284", "orphanet:93284", "SNOMEDCT:51952004"], "information_content": 87.2}
{"id": "HP:0003855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spurred metaphyses of the upper limbs", "equivalent_identifiers": ["HP:0003855", "UMLS:C4025550"], "information_content": 95.4}
{"id": "HP:0010656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal epiphyseal ossification", "equivalent_identifiers": ["HP:0010656", "UMLS:C4021246"], "information_content": 72.0}
{"id": "HP:0003832", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the tibial plateaux", "equivalent_identifiers": ["HP:0003832", "UMLS:C4025564"], "information_content": 95.4}
{"id": "HP:0025263", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff knee", "equivalent_identifiers": ["HP:0025263", "UMLS:C0240129", "SNOMEDCT:249913002"], "information_content": 100.0}
{"id": "MONDO:0015205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated lissencephaly type 1 without known genetic defects", "equivalent_identifiers": ["MONDO:0015205", "orphanet:1084", "UMLS:C4275151", "SNOMEDCT:715406003", "medgen:895946", "icd11.foundation:80358651"], "information_content": 100.0}
{"id": "HP:0011201", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with changes in voltage", "equivalent_identifiers": ["HP:0011201", "UMLS:C4023473"], "information_content": 92.8}
{"id": "HP:0020219", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Motor seizure", "equivalent_identifiers": ["HP:0020219", "UMLS:C0751494", "MEDDRA:10010926"], "information_content": 69.7}
{"id": "MONDO:0018464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe phosphoribosylpyrophosphate synthetase superactivity", "equivalent_identifiers": ["MONDO:0018464", "orphanet:411543", "UMLS:C5680017", "medgen:1843045"], "information_content": 100.0}
{"id": "HP:0020074", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crystalluria", "equivalent_identifiers": ["HP:0020074", "UMLS:C0151579", "MEDDRA:10011509", "MEDDRA:10046536", "MEDDRA:10053114", "SNOMEDCT:46784006", "MESH:D000092162"], "information_content": 83.6}
{"id": "MONDO:0019354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome", "equivalent_identifiers": ["MONDO:0019354", "DOID:0080046", "OMIM.PS:108300", "orphanet:828", "UMLS:C0265253", "MEDDRA:10063402", "NCIT:C74984", "SNOMEDCT:78675000", "medgen:120521", "icd11.foundation:246271691"], "information_content": 87.2}
{"id": "HP:0031154", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beaded vitreous appearance", "equivalent_identifiers": ["HP:0031154", "UMLS:C4477007"], "information_content": 100.0}
{"id": "MONDO:0018360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal lupus erythematosus", "equivalent_identifiers": ["MONDO:0018360", "orphanet:398124", "EFO:0004537", "UMLS:C0409979", "MESH:C536397", "MEDDRA:10057887", "NCIT:C99236", "SNOMEDCT:95609003", "medgen:98372", "icd11.foundation:213855225"], "information_content": 100.0}
{"id": "MONDO:0019353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stargardt disease", "equivalent_identifiers": ["MONDO:0019353", "DOID:0050817", "orphanet:827", "UMLS:C0271093", "MESH:D000080362", "MEDDRA:10062766", "NCIT:C85078", "SNOMEDCT:47673003", "SNOMEDCT:70099003", "medgen:75734", "icd11.foundation:1690038580"], "information_content": 90.9}
{"id": "MONDO:0019355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset Still disease", "equivalent_identifiers": ["MONDO:0019355", "DOID:14256", "orphanet:829", "EFO:0007135", "UMLS:C0085253", "MESH:D016706", "MEDDRA:10064056", "MEDDRA:10079455", "MEDDRA:10079456", "NCIT:C197832", "SNOMEDCT:239920006", "SNOMEDCT:68190001", "medgen:39007", "icd11.foundation:549009522", "ICD10:M06.1"], "information_content": 100.0}
{"id": "HP:6000933", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Koebner Phenomenon", "equivalent_identifiers": ["HP:6000933", "UMLS:C0263367", "MEDDRA:10048649", "SNOMEDCT:89321004"], "information_content": 100.0}
{"id": "HP:0011714", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Libman-Sacks lesions", "equivalent_identifiers": ["HP:0011714", "UMLS:C4023221"], "information_content": 100.0}
{"id": "MONDO:0002303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central retinal vein occlusion", "equivalent_identifiers": ["MONDO:0002303", "DOID:2450", "orphanet:411527", "UMLS:C0154841", "MEDDRA:10007972", "NCIT:C118859", "SNOMEDCT:68478007", "medgen:509679", "icd11.foundation:1146548497", "ICD10:H34.81", "ICD9:362.35", "HP:0020166"], "information_content": 95.4}
{"id": "MONDO:0003417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "internuclear ophthalmoplegia", "equivalent_identifiers": ["MONDO:0003417", "DOID:538", "UMLS:C0152134", "MEDDRA:10022597", "SNOMEDCT:49823009", "medgen:101820", "icd11.foundation:377040542", "ICD10:H51.2", "ICD9:378.86", "HP:0030773"], "information_content": 100.0}
{"id": "HP:0033126", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin Necrosis", "equivalent_identifiers": ["HP:0033126", "NCIT:C112114", "UMLS:C0151799", "MEDDRA:10028879", "MEDDRA:10040893", "SNOMEDCT:95347000"], "information_content": 100.0}
{"id": "HP:5200330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Suicide behaviors", "equivalent_identifiers": ["HP:5200330"], "information_content": 100.0}
{"id": "HP:6000139", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splinter hemorrhages", "equivalent_identifiers": ["HP:6000139", "UMLS:C0333286", "MEDDRA:10041663", "MEDDRA:10041664", "MEDDRA:10071889", "SNOMEDCT:91608003"], "information_content": 100.0}
{"id": "MONDO:0018636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome", "equivalent_identifiers": ["MONDO:0018636", "orphanet:444463"], "information_content": 100.0}
{"id": "HP:0011493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Central opacification of the cornea", "equivalent_identifiers": ["HP:0011493", "UMLS:C4023327"], "information_content": 88.2}
{"id": "HP:0011495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal corneal epithelium morphology", "equivalent_identifiers": ["HP:0011495", "UMLS:C4023326"], "information_content": 79.6}
{"id": "MONDO:0019350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis", "equivalent_identifiers": ["MONDO:0019350", "DOID:12971", "orphanet:822", "UMLS:C0037889", "MESH:D013103", "MEDDRA:10002079", "MEDDRA:10019904", "MEDDRA:10041509", "MEDDRA:10054633", "MEDDRA:10055201", "MEDDRA:10080224", "NCIT:C97074", "SNOMEDCT:55995005", "medgen:52450", "icd11.foundation:1305248013", "ICD10:D58.0", "ICD9:282.0"], "information_content": 87.2}
{"id": "MONDO:0016846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 22q11.2 microduplication syndrome", "equivalent_identifiers": ["MONDO:0016846", "orphanet:261337", "UMLS:C4706942", "SNOMEDCT:764524005", "medgen:1637660"], "information_content": 100.0}
{"id": "MONDO:0015201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankyloblepharon filiforme-imperforate anus syndrome", "equivalent_identifiers": ["MONDO:0015201", "orphanet:1074", "UMLS:C4751231", "SNOMEDCT:773770009", "medgen:1666000"], "information_content": 100.0}
{"id": "MONDO:0021420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyp of vocal cord", "equivalent_identifiers": ["MONDO:0021420", "EFO:0009478", "UMLS:C0042929", "MEDDRA:10036130", "MEDDRA:10047675", "NCIT:C3440", "SNOMEDCT:9078005", "medgen:21887", "icd11.foundation:1351291002", "HP:0032041"], "information_content": 100.0}
{"id": "HP:5200360", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short REM sleep", "equivalent_identifiers": ["HP:5200360", "UMLS:C5873015"], "information_content": 100.0}
{"id": "HP:0034819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris nodule", "equivalent_identifiers": ["HP:0034819", "UMLS:C0424839", "SNOMEDCT:248510004"], "information_content": 90.9}
{"id": "MONDO:0018463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mild phosphoribosylpyrophosphate synthetase superactivity", "equivalent_identifiers": ["MONDO:0018463", "orphanet:411536", "UMLS:C5680016", "medgen:1843112"], "information_content": 100.0}
{"id": "MONDO:0008394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silver-Russell syndrome", "equivalent_identifiers": ["MONDO:0008394", "DOID:14681", "OMIM.PS:180860", "orphanet:813", "UMLS:C0175693", "MESH:D056730", "MEDDRA:10062282", "NCIT:C85068", "SNOMEDCT:15069006", "medgen:104492", "icd11.foundation:735297495"], "information_content": 83.6}
{"id": "MONDO:0019346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sialidosis type 1", "equivalent_identifiers": ["MONDO:0019346", "orphanet:812", "UMLS:C0023806", "SNOMEDCT:34960006", "SNOMEDCT:723675006", "medgen:44174", "icd11.foundation:1154773192"], "information_content": 100.0}
{"id": "MONDO:0011788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cloverleaf skull-multiple congenital anomalies syndrome", "equivalent_identifiers": ["MONDO:0011788", "OMIM:607161", "orphanet:93267", "UMLS:C1846671", "MESH:C564611", "SNOMEDCT:717771007", "medgen:375942"], "information_content": 100.0}
{"id": "MONDO:0009833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shwachman-Diamond syndrome", "equivalent_identifiers": ["MONDO:0009833", "DOID:0060479", "OMIM.PS:260400", "orphanet:811", "UMLS:C0272170", "MESH:C537330", "MESH:D000081003", "MEDDRA:10067940", "NCIT:C61235", "SNOMEDCT:89454001", "medgen:124418", "icd11.foundation:232885463", "ICD10:D61.0"], "information_content": 89.4}
{"id": "HP:0410289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoamylasemia", "equivalent_identifiers": ["HP:0410289", "UMLS:C5139453", "MEDDRA:10091013", "MEDDRA:10091014"], "information_content": 100.0}
{"id": "MONDO:0019345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "shigellosis", "equivalent_identifiers": ["MONDO:0019345", "DOID:12385", "orphanet:810", "EFO:0005585", "UMLS:C0013371", "UMLS:C0302358", "UMLS:C0302359", "UMLS:C0302360", "UMLS:C1527298", "MESH:D004405", "MEDDRA:10003972", "MEDDRA:10017915", "MEDDRA:10040549", "MEDDRA:10040550", "MEDDRA:10040553", "MEDDRA:10040554", "MEDDRA:10054178", "NCIT:C157978", "SNOMEDCT:111817006", "SNOMEDCT:274081004", "SNOMEDCT:34335000", "SNOMEDCT:36188001", "SNOMEDCT:55760004", "SNOMEDCT:66301008", "medgen:8513", "icd11.foundation:2080365623", "ICD10:A03", "ICD10:A03.0", "ICD10:A03.1", "ICD10:A03.2", "ICD9:004", "ICD9:004.0", "ICD9:004.1", "ICD9:004.2", "KEGG.DISEASE:05131"], "information_content": 100.0}
{"id": "MONDO:0034189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome", "equivalent_identifiers": ["MONDO:0034189", "orphanet:562639", "UMLS:C5680117", "SNOMEDCT:1230291009", "medgen:1812237"], "information_content": 100.0}
{"id": "HP:0033562", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-glycoprotein-210 antibody positivity", "equivalent_identifiers": ["HP:0033562", "UMLS:C5539687"], "information_content": 100.0}
{"id": "HP:0034107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-p53 antibody positivity", "equivalent_identifiers": ["HP:0034107", "UMLS:C5676703"], "information_content": 100.0}
{"id": "HP:0034108", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Y-box protein-1 antibody positivity", "equivalent_identifiers": ["HP:0034108", "UMLS:C5676704"], "information_content": 100.0}
{"id": "HP:0034110", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Gerbich phenotype 1 antibody positivity", "equivalent_identifiers": ["HP:0034110", "UMLS:C5676706"], "information_content": 100.0}
{"id": "HP:0034111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-MIT3 antibody positivity", "equivalent_identifiers": ["HP:0034111", "UMLS:C5676707"], "information_content": 100.0}
{"id": "HP:0034114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-hexokinase-1 antibody positivity", "equivalent_identifiers": ["HP:0034114", "UMLS:C5676710"], "information_content": 100.0}
{"id": "HP:0034115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Kelch like protein 12 antibody positivity", "equivalent_identifiers": ["HP:0034115", "UMLS:C5676711"], "information_content": 100.0}
{"id": "HP:0034155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-sp100 antibody positivity", "equivalent_identifiers": ["HP:0034155", "UMLS:C5676751"], "information_content": 100.0}
{"id": "HP:0025344", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Interlobular bile duct destruction", "equivalent_identifiers": ["HP:0025344", "UMLS:C4476714"], "information_content": 100.0}
{"id": "HP:0030988", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Granulomatous cholangitis", "equivalent_identifiers": ["HP:0030988", "UMLS:C4476897"], "information_content": 100.0}
{"id": "MONDO:0019661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pfeiffer syndrome type 3", "equivalent_identifiers": ["MONDO:0019661", "orphanet:93260", "UMLS:C5438850", "SNOMEDCT:1003918009", "medgen:1748161", "icd11.foundation:1910513449"], "information_content": 100.0}
{"id": "MONDO:0016845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "21q22.11q22.12 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016845", "orphanet:261323", "UMLS:C5192593", "SNOMEDCT:787171006", "medgen:1681958"], "information_content": 100.0}
{"id": "HP:0009226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short proximal phalanx of the 5th finger", "equivalent_identifiers": ["HP:0009226", "UMLS:C4021509"], "information_content": 100.0}
{"id": "HP:0009597", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short proximal phalanx of the 2nd finger", "equivalent_identifiers": ["HP:0009597", "UMLS:C4021430"], "information_content": 100.0}
{"id": "HP:0010990", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the common coagulation pathway", "equivalent_identifiers": ["HP:0010990", "UMLS:C4023609"], "information_content": 77.8}
{"id": "HP:0031490", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemangioma of the lip", "equivalent_identifiers": ["HP:0031490", "UMLS:C4531086"], "information_content": 100.0}
{"id": "MONDO:0015199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia - intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0015199", "orphanet:1068", "UMLS:C2931243", "MESH:C536568", "SNOMEDCT:720468000", "medgen:419752"], "information_content": 100.0}
{"id": "HP:0030670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hamartoma of the orbital region", "equivalent_identifiers": ["HP:0030670", "UMLS:C4073121"], "information_content": 84.8}
{"id": "HP:0031111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous hamartoma", "equivalent_identifiers": ["HP:0031111", "UMLS:C1302724", "SNOMEDCT:399921006"], "information_content": 100.0}
{"id": "MONDO:0015198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia-ptosis-intellectual disability-familial obesity syndrome", "equivalent_identifiers": ["MONDO:0015198", "orphanet:1067", "UMLS:C4303736", "SNOMEDCT:720987001", "medgen:929405"], "information_content": 100.0}
{"id": "MONDO:0017264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic recessive X-linked ichthyosis", "equivalent_identifiers": ["MONDO:0017264", "orphanet:281090", "UMLS:C4274085", "SNOMEDCT:717041008", "medgen:904038"], "information_content": 100.0}
{"id": "HP:0005507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemoglobin Barts", "equivalent_identifiers": ["HP:0005507", "NCIT:C103920", "UMLS:C3539063", "UMLS:C5886876"], "information_content": 100.0}
{"id": "MONDO:0019402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta thalassemia", "equivalent_identifiers": ["MONDO:0019402", "DOID:12241", "orphanet:848", "UMLS:C0005283", "MESH:D017086", "MEDDRA:10004505", "MEDDRA:10004514", "MEDDRA:10043391", "MEDDRA:10054660", "NCIT:C34375", "SNOMEDCT:65959000", "medgen:2611", "icd11.foundation:2063292324", "ICD10:D56.1", "ICD9:282.44"], "information_content": 87.2}
{"id": "HP:0011328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fontanelle morphology", "equivalent_identifiers": ["HP:0011328", "UMLS:C4020755"], "information_content": 78.0}
{"id": "MONDO:0019659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pfeiffer syndrome type 1", "equivalent_identifiers": ["MONDO:0019659", "orphanet:93258", "UMLS:C5438812", "SNOMEDCT:1003877009", "medgen:1726699", "icd11.foundation:490354109"], "information_content": 100.0}
{"id": "MONDO:0019660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pfeiffer syndrome type 2", "equivalent_identifiers": ["MONDO:0019660", "orphanet:93259", "UMLS:C5438849", "SNOMEDCT:1003916008", "medgen:1761826", "icd11.foundation:531949642"], "information_content": 100.0}
{"id": "HP:0009603", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of the thumb", "equivalent_identifiers": ["HP:0009603", "UMLS:C3552414"], "information_content": 88.2}
{"id": "MONDO:0016844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 20p", "equivalent_identifiers": ["MONDO:0016844", "orphanet:261318", "UMLS:C0265480", "UMLS:C2930888", "MESH:C535371", "SNOMEDCT:111311004", "medgen:418939"], "information_content": 100.0}
{"id": "MONDO:0019392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syringocystadenoma papilliferum", "equivalent_identifiers": ["MONDO:0019392", "DOID:5445", "orphanet:840", "EFO:1000558", "UMLS:C0406803", "MEDDRA:10042926", "NCIT:C4172", "SNOMEDCT:239121009", "SNOMEDCT:8934006", "medgen:98362", "icd11.foundation:530424877"], "information_content": 95.4}
{"id": "MONDO:0016843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "20q13.33 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016843", "orphanet:261311", "UMLS:C4518823", "SNOMEDCT:733520002", "medgen:1384661"], "information_content": 100.0}
{"id": "HP:0012858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased scrotal rugation", "equivalent_identifiers": ["HP:0012858", "UMLS:C4022705"], "information_content": 100.0}
{"id": "MONDO:0015863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyembryoma", "equivalent_identifiers": ["MONDO:0015863", "orphanet:180229", "UMLS:C0334518", "NCIT:C66776", "SNOMEDCT:1156404008", "SNOMEDCT:28325008", "medgen:83160"], "information_content": 87.2}
{"id": "orphanet:1052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mosaic variegated aneuploidy syndrome", "equivalent_identifiers": ["orphanet:1052"]}
{"id": "MONDO:0021050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginal neoplasm", "equivalent_identifiers": ["MONDO:0021050", "EFO:1001447", "UMLS:C0042258", "UMLS:C0750081", "MEDDRA:10049574", "MEDDRA:10062165", "NCIT:C3437", "SNOMEDCT:126921000", "medgen:22608", "HP:0100650"], "information_content": 69.0}
{"id": "MONDO:0016532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lennox-Gastaut syndrome", "equivalent_identifiers": ["MONDO:0016532", "DOID:0050561", "OMIM:606369", "orphanet:2382", "UMLS:C0238111", "UMLS:C3807541", "MESH:D065768", "MEDDRA:10048816", "NCIT:C84816", "SNOMEDCT:230418006", "medgen:116044", "icd11.foundation:651135242"], "information_content": 90.9}
{"id": "orphanet:1059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blue rubber bleb nevus", "equivalent_identifiers": ["orphanet:1059"]}
{"id": "HP:0012479", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temporomandibular joint crepitus", "equivalent_identifiers": ["HP:0012479", "UMLS:C0575154", "UMLS:C4280313", "UMLS:C4280314", "UMLS:C4280315", "SNOMEDCT:298377005"], "information_content": 100.0}
{"id": "HP:0030220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Socially inappropriate behavior", "equivalent_identifiers": ["HP:0030220", "UMLS:C2220010"], "information_content": 100.0}
{"id": "MONDO:0016557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukonychia totalis", "equivalent_identifiers": ["MONDO:0016557", "orphanet:2387", "UMLS:C4551625", "MESH:C535889", "SNOMEDCT:763792009", "medgen:1641555"], "information_content": 100.0}
{"id": "orphanet:1055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital left ventricular aneurysm", "equivalent_identifiers": ["orphanet:1055"]}
{"id": "MONDO:0016545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukoencephalopathy-palmoplantar keratoderma syndrome", "equivalent_identifiers": ["MONDO:0016545", "orphanet:2386", "UMLS:C4749769", "SNOMEDCT:771184001", "medgen:1652044"], "information_content": 100.0}
{"id": "MONDO:0019390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Susac syndrome", "equivalent_identifiers": ["MONDO:0019390", "orphanet:838", "EFO:1001856", "UMLS:C2717757", "MESH:D055955", "MEDDRA:10071573", "MEDDRA:10071586", "NCIT:C116363", "SNOMEDCT:702575003", "medgen:439270", "icd11.foundation:1292480458"], "information_content": 100.0}
{"id": "HP:0005220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple intestinal neurofibromatosis", "equivalent_identifiers": ["HP:0005220", "UMLS:C4025233"], "information_content": 100.0}
{"id": "HP:0008775", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal prostate morphology", "equivalent_identifiers": ["HP:0008775", "UMLS:C0747987"], "information_content": 73.3}
{"id": "MONDO:0019366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "free sialic acid storage disease", "equivalent_identifiers": ["MONDO:0019366", "orphanet:834", "UMLS:C0349711", "UMLS:C2931872", "MESH:C538523", "SNOMEDCT:278991002", "medgen:419512", "icd11.foundation:1817428569"], "information_content": 89.4}
{"id": "MONDO:0020352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple system atrophy, parkinsonian type", "equivalent_identifiers": ["MONDO:0020352", "orphanet:98933", "UMLS:C5554235", "MEDDRA:10086132", "medgen:1842393", "icd11.foundation:296753000"], "information_content": 100.0}
{"id": "MONDO:0019358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy due to sulfite oxidase deficiency", "equivalent_identifiers": ["MONDO:0019358", "orphanet:833", "UMLS:C4275019", "SNOMEDCT:715980003", "medgen:894927", "icd11.foundation:681037681"], "information_content": 88.2}
{"id": "MONDO:0016842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal 20q13.2q13.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016842", "orphanet:261304", "UMLS:C4510306", "SNOMEDCT:724070005", "medgen:1390091"], "information_content": 100.0}
{"id": "HP:0005853", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital foot contraction deformities", "equivalent_identifiers": ["HP:0005853", "UMLS:C4025123"], "information_content": 100.0}
{"id": "MONDO:0019805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "twin to twin transfusion syndrome", "equivalent_identifiers": ["MONDO:0019805", "DOID:13576", "orphanet:95431", "EFO:1001221", "UMLS:C2909036", "MESH:D005330", "MEDDRA:10058328", "NCIT:C113824", "SNOMEDCT:13404009", "medgen:777055", "icd11.foundation:850604370", "ICD10:O43.02", "HP:0031110"], "information_content": 95.4}
{"id": "MONDO:0015177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal anadysplasia", "equivalent_identifiers": ["MONDO:0015177", "orphanet:1040", "UMLS:C0432226", "MESH:C537351", "SNOMEDCT:254085009", "medgen:96582", "icd11.foundation:327336919"], "information_content": 95.4}
{"id": "MONDO:0015587", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rolandic epilepsy-speech dyspraxia syndrome", "equivalent_identifiers": ["MONDO:0015587", "orphanet:163721", "UMLS:C4707308", "SNOMEDCT:765093009", "medgen:1633042", "icd11.foundation:288052868"], "information_content": 95.4}
{"id": "MONDO:0010891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal hemolytic anemia-genital anomalies syndrome", "equivalent_identifiers": ["MONDO:0010891", "OMIM:600461", "orphanet:1046", "UMLS:C1838120", "MESH:C563935", "medgen:333019"], "information_content": 100.0}
{"id": "MONDO:0010639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal abductor paralysis-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010639", "OMIM:308850", "orphanet:2375", "UMLS:C4319572", "UMLS:C5886766", "SNOMEDCT:724178000", "medgen:1855824"], "information_content": 100.0}
{"id": "MONDO:0017892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive myogenic arthrogryposis multiplex congenita", "equivalent_identifiers": ["MONDO:0017892", "orphanet:319332", "UMLS:C4707155", "SNOMEDCT:764812008", "medgen:1647450"], "information_content": 100.0}
{"id": "MONDO:0017859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colchicine poisoning", "equivalent_identifiers": ["MONDO:0017859", "orphanet:31824", "UMLS:C0274779", "SNOMEDCT:24354007", "icd11.foundation:1617857912"], "information_content": 100.0}
{"id": "HP:0034799", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Splenic hemophagocytosis", "equivalent_identifiers": ["HP:0034799", "UMLS:C5826671"], "information_content": 100.0}
{"id": "HP:0011295", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with parietal sharp waves", "equivalent_identifiers": ["HP:0011295", "UMLS:C2206520"], "information_content": 100.0}
{"id": "HP:0012012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with parietal focal spike waves", "equivalent_identifiers": ["HP:0012012", "UMLS:C4023079"], "information_content": 100.0}
{"id": "MONDO:0017860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methanol poisoning", "equivalent_identifiers": ["MONDO:0017860", "orphanet:31825"], "information_content": 100.0}
{"id": "HP:0031422", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cerebellar cortex morphology", "equivalent_identifiers": ["HP:0031422", "UMLS:C4531132"], "information_content": 95.4}
{"id": "MONDO:0017861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ethylene glycol poisoning", "equivalent_identifiers": ["MONDO:0017861", "orphanet:31826", "UMLS:C0413194", "SNOMEDCT:426692001"], "information_content": 100.0}
{"id": "MONDO:0016086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteochondritis of tarsal/metatarsal bone", "equivalent_identifiers": ["MONDO:0016086", "DOID:11760", "orphanet:563991", "UMLS:C0158444", "MEDDRA:10023260", "MEDDRA:10031236", "SNOMEDCT:203392007", "medgen:510539", "ICD9:732.5"], "information_content": 100.0}
{"id": "HP:0008369", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tarsal ossification", "equivalent_identifiers": ["HP:0008369", "UMLS:C4021544"], "information_content": 87.2}
{"id": "HP:0100323", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile aseptic necrosis", "equivalent_identifiers": ["HP:0100323", "UMLS:C4020710", "UMLS:C4022146"], "information_content": 85.5}
{"id": "MONDO:0016528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limb body wall complex", "equivalent_identifiers": ["MONDO:0016528", "orphanet:2369", "UMLS:C4274839", "MEDDRA:10090905", "MEDDRA:10090907", "SNOMEDCT:716106000", "medgen:906212", "icd11.foundation:353005375"], "information_content": 100.0}
{"id": "HP:0011418", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vasa Previa", "equivalent_identifiers": ["HP:0011418", "NCIT:C87127", "UMLS:C0269852", "UMLS:C5551365", "MEDDRA:10047036", "MEDDRA:10074142", "SNOMEDCT:79668009", "MESH:D055949"], "information_content": 89.4}
{"id": "HP:0006711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia involving bones of the thorax", "equivalent_identifiers": ["HP:0006711", "UMLS:C4024992"], "information_content": 77.1}
{"id": "HP:0004275", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of hand bones", "equivalent_identifiers": ["HP:0004275", "UMLS:C3276746"], "information_content": 70.5}
{"id": "HP:0010242", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the proximal phalanges of the hand", "equivalent_identifiers": ["HP:0010242", "UMLS:C4021302"], "information_content": 87.2}
{"id": "HP:0100656", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracoabdominal wall defect", "equivalent_identifiers": ["HP:0100656", "UMLS:C4022002"], "information_content": 95.4}
{"id": "HP:0034207", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal fetal gastrointestinal system morphology", "equivalent_identifiers": ["HP:0034207", "UMLS:C5676794"], "information_content": 83.1}
{"id": "MONDO:0016527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to lactate dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0016527", "orphanet:2364", "UMLS:C0342769", "UMLS:C5575057", "MESH:C580233", "SNOMEDCT:1186809004", "SNOMEDCT:124115002", "medgen:1805539", "icd11.foundation:1092207912"], "information_content": 95.4}
{"id": "MONDO:0007872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LADD syndrome", "equivalent_identifiers": ["MONDO:0007872", "DOID:0050331", "DOID:0081370", "OMIM.PS:149730", "orphanet:2363", "UMLS:C0265269", "MESH:C538132", "MEDDRA:10085252", "MEDDRA:10085253", "SNOMEDCT:23817003", "medgen:78545"], "information_content": 90.9}
{"id": "HP:0011482", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lacrimal gland morphology", "equivalent_identifiers": ["HP:0011482", "UMLS:C4023336"], "information_content": 83.6}
{"id": "HP:0000919", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the costochondral junction", "equivalent_identifiers": ["HP:0000919", "UMLS:C4021791"], "information_content": 83.6}
{"id": "MONDO:0017283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion", "equivalent_identifiers": ["MONDO:0017283", "orphanet:284169", "UMLS:C5190804", "SNOMEDCT:783061008", "medgen:1681325"], "information_content": 100.0}
{"id": "MONDO:0005854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed connective tissue disease", "equivalent_identifiers": ["MONDO:0005854", "DOID:3492", "orphanet:809", "EFO:0007374", "UMLS:C0026272", "MESH:D008947", "MEDDRA:10026975", "MEDDRA:10027754", "MEDDRA:10049231", "NCIT:C84892", "SNOMEDCT:398021003", "SNOMEDCT:398049005", "medgen:10069", "icd11.foundation:891652224", "ICD10:M35.1"], "information_content": 100.0}
{"id": "HP:0034092", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-cyclic citrullinated peptide antibody positivity", "equivalent_identifiers": ["HP:0034092", "UMLS:C5676688"], "information_content": 100.0}
{"id": "HP:0010303", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal spinal meningeal morphology", "equivalent_identifiers": ["HP:0010303", "UMLS:C4023914"], "information_content": 87.2}
{"id": "MONDO:0024333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sciatica", "equivalent_identifiers": ["MONDO:0024333", "UMLS:C0036396", "MESH:D012585", "MEDDRA:10039673", "MEDDRA:10039674", "MEDDRA:10050221", "MEDDRA:10056572", "SNOMEDCT:23056005", "medgen:19893", "icd11.foundation:2056651014", "HP:0011868"], "information_content": 95.4}
{"id": "MONDO:0015584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile infection-related epilepsy syndrome", "equivalent_identifiers": ["MONDO:0015584", "orphanet:163703", "UMLS:C4049262", "MEDDRA:10076948", "MEDDRA:10079438", "SNOMEDCT:725413002", "medgen:1381987", "icd11.foundation:1316435973"], "information_content": 100.0}
{"id": "orphanet:805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tuberous sclerosis complex", "equivalent_identifiers": ["orphanet:805"]}
{"id": "HP:0012778", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal astrocytic hamartoma", "equivalent_identifiers": ["HP:0012778", "NCIT:C174539", "UMLS:C0339554", "UMLS:C4022725", "SNOMEDCT:255026000", "SNOMEDCT:416351002"], "information_content": 90.9}
{"id": "MONDO:0018988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iridocorneal endothelial syndrome", "equivalent_identifiers": ["MONDO:0018988", "orphanet:64734", "UMLS:C1096100", "MESH:D057129", "MEDDRA:10053678", "NCIT:C84792", "SNOMEDCT:129623003", "medgen:242751", "icd11.foundation:265074385"], "information_content": 90.9}
{"id": "HP:0011489", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal migration of corneal endothelium", "equivalent_identifiers": ["HP:0011489", "UMLS:C4023331"], "information_content": 95.4}
{"id": "MONDO:0019342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome", "equivalent_identifiers": ["MONDO:0019342", "DOID:0050569", "OMIM.PS:210600", "orphanet:808", "UMLS:C0265202", "MEDDRA:10090776", "NCIT:C125488", "SNOMEDCT:57917004", "medgen:78534", "icd11.foundation:952199295", "ICD10:Q87.1"], "information_content": 83.1}
{"id": "MONDO:0008766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amaurosis-hypertrichosis syndrome", "equivalent_identifiers": ["MONDO:0008766", "OMIM:204110", "orphanet:1021", "UMLS:C1857588", "UMLS:C4303739", "MESH:C536604", "SNOMEDCT:720983002", "medgen:341805"], "information_content": 100.0}
{"id": "MONDO:0015140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset autosomal dominant Alzheimer disease", "equivalent_identifiers": ["MONDO:0015140", "orphanet:1020"], "information_content": 81.7}
{"id": "MONDO:0009717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schwartz-Jampel syndrome", "equivalent_identifiers": ["MONDO:0009717", "orphanet:800", "UMLS:C0036391", "MEDDRA:10082378", "MEDDRA:10082710", "NCIT:C35008", "SNOMEDCT:29145002", "medgen:19892", "icd11.foundation:1725668060"], "information_content": 90.9}
{"id": "HP:0100795", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormally straight spine", "equivalent_identifiers": ["HP:0100795", "UMLS:C4021969"], "information_content": 100.0}
{"id": "MONDO:0007095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ameloonychohypohidrotic syndrome", "equivalent_identifiers": ["MONDO:0007095", "OMIM:104570", "orphanet:1028", "UMLS:C1863006", "MESH:C538245", "SNOMEDCT:715404000", "medgen:400184"], "information_content": 100.0}
{"id": "MONDO:0018637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial chylomicronemia syndrome", "equivalent_identifiers": ["MONDO:0018637", "DOID:0111417", "orphanet:444490", "UMLS:C5442313", "MEDDRA:10085051", "MEDDRA:10085052", "SNOMEDCT:1197489003", "medgen:1778100"], "information_content": 88.2}
{"id": "MONDO:0018465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirata disease", "equivalent_identifiers": ["MONDO:0018465", "DOID:0040100", "orphanet:411593", "UMLS:C0854359", "MEDDRA:10022472", "SNOMEDCT:408539000", "medgen:678528"], "information_content": 100.0}
{"id": "MONDO:0009498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal Kniest-like dysplasia", "equivalent_identifiers": ["MONDO:0009498", "OMIM:245190", "orphanet:2347", "UMLS:C1855605", "MESH:C537208", "medgen:383721"], "information_content": 100.0}
{"id": "HP:0003174", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ischium morphology", "equivalent_identifiers": ["HP:0003174", "UMLS:C0685661", "UMLS:C5779668", "SNOMEDCT:93008005"], "information_content": 84.2}
{"id": "MONDO:0011019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0011019", "OMIM:601217", "orphanet:1014", "UMLS:C1832593", "UMLS:C4303740", "MESH:C563370", "SNOMEDCT:720981000", "medgen:321990"], "information_content": 100.0}
{"id": "HP:0034980", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synkinesis", "equivalent_identifiers": ["HP:0034980", "UMLS:C0234362", "MEDDRA:10078747", "SNOMEDCT:54685005", "MESH:D046608"], "information_content": 92.8}
{"id": "MONDO:0018991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatoportal sclerosis", "equivalent_identifiers": ["MONDO:0018991", "orphanet:64743", "UMLS:C4273756", "UMLS:C4476911", "SNOMEDCT:718096004", "medgen:1391122"], "information_content": 100.0}
{"id": "MONDO:0037251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congestive splenomegaly", "equivalent_identifiers": ["MONDO:0037251", "UMLS:C0154307", "UMLS:C0400885", "MESH:C537903", "MESH:D000094724", "MEDDRA:10072317", "MEDDRA:10072318", "MEDDRA:10077260", "SNOMEDCT:19058002", "SNOMEDCT:197316009", "SNOMEDCT:722867009", "medgen:56339", "HP:0031015"], "information_content": 95.4}
{"id": "MONDO:0018992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related thyroid disease", "equivalent_identifiers": ["MONDO:0018992", "DOID:14351", "orphanet:64744", "UMLS:C0154162", "MEDDRA:10039142", "MEDDRA:10053985", "MEDDRA:10053986", "NCIT:C35827", "SNOMEDCT:89024000", "medgen:509536", "icd11.foundation:1357889668", "ICD10:E06.5"], "information_content": 100.0}
{"id": "HP:0030898", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pruritis on abdomen", "equivalent_identifiers": ["HP:0030898", "UMLS:C4293681"], "information_content": 100.0}
{"id": "HP:0030899", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pruritis on hand", "equivalent_identifiers": ["HP:0030899", "UMLS:C4293680"], "information_content": 95.4}
{"id": "HP:0030901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pruritis on breast", "equivalent_identifiers": ["HP:0030901", "UMLS:C4293679"], "information_content": 100.0}
{"id": "MONDO:0017183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism due to UCP2 deficiency", "equivalent_identifiers": ["MONDO:0017183", "orphanet:276556", "UMLS:C4303082", "SNOMEDCT:721834007", "medgen:928751"], "information_content": 100.0}
{"id": "HP:0031057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin fissure", "equivalent_identifiers": ["HP:0031057", "NCIT:C111987", "UMLS:C0221245", "MEDDRA:10016716", "MEDDRA:10039031", "MEDDRA:10040848", "MEDDRA:10040849", "MEDDRA:10086344", "SNOMEDCT:31478005", "SNOMEDCT:95321009"], "information_content": 100.0}
{"id": "MONDO:0000136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis follicularis spinulosa decalvans", "equivalent_identifiers": ["MONDO:0000136", "DOID:0080753", "orphanet:2340", "UMLS:C0343057", "SNOMEDCT:238626006", "medgen:83355", "icd11.foundation:303213910"], "information_content": 92.8}
{"id": "HP:0025751", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced anterior scleral thickness", "equivalent_identifiers": ["HP:0025751", "UMLS:C5970229"], "information_content": 100.0}
{"id": "MONDO:0020367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile open angle glaucoma", "equivalent_identifiers": ["MONDO:0020367", "DOID:1068", "orphanet:98977", "UMLS:C2981140", "MEDDRA:10064032", "SNOMEDCT:71111008", "medgen:453382"], "information_content": 87.2}
{"id": "MONDO:0020364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polymorphous corneal dystrophy", "equivalent_identifiers": ["MONDO:0020364", "DOID:0060457", "OMIM.PS:122000", "orphanet:98973", "medgen:87382", "icd11.foundation:935421185"], "information_content": 89.4}
{"id": "HP:0011491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced number of corneal endothelial cells", "equivalent_identifiers": ["HP:0011491", "UMLS:C4023329"], "information_content": 95.4}
{"id": "HP:0100692", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased corneal curvature", "equivalent_identifiers": ["HP:0100692", "UMLS:C4020956"], "information_content": 92.8}
{"id": "MONDO:0016521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular pseudohypertrophy-hypothyroidism syndrome", "equivalent_identifiers": ["MONDO:0016521", "orphanet:2349", "UMLS:C0270958", "MEDDRA:10090560", "MEDDRA:10090563", "SNOMEDCT:716338001", "medgen:82860"], "information_content": 100.0}
{"id": "MONDO:0005563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NUT Carcinoma", "equivalent_identifiers": ["MONDO:0005563", "DOID:0060463", "orphanet:443167", "EFO:0005783", "UMLS:C1707291", "UMLS:CN237663", "MEDDRA:10078295", "NCIT:C45716", "SNOMEDCT:1187622004", "SNOMEDCT:733922002", "medgen:312999"], "information_content": 80.6}
{"id": "MONDO:0021049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar neoplasm", "equivalent_identifiers": ["MONDO:0021049", "UMLS:C0042995", "MEDDRA:10049575", "MEDDRA:10062135", "NCIT:C3443", "SNOMEDCT:126922007", "medgen:22689", "HP:0030416"], "information_content": 66.4}
{"id": "MONDO:0005321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fuchs' endothelial dystrophy", "equivalent_identifiers": ["MONDO:0005321", "DOID:11555", "OMIM.PS:136800", "orphanet:98974", "UMLS:C0016781", "MESH:D005642", "MEDDRA:10062973", "NCIT:C84721", "SNOMEDCT:193839007", "medgen:4800", "ICD10:H18.51"], "information_content": 85.5}
{"id": "MONDO:0100566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic epilepsy in infancy", "equivalent_identifiers": ["MONDO:0100566", "orphanet:86909", "UMLS:C0751120", "SNOMEDCT:192990004", "medgen:148242"], "information_content": 100.0}
{"id": "MONDO:0016730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gangliocytoma", "equivalent_identifiers": ["MONDO:0016730", "DOID:2426", "orphanet:251937", "UMLS:C5779630", "MESH:D005729", "MEDDRA:10017700", "NCIT:C6934", "medgen:1830324", "HP:0034952"], "information_content": 90.9}
{"id": "HP:0009966", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Complete duplication of the middle phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009966", "UMLS:C4024140"], "information_content": 100.0}
{"id": "HP:0009970", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial duplication of the proximal phalanx of the 3rd finger", "equivalent_identifiers": ["HP:0009970", "UMLS:C4024137"], "information_content": 100.0}
{"id": "HP:0100345", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial deviation of the 2nd toe", "equivalent_identifiers": ["HP:0100345", "UMLS:C4022135"], "information_content": 100.0}
{"id": "HP:0100347", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tibial deviation of the 5th toe", "equivalent_identifiers": ["HP:0100347", "UMLS:C4022133"], "information_content": 100.0}
{"id": "MONDO:0008754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia - contractures - dwarfism - intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008754", "OMIM:203550", "orphanet:1005", "UMLS:C0795895", "MESH:C537051", "medgen:167081"], "information_content": 100.0}
{"id": "MONDO:0005584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital left-sided heart lesions", "equivalent_identifiers": ["MONDO:0005584", "EFO:0005938", "UMLS:C4022397", "medgen:868006", "HP:0045017"], "information_content": 89.4}
{"id": "MONDO:0012727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucocutaneous lymph node syndrome", "equivalent_identifiers": ["MONDO:0012727", "DOID:13378", "OMIM:611775", "orphanet:2331", "EFO:0004246", "UMLS:C0026691", "UMLS:C2936917", "MESH:C537014", "MESH:D009080", "MEDDRA:10000747", "MEDDRA:10023320", "MEDDRA:10028083", "NCIT:C34825", "SNOMEDCT:75053002", "medgen:10118", "icd11.foundation:540285662", "ICD10:M30.3", "ICD9:446.1"], "information_content": 100.0}
{"id": "HP:0025537", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plantar edema", "equivalent_identifiers": ["HP:0025537", "UMLS:C0240772"], "information_content": 100.0}
{"id": "HP:0025538", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Palmar edema", "equivalent_identifiers": ["HP:0025538", "UMLS:C0859238", "MEDDRA:10030121", "MEDDRA:10054500"], "information_content": 100.0}
{"id": "HP:0031042", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Strawberry tongue", "equivalent_identifiers": ["HP:0031042", "NCIT:C168443", "UMLS:C0241262", "UMLS:C0267043", "MEDDRA:10051495", "MEDDRA:10051519", "SNOMEDCT:42631002", "SNOMEDCT:5920007"], "information_content": 100.0}
{"id": "MONDO:0017284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xp22.13p22.2 duplication syndrome", "equivalent_identifiers": ["MONDO:0017284", "orphanet:284180", "UMLS:C5190686", "SNOMEDCT:782877002", "medgen:1684472"], "information_content": 100.0}
{"id": "HP:0007362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the brainstem", "equivalent_identifiers": ["HP:0007362", "UMLS:C4024904"], "information_content": 95.4}
{"id": "HP:0100766", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal lymphatic vessel morphology", "equivalent_identifiers": ["HP:0100766", "UMLS:C4021974"], "information_content": 80.2}
{"id": "MONDO:0018752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exercise-induced malignant hyperthermia", "equivalent_identifiers": ["MONDO:0018752", "orphanet:466650", "UMLS:C4544037", "UMLS:C5700399", "SNOMEDCT:1237338002", "SNOMEDCT:735907005", "medgen:1814609", "HP:0034732"], "information_content": 100.0}
{"id": "MONDO:0017093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "unilateral focal polymicrogyria", "equivalent_identifiers": ["MONDO:0017093", "DOID:0080919", "orphanet:268947", "UMLS:C5680773", "medgen:1842371", "icd11.foundation:1006662041"], "information_content": 100.0}
{"id": "HP:0030743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glial remnants anterior to the optic disc", "equivalent_identifiers": ["HP:0030743", "UMLS:C4280791", "MEDDRA:10081443"], "information_content": 100.0}
{"id": "HP:0030744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyaloid vascular remnant and retrolental mass", "equivalent_identifiers": ["HP:0030744", "UMLS:C4280790"], "information_content": 100.0}
{"id": "MONDO:0007085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia-epilepsy-pyorrhea-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0007085", "OMIM:104130", "orphanet:1008", "UMLS:C1863090", "MESH:C537057", "SNOMEDCT:720980004", "medgen:350833"], "information_content": 100.0}
{"id": "MONDO:0015082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia antibody deficiency", "equivalent_identifiers": ["MONDO:0015082", "orphanet:1006", "UMLS:C5190867", "SNOMEDCT:783205005", "medgen:1683018"], "information_content": 100.0}
{"id": "MONDO:0019556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pressure-induced localized lipoatrophy", "equivalent_identifiers": ["MONDO:0019556", "orphanet:90160", "UMLS:C0333665", "UMLS:C1260961", "SNOMEDCT:238898001", "SNOMEDCT:31040001", "medgen:687584"], "information_content": 100.0}
{"id": "MONDO:0017967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anorchism", "equivalent_identifiers": ["MONDO:0017967", "orphanet:325124", "UMLS:C0405582", "UMLS:C1261504", "MEDDRA:10002641", "MEDDRA:10087911", "SNOMEDCT:1003548004", "SNOMEDCT:274151005", "SNOMEDCT:371015003", "medgen:98344", "icd11.foundation:1382370664", "HP:0030869"], "information_content": 100.0}
{"id": "MONDO:0016514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex with anodontia/hypodontia", "equivalent_identifiers": ["MONDO:0016514", "orphanet:2325", "UMLS:C0432313", "SNOMEDCT:254177003", "medgen:609450"], "information_content": 100.0}
{"id": "MONDO:0019554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic localized lipodystrophy", "equivalent_identifiers": ["MONDO:0019554", "orphanet:90158", "UMLS:C0473566", "SNOMEDCT:238897006", "medgen:633314"], "information_content": 100.0}
{"id": "MONDO:0019555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panniculitis and localized lipodystrophy", "equivalent_identifiers": ["MONDO:0019555", "orphanet:90159", "UMLS:C5190785", "SNOMEDCT:783014007", "medgen:1678538"], "information_content": 100.0}
{"id": "MONDO:0016512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kabuki syndrome", "equivalent_identifiers": ["MONDO:0016512", "DOID:0060473", "OMIM.PS:147920", "orphanet:2322", "UMLS:C0796004", "MESH:C537705", "MEDDRA:10063935", "MEDDRA:10063936", "NCIT:C124837", "SNOMEDCT:313426007", "medgen:162897", "icd11.foundation:1104246467"], "information_content": 92.8}
{"id": "MONDO:0019088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "post-transplant lymphoproliferative disease", "equivalent_identifiers": ["MONDO:0019088", "orphanet:70568", "UMLS:C0432487", "MEDDRA:10051358", "NCIT:C4727", "SNOMEDCT:1155771008", "SNOMEDCT:254290004", "medgen:98160"], "information_content": 78.0}
{"id": "MONDO:0017184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hyperinsulinism due to SUR1 deficiency", "equivalent_identifiers": ["MONDO:0017184", "orphanet:276575", "UMLS:C4274080", "SNOMEDCT:717046003", "medgen:900764"], "information_content": 100.0}
{"id": "MONDO:0012650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cernunnos-XLF deficiency", "equivalent_identifiers": ["MONDO:0012650", "DOID:0061090", "OMIM:611291", "orphanet:169079", "UMLS:C1969799", "UMLS:C4303792", "MESH:C566970", "NCIT:C162695", "SNOMEDCT:720853005", "medgen:369590"], "information_content": 100.0}
{"id": "MONDO:0019552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "centrifugal lipodystrophy", "equivalent_identifiers": ["MONDO:0019552", "orphanet:90156", "UMLS:C0406605", "SNOMEDCT:238899009", "medgen:590539", "icd11.foundation:1561732835"], "information_content": 100.0}
{"id": "MONDO:0019553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug-induced localized lipodystrophy", "equivalent_identifiers": ["MONDO:0019553", "orphanet:90157", "UMLS:C1274983", "SNOMEDCT:403661001", "medgen:698295"], "information_content": 100.0}
{"id": "MONDO:0017802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian fibrothecoma", "equivalent_identifiers": ["MONDO:0017802", "orphanet:314478", "UMLS:C4707356", "MEDDRA:10082757", "SNOMEDCT:765190005", "medgen:1635957"], "information_content": 100.0}
{"id": "MONDO:0016515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kallmann syndrome-heart disease syndrome", "equivalent_identifiers": ["MONDO:0016515", "orphanet:2326", "UMLS:C4302897", "SNOMEDCT:722027009", "medgen:928566"], "information_content": 100.0}
{"id": "MONDO:0017185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hyperinsulinism due to Kir6.2 deficiency", "equivalent_identifiers": ["MONDO:0017185", "orphanet:276580", "UMLS:C4274081", "SNOMEDCT:717045004", "medgen:903936"], "information_content": 100.0}
{"id": "MONDO:0016724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary tumor of the pineal region", "equivalent_identifiers": ["MONDO:0016724", "DOID:0081251", "orphanet:251915", "EFO:1000451", "UMLS:C2985219", "NCIT:C92624", "SNOMEDCT:1156472008", "SNOMEDCT:450899004", "medgen:457445"], "information_content": 100.0}
{"id": "HP:0030531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Altitudinal visual field defect", "equivalent_identifiers": ["HP:0030531", "UMLS:C4073005"], "information_content": 100.0}
{"id": "HP:0012787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent pyelonephritis", "equivalent_identifiers": ["HP:0012787", "UMLS:C0748199"], "information_content": 100.0}
{"id": "MONDO:0010180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spondylocostal dysostosis", "equivalent_identifiers": ["MONDO:0010180", "orphanet:2311", "MESH:C535781", "SNOMEDCT:61367005"], "information_content": 88.2}
{"id": "MONDO:0007837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Johnson neuroectodermal syndrome", "equivalent_identifiers": ["MONDO:0007837", "OMIM:147770", "orphanet:2316", "UMLS:C0796002", "MESH:C535882", "SNOMEDCT:721584005", "medgen:167092", "icd11.foundation:1480597785"], "information_content": 100.0}
{"id": "MONDO:0018865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "striate palmoplantar keratoderma", "equivalent_identifiers": ["MONDO:0018865", "DOID:0081105", "orphanet:50942", "UMLS:C4707237", "SNOMEDCT:764958008", "medgen:1631598", "icd11.foundation:1171134598"], "information_content": 92.8}
{"id": "MONDO:0018189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome", "equivalent_identifiers": ["MONDO:0018189", "orphanet:363429", "UMLS:C4706388", "SNOMEDCT:763312008", "medgen:1644588"], "information_content": 92.8}
{"id": "MONDO:0016723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pineocytoma", "equivalent_identifiers": ["MONDO:0016723", "DOID:0081248", "orphanet:251912", "EFO:1000476", "UMLS:C0917890", "MEDDRA:10035059", "NCIT:C6966", "SNOMEDCT:1156473003", "SNOMEDCT:255045009", "SNOMEDCT:89096009", "medgen:183004", "icd11.foundation:2055142333", "HP:0030407"], "information_content": 95.4}
{"id": "MONDO:0016466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asbestosis", "equivalent_identifiers": ["MONDO:0016466", "DOID:10320", "orphanet:2302", "EFO:0007153", "UMLS:C0003949", "MESH:D001195", "MEDDRA:10003441", "NCIT:C84573", "SNOMEDCT:22607003", "medgen:2462", "icd11.foundation:898495881", "ICD10:J61", "ICD9:501"], "information_content": 100.0}
{"id": "HP:0031998", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late inspiratory crackles", "equivalent_identifiers": ["HP:0031998", "UMLS:C4732799"], "information_content": 100.0}
{"id": "MONDO:0014097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital short bowel syndrome", "equivalent_identifiers": ["MONDO:0014097", "orphanet:2301", "UMLS:C5441717", "SNOMEDCT:715201005", "medgen:1784105", "icd11.foundation:1672462112"], "information_content": 92.8}
{"id": "MONDO:0009465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple intestinal atresia", "equivalent_identifiers": ["MONDO:0009465", "DOID:14671", "orphanet:2300", "UMLS:C0220744", "MESH:C562441", "MEDDRA:10028210", "SNOMEDCT:95472001", "medgen:65090"], "information_content": 100.0}
{"id": "MONDO:0016471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachyonychia congenita", "equivalent_identifiers": ["MONDO:0016471", "DOID:0050449", "OMIM.PS:167200", "orphanet:2309", "UMLS:C0265334", "MESH:D053549", "MEDDRA:10080088", "NCIT:C84986", "medgen:78556", "icd11.foundation:1446983705"], "information_content": 89.4}
{"id": "HP:0025248", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eruptive vellus hair cyst", "equivalent_identifiers": ["HP:0025248", "UMLS:C0345998", "SNOMEDCT:254685008"], "information_content": 100.0}
{"id": "MONDO:0020295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital pulmonary veins anomaly", "equivalent_identifiers": ["MONDO:0020295", "orphanet:98729", "UMLS:C0265914", "NCIT:C110942", "SNOMEDCT:111322000", "SNOMEDCT:128585006", "SNOMEDCT:199113001", "HP:0011718"], "information_content": 80.2}
{"id": "MONDO:0016467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isotretinoin syndrome", "equivalent_identifiers": ["MONDO:0016467", "orphanet:2305", "UMLS:C2930972", "UMLS:C5550990", "MESH:C535670", "MEDDRA:10073720", "MEDDRA:10073722", "NCIT:C98929", "SNOMEDCT:1237226008", "SNOMEDCT:36871005", "medgen:419683"], "information_content": 100.0}
{"id": "MONDO:0017404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal Xq28 microduplication syndrome", "equivalent_identifiers": ["MONDO:0017404", "orphanet:293939", "UMLS:C4751127", "SNOMEDCT:773670004", "medgen:1655645"], "information_content": 100.0}
{"id": "MONDO:0019093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency due to selective anti-polysaccharide antibody deficiency", "equivalent_identifiers": ["MONDO:0019093", "orphanet:70593", "UMLS:C0398711", "UMLS:C5399780", "SNOMEDCT:234556002", "medgen:1747183", "icd11.foundation:849949348", "HP:0012475"], "information_content": 79.6}
{"id": "HP:0031949", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent bacterial upper respiratory tract infections", "equivalent_identifiers": ["HP:0031949", "UMLS:C4732772"], "information_content": 100.0}
{"id": "MONDO:0018133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "attenuated Chédiak-Higashi syndrome", "equivalent_identifiers": ["MONDO:0018133", "orphanet:352723", "UMLS:C4304022", "SNOMEDCT:720520009", "medgen:929691"], "information_content": 100.0}
{"id": "HP:0025025", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectovestibular fistula", "equivalent_identifiers": ["HP:0025025", "UMLS:C4293695"], "information_content": 95.4}
{"id": "MONDO:0005851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miller Fisher syndrome", "equivalent_identifiers": ["MONDO:0005851", "DOID:12889", "orphanet:98919", "EFO:0007371", "UMLS:C0393799", "MESH:D019846", "MEDDRA:10049567", "MEDDRA:10076684", "NCIT:C116958", "SNOMEDCT:1767005", "medgen:95994", "icd11.foundation:134795253"], "information_content": 100.0}
{"id": "HP:0034122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-GQ1b antibody positivity", "equivalent_identifiers": ["HP:0034122", "UMLS:C5676718"], "information_content": 92.8}
{"id": "orphanet:98914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Presynaptic congenital myasthenic syndromes", "equivalent_identifiers": ["orphanet:98914"]}
{"id": "orphanet:98915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synaptic congenital myasthenic syndromes", "equivalent_identifiers": ["orphanet:98915"]}
{"id": "HP:0030203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unfavorable response of muscle weakness to acetylcholine esterase inhibitors", "equivalent_identifiers": ["HP:0030203", "UMLS:C4022580"], "information_content": 100.0}
{"id": "MONDO:0020347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute inflammatory demyelinating polyradiculoneuropathy", "equivalent_identifiers": ["MONDO:0020347", "orphanet:98916", "UMLS:C4551910", "MEDDRA:10067604", "MEDDRA:10067898", "MEDDRA:10087910", "NCIT:C116926", "SNOMEDCT:26261000119109", "medgen:1648220", "icd11.foundation:1196874419"], "information_content": 100.0}
{"id": "HP:0030226", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal muscle fiber myotilin", "equivalent_identifiers": ["HP:0030226", "UMLS:C4022572"], "information_content": 95.4}
{"id": "HP:0012496", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced maximal inspiratory pressure", "equivalent_identifiers": ["HP:0012496", "UMLS:C4022880"], "information_content": 100.0}
{"id": "MONDO:0020344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postsynaptic congenital myasthenic syndrome", "equivalent_identifiers": ["MONDO:0020344", "orphanet:98913", "UMLS:C0751883", "medgen:199758"], "information_content": 80.6}
{"id": "HP:0001446", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the musculature of the upper limbs", "equivalent_identifiers": ["HP:0001446", "UMLS:C4025779"], "information_content": 67.3}
{"id": "HP:0012415", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood gas level", "equivalent_identifiers": ["HP:0012415", "UMLS:C0476337", "MEDDRA:10005539", "MEDDRA:10005542", "SNOMEDCT:312391003"], "information_content": 75.0}
{"id": "HP:0040191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rectus femoris muscle atrophy", "equivalent_identifiers": ["HP:0040191", "UMLS:C2083352"], "information_content": 100.0}
{"id": "HP:0030497", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular cotton wool spot", "equivalent_identifiers": ["HP:0030497", "UMLS:C4072985"], "information_content": 100.0}
{"id": "HP:0031805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intraretinal hemorrhage", "equivalent_identifiers": ["HP:0031805", "UMLS:C4551659", "MEDDRA:10005122"], "information_content": 92.8}
{"id": "MONDO:0018755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scorpion envenomation", "equivalent_identifiers": ["MONDO:0018755", "orphanet:466677", "UMLS:C0413114", "SNOMEDCT:217670007"], "information_content": 100.0}
{"id": "MONDO:0019489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse palmoplantar keratoderma - acrocyanosis syndrome", "equivalent_identifiers": ["MONDO:0019489", "orphanet:86918", "UMLS:C4303588", "SNOMEDCT:721096008", "medgen:929257"], "information_content": 100.0}
{"id": "MONDO:0013024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic thromboembolic pulmonary hypertension", "equivalent_identifiers": ["MONDO:0013024", "OMIM:612862", "orphanet:70591", "UMLS:C2363973", "UMLS:C2748504", "MEDDRA:10068739", "MEDDRA:10068740", "NCIT:C197871", "SNOMEDCT:233947005", "medgen:440560", "icd11.foundation:1567490107"], "information_content": 100.0}
{"id": "HP:0012146", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of von Willebrand factor", "equivalent_identifiers": ["HP:0012146", "UMLS:C4023023"], "information_content": 82.1}
{"id": "MONDO:0015695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to CRAC channel dysfunction", "equivalent_identifiers": ["MONDO:0015695", "orphanet:169090", "UMLS:C4303571", "SNOMEDCT:717811007", "medgen:929240", "icd11.foundation:1641826886"], "information_content": 92.8}
{"id": "MONDO:0017405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1p21.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0017405", "orphanet:293948", "UMLS:C4304578", "SNOMEDCT:719600006", "medgen:930247"], "information_content": 100.0}
{"id": "MONDO:0018842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary effusion lymphoma", "equivalent_identifiers": ["MONDO:0018842", "orphanet:48686", "EFO:1000491", "UMLS:C1292753", "MESH:D054685", "MEDDRA:10065857", "NCIT:C6915", "SNOMEDCT:128800006", "SNOMEDCT:713516007", "medgen:220953", "icd11.foundation:697911710"], "information_content": 85.5}
{"id": "MONDO:0019091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchopulmonary dysplasia", "equivalent_identifiers": ["MONDO:0019091", "DOID:11650", "orphanet:70589", "UMLS:C0006287", "UMLS:C0495402", "MESH:D001997", "MEDDRA:10006475", "MEDDRA:10066204", "NCIT:C90599", "SNOMEDCT:67569000", "medgen:2738", "icd11.foundation:1462855296", "ICD10:P27.1"], "information_content": 90.9}
{"id": "HP:0012419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperoxemia", "equivalent_identifiers": ["HP:0012419", "UMLS:C4022910"], "information_content": 95.4}
{"id": "MONDO:0009524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-spasticity-ectrodactyly syndrome", "equivalent_identifiers": ["MONDO:0009524", "OMIM:246555", "orphanet:1891", "UMLS:C0796001", "UMLS:C1855501", "MESH:C537446", "MESH:C565438", "SNOMEDCT:763743003", "medgen:340888"], "information_content": 100.0}
{"id": "MONDO:0018461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angelman syndrome due to a point mutation", "equivalent_identifiers": ["MONDO:0018461", "orphanet:411511", "UMLS:C5681146", "medgen:1842258"], "information_content": 100.0}
{"id": "MONDO:0018462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angelman syndrome due to imprinting defect in 15q11-q13", "equivalent_identifiers": ["MONDO:0018462", "orphanet:411515", "UMLS:C5681834", "medgen:1826135"], "information_content": 100.0}
{"id": "MONDO:0006851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meconium aspiration syndrome", "equivalent_identifiers": ["MONDO:0006851", "DOID:11049", "orphanet:70588", "EFO:1001037", "UMLS:C0025048", "MESH:D008471", "MEDDRA:10027057", "MEDDRA:10076496", "NCIT:C87093", "SNOMEDCT:206292002", "medgen:6258", "icd11.foundation:872221482", "ICD10:P24.01"], "information_content": 100.0}
{"id": "HP:0001001", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of subcutaneous fat tissue", "equivalent_identifiers": ["HP:0001001", "UMLS:C4025813"], "information_content": 80.2}
{"id": "MONDO:0018135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 1", "equivalent_identifiers": ["MONDO:0018135", "orphanet:352731", "UMLS:C0268494", "MESH:C537728", "SNOMEDCT:765146000", "medgen:82809"], "information_content": 89.4}
{"id": "HP:0025568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the choroidal vasculature", "equivalent_identifiers": ["HP:0025568", "UMLS:C4703390"], "information_content": 85.5}
{"id": "MONDO:0044737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction", "equivalent_identifiers": ["MONDO:0044737", "DOID:0112349", "orphanet:506353", "UMLS:C5568576", "SNOMEDCT:1186734006", "medgen:1799999"], "information_content": 100.0}
{"id": "HP:0030182", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tetraplegia/tetraparesis", "equivalent_identifiers": ["HP:0030182", "UMLS:C4022595"], "information_content": 89.4}
{"id": "HP:0011311", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sydney crease", "equivalent_identifiers": ["HP:0011311", "UMLS:C4023420"], "information_content": 100.0}
{"id": "orphanet:293978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deficiency in anterior pituitary function-variable immunodeficiency syndrome", "equivalent_identifiers": ["orphanet:293978"]}
{"id": "MONDO:0008998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cockayne syndrome type 3", "equivalent_identifiers": ["MONDO:0008998", "orphanet:90324", "UMLS:C0751037", "SNOMEDCT:890432001", "medgen:196713", "icd11.foundation:1401163130"], "information_content": 100.0}
{"id": "MONDO:0017408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome", "equivalent_identifiers": ["MONDO:0017408", "orphanet:293987", "UMLS:C4751121", "MEDDRA:10081396", "MEDDRA:10081397", "NCIT:C121944", "SNOMEDCT:773663004", "medgen:1670711"], "information_content": 100.0}
{"id": "MONDO:0018695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "avian influenza", "equivalent_identifiers": ["MONDO:0018695", "DOID:4492", "orphanet:454836", "EFO:0005222", "UMLS:C0016627", "MESH:D005585", "MEDDRA:10064097", "MEDDRA:10073988", "SNOMEDCT:55604004", "medgen:42091", "ICD10:J09.X"], "information_content": 100.0}
{"id": "MONDO:0018922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cold agglutinin disease", "equivalent_identifiers": ["MONDO:0018922", "orphanet:56425", "UMLS:C1264008", "SNOMEDCT:127055007", "medgen:688249"], "information_content": 100.0}
{"id": "MONDO:0018342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy", "equivalent_identifiers": ["MONDO:0018342", "orphanet:397715", "UMLS:C4518774", "SNOMEDCT:733418003", "medgen:1371401"], "information_content": 92.8}
{"id": "HP:0006668", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Twelfth rib hypoplasia", "equivalent_identifiers": ["HP:0006668", "UMLS:C1859361"], "information_content": 100.0}
{"id": "HP:0010013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal 5th metacarpal morphology", "equivalent_identifiers": ["HP:0010013", "UMLS:C4024110"], "information_content": 84.2}
{"id": "MONDO:0017722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandhoff disease, juvenile form", "equivalent_identifiers": ["MONDO:0017722", "orphanet:309162", "UMLS:C0342806", "UMLS:C0751491", "SNOMEDCT:238019007", "medgen:148320"], "information_content": 100.0}
{"id": "MONDO:0017406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0017406", "orphanet:293967", "UMLS:C4751123", "SNOMEDCT:773665006", "medgen:1663043"], "information_content": 100.0}
{"id": "HP:0011408", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moderate intrauterine growth retardation", "equivalent_identifiers": ["HP:0011408", "UMLS:C4023370"], "information_content": 100.0}
{"id": "MONDO:0017723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandhoff disease, adult form", "equivalent_identifiers": ["MONDO:0017723", "orphanet:309169", "UMLS:C0342807", "UMLS:C0751489", "SNOMEDCT:238020001", "medgen:148319"], "information_content": 100.0}
{"id": "HP:0032203", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lymphoid nodular hyperplasia", "equivalent_identifiers": ["HP:0032203"], "information_content": 100.0}
{"id": "MONDO:0019076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "circumscribed palmoplantar hypokeratosis", "equivalent_identifiers": ["MONDO:0019076", "orphanet:69744", "UMLS:C0406762", "SNOMEDCT:239073008", "medgen:590662"], "information_content": 100.0}
{"id": "MONDO:0033938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute radiation syndrome", "equivalent_identifiers": ["MONDO:0033938", "orphanet:454831", "UMLS:C0520799", "MESH:D054508", "MEDDRA:10001036", "MEDDRA:10001037", "SNOMEDCT:1260191006"], "information_content": 100.0}
{"id": "MONDO:0016051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft lip-retinopathy syndrome", "equivalent_identifiers": ["MONDO:0016051", "orphanet:1995", "UMLS:C2931789", "MESH:C538272", "SNOMEDCT:732247000", "medgen:419494"], "information_content": 100.0}
{"id": "MONDO:0019074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral acute depigmentation of the iris", "equivalent_identifiers": ["MONDO:0019074", "orphanet:69736", "UMLS:C4304058", "SNOMEDCT:720460007", "medgen:929727"], "information_content": 100.0}
{"id": "HP:0012634", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Iris pigment dispersion", "equivalent_identifiers": ["HP:0012634", "UMLS:C4022813"], "information_content": 100.0}
{"id": "MONDO:0018573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intrauterine growth restriction-short stature-early adult-onset diabetes syndrome", "equivalent_identifiers": ["MONDO:0018573", "orphanet:436144", "UMLS:C5681180", "SNOMEDCT:1197592001", "medgen:1801791"], "information_content": 100.0}
{"id": "MONDO:0007670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)", "equivalent_identifiers": ["MONDO:0007670", "orphanet:69735"], "information_content": 92.8}
{"id": "MONDO:0018572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome", "equivalent_identifiers": ["MONDO:0018572", "orphanet:436141", "UMLS:C5681179", "SNOMEDCT:1197591008", "medgen:1808836"], "information_content": 100.0}
{"id": "MONDO:0011934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatofibrosarcoma protuberans", "equivalent_identifiers": ["MONDO:0011934", "DOID:3507", "OMIM:607907", "orphanet:31112", "UMLS:C0206647", "UMLS:C0392784", "UMLS:C3693482", "MESH:D018223", "MEDDRA:10057043", "MEDDRA:10057070", "NCIT:C4683", "NCIT:C4700", "SNOMEDCT:128742004", "SNOMEDCT:238863004", "SNOMEDCT:276799004", "SNOMEDCT:76594008", "medgen:811326", "icd11.foundation:1579898301"], "information_content": 82.6}
{"id": "MONDO:0007339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharocheilodontic syndrome", "equivalent_identifiers": ["MONDO:0007339", "DOID:0080344", "OMIM.PS:119580", "orphanet:1997", "UMLS:C1861536", "MESH:C536188", "SNOMEDCT:717911008", "medgen:349302", "icd11.foundation:755252042"], "information_content": 90.9}
{"id": "MONDO:0017721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandhoff disease, infantile form", "equivalent_identifiers": ["MONDO:0017721", "orphanet:309155", "UMLS:C0342805", "UMLS:C0751490", "SNOMEDCT:238018004", "medgen:199669"], "information_content": 100.0}
{"id": "MONDO:0018546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "serotonin syndrome", "equivalent_identifiers": ["MONDO:0018546", "orphanet:43116", "EFO:1001842", "UMLS:C0699828", "MESH:D020230", "MEDDRA:10040108", "SNOMEDCT:371089000", "medgen:152119", "icd11.foundation:678764364"], "information_content": 100.0}
{"id": "MONDO:0018702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TAFRO syndrome", "equivalent_identifiers": ["MONDO:0018702", "orphanet:457077", "UMLS:C4552543", "MEDDRA:10081058", "SNOMEDCT:1187615007", "medgen:1672503"], "information_content": 100.0}
{"id": "HP:0031052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated vascular endothelial growth factor level", "equivalent_identifiers": ["HP:0031052", "UMLS:C4476933"], "information_content": 100.0}
{"id": "HP:0032288", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyclonal elevation of circulating IgG", "equivalent_identifiers": ["HP:0032288", "UMLS:C5139245"], "information_content": 100.0}
{"id": "MONDO:0008947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fahr's disease", "equivalent_identifiers": ["MONDO:0008947", "DOID:0060230", "OMIM.PS:213600", "orphanet:1980", "UMLS:C0393589", "UMLS:C0393590", "MESH:C536275", "MEDDRA:10059626", "SNOMEDCT:110997000", "SNOMEDCT:230311004", "icd11.foundation:1081370436"], "information_content": 84.8}
{"id": "HP:0032180", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating metabolite concentration", "equivalent_identifiers": ["HP:0032180", "UMLS:C5139177"], "information_content": 51.2}
{"id": "HP:0032555", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bounding pulse", "equivalent_identifiers": ["HP:0032555", "UMLS:C0425574", "MEDDRA:10037470", "SNOMEDCT:271640005"], "information_content": 100.0}
{"id": "MONDO:0017476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "upper limb hypertrophy", "equivalent_identifiers": ["MONDO:0017476", "orphanet:295049", "UMLS:C0575518", "SNOMEDCT:298745009", "medgen:488921", "icd11.foundation:663591902", "HP:0010484"], "information_content": 95.4}
{"id": "HP:0031939", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conus terminalis arteriovenous malformation", "equivalent_identifiers": ["HP:0031939", "UMLS:C4732766"], "information_content": 100.0}
{"id": "HP:3000007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of mentalis muscle", "equivalent_identifiers": ["HP:3000007", "UMLS:C4073216"], "information_content": 100.0}
{"id": "MONDO:0012032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Braddock syndrome", "equivalent_identifiers": ["MONDO:0012032", "OMIM:608406", "orphanet:52047", "UMLS:C1842082", "UMLS:C4303988", "MESH:C564244", "SNOMEDCT:720575002", "medgen:333986"], "information_content": 100.0}
{"id": "MONDO:0016658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "8p23.1 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016658", "orphanet:251071", "UMLS:C2931638", "MESH:C537827", "SNOMEDCT:716381003", "medgen:419458"], "information_content": 100.0}
{"id": "MONDO:0009205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "faciocardiorenal syndrome", "equivalent_identifiers": ["MONDO:0009205", "OMIM:227280", "orphanet:1973", "UMLS:C0795936", "MESH:C536388", "SNOMEDCT:723333000", "medgen:208649"], "information_content": 100.0}
{"id": "MONDO:0009074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome", "equivalent_identifiers": ["MONDO:0009074", "OMIM:220219", "orphanet:1970", "UMLS:C1857352", "MESH:C535985", "medgen:341752"], "information_content": 100.0}
{"id": "MONDO:0018703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated splenogonadal fusion", "equivalent_identifiers": ["MONDO:0018703", "orphanet:457083"], "information_content": 100.0}
{"id": "HP:0032404", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Testicular mass", "equivalent_identifiers": ["HP:0032404", "NCIT:C61394", "UMLS:C0241353", "MEDDRA:10058901", "SNOMEDCT:87860000"], "information_content": 71.3}
{"id": "MONDO:0018614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "undetermined early-onset epileptic encephalopathy", "equivalent_identifiers": ["MONDO:0018614", "orphanet:442835", "UMLS:C5680057", "medgen:1826068"], "information_content": 81.3}
{"id": "MONDO:0009312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy due to peptidic growth factors deficiency", "equivalent_identifiers": ["MONDO:0009312", "OMIM:233805", "orphanet:1979", "UMLS:C2931279", "MESH:C565529", "SNOMEDCT:724176001", "medgen:419375", "icd11.foundation:1235390174"], "information_content": 100.0}
{"id": "MONDO:0016659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "8p23.1 duplication syndrome", "equivalent_identifiers": ["MONDO:0016659", "orphanet:251076", "UMLS:C4707330", "SNOMEDCT:765140006", "medgen:1645138"], "information_content": 100.0}
{"id": "MONDO:0012063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulnar/fibula ray defect-brachydactyly syndrome", "equivalent_identifiers": ["MONDO:0012063", "OMIM:608571", "orphanet:52056", "UMLS:C1837830", "UMLS:C4304397", "MESH:C563905", "SNOMEDCT:719843001", "medgen:324890"], "information_content": 100.0}
{"id": "MONDO:0016614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive ataxia due to PEX10 deficiency", "equivalent_identifiers": ["MONDO:0016614", "orphanet:247815", "UMLS:C5679614", "medgen:1843173"], "information_content": 100.0}
{"id": "HP:0010965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating phytanic acid concentration", "equivalent_identifiers": ["HP:0010965", "UMLS:C4023623", "UMLS:C5139052"], "information_content": 95.4}
{"id": "MONDO:0015529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paroxysmal Hemicrania", "equivalent_identifiers": ["MONDO:0015529", "orphanet:157835", "EFO:1001822", "UMLS:C1399352", "MESH:D051302", "SNOMEDCT:443094001", "medgen:235603", "icd11.foundation:959737563"], "information_content": 100.0}
{"id": "MONDO:0018589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AApoAIV amyloidosis", "equivalent_identifiers": ["MONDO:0018589", "DOID:0080927", "orphanet:439232", "UMLS:C5568805", "SNOMEDCT:1187124004", "medgen:1800228", "icd11.foundation:1235542353"], "information_content": 100.0}
{"id": "HP:0034807", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paroxysmal nocturnal dyspnea", "equivalent_identifiers": ["HP:0034807", "NCIT:C34561", "UMLS:C1956415", "MEDDRA:10013967", "MEDDRA:10013974", "MEDDRA:10034041", "MEDDRA:10055551", "SNOMEDCT:55442000"], "information_content": 100.0}
{"id": "MONDO:0019575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis simplex of the scalp", "equivalent_identifiers": ["MONDO:0019575", "orphanet:90368", "SNOMEDCT:717256009"], "information_content": 92.8}
{"id": "HP:0100134", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the axillary hair", "equivalent_identifiers": ["HP:0100134", "UMLS:C4022287"], "information_content": 92.8}
{"id": "MONDO:0016031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FACES syndrome", "equivalent_identifiers": ["MONDO:0016031", "orphanet:1969", "UMLS:C2931183", "MESH:C536384", "SNOMEDCT:782949007", "medgen:419355"], "information_content": 100.0}
{"id": "MONDO:0016657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "8p11.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0016657", "orphanet:251066", "UMLS:C4304505", "SNOMEDCT:719646006", "medgen:930174"], "information_content": 100.0}
{"id": "HP:0100276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skin pit", "equivalent_identifiers": ["HP:0100276", "UMLS:C4020712", "UMLS:C4022172"], "information_content": 81.7}
{"id": "HP:0011472", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal small intestinal villus morphology", "equivalent_identifiers": ["HP:0011472", "UMLS:C4023341"], "information_content": 84.2}
{"id": "HP:0025624", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased CD4+ effector memory T cell proportion", "equivalent_identifiers": ["HP:0025624", "UMLS:C5139095"], "information_content": 100.0}
{"id": "HP:0031686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased stool alpha1-antitrypsin concentration", "equivalent_identifiers": ["HP:0031686", "UMLS:C4703479"], "information_content": 100.0}
{"id": "MONDO:0019201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyrotoxic periodic paralysis", "equivalent_identifiers": ["MONDO:0019201", "OMIM.PS:188580", "orphanet:79102", "UMLS:C0268446", "MEDDRA:10043788", "SNOMEDCT:30967002", "medgen:120639", "icd11.foundation:1457837313"], "information_content": 90.9}
{"id": "HP:0011785", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyrotoxicosis with toxic multinodular goiter", "equivalent_identifiers": ["HP:0011785", "UMLS:C0154143", "MEDDRA:10044231", "MEDDRA:10044234", "SNOMEDCT:26389007"], "information_content": 100.0}
{"id": "HP:0011786", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thyrotoxicosis with toxic single thyroid nodule", "equivalent_identifiers": ["HP:0011786", "UMLS:C0154141", "MEDDRA:10043753", "MEDDRA:10044253", "MEDDRA:10044256", "SNOMEDCT:69329005", "SNOMEDCT:73869005"], "information_content": 100.0}
{"id": "MONDO:0019574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary intestinal lymphangiectasia", "equivalent_identifiers": ["MONDO:0019574", "orphanet:90363", "UMLS:C4273969", "SNOMEDCT:717255008", "medgen:908114", "icd11.foundation:1730894033"], "information_content": 100.0}
{"id": "HP:0004788", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intestinal lymphedema", "equivalent_identifiers": ["HP:0004788", "UMLS:C4025292"], "information_content": 100.0}
{"id": "HP:0011741", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Secondary hyperaldosteronism", "equivalent_identifiers": ["HP:0011741", "UMLS:C0271728", "MEDDRA:10001658", "MEDDRA:10039808", "SNOMEDCT:67805000"], "information_content": 100.0}
{"id": "HP:0032136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating IgG1 concentration", "equivalent_identifiers": ["HP:0032136", "UMLS:C5139154"], "information_content": 89.4}
{"id": "HP:0032387", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced circulating transferrin concentration", "equivalent_identifiers": ["HP:0032387", "UMLS:C5139310"], "information_content": 100.0}
{"id": "MONDO:0007588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extrasystoles-short stature-hyperpigmentation-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0007588", "OMIM:133750", "orphanet:1964", "UMLS:C1851412", "MESH:C565032", "medgen:343564"], "information_content": 100.0}
{"id": "MONDO:0016656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "7q31 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016656", "orphanet:251061", "UMLS:C4750783", "SNOMEDCT:773326003", "medgen:1664416"], "information_content": 100.0}
{"id": "MONDO:0016027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign neonatal seizures", "equivalent_identifiers": ["MONDO:0016027", "DOID:14264", "DOID:14777", "OMIM.PS:121200", "orphanet:1949", "UMLS:C0220669", "UMLS:C0270851", "UMLS:C3889476", "UMLS:C5967415", "MESH:D020936", "MEDDRA:10067866", "NCIT:C117307", "NCIT:C84593", "SNOMEDCT:279953009", "SNOMEDCT:38281008", "medgen:65082"], "information_content": 89.4}
{"id": "HP:0032556", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Circumoral cyanosis", "equivalent_identifiers": ["HP:0032556", "UMLS:C1262254", "MEDDRA:10062319"], "information_content": 100.0}
{"id": "MONDO:0009049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cushing syndrome due to macronodular adrenal hyperplasia", "equivalent_identifiers": ["MONDO:0009049", "DOID:0111622", "OMIM.PS:219080", "orphanet:189427", "EFO:0009041", "UMLS:C2062388", "MESH:C565662", "SNOMEDCT:720459002", "medgen:923388"], "information_content": 90.9}
{"id": "HP:0031077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal response to corticotropin releasing hormone stimulation test", "equivalent_identifiers": ["HP:0031077", "UMLS:C4476956"], "information_content": 95.4}
{"id": "orphanet:436182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microcephalic primordial dwarfism-insulin resistance syndrome", "equivalent_identifiers": ["orphanet:436182"]}
{"id": "MONDO:0016030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Evans syndrome", "equivalent_identifiers": ["MONDO:0016030", "DOID:8931", "orphanet:1959", "UMLS:C0272126", "MESH:C536380", "MEDDRA:10053873", "NCIT:C61284", "SNOMEDCT:75331009", "medgen:75773", "icd11.foundation:1048228553", "ICD10:D69.41", "ICD9:287.32"], "information_content": 100.0}
{"id": "MONDO:0100347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carcinoid syndrome", "equivalent_identifiers": ["MONDO:0100347", "orphanet:100093", "EFO:1000852", "UMLS:C0024586", "MESH:D008303", "MEDDRA:10007270", "NCIT:C3215", "SNOMEDCT:35868009", "medgen:6191", "icd11.foundation:111763187"], "information_content": 90.9}
{"id": "HP:0030814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Orange discolored tonsils", "equivalent_identifiers": ["HP:0030814", "UMLS:C4280753"], "information_content": 100.0}
{"id": "MONDO:0009242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brittle cornea syndrome", "equivalent_identifiers": ["MONDO:0009242", "DOID:14775", "OMIM.PS:229200", "orphanet:90354", "SNOMEDCT:719096006"], "information_content": 92.8}
{"id": "MONDO:0015073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gallbladder neuroendocrine tumor, grade 1/2", "equivalent_identifiers": ["MONDO:0015073", "orphanet:100086", "UMLS:C3273116", "NCIT:C96918", "SNOMEDCT:1287711008", "medgen:474749"], "information_content": 89.4}
{"id": "MONDO:0021248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nervous system neoplasm", "equivalent_identifiers": ["MONDO:0021248", "UMLS:C0027766", "MEDDRA:10029208", "MEDDRA:10061311", "NCIT:C3268", "SNOMEDCT:126950007", "medgen:45046", "HP:0004375"], "information_content": 50.1}
{"id": "MONDO:0044648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome", "equivalent_identifiers": ["MONDO:0044648", "orphanet:496689", "UMLS:C5567452", "SNOMEDCT:1172590009", "medgen:1798875"], "information_content": 100.0}
{"id": "HP:0032014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysmetric vertical saccades", "equivalent_identifiers": ["HP:0032014", "UMLS:C4732803"], "information_content": 100.0}
{"id": "orphanet:454840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NTHL1-related polyposis", "equivalent_identifiers": ["orphanet:454840"]}
{"id": "MONDO:0018682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital insensitivity to pain with severe intellectual disability", "equivalent_identifiers": ["MONDO:0018682", "orphanet:453510", "UMLS:C5679994", "SNOMEDCT:1237623009", "medgen:1814444"], "information_content": 100.0}
{"id": "HP:0012044", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seesaw nystagmus", "equivalent_identifiers": ["HP:0012044", "UMLS:C0344243", "SNOMEDCT:95782001"], "information_content": 100.0}
{"id": "MONDO:0015720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "moderately severe hemophilia A", "equivalent_identifiers": ["MONDO:0015720", "orphanet:169805", "UMLS:C0272323", "SNOMEDCT:33344008", "medgen:543974"], "information_content": 100.0}
{"id": "MONDO:0019077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "warty dyskeratoma", "equivalent_identifiers": ["MONDO:0019077", "orphanet:69745", "UMLS:C0334063", "MEDDRA:10068856", "NCIT:C4087", "SNOMEDCT:22524002", "SNOMEDCT:254676008", "medgen:137717", "icd11.foundation:1427186445"], "information_content": 100.0}
{"id": "HP:0025103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Umbilicated nodule", "equivalent_identifiers": ["HP:0025103", "UMLS:C4476593"], "information_content": 100.0}
{"id": "MONDO:0007625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal epithelial hyperplasia of the oral mucosa", "equivalent_identifiers": ["MONDO:0007625", "OMIM:136400", "UMLS:C1851009", "MESH:C565008", "medgen:340674", "HP:0410340"], "information_content": 100.0}
{"id": "MONDO:0019571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant cutis laxa", "equivalent_identifiers": ["MONDO:0019571", "DOID:0070142", "orphanet:90348", "UMLS:C0268350", "MESH:C562627", "SNOMEDCT:111388003", "medgen:120630", "icd11.foundation:720393698"], "information_content": 90.9}
{"id": "orphanet:465508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symptomatic form of HFE-related hemochromatosis", "equivalent_identifiers": ["orphanet:465508"]}
{"id": "MONDO:0019572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cutis laxa type 1", "equivalent_identifiers": ["MONDO:0019572", "DOID:0070144", "orphanet:90349", "UMLS:C0268351", "UMLS:C0432336", "UMLS:C2931134", "MESH:C536225", "SNOMEDCT:254222002", "medgen:78663"], "information_content": 90.9}
{"id": "HP:0011004", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal systemic arterial morphology", "equivalent_identifiers": ["HP:0011004", "UMLS:C0151489", "UMLS:C4021205", "MEDDRA:10002615", "MEDDRA:10003145", "MEDDRA:10003236", "SNOMEDCT:234119001"], "information_content": 59.9}
{"id": "MONDO:0015719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe hemophilia A", "equivalent_identifiers": ["MONDO:0015719", "orphanet:169802", "UMLS:C0272322", "SNOMEDCT:16872008", "medgen:543973"], "information_content": 100.0}
{"id": "MONDO:0017417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal-hepatic-pancreatic dysplasia", "equivalent_identifiers": ["MONDO:0017417", "DOID:0060259", "OMIM.PS:208540", "orphanet:294415", "UMLS:C2673883", "MESH:C567142", "SNOMEDCT:763891005", "medgen:382215"], "information_content": 92.8}
{"id": "HP:0005232", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancreatic dysplasia", "equivalent_identifiers": ["HP:0005232", "UMLS:C4019084"], "information_content": 100.0}
{"id": "HP:0033478", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased circulating lipoprotein lipase concentration", "equivalent_identifiers": ["HP:0033478", "UMLS:C5539628"], "information_content": 100.0}
{"id": "MONDO:0011048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy-microcephaly-skeletal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0011048", "OMIM:601352", "orphanet:1948", "UMLS:C1832437", "MESH:C563342", "medgen:330468"], "information_content": 100.0}
{"id": "MONDO:0016655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "6p22 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016655", "orphanet:251046", "UMLS:C4304528", "SNOMEDCT:719662000", "medgen:930197"], "information_content": 100.0}
{"id": "MONDO:0015069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroendocrine tumor of the anal canal", "equivalent_identifiers": ["MONDO:0015069", "orphanet:100082", "UMLS:C3272849", "NCIT:C96540", "medgen:474482", "icd11.foundation:1927831331"], "information_content": 92.8}
{"id": "MONDO:0015070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0015070", "DOID:5457", "orphanet:100083", "UMLS:C1334374", "NCIT:C6023", "SNOMEDCT:707625001", "medgen:232692", "icd11.foundation:1502591214"], "information_content": 86.3}
{"id": "HP:0003204", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intracellular accumulation of autofluorescent lipopigment storage material", "equivalent_identifiers": ["HP:0003204", "UMLS:C4025642"], "information_content": 89.4}
{"id": "MONDO:0015071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "middle ear neuroendocrine tumor", "equivalent_identifiers": ["MONDO:0015071", "orphanet:100084", "UMLS:C4305468", "SNOMEDCT:717918002", "medgen:931137", "icd11.foundation:1437498002"], "information_content": 95.4}
{"id": "HP:0040090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tympanic membrane morphology", "equivalent_identifiers": ["HP:0040090", "UMLS:C4022447"], "information_content": 85.5}
{"id": "MONDO:0015072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver neuroendocrine carcinoma", "equivalent_identifiers": ["MONDO:0015072", "orphanet:100085", "UMLS:C3273031", "NCIT:C96787", "SNOMEDCT:716652006", "medgen:474664"], "information_content": 92.8}
{"id": "MONDO:0002882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colon neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0002882", "DOID:4118", "orphanet:100080", "UMLS:C1333097", "NCIT:C5697", "SNOMEDCT:1162856006", "medgen:234162"], "information_content": 77.1}
{"id": "MONDO:0800453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile absence epilepsy", "equivalent_identifiers": ["MONDO:0800453", "DOID:0060172", "orphanet:1941", "UMLS:C4317339", "MEDDRA:10085031", "NCIT:C129868", "SNOMEDCT:230413002", "medgen:1388059", "icd11.foundation:519416529"], "information_content": 90.9}
{"id": "MONDO:0003646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectum neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0003646", "DOID:5777", "orphanet:100081", "UMLS:C1335686", "NCIT:C5698", "SNOMEDCT:1186811008", "medgen:277576"], "information_content": 82.1}
{"id": "MONDO:0015066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade", "equivalent_identifiers": ["MONDO:0015066", "orphanet:100079", "UMLS:C3272767", "NCIT:C96422", "SNOMEDCT:1287196009", "SNOMEDCT:725167001", "medgen:474400", "icd11.foundation:1590340268"], "information_content": 80.9}
{"id": "HP:0010676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mechanical ileus", "equivalent_identifiers": ["HP:0010676", "UMLS:C0400843", "MEDDRA:10051399", "SNOMEDCT:46420000"], "information_content": 95.4}
{"id": "HP:0030412", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ileal adenocarcinoma", "equivalent_identifiers": ["HP:0030412", "UMLS:C4072936"], "information_content": 100.0}
{"id": "HP:0031499", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Appendiceal mucinous neoplasm", "equivalent_identifiers": ["HP:0031499", "UMLS:C4531082", "MEDDRA:10090090", "SNOMEDCT:1269209000"], "information_content": 100.0}
{"id": "MONDO:0003111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0003111", "DOID:4715", "orphanet:100075", "UMLS:C1333783", "MEDDRA:10090772", "MEDDRA:10090774", "NCIT:C5696", "SNOMEDCT:721194008", "medgen:232548"], "information_content": 79.9}
{"id": "MONDO:0016019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rasmussen subacute encephalitis", "equivalent_identifiers": ["MONDO:0016019", "orphanet:1929", "UMLS:C0393484", "UMLS:C2930868", "MESH:C535291", "MEDDRA:10071141", "MEDDRA:10071144", "MEDDRA:10071145", "NCIT:C125384", "SNOMEDCT:230191005", "medgen:418934"], "information_content": 100.0}
{"id": "HP:0032665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Repeated focal motor seizures", "equivalent_identifiers": ["HP:0032665", "UMLS:C5397679"], "information_content": 100.0}
{"id": "HP:0011163", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal sensory seizure with somatosensory features", "equivalent_identifiers": ["HP:0011163", "UMLS:C0422850", "UMLS:C4023502", "SNOMEDCT:34601006"], "information_content": 92.8}
{"id": "HP:6000012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mediastinal shift", "equivalent_identifiers": ["HP:6000012", "NCIT:C50645", "UMLS:C0264576", "MEDDRA:10066239", "SNOMEDCT:19616004"], "information_content": 100.0}
{"id": "MONDO:0007696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Nelson syndrome", "equivalent_identifiers": ["MONDO:0007696", "OMIM:139750", "orphanet:1927", "UMLS:C1841693", "MESH:C535626", "medgen:333892"], "information_content": 100.0}
{"id": "MONDO:0015065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ileal neuroendocrine tumor, well differentiated, low or intermediate grade", "equivalent_identifiers": ["MONDO:0015065", "orphanet:100078", "UMLS:C4525628", "NCIT:C135092", "medgen:1611292"], "information_content": 85.5}
{"id": "MONDO:0016497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraparetic variant of Guillain-Barre syndrome", "equivalent_identifiers": ["MONDO:0016497", "orphanet:231445", "UMLS:C4707803", "SNOMEDCT:766722008", "medgen:1644763"], "information_content": 100.0}
{"id": "HP:0025459", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased CSF/serum albumin ratio", "equivalent_identifiers": ["HP:0025459", "UMLS:C4476791"], "information_content": 100.0}
{"id": "MONDO:0018588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALECT2 amyloidosis", "equivalent_identifiers": ["MONDO:0018588", "orphanet:439224", "UMLS:C5680047", "SNOMEDCT:1228881003", "medgen:1801621", "icd11.foundation:1363099940"], "information_content": 100.0}
{"id": "MONDO:0800127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary amyloidosis", "equivalent_identifiers": ["MONDO:0800127", "EFO:1001910", "UMLS:C0700376", "MEDDRA:10063945", "SNOMEDCT:196135008", "medgen:675153", "HP:0033247"], "information_content": 100.0}
{"id": "HP:0009617", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009617", "UMLS:C4021422"], "information_content": 77.3}
{"id": "MONDO:0018933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mazabraud syndrome", "equivalent_identifiers": ["MONDO:0018933", "orphanet:57782", "UMLS:C3697137", "MEDDRA:10081724", "SNOMEDCT:699251001", "medgen:784403", "icd11.foundation:1153435718"], "information_content": 100.0}
{"id": "MONDO:0015061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurogenic thoracic outlet syndrome", "equivalent_identifiers": ["MONDO:0015061", "orphanet:100073", "UMLS:C0751549", "SNOMEDCT:2040007", "medgen:155880"], "information_content": 100.0}
{"id": "MONDO:0800491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-infantile DEE", "equivalent_identifiers": ["MONDO:0800491", "DOID:0050709", "DOID:308", "orphanet:1934", "UMLS:C0270855", "NCIT:C116593", "SNOMEDCT:230429005", "SNOMEDCT:44423001", "icd11.foundation:1877241469"], "information_content": 90.9}
{"id": "HP:0011190", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uni- and bilateral multifocal epileptiform discharges", "equivalent_identifiers": ["HP:0011190", "UMLS:C4023484"], "information_content": 100.0}
{"id": "MONDO:0015059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive non-fluent aphasia", "equivalent_identifiers": ["MONDO:0015059", "DOID:0081390", "orphanet:100070", "UMLS:C0751706", "MESH:D057178", "NCIT:C85025", "SNOMEDCT:716281000", "medgen:148373"], "information_content": 92.8}
{"id": "MONDO:0005136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malaria", "equivalent_identifiers": ["MONDO:0005136", "DOID:12365", "orphanet:673", "EFO:0001068", "UMLS:C0024530", "MESH:D008288", "MEDDRA:10025487", "MEDDRA:10025489", "MEDDRA:10025497", "MEDDRA:10035499", "MEDDRA:10054147", "MEDDRA:10067345", "NCIT:C34797", "SNOMEDCT:105649009", "SNOMEDCT:248437004", "SNOMEDCT:61462000", "medgen:7443", "icd11.foundation:1439886552", "ICD10:B54", "ICD9:084"], "information_content": 84.8}
{"id": "HP:0009958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polydactyly affecting the 3rd finger", "equivalent_identifiers": ["HP:0009958", "UMLS:C4024144"], "information_content": 83.1}
{"id": "HP:0009971", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polydactyly affecting the 4th finger", "equivalent_identifiers": ["HP:0009971", "UMLS:C4024136"], "information_content": 83.1}
{"id": "HP:0030021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Auricular tag", "equivalent_identifiers": ["HP:0030021", "UMLS:C4022674"], "information_content": 100.0}
{"id": "MONDO:0016015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phenobarbital embryopathy", "equivalent_identifiers": ["MONDO:0016015", "orphanet:1919", "UMLS:C4275281", "SNOMEDCT:715431002", "medgen:895102", "icd11.foundation:1602901948"], "information_content": 100.0}
{"id": "HP:0012808", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasal base norphology", "equivalent_identifiers": ["HP:0012808", "UMLS:C4022718"], "information_content": 92.8}
{"id": "MONDO:0016014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal minoxidil syndrome", "equivalent_identifiers": ["MONDO:0016014", "orphanet:1918", "UMLS:C0432373", "SNOMEDCT:254251003", "medgen:96601", "icd11.foundation:4930572"], "information_content": 100.0}
{"id": "MONDO:0016013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal methylmercury syndrome", "equivalent_identifiers": ["MONDO:0016013", "orphanet:1917", "UMLS:C0265376", "UMLS:C0546127", "MESH:D020262", "SNOMEDCT:62110005", "medgen:82710", "icd11.foundation:1975519045"], "information_content": 100.0}
{"id": "MONDO:0016012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diethylstilbestrol syndrome", "equivalent_identifiers": ["MONDO:0016012", "orphanet:1916", "UMLS:C0853695", "MEDDRA:10012780", "NCIT:C113422", "SNOMEDCT:716005004", "medgen:799290", "icd11.foundation:1134098724"], "information_content": 100.0}
{"id": "MONDO:0017949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABeta amyloidosis, Arctic type", "equivalent_identifiers": ["MONDO:0017949", "orphanet:324723", "UMLS:C2751494", "medgen:414032"], "information_content": 100.0}
{"id": "MONDO:0018540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PFAPA syndrome", "equivalent_identifiers": ["MONDO:0018540", "DOID:0081451", "orphanet:42642", "UMLS:C4082167", "MEDDRA:10070594", "MEDDRA:10070596", "NCIT:C116917", "SNOMEDCT:717231003", "medgen:909507"], "information_content": 100.0}
{"id": "MONDO:0016653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2q33.1 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016653", "orphanet:251028", "UMLS:C4706258", "SNOMEDCT:763062006", "medgen:1645054"], "information_content": 100.0}
{"id": "MONDO:0017917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternally-inherited spastic paraplegia", "equivalent_identifiers": ["MONDO:0017917", "orphanet:320360", "UMLS:C4755299", "SNOMEDCT:778048001", "medgen:1663227"], "information_content": 100.0}
{"id": "MONDO:0016018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic embryopathy", "equivalent_identifiers": ["MONDO:0016018", "orphanet:1926", "UMLS:C3830518", "NCIT:C113485", "SNOMEDCT:716020005", "medgen:823266", "icd11.foundation:778367655"], "information_content": 95.4}
{"id": "MONDO:0016017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methimazole embryofetopathy", "equivalent_identifiers": ["MONDO:0016017", "orphanet:1923", "UMLS:C4510379", "SNOMEDCT:724144006", "medgen:1388574", "icd11.foundation:1204409156"], "information_content": 100.0}
{"id": "MONDO:0019019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta", "equivalent_identifiers": ["MONDO:0019019", "DOID:12347", "OMIM.PS:166200", "orphanet:666", "UMLS:C0029434", "MESH:D010013", "MEDDRA:10006371", "MEDDRA:10031243", "NCIT:C26837", "SNOMEDCT:78314001", "medgen:45246", "icd11.foundation:1219932551", "ICD9:756.51"], "information_content": 72.7}
{"id": "HP:0030267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcification of the interosseus membrane of the forearm", "equivalent_identifiers": ["HP:0030267", "UMLS:C4022549"], "information_content": 100.0}
{"id": "MONDO:0019159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeffler endocarditis", "equivalent_identifiers": ["MONDO:0019159", "DOID:396", "orphanet:75566", "UMLS:C0206143", "UMLS:C0264834", "MEDDRA:10014953", "MEDDRA:10052841", "NCIT:C27044", "SNOMEDCT:33258008", "SNOMEDCT:449829009", "medgen:104788", "icd11.foundation:1223390562", "ICD10:I42.3"], "information_content": 95.4}
{"id": "HP:0025523", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal morphology of the chordae tendinae of the mitral valve", "equivalent_identifiers": ["HP:0025523", "UMLS:C4476826"], "information_content": 89.4}
{"id": "HP:0031442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal tricuspid chordae tendinae morphology", "equivalent_identifiers": ["HP:0031442", "UMLS:C4531116"], "information_content": 95.4}
{"id": "MONDO:0019160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary progressive freezing gait", "equivalent_identifiers": ["MONDO:0019160", "orphanet:75567", "UMLS:C4275078", "SNOMEDCT:715627004", "medgen:894846", "icd11.foundation:431694225"], "information_content": 100.0}
{"id": "MONDO:0016016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toluene embryopathy", "equivalent_identifiers": ["MONDO:0016016", "orphanet:1920", "UMLS:C2931737", "MESH:C538114", "SNOMEDCT:254254006", "medgen:444131", "icd11.foundation:1446076607"], "information_content": 100.0}
{"id": "HP:0410256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infection associated neutropenia", "equivalent_identifiers": ["HP:0410256", "UMLS:C5139432"], "information_content": 100.0}
{"id": "MONDO:0019026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis", "equivalent_identifiers": ["MONDO:0019026", "OMIM.PS:259700", "orphanet:667", "UMLS:C1318518", "UMLS:C4272578", "NCIT:C129733", "SNOMEDCT:367489004", "medgen:1385510"], "information_content": 84.2}
{"id": "MONDO:0019158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tropical endomyocardial fibrosis", "equivalent_identifiers": ["MONDO:0019158", "orphanet:75565", "UMLS:C2882252", "SNOMEDCT:715626008", "medgen:909153"], "information_content": 100.0}
{"id": "HP:0033114", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quadruple gallop rhythm", "equivalent_identifiers": ["HP:0033114", "UMLS:C5421621"], "information_content": 100.0}
{"id": "HP:0031601", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "P pulmonale", "equivalent_identifiers": ["HP:0031601", "NCIT:C71041", "UMLS:C0232308", "MEDDRA:10064209", "SNOMEDCT:164914003"], "information_content": 100.0}
{"id": "MONDO:0015057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renin-angiotensin-aldosterone system-blocker-induced angioedema", "equivalent_identifiers": ["MONDO:0015057", "orphanet:100057", "UMLS:C1304495", "MESH:C535293", "SNOMEDCT:403607004", "medgen:725846"], "information_content": 95.4}
{"id": "HP:0040315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tongue edema", "equivalent_identifiers": ["HP:0040315", "UMLS:C0151610", "MEDDRA:10014257", "MEDDRA:10018382", "MEDDRA:10043955", "MEDDRA:10043967", "MEDDRA:10043986", "MEDDRA:10055404", "MEDDRA:10055939", "SNOMEDCT:81950002"], "information_content": 100.0}
{"id": "MONDO:0018672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related aortitis", "equivalent_identifiers": ["MONDO:0018672", "orphanet:449400", "UMLS:C5569008", "SNOMEDCT:1187508009", "medgen:1800431", "icd11.foundation:593151236"], "information_content": 100.0}
{"id": "MONDO:0016005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "indomethacin embryofetopathy", "equivalent_identifiers": ["MONDO:0016005", "orphanet:1909", "UMLS:C4275138", "SNOMEDCT:715430001", "medgen:903069", "icd11.foundation:1929563114"], "information_content": 100.0}
{"id": "MONDO:0017267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "self-healing collodion baby", "equivalent_identifiers": ["MONDO:0017267", "orphanet:281122", "UMLS:C1855789", "MESH:C565473", "SNOMEDCT:718632004", "medgen:383772", "icd11.foundation:34721911"], "information_content": 92.8}
{"id": "MONDO:0019016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternally-inherited progressive external ophthalmoplegia", "equivalent_identifiers": ["MONDO:0019016", "orphanet:663"], "information_content": 100.0}
{"id": "MONDO:0016004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aminopterin/methotrexate embryofetopathy", "equivalent_identifiers": ["MONDO:0016004", "orphanet:1908", "UMLS:C0432367", "MEDDRA:10071183", "MEDDRA:10071184", "NCIT:C98928", "SNOMEDCT:65986000", "medgen:98491"], "information_content": 100.0}
{"id": "MONDO:0017268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acral self-healing collodion baby", "equivalent_identifiers": ["MONDO:0017268", "orphanet:281127", "UMLS:C4305324", "SNOMEDCT:718633009", "medgen:930993", "icd11.foundation:897773833"], "information_content": 100.0}
{"id": "MONDO:0016090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-infantile/juvenile Krabbe disease", "equivalent_identifiers": ["MONDO:0016090", "orphanet:206443", "SNOMEDCT:41142009"], "information_content": 100.0}
{"id": "HP:0011425", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal ultrasound soft marker", "equivalent_identifiers": ["HP:0011425", "UMLS:C4023366"], "information_content": 80.6}
{"id": "MONDO:0012275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal valproate syndrome", "equivalent_identifiers": ["MONDO:0012275", "DOID:0060471", "OMIM:609442", "orphanet:1906", "UMLS:C0236026", "UMLS:C1876218", "MESH:C536525", "MEDDRA:10016524", "MEDDRA:10016870", "MEDDRA:10091151", "MEDDRA:10091152", "NCIT:C98930", "SNOMEDCT:17231009", "medgen:65922", "icd11.foundation:1055155432"], "information_content": 100.0}
{"id": "MONDO:0016841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "20p12.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016841", "orphanet:261295", "UMLS:C4304539", "SNOMEDCT:719650004", "medgen:930208"], "information_content": 100.0}
{"id": "MONDO:0017947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABeta amyloidosis, Italian type", "equivalent_identifiers": ["MONDO:0017947", "orphanet:324713", "UMLS:C3888308", "medgen:854854"], "information_content": 100.0}
{"id": "MONDO:0016840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 17p", "equivalent_identifiers": ["MONDO:0016840", "orphanet:261290", "UMLS:C0795865", "MESH:C538048", "SNOMEDCT:717049005", "medgen:167078"], "information_content": 100.0}
{"id": "MONDO:0019020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PANDAS", "equivalent_identifiers": ["MONDO:0019020", "orphanet:66624", "UMLS:C2931429", "MESH:C537163", "MEDDRA:10071571", "MEDDRA:10071582", "MEDDRA:10072147", "SNOMEDCT:446682003", "medgen:419798"], "information_content": 100.0}
{"id": "HP:0025253", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Claustrophobia", "equivalent_identifiers": ["HP:0025253", "NCIT:C85490", "UMLS:C0008909", "MEDDRA:10009244", "MEDDRA:10016277", "SNOMEDCT:19887002", "SNOMEDCT:247850006", "MESH:D000098452"], "information_content": 100.0}
{"id": "HP:0031468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Separation insecurity", "equivalent_identifiers": ["HP:0031468", "UMLS:C4531099"], "information_content": 100.0}
{"id": "HP:0031251", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal subclavian artery morphology", "equivalent_identifiers": ["HP:0031251", "UMLS:C4531248"], "information_content": 87.2}
{"id": "HP:0008515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the vertebrae", "equivalent_identifiers": ["HP:0008515", "UMLS:C4024662"], "information_content": 79.3}
{"id": "MONDO:0016652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2q31.1 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016652", "orphanet:251014", "UMLS:C4274647", "SNOMEDCT:716387004", "medgen:899856"], "information_content": 100.0}
{"id": "MONDO:0024686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tenosynovial giant cell tumor, diffuse type", "equivalent_identifiers": ["MONDO:0024686", "DOID:2702", "DOID:9898", "orphanet:66627", "EFO:1001106", "UMLS:C0039106", "UMLS:C0158168", "MESH:D013586", "MEDDRA:10042875", "MEDDRA:10047413", "MEDDRA:10047423", "MEDDRA:10084212", "NCIT:C3401", "SNOMEDCT:1295265008", "SNOMEDCT:703703002", "SNOMEDCT:95412009", "medgen:11691", "ICD10:M12.2", "ICD10:M12.20", "ICD9:719.2"], "information_content": 100.0}
{"id": "MONDO:0016011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal alcohol syndrome", "equivalent_identifiers": ["MONDO:0016011", "DOID:0050665", "DOID:0050667", "orphanet:1915", "UMLS:C0015923", "MEDDRA:10016475", "MEDDRA:10016845", "NCIT:C84713", "SNOMEDCT:205788004", "medgen:8820", "icd11.foundation:362980699", "ICD10:Q86.0"], "information_content": 100.0}
{"id": "MONDO:0031421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olmsted syndrome", "equivalent_identifiers": ["MONDO:0031421", "DOID:0112011", "OMIM.PS:614594", "orphanet:659", "UMLS:C0406761", "MEDDRA:10068842", "SNOMEDCT:239072003", "medgen:590661"], "information_content": 90.9}
{"id": "MONDO:0016091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult Krabbe disease", "equivalent_identifiers": ["MONDO:0016091", "orphanet:206448", "UMLS:C0268252", "medgen:120623", "icd11.foundation:699668826"], "information_content": 100.0}
{"id": "MONDO:0016010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin K-antagonist embryofetopathy", "equivalent_identifiers": ["MONDO:0016010", "orphanet:1914", "UMLS:C0265374", "MESH:C536683", "MEDDRA:10051445", "MEDDRA:10054728", "NCIT:C98906", "SNOMEDCT:38323006", "medgen:75570", "icd11.foundation:71579696"], "information_content": 100.0}
{"id": "MONDO:0015053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary angioedema type 1", "equivalent_identifiers": ["MONDO:0015053", "orphanet:100050", "UMLS:C0398775", "UMLS:C2717906", "MEDDRA:10080956", "SNOMEDCT:234619000", "medgen:403466"], "information_content": 100.0}
{"id": "HP:0025349", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Limbal edema", "equivalent_identifiers": ["HP:0025349", "UMLS:C4476719"], "information_content": 100.0}
{"id": "HP:0100755", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of salivation", "equivalent_identifiers": ["HP:0100755", "UMLS:C4021978"], "information_content": 87.2}
{"id": "HP:0000172", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal uvula morphology", "equivalent_identifiers": ["HP:0000172", "UMLS:C4025885"], "information_content": 84.8}
{"id": "MONDO:0016009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal trimethadione syndrome", "equivalent_identifiers": ["MONDO:0016009", "orphanet:1913", "UMLS:C0265373", "MESH:C537798", "SNOMEDCT:66351003", "medgen:120538", "icd11.foundation:1743242235"], "information_content": 95.4}
{"id": "MONDO:0016008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal hydantoin syndrome", "equivalent_identifiers": ["MONDO:0016008", "orphanet:1912", "UMLS:C0265372", "MESH:C537922", "MEDDRA:10016508", "MEDDRA:10016522", "MEDDRA:10016861", "MEDDRA:10016867", "NCIT:C98927", "SNOMEDCT:70065001", "medgen:75569", "icd11.foundation:1894344911"], "information_content": 100.0}
{"id": "MONDO:0016007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cocaine embryofetopathy", "equivalent_identifiers": ["MONDO:0016007", "orphanet:1911", "UMLS:C0432371", "SNOMEDCT:254250002", "medgen:140937", "icd11.foundation:1604796846"], "information_content": 100.0}
{"id": "HP:0100657", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Celosomus", "equivalent_identifiers": ["HP:0100657", "UMLS:C0266682", "SNOMEDCT:44518003"], "information_content": 100.0}
{"id": "HP:0031105", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal uterus morphology", "equivalent_identifiers": ["HP:0031105", "UMLS:C4476974"], "information_content": 68.1}
{"id": "MONDO:0019006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial idiopathic steroid-resistant nephrotic syndrome", "equivalent_identifiers": ["MONDO:0019006", "orphanet:656", "UMLS:C4273714", "SNOMEDCT:718141008", "medgen:902527", "icd11.foundation:1385860879"], "information_content": 82.1}
{"id": "HP:0031504", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foamy urine", "equivalent_identifiers": ["HP:0031504", "UMLS:C4523940", "MEDDRA:10079754"], "information_content": 100.0}
{"id": "MONDO:0017945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABetaL34V amyloidosis", "equivalent_identifiers": ["MONDO:0017945", "orphanet:324703", "UMLS:C5679882", "medgen:1842835"], "information_content": 100.0}
{"id": "MONDO:0017946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABeta amyloidosis, Iowa type", "equivalent_identifiers": ["MONDO:0017946", "orphanet:324708", "UMLS:C3888309", "medgen:854855"], "information_content": 100.0}
{"id": "MONDO:0016651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 1", "equivalent_identifiers": ["MONDO:0016651", "orphanet:251009", "UMLS:C4749302", "SNOMEDCT:770562000", "medgen:1665577", "icd11.foundation:351448323"], "information_content": 100.0}
{"id": "HP:3000019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal buccal mucosa morphology", "equivalent_identifiers": ["HP:3000019", "UMLS:C4073228"], "information_content": 92.8}
{"id": "MONDO:0016650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paternal uniparental disomy of chromosome 1", "equivalent_identifiers": ["MONDO:0016650", "orphanet:251004", "UMLS:C4707800", "SNOMEDCT:766719006", "medgen:1636519", "icd11.foundation:1239235576"], "information_content": 100.0}
{"id": "HP:0030612", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal retinal morphology on macular OCT", "equivalent_identifiers": ["HP:0030612", "UMLS:C4073082"], "information_content": 79.3}
{"id": "HP:0025513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scleral rupture", "equivalent_identifiers": ["HP:0025513", "UMLS:C0339200", "SNOMEDCT:231881006"], "information_content": 100.0}
{"id": "MONDO:0019799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatoerythropoietic porphyria", "equivalent_identifiers": ["MONDO:0019799", "DOID:5230", "orphanet:95159", "UMLS:C0162569", "MESH:D017121", "NCIT:C84754", "SNOMEDCT:111386004", "medgen:57940", "icd11.foundation:214080046"], "information_content": 88.2}
{"id": "HP:0032999", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased fecal porphyrin", "equivalent_identifiers": ["HP:0032999", "UMLS:C5397990"], "information_content": 87.2}
{"id": "HP:0500046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seborrhoeic blepharitis", "equivalent_identifiers": ["HP:0500046", "UMLS:C0149842", "SNOMEDCT:231797007"], "information_content": 100.0}
{"id": "HP:0040322", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Purple urine", "equivalent_identifiers": ["HP:0040322", "UMLS:C4477047"], "information_content": 100.0}
{"id": "HP:0004875", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal inspiratory stridor", "equivalent_identifiers": ["HP:0004875", "UMLS:C4025281"], "information_content": 100.0}
{"id": "HP:0012892", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial muscle hypertrophy", "equivalent_identifiers": ["HP:0012892", "UMLS:C4022691", "UMLS:C4280307"], "information_content": 100.0}
{"id": "HP:0012900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotonia of the face", "equivalent_identifiers": ["HP:0012900", "UMLS:C4022686"], "information_content": 100.0}
{"id": "HP:0012904", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cold-sensitive myotonia", "equivalent_identifiers": ["HP:0012904", "UMLS:C4022682"], "information_content": 100.0}
{"id": "MONDO:0019037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive supranuclear palsy", "equivalent_identifiers": ["MONDO:0019037", "DOID:678", "OMIM.PS:601104", "orphanet:683", "UMLS:C0038868", "MESH:D013494", "MEDDRA:10036813", "MEDDRA:10054970", "NCIT:C85028", "SNOMEDCT:192976002", "medgen:21026", "icd11.foundation:1493396558", "ICD10:G23.1"], "information_content": 85.5}
{"id": "HP:0012535", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal synaptic transmission", "equivalent_identifiers": ["HP:0012535", "UMLS:C4021083"], "information_content": 71.9}
{"id": "MONDO:0018528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy with myasthenic-like onset", "equivalent_identifiers": ["MONDO:0018528", "orphanet:424107", "UMLS:C4706390", "SNOMEDCT:763315005", "medgen:1642781"], "information_content": 100.0}
{"id": "MONDO:0008223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemic periodic paralysis", "equivalent_identifiers": ["MONDO:0008223", "DOID:14452", "orphanet:681", "UMLS:C0238358", "MESH:D020514", "MEDDRA:10075234", "MEDDRA:10075238", "NCIT:C84775", "SNOMEDCT:82732003", "medgen:116058", "icd11.foundation:1494773635"], "information_content": 92.8}
{"id": "MONDO:0013996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal facial dermal dysplasia type II", "equivalent_identifiers": ["MONDO:0013996", "OMIM:614973", "orphanet:398173", "UMLS:C3554245", "SNOMEDCT:789159005", "medgen:767159"], "information_content": 100.0}
{"id": "MONDO:0015044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mu-heavy chain disease", "equivalent_identifiers": ["MONDO:0015044", "DOID:0060128", "orphanet:100024", "UMLS:C0242310", "NCIT:C3892", "SNOMEDCT:61493004", "medgen:66875", "icd11.foundation:963887455"], "information_content": 100.0}
{"id": "HP:0030156", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bence Jones Proteinuria", "equivalent_identifiers": ["HP:0030156", "UMLS:C0004968", "MEDDRA:10004231", "SNOMEDCT:274771005"], "information_content": 92.8}
{"id": "MONDO:0015045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-heavy chain disease", "equivalent_identifiers": ["MONDO:0015045", "DOID:0060126", "orphanet:100025", "EFO:1001798", "UMLS:C0021071", "UMLS:C5209276", "MESH:D007161", "MEDDRA:10089864", "MEDDRA:10089868", "NCIT:C3132", "SNOMEDCT:109982002", "SNOMEDCT:109985000", "SNOMEDCT:123313007", "SNOMEDCT:27461004", "medgen:7039", "icd11.foundation:680227490", "ICD10:C88.3", "HP:0020194"], "information_content": 100.0}
{"id": "MONDO:0015046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gamma-heavy chain disease", "equivalent_identifiers": ["MONDO:0015046", "DOID:0060127", "orphanet:100026", "UMLS:C0018854", "UMLS:C5209277", "MEDDRA:10089861", "MEDDRA:10089866", "NCIT:C3083", "SNOMEDCT:109984001", "medgen:42374", "icd11.foundation:705015637", "HP:0020195"], "information_content": 100.0}
{"id": "MONDO:0018674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related submandibular gland disease", "equivalent_identifiers": ["MONDO:0018674", "orphanet:449432", "UMLS:C2826557", "UMLS:C5679995", "MEDDRA:10089280", "NCIT:C82887", "SNOMEDCT:1264005000", "SNOMEDCT:448131008", "medgen:1830092", "icd11.foundation:588811750"], "information_content": 100.0}
{"id": "MONDO:0019024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mast cell sarcoma", "equivalent_identifiers": ["MONDO:0019024", "DOID:355", "orphanet:66661", "EFO:1000364", "UMLS:C0036221", "MESH:D012515", "MEDDRA:10025638", "NCIT:C9348", "SNOMEDCT:118615008", "SNOMEDCT:13583002", "SNOMEDCT:397010005", "medgen:11322", "icd11.foundation:1993363632", "icd11.foundation:233404891", "ICD10:C96.22", "ICD9:202.6"], "information_content": 100.0}
{"id": "HP:0011552", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ambiguous atrioventricular connection", "equivalent_identifiers": ["HP:0011552", "UMLS:C0344617", "SNOMEDCT:253278008"], "information_content": 100.0}
{"id": "HP:0011621", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gerbode ventricular septal defect", "equivalent_identifiers": ["HP:0011621", "UMLS:C0265812", "UMLS:C4023265", "SNOMEDCT:41893002"], "information_content": 100.0}
{"id": "HP:0011667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral superior vena cava with bridging vein", "equivalent_identifiers": ["HP:0011667", "UMLS:C4023240"], "information_content": 100.0}
{"id": "MONDO:0006687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "burning mouth syndrome", "equivalent_identifiers": ["MONDO:0006687", "DOID:4331", "orphanet:353253", "EFO:1000850", "UMLS:C0006430", "MESH:D002054", "MEDDRA:10050820", "MEDDRA:10054520", "MEDDRA:10068065", "NCIT:C62545", "SNOMEDCT:399165002", "medgen:14254", "icd11.foundation:618998878"], "information_content": 95.4}
{"id": "HP:0032143", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Burning mouth", "equivalent_identifiers": ["HP:0032143", "UMLS:C0877717", "MEDDRA:10006782", "MEDDRA:10049858", "SNOMEDCT:1202021001"], "information_content": 100.0}
{"id": "MONDO:0043237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glossodynia", "equivalent_identifiers": ["MONDO:0043237", "UMLS:C0017672", "MESH:D005926", "MEDDRA:10018388", "MEDDRA:10033496", "MEDDRA:10041369", "MEDDRA:10043969", "MEDDRA:10043980", "SNOMEDCT:30731004", "medgen:6617", "icd11.foundation:1755751917", "HP:0030811"], "information_content": 100.0}
{"id": "MONDO:0018964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homocystinuria without methylmalonic aciduria", "equivalent_identifiers": ["MONDO:0018964", "OMIM.PS:236270", "orphanet:622", "UMLS:C4303479", "SNOMEDCT:721225009", "medgen:929148", "icd11.foundation:726186034"], "information_content": 89.4}
{"id": "MONDO:0004064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iris melanoma", "equivalent_identifiers": ["MONDO:0004064", "DOID:6994", "UMLS:C0346373", "MEDDRA:10073086", "NCIT:C9088", "SNOMEDCT:255012009", "medgen:87559", "HP:0011524"], "information_content": 86.3}
{"id": "MONDO:0003912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant ciliary body melanoma", "equivalent_identifiers": ["MONDO:0003912", "DOID:6524", "UMLS:C0346379", "MEDDRA:10081428", "NCIT:C4558", "SNOMEDCT:255015006", "medgen:138062", "HP:0012055"], "information_content": 87.2}
{"id": "HP:0030800", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal visual accommodation", "equivalent_identifiers": ["HP:0030800", "UMLS:C4280760"], "information_content": 95.4}
{"id": "MONDO:0018963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary methemoglobinemia", "equivalent_identifiers": ["MONDO:0018963", "orphanet:621", "UMLS:C0272087", "MESH:C580280", "MEDDRA:10010543", "MEDDRA:10062832", "NCIT:C98898", "SNOMEDCT:267550008", "medgen:473013", "icd11.foundation:586921197"], "information_content": 88.2}
{"id": "HP:0025118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lip discoloration", "equivalent_identifiers": ["HP:0025118", "UMLS:C0854373", "MEDDRA:10024548", "MEDDRA:10024549", "MEDDRA:10055531", "MEDDRA:10055532"], "information_content": 95.4}
{"id": "MONDO:0016838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "16q24.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016838", "orphanet:261250", "UMLS:C4304594", "SNOMEDCT:719580004", "medgen:930263"], "information_content": 100.0}
{"id": "MONDO:0011082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculoauriculofrontonasal syndrome", "equivalent_identifiers": ["MONDO:0011082", "OMIM:601452", "orphanet:398156", "UMLS:C1832352", "MESH:C537865", "SNOMEDCT:782783009", "medgen:316969"], "information_content": 100.0}
{"id": "MONDO:0018961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial melanoma", "equivalent_identifiers": ["MONDO:0018961", "DOID:6846", "orphanet:618", "UMLS:C1512419", "NCIT:C8498", "medgen:268851"], "information_content": 89.4}
{"id": "MONDO:0009710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thomsen and Becker disease", "equivalent_identifiers": ["MONDO:0009710", "DOID:2106", "orphanet:614", "MESH:D009224", "NCIT:C84912", "SNOMEDCT:726051002", "ICD9:359.22"], "information_content": 92.8}
{"id": "MONDO:0018960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital primary megaureter", "equivalent_identifiers": ["MONDO:0018960", "orphanet:617", "UMLS:C4273898", "SNOMEDCT:717459000", "medgen:903364", "icd11.foundation:566805920"], "information_content": 88.2}
{"id": "MONDO:0008029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bethlem myopathy", "equivalent_identifiers": ["MONDO:0008029", "DOID:0050663", "OMIM.PS:158810", "orphanet:610", "UMLS:C1834674", "MESH:C535436", "NCIT:C126688", "SNOMEDCT:718572004", "medgen:331805", "icd11.foundation:72734329"], "information_content": 89.4}
{"id": "HP:0010176", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curved toe phalanx", "equivalent_identifiers": ["HP:0010176", "UMLS:C4021330", "SNOMEDCT:897264009"], "information_content": 79.3}
{"id": "HP:0012497", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced maximal expiratory pressure", "equivalent_identifiers": ["HP:0012497", "UMLS:C4022879"], "information_content": 100.0}
{"id": "MONDO:0018999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LCAT deficiency", "equivalent_identifiers": ["MONDO:0018999", "orphanet:650", "UMLS:C5779633", "SNOMEDCT:49227001", "medgen:1830326"], "information_content": 92.8}
{"id": "orphanet:653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple endocrine neoplasia type 2", "equivalent_identifiers": ["orphanet:653"]}
{"id": "HP:0032241", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cervical neoplasm", "equivalent_identifiers": ["HP:0032241"], "information_content": 90.9}
{"id": "HP:0025151", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ganglioneuromatosis", "equivalent_identifiers": ["HP:0025151", "NCIT:C66804", "UMLS:C0334595", "SNOMEDCT:12060004"], "information_content": 100.0}
{"id": "MONDO:0002173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroma", "equivalent_identifiers": ["MONDO:0002173", "DOID:2001", "EFO:0009619", "UMLS:C0027858", "UMLS:C0273482", "MESH:D009463", "MEDDRA:10011422", "MEDDRA:10029174", "MEDDRA:10029308", "MEDDRA:10029310", "MEDDRA:10029312", "MEDDRA:10078251", "NCIT:C3275", "SNOMEDCT:1163436007", "SNOMEDCT:25169009", "SNOMEDCT:274089002", "SNOMEDCT:443892003", "SNOMEDCT:84116009", "medgen:14352", "HP:0030430"], "information_content": 87.2}
{"id": "orphanet:652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple endocrine neoplasia type 1", "equivalent_identifiers": ["orphanet:652"]}
{"id": "MONDO:0015104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porphyria cutanea tarda", "equivalent_identifiers": ["MONDO:0015104", "DOID:3132", "orphanet:101330", "UMLS:C0162566", "MESH:D017119", "MEDDRA:10011665", "MEDDRA:10036183", "NCIT:C27725", "SNOMEDCT:61860000", "medgen:56453", "icd11.foundation:370983230", "ICD10:E80.1"], "information_content": 87.2}
{"id": "HP:0033197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic lobular inflammation", "equivalent_identifiers": ["HP:0033197", "UMLS:C5421676"], "information_content": 100.0}
{"id": "MONDO:0016837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "16p13.11 microduplication syndrome", "equivalent_identifiers": ["MONDO:0016837", "orphanet:261243", "UMLS:C4304595", "SNOMEDCT:719578005", "medgen:930264"], "information_content": 100.0}
{"id": "MONDO:0015033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABeta amyloidosis, dutch type", "equivalent_identifiers": ["MONDO:0015033", "orphanet:100006", "UMLS:C2931672", "SNOMEDCT:56453003", "medgen:419468"], "information_content": 100.0}
{"id": "MONDO:0019022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensorineural hearing loss-early graying-essential tremor syndrome", "equivalent_identifiers": ["MONDO:0019022", "orphanet:66633", "UMLS:C4510044", "SNOMEDCT:723721007", "medgen:1389497"], "information_content": 100.0}
{"id": "MONDO:0018362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent idiopathic facial pain", "equivalent_identifiers": ["MONDO:0018362", "orphanet:398147", "UMLS:C5191641", "SNOMEDCT:785723001", "medgen:1673850", "icd11.foundation:1799118131"], "information_content": 100.0}
{"id": "MONDO:0018997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome", "equivalent_identifiers": ["MONDO:0018997", "DOID:3490", "OMIM.PS:163950", "orphanet:648", "UMLS:C0028326", "MESH:D009634", "MEDDRA:10029748", "NCIT:C34854", "SNOMEDCT:205684007", "SNOMEDCT:205824006", "medgen:18073", "icd11.foundation:1044395354"], "information_content": 81.7}
{"id": "MONDO:0016089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile Krabbe disease", "equivalent_identifiers": ["MONDO:0016089", "orphanet:206436", "UMLS:C0751273", "SNOMEDCT:238030005", "medgen:148270", "icd11.foundation:999546344"], "information_content": 100.0}
{"id": "HP:0031161", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced brain glutamate level by MRS", "equivalent_identifiers": ["HP:0031161", "UMLS:C4477012"], "information_content": 100.0}
{"id": "HP:0011444", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decorticate rigidity", "equivalent_identifiers": ["HP:0011444", "UMLS:C0231521", "SNOMEDCT:36423000"], "information_content": 100.0}
{"id": "MONDO:0024296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vascular neoplasm", "equivalent_identifiers": ["MONDO:0024296", "UMLS:C0027668", "UMLS:C0282607", "MESH:D019043", "MEDDRA:10055031", "MEDDRA:10057189", "NCIT:C7388", "SNOMEDCT:115235003", "SNOMEDCT:126736007", "SNOMEDCT:699605009", "medgen:129202", "HP:0100742"], "information_content": 61.9}
{"id": "MONDO:0018982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Niemann-Pick disease type C", "equivalent_identifiers": ["MONDO:0018982", "orphanet:646", "UMLS:C0220756", "MESH:D052556", "NCIT:C85214", "SNOMEDCT:66751000", "medgen:67399", "icd11.foundation:812702125"], "information_content": 86.3}
{"id": "MONDO:0019179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosomy 9q22.3", "equivalent_identifiers": ["MONDO:0019179", "orphanet:77301", "UMLS:C3711390", "MESH:C579873", "SNOMEDCT:724098008", "medgen:777998"], "information_content": 100.0}
{"id": "MONDO:0019178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome", "equivalent_identifiers": ["MONDO:0019178", "orphanet:77300", "UMLS:C4518478", "SNOMEDCT:725149008", "medgen:1378358"], "information_content": 100.0}
{"id": "HP:0003091", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trophic limb changes", "equivalent_identifiers": ["HP:0003091", "UMLS:C4025657"], "information_content": 100.0}
{"id": "HP:0100491", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of lower limb joint", "equivalent_identifiers": ["HP:0100491", "UMLS:C4020971"], "information_content": 64.5}
{"id": "MONDO:0018979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multifocal motor neuropathy", "equivalent_identifiers": ["MONDO:0018979", "orphanet:641", "UMLS:C0393847", "MEDDRA:10065579", "SNOMEDCT:230591002", "medgen:581615"], "information_content": 100.0}
{"id": "MONDO:0016836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "16p13.11 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016836", "orphanet:261236", "UMLS:C4304596", "SNOMEDCT:719577000", "medgen:930265"], "information_content": 100.0}
{"id": "MONDO:0011795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anonychia-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0011795", "OMIM:607214", "orphanet:1094", "UMLS:C1846617", "UMLS:C2931373", "MESH:C536948", "MESH:C564606", "SNOMEDCT:720494009", "medgen:339565"], "information_content": 100.0}
{"id": "MONDO:0017711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic colipase deficiency", "equivalent_identifiers": ["MONDO:0017711", "orphanet:309108", "UMLS:C0268241", "SNOMEDCT:69478001", "medgen:452357", "icd11.foundation:11281354"], "information_content": 100.0}
{"id": "orphanet:637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Full NF2-related schwannomatosis", "equivalent_identifiers": ["orphanet:637"]}
{"id": "MONDO:0850302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial meningioma", "equivalent_identifiers": ["MONDO:0850302", "DOID:0060106", "DOID:0080842", "UMLS:C0349604", "NCIT:C4656", "SNOMEDCT:302820008", "medgen:83891", "HP:0100009"], "information_content": 74.3}
{"id": "MONDO:0001275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal meningioma", "equivalent_identifiers": ["MONDO:0001275", "DOID:1138", "UMLS:C0347515", "MEDDRA:10067793", "NCIT:C6935", "SNOMEDCT:189167009", "medgen:87576", "HP:0100010"], "information_content": 100.0}
{"id": "orphanet:636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurofibromatosis type 1", "equivalent_identifiers": ["orphanet:636"]}
{"id": "orphanet:638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurofibromatosis-Noonan syndrome", "equivalent_identifiers": ["orphanet:638"]}
{"id": "MONDO:0018673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related pachymeningitis", "equivalent_identifiers": ["MONDO:0018673", "orphanet:449427", "UMLS:C4545992", "SNOMEDCT:762282007", "medgen:1627405", "icd11.foundation:1140264879"], "information_content": 100.0}
{"id": "HP:0010652", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal dura mater morphology", "equivalent_identifiers": ["HP:0010652", "UMLS:C4023757"], "information_content": 89.4}
{"id": "HP:0009744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal spinal dura mater morphology", "equivalent_identifiers": ["HP:0009744", "UMLS:C4024214"], "information_content": 100.0}
{"id": "HP:3000035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of cervical plexus", "equivalent_identifiers": ["HP:3000035", "UMLS:C4073243"], "information_content": 92.8}
{"id": "HP:0025553", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Periorbital ecchymosis with tarsal plate sparing", "equivalent_identifiers": ["HP:0025553", "UMLS:C4531294", "MEDDRA:10071703", "MEDDRA:10083901", "SNOMEDCT:1156411007"], "information_content": 100.0}
{"id": "MONDO:0016835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "14q11.2 microduplication syndrome", "equivalent_identifiers": ["MONDO:0016835", "orphanet:261229", "UMLS:C4749855", "SNOMEDCT:771341006", "medgen:1657429"], "information_content": 100.0}
{"id": "MONDO:0017360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin B12-unresponsive methylmalonic acidemia type mut0", "equivalent_identifiers": ["MONDO:0017360", "orphanet:289916", "UMLS:C0342718", "SNOMEDCT:237945003", "medgen:575191"], "information_content": 100.0}
{"id": "MONDO:0017286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tempi syndrome", "equivalent_identifiers": ["MONDO:0017286", "orphanet:284227", "UMLS:C3854394", "MEDDRA:10075076", "NCIT:C121656", "SNOMEDCT:718614004", "medgen:886502"], "information_content": 100.0}
{"id": "HP:0011920", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hydrothorax", "equivalent_identifiers": ["HP:0011920", "NCIT:C116338", "UMLS:C0020312", "MEDDRA:10048612", "SNOMEDCT:79231000", "MESH:D006876"], "information_content": 100.0}
{"id": "MONDO:0019095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plague", "equivalent_identifiers": ["MONDO:0019095", "DOID:3482", "orphanet:707", "EFO:0009425", "UMLS:C0032064", "MESH:D010930", "MEDDRA:10035148", "MEDDRA:10035149", "MEDDRA:10046098", "MEDDRA:10048250", "NCIT:C85015", "SNOMEDCT:58750007", "medgen:10785", "icd11.foundation:1596449540", "ICD10:A20", "ICD9:020"], "information_content": 90.9}
{"id": "MONDO:0002237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carbuncle", "equivalent_identifiers": ["MONDO:0002237", "DOID:2176", "EFO:1000674", "UMLS:C0007078", "UMLS:C0007079", "MESH:D002270", "MEDDRA:10007247", "SNOMEDCT:41570003", "SNOMEDCT:416893007", "medgen:2866", "icd11.foundation:1456834066", "ICD9:680.9", "HP:0020084"], "information_content": 100.0}
{"id": "MONDO:0019082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pemphigoid", "equivalent_identifiers": ["MONDO:0019082", "DOID:8506", "orphanet:703", "EFO:0007187", "UMLS:C0030805", "MESH:D010391", "MEDDRA:10006567", "MEDDRA:10006568", "MEDDRA:10034277", "NCIT:C34908", "NCIT:C84389", "SNOMEDCT:77090002", "medgen:10620", "icd11.foundation:233308710", "ICD10:L12.0", "ICD9:694.5"], "information_content": 89.4}
{"id": "HP:4000019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-BP230 antibody positivity", "equivalent_identifiers": ["HP:4000019", "UMLS:C5539869"], "information_content": 100.0}
{"id": "HP:4000020", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-BP180 antibody positivity", "equivalent_identifiers": ["HP:4000020", "UMLS:C5539892"], "information_content": 100.0}
{"id": "MONDO:0019679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A7", "equivalent_identifiers": ["MONDO:0019679", "orphanet:93397", "UMLS:C4303991", "SNOMEDCT:720571006", "medgen:929660", "icd11.foundation:1487696553"], "information_content": 100.0}
{"id": "HP:0010348", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad phalanges of the 2nd toe", "equivalent_identifiers": ["HP:0010348", "UMLS:C4023889"], "information_content": 90.9}
{"id": "MONDO:0017385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant migrating partial seizures of infancy", "equivalent_identifiers": ["MONDO:0017385", "orphanet:293181", "UMLS:C3494976", "NCIT:C125387", "SNOMEDCT:784345005", "medgen:782160"], "information_content": 90.9}
{"id": "HP:4000013", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-desmoglein-1 antibody positivity", "equivalent_identifiers": ["HP:4000013", "UMLS:C5539863"], "information_content": 100.0}
{"id": "HP:4000014", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-desmoglein-3 antibody positivity", "equivalent_identifiers": ["HP:4000014", "UMLS:C5539864"], "information_content": 100.0}
{"id": "MONDO:0019681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile sialidosis type 2", "equivalent_identifiers": ["MONDO:0019681", "orphanet:93399", "UMLS:C0268229", "UMLS:C5681598", "SNOMEDCT:111383007", "medgen:1825999", "icd11.foundation:1730484030"], "information_content": 100.0}
{"id": "HP:0006239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shortening of all middle phalanges of the toes", "equivalent_identifiers": ["HP:0006239", "UMLS:C4021605"], "information_content": 100.0}
{"id": "MONDO:0010323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atkin syndrome", "equivalent_identifiers": ["MONDO:0010323", "OMIM:300431", "orphanet:1193", "UMLS:C0796206", "MESH:C538195", "SNOMEDCT:718577005", "medgen:163230"], "information_content": 100.0}
{"id": "MONDO:0017189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia", "equivalent_identifiers": ["MONDO:0017189", "orphanet:276608", "UMLS:C4274082", "SNOMEDCT:717044000", "medgen:907576"], "information_content": 100.0}
{"id": "MONDO:0019196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Foix-Alajouanine syndrome", "equivalent_identifiers": ["MONDO:0019196", "orphanet:79093", "UMLS:C0472347", "MEDDRA:10086135", "MEDDRA:10086136", "SNOMEDCT:230379007", "medgen:141629", "icd11.foundation:937824238"], "information_content": 100.0}
{"id": "HP:0012423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Colonic inertia", "equivalent_identifiers": ["HP:0012423", "UMLS:C1257861"], "information_content": 100.0}
{"id": "HP:0010900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating threonine concentration", "equivalent_identifiers": ["HP:0010900", "UMLS:C4023666"], "information_content": 88.2}
{"id": "HP:0010909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating arginine concentration", "equivalent_identifiers": ["HP:0010909", "UMLS:C4023659"], "information_content": 88.2}
{"id": "HP:0010917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating tyrosine concentration", "equivalent_identifiers": ["HP:0010917", "UMLS:C4023653", "UMLS:C5139049"], "information_content": 85.5}
{"id": "MONDO:0019197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "folinic acid-responsive seizures", "equivalent_identifiers": ["MONDO:0019197", "orphanet:79097", "UMLS:C4273952", "SNOMEDCT:717276003", "medgen:908191", "icd11.foundation:723504178"], "information_content": 100.0}
{"id": "MONDO:0019198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sympathetic ophthalmia", "equivalent_identifiers": ["MONDO:0019198", "DOID:12029", "orphanet:79098", "EFO:1001205", "UMLS:C0029077", "MESH:D009879", "MEDDRA:10042742", "MEDDRA:10042743", "MEDDRA:10042745", "SNOMEDCT:75315001", "medgen:45203", "icd11.foundation:1639718137", "ICD10:H44.13", "ICD9:360.11"], "information_content": 100.0}
{"id": "HP:0025560", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior chamber cells", "equivalent_identifiers": ["HP:0025560", "UMLS:C0423282", "MEDDRA:10053781", "SNOMEDCT:246993000"], "information_content": 87.2}
{"id": "HP:6000710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dalen Fuchs nodules", "equivalent_identifiers": ["HP:6000710", "UMLS:C0333412", "SNOMEDCT:21046000"], "information_content": 100.0}
{"id": "MONDO:0019677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type E", "equivalent_identifiers": ["MONDO:0019677", "orphanet:93387", "UMLS:C4315392", "medgen:939359", "icd11.foundation:712007423"], "information_content": 90.9}
{"id": "HP:0010076", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the distal phalanx of the hallux", "equivalent_identifiers": ["HP:0010076", "UMLS:C4024069"], "information_content": 92.8}
{"id": "MONDO:0019199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial granulomatous dermatitis with arthritis", "equivalent_identifiers": ["MONDO:0019199", "orphanet:79099", "UMLS:C4751206", "SNOMEDCT:773732005", "medgen:1658052"], "information_content": 100.0}
{"id": "HP:0009684", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stippling of the epiphysis of the distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009684", "UMLS:C4024235"], "information_content": 100.0}
{"id": "HP:0010026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the 1st metacarpal", "equivalent_identifiers": ["HP:0010026", "UMLS:C4024098"], "information_content": 92.8}
{"id": "MONDO:0017384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute generalized exanthematous pustulosis", "equivalent_identifiers": ["MONDO:0017384", "orphanet:293173", "UMLS:C0877055", "MESH:D056150", "MEDDRA:10048468", "MEDDRA:10048799", "MEDDRA:10062372", "NCIT:C112122", "SNOMEDCT:702617007", "medgen:209091"], "information_content": 100.0}
{"id": "HP:0032022", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophilic dermal infiltration", "equivalent_identifiers": ["HP:0032022", "UMLS:C1868987", "MEDDRA:10067243"], "information_content": 100.0}
{"id": "orphanet:353327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital myasthenic syndromes with glycosylation defect", "equivalent_identifiers": ["orphanet:353327"]}
{"id": "HP:0030191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal peripheral nervous system synaptic transmission", "equivalent_identifiers": ["HP:0030191", "UMLS:C4021046"], "information_content": 73.6}
{"id": "HP:0030202", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Favorable response of weakness to acetylcholine esterase inhibitors", "equivalent_identifiers": ["HP:0030202", "UMLS:C4022581"], "information_content": 100.0}
{"id": "HP:0009028", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Generalized weakness of limb muscles", "equivalent_identifiers": ["HP:0009028", "UMLS:C4024605"], "information_content": 100.0}
{"id": "MONDO:0016834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "16p11.2p12.2 microduplication syndrome", "equivalent_identifiers": ["MONDO:0016834", "orphanet:261204", "UMLS:C4518821", "SNOMEDCT:733518000", "medgen:1377902"], "information_content": 100.0}
{"id": "MONDO:0004691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant polycystic kidney disease", "equivalent_identifiers": ["MONDO:0004691", "DOID:898", "orphanet:730", "EFO:1001496", "UMLS:C0085413", "MESH:D016891", "MEDDRA:10036046", "NCIT:C84578", "SNOMEDCT:765330003", "medgen:88404", "icd11.foundation:91220434", "ICD10:Q61.3", "ICD9:753.12"], "information_content": 86.3}
{"id": "HP:0025129", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal small intestinal mucosa morphology", "equivalent_identifiers": ["HP:0025129", "UMLS:C4476603"], "information_content": 81.3}
{"id": "HP:0032486", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated fecal osmolality", "equivalent_identifiers": ["HP:0032486", "UMLS:C5139377"], "information_content": 100.0}
{"id": "HP:0025090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal large intestinal mucosa morphology", "equivalent_identifiers": ["HP:0025090", "UMLS:C4476585"], "information_content": 95.4}
{"id": "MONDO:0019676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type B", "equivalent_identifiers": ["MONDO:0019676", "orphanet:93383", "UMLS:C1300267", "SNOMEDCT:389168002", "medgen:722046", "icd11.foundation:1534264812"], "information_content": 92.8}
{"id": "MONDO:0015248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-photosensitivity-short stature syndrome", "equivalent_identifiers": ["MONDO:0015248", "orphanet:1184", "UMLS:C4751230", "SNOMEDCT:773769008", "medgen:1655873"], "information_content": 100.0}
{"id": "MONDO:0015247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "opsoclonus-myoclonus syndrome", "equivalent_identifiers": ["MONDO:0015247", "orphanet:1183", "EFO:1001383", "UMLS:C0393626", "MESH:D053578", "NCIT:C4686", "SNOMEDCT:230350000", "medgen:97955"], "information_content": 100.0}
{"id": "MONDO:0014471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial proton-transporting ATP synthase complex deficiency", "equivalent_identifiers": ["MONDO:0014471", "DOID:0111143", "OMIM.PS:604273", "orphanet:254913", "UMLS:C4757950", "SNOMEDCT:780820008", "medgen:1655626", "icd11.foundation:902255625"], "information_content": 85.5}
{"id": "MONDO:0012008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lelis syndrome", "equivalent_identifiers": ["MONDO:0012008", "OMIM:608290", "orphanet:140936", "UMLS:C1842307", "MESH:C564261", "SNOMEDCT:719429003", "medgen:334042"], "information_content": 100.0}
{"id": "HP:0010802", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perioral hyperpigmentation", "equivalent_identifiers": ["HP:0010802", "UMLS:C4023699"], "information_content": 100.0}
{"id": "HP:0025476", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Testicular lipomatosis", "equivalent_identifiers": ["HP:0025476", "UMLS:C4477096"], "information_content": 100.0}
{"id": "MONDO:0019125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "relapsing polychondritis", "equivalent_identifiers": ["MONDO:0019125", "DOID:2556", "orphanet:728", "EFO:1001148", "UMLS:C0032453", "UMLS:C2936897", "MESH:C537574", "MESH:D011081", "MEDDRA:10008835", "MEDDRA:10038304", "NCIT:C157268", "SNOMEDCT:72275000", "medgen:45995", "icd11.foundation:1412888287", "ICD10:M94.1"], "information_content": 100.0}
{"id": "HP:0031481", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal mitral valve physiology", "equivalent_identifiers": ["HP:0031481", "UMLS:C4531094"], "information_content": 84.8}
{"id": "MONDO:0019192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AKT2-related familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0019192", "orphanet:79085", "UMLS:C5680134", "SNOMEDCT:1197746001", "medgen:1810936"], "information_content": 100.0}
{"id": "MONDO:0010062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0010062", "OMIM:271270", "orphanet:1185", "UMLS:C1849088", "MESH:C564802", "medgen:336495"], "information_content": 100.0}
{"id": "MONDO:0019193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired generalized lipodystrophy", "equivalent_identifiers": ["MONDO:0019193", "DOID:0080300", "orphanet:79086", "UMLS:C0271693", "MEDDRA:10087376", "MEDDRA:10087379", "NCIT:C131089", "SNOMEDCT:86907008", "medgen:543499"], "information_content": 100.0}
{"id": "MONDO:0012104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired partial lipodystrophy", "equivalent_identifiers": ["MONDO:0012104", "orphanet:79087", "UMLS:C0220989", "MESH:C562448", "MEDDRA:10053861", "MEDDRA:10053862", "MEDDRA:10053863", "NCIT:C129723", "SNOMEDCT:75659004", "medgen:66352", "icd11.foundation:2042663302"], "information_content": 95.4}
{"id": "MONDO:0019123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "continuous spikes and waves during sleep", "equivalent_identifiers": ["MONDO:0019123", "orphanet:725", "UMLS:C5552731", "MEDDRA:10078827", "MEDDRA:10078828", "MEDDRA:10088516", "medgen:1790601"], "information_content": 100.0}
{"id": "HP:0012010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with frontal focal spike waves", "equivalent_identifiers": ["HP:0012010", "UMLS:C4023081"], "information_content": 100.0}
{"id": "MONDO:0019122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic acute eosinophilic pneumonia", "equivalent_identifiers": ["MONDO:0019122", "DOID:9503", "orphanet:724", "UMLS:C0242459", "UMLS:C4518469", "MEDDRA:10024794", "MEDDRA:10035008", "MEDDRA:10052832", "MEDDRA:10052835", "NCIT:C35301", "SNOMEDCT:64936001", "SNOMEDCT:724499007", "medgen:1371970", "icd11.foundation:1455309767", "ICD10:J82.89"], "information_content": 100.0}
{"id": "MONDO:0017190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sporadic pheochromocytoma/secreting paraganglioma", "equivalent_identifiers": ["MONDO:0017190", "orphanet:276621", "UMLS:C4707333", "SNOMEDCT:765143008", "medgen:1636854"], "information_content": 90.9}
{"id": "MONDO:0019124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microscopic polyangiitis", "equivalent_identifiers": ["MONDO:0019124", "orphanet:727", "EFO:1000784", "UMLS:C2347126", "MESH:D055953", "MEDDRA:10063344", "NCIT:C70549", "SNOMEDCT:1144805008", "SNOMEDCT:239928004", "medgen:389393", "icd11.foundation:999231798"], "information_content": 100.0}
{"id": "HP:0012614", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine cytology", "equivalent_identifiers": ["HP:0012614", "NCIT:C4854", "UMLS:C0587955", "MEDDRA:10059261", "SNOMEDCT:310439007"], "information_content": 76.2}
{"id": "MONDO:0019120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pili bifurcati", "equivalent_identifiers": ["MONDO:0019120", "orphanet:720", "UMLS:C5574653", "SNOMEDCT:717360009", "medgen:1812698", "icd11.foundation:674923489"], "information_content": 100.0}
{"id": "MONDO:0019121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pneumocystosis", "equivalent_identifiers": ["MONDO:0019121", "DOID:11339", "orphanet:723", "EFO:0007448", "UMLS:C1535939", "MESH:D011020", "MEDDRA:10035659", "MEDDRA:10035661", "MEDDRA:10051460", "MEDDRA:10064108", "MEDDRA:10073755", "NCIT:C3334", "SNOMEDCT:415125002", "medgen:777048", "icd11.foundation:404370038", "ICD10:B59", "ICD9:136.3", "HP:0034286"], "information_content": 95.4}
{"id": "HP:0031863", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bloodstream infectious agent", "equivalent_identifiers": ["HP:0031863", "UMLS:C2317548", "SNOMEDCT:434156008"], "information_content": 81.3}
{"id": "MONDO:0018564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3p25.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018564", "orphanet:435638", "UMLS:C5437630", "SNOMEDCT:890123006", "medgen:1733655"], "information_content": 100.0}
{"id": "MONDO:0044626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female infertility due to oocyte meiotic arrest", "equivalent_identifiers": ["MONDO:0044626", "orphanet:488191", "UMLS:C5567489", "SNOMEDCT:1172637002", "medgen:1798912"], "information_content": 100.0}
{"id": "HP:0031515", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal meiosis", "equivalent_identifiers": ["HP:0031515", "UMLS:C4531070"], "information_content": 89.4}
{"id": "HP:0020155", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal oocyte morphology", "equivalent_identifiers": ["HP:0020155", "UMLS:C5209248"], "information_content": 90.9}
{"id": "MONDO:0008206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign paroxysmal tonic upgaze of childhood with ataxia", "equivalent_identifiers": ["MONDO:0008206", "OMIM:168885", "orphanet:1179", "UMLS:C1868576", "MESH:C566817", "SNOMEDCT:763127004", "medgen:401473"], "information_content": 100.0}
{"id": "MONDO:0010095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-tapetoretinal degeneration syndrome", "equivalent_identifiers": ["MONDO:0010095", "OMIM:272600", "orphanet:1178", "UMLS:C1848932", "MESH:C564788", "medgen:336461"], "information_content": 100.0}
{"id": "MONDO:0015371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "linear atrophoderma of Moulin", "equivalent_identifiers": ["MONDO:0015371", "orphanet:140933", "UMLS:C1274753", "SNOMEDCT:403395007", "medgen:698076", "icd11.foundation:1116101506"], "information_content": 100.0}
{"id": "MONDO:0008938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Harding ataxia", "equivalent_identifiers": ["MONDO:0008938", "OMIM:212895", "orphanet:1177", "UMLS:C0393520", "MESH:C535633", "SNOMEDCT:230228004", "medgen:140726"], "information_content": 100.0}
{"id": "MONDO:0008934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia-ectodermal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0008934", "OMIM:212835", "orphanet:1174", "UMLS:C1859306", "MESH:C535350", "SNOMEDCT:715371006", "medgen:347850"], "information_content": 100.0}
{"id": "orphanet:79076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile polyposis of infancy", "equivalent_identifiers": ["orphanet:79076"]}
{"id": "HP:0030257", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Freckled genitalia", "equivalent_identifiers": ["HP:0030257", "UMLS:C4021040"], "information_content": 100.0}
{"id": "HP:0032351", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phenylalaninuria", "equivalent_identifiers": ["HP:0032351", "UMLS:C5139286"], "information_content": 95.4}
{"id": "HP:0410021", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Musty odor", "equivalent_identifiers": ["HP:0410021", "UMLS:C4477065"], "information_content": 100.0}
{"id": "MONDO:0019191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related dacryoadenitis and sialadenitis", "equivalent_identifiers": ["MONDO:0019191", "DOID:12900", "orphanet:79078", "UMLS:C0026103", "MESH:D008882", "MEDDRA:10051457", "MEDDRA:10052317", "NCIT:C34819", "SNOMEDCT:7826003", "medgen:6399", "icd11.foundation:796087277"], "information_content": 95.4}
{"id": "MONDO:0017193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "symptomatic form of Coffin-Lowry syndrome in female carriers", "equivalent_identifiers": ["MONDO:0017193", "orphanet:276630", "UMLS:C5680787", "SNOMEDCT:1237577000", "medgen:1814465"], "information_content": 100.0}
{"id": "MONDO:0016641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limb transversal defect-cardiac anomaly syndrome", "equivalent_identifiers": ["MONDO:0016641", "orphanet:2492", "UMLS:C2931047", "MESH:C535856", "medgen:419705"], "information_content": 100.0}
{"id": "HP:0012691", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal T2 hypointense thalamic lesion", "equivalent_identifiers": ["HP:0012691", "UMLS:C4022775"], "information_content": 100.0}
{"id": "MONDO:0003257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior pituitary gland neoplasm", "equivalent_identifiers": ["MONDO:0003257", "DOID:5048", "UMLS:C1334957", "NCIT:C7157", "medgen:235368", "HP:0011752"], "information_content": 89.4}
{"id": "MONDO:0005657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aspergillosis", "equivalent_identifiers": ["MONDO:0005657", "DOID:13564", "orphanet:1163", "EFO:0007157", "UMLS:C0004030", "MESH:D001228", "MEDDRA:10003486", "MEDDRA:10003488", "MEDDRA:10051356", "MEDDRA:10051619", "MEDDRA:10074171", "NCIT:C2886", "SNOMEDCT:65553006", "medgen:13939", "icd11.foundation:1913468488", "ICD10:B44", "ICD9:117.3"], "information_content": 86.3}
{"id": "HP:0020103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Invasive pulmonary aspergillosis", "equivalent_identifiers": ["HP:0020103", "NCIT:C162141", "UMLS:C0276653", "MEDDRA:10022881", "SNOMEDCT:3214003", "MESH:D055744"], "information_content": 95.4}
{"id": "HP:0004267", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Narrow small joints of the hand", "equivalent_identifiers": ["HP:0004267", "UMLS:C4025382"], "information_content": 100.0}
{"id": "HP:0006256", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of hand joint mobility", "equivalent_identifiers": ["HP:0006256", "UMLS:C4025076"], "information_content": 85.5}
{"id": "MONDO:0016639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lower limb deficiency-hypospadias syndrome", "equivalent_identifiers": ["MONDO:0016639", "orphanet:2487", "UMLS:C2930962", "MESH:C535640", "SNOMEDCT:770561007", "medgen:418952"], "information_content": 100.0}
{"id": "MONDO:0018468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proton-pump inhibitor-responsive esophageal eosinophilia", "equivalent_identifiers": ["MONDO:0018468", "orphanet:411696", "UMLS:C4749332", "SNOMEDCT:770592009", "medgen:1669432"], "information_content": 100.0}
{"id": "HP:0410328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Egg allergy", "equivalent_identifiers": ["HP:0410328", "EFO:0007248", "NCIT:C172313", "UMLS:C0559469", "UMLS:C5139491", "MEDDRA:10014315", "MESH:D021181"], "information_content": 100.0}
{"id": "HP:0500095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Food-induced anaphylaxis", "equivalent_identifiers": ["HP:0500095", "UMLS:C0685898", "MEDDRA:10002200", "MEDDRA:10054843", "SNOMEDCT:91941002"], "information_content": 100.0}
{"id": "HP:0410227", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased anti-food allergen IgE antibody level", "equivalent_identifiers": ["HP:0410227", "UMLS:C4732866"], "information_content": 86.3}
{"id": "HP:0031985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophageal exudate", "equivalent_identifiers": ["HP:0031985", "UMLS:C4732792"], "information_content": 100.0}
{"id": "HP:0410152", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eosinophilic microabscess formation in the esophagus", "equivalent_identifiers": ["HP:0410152", "UMLS:C4703647"], "information_content": 100.0}
{"id": "MONDO:0009570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "McDonough syndrome", "equivalent_identifiers": ["MONDO:0009570", "OMIM:248950", "orphanet:2471", "UMLS:C0796038", "MESH:C538158", "SNOMEDCT:715441004", "medgen:162902", "icd11.foundation:1349711155"], "information_content": 100.0}
{"id": "MONDO:0011128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sheldon-hall syndrome", "equivalent_identifiers": ["MONDO:0011128", "DOID:0111599", "orphanet:1147", "UMLS:C1834523", "MESH:C538400", "SNOMEDCT:715216008", "medgen:320374", "icd11.foundation:1206883656"], "information_content": 90.9}
{"id": "MONDO:0011391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts", "equivalent_identifiers": ["MONDO:0011391", "DOID:0080315", "orphanet:2478", "UMLS:C1858854", "MESH:C536141", "SNOMEDCT:703536004", "medgen:347006"], "information_content": 90.9}
{"id": "MONDO:0015240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digitotalar dysmorphism", "equivalent_identifiers": ["MONDO:0015240", "DOID:0111596", "orphanet:1146", "MESH:C565097", "icd11.foundation:1679749810"], "information_content": 90.9}
{"id": "MONDO:0016604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysraphism-cleft lip/palate-limb reduction defects syndrome", "equivalent_identifiers": ["MONDO:0016604", "orphanet:2476", "UMLS:C5679624", "SNOMEDCT:1208338004", "medgen:1809965"], "information_content": 100.0}
{"id": "MONDO:0019156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioosteohypotrophic syndrome", "equivalent_identifiers": ["MONDO:0019156", "orphanet:75508", "UMLS:C4707561", "SNOMEDCT:765750001", "medgen:1641209"], "information_content": 100.0}
{"id": "MONDO:0015241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis-like syndrome", "equivalent_identifiers": ["MONDO:0015241", "orphanet:1149", "UMLS:C1859709", "MESH:C538124", "SNOMEDCT:702447002", "medgen:349229"], "information_content": 100.0}
{"id": "HP:0031958", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spastic paraparetic gait", "equivalent_identifiers": ["HP:0031958", "UMLS:C4732774"], "information_content": 95.4}
{"id": "HP:0009935", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the nasal septum", "equivalent_identifiers": ["HP:0009935", "UMLS:C4024156"], "information_content": 89.4}
{"id": "MONDO:0009566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "marfanoid habitus-autosomal recessive intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0009566", "OMIM:248770", "orphanet:2463", "UMLS:C1855347", "MESH:C565410", "medgen:343326"], "information_content": 100.0}
{"id": "HP:0004307", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal anatomic location of the heart", "equivalent_identifiers": ["HP:0004307", "UMLS:C4025359"], "information_content": 79.6}
{"id": "MONDO:0005100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "systemic sclerosis", "equivalent_identifiers": ["MONDO:0005100", "DOID:418", "orphanet:90291", "EFO:0000717", "UMLS:C0036421", "UMLS:C0700318", "MESH:D012595", "MEDDRA:10036814", "MEDDRA:10042953", "MEDDRA:10078638", "NCIT:C197525", "NCIT:C72070", "SNOMEDCT:89155008", "medgen:19897", "icd11.foundation:1084365812", "ICD10:M34.0", "ICD9:710.1"], "information_content": 86.3}
{"id": "HP:0031359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cutaneous sclerotic plaque", "equivalent_identifiers": ["HP:0031359", "UMLS:C4531175"], "information_content": 100.0}
{"id": "HP:0006261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal phalangeal joint morphology of the hand", "equivalent_identifiers": ["HP:0006261", "UMLS:C4021604"], "information_content": 78.0}
{"id": "HP:0031293", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Digital pitting scar", "equivalent_identifiers": ["HP:0031293", "UMLS:C3854542", "MEDDRA:10074929"], "information_content": 100.0}
{"id": "HP:0031917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Digital ulcer", "equivalent_identifiers": ["HP:0031917", "UMLS:C3267035", "MEDDRA:10072119", "MESH:C000721267"], "information_content": 95.4}
{"id": "HP:0033038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-RNA-polymerase-III-autoantibody positivity", "equivalent_identifiers": ["HP:0033038", "UMLS:C5421565"], "information_content": 100.0}
{"id": "HP:0033394", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-carbonic anhydrase II antibody positivity", "equivalent_identifiers": ["HP:0033394", "UMLS:C5539559"], "information_content": 100.0}
{"id": "HP:0034078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-centromere protein A antibody positivity", "equivalent_identifiers": ["HP:0034078", "UMLS:C5676674"], "information_content": 100.0}
{"id": "HP:0034079", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-centromere protein B antibody positivity", "equivalent_identifiers": ["HP:0034079", "UMLS:C5676675"], "information_content": 100.0}
{"id": "HP:0034080", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-U3 RNP antibody positivity", "equivalent_identifiers": ["HP:0034080", "UMLS:C5676676"], "information_content": 100.0}
{"id": "HP:0034081", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Th/To antibody positivity", "equivalent_identifiers": ["HP:0034081", "UMLS:C5676677"], "information_content": 100.0}
{"id": "HP:0034082", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-bicaudal D2 antibody positivity", "equivalent_identifiers": ["HP:0034082", "UMLS:C5676678"], "information_content": 100.0}
{"id": "HP:0034083", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-nucleolus-organizing region antibody positivity", "equivalent_identifiers": ["HP:0034083", "UMLS:C5676679"], "information_content": 100.0}
{"id": "HP:0034085", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-PM-Scl100 antibody positivity", "equivalent_identifiers": ["HP:0034085", "UMLS:C5676681"], "information_content": 100.0}
{"id": "HP:0034086", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-PM-Scl75 antibody positivity", "equivalent_identifiers": ["HP:0034086", "UMLS:C5676682"], "information_content": 100.0}
{"id": "HP:0034087", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-U11/U12 RNP antibody positivity", "equivalent_identifiers": ["HP:0034087", "UMLS:C5676683"], "information_content": 100.0}
{"id": "HP:0034089", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-B23 antibody positivity", "equivalent_identifiers": ["HP:0034089", "UMLS:C5676685"], "information_content": 100.0}
{"id": "HP:0034090", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-RuvBL1/2 antibody positivity", "equivalent_identifiers": ["HP:0034090", "UMLS:C5676686"], "information_content": 100.0}
{"id": "HP:0034091", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-platelet derived growth factor receptor", "equivalent_identifiers": ["HP:0034091", "UMLS:C5676687"], "information_content": 100.0}
{"id": "HP:0034094", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-angiotensin receptor type-1 antibody positivity", "equivalent_identifiers": ["HP:0034094", "UMLS:C5676690"], "information_content": 100.0}
{"id": "HP:0034095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-endothelin-1 type A receptor antibody positivity", "equivalent_identifiers": ["HP:0034095", "UMLS:C5676691"], "information_content": 100.0}
{"id": "HP:0034117", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-angiotensin-converting enzyme 2 antibody positivity", "equivalent_identifiers": ["HP:0034117", "UMLS:C5676713"], "information_content": 100.0}
{"id": "HP:4000171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-voltage-gated potassium channel antibody positivity", "equivalent_identifiers": ["HP:4000171", "UMLS:C5826900"], "information_content": 100.0}
{"id": "MONDO:0016584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibuloacral dysplasia", "equivalent_identifiers": ["MONDO:0016584", "DOID:0081127", "OMIM.PS:248370", "orphanet:2457", "UMLS:C0432291", "medgen:98485", "icd11.foundation:1687046570"], "information_content": 92.8}
{"id": "HP:0031427", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating osteocalcin level", "equivalent_identifiers": ["HP:0031427", "UMLS:C4531127"], "information_content": 92.8}
{"id": "MONDO:0015233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "caudal appendage-deafness syndrome", "equivalent_identifiers": ["MONDO:0015233", "orphanet:1123", "UMLS:C2931593", "MESH:C537713", "SNOMEDCT:726621009", "medgen:419843"], "information_content": 100.0}
{"id": "HP:0003796", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irregular iliac crest", "equivalent_identifiers": ["HP:0003796", "UMLS:C1855180"], "information_content": 92.8}
{"id": "MONDO:0010750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulnar hypoplasia-split foot syndrome", "equivalent_identifiers": ["MONDO:0010750", "OMIM:314360", "orphanet:1122", "UMLS:C1839123", "MESH:C536936", "medgen:333256"], "information_content": 100.0}
{"id": "MONDO:0019560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lupus erythematosus tumidus", "equivalent_identifiers": ["MONDO:0019560", "orphanet:90283", "UMLS:C0406636", "MEDDRA:10074628", "NCIT:C117112", "SNOMEDCT:200941006", "medgen:590566", "icd11.foundation:153320433"], "information_content": 100.0}
{"id": "MONDO:0015234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arachnodactyly-abnormal ossification-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0015234", "orphanet:1129", "UMLS:C2931398", "MESH:C537024", "SNOMEDCT:720501007", "medgen:419792"], "information_content": 100.0}
{"id": "HP:0003059", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the radioulnar joints", "equivalent_identifiers": ["HP:0003059", "UMLS:C4025658"], "information_content": 86.3}
{"id": "HP:0003907", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal humeral metaphysis morphology", "equivalent_identifiers": ["HP:0003907", "UMLS:C4025517"], "information_content": 80.2}
{"id": "HP:0010228", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent epiphyses of the phalanges of the hand", "equivalent_identifiers": ["HP:0010228", "UMLS:C4021310"], "information_content": 79.0}
{"id": "HP:0030289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened femoral epiphysis", "equivalent_identifiers": ["HP:0030289", "UMLS:C1850642"], "information_content": 92.8}
{"id": "HP:0003839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal upper limb epiphysis morphology", "equivalent_identifiers": ["HP:0003839", "UMLS:C4021722"], "information_content": 60.2}
{"id": "MONDO:0019562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "localized scleroderma", "equivalent_identifiers": ["MONDO:0019562", "DOID:8472", "orphanet:90289", "EFO:1001361", "UMLS:C0036420", "MESH:D012594", "MEDDRA:10009206", "MEDDRA:10039712", "NCIT:C72069", "SNOMEDCT:201048007", "medgen:48586", "icd11.foundation:1430740369", "ICD10:L94.0", "ICD9:701.0"], "information_content": 84.8}
{"id": "HP:0011138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal skin adnexa morphology", "equivalent_identifiers": ["HP:0011138", "UMLS:C4023518"], "information_content": 58.7}
{"id": "MONDO:0019557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chilblain lupus", "equivalent_identifiers": ["MONDO:0019557", "DOID:0060386", "orphanet:90280", "UMLS:C4551515", "MEDDRA:10025141", "MEDDRA:10074626", "SNOMEDCT:238928005", "SNOMEDCT:72470008", "medgen:1632142"], "information_content": 90.9}
{"id": "HP:4000107", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Positive lupus band test", "equivalent_identifiers": ["HP:4000107", "UMLS:C5826853"], "information_content": 100.0}
{"id": "MONDO:0005629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acanthamoeba keratitis", "equivalent_identifiers": ["MONDO:0005629", "orphanet:67043", "EFO:0007126", "UMLS:C0000880", "MESH:D015823", "MEDDRA:10069408", "MEDDRA:10074137", "NCIT:C50450", "SNOMEDCT:231896005", "medgen:1268", "icd11.foundation:49744193"], "information_content": 100.0}
{"id": "HP:0004329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal posterior eye segment morphology", "equivalent_identifiers": ["HP:0004329", "UMLS:C4025354"], "information_content": 54.5}
{"id": "HP:0031530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multifocal subretinal deposits", "equivalent_identifiers": ["HP:0031530", "UMLS:C4531065"], "information_content": 100.0}
{"id": "HP:0012628", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal suspensory ligament of lens morphology", "equivalent_identifiers": ["HP:0012628", "UMLS:C4021077"], "information_content": 100.0}
{"id": "MONDO:0011261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability", "equivalent_identifiers": ["MONDO:0011261", "DOID:0112294", "OMIM:602611", "orphanet:163649", "UMLS:C1865134", "MESH:C566515", "SNOMEDCT:718766002", "medgen:355919"], "information_content": 100.0}
{"id": "HP:0011329", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of cranial sutures", "equivalent_identifiers": ["HP:0011329", "UMLS:C4023412"], "information_content": 69.3}
{"id": "HP:0100558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemiatrophy of upper limb", "equivalent_identifiers": ["HP:0100558", "UMLS:C0431814", "SNOMEDCT:253921005"], "information_content": 100.0}
{"id": "MONDO:0005919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placental insufficiency", "equivalent_identifiers": ["MONDO:0005919", "DOID:3891", "orphanet:439167", "EFO:0007443", "UMLS:C0032051", "MESH:D010927", "MEDDRA:10035138", "SNOMEDCT:237292005", "medgen:45942"], "information_content": 100.0}
{"id": "MONDO:0019032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability with isolated growth hormone deficiency", "equivalent_identifiers": ["MONDO:0019032", "orphanet:67045", "UMLS:C1848068", "MESH:C564712", "medgen:341145"], "information_content": 100.0}
{"id": "MONDO:0019031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia with congenital dyserythropoietic anemia", "equivalent_identifiers": ["MONDO:0019031", "orphanet:67044", "UMLS:C4302508", "SNOMEDCT:722475006", "medgen:928177"], "information_content": 100.0}
{"id": "MONDO:0015374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary central nervous system vasculitis", "equivalent_identifiers": ["MONDO:0015374", "orphanet:140989", "UMLS:C0338589", "UMLS:C2930862", "MESH:C535276", "MESH:C537295", "MEDDRA:10089654", "MEDDRA:10089656", "SNOMEDCT:230734005", "SNOMEDCT:699814001", "medgen:419271"], "information_content": 95.4}
{"id": "MONDO:0015084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FRAXF syndrome", "equivalent_identifiers": ["MONDO:0015084", "orphanet:100974", "UMLS:C4274329", "SNOMEDCT:716708005", "medgen:897295"], "information_content": 100.0}
{"id": "MONDO:0015085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bathing suit ichthyosis", "equivalent_identifiers": ["MONDO:0015085", "orphanet:100976", "UMLS:C4511230", "SNOMEDCT:725588002", "medgen:1386460", "icd11.foundation:174005370"], "information_content": 100.0}
{"id": "HP:0008496", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Multiple rows of eyelashes", "equivalent_identifiers": ["HP:0008496", "UMLS:C3550336"], "information_content": 83.6}
{"id": "orphanet:247798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MUTYH-related polyposis", "equivalent_identifiers": ["orphanet:247798"]}
{"id": "HP:0004002", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened radial epiphyses", "equivalent_identifiers": ["HP:0004002", "UMLS:C4025455"], "information_content": 92.8}
{"id": "HP:0004037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ulnar epiphysis morphology", "equivalent_identifiers": ["HP:0004037", "UMLS:C4021689"], "information_content": 81.3}
{"id": "HP:0025264", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff ankle", "equivalent_identifiers": ["HP:0025264", "UMLS:C0427032", "MEDDRA:10002552", "SNOMEDCT:249912007"], "information_content": 100.0}
{"id": "HP:0100290", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of peripheral somatosensory evoked potentials", "equivalent_identifiers": ["HP:0100290", "UMLS:C4022164"], "information_content": 100.0}
{"id": "MONDO:0008806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome", "equivalent_identifiers": ["MONDO:0008806", "OMIM:207620", "orphanet:1112", "UMLS:C1859754", "MESH:C535881", "SNOMEDCT:733118006", "medgen:347225"], "information_content": 100.0}
{"id": "MONDO:0007143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0007143", "OMIM:107500", "orphanet:1110", "UMLS:C1862682", "MESH:C537785", "medgen:350734"], "information_content": 100.0}
{"id": "HP:0010653", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the falx cerebri", "equivalent_identifiers": ["HP:0010653", "UMLS:C4021247"], "information_content": 92.8}
{"id": "MONDO:0017806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "15q overgrowth syndrome", "equivalent_identifiers": ["MONDO:0017806", "orphanet:314585", "UMLS:C4749920", "SNOMEDCT:771477003", "medgen:1661769"], "information_content": 92.8}
{"id": "HP:0008519", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal coccyx morphology", "equivalent_identifiers": ["HP:0008519", "UMLS:C4024658"], "information_content": 87.2}
{"id": "MONDO:0012638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia-brain atrophy syndrome", "equivalent_identifiers": ["MONDO:0012638", "DOID:0111812", "OMIM:611222", "orphanet:77299", "UMLS:C1970013", "MESH:C566985", "SNOMEDCT:720010009", "medgen:370809"], "information_content": 100.0}
{"id": "MONDO:0018199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "new-onset refractory status epilepticus", "equivalent_identifiers": ["MONDO:0018199", "orphanet:363558", "UMLS:C4749462", "MEDDRA:10087465", "SNOMEDCT:770758009", "medgen:1657271"], "information_content": 100.0}
{"id": "HP:0032894", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seizure precipitated by febrile infection", "equivalent_identifiers": ["HP:0032894", "UMLS:C5397899"], "information_content": 77.6}
{"id": "HP:0033716", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with frontal epileptiform discharges", "equivalent_identifiers": ["HP:0033716", "UMLS:C5539775"], "information_content": 89.4}
{"id": "HP:0033717", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEG with temporal epileptiform discharges", "equivalent_identifiers": ["HP:0033717", "UMLS:C5539776"], "information_content": 89.4}
{"id": "MONDO:0035153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "male infertility due to acephalic spermatozoa", "equivalent_identifiers": ["MONDO:0035153", "DOID:0112311", "orphanet:529970"], "information_content": 100.0}
{"id": "MONDO:0016574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0016574", "orphanet:2435", "UMLS:C1835172", "MESH:C537836", "SNOMEDCT:733469003", "medgen:371988"], "information_content": 100.0}
{"id": "MONDO:0009547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrosomia-microphthalmia-cleft palate syndrome", "equivalent_identifiers": ["MONDO:0009547", "OMIM:248110", "orphanet:2432", "UMLS:C1855467", "MESH:C537830", "medgen:340874"], "information_content": 100.0}
{"id": "MONDO:0015230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome", "equivalent_identifiers": ["MONDO:0015230", "orphanet:1101", "UMLS:C4304035", "SNOMEDCT:720495005", "medgen:929704"], "information_content": 100.0}
{"id": "HP:0500030", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hepatic glycogen storage", "equivalent_identifiers": ["HP:0500030", "UMLS:C4477087"], "information_content": 89.4}
{"id": "MONDO:0100567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary angioedema with normal C1Inh", "equivalent_identifiers": ["MONDO:0100567", "orphanet:528647", "UMLS:C1960459", "MEDDRA:10080959", "medgen:743231"], "information_content": 100.0}
{"id": "MONDO:0018486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visual snow syndrome", "equivalent_identifiers": ["MONDO:0018486", "orphanet:420556", "UMLS:C4324662", "MESH:C000726567", "MEDDRA:10079450", "SNOMEDCT:771237009", "medgen:1661883", "icd11.foundation:806322116"], "information_content": 100.0}
{"id": "MONDO:0001186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "depersonalization disorder", "equivalent_identifiers": ["MONDO:0001186", "DOID:11038", "UMLS:C0011551", "UMLS:C0683416", "MESH:D003861", "MEDDRA:10012357", "MEDDRA:10012358", "MEDDRA:10012359", "MEDDRA:10012360", "NCIT:C94331", "SNOMEDCT:70764005", "SNOMEDCT:79499004", "medgen:151919", "ICD9:300.6", "HP:5200217"], "information_content": 100.0}
{"id": "HP:6001103", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Entoptic phenomenon", "equivalent_identifiers": ["HP:6001103", "UMLS:C0042795", "SNOMEDCT:421809001", "MESH:D014788"], "information_content": 100.0}
{"id": "MONDO:0008467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Czeizel-Losonci syndrome", "equivalent_identifiers": ["MONDO:0008467", "OMIM:183802", "orphanet:2437", "UMLS:C1866739", "MESH:C566662", "SNOMEDCT:732927000", "medgen:401071"], "information_content": 100.0}
{"id": "MONDO:0035151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "17q24.2 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0035151", "orphanet:529962", "UMLS:C5680185", "SNOMEDCT:1229873009", "medgen:1808156"], "information_content": 100.0}
{"id": "MONDO:0018198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute encephalopathy with biphasic seizures and late reduced diffusion", "equivalent_identifiers": ["MONDO:0018198", "orphanet:363549", "UMLS:C4707658", "NCIT:C202017", "SNOMEDCT:766044005", "medgen:1645136"], "information_content": 100.0}
{"id": "orphanet:163634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maffucci syndrome", "equivalent_identifiers": ["orphanet:163634"]}
{"id": "MONDO:0021360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tumor of parathyroid gland", "equivalent_identifiers": ["MONDO:0021360", "UMLS:C0030521", "MESH:D010282", "MEDDRA:10033962", "MEDDRA:10033963", "MEDDRA:10033966", "NCIT:C3313", "SNOMEDCT:127020005", "medgen:10586", "HP:0100733"], "information_content": 77.8}
{"id": "MONDO:0013730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "graft versus host disease", "equivalent_identifiers": ["MONDO:0013730", "DOID:0081267", "orphanet:39812", "UMLS:C0018133", "MESH:D006086", "MEDDRA:10018651", "MEDDRA:10018798", "MEDDRA:10018799", "NCIT:C3063", "SNOMEDCT:234646005", "medgen:9082", "icd11:4B24", "icd11.foundation:437372167"], "information_content": 79.6}
{"id": "MONDO:0010858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly-spastic paraplegia-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0010858", "OMIM:600302", "orphanet:2429", "UMLS:C1838281", "MESH:C563963", "SNOMEDCT:716108004", "medgen:373933"], "information_content": 100.0}
{"id": "MONDO:0017805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome", "equivalent_identifiers": ["MONDO:0017805", "orphanet:314575", "UMLS:C4751073", "SNOMEDCT:773621003", "medgen:1655593"], "information_content": 100.0}
{"id": "HP:6000507", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-pitting edema", "equivalent_identifiers": ["HP:6000507", "UMLS:C1265804", "MEDDRA:10083903", "MEDDRA:10083904", "SNOMEDCT:125308006", "SNOMEDCT:420435001"], "information_content": 100.0}
{"id": "HP:6001012", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erythema marginatum", "equivalent_identifiers": ["HP:6001012", "UMLS:C0085659", "MEDDRA:10015216", "MEDDRA:10052585"], "information_content": 100.0}
{"id": "MONDO:0018681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome", "equivalent_identifiers": ["MONDO:0018681", "orphanet:453499"], "information_content": 92.8}
{"id": "MONDO:0011081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dislocation of the hip-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0011081", "OMIM:601450", "orphanet:2412", "UMLS:C1832353", "UMLS:C4706570", "MESH:C563315", "SNOMEDCT:763755009", "medgen:316970"], "information_content": 100.0}
{"id": "HP:0025540", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal T cell subset distribution", "equivalent_identifiers": ["HP:0025540", "UMLS:C4476840"], "information_content": 71.9}
{"id": "HP:0003895", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flattened humeral epiphyses", "equivalent_identifiers": ["HP:0003895", "UMLS:C4025525"], "information_content": 100.0}
{"id": "HP:0040221", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the dental root", "equivalent_identifiers": ["HP:0040221", "UMLS:C4280722"], "information_content": 100.0}
{"id": "MONDO:0018467", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephropathic infantile cystinosis", "equivalent_identifiers": ["MONDO:0018467", "orphanet:411629", "UMLS:C3537440", "MESH:C565655", "SNOMEDCT:62332007", "medgen:760976"], "information_content": 100.0}
{"id": "HP:0011852", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chylopericardium", "equivalent_identifiers": ["HP:0011852", "UMLS:C0242426", "SNOMEDCT:233890005"], "information_content": 100.0}
{"id": "HP:0009659", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial absence of thumb", "equivalent_identifiers": ["HP:0009659", "UMLS:C4020780", "UMLS:C4024255", "SNOMEDCT:1145521002"], "information_content": 90.9}
{"id": "MONDO:0009648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral motor neuropathy-dysautonomia syndrome", "equivalent_identifiers": ["MONDO:0009648", "OMIM:252320", "orphanet:2400", "UMLS:C1854961", "MESH:C536988", "SNOMEDCT:230557001", "medgen:381527", "icd11.foundation:1468523039"], "information_content": 100.0}
{"id": "MONDO:0016568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lowe-Kohn-Cohen syndrome", "equivalent_identifiers": ["MONDO:0016568", "orphanet:2408", "UMLS:C2931080", "UMLS:C4707726", "MESH:C535996", "SNOMEDCT:766249007", "medgen:443973", "icd11.foundation:2061193977"], "information_content": 100.0}
{"id": "HP:6000956", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exuberant granulation tissue", "equivalent_identifiers": ["HP:6000956", "UMLS:C0263634", "MEDDRA:10063560", "MEDDRA:10071637", "MEDDRA:10079111", "SNOMEDCT:31825002"], "information_content": 100.0}
{"id": "MONDO:0016567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Locked-In State", "equivalent_identifiers": ["MONDO:0016567", "DOID:12697", "orphanet:2406", "UMLS:C0023944", "MESH:D000080422", "MEDDRA:10024791", "MEDDRA:10024792", "NCIT:C197925", "SNOMEDCT:38023001", "medgen:7378", "icd11.foundation:17562655", "ICD10:G83.5", "ICD9:344.81"], "information_content": 100.0}
{"id": "MONDO:0015583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2p21 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0015583", "orphanet:163693", "UMLS:C4304537", "SNOMEDCT:719652007", "medgen:930206"], "information_content": 95.4}
{"id": "HP:0009648", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Triangular shaped distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009648", "UMLS:C4024257"], "information_content": 100.0}
{"id": "HP:0009660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short phalanx of the thumb", "equivalent_identifiers": ["HP:0009660", "UMLS:C4021411"], "information_content": 90.9}
{"id": "orphanet:280763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Severe intellectual disability and progressive spastic paraplegia", "equivalent_identifiers": ["orphanet:280763"]}
{"id": "HP:0032009", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infantile constant exotropia", "equivalent_identifiers": ["HP:0032009", "UMLS:C4732800"], "information_content": 100.0}
{"id": "MONDO:0010073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda, Kohn type", "equivalent_identifiers": ["MONDO:0010073", "DOID:0112292", "OMIM:271620", "orphanet:163665", "UMLS:C1849053", "UMLS:C4304888", "MESH:C564796", "SNOMEDCT:719202006", "medgen:338603", "icd11.foundation:758715188"], "information_content": 100.0}
{"id": "MONDO:0018301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial cystitis", "equivalent_identifiers": ["MONDO:0018301", "DOID:13949", "DOID:1678", "orphanet:37202", "EFO:0008507", "EFO:1000869", "UMLS:C0282488", "UMLS:C0600040", "MESH:D018856", "MEDDRA:10008927", "MEDDRA:10008928", "MEDDRA:10011796", "MEDDRA:10011801", "NCIT:C27189", "SNOMEDCT:111409009", "SNOMEDCT:197834003", "medgen:129176", "icd11.foundation:1650709285", "ICD10:N30.1", "ICD9:595.1"], "information_content": 100.0}
{"id": "HP:0003943", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the joint spaces of the elbow", "equivalent_identifiers": ["HP:0003943", "UMLS:C4025491"], "information_content": 95.4}
{"id": "MONDO:0044663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aquagenic palmoplantar keratoderma", "equivalent_identifiers": ["MONDO:0044663", "orphanet:498359", "UMLS:C4087301", "MEDDRA:10077962", "SNOMEDCT:1169365006", "medgen:1789947"], "information_content": 100.0}
{"id": "HP:0031289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "White papule", "equivalent_identifiers": ["HP:0031289", "UMLS:C0858697", "MEDDRA:10047970"], "information_content": 100.0}
{"id": "MONDO:0019670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulnar hemimelia", "equivalent_identifiers": ["MONDO:0019670", "orphanet:93320", "UMLS:C0265583", "UMLS:C0265599", "SNOMEDCT:21893008", "SNOMEDCT:44444001", "medgen:539346", "icd11.foundation:1136383237"], "information_content": 92.8}
{"id": "HP:0040070", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal upper limb bone morphology", "equivalent_identifiers": ["HP:0040070", "UMLS:C4022454", "UMLS:C4022458"], "information_content": 52.6}
{"id": "HP:0003887", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal humeral head morphology", "equivalent_identifiers": ["HP:0003887", "UMLS:C4025528"], "information_content": 88.2}
{"id": "HP:0003967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerotic forearm bones", "equivalent_identifiers": ["HP:0003967", "UMLS:C4025472"], "information_content": 90.9}
{"id": "HP:0009959", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of phalanx of 3rd finger", "equivalent_identifiers": ["HP:0009959", "UMLS:C4021364"], "information_content": 83.6}
{"id": "HP:0010011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal 3rd metacarpal morphology", "equivalent_identifiers": ["HP:0010011", "UMLS:C4024112"], "information_content": 84.8}
{"id": "MONDO:0019671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Manus vara", "equivalent_identifiers": ["MONDO:0019671", "orphanet:93321", "UMLS:C0265581", "UMLS:C0265598", "SNOMEDCT:48008009", "SNOMEDCT:61900003", "medgen:539344", "icd11.foundation:653269137"], "information_content": 92.8}
{"id": "HP:0004243", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal scaphoid morphology", "equivalent_identifiers": ["HP:0004243", "UMLS:C4025397"], "information_content": 86.3}
{"id": "HP:0004252", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal trapezium morphology", "equivalent_identifiers": ["HP:0004252", "UMLS:C4025390"], "information_content": 88.2}
{"id": "HP:0009484", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deviation of the hand or of fingers of the hand", "equivalent_identifiers": ["HP:0009484", "UMLS:C4024338"], "information_content": 76.4}
{"id": "HP:0010037", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the 2nd metacarpal", "equivalent_identifiers": ["HP:0010037", "UMLS:C4024090"], "information_content": 100.0}
{"id": "MONDO:0033717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital cerebellar ataxia due to RNU12 mutation", "equivalent_identifiers": ["MONDO:0033717", "orphanet:512260", "UMLS:C5567894", "SNOMEDCT:1177169004", "medgen:1799317"], "information_content": 100.0}
{"id": "MONDO:0019672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibular hemimelia", "equivalent_identifiers": ["MONDO:0019672", "orphanet:93323", "UMLS:C0265634", "SNOMEDCT:76744005", "medgen:539380", "icd11.foundation:915482054"], "information_content": 92.8}
{"id": "orphanet:508410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial intestinal malrotation", "equivalent_identifiers": ["orphanet:508410"]}
{"id": "MONDO:0017243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bullous diffuse cutaneous mastocytosis", "equivalent_identifiers": ["MONDO:0017243", "orphanet:280785", "UMLS:C5546764", "SNOMEDCT:1148891004", "medgen:1781582", "icd11.foundation:227748867"], "information_content": 100.0}
{"id": "MONDO:0015606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xp22.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0015606", "orphanet:1643", "UMLS:C4512072", "SNOMEDCT:726733007", "medgen:1388343"], "information_content": 100.0}
{"id": "HP:0003871", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Deformed humerus", "equivalent_identifiers": ["HP:0003871", "UMLS:C4025539"], "information_content": 95.4}
{"id": "MONDO:0015605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 9p", "equivalent_identifiers": ["MONDO:0015605", "orphanet:1642", "UMLS:C0265425", "MESH:C538025", "SNOMEDCT:763530000", "medgen:539240"], "information_content": 100.0}
{"id": "MONDO:0008211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoleprechaunism syndrome, Patterson type", "equivalent_identifiers": ["MONDO:0008211", "OMIM:169170", "orphanet:2976", "UMLS:C1868546", "MESH:C536310", "SNOMEDCT:771262009", "medgen:358350"], "information_content": 100.0}
{"id": "HP:0006505", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal limb epiphysis morphology", "equivalent_identifiers": ["HP:0006505", "UMLS:C4021593"], "information_content": 56.5}
{"id": "HP:0012767", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal placental size", "equivalent_identifiers": ["HP:0012767", "UMLS:C4022732"], "information_content": 84.2}
{"id": "MONDO:0017574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic intestinal pseudoobstruction", "equivalent_identifiers": ["MONDO:0017574", "orphanet:2978", "UMLS:C0238062", "MEDDRA:10088266", "NCIT:C192634", "SNOMEDCT:235828008", "medgen:536759"], "information_content": 88.2}
{"id": "MONDO:0018577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa", "equivalent_identifiers": ["MONDO:0018577", "orphanet:436274", "UMLS:C5680045", "SNOMEDCT:1220599002", "medgen:1810682"], "information_content": 100.0}
{"id": "MONDO:0005312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pouchitis", "equivalent_identifiers": ["MONDO:0005312", "orphanet:217067", "EFO:0003921", "UMLS:C0376620", "MESH:D019449", "MEDDRA:10036463", "medgen:138232"], "information_content": 100.0}
{"id": "MONDO:0000705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clostridium difficile colitis", "equivalent_identifiers": ["MONDO:0000705", "DOID:0060185", "EFO:1001314", "UMLS:C0014358", "UMLS:C0085819", "UMLS:C0238106", "UMLS:C1257843", "UMLS:C1257844", "UMLS:C1257845", "MESH:D004761", "MEDDRA:10006833", "MEDDRA:10009657", "MEDDRA:10009899", "MEDDRA:10014879", "MEDDRA:10014900", "MEDDRA:10037128", "MEDDRA:10037130", "MEDDRA:10052815", "MEDDRA:10085157", "MEDDRA:10087449", "NCIT:C128347", "NCIT:C35286", "SNOMEDCT:397696004", "SNOMEDCT:423590009", "medgen:65946", "ICD10:A04.7", "HP:0032168"], "information_content": 100.0}
{"id": "MONDO:0018576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "equivalent_identifiers": ["MONDO:0018576", "orphanet:436271", "UMLS:C5688227", "SNOMEDCT:1220598005", "medgen:1806079"], "information_content": 100.0}
{"id": "HP:0040291", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Skeletal muscle steatosis", "equivalent_identifiers": ["HP:0040291", "UMLS:C4477033"], "information_content": 100.0}
{"id": "MONDO:0017242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous collagenous vasculopathy", "equivalent_identifiers": ["MONDO:0017242", "orphanet:280779", "UMLS:C4305323", "SNOMEDCT:718634003", "medgen:930992", "icd11.foundation:878108553"], "information_content": 100.0}
{"id": "HP:0011067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mesiodens", "equivalent_identifiers": ["HP:0011067", "UMLS:C0266030", "UMLS:C4280340", "SNOMEDCT:17802000"], "information_content": 100.0}
{"id": "MONDO:0010104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome", "equivalent_identifiers": ["MONDO:0010104", "OMIM:273050", "orphanet:2972", "UMLS:C1848903", "UMLS:C2931509", "MESH:C536952", "MESH:C537496", "SNOMEDCT:723442008", "medgen:341331"], "information_content": 100.0}
{"id": "MONDO:0015607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial chromosome Y deletion", "equivalent_identifiers": ["MONDO:0015607", "orphanet:1646", "UMLS:C1507149", "UMLS:C2931163", "MESH:C536297", "SNOMEDCT:717158001", "medgen:267211"], "information_content": 92.8}
{"id": "MONDO:0017573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX disorder of sex development-anorectal anomalies syndrome", "equivalent_identifiers": ["MONDO:0017573", "orphanet:2973", "UMLS:C4518078", "SNOMEDCT:733622000", "medgen:1382292"], "information_content": 100.0}
{"id": "orphanet:505395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ventilator-induced diaphragmatic dysfunction", "equivalent_identifiers": ["orphanet:505395"]}
{"id": "MONDO:0017244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoxanthomatous diffuse cutaneous mastocytosis", "equivalent_identifiers": ["MONDO:0017244", "orphanet:280794", "UMLS:C5679949", "medgen:1842453"], "information_content": 100.0}
{"id": "MONDO:0017732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-mannosidosis, infantile form", "equivalent_identifiers": ["MONDO:0017732", "orphanet:309282", "UMLS:C0342847", "medgen:575250"], "information_content": 100.0}
{"id": "MONDO:0018242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune hypoparathyroidism", "equivalent_identifiers": ["MONDO:0018242", "orphanet:36913", "UMLS:C0271865", "MEDDRA:10090022", "SNOMEDCT:75316000", "medgen:488838", "icd11.foundation:1790437089", "HP:0011771"], "information_content": 95.4}
{"id": "MONDO:0017733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-mannosidosis, adult form", "equivalent_identifiers": ["MONDO:0017733", "orphanet:309288", "UMLS:C0342848", "UMLS:C5679974", "SNOMEDCT:58112007", "medgen:1843432"], "information_content": 100.0}
{"id": "MONDO:0017570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte adhesion deficiency", "equivalent_identifiers": ["MONDO:0017570", "DOID:611", "DOID:6612", "orphanet:2968", "EFO:1001359", "UMLS:C0242597", "UMLS:C0272187", "MESH:D018370", "MEDDRA:10090483", "NCIT:C27874", "SNOMEDCT:77358003", "medgen:124419", "icd11.foundation:317341989"], "information_content": 82.1}
{"id": "MONDO:0002234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginitis", "equivalent_identifiers": ["MONDO:0002234", "DOID:2170", "EFO:0005757", "UMLS:C0042267", "UMLS:C0042268", "MESH:D014627", "MEDDRA:10046916", "MEDDRA:10046950", "MEDDRA:10063128", "NCIT:C26911", "SNOMEDCT:30800001", "medgen:21815", "icd11.foundation:290861382", "ICD10:N76", "ICD9:616.1", "HP:0030683", "MP:0003541"], "information_content": 85.5}
{"id": "HP:0500035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nasolacrimal sac granuloma", "equivalent_identifiers": ["HP:0500035", "UMLS:C4703687"], "information_content": 95.4}
{"id": "orphanet:2969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proteus-like syndrome", "equivalent_identifiers": ["orphanet:2969"]}
{"id": "MONDO:0015580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal monosomy 7q36", "equivalent_identifiers": ["MONDO:0015580", "orphanet:1636", "UMLS:C4706504", "SNOMEDCT:763529005", "medgen:1642679"], "information_content": 100.0}
{"id": "MONDO:0017569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "de Barsy syndrome", "equivalent_identifiers": ["MONDO:0017569", "DOID:0070143", "orphanet:2962", "UMLS:C0268354", "MESH:C535990", "MEDDRA:10083947", "SNOMEDCT:238826008", "medgen:82794"], "information_content": 92.8}
{"id": "MONDO:0017809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parkinsonism due to ATP13A2 deficiency", "equivalent_identifiers": ["MONDO:0017809", "orphanet:314632", "UMLS:C5230619", "SNOMEDCT:789657008"], "information_content": 100.0}
{"id": "MONDO:0017730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachromatic leukodystrophy, adult form", "equivalent_identifiers": ["MONDO:0017730", "orphanet:309271", "UMLS:C0751279", "SNOMEDCT:24326000", "medgen:199625"], "information_content": 100.0}
{"id": "MONDO:0005514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nanophthalmia", "equivalent_identifiers": ["MONDO:0005514", "DOID:0080634", "OMIM.PS:600165", "orphanet:35612", "UMLS:C4274282", "SNOMEDCT:716775009", "medgen:901455"], "information_content": 89.4}
{"id": "MONDO:0011142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, musculocontractural type", "equivalent_identifiers": ["MONDO:0011142", "orphanet:2953", "UMLS:C1866294", "MESH:C000600608", "SNOMEDCT:720860004", "medgen:356497"], "information_content": 92.8}
{"id": "MONDO:0017568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prata-Liberal-Goncalves syndrome", "equivalent_identifiers": ["MONDO:0017568", "orphanet:2956", "UMLS:C2931761", "MESH:C538180", "SNOMEDCT:773773006", "medgen:419156"], "information_content": 100.0}
{"id": "HP:0011064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal number of incisors", "equivalent_identifiers": ["HP:0011064", "UMLS:C4023554"], "information_content": 78.8}
{"id": "MONDO:0015571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deletion 5q35", "equivalent_identifiers": ["MONDO:0015571", "orphanet:1627", "UMLS:C2931574", "MESH:C537647", "SNOMEDCT:721158009", "medgen:419838"], "information_content": 100.0}
{"id": "MONDO:0017808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duplication of the pituitary gland", "equivalent_identifiers": ["MONDO:0017808", "orphanet:314621", "UMLS:C4755258", "SNOMEDCT:778005007", "medgen:1663161"], "information_content": 100.0}
{"id": "HP:0011729", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of joint mobility", "equivalent_identifiers": ["HP:0011729", "UMLS:C4023216"], "information_content": 61.7}
{"id": "MONDO:0017416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postpoliomyelitis syndrome", "equivalent_identifiers": ["MONDO:0017416", "DOID:4952", "orphanet:2942", "EFO:0007454", "UMLS:C0080040", "MESH:D016262", "MEDDRA:10036239", "SNOMEDCT:31097004", "medgen:36363", "icd11.foundation:2018885243", "ICD10:G14"], "information_content": 100.0}
{"id": "MONDO:0018845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal myositis", "equivalent_identifiers": ["MONDO:0018845", "orphanet:48918", "UMLS:C0409988", "SNOMEDCT:240119009", "medgen:592748", "icd11.foundation:708931518"], "information_content": 100.0}
{"id": "MONDO:0007100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial amyloid neuropathy", "equivalent_identifiers": ["MONDO:0007100", "DOID:0050638", "OMIM.PS:105210", "orphanet:271861", "EFO:0004129", "UMLS:C0206245", "MESH:C567782", "MESH:D028227", "MEDDRA:10019889", "MEDDRA:10057949", "NCIT:C84554", "SNOMEDCT:42295001", "medgen:104815", "icd11.foundation:807065795", "ICD10:E85.82"], "information_content": 87.2}
{"id": "HP:0031327", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transthyretin cardiac amyloidosis", "equivalent_identifiers": ["HP:0031327", "UMLS:C4531196", "MEDDRA:10087643"], "information_content": 100.0}
{"id": "MONDO:0015566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2q24 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0015566", "orphanet:1617", "UMLS:C2931816", "MESH:C538316", "SNOMEDCT:719658006", "medgen:419168"], "information_content": 100.0}
{"id": "HP:0010078", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bullet-shaped distal phalanx of the hallux", "equivalent_identifiers": ["HP:0010078", "UMLS:C4024067"], "information_content": 100.0}
{"id": "MONDO:0015579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hb Bart's hydrops fetalis", "equivalent_identifiers": ["MONDO:0015579", "orphanet:163596", "UMLS:C0272005", "SNOMEDCT:5300004", "medgen:543726"], "information_content": 100.0}
{"id": "HP:0031238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Necklace skeletal muscle fibers", "equivalent_identifiers": ["HP:0031238", "UMLS:C4531254"], "information_content": 100.0}
{"id": "MONDO:0018948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiminicore myopathy", "equivalent_identifiers": ["MONDO:0018948", "DOID:0080991", "orphanet:598", "UMLS:C0270962", "MEDDRA:10062549", "SNOMEDCT:55133004", "medgen:75731"], "information_content": 87.2}
{"id": "MONDO:0018942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrophagic myofasciitis", "equivalent_identifiers": ["MONDO:0018942", "orphanet:592", "UMLS:C2931639", "MESH:C537829", "SNOMEDCT:718175009", "medgen:419858"], "information_content": 100.0}
{"id": "MONDO:0017379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome", "equivalent_identifiers": ["MONDO:0017379", "orphanet:2928", "UMLS:C4749397", "SNOMEDCT:770679002", "medgen:1665486"], "information_content": 100.0}
{"id": "orphanet:2929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile polyposis syndrome", "equivalent_identifiers": ["orphanet:2929"]}
{"id": "MONDO:0018940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome", "equivalent_identifiers": ["MONDO:0018940", "DOID:3635", "OMIM.PS:601462", "orphanet:590", "UMLS:C0751882", "MESH:D020294", "MEDDRA:10083942", "NCIT:C84647", "SNOMEDCT:230672006", "medgen:155650", "icd11.foundation:1515367530"], "information_content": 76.2}
{"id": "MONDO:0009924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D-dependent rickets, type 1", "equivalent_identifiers": ["MONDO:0009924", "orphanet:289157", "UMLS:C0268689", "MESH:C562688", "NCIT:C131073", "SNOMEDCT:67049004", "medgen:124344", "icd11.foundation:1270705227"], "information_content": 92.8}
{"id": "MONDO:0006702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic inflammatory demyelinating polyradiculoneuropathy", "equivalent_identifiers": ["MONDO:0006702", "DOID:2536", "DOID:5213", "orphanet:2932", "EFO:1000868", "UMLS:C0393819", "MESH:D020277", "MEDDRA:10057645", "MEDDRA:10072650", "MEDDRA:10077384", "NCIT:C84636", "SNOMEDCT:128209004", "medgen:98292", "icd11.foundation:224318510", "ICD10:G61.81", "ICD9:357.81"], "information_content": 95.4}
{"id": "HP:0034135", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-neurofascin-155 antibody positivity", "equivalent_identifiers": ["HP:0034135", "UMLS:C5676731"], "information_content": 100.0}
{"id": "HP:0034136", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-neurofascin 186 antibody positivity", "equivalent_identifiers": ["HP:0034136", "UMLS:C5676732"], "information_content": 100.0}
{"id": "HP:0034137", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-contactin-1 antibody positivity", "equivalent_identifiers": ["HP:0034137", "UMLS:C5676733"], "information_content": 95.4}
{"id": "HP:0034138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-contactin-associated protein 1 antibody positivity", "equivalent_identifiers": ["HP:0034138", "UMLS:C5676734"], "information_content": 100.0}
{"id": "MONDO:0018734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "verrucous hemangioma", "equivalent_identifiers": ["MONDO:0018734", "DOID:470", "orphanet:464318", "UMLS:C0334540", "NCIT:C4299", "SNOMEDCT:20985003", "medgen:90802"], "information_content": 100.0}
{"id": "MONDO:0008286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "crossed polysyndactyly", "equivalent_identifiers": ["MONDO:0008286", "OMIM:175690", "orphanet:2935", "UMLS:C1867999", "MESH:C566773", "SNOMEDCT:770409009", "medgen:358112", "icd11.foundation:1884305247"], "information_content": 100.0}
{"id": "HP:0030006", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Single fiber EMG abnormality", "equivalent_identifiers": ["HP:0030006", "UMLS:C4022679"], "information_content": 95.4}
{"id": "HP:5000038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-titin antibody positivity", "equivalent_identifiers": ["HP:5000038", "UMLS:C5676867"], "information_content": 100.0}
{"id": "HP:5000047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-ryanodine receptor antibody", "equivalent_identifiers": ["HP:5000047", "UMLS:C5551506"], "information_content": 100.0}
{"id": "HP:5000048", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Kv1.4 antibody", "equivalent_identifiers": ["HP:5000048", "UMLS:C5558434"], "information_content": 100.0}
{"id": "HP:5000046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-Lrp4 antibody positivity", "equivalent_identifiers": ["HP:5000046", "UMLS:C5558433"], "information_content": 100.0}
{"id": "MONDO:0018939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscle-eye-brain disease", "equivalent_identifiers": ["MONDO:0018939", "orphanet:588", "UMLS:C0457133", "MEDDRA:10089751", "SNOMEDCT:277950001", "medgen:105341"], "information_content": 84.8}
{"id": "MONDO:0018733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability syndrome due to a DYRK1A point mutation", "equivalent_identifiers": ["MONDO:0018733", "orphanet:464311", "UMLS:C5679991", "medgen:1826160"], "information_content": 100.0}
{"id": "orphanet:2930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cronkhite-Canada syndrome", "equivalent_identifiers": ["orphanet:2930"]}
{"id": "HP:0011596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Left aortic arch with right descending aorta and right ductus arteriosus", "equivalent_identifiers": ["HP:0011596", "UMLS:C4023277"], "information_content": 100.0}
{"id": "HP:0003413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atlantoaxial abnormality", "equivalent_identifiers": ["HP:0003413", "UMLS:C4025617"], "information_content": 90.9}
{"id": "MONDO:0018937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 3", "equivalent_identifiers": ["MONDO:0018937", "DOID:12801", "orphanet:581", "UMLS:C0026706", "MESH:D009084", "MEDDRA:10056890", "MEDDRA:10056918", "NCIT:C61262", "SNOMEDCT:88393000", "medgen:6452", "icd11.foundation:1477250013"], "information_content": 89.4}
{"id": "MONDO:0018938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 4", "equivalent_identifiers": ["MONDO:0018938", "DOID:12804", "orphanet:582", "UMLS:C0026707", "MESH:D009085", "MEDDRA:10027983", "MEDDRA:10028095", "NCIT:C61263", "SNOMEDCT:378007", "medgen:44513", "icd11.foundation:2078241550", "ICD10:E76.219"], "information_content": 90.9}
{"id": "HP:0010441", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopic accessory finger-like appendage", "equivalent_identifiers": ["HP:0010441", "UMLS:C4023825"], "information_content": 100.0}
{"id": "MONDO:0017377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preaxial polydactyly-colobomata-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0017377", "orphanet:2921", "UMLS:C2931655", "MESH:C537888", "SNOMEDCT:733088002", "medgen:444110"], "information_content": 100.0}
{"id": "MONDO:0007194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial bicuspid aortic valve", "equivalent_identifiers": ["MONDO:0007194", "DOID:0080332", "OMIM.PS:109730", "orphanet:402075", "UMLS:C4749284", "SNOMEDCT:770435005", "medgen:1670287"], "information_content": 90.9}
{"id": "HP:0004962", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thoracic aorta calcification", "equivalent_identifiers": ["HP:0004962", "NCIT:C187664", "UMLS:C1969292"], "information_content": 90.9}
{"id": "MONDO:0017813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van Maldergem syndrome", "equivalent_identifiers": ["MONDO:0017813", "DOID:0060238", "OMIM.PS:601390", "orphanet:314679", "UMLS:C1832390", "MESH:C536530", "SNOMEDCT:763353000", "medgen:318616"], "information_content": 92.8}
{"id": "HP:0025261", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stiff finger", "equivalent_identifiers": ["HP:0025261", "UMLS:C0239596", "MEDDRA:10016695", "MEDDRA:10042040"], "information_content": 100.0}
{"id": "HP:0009837", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bullet-shaped distal phalanges of the hand", "equivalent_identifiers": ["HP:0009837", "UMLS:C4024189"], "information_content": 88.2}
{"id": "MONDO:0018601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome", "equivalent_identifiers": ["MONDO:0018601", "orphanet:440354", "UMLS:C5680056", "SNOMEDCT:1229999001", "medgen:1801714"], "information_content": 100.0}
{"id": "MONDO:0001586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 1", "equivalent_identifiers": ["MONDO:0001586", "DOID:12802", "orphanet:579", "UMLS:C0023786", "MESH:D008059", "MEDDRA:10056886", "NCIT:C85053", "SNOMEDCT:75610003", "medgen:44171", "icd11.foundation:1539226250"], "information_content": 88.2}
{"id": "MONDO:0017812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "segmental progressive overgrowth syndrome with fibroadipose hyperplasia", "equivalent_identifiers": ["MONDO:0017812", "orphanet:314662", "UMLS:C5192432", "SNOMEDCT:787094005", "medgen:1673986"], "information_content": 100.0}
{"id": "MONDO:0017365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary acrokeratotic poikiloderma, Weary type", "equivalent_identifiers": ["MONDO:0017365", "orphanet:2907", "UMLS:C0406556", "SNOMEDCT:238835001", "medgen:96059", "icd11.foundation:837824031"], "information_content": 100.0}
{"id": "MONDO:0021239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethra neoplasm", "equivalent_identifiers": ["MONDO:0021239", "EFO:0003846", "UMLS:C0041971", "MESH:D014523", "MEDDRA:10046458", "MEDDRA:10051869", "MEDDRA:10062223", "NCIT:C3428", "SNOMEDCT:126883004", "medgen:12014", "HP:0100517"], "information_content": 73.0}
{"id": "orphanet:2909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rothmund-Thomson syndrome", "equivalent_identifiers": ["orphanet:2909"]}
{"id": "MONDO:0017324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive hypophosphatemic rickets", "equivalent_identifiers": ["MONDO:0017324", "DOID:0050949", "orphanet:289176", "UMLS:C0342643", "MEDDRA:10077955", "MEDDRA:10077959", "NCIT:C123187", "SNOMEDCT:90505000", "medgen:137975"], "information_content": 92.8}
{"id": "HP:0008732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal hypophosphatemia", "equivalent_identifiers": ["HP:0008732", "UMLS:C4024631"], "information_content": 100.0}
{"id": "HP:0100036", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudo-fractures", "equivalent_identifiers": ["HP:0100036", "UMLS:C4021028"], "information_content": 100.0}
{"id": "MONDO:0017373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "poliomyelitis", "equivalent_identifiers": ["MONDO:0017373", "DOID:4953", "orphanet:2912", "EFO:0007450", "UMLS:C0032371", "MESH:D011051", "MEDDRA:10001003", "MEDDRA:10001100", "MEDDRA:10036008", "MEDDRA:10036009", "MEDDRA:10036012", "MEDDRA:10036013", "MEDDRA:10036014", "MEDDRA:10036016", "MEDDRA:10072661", "NCIT:C35550", "SNOMEDCT:398102009", "SNOMEDCT:398256009", "medgen:18545", "icd11.foundation:588527933", "ICD10:A80", "ICD9:045"], "information_content": 87.2}
{"id": "MONDO:0009895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial polydactyly-dental and vertebral anomalies syndrome", "equivalent_identifiers": ["MONDO:0009895", "OMIM:263540", "orphanet:2916", "UMLS:C1849732", "MESH:C564880", "medgen:342342"], "information_content": 100.0}
{"id": "MONDO:0017055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mycophenolate mofetil embryopathy", "equivalent_identifiers": ["MONDO:0017055", "orphanet:268249", "UMLS:C4509879", "SNOMEDCT:723406000", "medgen:1387699", "icd11.foundation:2111105927"], "information_content": 100.0}
{"id": "MONDO:0017362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuralgic amyotrophy", "equivalent_identifiers": ["MONDO:0017362", "orphanet:2901", "UMLS:C1510479", "MEDDRA:10029229", "medgen:307145", "icd11.foundation:302246011"], "information_content": 100.0}
{"id": "MONDO:0017363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic chronic eosinophilic pneumonia", "equivalent_identifiers": ["MONDO:0017363", "orphanet:2902", "UMLS:C2930941", "MESH:C535590", "SNOMEDCT:724500003", "medgen:443938", "icd11.foundation:958353326"], "information_content": 100.0}
{"id": "HP:0032017", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sputum eosinophilia", "equivalent_identifiers": ["HP:0032017", "UMLS:C0241234", "MEDDRA:10062305", "SNOMEDCT:167997000"], "information_content": 100.0}
{"id": "MONDO:0017364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "POEMS syndrome", "equivalent_identifiers": ["MONDO:0017364", "DOID:14039", "orphanet:2905", "EFO:1001115", "UMLS:C0085404", "MESH:D016878", "MEDDRA:10053869", "MEDDRA:10053915", "MEDDRA:10073023", "MEDDRA:10090598", "NCIT:C80303", "SNOMEDCT:79268002", "medgen:39276", "icd11.foundation:1555299114"], "information_content": 92.8}
{"id": "HP:0011122", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of skin physiology", "equivalent_identifiers": ["HP:0011122", "UMLS:C4023527"], "information_content": 67.0}
{"id": "MONDO:0003172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomeruloid hemangioma", "equivalent_identifiers": ["MONDO:0003172", "DOID:486", "UMLS:C1304511", "NCIT:C27505", "SNOMEDCT:403976007", "medgen:224917", "HP:0031357"], "information_content": 100.0}
{"id": "MONDO:0018760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DeSanto-Shinawi syndrome", "equivalent_identifiers": ["MONDO:0018760", "DOID:0081126", "orphanet:466943", "UMLS:C4225239", "SNOMEDCT:1187247007", "medgen:908218"], "information_content": 92.8}
{"id": "MONDO:0017810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "variant ABeta2M amyloidosis", "equivalent_identifiers": ["MONDO:0017810", "DOID:0080929", "orphanet:314652", "UMLS:C4302669", "SNOMEDCT:722292000", "medgen:928338", "icd11.foundation:1466418791"], "information_content": 100.0}
{"id": "HP:0011915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cardiovascular calcification", "equivalent_identifiers": ["HP:0011915", "UMLS:C4023128"], "information_content": 74.1}
{"id": "MONDO:0017811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion", "equivalent_identifiers": ["MONDO:0017811", "orphanet:314655", "UMLS:C4708510", "SNOMEDCT:768555009", "medgen:1636705"], "information_content": 100.0}
{"id": "MONDO:0008003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant progressive external ophthalmoplegia", "equivalent_identifiers": ["MONDO:0008003", "orphanet:254892", "UMLS:C5231255", "MESH:C563575", "SNOMEDCT:827115000", "medgen:1686757"], "information_content": 88.2}
{"id": "MONDO:0034989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-cardiac anomalies-short stature-joint laxity syndrome", "equivalent_identifiers": ["MONDO:0034989", "orphanet:508498", "UMLS:C5568572", "SNOMEDCT:1186729007", "medgen:1799995"], "information_content": 100.0}
{"id": "HP:0009997", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duplication of phalanx of hand", "equivalent_identifiers": ["HP:0009997", "UMLS:C4021349"], "information_content": 70.8}
{"id": "HP:0012487", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebellopontine angle arachnoid cyst", "equivalent_identifiers": ["HP:0012487", "UMLS:C4022884"], "information_content": 100.0}
{"id": "MONDO:0017056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion", "equivalent_identifiers": ["MONDO:0017056", "orphanet:268261", "UMLS:C5191008", "SNOMEDCT:783619003", "medgen:1673021"], "information_content": 100.0}
{"id": "MONDO:0005823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "legionellosis", "equivalent_identifiers": ["MONDO:0005823", "DOID:10458", "orphanet:549", "orphanet:600832", "EFO:0007342", "UMLS:C0023240", "MESH:D007876", "MEDDRA:10024179", "MEDDRA:10050919", "MEDDRA:10061266", "NCIT:C128334", "SNOMEDCT:26726000", "medgen:7292", "icd11.foundation:390042715", "icd11.foundation:424434722"], "information_content": 90.9}
{"id": "MONDO:0005124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leprosy", "equivalent_identifiers": ["MONDO:0005124", "DOID:1024", "orphanet:548", "EFO:0001054", "UMLS:C0023343", "MESH:D007918", "MEDDRA:10019138", "MEDDRA:10024229", "MEDDRA:10024230", "MEDDRA:10024231", "MEDDRA:10024232", "MEDDRA:10028451", "NCIT:C84824", "SNOMEDCT:81004002", "medgen:6049", "icd11.foundation:149072669", "ICD10:A30", "ICD9:030"], "information_content": 83.6}
{"id": "HP:0034102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-sphingolipid antibody positivity", "equivalent_identifiers": ["HP:0034102", "UMLS:C5676698"], "information_content": 100.0}
{"id": "MONDO:0001603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paralytic lagophthalmos", "equivalent_identifiers": ["MONDO:0001603", "DOID:12958", "UMLS:C0155197", "MEDDRA:10033842", "SNOMEDCT:59890007", "medgen:509844", "icd11.foundation:2122617367", "ICD10:H02.23", "ICD9:374.21", "HP:0030003"], "information_content": 100.0}
{"id": "orphanet:208999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paraneoplastic sensory ganglionopathy", "equivalent_identifiers": ["orphanet:208999"]}
{"id": "MONDO:0015541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hemophagocytic lymphohistiocytosis", "equivalent_identifiers": ["MONDO:0015541", "OMIM.PS:267700", "orphanet:540", "UMLS:C0272199", "MEDDRA:10070904", "MEDDRA:10070916", "MEDDRA:10081406", "MEDDRA:10081407", "SNOMEDCT:398250003", "medgen:78797"], "information_content": 83.6}
{"id": "MONDO:0016809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia with epilepsy", "equivalent_identifiers": ["MONDO:0016809", "orphanet:254881", "UMLS:C1843852", "MESH:C564395", "SNOMEDCT:699328003", "medgen:334510", "icd11.foundation:1238648682"], "information_content": 100.0}
{"id": "MONDO:0016810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive progressive external ophthalmoplegia", "equivalent_identifiers": ["MONDO:0016810", "orphanet:254886", "UMLS:C1850303", "MESH:C564926", "SNOMEDCT:827117008", "medgen:340509"], "information_content": 92.8}
{"id": "MONDO:0044651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome", "equivalent_identifiers": ["MONDO:0044651", "orphanet:496756", "UMLS:C5567451", "SNOMEDCT:1172588008", "medgen:1798874"], "information_content": 100.0}
{"id": "MONDO:0006277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung lymphangioleiomyomatosis", "equivalent_identifiers": ["MONDO:0006277", "DOID:3319", "orphanet:538", "EFO:1000334", "UMLS:C0349649", "NCIT:C38153", "SNOMEDCT:277844007", "medgen:91161"], "information_content": 100.0}
{"id": "MONDO:0018890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lyell syndrome", "equivalent_identifiers": ["MONDO:0018890", "orphanet:537"], "information_content": 100.0}
{"id": "MONDO:0017895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial papillary or follicular thyroid carcinoma", "equivalent_identifiers": ["MONDO:0017895", "orphanet:319487", "UMLS:C5191836", "NCIT:C118829", "SNOMEDCT:786038001", "medgen:1681657"], "information_content": 87.2}
{"id": "HP:0100493", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoammonemia", "equivalent_identifiers": ["HP:0100493", "UMLS:C4022041"], "information_content": 95.4}
{"id": "MONDO:0005828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "listeriosis", "equivalent_identifiers": ["MONDO:0005828", "DOID:11573", "orphanet:533", "EFO:0007347", "UMLS:C0023860", "UMLS:C5886852", "MESH:D008088", "MEDDRA:10024638", "MEDDRA:10024639", "MEDDRA:10024640", "MEDDRA:10024641", "NCIT:C82994", "SNOMEDCT:4241002", "SNOMEDCT:721739005", "medgen:9788", "icd11.foundation:419706488", "ICD10:A32", "ICD9:027.0"], "information_content": 89.4}
{"id": "HP:0011955", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic granulomatosis", "equivalent_identifiers": ["HP:0011955", "UMLS:C4023110"], "information_content": 100.0}
{"id": "HP:0034077", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-complement component C1q antibody positivity", "equivalent_identifiers": ["HP:0034077", "UMLS:C5676673"], "information_content": 100.0}
{"id": "MONDO:0001953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyuria", "equivalent_identifiers": ["MONDO:0001953", "DOID:1439", "UMLS:C0034359", "UMLS:C0555120", "MESH:D011776", "MEDDRA:10037686", "MEDDRA:10046621", "MEDDRA:10046666", "MEDDRA:10046684", "MEDDRA:10046685", "MEDDRA:10047964", "MEDDRA:10047967", "MEDDRA:10050791", "MEDDRA:10081083", "NCIT:C119028", "SNOMEDCT:271350002", "SNOMEDCT:275741008", "SNOMEDCT:275765006", "SNOMEDCT:4800001", "medgen:11078", "icd11.foundation:2000630356", "ICD10:R82.81", "HP:0012085"], "information_content": 92.8}
{"id": "HP:0033556", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-nucleoporin 62 antibody positivity", "equivalent_identifiers": ["HP:0033556", "UMLS:C5539681"], "information_content": 100.0}
{"id": "HP:0034096", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-phosphatidic acid antibody positivity", "equivalent_identifiers": ["HP:0034096", "UMLS:C5676692"], "information_content": 100.0}
{"id": "MONDO:0013941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria", "equivalent_identifiers": ["MONDO:0013941", "OMIM:614875", "orphanet:99646", "UMLS:C3553958", "medgen:766872", "icd11.foundation:1777127218"], "information_content": 100.0}
{"id": "HP:0005868", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal enchondromatosis", "equivalent_identifiers": ["HP:0005868", "UMLS:C4025121"], "information_content": 88.2}
{"id": "HP:0030294", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal chondromatosis of tibia", "equivalent_identifiers": ["HP:0030294", "UMLS:C4022531"], "information_content": 100.0}
{"id": "HP:0030296", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal chondromatosis of radius", "equivalent_identifiers": ["HP:0030296", "UMLS:C4022529"], "information_content": 100.0}
{"id": "HP:0030297", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Metaphyseal chondromatosis of ulna", "equivalent_identifiers": ["HP:0030297", "UMLS:C4022528"], "information_content": 100.0}
{"id": "MONDO:0018328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homozygous familial hypercholesterolemia", "equivalent_identifiers": ["MONDO:0018328", "orphanet:391665", "UMLS:C0342881", "MESH:D000090542", "MEDDRA:10057080", "MEDDRA:10057100", "SNOMEDCT:238078005", "medgen:575266"], "information_content": 100.0}
{"id": "HP:0006693", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myocardial steatosis", "equivalent_identifiers": ["HP:0006693", "UMLS:C4025000"], "information_content": 95.4}
{"id": "HP:0012373", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal eye physiology", "equivalent_identifiers": ["HP:0012373", "UMLS:C4022924", "UMLS:C5936712"], "information_content": 55.4}
{"id": "MONDO:0018930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monosomy 21", "equivalent_identifiers": ["MONDO:0018930", "orphanet:574", "UMLS:C0795875", "MESH:C537108", "medgen:162883"], "information_content": 100.0}
{"id": "MONDO:0013233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Handigodu type", "equivalent_identifiers": ["MONDO:0013233", "OMIM:613343", "orphanet:99642", "UMLS:C3150545", "SNOMEDCT:763885008", "medgen:461895", "icd11.foundation:2048058677"], "information_content": 100.0}
{"id": "HP:0004026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Broad radial metaphysis", "equivalent_identifiers": ["HP:0004026", "UMLS:C4021691"], "information_content": 100.0}
{"id": "MONDO:0008855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class II deficiency", "equivalent_identifiers": ["MONDO:0008855", "DOID:5812", "OMIM.PS:209920", "orphanet:572", "UMLS:C0242583", "UMLS:C5447452", "MESH:C537079", "NCIT:C176823", "NCIT:C3895", "SNOMEDCT:71904008", "medgen:1781237", "icd11.foundation:2021339495", "ICD10:D81.6"], "information_content": 88.2}
{"id": "MONDO:0018923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "22q11.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0018923", "orphanet:567", "icd11.foundation:1868156761"], "information_content": 89.4}
{"id": "HP:0031730", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axial myopia", "equivalent_identifiers": ["HP:0031730", "UMLS:C1443296", "SNOMEDCT:408757002"], "information_content": 100.0}
{"id": "MONDO:0018925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial or sporadic hemiplegic migraine", "equivalent_identifiers": ["MONDO:0018925", "orphanet:569", "UMLS:C0270862", "MEDDRA:10019476", "MEDDRA:10027604", "SNOMEDCT:59292006", "icd11.foundation:1957063016"], "information_content": 86.3}
{"id": "HP:0032900", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal manual automatism seizure", "equivalent_identifiers": ["HP:0032900", "UMLS:C5397905"], "information_content": 92.8}
{"id": "HP:0032901", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal pedal automatism seizure", "equivalent_identifiers": ["HP:0032901", "UMLS:C5397906"], "information_content": 92.8}
{"id": "MONDO:0018924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, Lenz type", "equivalent_identifiers": ["MONDO:0018924", "orphanet:568", "icd11.foundation:678242327"], "information_content": 100.0}
{"id": "MONDO:0018920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripartum cardiomyopathy", "equivalent_identifiers": ["MONDO:0018920", "DOID:9997", "orphanet:563", "EFO:0002628", "UMLS:C0269972", "UMLS:C0877208", "MESH:D000099088", "MEDDRA:10049430", "MEDDRA:10071182", "NCIT:C171602", "SNOMEDCT:62377009", "medgen:163756", "icd11.foundation:1218807936", "ICD10:O90.3", "ICD9:674.5"], "information_content": 95.4}
{"id": "HP:3000038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cricoid cartilage morphology", "equivalent_identifiers": ["HP:3000038", "UMLS:C4073246"], "information_content": 90.9}
{"id": "HP:0031072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal endocrine physiology", "equivalent_identifiers": ["HP:0031072", "UMLS:C4476951"], "information_content": 79.9}
{"id": "MONDO:0019665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monostotic fibrous dysplasia", "equivalent_identifiers": ["MONDO:0019665", "orphanet:93277", "UMLS:C0016064", "MESH:D005358", "NCIT:C53971", "SNOMEDCT:89859004", "medgen:42020", "icd11.foundation:1033883899", "HP:0010736"], "information_content": 100.0}
{"id": "MONDO:0018815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aneurysmal bone cyst", "equivalent_identifiers": ["MONDO:0018815", "OMIM:606179", "orphanet:480553", "EFO:1001760", "UMLS:C0152244", "MESH:D017824", "MEDDRA:10002362", "NCIT:C3516", "SNOMEDCT:203468000", "SNOMEDCT:76000001", "medgen:57758", "icd11.foundation:1603788294", "HP:0012063"], "information_content": 88.2}
{"id": "MONDO:0018921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome", "equivalent_identifiers": ["MONDO:0018921", "DOID:0050778", "OMIM.PS:249000", "orphanet:564", "UMLS:C0265215", "NCIT:C98978", "SNOMEDCT:29076005", "medgen:120513", "icd11.foundation:695796893", "ICD9:753.1"], "information_content": 82.1}
{"id": "MONDO:0035646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital-onset Steinert myotonic dystrophy", "equivalent_identifiers": ["MONDO:0035646", "orphanet:589821", "UMLS:C5680305", "medgen:1842512"], "information_content": 100.0}
{"id": "MONDO:0035027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome", "equivalent_identifiers": ["MONDO:0035027", "orphanet:521445", "UMLS:C5681443", "SNOMEDCT:1279889005", "medgen:1830117"], "information_content": 100.0}
{"id": "HP:0020038", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertebrobasilar dolichoectasia", "equivalent_identifiers": ["HP:0020038", "UMLS:C0751572", "MEDDRA:10071505"], "information_content": 100.0}
{"id": "MONDO:0018913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malakoplakia", "equivalent_identifiers": ["MONDO:0018913", "orphanet:556", "EFO:1001807", "UMLS:C0024525", "UMLS:C0333746", "MESH:D008287", "MEDDRA:10080344", "MEDDRA:10090120", "NCIT:C36016", "NCIT:C84833", "SNOMEDCT:264545007", "SNOMEDCT:50707001", "SNOMEDCT:716766007", "SNOMEDCT:82662004", "medgen:44257", "HP:0033046"], "information_content": 100.0}
{"id": "HP:0007367", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophy/Degeneration affecting the central nervous system", "equivalent_identifiers": ["HP:0007367", "UMLS:C4024899"], "information_content": 54.4}
{"id": "HP:0002636", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dilatation of an abdominal artery", "equivalent_identifiers": ["HP:0002636", "UMLS:C4025694", "UMLS:C4476532"], "information_content": 89.4}
{"id": "HP:6000611", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated circulating chitotriosidase activity", "equivalent_identifiers": ["HP:6000611", "UMLS:C5937366"], "information_content": 100.0}
{"id": "HP:0011912", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the glenoid fossa", "equivalent_identifiers": ["HP:0011912", "UMLS:C4023131"], "information_content": 86.3}
{"id": "MONDO:0016807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pure mitochondrial myopathy", "equivalent_identifiers": ["MONDO:0016807", "orphanet:254854", "UMLS:C4517289", "SNOMEDCT:732245008", "medgen:1375079", "icd11.foundation:141365898"], "information_content": 100.0}
{"id": "HP:0010940", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the nasal bone", "equivalent_identifiers": ["HP:0010940", "UMLS:C4023636"], "information_content": 90.9}
{"id": "MONDO:0016833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "14q12 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016833", "orphanet:261144", "UMLS:C4305240", "SNOMEDCT:719574007", "medgen:930909"], "information_content": 100.0}
{"id": "MONDO:0017729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachromatic leukodystrophy, late infantile form", "equivalent_identifiers": ["MONDO:0017729", "orphanet:309256", "UMLS:C0751278", "SNOMEDCT:40802007", "SNOMEDCT:47683004", "medgen:155529"], "information_content": 100.0}
{"id": "orphanet:157798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Serrated polyposis syndrome", "equivalent_identifiers": ["orphanet:157798"]}
{"id": "MONDO:0005335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colorectal neoplasm", "equivalent_identifiers": ["MONDO:0005335", "EFO:0004142", "UMLS:C0009404", "MESH:D015179", "MEDDRA:10089336", "NCIT:C2956", "SNOMEDCT:126837005", "medgen:3171", "HP:0100834"], "information_content": 58.0}
{"id": "orphanet:364028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability due to GRIA3 mutations", "equivalent_identifiers": ["orphanet:364028"]}
{"id": "HP:0030236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of muscle size", "equivalent_identifiers": ["HP:0030236", "UMLS:C4022563"], "information_content": 73.0}
{"id": "MONDO:0007680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multinodular goiter-cystic kidney-polydactyly syndrome", "equivalent_identifiers": ["MONDO:0007680", "OMIM:138790", "orphanet:2091", "UMLS:C1841853", "MESH:C535986", "SNOMEDCT:723409007", "medgen:333929"], "information_content": 100.0}
{"id": "MONDO:0007679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GMS syndrome", "equivalent_identifiers": ["MONDO:0007679", "OMIM:138770", "orphanet:2090", "UMLS:C1841854", "MESH:C564214", "SNOMEDCT:716024001", "medgen:374804"], "information_content": 100.0}
{"id": "orphanet:157794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hereditary mixed polyposis syndrome", "equivalent_identifiers": ["orphanet:157794"]}
{"id": "MONDO:0005825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leptospirosis", "equivalent_identifiers": ["MONDO:0005825", "DOID:2297", "orphanet:509", "EFO:0007344", "UMLS:C0023364", "UMLS:C0686708", "MESH:D007922", "MEDDRA:10024234", "MEDDRA:10024238", "MEDDRA:10024241", "NCIT:C84825", "SNOMEDCT:77377001", "SNOMEDCT:93465000", "medgen:7309", "icd11.foundation:751399056", "ICD10:A27", "ICD10:A27.0", "ICD9:100", "ICD9:100.0"], "information_content": 95.4}
{"id": "HP:0031197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cellular urinary casts", "equivalent_identifiers": ["HP:0031197", "UMLS:C0427895", "MEDDRA:10007716", "SNOMEDCT:250445004"], "information_content": 90.9}
{"id": "HP:0004914", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent infantile hypoglycemia", "equivalent_identifiers": ["HP:0004914", "UMLS:C4021644"], "information_content": 100.0}
{"id": "MONDO:0018858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Graham Little-Piccardi-Lassueur syndrome", "equivalent_identifiers": ["MONDO:0018858", "orphanet:505", "UMLS:C4273658", "MEDDRA:10090035", "SNOMEDCT:718215008", "medgen:905915"], "information_content": 100.0}
{"id": "MONDO:0011989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leishmaniasis", "equivalent_identifiers": ["MONDO:0011989", "DOID:9065", "orphanet:507", "EFO:0005044", "UMLS:C0023281", "MESH:D007896", "MEDDRA:10024198", "MEDDRA:10024199", "MEDDRA:10024201", "MEDDRA:10057168", "NCIT:C34767", "SNOMEDCT:80612004", "medgen:9714", "icd11.foundation:1082373067", "ICD10:B55", "ICD9:085"], "information_content": 86.3}
{"id": "MONDO:0009697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lafora disease", "equivalent_identifiers": ["MONDO:0009697", "DOID:3534", "OMIM.PS:254780", "orphanet:501", "UMLS:C0751783", "MESH:D020192", "MEDDRA:10054030", "MEDDRA:10054037", "NCIT:C84804", "SNOMEDCT:230425004", "medgen:155631"], "information_content": 92.8}
{"id": "MONDO:0007893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome with multiple lentigines", "equivalent_identifiers": ["MONDO:0007893", "DOID:14291", "OMIM.PS:151100", "orphanet:500", "UMLS:C0175704", "MESH:D044542", "MEDDRA:10057210", "MEDDRA:10062901", "NCIT:C84820", "SNOMEDCT:111306001", "medgen:104494"], "information_content": 90.9}
{"id": "MONDO:0018675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG4-related ophthalmic disorder", "equivalent_identifiers": ["MONDO:0018675", "orphanet:449563", "UMLS:C5569009", "MEDDRA:10091105", "SNOMEDCT:1187510006", "medgen:1800432"], "information_content": 92.8}
{"id": "HP:3000061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of infra-orbital nerve", "equivalent_identifiers": ["HP:3000061", "UMLS:C4073269"], "information_content": 100.0}
{"id": "HP:0030669", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ocular adnexa morphology", "equivalent_identifiers": ["HP:0030669", "UMLS:C4073120"], "information_content": 61.1}
{"id": "MONDO:0016167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic pathway glioma", "equivalent_identifiers": ["MONDO:0016167", "orphanet:2086", "UMLS:C0796418", "MEDDRA:10030953", "NCIT:C8567", "medgen:162950", "icd11.foundation:1000103370"], "information_content": 80.2}
{"id": "MONDO:0035432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "POMGNT2-related limb-girdle muscular dystrophy R24", "equivalent_identifiers": ["MONDO:0035432", "orphanet:565899", "UMLS:C5680123", "SNOMEDCT:1279884000", "medgen:1830095"], "information_content": 100.0}
{"id": "MONDO:0020475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermotrichic syndrome", "equivalent_identifiers": ["MONDO:0020475", "orphanet:99688", "UMLS:C0795919", "SNOMEDCT:782916003", "medgen:1672480"], "information_content": 100.0}
{"id": "MONDO:0018661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zika fever", "equivalent_identifiers": ["MONDO:0018661", "DOID:0060478", "orphanet:448237", "UMLS:C0276289", "MESH:D000071243", "MEDDRA:10078205", "NCIT:C128423", "SNOMEDCT:3928002", "medgen:547236", "icd11.foundation:1401438580", "ICD10:A92.8", "ICD9:066.3"], "information_content": 95.4}
{"id": "HP:0012779", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Transient hearing impairment", "equivalent_identifiers": ["HP:0012779", "UMLS:C4022724"], "information_content": 100.0}
{"id": "MONDO:0034142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic agenesis-holoprosencephaly syndrome", "equivalent_identifiers": ["MONDO:0034142", "orphanet:556955", "UMLS:C5681334", "SNOMEDCT:1222660008", "medgen:1808942"], "information_content": 100.0}
{"id": "HP:0031209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased circulating lipoprotein lipase concentration", "equivalent_identifiers": ["HP:0031209", "UMLS:C4531277"], "information_content": 100.0}
{"id": "HP:0009658", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the thumb", "equivalent_identifiers": ["HP:0009658", "UMLS:C4024256"], "information_content": 84.2}
{"id": "MONDO:0016159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gemignani syndrome", "equivalent_identifiers": ["MONDO:0016159", "orphanet:2074", "UMLS:C2931587", "MESH:C537678", "SNOMEDCT:782690007", "medgen:444093"], "information_content": 100.0}
{"id": "MONDO:0016158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "narcolepsy-cataplexy syndrome", "equivalent_identifiers": ["MONDO:0016158", "orphanet:2073", "UMLS:C0751362", "NCIT:C196015", "SNOMEDCT:193042000", "medgen:199638", "icd11.foundation:1851015159"], "information_content": 89.4}
{"id": "HP:0100320", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rosenthal fiber", "equivalent_identifiers": ["HP:0100320", "UMLS:C0333731", "SNOMEDCT:84605001"], "information_content": 100.0}
{"id": "MONDO:0009272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "German syndrome", "equivalent_identifiers": ["MONDO:0009272", "OMIM:231080", "orphanet:2077", "UMLS:C3887495", "MESH:C562543", "SNOMEDCT:733037000", "medgen:854357"], "information_content": 100.0}
{"id": "MONDO:0033850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect", "equivalent_identifiers": ["MONDO:0033850", "orphanet:521411", "UMLS:C5569051", "SNOMEDCT:1187619001", "medgen:1800474"], "information_content": 100.0}
{"id": "MONDO:0008323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liddle syndrome", "equivalent_identifiers": ["MONDO:0008323", "DOID:0050477", "OMIM.PS:177200", "orphanet:526", "UMLS:C0221043", "MESH:D056929", "MEDDRA:10037105", "MEDDRA:10037113", "MEDDRA:10052313", "MEDDRA:10084243", "NCIT:C84827", "SNOMEDCT:707747007", "medgen:67439"], "information_content": 90.9}
{"id": "MONDO:0018884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Roch-Leri mesosomatous lipomatosis", "equivalent_identifiers": ["MONDO:0018884", "orphanet:529", "UMLS:C4274284", "SNOMEDCT:716772007", "medgen:896565"], "information_content": 100.0}
{"id": "MONDO:0018883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Berardinelli-Seip congenital lipodystrophy", "equivalent_identifiers": ["MONDO:0018883", "orphanet:528", "NCIT:C84594", "icd11.foundation:1628738474", "icd11.foundation:641763399"], "information_content": 90.9}
{"id": "orphanet:523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hereditary leiomyomatosis and renal cell cancer", "equivalent_identifiers": ["orphanet:523"]}
{"id": "HP:0006732", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papillary renal cell carcinoma type 2", "equivalent_identifiers": ["HP:0006732", "NCIT:C27887", "UMLS:C1336840"], "information_content": 100.0}
{"id": "MONDO:0018879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lichen planopilaris", "equivalent_identifiers": ["MONDO:0018879", "orphanet:525", "UMLS:C0023645", "MESH:C535892", "MEDDRA:10090037", "SNOMEDCT:64540004", "medgen:44150", "icd11.foundation:572258139"], "information_content": 100.0}
{"id": "orphanet:524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Li-Fraumeni syndrome", "equivalent_identifiers": ["orphanet:524"]}
{"id": "MONDO:0000640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system primitive neuroectodermal neoplasm", "equivalent_identifiers": ["MONDO:0000640", "DOID:0060103", "UMLS:C3887678", "NCIT:C5398", "medgen:854517", "HP:0030070"], "information_content": 80.9}
{"id": "MONDO:0019078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3C syndrome", "equivalent_identifiers": ["MONDO:0019078", "DOID:0060565", "OMIM.PS:220210", "orphanet:7", "UMLS:C0796137", "MESH:C535313", "SNOMEDCT:718556007", "medgen:163220"], "information_content": 89.4}
{"id": "MONDO:0006941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rat-bite fever", "equivalent_identifiers": ["MONDO:0006941", "orphanet:31205", "EFO:1001144", "UMLS:C0034686", "MESH:D011906", "MEDDRA:10037904", "MEDDRA:10037905", "MEDDRA:10046131", "NCIT:C34971", "SNOMEDCT:1685005", "medgen:11123", "icd11.foundation:1026551291"], "information_content": 92.8}
{"id": "HP:0025181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abdominal aseptic abscess", "equivalent_identifiers": ["HP:0025181", "UMLS:C4476641"], "information_content": 100.0}
{"id": "MONDO:0019339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "47,XYY syndrome", "equivalent_identifiers": ["MONDO:0019339", "orphanet:8", "UMLS:C3266843", "MESH:C535317", "MEDDRA:10056894", "NCIT:C85237", "SNOMEDCT:50749006", "medgen:473794"], "information_content": 90.9}
{"id": "HP:0001912", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal basophil morphology", "equivalent_identifiers": ["HP:0001912", "UMLS:C0855997", "UMLS:C4025736", "MEDDRA:10004171", "MEDDRA:10061689"], "information_content": 85.5}
{"id": "MONDO:0018950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylcrotonyl-CoA carboxylase deficiency", "equivalent_identifiers": ["MONDO:0018950", "DOID:0050710", "OMIM.PS:210200", "orphanet:6", "UMLS:C4551505", "NCIT:C98674", "SNOMEDCT:13144005", "medgen:1633312"], "information_content": 92.8}
{"id": "HP:0004357", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating leucine concentration", "equivalent_identifiers": ["HP:0004357", "UMLS:C4025341", "UMLS:C5139040"], "information_content": 87.2}
{"id": "MONDO:0018077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tularemia", "equivalent_identifiers": ["MONDO:0018077", "DOID:2123", "orphanet:3392", "EFO:1001444", "UMLS:C0041351", "MESH:D014406", "MEDDRA:10017330", "MEDDRA:10045146", "MEDDRA:10045147", "MEDDRA:10046199", "MEDDRA:10060438", "NCIT:C85208", "SNOMEDCT:19265001", "medgen:22520"], "information_content": 87.2}
{"id": "HP:3000033", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal nasopharyngeal adenoid morphology", "equivalent_identifiers": ["HP:3000033", "UMLS:C4073241"], "information_content": 85.5}
{"id": "HP:0012856", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal scrotal rugation", "equivalent_identifiers": ["HP:0012856", "UMLS:C4022707"], "information_content": 92.8}
{"id": "MONDO:0017775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melioidosis", "equivalent_identifiers": ["MONDO:0017775", "DOID:5052", "orphanet:31202", "UMLS:C0025229", "UMLS:C0348971", "MESH:D008554", "MEDDRA:10027165", "MEDDRA:10037137", "MEDDRA:10053031", "MEDDRA:10069748", "NCIT:C128336", "SNOMEDCT:186312003", "SNOMEDCT:428111003", "medgen:44346", "icd11.foundation:2129350166", "ICD10:A24.9", "ICD9:025"], "information_content": 95.4}
{"id": "MONDO:0019525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetrasomy X", "equivalent_identifiers": ["MONDO:0019525", "orphanet:9", "UMLS:C0265496", "MESH:C536502", "SNOMEDCT:10567003", "medgen:120544", "icd11.foundation:1181464236"], "information_content": 100.0}
{"id": "MONDO:0017776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nocardiosis", "equivalent_identifiers": ["MONDO:0017776", "DOID:2312", "orphanet:31204", "EFO:0007397", "UMLS:C0028242", "MESH:D009617", "MEDDRA:10029443", "MEDDRA:10029444", "MEDDRA:10064083", "NCIT:C171147", "SNOMEDCT:29227009", "medgen:18067", "icd11.foundation:6555116", "ICD10:A43"], "information_content": 100.0}
{"id": "MONDO:0016087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive non-infectious anterior vertebral fusion", "equivalent_identifiers": ["MONDO:0016087", "orphanet:2062", "UMLS:C4304839", "SNOMEDCT:719268008", "medgen:930508"], "information_content": 100.0}
{"id": "orphanet:542323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAR T cell therapy-associated cytokine release syndrome", "equivalent_identifiers": ["orphanet:542323"]}
{"id": "MONDO:0009627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome", "equivalent_identifiers": ["MONDO:0009627", "DOID:0080694", "OMIM.PS:251300", "orphanet:2065", "UMLS:C0795949", "MESH:C537548", "MEDDRA:10088355", "NCIT:C132195", "SNOMEDCT:721297008", "medgen:167086"], "information_content": 84.2}
{"id": "MONDO:0018868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachromatic leukodystrophy", "equivalent_identifiers": ["MONDO:0018868", "DOID:10581", "orphanet:512", "UMLS:C0023522", "MESH:D007966", "MEDDRA:10067609", "NCIT:C61251", "SNOMEDCT:238031009", "SNOMEDCT:396338004", "SNOMEDCT:66521008", "medgen:6071", "icd11.foundation:172326564", "ICD10:E75.25"], "information_content": 89.4}
{"id": "HP:0030858", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Addiction", "equivalent_identifiers": ["HP:0030858", "NCIT:C3479", "UMLS:C0085281", "MEDDRA:10001125", "MEDDRA:10012336", "MEDDRA:10079409", "MEDDRA:10079410", "SNOMEDCT:32709003", "MESH:D016739"], "information_content": 79.0}
{"id": "HP:0100762", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemobilia", "equivalent_identifiers": ["HP:0100762", "UMLS:C0018994", "MEDDRA:10058947", "MEDDRA:10058962", "SNOMEDCT:66556007", "MESH:D006431"], "information_content": 100.0}
{"id": "MONDO:0009563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maple syrup urine disease", "equivalent_identifiers": ["MONDO:0009563", "DOID:9269", "OMIM.PS:248600", "orphanet:511", "UMLS:C0024776", "MESH:D008375", "MEDDRA:10026817", "MEDDRA:10026818", "NCIT:C34806", "SNOMEDCT:27718001", "medgen:6217", "icd11.foundation:1623706568", "ICD10:E71.0"], "information_content": 84.8}
{"id": "MONDO:0016832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 7q11.23 microduplication syndrome", "equivalent_identifiers": ["MONDO:0016832", "orphanet:261102", "UMLS:C4750782", "SNOMEDCT:773325004", "medgen:1662568"], "information_content": 100.0}
{"id": "MONDO:0005789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatitis D", "equivalent_identifiers": ["MONDO:0005789", "DOID:2047", "orphanet:402823", "EFO:0007304", "UMLS:C0011226", "MESH:D003699", "MEDDRA:10019762", "MEDDRA:10019763", "SNOMEDCT:707341005", "medgen:4182"], "information_content": 100.0}
{"id": "MONDO:0009565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-glomerulonephritis-marfanoid habitus syndrome", "equivalent_identifiers": ["MONDO:0009565", "OMIM:248760", "orphanet:2172", "UMLS:C1855348", "MESH:C565411", "medgen:343327"], "information_content": 100.0}
{"id": "HP:0025040", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thalamic edema", "equivalent_identifiers": ["HP:0025040", "UMLS:C4476560"], "information_content": 100.0}
{"id": "HP:0025099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dysgenesis of the thalamus", "equivalent_identifiers": ["HP:0025099", "UMLS:C4476589"], "information_content": 100.0}
{"id": "HP:0410279", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atrophic pituitary gland", "equivalent_identifiers": ["HP:0410279", "UMLS:C5139445"], "information_content": 100.0}
{"id": "MONDO:0016331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile systemic hyalinosis", "equivalent_identifiers": ["MONDO:0016331", "orphanet:2176", "UMLS:C5574678", "SNOMEDCT:238867003", "medgen:1803732", "icd11.foundation:2089325724"], "information_content": 100.0}
{"id": "HP:0010483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amniotic constriction rings of arms", "equivalent_identifiers": ["HP:0010483", "UMLS:C4023809"], "information_content": 100.0}
{"id": "HP:5201015", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Craniofacial cleft", "equivalent_identifiers": ["HP:5201015", "UMLS:C5886881", "SNOMEDCT:764517009"], "information_content": 69.6}
{"id": "HP:0010495", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Amniotic constriction rings of legs", "equivalent_identifiers": ["HP:0010495", "UMLS:C4023804"], "information_content": 100.0}
{"id": "MONDO:0016299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly-caudal dysgenesis syndrome", "equivalent_identifiers": ["MONDO:0016299", "orphanet:2165", "UMLS:C4749731", "SNOMEDCT:771146007", "medgen:1653112"], "information_content": 100.0}
{"id": "MONDO:0018471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized eruptive keratoacanthoma", "equivalent_identifiers": ["MONDO:0018471", "orphanet:411777", "UMLS:C0345985", "SNOMEDCT:254664008", "medgen:577226"], "information_content": 100.0}
{"id": "orphanet:536545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kyphoscoliotic Ehlers-Danlos syndrome", "equivalent_identifiers": ["orphanet:536545"]}
{"id": "HP:0010727", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spontaneous rupture of the globe", "equivalent_identifiers": ["HP:0010727", "UMLS:C4023719"], "information_content": 100.0}
{"id": "HP:0010111", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Short phalanx of hallux", "equivalent_identifiers": ["HP:0010111", "UMLS:C4021334"], "information_content": 92.8}
{"id": "MONDO:0016621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile Huntington disease", "equivalent_identifiers": ["MONDO:0016621", "orphanet:248111", "UMLS:C0751208", "NCIT:C147072", "SNOMEDCT:230299004", "medgen:155518"], "information_content": 100.0}
{"id": "MONDO:0018951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal myopathy with vocal cord weakness", "equivalent_identifiers": ["MONDO:0018951", "orphanet:600", "UMLS:C1853723", "MESH:C565262", "SNOMEDCT:702383005", "medgen:342950", "icd11.foundation:1133125258"], "information_content": 100.0}
{"id": "HP:0005934", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Imperfect vocal cord adduction", "equivalent_identifiers": ["HP:0005934", "UMLS:C4025101"], "information_content": 100.0}
{"id": "HP:0040047", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal right hemidiaphragm morphology", "equivalent_identifiers": ["HP:0040047", "UMLS:C4022470"], "information_content": 95.4}
{"id": "HP:0009881", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanges of the hand", "equivalent_identifiers": ["HP:0009881", "UMLS:C4024173", "SNOMEDCT:1144465004"], "information_content": 88.2}
{"id": "HP:0010102", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the distal phalanx of the hallux", "equivalent_identifiers": ["HP:0010102", "UMLS:C4024048", "SNOMEDCT:1144679001"], "information_content": 100.0}
{"id": "HP:0010067", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/hypoplasia of the 1st metatarsal", "equivalent_identifiers": ["HP:0010067", "UMLS:C4024076"], "information_content": 95.4}
{"id": "HP:0011061", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of dental structure", "equivalent_identifiers": ["HP:0011061", "UMLS:C4023557"], "information_content": 70.6}
{"id": "HP:0010315", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the diaphragm", "equivalent_identifiers": ["HP:0010315", "UMLS:C4023910"], "information_content": 90.9}
{"id": "MONDO:0016292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular neuronal heterotopia", "equivalent_identifiers": ["MONDO:0016292", "orphanet:2149", "UMLS:C0431378", "UMLS:C5680679", "SNOMEDCT:253151003", "medgen:1842941", "icd11.foundation:143592859"], "information_content": 83.6}
{"id": "MONDO:0016291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis, Herrmann-Opitz type", "equivalent_identifiers": ["MONDO:0016291", "orphanet:2145", "UMLS:C4706536", "SNOMEDCT:763684005", "medgen:1633959", "icd11.foundation:2048918601"], "information_content": 100.0}
{"id": "MONDO:0000200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zimmermann-Laband syndrome", "equivalent_identifiers": ["MONDO:0000200", "OMIM.PS:135500", "orphanet:3473", "UMLS:C0796013", "MESH:C536725", "MEDDRA:10081859", "SNOMEDCT:699447001", "medgen:208656", "icd11.foundation:8285962"], "information_content": 90.9}
{"id": "HP:0031938", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal conus terminalis morphology", "equivalent_identifiers": ["HP:0031938", "UMLS:C4732765"], "information_content": 92.8}
{"id": "MONDO:0016561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "1q44 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016561", "orphanet:238769", "UMLS:C4304540", "SNOMEDCT:719649004", "medgen:930209"], "information_content": 100.0}
{"id": "MONDO:0017291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reversible cerebral vasoconstriction syndrome", "equivalent_identifiers": ["MONDO:0017291", "orphanet:284388", "UMLS:C3544214", "MEDDRA:10073240", "SNOMEDCT:700467001", "medgen:811291", "icd11.foundation:1474881372"], "information_content": 100.0}
{"id": "HP:0012512", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diffuse optic disc pallor", "equivalent_identifiers": ["HP:0012512", "UMLS:C4022870"], "information_content": 95.4}
{"id": "MONDO:0016468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxin-mediated infectious botulism", "equivalent_identifiers": ["MONDO:0016468", "orphanet:230800", "UMLS:C5679843", "medgen:1842703", "icd11.foundation:1373611689"], "information_content": 89.4}
{"id": "MONDO:0016281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX ovotesticular disorder of sex development", "equivalent_identifiers": ["MONDO:0016281", "orphanet:2138", "UMLS:C4288538", "UMLS:C5679613", "MESH:D050090", "NCIT:C127167", "NCIT:C127172", "SNOMEDCT:1234906009", "SNOMEDCT:18978002", "medgen:1814438"], "information_content": 100.0}
{"id": "MONDO:0016264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune hepatitis", "equivalent_identifiers": ["MONDO:0016264", "DOID:2048", "orphanet:2137", "EFO:0005676", "UMLS:C0241910", "UMLS:C1332355", "UMLS:C4721555", "MESH:D019693", "MEDDRA:10003827", "MEDDRA:10019730", "NCIT:C27029", "NCIT:C27778", "SNOMEDCT:16098491000119109", "SNOMEDCT:408335007", "medgen:1666753", "icd11.foundation:1235727122", "ICD9:571.42"], "information_content": 87.2}
{"id": "HP:0031925", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rosette", "equivalent_identifiers": ["HP:0031925", "NCIT:C35940", "UMLS:C0035863", "SNOMEDCT:12170000"], "information_content": 62.1}
{"id": "HP:0032469", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-asialoglycoprotein receptor antibody positivity", "equivalent_identifiers": ["HP:0032469", "UMLS:C5139364"], "information_content": 100.0}
{"id": "MONDO:0016256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hennekam syndrome", "equivalent_identifiers": ["MONDO:0016256", "DOID:0060366", "OMIM.PS:235510", "orphanet:2136", "UMLS:C0340834", "MESH:C537255", "SNOMEDCT:234146006", "medgen:137946"], "information_content": 90.9}
{"id": "MONDO:0017475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrodactyly of toes", "equivalent_identifiers": ["MONDO:0017475", "orphanet:295047", "UMLS:C0158768", "UMLS:C2931596", "MESH:C537719", "MEDDRA:10025385", "SNOMEDCT:4136000", "medgen:510644", "icd11.foundation:1196147958", "HP:0100747"], "information_content": 92.8}
{"id": "HP:0010165", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Enlarged epiphyses of the toes", "equivalent_identifiers": ["HP:0010165", "UMLS:C4023994"], "information_content": 79.9}
{"id": "HP:0008371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal metatarsal ossification", "equivalent_identifiers": ["HP:0008371", "UMLS:C4021543"], "information_content": 95.4}
{"id": "MONDO:0016244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome", "equivalent_identifiers": ["MONDO:0016244", "DOID:0080301", "orphanet:2134", "UMLS:C2931788", "MESH:D065766", "MEDDRA:10079840", "MEDDRA:10079841", "MEDDRA:10079842", "NCIT:C123223", "SNOMEDCT:789660001", "medgen:444141"], "information_content": 84.2}
{"id": "HP:0040229", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of thrombomodulin", "equivalent_identifiers": ["HP:0040229", "UMLS:C4255334"], "information_content": 100.0}
{"id": "MONDO:0016372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glossopharyngeal neuralgia", "equivalent_identifiers": ["MONDO:0016372", "DOID:14423", "orphanet:221098", "UMLS:C0154731", "MEDDRA:10018391", "SNOMEDCT:43763009", "medgen:57595", "ICD10:G52.1", "ICD9:352.1"], "information_content": 100.0}
{"id": "MONDO:0016243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin E disease", "equivalent_identifiers": ["MONDO:0016243", "DOID:5379", "orphanet:2133", "UMLS:C0238159", "MEDDRA:10053215", "MEDDRA:10053224", "MEDDRA:10055597", "MEDDRA:10055613", "NCIT:C35287", "SNOMEDCT:25065001", "medgen:68658", "icd11.foundation:1898135714"], "information_content": 100.0}
{"id": "HP:0004817", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Drug-sensitive hemolytic anemia", "equivalent_identifiers": ["HP:0004817", "UMLS:C4025289"], "information_content": 100.0}
{"id": "MONDO:0016241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating hemiplegia of childhood", "equivalent_identifiers": ["MONDO:0016241", "DOID:0050635", "OMIM.PS:104290", "orphanet:2131", "UMLS:C0338488", "MESH:C536589", "MEDDRA:10077948", "NCIT:C35261", "SNOMEDCT:230466004", "medgen:90925", "icd11.foundation:301329822", "ICD10:G98"], "information_content": 89.4}
{"id": "MONDO:0011555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome", "equivalent_identifiers": ["MONDO:0011555", "OMIM.PS:605432", "orphanet:71289", "UMLS:C1854273", "UMLS:C4303670", "MESH:C565328", "SNOMEDCT:721882001", "medgen:340183"], "information_content": 92.8}
{"id": "MONDO:0018105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram syndrome", "equivalent_identifiers": ["MONDO:0018105", "DOID:10632", "orphanet:3463", "UMLS:C0043207", "MESH:D014929", "MEDDRA:10078338", "MEDDRA:10078339", "NCIT:C35133", "SNOMEDCT:70694009", "medgen:21923", "icd11.foundation:151381747"], "information_content": 90.9}
{"id": "MONDO:0018106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthinuria", "equivalent_identifiers": ["MONDO:0018106", "DOID:0060236", "OMIM.PS:278300", "orphanet:3467", "UMLS:C5779508", "SNOMEDCT:54627004", "medgen:1830243", "ICD10:E79.8"], "information_content": 92.8}
{"id": "MONDO:0016290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hernández-Aguirre Negrete syndrome", "equivalent_identifiers": ["MONDO:0016290", "orphanet:2139", "UMLS:C2931736", "MESH:C538112", "SNOMEDCT:721146009", "medgen:419481"], "information_content": 100.0}
{"id": "MONDO:0017474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrodactyly of fingers", "equivalent_identifiers": ["MONDO:0017474", "orphanet:295044", "UMLS:C0158763", "UMLS:C0574044", "MESH:C537720", "MEDDRA:10025384", "SNOMEDCT:297195000", "SNOMEDCT:69381005", "medgen:107892", "icd11.foundation:1647254435", "HP:0100746"], "information_content": 92.8}
{"id": "HP:0004276", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exostoses of hand bones", "equivalent_identifiers": ["HP:0004276", "UMLS:C4025375"], "information_content": 100.0}
{"id": "MONDO:0043982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cubital tunnel syndrome", "equivalent_identifiers": ["MONDO:0043982", "EFO:1001301", "UMLS:C0206239", "UMLS:C4023008", "MESH:D020430", "MEDDRA:10056473", "SNOMEDCT:230631009", "SNOMEDCT:56177003", "medgen:104813", "HP:0012186"], "information_content": 100.0}
{"id": "MONDO:0016238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "solitary fibrous tumor", "equivalent_identifiers": ["MONDO:0016238", "orphanet:2126", "UMLS:C1266119", "MESH:D054364", "MEDDRA:10024773", "MEDDRA:10062468", "MEDDRA:10082804", "MEDDRA:10082807", "NCIT:C7634", "medgen:224764"], "information_content": 77.3}
{"id": "MONDO:0017471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital patella dislocation", "equivalent_identifiers": ["MONDO:0017471", "orphanet:295036", "UMLS:C0345360", "MESH:C538081", "SNOMEDCT:205067002", "medgen:91041", "icd11.foundation:1383302301"], "information_content": 92.8}
{"id": "HP:0009787", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the quadriceps", "equivalent_identifiers": ["HP:0009787", "UMLS:C4024206"], "information_content": 95.4}
{"id": "MONDO:0016237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse neonatal hemangiomatosis", "equivalent_identifiers": ["MONDO:0016237", "orphanet:2123", "UMLS:C0474965", "SNOMEDCT:254782003", "medgen:96888"], "information_content": 100.0}
{"id": "MONDO:0016236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kaposiform hemangioendothelioma", "equivalent_identifiers": ["MONDO:0016236", "orphanet:2122", "UMLS:C1367420", "MESH:C537007", "MEDDRA:10087551", "MEDDRA:10087552", "NCIT:C27510", "SNOMEDCT:403983000", "medgen:234548"], "information_content": 95.4}
{"id": "MONDO:0005116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Whipple disease", "equivalent_identifiers": ["MONDO:0005116", "DOID:8476", "orphanet:3452", "EFO:0000775", "UMLS:C0023788", "MESH:D008061", "MEDDRA:10047931", "MEDDRA:10047933", "NCIT:C85228", "SNOMEDCT:41545003", "medgen:7347", "icd11.foundation:1131038233", "ICD10:K90.81", "ICD9:040.2"], "information_content": 100.0}
{"id": "HP:0030265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wide penis", "equivalent_identifiers": ["HP:0030265", "UMLS:C4022551"], "information_content": 100.0}
{"id": "orphanet:447788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cerebral visual impairment", "equivalent_identifiers": ["orphanet:447788"]}
{"id": "MONDO:0015171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital enterocyte heparan sulfate deficiency", "equivalent_identifiers": ["MONDO:0015171", "orphanet:103910", "UMLS:C4511238", "SNOMEDCT:725591002", "medgen:1373054"], "information_content": 100.0}
{"id": "MONDO:0019104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandifer syndrome", "equivalent_identifiers": ["MONDO:0019104", "orphanet:71272", "UMLS:C0338465", "MESH:C537234", "MEDDRA:10066142", "NCIT:C113397", "SNOMEDCT:230314007", "medgen:90922"], "information_content": 100.0}
{"id": "MONDO:0019105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal nutcracker syndrome", "equivalent_identifiers": ["MONDO:0019105", "orphanet:71273", "EFO:1001838", "UMLS:C3178770", "MESH:D059228", "SNOMEDCT:717267005", "medgen:465238"], "information_content": 100.0}
{"id": "MONDO:0021642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulval varices", "equivalent_identifiers": ["MONDO:0021642", "UMLS:C0155796", "MEDDRA:10047028", "MEDDRA:10047769", "SNOMEDCT:48868008", "medgen:510083", "icd11.foundation:53329171", "HP:0100677"], "information_content": 100.0}
{"id": "HP:0030620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Inner retinal layer loss on macular OCT", "equivalent_identifiers": ["HP:0030620", "UMLS:C4073090"], "information_content": 100.0}
{"id": "MONDO:0016370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marchiafava-Bignami disease", "equivalent_identifiers": ["MONDO:0016370", "orphanet:221074", "EFO:1001809", "UMLS:C0238265", "MESH:D054319", "MEDDRA:10026828", "NCIT:C197857", "SNOMEDCT:386766007", "medgen:65955", "icd11.foundation:1694687314"], "information_content": 100.0}
{"id": "HP:0005236", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic calcifying pancreatitis", "equivalent_identifiers": ["HP:0005236", "UMLS:C4025231"], "information_content": 100.0}
{"id": "HP:6000130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urinary indican level", "equivalent_identifiers": ["HP:6000130", "UMLS:C5936985"], "information_content": 100.0}
{"id": "MONDO:0018095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weaver-Williams syndrome", "equivalent_identifiers": ["MONDO:0018095", "orphanet:3448", "UMLS:C0796198", "SNOMEDCT:726670008", "medgen:1392915"], "information_content": 100.0}
{"id": "MONDO:0010993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Harrod syndrome", "equivalent_identifiers": ["MONDO:0010993", "OMIM:601095", "orphanet:2115", "UMLS:C0795970", "MESH:C535635", "SNOMEDCT:716089008", "medgen:162895"], "information_content": 100.0}
{"id": "MONDO:0018096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weill-Marchesani syndrome", "equivalent_identifiers": ["MONDO:0018096", "DOID:0050475", "OMIM.PS:277600", "orphanet:3449", "UMLS:C0265313", "MESH:D056846", "MEDDRA:10064963", "NCIT:C85226", "SNOMEDCT:2884008", "medgen:82705"], "information_content": 89.4}
{"id": "MONDO:0023275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Graham-Boyle-Troxell syndrome", "equivalent_identifiers": ["MONDO:0023275", "orphanet:2111", "UMLS:C2931468", "MESH:C537292", "SNOMEDCT:707530009", "medgen:444062"], "information_content": 100.0}
{"id": "MONDO:0018476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia-aphonia syndrome", "equivalent_identifiers": ["MONDO:0018476", "orphanet:412217", "UMLS:C5190573", "SNOMEDCT:782718007", "medgen:1675660"], "information_content": 100.0}
{"id": "MONDO:0018094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome", "equivalent_identifiers": ["MONDO:0018094", "DOID:9258", "OMIM.PS:193500", "orphanet:3440", "UMLS:C3266898", "MESH:D014849", "MEDDRA:10069203", "NCIT:C85222", "SNOMEDCT:47434006", "SNOMEDCT:715952000", "medgen:473809", "icd11.foundation:304883627"], "information_content": 82.6}
{"id": "HP:0100811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the colon", "equivalent_identifiers": ["HP:0100811", "UMLS:C4021964"], "information_content": 88.2}
{"id": "MONDO:0019102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0019102", "orphanet:71267", "UMLS:C4303592", "SNOMEDCT:721089006", "medgen:929261"], "information_content": 100.0}
{"id": "HP:0008277", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal blood zinc concentration", "equivalent_identifiers": ["HP:0008277", "UMLS:C4020802", "UMLS:C4024711"], "information_content": 92.8}
{"id": "HP:0032098", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomanganesemia", "equivalent_identifiers": ["HP:0032098", "UMLS:C5139129"], "information_content": 100.0}
{"id": "HP:0020191", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior predominant thick cortex pachygyria", "equivalent_identifiers": ["HP:0020191", "UMLS:C5209273"], "information_content": 100.0}
{"id": "HP:0020189", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Posterior predominant thick cortex pachygyria", "equivalent_identifiers": ["HP:0020189", "UMLS:C5209271"], "information_content": 100.0}
{"id": "MONDO:0018644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant complex spastic paraplegia type 9B", "equivalent_identifiers": ["MONDO:0018644", "orphanet:447757", "UMLS:C5568979", "SNOMEDCT:1187466009", "medgen:1800402"], "information_content": 100.0}
{"id": "HP:0031606", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Retinal cotton wool spot", "equivalent_identifiers": ["HP:0031606"], "information_content": 95.4}
{"id": "HP:0040328", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal hyperintensity of cerebral white matter on MRI", "equivalent_identifiers": ["HP:0040328", "UMLS:C4703610"], "information_content": 100.0}
{"id": "MONDO:0015169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic diarrhea due to glucoamylase deficiency", "equivalent_identifiers": ["MONDO:0015169", "orphanet:103907", "UMLS:C4275068", "SNOMEDCT:716277000", "medgen:898614", "icd11.foundation:2084206046"], "information_content": 100.0}
{"id": "MONDO:0018092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vogt-Koyanagi-Harada disease", "equivalent_identifiers": ["MONDO:0018092", "DOID:12297", "orphanet:3437", "UMLS:C0042170", "MESH:D014607", "MEDDRA:10019155", "MEDDRA:10047679", "MEDDRA:10047680", "MEDDRA:10082001", "NCIT:C85218", "SNOMEDCT:193497004", "medgen:22599", "ICD10:H20.82", "ICD9:364.24"], "information_content": 100.0}
{"id": "MONDO:0016219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysmorphism-pectus carinatum-joint laxity syndrome", "equivalent_identifiers": ["MONDO:0016219", "orphanet:2104", "UMLS:C4518558", "SNOMEDCT:733038005", "medgen:1385827"], "information_content": 100.0}
{"id": "MONDO:0009313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Grubben-de Cock-Borghgraef syndrome", "equivalent_identifiers": ["MONDO:0009313", "OMIM:233810", "orphanet:2101", "UMLS:C1856242", "UMLS:C2931551", "MESH:C537621", "MESH:C565528", "SNOMEDCT:763186006", "medgen:419108"], "information_content": 100.0}
{"id": "MONDO:0018091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-brachydactyly-kyphoscoliosis syndrome", "equivalent_identifiers": ["MONDO:0018091", "orphanet:3433", "UMLS:C2931177", "MESH:C536349", "SNOMEDCT:719378009", "medgen:419731"], "information_content": 100.0}
{"id": "MONDO:0019108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silent sinus syndrome", "equivalent_identifiers": ["MONDO:0019108", "orphanet:71276", "UMLS:C3698095", "MEDDRA:10075540", "SNOMEDCT:699802009", "medgen:785359", "icd11.foundation:1204931989"], "information_content": 100.0}
{"id": "MONDO:0019209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Japanese encephalitis", "equivalent_identifiers": ["MONDO:0019209", "DOID:10844", "orphanet:79139", "EFO:0007332", "UMLS:C0014057", "MESH:D004672", "MEDDRA:10014596", "MEDDRA:10023119", "MEDDRA:10023120", "MEDDRA:10023123", "NCIT:C34577", "SNOMEDCT:52947006", "medgen:4032", "icd11.foundation:961032639", "ICD10:A83.0", "ICD9:062.0"], "information_content": 100.0}
{"id": "HP:0030826", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eyelid fasciculation", "equivalent_identifiers": ["HP:0030826", "UMLS:C4280682"], "information_content": 100.0}
{"id": "MONDO:0018204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "20q11.2 microduplication syndrome", "equivalent_identifiers": ["MONDO:0018204", "orphanet:363659", "UMLS:C4706257", "SNOMEDCT:763061004", "medgen:1639138"], "information_content": 100.0}
{"id": "HP:0033118", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal right ventricular function", "equivalent_identifiers": ["HP:0033118", "UMLS:C5421624"], "information_content": 85.5}
{"id": "MONDO:0019210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous neuroendocrine carcinoma", "equivalent_identifiers": ["MONDO:0019210", "orphanet:79140", "EFO:1001471", "UMLS:C0007129", "MESH:D015266", "MEDDRA:10029266", "MEDDRA:10064025", "NCIT:C9231", "SNOMEDCT:253001006", "SNOMEDCT:254729005", "SNOMEDCT:5052009", "medgen:2843", "icd11.foundation:680322043", "HP:0030447"], "information_content": 74.5}
{"id": "HP:0040095", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neoplasm of the outer ear", "equivalent_identifiers": ["HP:0040095", "UMLS:C4022443"], "information_content": 90.9}
{"id": "MONDO:0015573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subacute cutaneous lupus erythematosus", "equivalent_identifiers": ["MONDO:0015573", "orphanet:163525", "UMLS:C0024140", "MEDDRA:10057903", "NCIT:C117111", "SNOMEDCT:239891002", "medgen:7403", "icd11.foundation:192274757"], "information_content": 100.0}
{"id": "HP:0033558", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-histone antibody positivity", "equivalent_identifiers": ["HP:0033558", "UMLS:C5539683"], "information_content": 86.3}
{"id": "MONDO:0018469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary non-tuberculous mycobacterial infection", "equivalent_identifiers": ["MONDO:0018469", "orphanet:411703", "UMLS:C3472679", "SNOMEDCT:1731000119106", "medgen:758704", "icd11.foundation:1798822437"], "information_content": 100.0}
{"id": "HP:0032130", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mycobacterium abscessus abscessus infection", "equivalent_identifiers": ["HP:0032130", "UMLS:C5139150"], "information_content": 100.0}
{"id": "HP:0030805", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Absent lunula", "equivalent_identifiers": ["HP:0030805", "UMLS:C4280758"], "information_content": 100.0}
{"id": "HP:0005918", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal finger phalanx morphology", "equivalent_identifiers": ["HP:0005918", "UMLS:C4021614"], "information_content": 56.3}
{"id": "HP:0012710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ingrown nail", "equivalent_identifiers": ["HP:0012710", "NCIT:C34836", "UMLS:C0027343", "UMLS:C5887332", "MEDDRA:10022013", "MEDDRA:10022014", "MEDDRA:10022015", "MEDDRA:10048457", "MEDDRA:10059822", "MEDDRA:10090684", "SNOMEDCT:400097005", "SNOMEDCT:400200009", "MESH:D009263"], "information_content": 100.0}
{"id": "HP:0012855", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scrotal hyperpigmentation", "equivalent_identifiers": ["HP:0012855", "UMLS:C4021062"], "information_content": 100.0}
{"id": "MONDO:0001470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal margin squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0001470", "DOID:12239", "UMLS:C1412037", "NCIT:C6925", "SNOMEDCT:255084004", "medgen:278071", "ICD10:C44.520", "HP:0030442"], "information_content": 95.4}
{"id": "HP:0025164", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased number of elastic fibers in the dermis", "equivalent_identifiers": ["HP:0025164", "UMLS:C4476629"], "information_content": 100.0}
{"id": "HP:0031512", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cutaneous collagen fibril morphology", "equivalent_identifiers": ["HP:0031512", "UMLS:C4531073"], "information_content": 86.3}
{"id": "MONDO:0010925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "velo-facial-skeletal syndrome", "equivalent_identifiers": ["MONDO:0010925", "OMIM:600736", "orphanet:3424", "UMLS:C1833380", "MESH:C536536", "SNOMEDCT:763616002", "medgen:322177"], "information_content": 100.0}
{"id": "MONDO:0019205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichodysplasia-amelogenesis imperfecta syndrome", "equivalent_identifiers": ["MONDO:0019205", "orphanet:79129", "UMLS:C4304344", "SNOMEDCT:719911000", "medgen:930013"], "information_content": 100.0}
{"id": "MONDO:0031037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "famililal cerebral cavernous malformations", "equivalent_identifiers": ["MONDO:0031037", "OMIM.PS:116860", "orphanet:221061", "UMLS:C2931263", "MESH:C536610", "SNOMEDCT:717003001", "medgen:419031"], "information_content": 88.2}
{"id": "HP:0012749", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Focal T2 hypointense brainstem lesion", "equivalent_identifiers": ["HP:0012749", "UMLS:C4022747"], "information_content": 100.0}
{"id": "MONDO:0021281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cavernous hemangioma of retina", "equivalent_identifiers": ["MONDO:0021281", "UMLS:C0730304", "NCIT:C4921", "SNOMEDCT:312937006", "medgen:152678", "HP:0011513"], "information_content": 100.0}
{"id": "HP:0012814", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bilateral breast hypoplasia", "equivalent_identifiers": ["HP:0012814", "UMLS:C4022716"], "information_content": 100.0}
{"id": "MONDO:0019207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DEND syndrome", "equivalent_identifiers": ["MONDO:0019207", "orphanet:79134", "UMLS:C4303593", "NCIT:C131845", "SNOMEDCT:721088003", "medgen:929262"], "information_content": 90.9}
{"id": "MONDO:0008636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "double uterus-hemivagina-renal agenesis syndrome", "equivalent_identifiers": ["MONDO:0008636", "OMIM:192050", "orphanet:3411", "UMLS:C1860549", "MESH:C566010", "SNOMEDCT:722431007", "medgen:348132"], "information_content": 100.0}
{"id": "HP:0008670", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partial vaginal septum", "equivalent_identifiers": ["HP:0008670", "UMLS:C0750088"], "information_content": 100.0}
{"id": "HP:0030711", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hydrocolpos", "equivalent_identifiers": ["HP:0030711", "UMLS:C1399870", "MESH:D052202"], "information_content": 100.0}
{"id": "MONDO:0019208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bickerstaff brainstem encephalitis", "equivalent_identifiers": ["MONDO:0019208", "orphanet:79138", "UMLS:C1960543", "MEDDRA:10076985", "MEDDRA:10077247", "SNOMEDCT:427086003", "medgen:743311", "icd11.foundation:163316971"], "information_content": 100.0}
{"id": "MONDO:0018591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ITM2B amyloidosis", "equivalent_identifiers": ["MONDO:0018591", "orphanet:439254", "UMLS:C0268393", "MESH:D028243", "SNOMEDCT:45639009", "medgen:82800", "icd11.foundation:503091580"], "information_content": 92.8}
{"id": "MONDO:0018696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticobasal syndrome", "equivalent_identifiers": ["MONDO:0018696", "DOID:0081392", "orphanet:454887", "UMLS:C5575119", "SNOMEDCT:1230018005", "medgen:1801322"], "information_content": 100.0}
{"id": "MONDO:0009963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ulbright-Hodes syndrome", "equivalent_identifiers": ["MONDO:0009963", "OMIM:266910", "orphanet:3404", "UMLS:C1849438", "MESH:C537754", "SNOMEDCT:719840003", "medgen:376585"], "information_content": 100.0}
{"id": "MONDO:0018085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "umbilical cord ulceration-intestinal atresia syndrome", "equivalent_identifiers": ["MONDO:0018085", "orphanet:3405", "UMLS:C2931371", "MESH:C536938", "medgen:419062"], "information_content": 100.0}
{"id": "MONDO:0018086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulerythema ophryogenesis", "equivalent_identifiers": ["MONDO:0018086", "orphanet:3406", "UMLS:C5700076", "medgen:1813086"], "information_content": 100.0}
{"id": "MONDO:0005480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contact dermatitis", "equivalent_identifiers": ["MONDO:0005480", "DOID:2773", "EFO:0005319", "UMLS:C0011616", "MESH:D003877", "MEDDRA:10010790", "MEDDRA:10010803", "MEDDRA:10012442", "MEDDRA:10012492", "MEDDRA:10058308", "MEDDRA:10087729", "NCIT:C26743", "SNOMEDCT:40275004", "medgen:8329", "ICD10:L25.9", "HP:0032282"], "information_content": 84.8}
{"id": "MONDO:0009905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urban-Rogers-Meyer syndrome", "equivalent_identifiers": ["MONDO:0009905", "OMIM:264010", "orphanet:3409", "UMLS:C0796189", "MESH:C538276", "SNOMEDCT:716334004", "medgen:162919"], "information_content": 100.0}
{"id": "MONDO:0018460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eales disease", "equivalent_identifiers": ["MONDO:0018460", "orphanet:40923", "UMLS:C0271073", "MESH:C538011", "MEDDRA:10057429", "SNOMEDCT:54122009", "medgen:75733", "icd11.foundation:945788847"], "information_content": 100.0}
{"id": "MONDO:0001855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rubeosis iridis", "equivalent_identifiers": ["MONDO:0001855", "DOID:14000", "UMLS:C0154916", "MEDDRA:10039291", "MEDDRA:10065627", "MEDDRA:10065630", "SNOMEDCT:51995000", "medgen:488789", "ICD10:H21.1", "ICD9:364.42", "HP:0011497"], "information_content": 100.0}
{"id": "HP:0030652", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vitreous haze", "equivalent_identifiers": ["HP:0030652", "UMLS:C4073113", "MEDDRA:10077514"], "information_content": 100.0}
{"id": "HP:0025239", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Subhyaloid hemorrhage", "equivalent_identifiers": ["HP:0025239", "UMLS:C0271048", "MEDDRA:10059280", "MEDDRA:10059288", "SNOMEDCT:247098001"], "information_content": 100.0}
{"id": "MONDO:0018082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aorto-ventricular tunnel", "equivalent_identifiers": ["MONDO:0018082", "orphanet:3400", "UMLS:C4023262", "MESH:D000082903", "medgen:868852", "HP:0011627"], "information_content": 92.8}
{"id": "MONDO:0019203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute interstitial pneumonia", "equivalent_identifiers": ["MONDO:0019203", "DOID:2800", "orphanet:79126", "UMLS:C0085786", "UMLS:C1279945", "MESH:D000080203", "MEDDRA:10019107", "MEDDRA:10021225", "MEDDRA:10066728", "MEDDRA:10078268", "NCIT:C35806", "SNOMEDCT:236302005", "medgen:39340", "icd11.foundation:2116884221", "ICD9:516.33"], "information_content": 100.0}
{"id": "MONDO:0018084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uhl anomaly", "equivalent_identifiers": ["MONDO:0018084", "orphanet:3403", "UMLS:C0265857", "MESH:C536932", "MEDDRA:10048951", "SNOMEDCT:2829000", "medgen:78576", "HP:0011724"], "information_content": 100.0}
{"id": "HP:0031316", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ventricular myocardium morphology", "equivalent_identifiers": ["HP:0031316", "UMLS:C4531205"], "information_content": 100.0}
{"id": "HP:0033138", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right atrial thrombus", "equivalent_identifiers": ["HP:0033138", "NCIT:C114849", "UMLS:C0748428", "SNOMEDCT:473359008"], "information_content": 100.0}
{"id": "HP:0034330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Regional right ventricular hypokinesis", "equivalent_identifiers": ["HP:0034330", "UMLS:C5706174"], "information_content": 95.4}
{"id": "HP:6000667", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Right ventricular aneurysm", "equivalent_identifiers": ["HP:6000667", "UMLS:C2063380", "SNOMEDCT:445440001"], "information_content": 100.0}
{"id": "MONDO:0019204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RB-ILD", "equivalent_identifiers": ["MONDO:0019204", "orphanet:79127", "UMLS:C1735355", "MEDDRA:10066394", "medgen:1672485", "icd11.foundation:822500243"], "information_content": 100.0}
{"id": "MONDO:0000903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonus-dystonia syndrome", "equivalent_identifiers": ["MONDO:0000903", "DOID:0090033", "orphanet:36899", "MESH:C536096", "SNOMEDCT:439732004"], "information_content": 90.9}
{"id": "HP:0010531", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spinal myoclonus", "equivalent_identifiers": ["HP:0010531", "UMLS:C3697670", "SNOMEDCT:698836007"], "information_content": 100.0}
{"id": "MONDO:0017968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY ovotesticular disorder of sex development", "equivalent_identifiers": ["MONDO:0017968", "orphanet:325345", "UMLS:C2697358", "NCIT:C127173", "SNOMEDCT:763683004", "medgen:394582"], "information_content": 100.0}
{"id": "HP:0030258", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperpigmented genitalia", "equivalent_identifiers": ["HP:0030258", "UMLS:C4020713", "UMLS:C4022554"], "information_content": 100.0}
{"id": "MONDO:0015718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 12", "equivalent_identifiers": ["MONDO:0015718", "orphanet:1698", "UMLS:C4706889", "SNOMEDCT:764463001", "medgen:1631133"], "information_content": 100.0}
{"id": "HP:6000010", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Linear Hyperpigmentation along Blaschko's lines", "equivalent_identifiers": ["HP:6000010", "UMLS:C5936906"], "information_content": 100.0}
{"id": "MONDO:0021651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synpolydactyly", "equivalent_identifiers": ["MONDO:0021651", "orphanet:93403", "UMLS:C0265553", "UMLS:C2699746", "MESH:C538153", "MEDDRA:10063143", "NCIT:C125597", "NCIT:C75003", "SNOMEDCT:715724002", "SNOMEDCT:84598000", "medgen:437845"], "information_content": 86.3}
{"id": "MONDO:0015712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-distal trisomy 10q", "equivalent_identifiers": ["MONDO:0015712", "orphanet:1695", "UMLS:C4749376", "SNOMEDCT:770666006", "medgen:1664181"], "information_content": 100.0}
{"id": "MONDO:0015706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 1", "equivalent_identifiers": ["MONDO:0015706", "orphanet:1692", "UMLS:C5394675", "SNOMEDCT:829974003", "medgen:1709039"], "information_content": 100.0}
{"id": "HP:0100839", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hepatic agenesis", "equivalent_identifiers": ["HP:0100839", "UMLS:C0266258", "SNOMEDCT:1003514000", "SNOMEDCT:3650004"], "information_content": 100.0}
{"id": "MONDO:0005091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe acute respiratory syndrome", "equivalent_identifiers": ["MONDO:0005091", "DOID:2945", "orphanet:140896", "EFO:0000694", "UMLS:C1175175", "MESH:D045169", "MEDDRA:10061982", "MEDDRA:10061986", "MEDDRA:10084784", "NCIT:C85064", "SNOMEDCT:398447004", "medgen:262817", "icd11.foundation:652944603", "ICD10:J12.81", "ICD9:079.82"], "information_content": 100.0}
{"id": "HP:0100483", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal", "equivalent_identifiers": ["HP:0100483", "UMLS:C4022048"], "information_content": 100.0}
{"id": "HP:0010359", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the 3rd toe", "equivalent_identifiers": ["HP:0010359", "UMLS:C4023882"], "information_content": 83.6}
{"id": "HP:0010371", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the 4th toe", "equivalent_identifiers": ["HP:0010371", "UMLS:C4023875"], "information_content": 83.6}
{"id": "HP:0010383", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the phalanges of the 5th toe", "equivalent_identifiers": ["HP:0010383", "UMLS:C4023867"], "information_content": 83.6}
{"id": "HP:0010413", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the distal phalanx of the 2nd toe", "equivalent_identifiers": ["HP:0010413", "UMLS:C4023843"], "information_content": 92.8}
{"id": "MONDO:0015723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 12p", "equivalent_identifiers": ["MONDO:0015723", "orphanet:1699", "UMLS:C0795845", "MESH:C538299", "medgen:162880"], "information_content": 100.0}
{"id": "MONDO:0019682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital sialidosis type 2", "equivalent_identifiers": ["MONDO:0019682", "orphanet:93400", "UMLS:C0268231", "UMLS:C5681599", "SNOMEDCT:27642008", "medgen:1843300", "icd11.foundation:1994237121"], "information_content": 100.0}
{"id": "MONDO:0018870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial calcification of infancy", "equivalent_identifiers": ["MONDO:0018870", "DOID:0050644", "OMIM.PS:208000", "orphanet:51608", "UMLS:C1859727", "MESH:C537440", "medgen:395331"], "information_content": 92.8}
{"id": "HP:0000630", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal retinal artery morphology", "equivalent_identifiers": ["HP:0000630", "UMLS:C4021802"], "information_content": 81.7}
{"id": "HP:0003836", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stippled calcification of the shoulder", "equivalent_identifiers": ["HP:0003836", "UMLS:C4025562"], "information_content": 100.0}
{"id": "HP:0003941", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stippled calcification of the elbow", "equivalent_identifiers": ["HP:0003941", "UMLS:C4025493"], "information_content": 100.0}
{"id": "HP:0012409", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical nephrocalcinosis", "equivalent_identifiers": ["HP:0012409", "UMLS:C0403476", "SNOMEDCT:236446001"], "information_content": 100.0}
{"id": "HP:0011628", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital defect of the pericardium", "equivalent_identifiers": ["HP:0011628", "UMLS:C4023261"], "information_content": 85.5}
{"id": "orphanet:221016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rothmund-Thomson syndrome type 2", "equivalent_identifiers": ["orphanet:221016"]}
{"id": "HP:0100238", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Synostosis involving bones of the upper limbs", "equivalent_identifiers": ["HP:0100238", "UMLS:C4022184"], "information_content": 73.0}
{"id": "MONDO:0015672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diprosopus", "equivalent_identifiers": ["MONDO:0015672", "orphanet:1681", "UMLS:C0266731", "SNOMEDCT:62192003", "medgen:540123"], "information_content": 100.0}
{"id": "MONDO:0015663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diencephalic syndrome", "equivalent_identifiers": ["MONDO:0015663", "orphanet:1672", "UMLS:C0271889", "UMLS:C0342436", "MEDDRA:10012774", "MEDDRA:10087520", "NCIT:C116955", "SNOMEDCT:237733001", "SNOMEDCT:45740001", "medgen:90981", "icd11.foundation:879659089"], "information_content": 100.0}
{"id": "HP:0100563", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diastomatomyelia", "equivalent_identifiers": ["HP:0100563", "UMLS:C4022023"], "information_content": 100.0}
{"id": "MONDO:0019101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal capillary malformation", "equivalent_identifiers": ["MONDO:0019101", "orphanet:71213"], "information_content": 100.0}
{"id": "MONDO:0019100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuromyelitis optica", "equivalent_identifiers": ["MONDO:0019100", "DOID:8869", "orphanet:71211", "EFO:0004256", "EFO:0020919", "UMLS:C0027873", "UMLS:C0221059", "MESH:D009471", "MEDDRA:10012574", "MEDDRA:10029322", "MEDDRA:10041225", "MEDDRA:10052887", "MEDDRA:10058009", "MEDDRA:10077875", "NCIT:C84934", "SNOMEDCT:25044007", "medgen:45063", "icd11.foundation:744293382", "ICD10:G36.0", "ICD9:341.0"], "information_content": 90.9}
{"id": "MONDO:0015666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial idiopathic dilatation of the right atrium", "equivalent_identifiers": ["MONDO:0015666", "orphanet:1677", "UMLS:C4274283", "SNOMEDCT:716773002", "medgen:901482"], "information_content": 100.0}
{"id": "HP:0031665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Midsystolic murmur", "equivalent_identifiers": ["HP:0031665", "UMLS:C0232259", "MEDDRA:10050130", "SNOMEDCT:68494000"], "information_content": 100.0}
{"id": "MONDO:0015660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sporadic fetal brain disruption sequence", "equivalent_identifiers": ["MONDO:0015660", "orphanet:1665", "UMLS:C4706553", "SNOMEDCT:763717004", "medgen:1636968"], "information_content": 95.4}
{"id": "HP:0010967", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating carnitine concentration", "equivalent_identifiers": ["HP:0010967", "UMLS:C4020761", "UMLS:C4021855", "UMLS:C5139053"], "information_content": 86.3}
{"id": "MONDO:0031213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restrictive dermopathy", "equivalent_identifiers": ["MONDO:0031213", "DOID:0060762", "OMIM.PS:275210", "orphanet:1662", "UMLS:C0406585", "medgen:98356"], "information_content": 92.8}
{"id": "MONDO:0017579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Baraitser-Winter cerebrofrontofacial syndrome", "equivalent_identifiers": ["MONDO:0017579", "DOID:0060229", "OMIM.PS:243310", "orphanet:2995", "UMLS:C1853623", "MESH:C565258", "SNOMEDCT:702410002", "medgen:340016"], "information_content": 92.8}
{"id": "HP:0011615", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal pulmonary situs morphology", "equivalent_identifiers": ["HP:0011615", "UMLS:C4023271"], "information_content": 84.8}
{"id": "HP:0011620", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of abdominal situs", "equivalent_identifiers": ["HP:0011620", "UMLS:C4023266"], "information_content": 92.8}
{"id": "HP:0008771", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the ear", "equivalent_identifiers": ["HP:0008771", "UMLS:C4024627"], "information_content": 79.6}
{"id": "MONDO:0015612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dent disease", "equivalent_identifiers": ["MONDO:0015612", "DOID:0050699", "OMIM.PS:300009", "orphanet:1652", "UMLS:C0878681", "MESH:D057973", "MEDDRA:10069199", "NCIT:C123260", "SNOMEDCT:444645005", "medgen:168056", "icd11.foundation:1762998355"], "information_content": 92.8}
{"id": "MONDO:0010835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pterygium colli-intellectual disability-digital anomalies syndrome", "equivalent_identifiers": ["MONDO:0010835", "OMIM:600159", "orphanet:2988", "UMLS:C1838562", "MESH:C535831", "SNOMEDCT:719256004", "medgen:374001"], "information_content": 100.0}
{"id": "HP:0009662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of the epiphysis of the distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009662", "UMLS:C4021410"], "information_content": 83.1}
{"id": "MONDO:0018203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LMNA-related cardiocutaneous progeria syndrome", "equivalent_identifiers": ["MONDO:0018203", "orphanet:363618", "UMLS:C4750858", "SNOMEDCT:773426004", "medgen:1667690"], "information_content": 100.0}
{"id": "MONDO:0019212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disseminated superficial actinic porokeratosis", "equivalent_identifiers": ["MONDO:0019212", "orphanet:79152", "UMLS:C0265970", "MEDDRA:10085766", "SNOMEDCT:41495000", "medgen:120561", "icd11.foundation:1828294192"], "information_content": 86.3}
{"id": "MONDO:0009920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrootoocular syndrome", "equivalent_identifiers": ["MONDO:0009920", "OMIM:264475", "orphanet:2980", "UMLS:C1849661", "MESH:C564866", "SNOMEDCT:720410001", "medgen:337882"], "information_content": 100.0}
{"id": "MONDO:0010824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disorder of sex development-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010824", "OMIM:600122", "orphanet:2983", "UMLS:C1838611", "UMLS:C2931233", "MESH:C535693", "MESH:C536539", "SNOMEDCT:719450007", "medgen:325469"], "information_content": 100.0}
{"id": "MONDO:0009095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatoosteolysis, Kirghizian type", "equivalent_identifiers": ["MONDO:0009095", "OMIM:221810", "orphanet:1657", "UMLS:C1857301", "MESH:C535373", "SNOMEDCT:721090002", "medgen:341742", "icd11.foundation:2019080941"], "information_content": 100.0}
{"id": "MONDO:0015614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatitis herpetiformis", "equivalent_identifiers": ["MONDO:0015614", "DOID:8505", "orphanet:1656", "EFO:1000684", "UMLS:C0011608", "MESH:D003874", "MEDDRA:10012468", "NCIT:C26742", "SNOMEDCT:111196000", "medgen:8327", "icd11.foundation:286313127", "ICD10:L13.0", "ICD9:694.0"], "information_content": 92.8}
{"id": "HP:0033565", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-epidermal transglutaminase antibody positivity", "equivalent_identifiers": ["HP:0033565", "UMLS:C5539689"], "information_content": 100.0}
{"id": "HP:4000026", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-transglutaminase 6 antibody", "equivalent_identifiers": ["HP:4000026", "UMLS:C5539875"], "information_content": 100.0}
{"id": "HP:4000029", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antigliadin antibody positivity", "equivalent_identifiers": ["HP:4000029", "UMLS:C5539878"], "information_content": 100.0}
{"id": "MONDO:0008694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoprogeria syndrome", "equivalent_identifiers": ["MONDO:0008694", "OMIM:200130", "orphanet:2985", "UMLS:C0796125", "MESH:C563111", "SNOMEDCT:733086003", "medgen:163218"], "information_content": 100.0}
{"id": "orphanet:221008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rothmund-Thomson syndrome type 1", "equivalent_identifiers": ["orphanet:221008"]}
{"id": "MONDO:0010826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood absence epilepsy", "equivalent_identifiers": ["MONDO:0010826", "DOID:0050708", "DOID:0070309", "DOID:1825", "OMIM.PS:600131", "orphanet:64280", "UMLS:C0014553", "UMLS:C4281785", "MESH:D004832", "MEDDRA:10015043", "MEDDRA:10034757", "MEDDRA:10034759", "MEDDRA:10083376", "MEDDRA:10083377", "MEDDRA:10085034", "NCIT:C128189", "NCIT:C3023", "SNOMEDCT:50866000", "SNOMEDCT:79631006", "medgen:924120", "icd11.foundation:726403046"], "information_content": 88.2}
{"id": "HP:0030218", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Punding", "equivalent_identifiers": ["HP:0030218", "UMLS:C1963933", "MEDDRA:10067626"], "information_content": 100.0}
{"id": "MONDO:0018349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MAN1B1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0018349", "orphanet:397941", "UMLS:C4518783", "SNOMEDCT:733450008", "medgen:1375785"], "information_content": 100.0}
{"id": "MONDO:0017823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "somatomammotropinoma", "equivalent_identifiers": ["MONDO:0017823", "orphanet:314769", "UMLS:C1708927", "UMLS:C4755297", "NCIT:C45928", "SNOMEDCT:778046002", "medgen:1649254"], "information_content": 100.0}
{"id": "MONDO:0009133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia, intellectual disability, and dysequilibrium", "equivalent_identifiers": ["MONDO:0009133", "DOID:0050997", "DOID:0070564", "OMIM.PS:224050", "orphanet:1766", "UMLS:C0394006", "UMLS:C0403559", "MESH:C535731", "MEDDRA:10013140", "MEDDRA:10059256", "NCIT:C114781", "SNOMEDCT:230782004", "SNOMEDCT:87235005", "medgen:98295"], "information_content": 89.4}
{"id": "HP:0030984", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal serum bile acid concentration", "equivalent_identifiers": ["HP:0030984", "UMLS:C4477099"], "information_content": 88.2}
{"id": "HP:0012289", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial neoplasm", "equivalent_identifiers": ["HP:0012289", "UMLS:C0015461", "SNOMEDCT:126632002", "MESH:D005153"], "information_content": 90.9}
{"id": "MONDO:0021210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trachea neoplasm", "equivalent_identifiers": ["MONDO:0021210", "EFO:1001437", "UMLS:C0040582", "MESH:D014134", "MEDDRA:10051866", "MEDDRA:10062133", "NCIT:C3419", "medgen:21602", "HP:0100551"], "information_content": 83.1}
{"id": "MONDO:0016814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternally-inherited Leigh syndrome", "equivalent_identifiers": ["MONDO:0016814", "orphanet:255210", "UMLS:C2931092", "MESH:C536035", "SNOMEDCT:717052002", "medgen:443976"], "information_content": 100.0}
{"id": "orphanet:440437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Familial colorectal cancer Type X", "equivalent_identifiers": ["orphanet:440437"]}
{"id": "MONDO:0015772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 8q", "equivalent_identifiers": ["MONDO:0015772", "orphanet:1752", "UMLS:C0795829", "MESH:C538020", "medgen:162775", "icd11.foundation:573390171"], "information_content": 100.0}
{"id": "MONDO:0000250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osmotic diarrheal disease", "equivalent_identifiers": ["MONDO:0000250", "DOID:0050130", "UMLS:C0267556", "MEDDRA:10057036", "MEDDRA:10073887", "SNOMEDCT:2946003", "medgen:540779", "HP:0033310"], "information_content": 100.0}
{"id": "MONDO:0015774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoraco-abdominal enteric duplication", "equivalent_identifiers": ["MONDO:0015774", "orphanet:1759", "UMLS:C4518084", "SNOMEDCT:733628001", "medgen:1372227", "icd11.foundation:1267632171"], "information_content": 100.0}
{"id": "MONDO:0015773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibular dimelia-diplopodia syndrome", "equivalent_identifiers": ["MONDO:0015773", "orphanet:1757", "UMLS:C4303758", "SNOMEDCT:720953006", "medgen:929427"], "information_content": 100.0}
{"id": "HP:0012597", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heavy proteinuria", "equivalent_identifiers": ["HP:0012597", "UMLS:C4022830"], "information_content": 100.0}
{"id": "MONDO:0015768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 5p", "equivalent_identifiers": ["MONDO:0015768", "orphanet:1742", "UMLS:C0812464", "SNOMEDCT:74008005", "medgen:1672500"], "information_content": 100.0}
{"id": "MONDO:0015771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 7", "equivalent_identifiers": ["MONDO:0015771", "orphanet:1747", "UMLS:C2931631", "MESH:C537822", "SNOMEDCT:764630003", "medgen:419125"], "information_content": 100.0}
{"id": "MONDO:0015769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal trisomy 6p", "equivalent_identifiers": ["MONDO:0015769", "orphanet:1745", "UMLS:C4302551", "SNOMEDCT:722430008", "medgen:928220"], "information_content": 100.0}
{"id": "MONDO:0016490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin C-beta-thalassemia syndrome", "equivalent_identifiers": ["MONDO:0016490", "orphanet:231242", "UMLS:C0221020", "MEDDRA:10085823", "MEDDRA:10085826", "SNOMEDCT:61777009", "medgen:526128"], "information_content": 100.0}
{"id": "HP:0100011", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scleral schwannoma", "equivalent_identifiers": ["HP:0100011", "UMLS:C4022390"], "information_content": 100.0}
{"id": "MONDO:0016491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin E-beta-thalassemia syndrome", "equivalent_identifiers": ["MONDO:0016491", "orphanet:231249", "UMLS:C0472777", "SNOMEDCT:234392002", "medgen:632783"], "information_content": 100.0}
{"id": "orphanet:363700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion", "equivalent_identifiers": ["orphanet:363700"]}
{"id": "HP:0020035", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower limb dysmetria", "equivalent_identifiers": ["HP:0020035", "UMLS:C4703378"], "information_content": 100.0}
{"id": "MONDO:0002119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteofibroma", "equivalent_identifiers": ["MONDO:0002119", "DOID:180", "EFO:0007412", "UMLS:C0206640", "UMLS:C0555196", "UMLS:C5400836", "MESH:D018214", "MEDDRA:10073852", "NCIT:C173820", "NCIT:C8422", "SNOMEDCT:25603007", "SNOMEDCT:302862001", "SNOMEDCT:302863006", "SNOMEDCT:80699009", "medgen:104906", "HP:0030426"], "information_content": 89.4}
{"id": "MONDO:0007259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofaciofrontodigital syndrome", "equivalent_identifiers": ["MONDO:0007259", "OMIM:114620", "orphanet:363705", "UMLS:C2676032", "MESH:C567298", "SNOMEDCT:763320005", "medgen:393947"], "information_content": 100.0}
{"id": "HP:0012568", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lower eyelid edema", "equivalent_identifiers": ["HP:0012568", "UMLS:C2025810", "UMLS:C3839997", "SNOMEDCT:700327003"], "information_content": 100.0}
{"id": "MONDO:0017325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation", "equivalent_identifiers": ["MONDO:0017325", "orphanet:289266", "UMLS:C4749281", "SNOMEDCT:770431001", "medgen:1663334", "icd11.foundation:1655554340"], "information_content": 100.0}
{"id": "MONDO:0019411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "genochondromatosis type 1", "equivalent_identifiers": ["MONDO:0019411", "orphanet:85197", "UMLS:C5438970", "SNOMEDCT:1003427004", "medgen:1761731", "icd11.foundation:521879469"], "information_content": 100.0}
{"id": "MONDO:0019412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysspondyloenchondromatosis", "equivalent_identifiers": ["MONDO:0019412", "orphanet:85198", "UMLS:C4302548", "SNOMEDCT:722434004", "medgen:928217", "icd11.foundation:942697844"], "information_content": 100.0}
{"id": "HP:0012742", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thin fingernail", "equivalent_identifiers": ["HP:0012742", "UMLS:C4022750"], "information_content": 100.0}
{"id": "MONDO:0019409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic juvenile osteoporosis", "equivalent_identifiers": ["MONDO:0019409", "DOID:12559", "OMIM:259750", "orphanet:85193", "UMLS:C0158447", "UMLS:C0264080", "MESH:C537700", "MEDDRA:10021236", "MEDDRA:10088561", "NCIT:C119996", "SNOMEDCT:3345002", "medgen:120494", "icd11.foundation:183642011", "ICD9:733.02"], "information_content": 100.0}
{"id": "MONDO:0015767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 4p", "equivalent_identifiers": ["MONDO:0015767", "orphanet:1738", "UMLS:C2931570", "UMLS:C2931571", "MESH:C537643", "medgen:419836"], "information_content": 100.0}
{"id": "MONDO:0018770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jeune syndrome", "equivalent_identifiers": ["MONDO:0018770", "DOID:0050592", "OMIM.PS:208500", "orphanet:474", "UMLS:C0265275", "MESH:C537571", "MEDDRA:10057621", "MEDDRA:10057642", "NCIT:C84794", "SNOMEDCT:75049004", "medgen:78548", "icd11.foundation:554018956", "ICD10:Q77.2"], "information_content": 78.8}
{"id": "MONDO:0018781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "KID syndrome", "equivalent_identifiers": ["MONDO:0018781", "OMIM.PS:148210", "orphanet:477", "UMLS:C3665333", "MESH:C536168", "MESH:C580224", "MEDDRA:10048786", "SNOMEDCT:239059004", "SNOMEDCT:2625009", "medgen:777082"], "information_content": 90.9}
{"id": "HP:0012278", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating serine concentration", "equivalent_identifiers": ["HP:0012278", "UMLS:C4022972", "UMLS:C5139064"], "information_content": 88.2}
{"id": "HP:0031265", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal glomerular visceral epithelial cell morphology", "equivalent_identifiers": ["HP:0031265", "UMLS:C4531238"], "information_content": 82.6}
{"id": "HP:0012590", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal urine output", "equivalent_identifiers": ["HP:0012590", "UMLS:C3693260"], "information_content": 82.6}
{"id": "HP:0004341", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of vitamin B12 metabolism", "equivalent_identifiers": ["HP:0004341", "UMLS:C4021658"], "information_content": 76.4}
{"id": "MONDO:0016486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cooley's anemia", "equivalent_identifiers": ["MONDO:0016486", "DOID:0080771", "orphanet:231214", "UMLS:C0002875", "MEDDRA:10010928", "MEDDRA:10043392", "MEDDRA:10054661", "MEDDRA:10055203", "MEDDRA:10080050", "MEDDRA:10080052", "MEDDRA:10090216", "MEDDRA:10090217", "NCIT:C129699", "SNOMEDCT:26682008", "SNOMEDCT:75451007", "medgen:283"], "information_content": 100.0}
{"id": "MONDO:0035764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance", "equivalent_identifiers": ["MONDO:0035764", "orphanet:567546", "UMLS:C5680131", "SNOMEDCT:1260198000", "medgen:1830098"], "information_content": 100.0}
{"id": "MONDO:0035763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic non-lupus full-house nephropathy", "equivalent_identifiers": ["MONDO:0035763", "orphanet:567544", "UMLS:C5680132", "SNOMEDCT:1260197005", "medgen:1830099"], "information_content": 100.0}
{"id": "MONDO:0017366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary pheochromocytoma-paraganglioma", "equivalent_identifiers": ["MONDO:0017366", "orphanet:29072", "UMLS:C1708353", "NCIT:C48300", "medgen:313270"], "information_content": 83.6}
{"id": "MONDO:0018725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corpus callosum agenesis-macrocephaly-hypertelorism syndrome", "equivalent_identifiers": ["MONDO:0018725", "orphanet:459074", "UMLS:C5679998", "SNOMEDCT:1208720000", "medgen:1801729"], "information_content": 100.0}
{"id": "MONDO:0018724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0018724", "orphanet:459070", "UMLS:C5687848", "SNOMEDCT:1217228004", "medgen:1811349"], "information_content": 100.0}
{"id": "MONDO:0015764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 20", "equivalent_identifiers": ["MONDO:0015764", "orphanet:1724"], "information_content": 100.0}
{"id": "HP:0010171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epiphyseal stippling of toe phalanges", "equivalent_identifiers": ["HP:0010171", "UMLS:C4021332"], "information_content": 80.2}
{"id": "HP:0010255", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stippling of the epiphyses of the distal phalanges of the hand", "equivalent_identifiers": ["HP:0010255", "UMLS:C4023945"], "information_content": 87.2}
{"id": "HP:3000052", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal hyoid bone morphology", "equivalent_identifiers": ["HP:3000052", "UMLS:C4073260"], "information_content": 90.9}
{"id": "HP:0010666", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypoplasia of the anterior nasal spine", "equivalent_identifiers": ["HP:0010666", "UMLS:C4023751", "UMLS:C4280372", "UMLS:C4280373"], "information_content": 100.0}
{"id": "MONDO:0015763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 2", "equivalent_identifiers": ["MONDO:0015763", "orphanet:1723", "UMLS:C4707010", "SNOMEDCT:764623009", "medgen:1631294"], "information_content": 100.0}
{"id": "HP:0012660", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thalamic hypometabolism in FDG PET", "equivalent_identifiers": ["HP:0012660", "UMLS:C4022796"], "information_content": 100.0}
{"id": "HP:0008776", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal renal artery morphology", "equivalent_identifiers": ["HP:0008776", "UMLS:C4024624"], "information_content": 82.1}
{"id": "HP:0040230", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased level of tissue plasminogen activator", "equivalent_identifiers": ["HP:0040230", "UMLS:C4280714"], "information_content": 100.0}
{"id": "HP:0040245", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced alpha-2-antiplasmin activity", "equivalent_identifiers": ["HP:0040245", "UMLS:C4280703"], "information_content": 100.0}
{"id": "HP:0040249", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced plasminogen activator inhibitor 1 antigen", "equivalent_identifiers": ["HP:0040249", "UMLS:C4280699"], "information_content": 100.0}
{"id": "HP:0500173", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reflex asystolic syncope", "equivalent_identifiers": ["HP:0500173", "UMLS:C2584658", "SNOMEDCT:440443001"], "information_content": 100.0}
{"id": "MONDO:0016487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-thalassemia intermedia", "equivalent_identifiers": ["MONDO:0016487", "DOID:0080772", "orphanet:231222", "UMLS:C0472767", "SNOMEDCT:191189009", "medgen:450544"], "information_content": 100.0}
{"id": "MONDO:0015729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 16", "equivalent_identifiers": ["MONDO:0015729", "orphanet:1708", "UMLS:C4707009", "MESH:C538041", "MEDDRA:10081935", "SNOMEDCT:764621006", "medgen:1633950"], "information_content": 100.0}
{"id": "MONDO:0015728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal trisomy 15q", "equivalent_identifiers": ["MONDO:0015728", "orphanet:1707", "UMLS:C2931704", "UMLS:C2931705", "MESH:C538036", "medgen:419879"], "information_content": 100.0}
{"id": "MONDO:0015741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal trisomy 18q", "equivalent_identifiers": ["MONDO:0015741", "orphanet:1716", "UMLS:C5190516", "SNOMEDCT:782676009", "medgen:1674040"], "information_content": 100.0}
{"id": "HP:0004622", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive intervertebral space narrowing", "equivalent_identifiers": ["HP:0004622", "UMLS:C1837670"], "information_content": 100.0}
{"id": "MONDO:0015740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 18p", "equivalent_identifiers": ["MONDO:0015740", "orphanet:1715", "UMLS:C2931811", "MESH:C538307", "medgen:419907", "icd11.foundation:2079728626"], "information_content": 100.0}
{"id": "MONDO:0018896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombotic thrombocytopenic purpura", "equivalent_identifiers": ["MONDO:0018896", "DOID:10772", "orphanet:54057", "UMLS:C0034155", "MESH:D011697", "MEDDRA:10037562", "MEDDRA:10037563", "MEDDRA:10043562", "MEDDRA:10043648", "MEDDRA:10073197", "NCIT:C78797", "SNOMEDCT:78129009", "medgen:48266", "icd11.foundation:1708277768", "ICD10:M31.19"], "information_content": 92.8}
{"id": "MONDO:0015730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 17", "equivalent_identifiers": ["MONDO:0015730", "orphanet:1711", "UMLS:C1096168", "MESH:C538044", "SNOMEDCT:764622004", "medgen:202107"], "information_content": 100.0}
{"id": "HP:0012509", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced thyroxin-binding globulin", "equivalent_identifiers": ["HP:0012509", "UMLS:C4022872"], "information_content": 100.0}
{"id": "HP:0012882", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperplastic labia majora", "equivalent_identifiers": ["HP:0012882", "UMLS:C4021060"], "information_content": 100.0}
{"id": "HP:0031404", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Impaired antigen-specific response", "equivalent_identifiers": ["HP:0031404", "UMLS:C4531146"], "information_content": 78.8}
{"id": "MONDO:0018851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial keratoacanthoma", "equivalent_identifiers": ["MONDO:0018851", "orphanet:493", "UMLS:C5848325", "SNOMEDCT:716774008", "medgen:1843863"], "information_content": 100.0}
{"id": "MONDO:0018850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proliferating trichilemmal cyst", "equivalent_identifiers": ["MONDO:0018850", "orphanet:492", "UMLS:C2959585", "MEDDRA:10089977", "MEDDRA:10089983", "NCIT:C27125", "SNOMEDCT:128638007", "SNOMEDCT:254678009", "SNOMEDCT:446023005", "medgen:754766"], "information_content": 100.0}
{"id": "MONDO:0018853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transgrediens et progrediens palmoplantar keratoderma", "equivalent_identifiers": ["MONDO:0018853", "orphanet:495", "UMLS:C1851480", "medgen:338702"], "information_content": 100.0}
{"id": "MONDO:0015727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 15", "equivalent_identifiers": ["MONDO:0015727", "orphanet:1706", "UMLS:C2931707", "MESH:C538037", "SNOMEDCT:764619001", "medgen:419475"], "information_content": 100.0}
{"id": "MONDO:0015726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal trisomy 14q", "equivalent_identifiers": ["MONDO:0015726", "orphanet:1705", "UMLS:C2931702", "MESH:C538034", "medgen:444122"], "information_content": 100.0}
{"id": "MONDO:0015725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 14", "equivalent_identifiers": ["MONDO:0015725", "orphanet:1703", "UMLS:C2930917", "MESH:C535489", "NCIT:C116319", "SNOMEDCT:764466009", "medgen:418947"], "information_content": 100.0}
{"id": "MONDO:0015724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-distal trisomy 13q", "equivalent_identifiers": ["MONDO:0015724", "orphanet:1702", "UMLS:C4707260", "SNOMEDCT:764996009", "medgen:1637117"], "information_content": 100.0}
{"id": "MONDO:0018895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plummer-Vinson syndrome", "equivalent_identifiers": ["MONDO:0018895", "orphanet:54028", "UMLS:C0032249", "MESH:D011004", "MEDDRA:10034132", "MEDDRA:10035632", "MEDDRA:10040664", "NCIT:C85016", "SNOMEDCT:80126007", "medgen:45967", "icd11.foundation:1568337509"], "information_content": 100.0}
{"id": "HP:0100594", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Esophageal web", "equivalent_identifiers": ["HP:0100594", "NCIT:C98925", "UMLS:C0267080", "SNOMEDCT:19216006", "SNOMEDCT:22395006"], "information_content": 100.0}
{"id": "HP:0025062", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Geophagia", "equivalent_identifiers": ["HP:0025062", "UMLS:C0232480", "MEDDRA:10018202", "SNOMEDCT:5917004"], "information_content": 100.0}
{"id": "MONDO:0008742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant severe congenital neutropenia", "equivalent_identifiers": ["MONDO:0008742", "DOID:0112130", "orphanet:486", "UMLS:C4749612", "NCIT:C166155", "SNOMEDCT:770947009", "medgen:1665322"], "information_content": 90.9}
{"id": "HP:0004557", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anterior vertebral fusion", "equivalent_identifiers": ["HP:0004557", "UMLS:C1969393"], "information_content": 100.0}
{"id": "MONDO:0018830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kimura disease", "equivalent_identifiers": ["MONDO:0018830", "DOID:7365", "orphanet:482", "EFO:1000722", "UMLS:C0033838", "MESH:D000082242", "MESH:D000796", "MEDDRA:10048640", "NCIT:C26867", "SNOMEDCT:399894006", "medgen:46183", "icd11.foundation:1229046951"], "information_content": 100.0}
{"id": "MONDO:0018556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lambert-Eaton myasthenic syndrome", "equivalent_identifiers": ["MONDO:0018556", "DOID:0050214", "orphanet:43393", "EFO:0020094", "UMLS:C0022972", "MESH:D015624", "MEDDRA:10014070", "MEDDRA:10067685", "NCIT:C3155", "SNOMEDCT:56989000", "medgen:6005", "icd11:8C62", "icd11.foundation:796417193", "ICD10:G70.80", "ICD10:G73.1", "ICD9:358.3"], "information_content": 100.0}
{"id": "HP:0030000", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EMG: repetitive nerve stimulation abnormality", "equivalent_identifiers": ["HP:0030000", "UMLS:C4022681"], "information_content": 100.0}
{"id": "HP:0030209", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Calcium channel antibody positivity", "equivalent_identifiers": ["HP:0030209", "UMLS:C4022577"], "information_content": 100.0}
{"id": "HP:5000027", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-P/Q-type VGCC antibody positivity", "equivalent_identifiers": ["HP:5000027", "UMLS:C5558422"], "information_content": 100.0}
{"id": "orphanet:566243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta", "equivalent_identifiers": ["orphanet:566243"]}
{"id": "MONDO:0018031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous slack skin disease", "equivalent_identifiers": ["MONDO:0018031", "orphanet:33111", "UMLS:C0457002", "NCIT:C35464", "SNOMEDCT:277796003", "medgen:99139"], "information_content": 100.0}
{"id": "MONDO:0018800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kallmann syndrome", "equivalent_identifiers": ["MONDO:0018800", "DOID:3614", "orphanet:478", "UMLS:C0162809", "MESH:D017436", "MEDDRA:10023276", "MEDDRA:10053142", "MEDDRA:10053145", "MEDDRA:10064781", "NCIT:C75479", "SNOMEDCT:93559003", "medgen:102469"], "information_content": 80.6}
{"id": "MONDO:0019267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin B12-unresponsive methylmalonic acidemia type mut-", "equivalent_identifiers": ["MONDO:0019267", "orphanet:79312", "UMLS:C0342719", "SNOMEDCT:237946002", "medgen:575192"], "information_content": 100.0}
{"id": "MONDO:0011096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal agammaglobulinemia", "equivalent_identifiers": ["MONDO:0011096", "orphanet:33110", "UMLS:C1832241", "MESH:C538056", "medgen:316941"], "information_content": 85.5}
{"id": "MONDO:0019790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroleptic malignant syndrome", "equivalent_identifiers": ["MONDO:0019790", "DOID:14464", "orphanet:94093", "EFO:1001379", "UMLS:C0027849", "MESH:D009459", "MEDDRA:10029281", "MEDDRA:10029282", "NCIT:C94829", "SNOMEDCT:15244003", "medgen:10320", "icd11.foundation:498240876", "ICD10:G21.0", "ICD9:333.92"], "information_content": 100.0}
{"id": "HP:0030019", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased female libido", "equivalent_identifiers": ["HP:0030019", "UMLS:C4022675"], "information_content": 100.0}
{"id": "MONDO:0015420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft lip and alveolus", "equivalent_identifiers": ["MONDO:0015420", "orphanet:141291", "UMLS:C1298692", "SNOMEDCT:373643003", "medgen:720590", "icd11.foundation:1653169553"], "information_content": 95.4}
{"id": "MONDO:0018244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to SIM1 deficiency", "equivalent_identifiers": ["MONDO:0018244", "orphanet:369873", "UMLS:C5191050", "SNOMEDCT:783719006", "medgen:1680592"], "information_content": 100.0}
{"id": "HP:0012339", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased resting energy expenditure", "equivalent_identifiers": ["HP:0012339", "UMLS:C4022948"], "information_content": 100.0}
{"id": "MONDO:0100480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune primary adrenal insufficiency", "equivalent_identifiers": ["MONDO:0100480", "orphanet:85138", "UMLS:C0271737", "MEDDRA:10080674", "NCIT:C113814", "SNOMEDCT:76715008", "medgen:543526", "icd11.foundation:1920929898"], "information_content": 100.0}
{"id": "MONDO:0009813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic recurrent multifocal osteomyelitis", "equivalent_identifiers": ["MONDO:0009813", "DOID:0060645", "OMIM.PS:609628", "orphanet:324964", "UMLS:C0410422", "MESH:C535456", "MEDDRA:10071530", "MEDDRA:10071531", "NCIT:C119042", "SNOMEDCT:240151005", "medgen:140822", "icd11.foundation:1256384247", "ICD10:M86.3"], "information_content": 90.9}
{"id": "MONDO:0018543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hypocalcemia", "equivalent_identifiers": ["MONDO:0018543", "DOID:0090109", "OMIM.PS:601198", "orphanet:428", "UMLS:C4048195", "NCIT:C123261", "SNOMEDCT:711152006", "medgen:884527", "ICD10:E20.8"], "information_content": 92.8}
{"id": "MONDO:0018541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypoaldosteronism", "equivalent_identifiers": ["MONDO:0018541", "orphanet:427", "UMLS:C4275180", "SNOMEDCT:715343000", "medgen:899592", "icd11.foundation:712299654"], "information_content": 88.2}
{"id": "MONDO:0009071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary renal hypouricemia", "equivalent_identifiers": ["MONDO:0009071", "orphanet:94088", "UMLS:C4551590", "MESH:C537757", "SNOMEDCT:236478009", "medgen:1643078", "icd11.foundation:479364233"], "information_content": 88.2}
{"id": "HP:0008651", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uric acid urolithiasis independent of gout", "equivalent_identifiers": ["HP:0008651", "UMLS:C4024647"], "information_content": 100.0}
{"id": "HP:0003909", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cortical subperiosteal resorption of humeral metaphyses", "equivalent_identifiers": ["HP:0003909", "UMLS:C4025515"], "information_content": 100.0}
{"id": "MONDO:0020490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic trisomy 9", "equivalent_identifiers": ["MONDO:0020490", "orphanet:99776", "UMLS:C2930908", "MESH:C535454", "MEDDRA:10071548", "SNOMEDCT:764989007", "medgen:419661"], "information_content": 100.0}
{"id": "orphanet:425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Apolipoprotein A-I deficiency", "equivalent_identifiers": ["orphanet:425"]}
{"id": "orphanet:422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Idiopathic/heritable pulmonary arterial hypertension", "equivalent_identifiers": ["orphanet:422"]}
{"id": "MONDO:0019788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-secreting paraganglioma", "equivalent_identifiers": ["MONDO:0019788", "orphanet:94080", "UMLS:C4707263", "SNOMEDCT:764999002", "medgen:1634671"], "information_content": 95.4}
{"id": "HP:0040317", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blue urine", "equivalent_identifiers": ["HP:0040317", "UMLS:C4477103"], "information_content": 100.0}
{"id": "HP:0030474", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Undetectable dark-adapted electroretinogram", "equivalent_identifiers": ["HP:0030474", "UMLS:C4072964"], "information_content": 100.0}
{"id": "HP:0030618", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased OCT-measured foveal thickness", "equivalent_identifiers": ["HP:0030618", "UMLS:C4073088"], "information_content": 100.0}
{"id": "MONDO:0018709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-hypotonia-movement disorder syndrome", "equivalent_identifiers": ["MONDO:0018709", "orphanet:457260", "UMLS:C5681121", "SNOMEDCT:1254654006", "medgen:1814468"], "information_content": 100.0}
{"id": "HP:0031981", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated urine glycolate", "equivalent_identifiers": ["HP:0031981", "UMLS:C4732789"], "information_content": 100.0}
{"id": "MONDO:0018473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipoproteinemia type 3", "equivalent_identifiers": ["MONDO:0018473", "DOID:3145", "OMIM:617347", "orphanet:412", "UMLS:C0020479", "UMLS:C1862556", "UMLS:C1862557", "UMLS:C1862558", "UMLS:C1862560", "UMLS:C1862561", "UMLS:C1862562", "UMLS:C2676098", "MESH:C566260", "MESH:C566261", "MESH:C566262", "MESH:C566263", "MESH:C566264", "MESH:C566265", "MESH:D006952", "MEDDRA:10038316", "MEDDRA:10045266", "MEDDRA:10054595", "MEDDRA:10054677", "MEDDRA:10058389", "MEDDRA:10058414", "MEDDRA:10060751", "MEDDRA:10060752", "MEDDRA:10064615", "MEDDRA:10064708", "NCIT:C34710", "SNOMEDCT:398796005", "medgen:9364"], "information_content": 100.0}
{"id": "HP:0025530", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xanthomas of the palmar creases", "equivalent_identifiers": ["HP:0025530", "UMLS:C4476834"], "information_content": 100.0}
{"id": "HP:0011965", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating citrulline concentration", "equivalent_identifiers": ["HP:0011965", "UMLS:C4023103", "UMLS:C5139062"], "information_content": 88.2}
{"id": "MONDO:0004114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary bladder small cell neuroendocrine carcinoma", "equivalent_identifiers": ["MONDO:0004114", "DOID:7132", "orphanet:284400", "EFO:1000129", "UMLS:C1332564", "UMLS:CN202866", "NCIT:C9461", "SNOMEDCT:718604008", "medgen:231950"], "information_content": 88.2}
{"id": "MONDO:0018683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired ichthyosis", "equivalent_identifiers": ["MONDO:0018683", "orphanet:454", "UMLS:C0263386", "MESH:C538175", "MEDDRA:10000561", "MEDDRA:10021199", "NCIT:C112831", "SNOMEDCT:8691004", "medgen:78092", "icd11.foundation:1504032289"], "information_content": 100.0}
{"id": "MONDO:0016564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PSP-AOS", "equivalent_identifiers": ["MONDO:0016564", "orphanet:240112", "UMLS:C5679850", "medgen:1842806"], "information_content": 100.0}
{"id": "MONDO:0019786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia", "equivalent_identifiers": ["MONDO:0019786", "orphanet:94066", "UMLS:C4510007", "SNOMEDCT:723676007", "medgen:1372948"], "information_content": 100.0}
{"id": "MONDO:0004729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyskinesia of esophagus", "equivalent_identifiers": ["MONDO:0004729", "DOID:9192", "EFO:1001785", "UMLS:C0014858", "UMLS:C0014863", "UMLS:C0859977", "UMLS:C1442913", "UMLS:C1442915", "UMLS:C1442916", "MESH:D015154", "MESH:D015155", "MEDDRA:10013924", "MEDDRA:10013925", "MEDDRA:10013926", "MEDDRA:10015390", "MEDDRA:10015469", "MEDDRA:10030184", "MEDDRA:10030225", "MEDDRA:10041383", "MEDDRA:10042751", "MEDDRA:10055456", "MEDDRA:10056087", "MEDDRA:10056089", "MEDDRA:10072419", "MEDDRA:10072420", "MEDDRA:10085601", "MEDDRA:10085602", "SNOMEDCT:266434009", "SNOMEDCT:79962008", "medgen:41868", "ICD10:K22.4", "ICD9:530.5", "HP:0025271"], "information_content": 100.0}
{"id": "MONDO:0018608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pure autonomic failure", "equivalent_identifiers": ["MONDO:0018608", "orphanet:441", "UMLS:C0393911", "UMLS:C2931939", "MESH:C544351", "MESH:D054970", "MEDDRA:10089970", "MEDDRA:10089971", "MEDDRA:10089972", "SNOMEDCT:84438001", "medgen:98293", "icd11.foundation:734022291"], "information_content": 100.0}
{"id": "HP:0012099", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of circulating catecholamine level", "equivalent_identifiers": ["HP:0012099", "UMLS:C4021102"], "information_content": 86.3}
{"id": "MONDO:0020488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical progressive supranuclear palsy syndrome", "equivalent_identifiers": ["MONDO:0020488", "orphanet:99750", "UMLS:C5548371", "SNOMEDCT:1156790008", "medgen:1779597"], "information_content": 89.4}
{"id": "HP:0025330", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Downgaze palsy", "equivalent_identifiers": ["HP:0025330", "UMLS:C4476704"], "information_content": 100.0}
{"id": "MONDO:0018631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marie Unna hereditary hypotrichosis", "equivalent_identifiers": ["MONDO:0018631", "orphanet:444", "UMLS:C2931059", "MESH:C535912", "SNOMEDCT:254234005", "medgen:419706"], "information_content": 92.8}
{"id": "MONDO:0019784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "12q14 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0019784", "orphanet:94063", "UMLS:C4305140", "SNOMEDCT:719046005", "medgen:930809"], "information_content": 100.0}
{"id": "MONDO:0016563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive supranuclear palsy-corticobasal syndrome", "equivalent_identifiers": ["MONDO:0016563", "orphanet:240103", "UMLS:C5548189", "SNOMEDCT:1156763004", "medgen:1781130"], "information_content": 100.0}
{"id": "MONDO:0019783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neovascular glaucoma", "equivalent_identifiers": ["MONDO:0019783", "DOID:1687", "orphanet:94058", "EFO:1001060", "UMLS:C0017609", "MESH:D015355", "MEDDRA:10062891", "SNOMEDCT:232086000", "medgen:4898", "icd11.foundation:700864997"], "information_content": 100.0}
{"id": "HP:3000032", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of central retinal artery", "equivalent_identifiers": ["HP:3000032", "UMLS:C4073240"], "information_content": 88.2}
{"id": "MONDO:0020487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pontiac fever", "equivalent_identifiers": ["MONDO:0020487", "DOID:0050150", "orphanet:99748", "UMLS:C0343528", "MEDDRA:10054161", "NCIT:C128335", "SNOMEDCT:240447002", "medgen:575661", "icd11.foundation:1670562980"], "information_content": 100.0}
{"id": "orphanet:94059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uremic pruritus", "equivalent_identifiers": ["orphanet:94059"]}
{"id": "MONDO:0005619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "typhoid fever", "equivalent_identifiers": ["MONDO:0005619", "DOID:13258", "orphanet:99745", "EFO:0006789", "UMLS:C0041466", "MESH:D014435", "MEDDRA:10014862", "MEDDRA:10039446", "MEDDRA:10045272", "MEDDRA:10045275", "NCIT:C35089", "SNOMEDCT:4834000", "medgen:11973", "icd11.foundation:1528414070", "ICD10:A01.0", "ICD9:002.0"], "information_content": 100.0}
{"id": "MONDO:0015761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 10p", "equivalent_identifiers": ["MONDO:0015761", "orphanet:171929", "UMLS:C0795837", "UMLS:C4082793", "MESH:C538290", "SNOMEDCT:717157006", "medgen:904688"], "information_content": 100.0}
{"id": "HP:0011181", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low voltage EEG", "equivalent_identifiers": ["HP:0011181", "UMLS:C1851759"], "information_content": 100.0}
{"id": "MONDO:0017215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calciphylaxis", "equivalent_identifiers": ["MONDO:0017215", "DOID:4734", "orphanet:280062", "UMLS:C0006666", "MESH:D002115", "MEDDRA:10051714", "NCIT:C84607", "SNOMEDCT:237900002", "medgen:2404", "icd11.foundation:574291789"], "information_content": 92.8}
{"id": "MONDO:0010866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile osteopetrosis with neuroaxonal dysplasia", "equivalent_identifiers": ["MONDO:0010866", "DOID:0070343", "OMIM:600329", "orphanet:85179", "UMLS:C1838258", "UMLS:C4510764", "MESH:C536055", "SNOMEDCT:724226009", "medgen:373924", "icd11.foundation:1434293148"], "information_content": 95.4}
{"id": "MONDO:0011620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metaphyseal dysplasia, Braun-Tinschert type", "equivalent_identifiers": ["MONDO:0011620", "OMIM:605946", "orphanet:85188", "UMLS:C1853825", "MESH:C565271", "SNOMEDCT:717221005", "medgen:381277"], "information_content": 100.0}
{"id": "HP:0003985", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exostoses of the ulna", "equivalent_identifiers": ["HP:0003985", "UMLS:C4025464", "SNOMEDCT:673501000119107"], "information_content": 100.0}
{"id": "HP:0003986", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exostoses of the radius", "equivalent_identifiers": ["HP:0003986", "UMLS:C4025463"], "information_content": 95.4}
{"id": "HP:0010498", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bifid patella", "equivalent_identifiers": ["HP:0010498", "UMLS:C0265666", "MEDDRA:10081341", "SNOMEDCT:79214007", "MESH:C000721292"], "information_content": 100.0}
{"id": "HP:0100916", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerosis of middle finger phalanx", "equivalent_identifiers": ["HP:0100916", "UMLS:C4020939"], "information_content": 80.9}
{"id": "HP:0100917", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerosis of proximal finger phalanx", "equivalent_identifiers": ["HP:0100917", "UMLS:C4020938"], "information_content": 79.9}
{"id": "HP:0002703", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormality of skull ossification", "equivalent_identifiers": ["HP:0002703", "UMLS:C4025686", "UMLS:C4280550", "UMLS:C4280551", "UMLS:C4280552", "UMLS:C4280553"], "information_content": 84.8}
{"id": "MONDO:0044688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated optic neuritis", "equivalent_identifiers": ["MONDO:0044688", "orphanet:499096", "UMLS:C5848152", "medgen:1864429"], "information_content": 89.4}
{"id": "HP:0031171", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Femoral spur", "equivalent_identifiers": ["HP:0031171", "UMLS:C4477017"], "information_content": 100.0}
{"id": "MONDO:0019406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial conodysplasia", "equivalent_identifiers": ["MONDO:0019406", "orphanet:85168", "UMLS:C4303862", "SNOMEDCT:720754008", "medgen:929531"], "information_content": 100.0}
{"id": "MONDO:0019408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Astley-Kendall dysplasia", "equivalent_identifiers": ["MONDO:0019408", "orphanet:85175", "UMLS:C1300228", "MESH:C535392", "SNOMEDCT:389263004", "medgen:224886", "icd11.foundation:1367227076"], "information_content": 100.0}
{"id": "HP:0004018", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flared radial metaphysis", "equivalent_identifiers": ["HP:0004018", "UMLS:C4025441", "UMLS:C4476538"], "information_content": 100.0}
{"id": "MONDO:0035018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontonasal dysplasia-bifid nose-upper limb anomalies syndrome", "equivalent_identifiers": ["MONDO:0035018", "orphanet:521308", "UMLS:C5567892", "SNOMEDCT:1177166006", "medgen:1799315"], "information_content": 100.0}
{"id": "MONDO:0018039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "selective IgM deficiency", "equivalent_identifiers": ["MONDO:0018039", "DOID:0050222", "orphanet:331235", "UMLS:C0154275", "MEDDRA:10039916", "NCIT:C26965", "SNOMEDCT:190980000", "medgen:57820"], "information_content": 100.0}
{"id": "HP:0030380", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased transitional B cell proportion", "equivalent_identifiers": ["HP:0030380", "UMLS:C4072919"], "information_content": 100.0}
{"id": "MONDO:0016996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NK-cell enteropathy", "equivalent_identifiers": ["MONDO:0016996", "orphanet:263665", "UMLS:C4509932", "NCIT:C200037", "SNOMEDCT:723496007", "medgen:1379183"], "information_content": 100.0}
{"id": "HP:0100350", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contracture of the proximal interphalangeal joint of the 4th toe", "equivalent_identifiers": ["HP:0100350", "UMLS:C4021017"], "information_content": 100.0}
{"id": "MONDO:0034212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methotrexate toxicity", "equivalent_identifiers": ["MONDO:0034212", "orphanet:565782", "UMLS:C0568062", "NCIT:C81194", "SNOMEDCT:290680001", "medgen:108272"], "information_content": 100.0}
{"id": "MONDO:0019405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial onset sensory and motor neuronopathy", "equivalent_identifiers": ["MONDO:0019405", "orphanet:85162", "UMLS:C4509818", "SNOMEDCT:723306004", "medgen:1374397"], "information_content": 100.0}
{"id": "orphanet:2197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Idiopathic hypercalciuria", "equivalent_identifiers": ["orphanet:2197"]}
{"id": "MONDO:0018458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypocalciuric hypercalcemia", "equivalent_identifiers": ["MONDO:0018458", "DOID:0060699", "OMIM.PS:145980", "orphanet:405", "UMLS:C1809471", "MEDDRA:10068698", "MEDDRA:10068702", "MEDDRA:10068704", "MEDDRA:10068705", "NCIT:C123262", "SNOMEDCT:237885008", "medgen:369200", "icd11.foundation:81374726", "ICD10:E83.5"], "information_content": 90.9}
{"id": "HP:0003513", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reduced ratio of renal calcium clearance to creatinine clearance", "equivalent_identifiers": ["HP:0003513", "UMLS:C4025605"], "information_content": 100.0}
{"id": "HP:0012609", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomagnesiuria", "equivalent_identifiers": ["HP:0012609", "UMLS:C3203528", "MEDDRA:10071356"], "information_content": 95.4}
{"id": "MONDO:0018459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated glycerol kinase deficiency", "equivalent_identifiers": ["MONDO:0018459", "orphanet:408", "UMLS:C0574108", "SNOMEDCT:297256008", "medgen:657821", "icd11.foundation:542432712"], "information_content": 92.8}
{"id": "HP:0011056", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of first permanent molar tooth", "equivalent_identifiers": ["HP:0011056", "UMLS:C4023562", "UMLS:C4280346"], "information_content": 100.0}
{"id": "HP:0011053", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Agenesis of mandibular premolar", "equivalent_identifiers": ["HP:0011053", "UMLS:C4023564", "UMLS:C4280349"], "information_content": 100.0}
{"id": "HP:0011746", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Secretory adrenocortical adenoma", "equivalent_identifiers": ["HP:0011746", "UMLS:C4021125"], "information_content": 100.0}
{"id": "MONDO:0018408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic echinococcosis", "equivalent_identifiers": ["MONDO:0018408", "DOID:1495", "orphanet:400", "UMLS:C4553297", "MEDDRA:10020479", "SNOMEDCT:721822004", "medgen:1639841", "ICD10:B67.4", "ICD9:122.4"], "information_content": 100.0}
{"id": "HP:0032101", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unusual infection", "equivalent_identifiers": ["HP:0032101", "UMLS:C5139132"], "information_content": 63.5}
{"id": "HP:0031630", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal subpleural morphology", "equivalent_identifiers": ["HP:0031630", "UMLS:C4703450"], "information_content": 90.9}
{"id": "MONDO:0017298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute zonal occult outer retinopathy", "equivalent_identifiers": ["MONDO:0017298", "orphanet:284454", "UMLS:C0730298", "MESH:C538223", "MEDDRA:10074444", "MEDDRA:10074447", "SNOMEDCT:312929003", "medgen:196452", "icd11.foundation:2011657601"], "information_content": 100.0}
{"id": "HP:0030662", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vitreous inflammatory cells", "equivalent_identifiers": ["HP:0030662", "UMLS:C4073117"], "information_content": 100.0}
{"id": "MONDO:0016349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hydrocephalus", "equivalent_identifiers": ["MONDO:0016349", "OMIM.PS:236600", "orphanet:2185", "UMLS:C0020256", "MEDDRA:10010506", "MEDDRA:10020511", "NCIT:C98876", "SNOMEDCT:47032000", "medgen:9336", "icd11.foundation:1878746673"], "information_content": 85.5}
{"id": "MONDO:0043164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmer pagon syndrome", "equivalent_identifiers": ["MONDO:0043164", "orphanet:2184", "UMLS:C2931734", "MESH:C538107", "SNOMEDCT:1208346003", "medgen:419886"], "information_content": 100.0}
{"id": "MONDO:0016346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus-obesity-hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0016346", "orphanet:2183", "UMLS:C4303476", "SNOMEDCT:721231007", "medgen:929145"], "information_content": 100.0}
{"id": "orphanet:254704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genetic hyperferritinemia without iron overload", "equivalent_identifiers": ["orphanet:254704"]}
{"id": "MONDO:0010972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome", "equivalent_identifiers": ["MONDO:0010972", "OMIM:600991", "orphanet:2180", "UMLS:C2931197", "UMLS:C3551260", "MESH:C536461", "SNOMEDCT:721229003", "medgen:764174"], "information_content": 100.0}
{"id": "MONDO:0018243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-hyperkinetic movement-truncal ataxia syndrome", "equivalent_identifiers": ["MONDO:0018243", "orphanet:369847", "UMLS:C5192595", "SNOMEDCT:787174003", "medgen:1683856"], "information_content": 95.4}
{"id": "MONDO:0006037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrolethalus syndrome", "equivalent_identifiers": ["MONDO:0006037", "DOID:0050779", "OMIM.PS:236680", "orphanet:2189", "UMLS:C2931104", "MESH:C536079", "SNOMEDCT:721232000", "medgen:419335"], "information_content": 92.8}
{"id": "HP:0025607", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Upper eyelid entropion", "equivalent_identifiers": ["HP:0025607", "UMLS:C0521731", "SNOMEDCT:95753002"], "information_content": 100.0}
{"id": "MONDO:0007842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "joint laxity, familial", "equivalent_identifiers": ["MONDO:0007842", "OMIM:147900", "orphanet:2295", "UMLS:C0268349", "MESH:C535884", "SNOMEDCT:71322004", "medgen:120629"], "information_content": 100.0}
{"id": "HP:0020142", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blood pressure substantially higher in arms than legs", "equivalent_identifiers": ["HP:0020142", "UMLS:C5209238"], "information_content": 100.0}
{"id": "HP:0031784", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal ascending aorta morphology", "equivalent_identifiers": ["HP:0031784", "UMLS:C4703539"], "information_content": 92.8}
{"id": "MONDO:0016464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "insulin-resistance syndrome type B", "equivalent_identifiers": ["MONDO:0016464", "orphanet:2298", "UMLS:C0342337", "SNOMEDCT:237652003", "medgen:574967", "icd11.foundation:408487090"], "information_content": 100.0}
{"id": "MONDO:0012520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "insulin-resistance syndrome type A", "equivalent_identifiers": ["MONDO:0012520", "OMIM:610549", "orphanet:2297", "EFO:1001503", "UMLS:C0271690", "UMLS:C0342278", "UMLS:C0342336", "MESH:C562710", "NCIT:C131836", "SNOMEDCT:237606005", "SNOMEDCT:237651005", "SNOMEDCT:9859006", "medgen:501111", "icd11.foundation:343459534"], "information_content": 100.0}
{"id": "MONDO:0016459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2q23.1 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016459", "orphanet:228402", "UMLS:C4304532", "SNOMEDCT:719657001", "medgen:930201"], "information_content": 100.0}
{"id": "MONDO:0019067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic steroid-sensitive nephrotic syndrome", "equivalent_identifiers": ["MONDO:0019067", "orphanet:69061"], "information_content": 89.4}
{"id": "MONDO:0016460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyvalvular heart disease syndrome", "equivalent_identifiers": ["MONDO:0016460", "orphanet:228410", "UMLS:C4509918", "SNOMEDCT:723448007", "medgen:1376905"], "information_content": 92.8}
{"id": "MONDO:0019068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization", "equivalent_identifiers": ["MONDO:0019068", "orphanet:69063", "UMLS:C4511239", "SNOMEDCT:725592009", "medgen:1384031"], "information_content": 100.0}
{"id": "MONDO:0016433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysmorphism-short stature-deafness-disorder of sex development syndrome", "equivalent_identifiers": ["MONDO:0016433", "orphanet:2282", "UMLS:C4518561", "SNOMEDCT:733050004", "medgen:1383129"], "information_content": 100.0}
{"id": "MONDO:0016461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5q35 microduplication syndrome", "equivalent_identifiers": ["MONDO:0016461", "orphanet:228415", "UMLS:C4304526", "SNOMEDCT:719665003", "medgen:930195"], "information_content": 100.0}
{"id": "MONDO:0100212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IFAP syndrome", "equivalent_identifiers": ["MONDO:0100212", "OMIM.PS:308205", "orphanet:2273", "UMLS:C1839988", "medgen:327007"], "information_content": 92.8}
{"id": "MONDO:0016417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital ichthyosis-microcephalus-tetraplegia syndrome", "equivalent_identifiers": ["MONDO:0016417", "orphanet:2271", "UMLS:C5679626", "SNOMEDCT:1197059004", "medgen:1809863"], "information_content": 100.0}
{"id": "MONDO:0015753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cap myopathy", "equivalent_identifiers": ["MONDO:0015753", "orphanet:171881", "UMLS:C3710589", "MESH:C579969", "SNOMEDCT:703532002", "medgen:777197"], "information_content": 100.0}
{"id": "MONDO:0007667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subependymoma", "equivalent_identifiers": ["MONDO:0007667", "DOID:4843", "orphanet:251639", "EFO:1000553", "EFO:1001197", "UMLS:C0206725", "MESH:D018315", "MEDDRA:10090830", "NCIT:C3795", "SNOMEDCT:4553004", "medgen:64637"], "information_content": 95.4}
{"id": "MONDO:0002071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supratentorial cancer", "equivalent_identifiers": ["MONDO:0002071", "DOID:1659", "UMLS:C0038874", "UMLS:C0751589", "MESH:D015173", "NCIT:C3397", "NCIT:C4964", "medgen:155589", "ICD10:C71.0", "HP:0030693"], "information_content": 66.4}
{"id": "MONDO:0009446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome", "equivalent_identifiers": ["MONDO:0009446", "OMIM:242530", "orphanet:2278", "UMLS:C1855787", "MESH:C536274", "medgen:340966"], "information_content": 100.0}
{"id": "MONDO:0016699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myxopapillary ependymoma", "equivalent_identifiers": ["MONDO:0016699", "DOID:5075", "orphanet:251643", "UMLS:C0205769", "MEDDRA:10014969", "NCIT:C3697", "SNOMEDCT:1623000", "medgen:104717"], "information_content": 92.8}
{"id": "MONDO:0035472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GJC2-related late-onset primary lymphedema", "equivalent_identifiers": ["MONDO:0035472", "orphanet:568051", "UMLS:C5681305", "SNOMEDCT:1222670005", "medgen:1809328"], "information_content": 100.0}
{"id": "MONDO:0016462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated agammaglobulinemia", "equivalent_identifiers": ["MONDO:0016462", "orphanet:229717", "UMLS:C4707181", "SNOMEDCT:764858009", "medgen:1639972"], "information_content": 84.2}
{"id": "MONDO:0009435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypospadias-intellectual disability, Goldblatt type syndrome", "equivalent_identifiers": ["MONDO:0009435", "OMIM:241760", "orphanet:2261", "UMLS:C0795989", "UMLS:C4274844", "MESH:C563067", "SNOMEDCT:716096005", "medgen:162896"], "information_content": 100.0}
{"id": "MONDO:0016407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligomeganephronia", "equivalent_identifiers": ["MONDO:0016407", "DOID:0111142", "orphanet:2260", "UMLS:C0431694", "NCIT:C123202", "SNOMEDCT:18417009", "medgen:609100", "icd11.foundation:1283447040"], "information_content": 100.0}
{"id": "HP:0025361", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal medullary pyramid morphology", "equivalent_identifiers": ["HP:0025361", "UMLS:C4476730"], "information_content": 95.4}
{"id": "MONDO:0009444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0009444", "OMIM:242510", "orphanet:2269", "UMLS:C1855788", "MESH:C537364", "SNOMEDCT:763404001", "medgen:344577"], "information_content": 100.0}
{"id": "MONDO:0000133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome", "equivalent_identifiers": ["MONDO:0000133", "DOID:0090007", "OMIM.PS:242860", "orphanet:2268", "UMLS:C0398788", "MESH:C537362", "SNOMEDCT:234633000", "medgen:140770", "ICD10:D84.8"], "information_content": 89.4}
{"id": "MONDO:0016414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis-intellectual disability, Lopes type", "equivalent_identifiers": ["MONDO:0016414", "orphanet:2266", "UMLS:C4509839", "SNOMEDCT:723365002", "medgen:1371854"], "information_content": 100.0}
{"id": "MONDO:0017140", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "L1 syndrome", "equivalent_identifiers": ["MONDO:0017140", "orphanet:275543", "UMLS:C5779710", "medgen:1830362", "icd11.foundation:1457804873"], "information_content": 89.4}
{"id": "MONDO:0018018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wild type ATTR amyloidosis", "equivalent_identifiers": ["MONDO:0018018", "DOID:0080937", "orphanet:330001", "UMLS:C0342623", "MEDDRA:10083919", "SNOMEDCT:237877004", "medgen:87446"], "information_content": 100.0}
{"id": "MONDO:0016423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune polyendocrinopathy type 4", "equivalent_identifiers": ["MONDO:0016423", "orphanet:227990", "UMLS:C3266026", "SNOMEDCT:449730005", "medgen:757804", "icd11.foundation:1561026337"], "information_content": 100.0}
{"id": "HP:0010451", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia/Hypoplasia of the spleen", "equivalent_identifiers": ["HP:0010451", "UMLS:C4023823"], "information_content": 89.4}
{"id": "HP:0012220", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Non-caseating epithelioid cell granulomatosis", "equivalent_identifiers": ["HP:0012220", "UMLS:C4022999"], "information_content": 100.0}
{"id": "MONDO:0015536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papular xanthoma", "equivalent_identifiers": ["MONDO:0015536", "orphanet:158008", "UMLS:C4707373", "SNOMEDCT:765221009", "medgen:1636485", "icd11.foundation:1137782407"], "information_content": 100.0}
{"id": "MONDO:0015535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthoma disseminatum", "equivalent_identifiers": ["MONDO:0015535", "orphanet:158003", "UMLS:C0043322", "MEDDRA:10013454", "MEDDRA:10052575", "SNOMEDCT:399970005", "medgen:12178", "icd11.foundation:1785140754"], "information_content": 100.0}
{"id": "MONDO:0015534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile xanthogranuloma", "equivalent_identifiers": ["MONDO:0015534", "DOID:4424", "orphanet:158000", "EFO:1000311", "UMLS:C0043324", "UMLS:C5887061", "MESH:D014972", "MEDDRA:10089466", "NCIT:C3451", "SNOMEDCT:400031009", "SNOMEDCT:400204000", "medgen:12179", "icd11.foundation:98595592"], "information_content": 92.8}
{"id": "HP:0200064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asymmetry of iris pigmentation", "equivalent_identifiers": ["HP:0200064", "UMLS:C5886781"], "information_content": 90.9}
{"id": "MONDO:0009233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibulo-ulnar hypoplasia-renal anomalies syndrome", "equivalent_identifiers": ["MONDO:0009233", "OMIM:228940", "orphanet:2256", "UMLS:C1856727", "MESH:C537226", "SNOMEDCT:716094008", "medgen:383972"], "information_content": 100.0}
{"id": "MONDO:0006372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituicytoma", "equivalent_identifiers": ["MONDO:0006372", "DOID:0081280", "orphanet:251623", "EFO:1000477", "UMLS:C2986550", "MEDDRA:10089140", "NCIT:C94524", "SNOMEDCT:450901008", "SNOMEDCT:608817003", "medgen:458776", "HP:0011754"], "information_content": 100.0}
{"id": "HP:0030661", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vitreous snowballs", "equivalent_identifiers": ["HP:0030661", "UMLS:C1563272", "SNOMEDCT:417393008"], "information_content": 100.0}
{"id": "MONDO:0005081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preeclampsia", "equivalent_identifiers": ["MONDO:0005081", "DOID:10591", "OMIM.PS:189800", "orphanet:275555", "EFO:0000668", "UMLS:C0032914", "MESH:D011225", "MEDDRA:10036485", "MEDDRA:10036492", "MEDDRA:10036493", "MEDDRA:10074050", "MEDDRA:10089264", "NCIT:C85021", "SNOMEDCT:398254007", "medgen:18608", "ICD10:O14", "HP:0100602"], "information_content": 85.5}
{"id": "MONDO:0016396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 1", "equivalent_identifiers": ["MONDO:0016396", "DOID:0112322", "orphanet:2254", "UMLS:C5442006", "MESH:C548069", "SNOMEDCT:718610008", "medgen:1780208", "icd11.foundation:1227773923"], "information_content": 90.9}
{"id": "MONDO:0016395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foveal hypoplasia-presenile cataract syndrome", "equivalent_identifiers": ["MONDO:0016395", "orphanet:2253", "UMLS:C2931644", "MESH:C537858", "SNOMEDCT:778042000", "medgen:419129"], "information_content": 100.0}
{"id": "MONDO:0020482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonia permanens", "equivalent_identifiers": ["MONDO:0020482", "orphanet:99735", "UMLS:C5848361", "SNOMEDCT:715789009", "medgen:1845910", "icd11.foundation:2133644550"], "information_content": 100.0}
{"id": "MONDO:0020483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acetazolamide-responsive myotonia", "equivalent_identifiers": ["MONDO:0020483", "orphanet:99736", "UMLS:C4275008", "SNOMEDCT:715793003", "medgen:902539", "icd11.foundation:1452993937"], "information_content": 100.0}
{"id": "MONDO:0018656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TACH syndrome", "equivalent_identifiers": ["MONDO:0018656", "orphanet:447896", "UMLS:C5680067", "medgen:1842823"], "information_content": 100.0}
{"id": "MONDO:0020481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonia fluctuans", "equivalent_identifiers": ["MONDO:0020481", "orphanet:99734", "UMLS:C0752355", "NCIT:C122789", "SNOMEDCT:715788001", "medgen:156269", "icd11.foundation:1294270721"], "information_content": 100.0}
{"id": "HP:0012902", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotonia of the lower limb", "equivalent_identifiers": ["HP:0012902", "UMLS:C4022684"], "information_content": 100.0}
{"id": "MONDO:0016392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar hypoplasia-tapetoretinal degeneration syndrome", "equivalent_identifiers": ["MONDO:0016392", "DOID:0070339", "orphanet:2246", "UMLS:C4275139", "SNOMEDCT:715436007", "medgen:902621"], "information_content": 100.0}
{"id": "HP:0010916", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating alanine concentration", "equivalent_identifiers": ["HP:0010916", "UMLS:C4023654"], "information_content": 88.2}
{"id": "MONDO:0020479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gigantism", "equivalent_identifiers": ["MONDO:0020479", "orphanet:99725", "UMLS:C0001207", "UMLS:C0017547", "MESH:D005877", "MEDDRA:10018265", "NCIT:C93046", "SNOMEDCT:80849007", "SNOMEDCT:86073008", "medgen:6602"], "information_content": 100.0}
{"id": "MONDO:0010165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulna hypoplasia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010165", "OMIM:276821", "orphanet:2249", "UMLS:C1848650", "MESH:C564757", "medgen:341275"], "information_content": 100.0}
{"id": "MONDO:0015539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive nodular histiocytosis", "equivalent_identifiers": ["MONDO:0015539", "orphanet:158022", "UMLS:C4707331", "SNOMEDCT:765141005", "medgen:1647278", "icd11.foundation:1576286064"], "information_content": 100.0}
{"id": "MONDO:0016386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome", "equivalent_identifiers": ["MONDO:0016386", "orphanet:2235", "UMLS:C2931722", "MESH:C538075", "SNOMEDCT:733113002", "medgen:419479"], "information_content": 100.0}
{"id": "MONDO:0010617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome", "equivalent_identifiers": ["MONDO:0010617", "OMIM:307500", "orphanet:2234", "UMLS:C1843994", "UMLS:C2931285", "MESH:C536679", "MESH:C564406", "SNOMEDCT:722459008", "medgen:334557"], "information_content": 100.0}
{"id": "MONDO:0016385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadism-mitral valve prolapse-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0016385", "orphanet:2233", "UMLS:C2931685", "MESH:C537981", "SNOMEDCT:721841001", "medgen:444117"], "information_content": 100.0}
{"id": "MONDO:0016603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "citrullinemia type II", "equivalent_identifiers": ["MONDO:0016603", "orphanet:247585", "UMLS:C1863844", "MESH:C538053", "MEDDRA:10079141", "MEDDRA:10079144", "NCIT:C150603", "SNOMEDCT:716863007", "medgen:350276"], "information_content": 90.9}
{"id": "HP:0030613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal foveal morphology on macular OCT", "equivalent_identifiers": ["HP:0030613", "UMLS:C4073083"], "information_content": 83.6}
{"id": "MONDO:0033925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pediatric-onset Graves disease", "equivalent_identifiers": ["MONDO:0033925", "orphanet:525731", "UMLS:C5680179", "medgen:1842979"], "information_content": 100.0}
{"id": "orphanet:447877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polymerase proofreading-related polyposis", "equivalent_identifiers": ["orphanet:447877"]}
{"id": "MONDO:0016390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypoparathyroidism", "equivalent_identifiers": ["MONDO:0016390", "DOID:0111387", "OMIM.PS:146200", "orphanet:2238", "UMLS:C1832648", "MESH:C537156", "MEDDRA:10090580", "SNOMEDCT:725036000", "medgen:322005", "icd11.foundation:1907423603"], "information_content": 86.3}
{"id": "MONDO:0016422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune polyendocrinopathy type 3", "equivalent_identifiers": ["MONDO:0016422", "orphanet:227982", "UMLS:C1535942", "MEDDRA:10064115", "SNOMEDCT:449731009", "medgen:453060", "icd11.foundation:1361747293"], "information_content": 100.0}
{"id": "MONDO:0018705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome", "equivalent_identifiers": ["MONDO:0018705", "orphanet:457205", "UMLS:C5680002", "SNOMEDCT:1260129000", "medgen:1814445"], "information_content": 100.0}
{"id": "MONDO:0006412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sinus histiocytosis with massive lymphadenopathy", "equivalent_identifiers": ["MONDO:0006412", "orphanet:158014", "UMLS:C0019625", "UMLS:C5848165", "MESH:D015618", "MEDDRA:10063397", "MEDDRA:10063591", "NCIT:C36075", "NCIT:C85069", "SNOMEDCT:1295376005", "SNOMEDCT:23041001", "SNOMEDCT:34287003", "medgen:9266", "icd11.foundation:1908538383"], "information_content": 81.7}
{"id": "MONDO:0017213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postorgasmic illness syndrome", "equivalent_identifiers": ["MONDO:0017213", "orphanet:279947", "UMLS:C4749582", "SNOMEDCT:770903003", "medgen:1663577", "icd11.foundation:1094271130"], "information_content": 100.0}
{"id": "MONDO:0016380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired hypertrichosis lanuginosa", "equivalent_identifiers": ["MONDO:0016380", "orphanet:2221", "UMLS:C0263481", "UMLS:C0343072", "MEDDRA:10086659", "SNOMEDCT:201160005", "SNOMEDCT:25967007", "medgen:87468", "icd11.foundation:1885858920"], "information_content": 100.0}
{"id": "MONDO:0020641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory tract neoplasm", "equivalent_identifiers": ["MONDO:0020641", "EFO:0003853", "UMLS:C0035244", "MESH:D012142", "MEDDRA:10029107", "MEDDRA:10038735", "MEDDRA:10061486", "NCIT:C3355", "SNOMEDCT:126667002", "SNOMEDCT:448708002", "medgen:11200", "HP:0100606"], "information_content": 57.7}
{"id": "MONDO:0017258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic panuveitis", "equivalent_identifiers": ["MONDO:0017258", "orphanet:280921", "UMLS:C4707884", "SNOMEDCT:766933000", "medgen:1633708"], "information_content": 95.4}
{"id": "HP:0100362", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aplasia of the phalanges of the 3rd toe", "equivalent_identifiers": ["HP:0100362", "UMLS:C4022125"], "information_content": 90.9}
{"id": "orphanet:158048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hemophagocytic syndrome associated with an infection", "equivalent_identifiers": ["orphanet:158048"]}
{"id": "HP:0031406", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal cytokine signaling", "equivalent_identifiers": ["HP:0031406", "UMLS:C4531145"], "information_content": 95.4}
{"id": "MONDO:0016546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary orthostatic tremor", "equivalent_identifiers": ["MONDO:0016546", "orphanet:238606", "UMLS:C0878578", "MESH:C536418", "SNOMEDCT:715902009", "medgen:164206"], "information_content": 100.0}
{"id": "MONDO:0018153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erdheim-Chester disease", "equivalent_identifiers": ["MONDO:0018153", "DOID:4329", "orphanet:35687", "EFO:1000926", "UMLS:C0878675", "MESH:D031249", "MEDDRA:10060801", "NCIT:C53972", "SNOMEDCT:699537002", "SNOMEDCT:703711007", "medgen:163902", "icd11.foundation:1395439137", "icd11.foundation:146718003"], "information_content": 86.3}
{"id": "MONDO:0016217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mal de Debarquement", "equivalent_identifiers": ["MONDO:0016217", "orphanet:210272", "UMLS:C1608983", "MESH:C537840", "MEDDRA:10064924", "SNOMEDCT:446079007", "medgen:345629", "icd11.foundation:459420954"], "information_content": 100.0}
{"id": "MONDO:0019725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pediatric systemic lupus erythematosus", "equivalent_identifiers": ["MONDO:0019725", "orphanet:93552", "UMLS:C1274834", "SNOMEDCT:403488004", "medgen:698153"], "information_content": 100.0}
{"id": "HP:0010915", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal circulating pyruvate family amino acid concentration", "equivalent_identifiers": ["HP:0010915", "UMLS:C4023655"], "information_content": 87.2}
{"id": "MONDO:0016378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal hyperthermia induced birth defects", "equivalent_identifiers": ["MONDO:0016378", "orphanet:2216", "UMLS:C4707329", "SNOMEDCT:765138001", "medgen:1631447", "icd11.foundation:1917022285"], "information_content": 100.0}
{"id": "MONDO:0100527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysplastic cortical hyperostosis, Kozlowski-Tsuruta type", "equivalent_identifiers": ["MONDO:0100527", "orphanet:2204", "UMLS:C5780027", "medgen:1830504"], "information_content": 100.0}
{"id": "HP:0031867", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neck hypertonia", "equivalent_identifiers": ["HP:0031867", "UMLS:C4703583"], "information_content": 100.0}
{"id": "HP:0012403", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Decreased urine alpha-ketoglutarate concentration", "equivalent_identifiers": ["HP:0012403", "UMLS:C4022914"], "information_content": 100.0}
{"id": "HP:0500243", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal CSF ornithine concentration", "equivalent_identifiers": ["HP:0500243", "UMLS:C5139628"], "information_content": 95.4}
{"id": "MONDO:0016353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma-spastic paralysis syndrome", "equivalent_identifiers": ["MONDO:0016353", "orphanet:2201", "UMLS:C2931828", "MESH:C538358", "SNOMEDCT:785725008", "medgen:444152"], "information_content": 100.0}
{"id": "MONDO:0018737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catastrophic antiphospholipid syndrome", "equivalent_identifiers": ["MONDO:0018737", "orphanet:464343", "UMLS:C3662487", "MEDDRA:10085687", "SNOMEDCT:609329007", "medgen:783641"], "information_content": 100.0}
{"id": "MONDO:0016366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal phenylketonuria", "equivalent_identifiers": ["MONDO:0016366", "orphanet:2209", "UMLS:C0085547", "MESH:D017042", "SNOMEDCT:297225000", "medgen:88435", "icd11.foundation:1509230254"], "information_content": 100.0}
{"id": "HP:0410346", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased urinary galactosylated oligosaccharide", "equivalent_identifiers": ["HP:0410346", "UMLS:C5139511"], "information_content": 100.0}
{"id": "HP:0010974", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abnormal myeloid leukocyte morphology", "equivalent_identifiers": ["HP:0010974", "UMLS:C4023618"], "information_content": 63.8}
{"id": "MONDO:0018566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature-advanced bone age-early-onset osteoarthritis syndrome", "equivalent_identifiers": ["MONDO:0018566", "orphanet:435804", "UMLS:C5681177", "SNOMEDCT:1197586007", "medgen:1811782"], "information_content": 100.0}
{"id": "MONDO:0015545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrophage activation syndrome", "equivalent_identifiers": ["MONDO:0015545", "orphanet:158061", "EFO:1001806", "UMLS:C1096155", "MESH:D055501", "MEDDRA:10053867", "NCIT:C114471", "SNOMEDCT:430478003", "medgen:242753"], "information_content": 100.0}
{"id": "MONDO:0018490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cono-spondylar dysplasia", "equivalent_identifiers": ["MONDO:0018490", "orphanet:420794", "UMLS:C4707860", "SNOMEDCT:766874001", "medgen:1638945"], "information_content": 100.0}
{"id": "MONDO:0018155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lateral sclerosis", "equivalent_identifiers": ["MONDO:0018155", "DOID:230", "orphanet:35689", "UMLS:C0154682", "MEDDRA:10036704", "NCIT:C129933", "SNOMEDCT:81211007", "medgen:57591", "icd11.foundation:1686688462", "ICD10:G12.23", "ICD9:335.24"], "information_content": 92.8}
{"id": "MONDO:0005714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital syphilis", "equivalent_identifiers": ["MONDO:0005714", "DOID:9856", "orphanet:499009", "EFO:0007219", "UMLS:C0039131", "MESH:D013590", "MEDDRA:10010641", "MEDDRA:10010642", "MEDDRA:10010655", "MEDDRA:10045710", "NCIT:C84649", "SNOMEDCT:35742006", "medgen:52622", "icd11.foundation:587996426", "ICD10:A50", "ICD9:090"], "information_content": 92.8}
{"id": "HP:0033782", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Semilunar tooth", "equivalent_identifiers": ["HP:0033782"], "information_content": 100.0}
{"id": "MONDO:0015544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired hemophagocytic lymphohistiocytosis associated with malignant disease", "equivalent_identifiers": ["MONDO:0015544", "orphanet:158057", "UMLS:C5190710", "SNOMEDCT:782915004", "medgen:1683300"], "information_content": 100.0}
{"id": "MONDO:0018736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kaposiform lymphangiomatosis", "equivalent_identifiers": ["MONDO:0018736", "orphanet:464329", "UMLS:C5681097", "SNOMEDCT:1228861004", "medgen:1807991", "icd11.foundation:1139222402"], "information_content": 100.0}
{"id": "MONDO:0019257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 2", "equivalent_identifiers": ["MONDO:0019257", "DOID:0111034", "orphanet:79230", "UMLS:C0268060", "MESH:C537247", "SNOMEDCT:50855007", "medgen:82769"], "information_content": 92.8}
{"id": "MONDO:0018735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MALT1 wt Allele", "equivalent_identifiers": ["MONDO:0018735", "orphanet:464321", "UMLS:C5575322", "NCIT:C60672", "SNOMEDCT:1208725005", "medgen:1804470"], "information_content": 100.0}
{"id": "HP:0025064", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thalamic hemorrhage", "equivalent_identifiers": ["HP:0025064", "UMLS:C0472376", "MEDDRA:10058939", "MEDDRA:10058964", "MEDDRA:10071896", "SNOMEDCT:230711001"], "information_content": 100.0}
{"id": "MONDO:0019365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scrub typhus", "equivalent_identifiers": ["MONDO:0019365", "DOID:13371", "orphanet:83317", "EFO:0007480", "UMLS:C0036472", "MESH:D012612", "MEDDRA:10039132", "MEDDRA:10039766", "MEDDRA:10044719", "SNOMEDCT:271425001", "medgen:48591", "icd11.foundation:1695340384", "ICD10:A75.3", "ICD9:081.2"], "information_content": 100.0}
{"id": "MONDO:0016484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 2", "equivalent_identifiers": ["MONDO:0016484", "DOID:0110827", "orphanet:231178", "UMLS:C0339534", "NCIT:C126328", "SNOMEDCT:232058008", "medgen:83288", "icd11.foundation:33632175"], "information_content": 90.9}
{"id": "MONDO:0024472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "boutonneuse fever", "equivalent_identifiers": ["MONDO:0024472", "DOID:14095", "orphanet:101334", "orphanet:83313", "UMLS:C0006060", "MESH:D001907", "MEDDRA:10006045", "MEDDRA:10039128", "MEDDRA:10057297", "SNOMEDCT:186774005", "medgen:14205", "icd11.foundation:1771381430", "ICD10:A77.1", "ICD9:082.1"], "information_content": 100.0}
{"id": "MONDO:0014176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies", "equivalent_identifiers": ["MONDO:0014176", "OMIM.PS:615419", "orphanet:371364", "UMLS:C4706556", "SNOMEDCT:763722004", "medgen:1642314"], "information_content": 90.9}
{"id": "orphanet:33069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dravet syndrome", "equivalent_identifiers": ["orphanet:33069"]}
{"id": "MONDO:0018210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alexander disease type II", "equivalent_identifiers": ["MONDO:0018210", "orphanet:363722", "UMLS:C5679914", "SNOMEDCT:1332388003", "medgen:1842714"], "information_content": 100.0}
{"id": "MONDO:0015826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant spondylocostal dysostosis", "equivalent_identifiers": ["MONDO:0015826", "orphanet:1797", "UMLS:C4274761", "SNOMEDCT:716232002", "medgen:902919"], "information_content": 100.0}
{"id": "MONDO:0015824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculomaxillofacial dysostosis", "equivalent_identifiers": ["MONDO:0015824", "orphanet:1794", "UMLS:C1838348", "MESH:C537736", "SNOMEDCT:763830009", "medgen:333072", "icd11.foundation:921026296"], "information_content": 95.4}
{"id": "MONDO:0018209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alexander disease type I", "equivalent_identifiers": ["MONDO:0018209", "orphanet:363717", "UMLS:C5769581", "SNOMEDCT:1259106002", "medgen:1820954"], "information_content": 100.0}
{"id": "HP:0004132", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dimple on nasal tip", "equivalent_identifiers": ["HP:0004132", "UMLS:C1863349"], "information_content": 100.0}
{"id": "MONDO:0019740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired thrombotic thrombocytopenic purpura", "equivalent_identifiers": ["MONDO:0019740", "orphanet:93585", "UMLS:C2584777", "UMLS:C2584778", "MESH:C536901", "NCIT:C131653", "SNOMEDCT:438476003", "SNOMEDCT:439007008", "medgen:391723"], "information_content": 100.0}
{"id": "HP:6000462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anti-ADAMTS13 antibody positivity", "equivalent_identifiers": ["HP:6000462", "UMLS:C5937231"], "information_content": 100.0}
{"id": "MONDO:0020675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ischemic bowel disorder", "equivalent_identifiers": ["MONDO:0020675", "UMLS:C2004435", "MEDDRA:10006054", "MEDDRA:10022680", "MEDDRA:10022681", "MEDDRA:10023028", "MEDDRA:10046220", "MEDDRA:10047082", "MEDDRA:10047083", "MEDDRA:10055747", "MEDDRA:10055748", "NCIT:C35212", "SNOMEDCT:82196007", "medgen:412148", "HP:0033404"], "information_content": 95.4}
{"id": "MONDO:0016485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 3", "equivalent_identifiers": ["MONDO:0016485", "DOID:0110828", "orphanet:231183", "UMLS:C1568248", "NCIT:C126329", "SNOMEDCT:1010610007", "medgen:339336", "icd11.foundation:1734357568"], "information_content": 90.9}
{"id": "MONDO:0034021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylodysplastic Ehlers-Danlos syndrome", "equivalent_identifiers": ["MONDO:0034021", "orphanet:536471", "UMLS:C5680154", "SNOMEDCT:1251488008", "medgen:1814455"], "information_content": 100.0}
{"id": "MONDO:0007396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysostosis, Stanescu type", "equivalent_identifiers": ["MONDO:0007396", "OMIM:122900", "orphanet:1798", "UMLS:C0432263", "MESH:C562974", "SNOMEDCT:254124008", "medgen:140931"], "information_content": 100.0}
{"id": "HP:0005665", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Massively thickened long bone cortices", "equivalent_identifiers": ["HP:0005665", "UMLS:C4025160"], "information_content": 100.0}
{"id": "MONDO:0012359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to partial RAG1 deficiency", "equivalent_identifiers": ["MONDO:0012359", "OMIM:609889", "orphanet:231154", "UMLS:C1835931", "UMLS:C4510944", "MESH:C563691", "SNOMEDCT:725290000", "medgen:372161"], "information_content": 100.0}
{"id": "MONDO:0035321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset familial hypoaldosteronism", "equivalent_identifiers": ["MONDO:0035321", "orphanet:556037", "UMLS:C5680172", "medgen:1843290"], "information_content": 100.0}
{"id": "MONDO:0018739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal alloimmune neutropenia", "equivalent_identifiers": ["MONDO:0018739", "orphanet:464370", "UMLS:C0272176", "SNOMEDCT:14333004", "medgen:543869"], "information_content": 100.0}
{"id": "MONDO:0009054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cutis laxa type 2, classic type", "equivalent_identifiers": ["MONDO:0009054", "DOID:0070141", "orphanet:357074", "UMLS:C5550995", "UMLS:C5679922", "MESH:C562632", "SNOMEDCT:73856006", "medgen:1825992"], "information_content": 100.0}
{"id": "MONDO:0020774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Menke-Hennekam syndrome", "equivalent_identifiers": ["MONDO:0020774", "OMIM.PS:618332", "orphanet:592574", "UMLS:C5681632", "SNOMEDCT:1260095004", "medgen:1814480"], "information_content": 92.8}
{"id": "MONDO:0008715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofrontofacionasal dysostosis", "equivalent_identifiers": ["MONDO:0008715", "DOID:0060226", "orphanet:1784", "UMLS:C1860118", "SNOMEDCT:720408003", "medgen:349729", "icd11.foundation:700995487"], "information_content": 92.8}
{"id": "MONDO:0019264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-N-acetylgalactosaminidase deficiency type 3", "equivalent_identifiers": ["MONDO:0019264", "DOID:0112320", "orphanet:79281", "UMLS:C5437471", "SNOMEDCT:880066000", "medgen:1772900", "icd11.foundation:1639349183"], "information_content": 100.0}
{"id": "MONDO:0009202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thakker-Donnai syndrome", "equivalent_identifiers": ["MONDO:0009202", "OMIM:227255", "orphanet:1780", "UMLS:C1856892", "UMLS:C2931219", "MESH:C536503", "MESH:C565579", "SNOMEDCT:773281008", "medgen:346465"], "information_content": 100.0}
{"id": "MONDO:0018253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-facial dysmorphism-hand anomalies syndrome", "equivalent_identifiers": ["MONDO:0018253", "orphanet:370010", "UMLS:C4750848", "SNOMEDCT:773416006", "medgen:1655582"], "information_content": 100.0}
{"id": "HP:0009644", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Curved distal phalanx of the thumb", "equivalent_identifiers": ["HP:0009644", "UMLS:C4024259", "SNOMEDCT:897240008"], "information_content": 100.0}
{"id": "HP:0010492", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osseous finger syndactyly", "equivalent_identifiers": ["HP:0010492", "UMLS:C0158736", "MEDDRA:10042779", "SNOMEDCT:2560006"], "information_content": 86.3}
{"id": "MONDO:0035320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset familial hypoaldosteronism", "equivalent_identifiers": ["MONDO:0035320", "orphanet:556030", "UMLS:C5680171", "medgen:1842560"], "information_content": 100.0}
{"id": "MONDO:0011154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis, Palagonia type", "equivalent_identifiers": ["MONDO:0011154", "DOID:0060385", "OMIM:601829", "orphanet:1787", "UMLS:C1866168", "MESH:C538185", "SNOMEDCT:720429007", "medgen:355645", "icd11.foundation:656294814"], "information_content": 100.0}
{"id": "MONDO:0010168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1", "equivalent_identifiers": ["MONDO:0010168", "DOID:0110826", "orphanet:231169", "UMLS:C1568247", "NCIT:C126327", "SNOMEDCT:232057003", "medgen:292820", "icd11.foundation:237039059"], "information_content": 84.2}
{"id": "MONDO:0017577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spontaneous periodic hypothermia", "equivalent_identifiers": ["MONDO:0017577", "orphanet:29822", "UMLS:C2931542", "MESH:C537594", "medgen:419438"], "information_content": 100.0}
{"id": "HP:0100046", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the 2nd toe", "equivalent_identifiers": ["HP:0100046", "UMLS:C4022375"], "information_content": 90.9}
{"id": "HP:0100057", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the 3rd toe", "equivalent_identifiers": ["HP:0100057", "UMLS:C4022364"], "information_content": 90.9}
{"id": "HP:0100068", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cone-shaped epiphyses of the 4th toe", "equivalent_identifiers": ["HP:0100068", "UMLS:C4022353"], "information_content": 90.9}
{"id": "MONDO:0017048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudomyxoma peritonei", "equivalent_identifiers": ["MONDO:0017048", "DOID:3559", "orphanet:26790", "EFO:0007456", "UMLS:C0033822", "MESH:D011553", "MEDDRA:10028666", "MEDDRA:10037138", "NCIT:C3345", "SNOMEDCT:112679004", "SNOMEDCT:307601000", "medgen:18726", "icd11.foundation:1849365560", "HP:0040414"], "information_content": 84.8}
{"id": "HP:0410153", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased level of methylsuccinic acid in urine", "equivalent_identifiers": ["HP:0410153", "UMLS:C4703648"], "information_content": 100.0}
{"id": "orphanet:1775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyskeratosis congenita", "equivalent_identifiers": ["orphanet:1775"]}
{"id": "HP:0031467", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NEUROTICISM", "equivalent_identifiers": ["HP:0031467", "UMLS:C1842981", "UMLS:C4531100", "MESH:D000075384"], "information_content": 89.4}
{"id": "MONDO:0015779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "45,X/46,XY mixed gonadal dysgenesis", "equivalent_identifiers": ["MONDO:0015779", "DOID:0080656", "orphanet:1772", "NCIT:C120199"], "information_content": 100.0}
{"id": "MONDO:0009302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "XY type gonadal dysgenesis-associated anomalies syndrome", "equivalent_identifiers": ["MONDO:0009302", "orphanet:1770", "UMLS:C1856272", "MESH:C565536", "SNOMEDCT:733605002", "medgen:344696"], "information_content": 100.0}
{"id": "HP:0008528", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ear hair", "equivalent_identifiers": ["HP:0008528", "UMLS:C0222050", "UMLS:C4024657", "SNOMEDCT:27394002"], "information_content": 100.0}
{"id": "HP:0032936", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intrusion symptom", "equivalent_identifiers": ["HP:0032936", "UMLS:C5397939"], "information_content": 89.4}
{"id": "HP:0500115", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Increased stool urobilinogen concentration", "equivalent_identifiers": ["HP:0500115", "UMLS:C4732886"], "information_content": 100.0}
{"id": "MONDO:0015782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysmorphism-cleft palate-loose skin syndrome", "equivalent_identifiers": ["MONDO:0015782", "orphanet:1779", "UMLS:C4706366", "SNOMEDCT:763278004", "medgen:1642311"], "information_content": 100.0}
{"id": "MONDO:0019263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal erythropoietic protoporphyria", "equivalent_identifiers": ["MONDO:0019263", "orphanet:79278"], "information_content": 92.8}
{"id": "MONDO:0015781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial dysmorphism-shawl scrotum-joint laxity syndrome", "equivalent_identifiers": ["MONDO:0015781", "orphanet:1778", "UMLS:C2931522", "MESH:C537529", "SNOMEDCT:716337006", "medgen:419099"], "information_content": 100.0}
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{"id": "OMIM:621270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "621270", "equivalent_identifiers": ["OMIM:621270"]}
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{"id": "MONDO:0020407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complete atrioventricular canal-ventricle hypoplasia syndrome", "equivalent_identifiers": ["MONDO:0020407", "orphanet:99067", "UMLS:C5680290", "medgen:1842918"], "information_content": 100.0}
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{"id": "MONDO:0018022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin Lepore-beta-thalassemia syndrome", "equivalent_identifiers": ["MONDO:0018022", "orphanet:330032", "UMLS:C5679855", "medgen:1826060"], "information_content": 100.0}
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{"id": "MONDO:0035529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "equivalent_identifiers": ["MONDO:0035529", "orphanet:572428", "UMLS:C5680364", "SNOMEDCT:1197476009", "medgen:1810375"], "information_content": 100.0}
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{"id": "NCBIGene:30012", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLX3", "equivalent_identifiers": ["NCBIGene:30012", "ENSEMBL:ENSG00000164438", "HGNC:13532", "OMIM:604640", "UMLS:C1422043", "UniProtKB:O43711", "PR:O43711", "ENSEMBL:ENSP00000296921", "ENSEMBL:ENSP00000296921.5", "UMLS:C1452164", "UMLS:C3273820", "MESH:C489494"], "information_content": 92.8}
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{"id": "NCBIGene:6957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin"], "name": "TRB", "equivalent_identifiers": ["NCBIGene:6957", "HGNC:12155", "UMLS:C0524891"]}
{"id": "NCBIGene:6955", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin"], "name": "TRA", "equivalent_identifiers": ["NCBIGene:6955", "HGNC:12027", "UMLS:C0524890"]}
{"id": "MONDO:0016539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hypotonia-cystinuria syndrome", "equivalent_identifiers": ["MONDO:0016539", "orphanet:238523", "UMLS:C4755274", "SNOMEDCT:778025006", "medgen:1668791", "icd11.foundation:1982772708"], "information_content": 100.0}
{"id": "NCBIGene:79823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMKMT", "equivalent_identifiers": ["NCBIGene:79823", "ENSEMBL:ENSG00000143919", "HGNC:26276", "OMIM:609559", "UMLS:C1824103", "UniProtKB:Q7Z624", "PR:Q7Z624", "UMLS:C2744330"], "information_content": 90.9}
{"id": "MONDO:0035679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Timothy syndrome type 2", "equivalent_identifiers": ["MONDO:0035679", "orphanet:595105", "UMLS:C4304347", "medgen:930016"], "information_content": 100.0}
{"id": "MONDO:0021172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Timothy syndrome, atypical type", "equivalent_identifiers": ["MONDO:0021172", "orphanet:595109", "UMLS:C5575746", "SNOMEDCT:1230097004", "SNOMEDCT:719907006", "medgen:1805271"], "information_content": 100.0}
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{"id": "NCBIGene:5327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLAT", "equivalent_identifiers": ["NCBIGene:5327", "ENSEMBL:ENSG00000104368", "HGNC:9051", "OMIM:173370", "UMLS:C1367601", "UniProtKB:B4DN26", "ENSEMBL:ENSP00000429401", "ENSEMBL:ENSP00000429401.1", "UniProtKB:P00750", "PR:P00750", "UMLS:C0084796", "MESH:C067262"], "information_content": 68.5}
{"id": "MONDO:0018810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal hydranencephaly-diaphragmatic hernia syndrome", "equivalent_identifiers": ["MONDO:0018810", "orphanet:480528", "UMLS:C5567527", "SNOMEDCT:1172705006", "medgen:1798950"], "information_content": 100.0}
{"id": "NCBIGene:3170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXA2", "equivalent_identifiers": ["NCBIGene:3170", "ENSEMBL:ENSG00000125798", "HGNC:5022", "OMIM:600288", "UMLS:C1415627", "UniProtKB:B0ZTD4", "UniProtKB:Q9Y261", "PR:Q9Y261", "UMLS:C1506608", "MESH:C496502"], "information_content": 90.9}
{"id": "orphanet:238505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "238505", "equivalent_identifiers": ["orphanet:238505"]}
{"id": "MONDO:0018813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement", "equivalent_identifiers": ["MONDO:0018813", "orphanet:480541", "UMLS:C4524190", "MEDDRA:10080217", "NCIT:C138195", "SNOMEDCT:1172704005", "SNOMEDCT:786909001", "medgen:1617477"], "information_content": 82.1}
{"id": "NCBIGene:604", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL6", "equivalent_identifiers": ["NCBIGene:604", "ENSEMBL:ENSG00000113916", "HGNC:1001", "OMIM:109565", "UMLS:C1332399", "UniProtKB:B5B0A5", "UniProtKB:P41182", "PR:P41182", "UMLS:C1448774", "MESH:C084103"], "information_content": 90.9}
{"id": "MONDO:0035706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome", "equivalent_identifiers": ["MONDO:0035706", "orphanet:597743", "UMLS:C5681587", "SNOMEDCT:1300119004", "medgen:1843293"], "information_content": 100.0}
{"id": "MONDO:0016216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult hepatocellular carcinoma", "equivalent_identifiers": ["MONDO:0016216", "DOID:0070328", "orphanet:210159", "UMLS:C0279607", "NCIT:C7956", "SNOMEDCT:1197204009", "medgen:124633"], "information_content": 83.6}
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{"id": "NCBIGene:135656", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUCL3", "equivalent_identifiers": ["NCBIGene:135656", "ENSEMBL:ENSG00000168631", "HGNC:21666", "OMIM:613928", "UMLS:C1427687", "UniProtKB:E9PEI6", "ENSEMBL:ENSP00000417182", "ENSEMBL:ENSP00000417182.1", "UMLS:C1143862", "MESH:C466100", "UniProtKB:Q3MIW9", "PR:Q3MIW9"], "information_content": 90.9}
{"id": "MONDO:0017992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis", "equivalent_identifiers": ["MONDO:0017992", "orphanet:329173", "UMLS:C5394674", "SNOMEDCT:829973009", "medgen:1720168"], "information_content": 100.0}
{"id": "MONDO:0015798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory myofibroblastic tumor", "equivalent_identifiers": ["MONDO:0015798", "DOID:0050905", "orphanet:178342", "UMLS:C0018199", "UMLS:C0334121", "MESH:D006104", "MEDDRA:10067917", "MEDDRA:10067918", "MEDDRA:10068331", "MEDDRA:10068332", "NCIT:C3069", "NCIT:C6481", "SNOMEDCT:1290860006", "SNOMEDCT:21971004", "SNOMEDCT:35073002", "SNOMEDCT:771233008", "medgen:137723"], "information_content": 79.0}
{"id": "MONDO:0017226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelizaeus-Merzbacher-like disease", "equivalent_identifiers": ["MONDO:0017226", "orphanet:280270", "UMLS:C4274084", "SNOMEDCT:717042001", "medgen:894734", "icd11.foundation:1101042369"], "information_content": 90.9}
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{"id": "NCBIGene:8320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EOMES", "equivalent_identifiers": ["NCBIGene:8320", "ENSEMBL:ENSG00000163508", "HGNC:3372", "OMIM:604615", "UMLS:C1414420", "UniProtKB:B7Z4K0", "UMLS:C1454790", "MESH:C491199", "UniProtKB:O95936", "PR:O95936", "UMLS:C3641001"], "information_content": 86.3}
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{"id": "orphanet:98676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "98676", "equivalent_identifiers": ["orphanet:98676"]}
{"id": "MONDO:0015746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "male infertility due to globozoospermia", "equivalent_identifiers": ["MONDO:0015746", "DOID:0112312", "orphanet:171709", "UMLS:C5679591", "medgen:1826006"], "information_content": 92.8}
{"id": "NCBIGene:9463", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PICK1", "equivalent_identifiers": ["NCBIGene:9463", "ENSEMBL:ENSG00000100151", "HGNC:9394", "OMIM:605926", "UMLS:C1826583", "UniProtKB:Q9NRD5", "PR:Q9NRD5", "UMLS:C4521284"], "information_content": 89.4}
{"id": "NCBIGene:57120", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOPC", "equivalent_identifiers": ["NCBIGene:57120", "ENSEMBL:ENSG00000047932", "HGNC:17643", "OMIM:606845", "UMLS:C1425021", "UniProtKB:Q9HD26", "PR:Q9HD26", "UMLS:C1432250", "UMLS:C3273483", "MESH:C434484"], "information_content": 87.2}
{"id": "orphanet:65748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "65748", "equivalent_identifiers": ["orphanet:65748"]}
{"id": "MONDO:0019971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanoma of soft tissue", "equivalent_identifiers": ["MONDO:0019971", "orphanet:97338"], "information_content": 100.0}
{"id": "NCBIGene:466", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATF1", "equivalent_identifiers": ["NCBIGene:466", "ENSEMBL:ENSG00000123268", "HGNC:783", "OMIM:123803", "UMLS:C1412615", "UniProtKB:P18846", "PR:P18846", "UMLS:C1448628", "UMLS:C2984895", "MESH:C531110"], "information_content": 89.4}
{"id": "orphanet:141074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "141074", "equivalent_identifiers": ["orphanet:141074"]}
{"id": "NCBIGene:205717", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USF3", "equivalent_identifiers": ["NCBIGene:205717", "ENSEMBL:ENSG00000176542", "HGNC:30494", "OMIM:617568", "UMLS:C4085399", "UniProtKB:Q68DE3", "PR:Q68DE3", "ENSEMBL:ENSP00000320794", "ENSEMBL:ENSP00000320794.4", "ENSEMBL:ENSP00000420721", "ENSEMBL:ENSP00000420721.1", "UMLS:C4522229", "UMLS:C4550016", "MESH:C000622661"], "information_content": 90.9}
{"id": "MONDO:0020569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intermediate DEND syndrome", "equivalent_identifiers": ["MONDO:0020569", "orphanet:99989", "UMLS:C5680423", "SNOMEDCT:1303868000", "medgen:1843317"], "information_content": 100.0}
{"id": "MONDO:0015555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plaque-form urticaria pigmentosa", "equivalent_identifiers": ["MONDO:0015555", "orphanet:158769", "UMLS:C5680682", "medgen:1843438"], "information_content": 100.0}
{"id": "MONDO:0015554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "typical urticaria pigmentosa", "equivalent_identifiers": ["MONDO:0015554", "orphanet:158766", "UMLS:C5680683", "medgen:1843439"], "information_content": 100.0}
{"id": "NCBIGene:7373", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL14A1", "equivalent_identifiers": ["NCBIGene:7373", "ENSEMBL:ENSG00000187955", "HGNC:2191", "OMIM:120324", "UMLS:C1413574", "UniProtKB:Q05707", "PR:Q05707", "UMLS:C1610192", "MESH:C054447"], "information_content": 78.0}
{"id": "MONDO:0017833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hypereosinophilic syndrome", "equivalent_identifiers": ["MONDO:0017833", "orphanet:314950", "UMLS:C5679898", "SNOMEDCT:1264010001", "medgen:1830089"], "information_content": 100.0}
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{"id": "NCBIGene:10144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM13A", "equivalent_identifiers": ["NCBIGene:10144", "ENSEMBL:ENSG00000138640", "HGNC:19367", "OMIM:613299", "UMLS:C1426195", "UniProtKB:O94988", "PR:O94988", "UMLS:C2983547", "UMLS:C3490225", "MESH:C570078"], "information_content": 87.2}
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{"id": "NCBIGene:1581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP7A1", "equivalent_identifiers": ["NCBIGene:1581", "ENSEMBL:ENSG00000167910", "HGNC:2651", "OMIM:118455", "UMLS:C1413893", "UniProtKB:P22680", "PR:P22680", "ENSEMBL:ENSP00000301645", "ENSEMBL:ENSP00000301645.3", "UMLS:C2976704", "MESH:C553219"], "information_content": 95.4}
{"id": "MONDO:0017149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug- or toxin-induced pulmonary arterial hypertension", "equivalent_identifiers": ["MONDO:0017149", "orphanet:275786", "EFO:0009192", "UMLS:C0340544", "SNOMEDCT:233945002", "medgen:573792"], "information_content": 100.0}
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{"id": "NCBIGene:3492", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin"], "name": "IGH", "equivalent_identifiers": ["NCBIGene:3492", "HGNC:5477", "OMIM:146910", "UMLS:C0017351"]}
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{"id": "orphanet:275798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "275798", "equivalent_identifiers": ["orphanet:275798"]}
{"id": "NCBIGene:9940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DLEC1", "equivalent_identifiers": ["NCBIGene:9940", "ENSEMBL:ENSG00000008226", "HGNC:2899", "OMIM:604050", "UMLS:C1333219", "UniProtKB:B1B5Y4", "UniProtKB:Q9Y238", "PR:Q9Y238", "UMLS:C1309070", "MESH:C119064"], "information_content": 87.2}
{"id": "MONDO:0020563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dedifferentiated liposarcoma", "equivalent_identifiers": ["MONDO:0020563", "DOID:0080531", "orphanet:99970", "EFO:0003085", "UMLS:C0205824", "MEDDRA:10073135", "NCIT:C3704", "SNOMEDCT:404072004", "SNOMEDCT:67280001", "medgen:60028"], "information_content": 86.3}
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{"id": "NCBIGene:1649", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDIT3", "equivalent_identifiers": ["NCBIGene:1649", "ENSEMBL:ENSG00000175197", "HGNC:2726", "OMIM:126337", "UMLS:C1413947", "UniProtKB:P35638", "PR:P35638", "UMLS:C0170521", "MESH:C497249", "UniProtKB:Q53YD1"], "information_content": 92.8}
{"id": "MONDO:0018829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial schizencephaly", "equivalent_identifiers": ["MONDO:0018829", "orphanet:481986", "UMLS:C2931870", "MESH:C538514", "medgen:419186"], "information_content": 100.0}
{"id": "MONDO:0016864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Okihiro syndrome due to a point mutation", "equivalent_identifiers": ["MONDO:0016864", "orphanet:261647", "UMLS:C5679683", "medgen:1842838"], "information_content": 100.0}
{"id": "MONDO:0015351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy with hearing impairment", "equivalent_identifiers": ["MONDO:0015351", "orphanet:139512", "UMLS:C4509933", "SNOMEDCT:723497003", "medgen:1375726", "icd11.foundation:129297527"], "information_content": 100.0}
{"id": "MONDO:0035525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BPES type 2", "equivalent_identifiers": ["MONDO:0035525", "orphanet:572361", "UMLS:C5680363", "medgen:1842581"], "information_content": 100.0}
{"id": "NCBIGene:3501", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin"], "name": "IGHG2", "equivalent_identifiers": ["NCBIGene:3501", "OMIM:147110"]}
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{"id": "MONDO:0018742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial gastric type 1 neuroendocrine tumor", "equivalent_identifiers": ["MONDO:0018742", "orphanet:464756", "UMLS:C5681095", "SNOMEDCT:1264340007", "medgen:1826112"], "information_content": 100.0}
{"id": "MONDO:0035499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CELSR1-related late-onset primary lymphedema", "equivalent_identifiers": ["MONDO:0035499", "orphanet:569816", "UMLS:C5681848", "SNOMEDCT:1222668001", "medgen:1802645"], "information_content": 100.0}
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{"id": "MONDO:0017683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylcobalamin deficiency type cblDv1", "equivalent_identifiers": ["MONDO:0017683", "orphanet:308380", "UMLS:C5679956", "medgen:1826168"], "information_content": 100.0}
{"id": "MONDO:0044638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopharynx squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0044638", "orphanet:494547", "EFO:1001960", "UMLS:C0280321", "MEDDRA:10041849", "NCIT:C4043", "medgen:79102", "icd11.foundation:680629191"], "information_content": 79.6}
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{"id": "MONDO:0100600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome", "equivalent_identifiers": ["MONDO:0100600", "orphanet:137639"], "information_content": 100.0}
{"id": "MONDO:0957443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive ataxia due to PEX2 deficiency", "equivalent_identifiers": ["MONDO:0957443", "orphanet:642965", "UMLS:C5816796", "medgen:1843414"], "information_content": 100.0}
{"id": "MONDO:0034204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic congenital sodium diarrhea", "equivalent_identifiers": ["MONDO:0034204", "orphanet:563708", "UMLS:C5680120", "SNOMEDCT:1222709003", "medgen:1805017"], "information_content": 100.0}
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{"id": "MONDO:0015349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive cavitating leukoencephalopathy", "equivalent_identifiers": ["MONDO:0015349", "orphanet:139447", "UMLS:C4304840", "SNOMEDCT:719267003", "medgen:930509", "icd11.foundation:340540374"], "information_content": 100.0}
{"id": "MONDO:0036045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "euthyroid dysprealbuminemic hyperthyroxinemia", "equivalent_identifiers": ["MONDO:0036045", "orphanet:597939", "UMLS:C5680265", "medgen:1842463"], "information_content": 100.0}
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{"id": "MONDO:0016533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apolipoprotein A-II amyloidosis", "equivalent_identifiers": ["MONDO:0016533", "orphanet:238269", "UMLS:C5679845", "medgen:1842484"], "information_content": 100.0}
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{"id": "MONDO:0005224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute myeloblastic leukemia without maturation", "equivalent_identifiers": ["MONDO:0005224", "DOID:0081086", "orphanet:98833", "EFO:0003027", "UMLS:C0026998", "NCIT:C3249", "SNOMEDCT:103690005", "SNOMEDCT:359640008", "medgen:10232"], "information_content": 92.8}
{"id": "MONDO:0020320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute myeloblastic leukemia with maturation", "equivalent_identifiers": ["MONDO:0020320", "DOID:0081087", "orphanet:98834", "EFO:0003028", "UMLS:C1879321", "NCIT:C3250", "SNOMEDCT:103691009", "SNOMEDCT:359648001", "medgen:361829"], "information_content": 92.8}
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{"id": "MONDO:0017401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALVC", "equivalent_identifiers": ["MONDO:0017401", "DOID:0070534", "orphanet:293888", "UMLS:C5925017", "medgen:1863454"], "information_content": 100.0}
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{"id": "MONDO:0008004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial mitral valve prolapse", "equivalent_identifiers": ["MONDO:0008004", "OMIM.PS:157700", "orphanet:741", "UMLS:C0340364", "SNOMEDCT:233858000", "medgen:573696"], "information_content": 90.9}
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{"id": "MONDO:0850069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hyperinflammatory lymphoproliferative immunodeficiency", "equivalent_identifiers": ["MONDO:0850069", "orphanet:619953", "UMLS:C5680415", "SNOMEDCT:1351853000", "medgen:1842618"], "information_content": 100.0}
{"id": "NCBIGene:1399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRKL", "equivalent_identifiers": ["NCBIGene:1399", "ENSEMBL:ENSG00000099942", "HGNC:2363", "OMIM:602007", "UMLS:C0812253", "UniProtKB:P46109", "PR:P46109", "ENSEMBL:ENSP00000346300", "ENSEMBL:ENSP00000346300.3", "ENSEMBL:ENSP00000396646", "ENSEMBL:ENSP00000396646.1", "UMLS:C0219488", "MESH:C082869"], "information_content": 89.4}
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{"id": "NCBIGene:55914", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERBIN", "equivalent_identifiers": ["NCBIGene:55914", "ENSEMBL:ENSG00000112851", "HGNC:15842", "OMIM:606944", "UMLS:C1333352", "UniProtKB:A0A8V8TML4", "ENSEMBL:ENSP00000514089", "ENSEMBL:ENSP00000514089.1", "UniProtKB:A0A8V8TPC7", "ENSEMBL:ENSP00000514083", "ENSEMBL:ENSP00000514083.1", "UniProtKB:Q96RT1", "PR:Q96RT1", "UMLS:C1447765", "MESH:C413364"], "information_content": 81.3}
{"id": "MONDO:0958120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant combined immunodeficiency due to ERBIN deficiency", "equivalent_identifiers": ["MONDO:0958120", "orphanet:656912", "UMLS:C5925110", "SNOMEDCT:1351324009", "medgen:1863785"], "information_content": 100.0}
{"id": "MONDO:0019662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short rib-polydactyly syndrome, Majewski type", "equivalent_identifiers": ["MONDO:0019662", "orphanet:93269", "SNOMEDCT:72922008", "icd11.foundation:132740256"], "information_content": 95.4}
{"id": "MONDO:0850070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CADINS disease", "equivalent_identifiers": ["MONDO:0850070", "orphanet:619972", "UMLS:C5680417", "SNOMEDCT:1336113009", "medgen:1842902"], "information_content": 100.0}
{"id": "NCBIGene:9630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNA14", "equivalent_identifiers": ["NCBIGene:9630", "ENSEMBL:ENSG00000156049", "HGNC:4382", "OMIM:604397", "UMLS:C1415140", "UniProtKB:O95837", "PR:O95837", "ENSEMBL:ENSP00000365807", "ENSEMBL:ENSP00000365807.4", "UMLS:C1309073", "MESH:C119109"], "information_content": 92.8}
{"id": "MONDO:0017695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form", "equivalent_identifiers": ["MONDO:0017695", "orphanet:308621", "UMLS:C5679972", "medgen:1826169"], "information_content": 100.0}
{"id": "MONDO:0020360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complete cryptophthalmia", "equivalent_identifiers": ["MONDO:0020360", "DOID:0111719", "orphanet:98949", "UMLS:C5437887", "SNOMEDCT:890406007", "medgen:1773866", "icd11.foundation:162797488"], "information_content": 100.0}
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{"id": "MONDO:0019628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rieger anomaly", "equivalent_identifiers": ["MONDO:0019628", "orphanet:91483", "medgen:78558"], "information_content": 95.4}
{"id": "MONDO:0016302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated congenitally uncorrected transposition of the great arteries", "equivalent_identifiers": ["MONDO:0016302", "orphanet:216718", "UMLS:C5679810", "medgen:1842921"], "information_content": 100.0}
{"id": "MONDO:0018369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immature ovarian teratoma", "equivalent_identifiers": ["MONDO:0018369", "DOID:6331", "orphanet:398987", "UMLS:C0346182", "UMLS:C4724097", "NCIT:C39995", "NCIT:C8111", "SNOMEDCT:254871000", "medgen:138044", "icd11.foundation:551209361"], "information_content": 92.8}
{"id": "MONDO:0975911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticular dysgenesis-like severe combined immunodeficiency", "equivalent_identifiers": ["MONDO:0975911", "orphanet:688543"], "information_content": 100.0}
{"id": "MONDO:0018485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to acid maltase deficiency, late-onset", "equivalent_identifiers": ["MONDO:0018485", "orphanet:420429", "UMLS:C0342753", "SNOMEDCT:722343009", "medgen:575206"], "information_content": 100.0}
{"id": "MONDO:0017096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FCD type Ia", "equivalent_identifiers": ["MONDO:0017096", "orphanet:268973", "UMLS:C5679767", "medgen:1843115"], "information_content": 100.0}
{"id": "MONDO:0017403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated arrhythmogenic ventricular dysplasia, right dominant form", "equivalent_identifiers": ["MONDO:0017403", "orphanet:293910", "UMLS:C5925015", "medgen:1864032"], "information_content": 100.0}
{"id": "MONDO:0017187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency", "equivalent_identifiers": ["MONDO:0017187", "orphanet:276598", "UMLS:C5191059", "SNOMEDCT:783740007", "medgen:1683284"], "information_content": 100.0}
{"id": "MONDO:0017238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobinopathy Toms River", "equivalent_identifiers": ["MONDO:0017238", "orphanet:280615", "UMLS:C5190689", "SNOMEDCT:782880001", "medgen:1683555"], "information_content": 100.0}
{"id": "MONDO:0017239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial progressive hyper- and hypopigmentation", "equivalent_identifiers": ["MONDO:0017239", "orphanet:280628", "UMLS:C4706423", "SNOMEDCT:763368004", "medgen:1643385", "icd11.foundation:1229773662"], "information_content": 100.0}
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{"id": "MONDO:0018339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PrP systemic amyloidosis", "equivalent_identifiers": ["MONDO:0018339", "orphanet:397606", "UMLS:C4518776", "SNOMEDCT:733422008", "medgen:1377371"], "information_content": 100.0}
{"id": "MONDO:0035441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital autosomal recessive small-platelet thrombocytopenia", "equivalent_identifiers": ["MONDO:0035441", "orphanet:566192", "UMLS:C5680129", "SNOMEDCT:1208617001", "medgen:1802913"], "information_content": 100.0}
{"id": "orphanet:280654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "280654", "equivalent_identifiers": ["orphanet:280654"]}
{"id": "MONDO:0019487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy with myoclonic absences", "equivalent_identifiers": ["MONDO:0019487", "orphanet:86911", "UMLS:C0393703", "SNOMEDCT:230422001", "medgen:140741", "icd11.foundation:274380122"], "information_content": 100.0}
{"id": "NCBIGene:57194", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP10A", "equivalent_identifiers": ["NCBIGene:57194", "ENSEMBL:ENSG00000206190", "HGNC:13542", "OMIM:605855", "UMLS:C1422052", "UniProtKB:O60312", "PR:O60312", "UMLS:C0966331", "MESH:C426648"], "information_content": 85.5}
{"id": "MONDO:0018137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "temperature-sensitive oculocutaneous albinism type 1", "equivalent_identifiers": ["MONDO:0018137", "orphanet:352737", "UMLS:C1847132", "MESH:C564645", "medgen:337736"], "information_content": 100.0}
{"id": "MONDO:0018136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MP OCA type 1", "equivalent_identifiers": ["MONDO:0018136", "orphanet:352734", "UMLS:C0342681", "UMLS:C5679923", "SNOMEDCT:237919007", "medgen:1842241"], "information_content": 100.0}
{"id": "MONDO:0017724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tay-Sachs disease, b variant, infantile form", "equivalent_identifiers": ["MONDO:0017724", "orphanet:309178", "UMLS:C0342809", "UMLS:C5925031", "SNOMEDCT:238021002", "medgen:1863558"], "information_content": 100.0}
{"id": "MONDO:0035639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)", "equivalent_identifiers": ["MONDO:0035639", "orphanet:589534", "UMLS:C2826037", "NCIT:C82192", "SNOMEDCT:1153377008", "SNOMEDCT:450914009", "medgen:414807"], "information_content": 78.0}
{"id": "orphanet:436151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "436151", "equivalent_identifiers": ["orphanet:436151"]}
{"id": "orphanet:576227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "576227", "equivalent_identifiers": ["orphanet:576227"]}
{"id": "orphanet:404560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "404560", "equivalent_identifiers": ["orphanet:404560"]}
{"id": "MONDO:0019075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bosley-Salih-Alorainy syndrome", "equivalent_identifiers": ["MONDO:0019075", "orphanet:69737", "UMLS:C1832216", "SNOMEDCT:720567008", "medgen:321908", "icd11.foundation:1771217937"], "information_content": 100.0}
{"id": "MONDO:0018832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HTRA1-related autosomal dominant cerebral small vessel disease", "equivalent_identifiers": ["MONDO:0018832", "orphanet:482077", "UMLS:C5568568", "SNOMEDCT:1186724002", "medgen:1799991"], "information_content": 100.0}
{"id": "MONDO:0013311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia-syndactyly syndrome", "equivalent_identifiers": ["MONDO:0013311", "OMIM.PS:613573", "orphanet:247820", "UMLS:C4749852", "SNOMEDCT:771335004", "medgen:1648397"], "information_content": 92.8}
{"id": "NCBIGene:55109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGGF1", "equivalent_identifiers": ["NCBIGene:55109", "ENSEMBL:ENSG00000164252", "HGNC:24684", "OMIM:608464", "UMLS:C1540193", "UniProtKB:Q8N302", "PR:Q8N302", "UMLS:C1435333", "MESH:C482200"], "information_content": 89.4}
{"id": "NCBIGene:79184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BRCC3", "equivalent_identifiers": ["NCBIGene:79184", "ENSEMBL:ENSG00000185515", "HGNC:24185", "OMIM:300617", "UMLS:C1826632", "UniProtKB:P46736", "PR:P46736", "UMLS:C1872069", "MESH:C518017"], "information_content": 86.3}
{"id": "MONDO:0035122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder", "equivalent_identifiers": ["MONDO:0035122", "orphanet:589547", "UMLS:C5681638", "SNOMEDCT:1260195002", "medgen:1830118"], "information_content": 100.0}
{"id": "orphanet:576232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "576232", "equivalent_identifiers": ["orphanet:576232"]}
{"id": "orphanet:576235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "576235", "equivalent_identifiers": ["orphanet:576235"]}
{"id": "MONDO:0019202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myxofibrosarcoma", "equivalent_identifiers": ["MONDO:0019202", "DOID:0080534", "orphanet:79105", "UMLS:C0334454", "UMLS:C3714524", "MEDDRA:10066948", "NCIT:C38106", "NCIT:C6496", "SNOMEDCT:253042009", "SNOMEDCT:703609007", "medgen:811359", "icd11.foundation:405689402"], "information_content": 86.3}
{"id": "NCBIGene:64764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CREB3L2", "equivalent_identifiers": ["NCBIGene:64764", "ENSEMBL:ENSG00000182158", "HGNC:23720", "OMIM:608834", "UMLS:C1428221", "UniProtKB:Q70SY1", "PR:Q70SY1", "UMLS:C2987178"], "information_content": 87.2}
{"id": "MONDO:0015526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cold-induced sweating syndrome", "equivalent_identifiers": ["MONDO:0015526", "DOID:0060294", "OMIM.PS:272430", "orphanet:157820", "UMLS:C1832409", "SNOMEDCT:702363009", "medgen:321950", "icd11.foundation:1884908195"], "information_content": 90.9}
{"id": "MONDO:0017726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tay-Sachs disease, B variant, adult form", "equivalent_identifiers": ["MONDO:0017726", "orphanet:309192", "UMLS:C0342811", "UMLS:C1848914", "MESH:C564783", "SNOMEDCT:238023004", "medgen:336450"], "information_content": 100.0}
{"id": "MONDO:0044647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome", "equivalent_identifiers": ["MONDO:0044647", "orphanet:496686", "UMLS:C5567453", "SNOMEDCT:1172591008", "medgen:1798876"], "information_content": 100.0}
{"id": "NCBIGene:8218", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLTCL1", "equivalent_identifiers": ["NCBIGene:8218", "ENSEMBL:ENSG00000070371", "HGNC:2093", "OMIM:601273", "UMLS:C1413513", "UniProtKB:A0A087WX41", "ENSEMBL:ENSP00000480709", "ENSEMBL:ENSP00000480709.1", "UniProtKB:P53675", "PR:P53675", "UMLS:C1307793", "UMLS:C3273405", "MESH:C101272"], "information_content": 83.6}
{"id": "MONDO:0035642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed phenotype acute leukemia with t(v;11q23.3)", "equivalent_identifiers": ["MONDO:0035642", "orphanet:589595", "UMLS:C2826048", "NCIT:C82203", "SNOMEDCT:450915005", "medgen:443130"], "information_content": 92.8}
{"id": "NCBIGene:4299", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AFF1", "equivalent_identifiers": ["NCBIGene:4299", "ENSEMBL:ENSG00000172493", "HGNC:7135", "OMIM:159557", "UMLS:C1826604", "UniProtKB:B4DJU9", "UMLS:C1504720", "MESH:C081449", "UniProtKB:P51825", "PR:P51825", "UMLS:C0216703", "UniProtKB:Q14C88"], "information_content": 86.3}
{"id": "MONDO:0015721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mild hemophilia A", "equivalent_identifiers": ["MONDO:0015721", "orphanet:169808", "UMLS:C0272324", "SNOMEDCT:26029002", "medgen:543975"], "information_content": 100.0}
{"id": "MONDO:0017725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tay-Sachs disease, b variant, juvenile form", "equivalent_identifiers": ["MONDO:0017725", "orphanet:309185", "UMLS:C0342810", "UMLS:C5925030", "SNOMEDCT:238022009", "medgen:1863740"], "information_content": 100.0}
{"id": "MONDO:0017051", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic maple syrup urine disease", "equivalent_identifiers": ["MONDO:0017051", "orphanet:268145", "UMLS:C0268568", "SNOMEDCT:54064006", "medgen:78689"], "information_content": 100.0}
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{"id": "MONDO:0015048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 2", "equivalent_identifiers": ["MONDO:0015048", "orphanet:100033", "UMLS:C0399372", "MESH:C536606", "SNOMEDCT:109475005", "medgen:97994"], "information_content": 86.3}
{"id": "MONDO:0017700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form", "equivalent_identifiers": ["MONDO:0017700", "orphanet:308698", "UMLS:C1856305", "MESH:C565543", "medgen:343524"], "information_content": 100.0}
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{"id": "MONDO:0017382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial clubfoot due to 5q31 microdeletion", "equivalent_identifiers": ["MONDO:0017382", "orphanet:293144", "UMLS:C5679944", "medgen:1826065"], "information_content": 100.0}
{"id": "MONDO:0018450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy with respiratory distress type 2", "equivalent_identifiers": ["MONDO:0018450", "orphanet:404521", "UMLS:C4749434", "SNOMEDCT:770727008", "medgen:1658540"], "information_content": 100.0}
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{"id": "MONDO:0016839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 17p13.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0016839", "orphanet:261257", "UMLS:C4707092", "SNOMEDCT:764696007", "medgen:1643975"], "information_content": 100.0}
{"id": "MONDO:0015040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelodysplastic syndrome with excess blasts-1", "equivalent_identifiers": ["MONDO:0015040", "orphanet:100019", "UMLS:C1318550", "MEDDRA:10088028", "SNOMEDCT:397338009", "SNOMEDCT:415283002", "medgen:231145"], "information_content": 100.0}
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{"id": "NCBIGene:1030", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKN2B", "equivalent_identifiers": ["NCBIGene:1030", "ENSEMBL:ENSG00000147883", "HGNC:1788", "OMIM:600431", "UMLS:C0809183", "UniProtKB:K7PPU3", "UMLS:C0380274", "MESH:C493966", "UniProtKB:P42772", "PR:P42772", "UMLS:C0249219"], "information_content": 88.2}
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{"id": "NCBIGene:1026", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKN1A", "equivalent_identifiers": ["NCBIGene:1026", "ENSEMBL:ENSG00000124762", "HGNC:1784", "OMIM:116899", "UMLS:C0249197", "UniProtKB:P38936", "PR:P38936", "ENSEMBL:ENSP00000244741", "ENSEMBL:ENSP00000244741.6", "ENSEMBL:ENSP00000362815", "ENSEMBL:ENSP00000362815.1", "ENSEMBL:ENSP00000384849", "ENSEMBL:ENSP00000384849.1", "ENSEMBL:ENSP00000409259", "ENSEMBL:ENSP00000409259.3", "ENSEMBL:ENSP00000482768", "ENSEMBL:ENSP00000482768.1", "UMLS:C1529821", "MESH:C493956"], "information_content": 84.8}
{"id": "NCBIGene:1031", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKN2C", "equivalent_identifiers": ["NCBIGene:1031", "ENSEMBL:ENSG00000123080", "HGNC:1789", "OMIM:603369", "UMLS:C1332738", "UniProtKB:P42773", "PR:P42773", "ENSEMBL:ENSP00000262662", "ENSEMBL:ENSP00000262662.1", "ENSEMBL:ENSP00000360826", "ENSEMBL:ENSP00000360826.3", "ENSEMBL:ENSP00000379452", "ENSEMBL:ENSP00000379452.1", "UMLS:C1529959", "MESH:C493971", "UniProtKB:Q6ICV4"], "information_content": 92.8}
{"id": "NCBIGene:5922", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RASA2", "equivalent_identifiers": ["NCBIGene:5922", "ENSEMBL:ENSG00000155903", "HGNC:9872", "OMIM:601589", "UMLS:C1419278", "UniProtKB:Q15283", "PR:Q15283", "UMLS:C0531365", "UMLS:C5444597", "MESH:C102193"], "information_content": 88.2}
{"id": "MONDO:0011882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin fragility-woolly hair-palmoplantar keratoderma syndrome", "equivalent_identifiers": ["MONDO:0011882", "orphanet:293165", "UMLS:C4755263", "MESH:C564359", "SNOMEDCT:778010006", "medgen:1659950"], "information_content": 100.0}
{"id": "MONDO:0017383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial clubfoot due to PITX1 point mutation", "equivalent_identifiers": ["MONDO:0017383", "orphanet:293150", "UMLS:C5679943", "NCIT:C188148", "medgen:1814442"], "information_content": 100.0}
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{"id": "MONDO:0018967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia", "equivalent_identifiers": ["MONDO:0018967", "orphanet:632"], "information_content": 100.0}
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{"id": "MONDO:0958106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital insensitivity to pain syndrome, Marsili type", "equivalent_identifiers": ["MONDO:0958106", "orphanet:653728"], "information_content": 100.0}
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{"id": "MONDO:0018611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset lamellar cataract", "equivalent_identifiers": ["MONDO:0018611", "orphanet:441452", "UMLS:C5681191", "medgen:1843303"], "information_content": 100.0}
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{"id": "MONDO:0017701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form", "equivalent_identifiers": ["MONDO:0017701", "orphanet:308712", "UMLS:C1856306", "MESH:C565544", "medgen:343525"], "information_content": 100.0}
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{"id": "NCBIGene:5495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPM1B", "equivalent_identifiers": ["NCBIGene:5495", "ENSEMBL:ENSG00000138032", "HGNC:9276", "OMIM:603770", "UMLS:C1418815", "UniProtKB:O75688", "PR:O75688", "UMLS:C4307826", "MESH:C000607457"], "information_content": 87.2}
{"id": "MONDO:0018777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome", "equivalent_identifiers": ["MONDO:0018777", "orphanet:476119", "UMLS:C5568802", "SNOMEDCT:1187115008", "medgen:1800225"], "information_content": 100.0}
{"id": "MONDO:0019674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial polydactyly type B", "equivalent_identifiers": ["MONDO:0019674", "orphanet:93335", "UMLS:C1868120", "SNOMEDCT:715707008", "medgen:357425", "icd11.foundation:366939273"], "information_content": 92.8}
{"id": "MONDO:0035238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vegetative pyoderma gangrenosum", "equivalent_identifiers": ["MONDO:0035238", "orphanet:538872", "UMLS:C5680158", "medgen:1842944"], "information_content": 100.0}
{"id": "MONDO:0017116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital communicating hydrocephalus", "equivalent_identifiers": ["MONDO:0017116", "orphanet:269505", "UMLS:C5679774", "medgen:1842324"], "information_content": 100.0}
{"id": "MONDO:0018437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute myeloid leukemia with NPM1 somatic mutations", "equivalent_identifiers": ["MONDO:0018437", "orphanet:402026", "UMLS:C4706386", "SNOMEDCT:763309005", "medgen:1633725"], "information_content": 100.0}
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{"id": "MONDO:0016573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute fatty liver of pregnancy", "equivalent_identifiers": ["MONDO:0016573", "orphanet:243367", "UMLS:C1455728", "MESH:C537957", "MEDDRA:10000746", "SNOMEDCT:716379000", "medgen:264102", "icd11.foundation:1226221530"], "information_content": 100.0}
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{"id": "MONDO:0018436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)", "equivalent_identifiers": ["MONDO:0018436", "orphanet:402023", "UMLS:C4706584", "SNOMEDCT:763796007", "medgen:1638466"], "information_content": 100.0}
{"id": "NCBIGene:64783", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM15", "equivalent_identifiers": ["NCBIGene:64783", "ENSEMBL:ENSG00000162775", "HGNC:14959", "OMIM:606077", "UMLS:C1423088", "UniProtKB:Q96T37", "PR:Q96T37", "UMLS:C0968086", "MESH:C431574"], "information_content": 88.2}
{"id": "NCBIGene:7258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin"], "name": "TSPY1", "equivalent_identifiers": ["NCBIGene:7258", "ENSEMBL:ENSG00000258992", "HGNC:12381", "OMIM:480100", "UMLS:C1421207"], "information_content": 90.9}
{"id": "NCBIGene:57135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DAZ4", "equivalent_identifiers": ["NCBIGene:57135", "ENSEMBL:ENSG00000205916", "HGNC:15966", "OMIM:400048", "UMLS:C1423870", "UniProtKB:A0A804HKV4", "ENSEMBL:ENSP00000508087", "ENSEMBL:ENSP00000508087.1", "UniProtKB:Q86SG3", "PR:Q86SG3"], "information_content": 90.9}
{"id": "MONDO:0034143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset calcifying leukoencephalopathy-skeletal dysplasia", "equivalent_identifiers": ["MONDO:0034143", "orphanet:556985", "UMLS:C5681333", "SNOMEDCT:1222661007", "medgen:1805057"], "information_content": 100.0}
{"id": "MONDO:0018759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome", "equivalent_identifiers": ["MONDO:0018759", "orphanet:466921", "UMLS:C5568863", "SNOMEDCT:1187251009", "medgen:1800286"], "information_content": 100.0}
{"id": "MONDO:0018662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive brachyolmia", "equivalent_identifiers": ["MONDO:0018662", "orphanet:448242", "UMLS:C4760908", "MEDDRA:10081837", "SNOMEDCT:783789002", "medgen:1675807", "icd11.foundation:625421044"], "information_content": 92.8}
{"id": "MONDO:0016315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 2, severe form", "equivalent_identifiers": ["MONDO:0016315", "orphanet:217085", "UMLS:C0342841", "SNOMEDCT:73146005", "medgen:575246"], "information_content": 100.0}
{"id": "MONDO:0958118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive combined immunodeficiency due to IL6R deficiency", "equivalent_identifiers": ["MONDO:0958118", "orphanet:656326", "UMLS:C5925112", "SNOMEDCT:1351327002", "medgen:1863760"], "information_content": 100.0}
{"id": "MONDO:0018440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive distal renal tubular acidosis", "equivalent_identifiers": ["MONDO:0018440", "orphanet:402041", "UMLS:C1864498", "MESH:C537758", "medgen:351142"], "information_content": 92.8}
{"id": "orphanet:247709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "247709", "equivalent_identifiers": ["orphanet:247709"]}
{"id": "MONDO:0015520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late infantile CACH syndrome", "equivalent_identifiers": ["MONDO:0015520", "orphanet:157716", "UMLS:C5680648", "medgen:1826172", "icd11.foundation:1635638032"], "information_content": 100.0}
{"id": "MONDO:0015521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile or adult CACH syndrome", "equivalent_identifiers": ["MONDO:0015521", "orphanet:157719", "UMLS:C5680649", "medgen:1826173", "icd11.foundation:1400114953"], "information_content": 100.0}
{"id": "MONDO:0015519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital or early infantile CACH syndrome", "equivalent_identifiers": ["MONDO:0015519", "orphanet:157713", "UMLS:C5680650", "medgen:1842419", "icd11.foundation:2136523495"], "information_content": 100.0}
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{"id": "NCBIGene:2353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOS", "equivalent_identifiers": ["NCBIGene:2353", "ENSEMBL:ENSG00000170345", "HGNC:3796", "OMIM:164810", "UMLS:C0087140", "UniProtKB:P01100", "PR:P01100", "UMLS:C0085301", "UMLS:C5196775", "MESH:C000630046", "MESH:D016760", "UniProtKB:Q6FG41"], "information_content": 87.2}
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{"id": "NCBIGene:7913", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEK", "equivalent_identifiers": ["NCBIGene:7913", "ENSEMBL:ENSG00000124795", "HGNC:2768", "OMIM:125264", "UMLS:C1333214", "UniProtKB:H0Y8X0", "ENSEMBL:ENSP00000422380", "ENSEMBL:ENSP00000422380.2", "UniProtKB:P35659", "PR:P35659", "UMLS:C0249747", "MESH:C084738"], "information_content": 87.2}
{"id": "NCBIGene:51232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRIM1", "equivalent_identifiers": ["NCBIGene:51232", "ENSEMBL:ENSG00000150938", "HGNC:2359", "OMIM:606189", "UMLS:C1413711", "UniProtKB:Q9NZV1", "PR:Q9NZV1", "ENSEMBL:ENSP00000280527", "ENSEMBL:ENSP00000280527.2", "UMLS:C1142672", "MESH:C486175"], "information_content": 88.2}
{"id": "MONDO:0100216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DICER1 syndrome", "equivalent_identifiers": ["MONDO:0100216", "DOID:0081063", "orphanet:284343", "UMLS:C3839822", "NCIT:C123317", "SNOMEDCT:702411003", "medgen:825667"], "information_content": 85.5}
{"id": "MONDO:0018472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated trichomegaly", "equivalent_identifiers": ["MONDO:0018472", "DOID:0111566", "orphanet:411788", "UMLS:C4706941", "SNOMEDCT:764523004", "medgen:1639703", "icd11.foundation:1611595637"], "information_content": 100.0}
{"id": "MONDO:0018642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NIK deficiency", "equivalent_identifiers": ["MONDO:0018642", "orphanet:447731", "UMLS:C5680065", "SNOMEDCT:1197478005", "medgen:1808868"], "information_content": 100.0}
{"id": "NCBIGene:2357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FPR1", "equivalent_identifiers": ["NCBIGene:2357", "ENSEMBL:ENSG00000171051", "HGNC:3826", "OMIM:136537", "UMLS:C1333574", "UniProtKB:P21462", "PR:P21462", "ENSEMBL:ENSP00000302707", "ENSEMBL:ENSP00000302707.3", "ENSEMBL:ENSP00000470750", "ENSEMBL:ENSP00000470750.2", "ENSEMBL:ENSP00000471493", "ENSEMBL:ENSP00000471493.1", "ENSEMBL:ENSP00000472936", "ENSEMBL:ENSP00000472936.2", "UMLS:C1256801", "MESH:C469986"], "information_content": 95.4}
{"id": "MONDO:0018643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "susceptibility to localized juvenile periodontitis", "equivalent_identifiers": ["MONDO:0018643", "orphanet:447740", "UMLS:C5681199", "SNOMEDCT:1197482007", "medgen:1812489"], "information_content": 100.0}
{"id": "MONDO:0016470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos/osteogenesis imperfecta syndrome", "equivalent_identifiers": ["MONDO:0016470", "OMIM.PS:619115", "orphanet:230857", "UMLS:C1852924", "UMLS:C4518787", "MESH:C565178", "SNOMEDCT:733457006", "medgen:1386497"], "information_content": 92.8}
{"id": "MONDO:0018827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial chilblain lupus", "equivalent_identifiers": ["MONDO:0018827", "OMIM.PS:610448", "orphanet:481662", "UMLS:C5688224", "MEDDRA:10090201", "SNOMEDCT:1220590003", "medgen:1807766"], "information_content": 92.8}
{"id": "MONDO:0018766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic enteropathy associated with SLCO2A1 gene", "equivalent_identifiers": ["MONDO:0018766", "orphanet:468641", "UMLS:C5568838", "SNOMEDCT:1187194006", "medgen:1800261"], "information_content": 100.0}
{"id": "orphanet:71290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "71290", "equivalent_identifiers": ["orphanet:71290"]}
{"id": "MONDO:0016559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma secondary to spherophakia/ectopia lentis and megalocornea", "equivalent_identifiers": ["MONDO:0016559", "orphanet:238763", "UMLS:C5190883", "SNOMEDCT:783246000", "medgen:1674483"], "information_content": 100.0}
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{"id": "MONDO:0017902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "equivalent_identifiers": ["MONDO:0017902", "orphanet:319574", "UMLS:C4511098", "SNOMEDCT:725432008", "medgen:1387677"], "information_content": 100.0}
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{"id": "MONDO:0015170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital sodium diarrhea", "equivalent_identifiers": ["MONDO:0015170", "orphanet:103908", "UMLS:C0267663", "SNOMEDCT:18805001", "medgen:78632"], "information_content": 90.9}
{"id": "MONDO:0017900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency", "equivalent_identifiers": ["MONDO:0017900", "orphanet:319547", "UMLS:C4303071", "SNOMEDCT:721876004", "medgen:928740"], "information_content": 100.0}
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{"id": "NCBIGene:84181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHD6", "equivalent_identifiers": ["NCBIGene:84181", "ENSEMBL:ENSG00000124177", "HGNC:19057", "OMIM:616114", "UMLS:C1425982", "UniProtKB:Q8TD26", "PR:Q8TD26", "UMLS:C3713700", "MESH:C583979"], "information_content": 89.4}
{"id": "MONDO:0044675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LRP5-related primary osteoporosis", "equivalent_identifiers": ["MONDO:0044675", "orphanet:498481", "UMLS:C5567241", "SNOMEDCT:1169364005", "medgen:1798664"], "information_content": 100.0}
{"id": "orphanet:247676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "247676", "equivalent_identifiers": ["orphanet:247676"]}
{"id": "orphanet:498494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "498494", "equivalent_identifiers": ["orphanet:498494"]}
{"id": "MONDO:0971068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phelan-McDermid syndrome due to 22q13.3 deletion", "equivalent_identifiers": ["MONDO:0971068", "orphanet:662169"], "information_content": 100.0}
{"id": "MONDO:0018206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood-onset autosomal recessive myopathy with external ophthalmoplegia", "equivalent_identifiers": ["MONDO:0018206", "orphanet:363677", "UMLS:C5192594", "SNOMEDCT:787172004", "medgen:1673410"], "information_content": 100.0}
{"id": "MONDO:0035445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chronic MCL", "equivalent_identifiers": ["MONDO:0035445", "orphanet:566396", "UMLS:C5680130", "medgen:1843226"], "information_content": 100.0}
{"id": "orphanet:247667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "247667", "equivalent_identifiers": ["orphanet:247667"]}
{"id": "MONDO:0035444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acute MCL", "equivalent_identifiers": ["MONDO:0035444", "orphanet:566393", "UMLS:C5680128", "medgen:1843106"], "information_content": 100.0}
{"id": "NCBIGene:1813", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRD2", "equivalent_identifiers": ["NCBIGene:1813", "ENSEMBL:ENSG00000149295", "HGNC:3023", "OMIM:126450", "UMLS:C1333253", "UniProtKB:P14416", "PR:P14416", "UMLS:C3659270", "MESH:C581293"], "information_content": 87.2}
{"id": "orphanet:247651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "247651", "equivalent_identifiers": ["orphanet:247651"]}
{"id": "MONDO:0014013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal riboflavin deficiency", "equivalent_identifiers": ["MONDO:0014013", "orphanet:411712", "UMLS:C4750953", "SNOMEDCT:773549000", "medgen:1657395"], "information_content": 100.0}
{"id": "MONDO:0971069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phelan-McDermid syndrome due to SHANK3 mutation", "equivalent_identifiers": ["MONDO:0971069", "orphanet:662172", "UMLS:C5925128", "medgen:1864314"], "information_content": 100.0}
{"id": "MONDO:0850095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked severe syndromic thoracic aortic aneurysm and dissection", "equivalent_identifiers": ["MONDO:0850095", "orphanet:622925"], "information_content": 100.0}
{"id": "MONDO:0018487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive severe congenital neutropenia due to CXCR2 deficiency", "equivalent_identifiers": ["MONDO:0018487", "orphanet:420699", "UMLS:C5190862", "SNOMEDCT:783200000", "medgen:1682018"], "information_content": 100.0}
{"id": "MONDO:0018765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptogenic multifocal ulcerous stenosing enteritis", "equivalent_identifiers": ["MONDO:0018765", "orphanet:468635", "UMLS:C4302263", "SNOMEDCT:722849002", "medgen:927932", "icd11.foundation:1401898155"], "information_content": 100.0}
{"id": "MONDO:0004958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oral cavity squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0004958", "DOID:0050866", "orphanet:502363", "EFO:0000199", "UMLS:C0585362", "MEDDRA:10041857", "NCIT:C4833", "SNOMEDCT:307502000", "medgen:108436"], "information_content": 73.6}
{"id": "MONDO:0021427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squamous cell carcinoma of lip", "equivalent_identifiers": ["MONDO:0021427", "orphanet:502366", "UMLS:C0280302", "MEDDRA:10064055", "NCIT:C4042", "SNOMEDCT:255071008", "medgen:79099", "icd11.foundation:1635251327"], "information_content": 95.4}
{"id": "MONDO:0850096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SBDS-related severe neonatal spondylometaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0850096", "orphanet:622934", "UMLS:C5680412", "medgen:1843152"], "information_content": 100.0}
{"id": "orphanet:247638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "247638", "equivalent_identifiers": ["orphanet:247638"]}
{"id": "MONDO:0975904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "10p15 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0975904", "orphanet:687424"], "information_content": 100.0}
{"id": "NCBIGene:4863", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPAT", "equivalent_identifiers": ["NCBIGene:4863", "ENSEMBL:ENSG00000149308", "HGNC:7896", "OMIM:601448", "UMLS:C1417775", "UniProtKB:Q14207", "PR:Q14207", "ENSEMBL:ENSP00000278612", "ENSEMBL:ENSP00000278612.8", "ENSEMBL:ENSP00000520908", "ENSEMBL:ENSP00000520908.1", "UMLS:C0530328", "MESH:C101693"], "information_content": 89.4}
{"id": "MONDO:0018159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome with DGKE deficiency", "equivalent_identifiers": ["MONDO:0018159", "orphanet:357008", "UMLS:C5679921", "SNOMEDCT:1269225005", "medgen:1826167"], "information_content": 100.0}
{"id": "MONDO:0018252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal palmoplantar keratoderma with joint keratoses", "equivalent_identifiers": ["MONDO:0018252", "orphanet:370002", "UMLS:C4755302", "SNOMEDCT:778051008", "medgen:1667811"], "information_content": 100.0}
{"id": "MONDO:0018161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-hereditary retinoblastoma", "equivalent_identifiers": ["MONDO:0018161", "orphanet:357034", "EFO:0005717", "UMLS:C5680987", "UMLS:CN204600", "medgen:1842255"], "information_content": 100.0}
{"id": "orphanet:357027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "357027", "equivalent_identifiers": ["orphanet:357027"]}
{"id": "NCBIGene:89780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT3A", "equivalent_identifiers": ["NCBIGene:89780", "ENSEMBL:ENSG00000154342", "HGNC:15983", "OMIM:606359", "UMLS:C1423884", "UniProtKB:P56704", "PR:P56704", "UMLS:C1570067", "MESH:C555510"], "information_content": 87.2}
{"id": "MONDO:0008429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Singleton-Merten dysplasia", "equivalent_identifiers": ["MONDO:0008429", "OMIM.PS:182250", "orphanet:85191", "UMLS:C0432254", "MESH:C537343", "SNOMEDCT:254114000", "medgen:98481", "icd11.foundation:1084593684"], "information_content": 92.8}
{"id": "NCBIGene:25776", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBY1", "equivalent_identifiers": ["NCBIGene:25776", "ENSEMBL:ENSG00000100211", "HGNC:1307", "OMIM:607757", "UMLS:C1538626", "UniProtKB:Q9Y3M2", "PR:Q9Y3M2", "ENSEMBL:ENSP00000216029", "ENSEMBL:ENSP00000216029.3", "ENSEMBL:ENSP00000380026", "ENSEMBL:ENSP00000380026.2", "ENSEMBL:ENSP00000412260", "ENSEMBL:ENSP00000412260.2", "ENSEMBL:ENSP00000413934", "ENSEMBL:ENSP00000413934.2", "UMLS:C1176249", "MESH:C473750"], "information_content": 92.8}
{"id": "MONDO:0850059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary persistence of fetal hemoglobin-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0850059", "orphanet:619233"], "information_content": 100.0}
{"id": "MONDO:0004187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular fasciitis", "equivalent_identifiers": ["MONDO:0004187", "DOID:7327", "orphanet:477742", "UMLS:C0410005", "MEDDRA:10065988", "NCIT:C3827", "SNOMEDCT:400138001", "SNOMEDCT:703616008", "medgen:96076", "icd11.foundation:789101380", "ICD10:M72.4"], "information_content": 84.2}
{"id": "NCBIGene:9098", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP6", "equivalent_identifiers": ["NCBIGene:9098", "ENSEMBL:ENSG00000129204", "HGNC:12629", "OMIM:604334", "UMLS:C1421407", "UniProtKB:P35125", "PR:P35125", "UMLS:C1175888", "MESH:C473330"], "information_content": 88.2}
{"id": "MONDO:0018780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized hypercontractile muscle stiffness syndrome", "equivalent_identifiers": ["MONDO:0018780", "orphanet:476406", "UMLS:C5567789", "SNOMEDCT:1174000008", "medgen:1799212"], "information_content": 100.0}
{"id": "MONDO:0018784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pediatric multiple sclerosis", "equivalent_identifiers": ["MONDO:0018784", "orphanet:477738", "UMLS:C5568571", "SNOMEDCT:1186728004", "medgen:1799994"], "information_content": 100.0}
{"id": "MONDO:0017826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "null pituitary adenoma", "equivalent_identifiers": ["MONDO:0017826", "orphanet:314790", "UMLS:C1709286", "UMLS:C5680967", "NCIT:C45924", "medgen:1813085"], "information_content": 100.0}
{"id": "MONDO:0034216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha", "equivalent_identifiers": ["MONDO:0034216", "orphanet:566231", "UMLS:C5680127", "SNOMEDCT:1260240000", "medgen:1830097"], "information_content": 100.0}
{"id": "MONDO:0019745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystinuria type A", "equivalent_identifiers": ["MONDO:0019745", "orphanet:93612", "UMLS:C1857388", "MESH:C565652", "medgen:347441", "icd11.foundation:1172657361"], "information_content": 100.0}
{"id": "MONDO:0019746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystinuria type B", "equivalent_identifiers": ["MONDO:0019746", "orphanet:93613", "UMLS:C1857389", "medgen:347442", "icd11.foundation:491796307"], "information_content": 100.0}
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{"id": "MONDO:0100289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Goldmann-Favre syndrome", "equivalent_identifiers": ["MONDO:0100289", "orphanet:53540", "UMLS:C0339541", "SNOMEDCT:232065000", "medgen:87387", "icd11.foundation:890235941"], "information_content": 100.0}
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{"id": "MONDO:0016705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiocentric glioma", "equivalent_identifiers": ["MONDO:0016705", "DOID:0081261", "orphanet:251671", "UMLS:C2363903", "MEDDRA:10068603", "MEDDRA:10068604", "MEDDRA:10073129", "NCIT:C92552", "SNOMEDCT:450900009", "medgen:453267"], "information_content": 90.9}
{"id": "NCBIGene:51066", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSUH2", "equivalent_identifiers": ["NCBIGene:51066", "ENSEMBL:ENSG00000125046", "HGNC:24809", "OMIM:617479", "UMLS:C1824128", "UniProtKB:Q9Y2M2", "PR:Q9Y2M2", "UMLS:C2934776", "MESH:C550238"], "information_content": 89.4}
{"id": "NCBIGene:9525", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS4B", "equivalent_identifiers": ["NCBIGene:9525", "ENSEMBL:ENSG00000119541", "HGNC:10895", "OMIM:609983", "UMLS:C1420080", "UniProtKB:O75351", "PR:O75351", "ENSEMBL:ENSP00000238497", "ENSEMBL:ENSP00000238497.4", "UMLS:C1452798", "MESH:C490304"], "information_content": 89.4}
{"id": "MONDO:0016703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anaplastic oligoastrocytoma", "equivalent_identifiers": ["MONDO:0016703", "orphanet:251663", "EFO:0002500", "UMLS:C0431108", "NCIT:C129324", "NCIT:C6959", "SNOMEDCT:253072003", "medgen:96556"], "information_content": 89.4}
{"id": "MONDO:0016702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligoastrocytoma", "equivalent_identifiers": ["MONDO:0016702", "DOID:7912", "orphanet:251656", "EFO:0000630", "UMLS:C0280793", "UMLS:C0547065", "MEDDRA:10027744", "MEDDRA:10027769", "MEDDRA:10073131", "NCIT:C129323", "NCIT:C4050", "SNOMEDCT:253071005", "SNOMEDCT:716647001", "medgen:154285"], "information_content": 89.4}
{"id": "MONDO:0017906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis cutis dyschromia", "equivalent_identifiers": ["MONDO:0017906", "DOID:0080932", "orphanet:319635", "UMLS:C4554601", "SNOMEDCT:764849002", "medgen:1641859"], "information_content": 100.0}
{"id": "MONDO:0975882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0975882", "orphanet:684232"], "information_content": 100.0}
{"id": "MONDO:0018507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-complex motor and sensory axonal neuropathy syndrome", "equivalent_identifiers": ["MONDO:0018507", "orphanet:423894", "UMLS:C4706585", "SNOMEDCT:763798008", "medgen:1637079"], "information_content": 100.0}
{"id": "NCBIGene:29128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UHRF1", "equivalent_identifiers": ["NCBIGene:29128", "ENSEMBL:ENSG00000276043", "HGNC:12556", "OMIM:607990", "UMLS:C1421348", "UniProtKB:A0A087WVR3", "ENSEMBL:ENSP00000479617", "ENSEMBL:ENSP00000479617.1", "UniProtKB:Q96T88", "PR:Q96T88", "UMLS:C1438723", "MESH:C406364"], "information_content": 87.2}
{"id": "MONDO:0035475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EPHB4-related lymphatic-related hydrops fetalis", "equivalent_identifiers": ["MONDO:0035475", "orphanet:568065", "UMLS:C5680140", "SNOMEDCT:1222666002", "medgen:1802765"], "information_content": 100.0}
{"id": "MONDO:0035824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "KLHL7-related cold-induced sweating-like syndrome", "equivalent_identifiers": ["MONDO:0035824", "orphanet:603694", "UMLS:C5680211", "SNOMEDCT:1304117006", "medgen:1842368"], "information_content": 100.0}
{"id": "MONDO:0016696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anaplastic oligodendroglioma", "equivalent_identifiers": ["MONDO:0016696", "DOID:7154", "orphanet:251630", "EFO:0002501", "UMLS:C0334590", "MEDDRA:10026659", "MEDDRA:10030288", "MEDDRA:10073128", "NCIT:C129322", "NCIT:C4326", "SNOMEDCT:3102004", "medgen:90812"], "information_content": 82.6}
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{"id": "NCBIGene:2321", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FLT1", "equivalent_identifiers": ["NCBIGene:2321", "ENSEMBL:ENSG00000102755", "HGNC:3763", "OMIM:165070", "UMLS:C0812298", "UniProtKB:L7RSL3", "UniProtKB:P17948", "PR:P17948", "UMLS:C1568520", "MESH:C501162"], "information_content": 81.7}
{"id": "MONDO:0016692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pilomyxoid astrocytoma", "equivalent_identifiers": ["MONDO:0016692", "DOID:4845", "orphanet:251615", "UMLS:C1519086", "NCIT:C40315", "SNOMEDCT:1157070004", "SNOMEDCT:388600004", "medgen:276757"], "information_content": 90.9}
{"id": "NCBIGene:9901", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRGAP3", "equivalent_identifiers": ["NCBIGene:9901", "ENSEMBL:ENSG00000196220", "HGNC:19744", "OMIM:606525", "UMLS:C1539848", "UniProtKB:O43295", "PR:O43295", "UMLS:C1144440", "MESH:C465659"], "information_content": 89.4}
{"id": "MONDO:0975754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudomyogenic hemangioendothelioma", "equivalent_identifiers": ["MONDO:0975754", "orphanet:673556", "UMLS:C3840252", "NCIT:C121668", "SNOMEDCT:703658006", "medgen:826097"], "information_content": 90.9}
{"id": "MONDO:0044705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paranasal sinus squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0044705", "orphanet:500464", "UMLS:C0280334", "MEDDRA:10041864", "NCIT:C8193", "medgen:79105"], "information_content": 84.2}
{"id": "MONDO:0958085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digenic hemochromatosis", "equivalent_identifiers": ["MONDO:0958085", "orphanet:648581", "UMLS:C5816744", "SNOMEDCT:1299153008", "medgen:1853200"], "information_content": 100.0}
{"id": "MONDO:0016689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gemistocytic astrocytoma", "equivalent_identifiers": ["MONDO:0016689", "DOID:7005", "orphanet:251604", "UMLS:C0334581", "NCIT:C4321", "SNOMEDCT:73982001", "medgen:87269"], "information_content": 90.9}
{"id": "MONDO:0016688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrillary astrocytoma", "equivalent_identifiers": ["MONDO:0016688", "DOID:6726", "orphanet:251601", "UMLS:C0334582", "MEDDRA:10065889", "NCIT:C4322", "SNOMEDCT:71314006", "medgen:87270"], "information_content": 92.8}
{"id": "MONDO:0020478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber plus disease", "equivalent_identifiers": ["MONDO:0020478", "DOID:0111754", "orphanet:99718", "UMLS:C4304725", "SNOMEDCT:719430008", "medgen:930394"], "information_content": 92.8}
{"id": "MONDO:0019071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pure hair and nail ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0019071", "DOID:0111655", "orphanet:69084", "UMLS:C1865951"], "information_content": 89.4}
{"id": "MONDO:0010295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome", "equivalent_identifiers": ["MONDO:0010295", "orphanet:69088", "UMLS:C1845919", "UMLS:C4303737", "MESH:C564538", "SNOMEDCT:720986005", "medgen:929406"], "information_content": 100.0}
{"id": "MONDO:0016601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset citrullinemia type I", "equivalent_identifiers": ["MONDO:0016601", "orphanet:247573"], "information_content": 100.0}
{"id": "MONDO:0850115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset obesity-hyperphagia-severe developmental delay syndrome", "equivalent_identifiers": ["MONDO:0850115", "orphanet:99704"], "information_content": 100.0}
{"id": "orphanet:477661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "477661", "equivalent_identifiers": ["orphanet:477661"]}
{"id": "MONDO:0015609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "advanced sleep phase syndrome", "equivalent_identifiers": ["MONDO:0015609", "DOID:0050628", "OMIM.PS:604348", "orphanet:164736", "UMLS:C1858496", "MESH:C565789", "SNOMEDCT:715829003", "medgen:348956"], "information_content": 89.4}
{"id": "orphanet:238613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "238613", "equivalent_identifiers": ["orphanet:238613"]}
{"id": "MONDO:0018603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SFTPC- related interstitial lung disease", "equivalent_identifiers": ["MONDO:0018603", "orphanet:440392"], "information_content": 100.0}
{"id": "MONDO:0017544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "zygodactyly type 3", "equivalent_identifiers": ["MONDO:0017544", "orphanet:295191", "UMLS:C5679983", "medgen:1843229", "icd11.foundation:1831534806"], "information_content": 100.0}
{"id": "MONDO:0968990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "genetic central precocious puberty in male", "equivalent_identifiers": ["MONDO:0968990", "orphanet:650097", "UMLS:C5816761", "medgen:1853128"], "information_content": 100.0}
{"id": "MONDO:0019258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mild PKU", "equivalent_identifiers": ["MONDO:0019258", "orphanet:79253", "UMLS:C5680203", "medgen:1842357"], "information_content": 100.0}
{"id": "MONDO:0035660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GNAO1-related developmental delay-seizures-movement disorder spectrum", "equivalent_identifiers": ["MONDO:0035660", "orphanet:592564", "UMLS:C5680303", "SNOMEDCT:1281842000", "medgen:1830103"], "information_content": 100.0}
{"id": "MONDO:0035930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency", "equivalent_identifiers": ["MONDO:0035930", "orphanet:583612", "UMLS:C5680338", "medgen:1843313"], "information_content": 100.0}
{"id": "MONDO:0016600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute neonatal citrullinemia type I", "equivalent_identifiers": ["MONDO:0016600", "orphanet:247546", "UMLS:C5679618", "medgen:1843387"], "information_content": 100.0}
{"id": "MONDO:0958354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "genetic central precocious puberty in female", "equivalent_identifiers": ["MONDO:0958354", "orphanet:650077", "UMLS:C5816765", "medgen:1853156"], "information_content": 100.0}
{"id": "MONDO:0975757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anastomosing haemangioma", "equivalent_identifiers": ["MONDO:0975757", "orphanet:675359", "UMLS:C4329301", "NCIT:C131760", "SNOMEDCT:1293127005", "SNOMEDCT:1293128000", "medgen:1385828"], "information_content": 100.0}
{"id": "orphanet:247522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "247522", "equivalent_identifiers": ["orphanet:247522"]}
{"id": "MONDO:0018567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation", "equivalent_identifiers": ["MONDO:0018567", "orphanet:435819", "UMLS:C5569028", "SNOMEDCT:1187566006", "medgen:1800451"], "information_content": 100.0}
{"id": "MONDO:0017905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked Mendelian susceptibility to mycobacterial diseases", "equivalent_identifiers": ["MONDO:0017905", "orphanet:319605", "UMLS:C4304413", "SNOMEDCT:719814009", "medgen:930082"], "information_content": 95.4}
{"id": "NCBIGene:56999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS9", "equivalent_identifiers": ["NCBIGene:56999", "ENSEMBL:ENSG00000163638", "HGNC:13202", "OMIM:605421", "UMLS:C1332020", "UniProtKB:Q9P2N4", "PR:Q9P2N4", "UMLS:C1257533", "MESH:C412869"], "information_content": 84.8}
{"id": "orphanet:247511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "247511", "equivalent_identifiers": ["orphanet:247511"]}
{"id": "MONDO:0019742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset nephronophthisis", "equivalent_identifiers": ["MONDO:0019742", "orphanet:93589", "UMLS:C5681620", "medgen:1842314"], "information_content": 100.0}
{"id": "MONDO:0035661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome", "equivalent_identifiers": ["MONDO:0035661", "orphanet:592570", "UMLS:C5681633", "SNOMEDCT:1208998007", "medgen:1809140"], "information_content": 100.0}
{"id": "MONDO:0018839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired schizencephaly", "equivalent_identifiers": ["MONDO:0018839", "orphanet:485275", "UMLS:C5681246", "medgen:1825983"], "information_content": 100.0}
{"id": "MONDO:0018254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Isidor type", "equivalent_identifiers": ["MONDO:0018254", "orphanet:370015", "UMLS:C5190629", "SNOMEDCT:782821004", "medgen:1676518"], "information_content": 100.0}
{"id": "NCBIGene:2272", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FHIT", "equivalent_identifiers": ["NCBIGene:2272", "ENSEMBL:ENSG00000189283", "HGNC:3701", "OMIM:601153", "UMLS:C0919457", "UniProtKB:P49789", "PR:P49789", "ENSEMBL:ENSP00000417480", "ENSEMBL:ENSP00000417480.1", "ENSEMBL:ENSP00000417557", "ENSEMBL:ENSP00000417557.1", "ENSEMBL:ENSP00000418582", "ENSEMBL:ENSP00000418582.1", "UMLS:C1173495"], "information_content": 95.4}
{"id": "MONDO:0018492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary clear cell renal cell carcinoma", "equivalent_identifiers": ["MONDO:0018492", "DOID:7192", "orphanet:422526", "UMLS:C1333985", "NCIT:C36260", "SNOMEDCT:764961009", "medgen:234343"], "information_content": 92.8}
{"id": "NCBIGene:84925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC49A4", "equivalent_identifiers": ["NCBIGene:84925", "ENSEMBL:ENSG00000138463", "HGNC:16628", "OMIM:602773", "UMLS:C1424449", "UniProtKB:Q96SL1", "PR:Q96SL1", "UMLS:C5772746", "MESH:C000726492"], "information_content": 90.9}
{"id": "NCBIGene:79663", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPBAP1", "equivalent_identifiers": ["NCBIGene:79663", "ENSEMBL:ENSG00000169087", "HGNC:16389", "OMIM:608263", "UMLS:C1424240", "UniProtKB:A8K045", "UMLS:C1310494", "MESH:C455829", "UniProtKB:Q96EW2", "PR:Q96EW2", "UMLS:C3273799"], "information_content": 89.4}
{"id": "MONDO:0019733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AFib amyloidosis", "equivalent_identifiers": ["MONDO:0019733", "orphanet:93562", "UMLS:C5680267", "medgen:1826152", "icd11.foundation:141110588"], "information_content": 100.0}
{"id": "MONDO:0019731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AApoAI amyloidosis", "equivalent_identifiers": ["MONDO:0019731", "orphanet:93560", "UMLS:C5680269", "medgen:1842920"], "information_content": 100.0}
{"id": "MONDO:0019732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALys amyloidosis", "equivalent_identifiers": ["MONDO:0019732", "orphanet:93561", "UMLS:C5680270", "medgen:1842307", "icd11.foundation:831687561"], "information_content": 100.0}
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{"id": "NCBIGene:7049", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGFBR3", "equivalent_identifiers": ["NCBIGene:7049", "ENSEMBL:ENSG00000069702", "HGNC:11774", "OMIM:600742", "UMLS:C1336625", "UniProtKB:A0A0A8KWK3", "UniProtKB:Q03167", "PR:Q03167", "UMLS:C1700222"], "information_content": 89.4}
{"id": "NCBIGene:83854", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANGPTL6", "equivalent_identifiers": ["NCBIGene:83854", "ENSEMBL:ENSG00000130812", "HGNC:23140", "OMIM:609336", "UMLS:C1427941", "UniProtKB:Q8NI99", "PR:Q8NI99", "ENSEMBL:ENSP00000253109", "ENSEMBL:ENSP00000253109.3", "ENSEMBL:ENSP00000467930", "ENSEMBL:ENSP00000467930.1", "UMLS:C1311865", "MESH:C477601"], "information_content": 90.9}
{"id": "HP:0034199", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late first trimester onset", "equivalent_identifiers": ["HP:0034199", "UMLS:C5676787"], "information_content": 100.0}
{"id": "HP:0000007", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Autosomal recessive inheritance", "equivalent_identifiers": ["HP:0000007", "UMLS:C4020899"], "information_content": 55.0}
{"id": "HP:0003676", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Progressive", "equivalent_identifiers": ["HP:0003676", "UMLS:C1864985"], "information_content": 89.4}
{"id": "HP:0011461", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal onset", "equivalent_identifiers": ["HP:0011461", "UMLS:C4023347"], "information_content": 89.4}
{"id": "HP:0003811", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal death", "equivalent_identifiers": ["HP:0003811", "UMLS:C0410916", "MEDDRA:10011912", "SNOMEDCT:276506001"], "information_content": 100.0}
{"id": "HP:0011462", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Young adult onset", "equivalent_identifiers": ["HP:0011462", "UMLS:C3554568"], "information_content": 90.9}
{"id": "HP:0003593", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infantile onset", "equivalent_identifiers": ["HP:0003593", "UMLS:C1848924"], "information_content": 71.0}
{"id": "HP:0003577", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital onset", "equivalent_identifiers": ["HP:0003577", "UMLS:C1836142"], "information_content": 79.9}
{"id": "HP:0001522", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Infant Death", "equivalent_identifiers": ["HP:0001522", "UMLS:C0549159", "UMLS:C1844947", "SNOMEDCT:240297000", "MESH:D066088"], "information_content": 100.0}
{"id": "HP:0003623", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neonatal onset", "equivalent_identifiers": ["HP:0003623", "UMLS:C1855106"], "information_content": 76.4}
{"id": "HP:0011463", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Childhood onset", "equivalent_identifiers": ["HP:0011463", "UMLS:C1837352"], "information_content": 63.2}
{"id": "HP:0003829", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Typified by incomplete penetrance", "equivalent_identifiers": ["HP:0003829", "UMLS:C1836598"], "information_content": 90.9}
{"id": "HP:0025709", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Intermediate young adult onset", "equivalent_identifiers": ["HP:0025709", "UMLS:C5676636"], "information_content": 100.0}
{"id": "HP:0003581", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adult onset", "equivalent_identifiers": ["HP:0003581", "UMLS:C1853562"], "information_content": 70.8}
{"id": "HP:0001442", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Typified by somatic mosaicism", "equivalent_identifiers": ["HP:0001442", "UMLS:C1866227"], "information_content": 100.0}
{"id": "HP:0003677", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Slowly progressive", "equivalent_identifiers": ["HP:0003677", "UMLS:C1854494"], "information_content": 95.4}
{"id": "HP:0001423", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dominant inheritance", "equivalent_identifiers": ["HP:0001423", "UMLS:C1847879"], "information_content": 92.8}
{"id": "MONDO:0005406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gestational diabetes", "equivalent_identifiers": ["MONDO:0005406", "DOID:11714", "EFO:0004593", "UMLS:C0085207", "UMLS:C4020778", "MESH:D016640", "MEDDRA:10012606", "MEDDRA:10018209", "MEDDRA:10018210", "NCIT:C34942", "SNOMEDCT:11687002", "medgen:38815", "ICD10:O24.4", "HP:0009800"], "information_content": 92.8}
{"id": "HP:0001419", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked recessive inheritance", "equivalent_identifiers": ["HP:0001419", "UMLS:C1845977"], "information_content": 82.1}
{"id": "HP:0003819", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Death in childhood", "equivalent_identifiers": ["HP:0003819", "EFO:0010162", "UMLS:C1843392"], "information_content": 100.0}
{"id": "MONDO:0000755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopic pregnancy", "equivalent_identifiers": ["MONDO:0000755", "DOID:0060329", "UMLS:C0032987", "MESH:D011271", "MEDDRA:10014166", "MEDDRA:10014169", "MEDDRA:10015765", "MEDDRA:10015865", "MEDDRA:10036559", "MEDDRA:10045857", "MEDDRA:10072039", "NCIT:C34945", "SNOMEDCT:34801009", "medgen:18618", "icd11.foundation:1563334645", "ICD10:O00", "ICD9:633", "HP:0031456"], "information_content": 85.5}
{"id": "HP:0003596", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Middle age onset", "equivalent_identifiers": ["HP:0003596", "UMLS:C1969363"], "information_content": 100.0}
{"id": "HP:0025708", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Early young adult onset", "equivalent_identifiers": ["HP:0025708", "UMLS:C5676635"], "information_content": 100.0}
{"id": "HP:0030674", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antenatal onset", "equivalent_identifiers": ["HP:0030674", "UMLS:C2673646"], "information_content": 87.2}
{"id": "UMLS:C0015927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal Death", "equivalent_identifiers": ["UMLS:C0015927", "UMLS:C0595939", "MESH:D005313", "MESH:D050497", "MEDDRA:10011908", "MEDDRA:10011909", "MEDDRA:10011911", "MEDDRA:10016479", "MEDDRA:10016484", "MEDDRA:10022747", "MEDDRA:10042062", "MEDDRA:10042063", "MEDDRA:10055690", "MEDDRA:10055691", "MEDDRA:10076683", "MEDDRA:10076696", "NCIT:C49151", "NCIT:C50620", "SNOMEDCT:237364002", "SNOMEDCT:276507005", "HP:0003826"], "information_content": 89.4}
{"id": "HP:0003678", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rapidly progressive", "equivalent_identifiers": ["HP:0003678", "UMLS:C1838681", "UMLS:C1850776"], "information_content": 100.0}
{"id": "HP:0034198", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Second trimester onset", "equivalent_identifiers": ["HP:0034198", "UMLS:C5676786"], "information_content": 100.0}
{"id": "HP:0011432", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elevated maternal circulating alpha-fetoprotein concentration", "equivalent_identifiers": ["HP:0011432", "UMLS:C4023361"], "information_content": 100.0}
{"id": "HP:0011438", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maternal teratogenic exposure", "equivalent_identifiers": ["HP:0011438", "UMLS:C4023357"], "information_content": 100.0}
{"id": "HP:0003745", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sporadic", "equivalent_identifiers": ["HP:0003745", "UMLS:C1853237"], "information_content": 100.0}
{"id": "HP:0034197", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Third trimester onset", "equivalent_identifiers": ["HP:0034197", "UMLS:C5676785"], "information_content": 100.0}
{"id": "HP:0003828", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Variable expressivity", "equivalent_identifiers": ["HP:0003828", "UMLS:C1861403", "UMLS:C1866862"], "information_content": 100.0}
{"id": "UMLS:C3279439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Recurrent spontaneous abortion", "equivalent_identifiers": ["UMLS:C3279439", "HP:0200067"], "information_content": 88.2}
{"id": "UMLS:C1855496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Contiguous gene syndrome", "equivalent_identifiers": ["UMLS:C1855496", "HP:0001466"], "information_content": 100.0}
{"id": "UMLS:C4552766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miscarriage", "equivalent_identifiers": ["UMLS:C4552766", "MEDDRA:10027649", "MEDDRA:10027650", "SNOMEDCT:17369002", "HP:0005268"], "information_content": 100.0}
{"id": "HP:0008073", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Low maternal circulating estriol concentration", "equivalent_identifiers": ["HP:0008073", "UMLS:C4024734"], "information_content": 100.0}
{"id": "HP:0100613", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Death in early adulthood", "equivalent_identifiers": ["HP:0100613", "UMLS:C4022012"], "information_content": 100.0}
{"id": "HP:0025710", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Late young adult onset", "equivalent_identifiers": ["HP:0025710", "UMLS:C5676637"], "information_content": 100.0}
{"id": "MONDO:0001754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eclampsia", "equivalent_identifiers": ["MONDO:0001754", "DOID:13593", "UMLS:C0013537", "UMLS:C0156678", "MESH:D004461", "MEDDRA:10014129", "MEDDRA:10014133", "NCIT:C87167", "SNOMEDCT:15938005", "SNOMEDCT:303063000", "medgen:4443", "icd11.foundation:1759760659", "ICD10:O15", "HP:0100601"], "information_content": 100.0}
{"id": "HP:0003831", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Typified by age-related disease onset", "equivalent_identifiers": ["HP:0003831", "UMLS:C1835978"], "information_content": 100.0}
{"id": "HP:0100610", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maternal hyperphenylalaninemia", "equivalent_identifiers": ["HP:0100610", "UMLS:C4022014"], "information_content": 100.0}
{"id": "HP:0002686", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pregnancy history", "equivalent_identifiers": ["HP:0002686", "UMLS:C0032967", "UMLS:C4531020", "SNOMEDCT:271903000"], "information_content": 73.0}
{"id": "HP:4000158", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Typified by high penetrance", "equivalent_identifiers": ["HP:4000158", "UMLS:C5826889"], "information_content": 100.0}
{"id": "HP:0003743", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genetic anticipation", "equivalent_identifiers": ["HP:0003743", "UMLS:C0600498", "MESH:D020132"], "information_content": 95.4}
{"id": "UMLS:C4023358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maternal autoimmune disease", "equivalent_identifiers": ["UMLS:C4023358", "HP:0011437"], "information_content": 95.4}
{"id": "HP:0003744", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genetic anticipation with paternal anticipation bias", "equivalent_identifiers": ["HP:0003744", "UMLS:C1834002", "UMLS:C4025574"], "information_content": 100.0}
{"id": "HP:0011421", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Death in adolescence", "equivalent_identifiers": ["HP:0011421", "UMLS:C4023368"], "information_content": 100.0}
{"id": "HP:0003680", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nonprogressive", "equivalent_identifiers": ["HP:0003680", "UMLS:C3839460", "SNOMEDCT:702322003"], "information_content": 100.0}
{"id": "UMLS:C0565599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maternal hypertension", "equivalent_identifiers": ["UMLS:C0565599", "SNOMEDCT:288250001", "HP:0008071"], "information_content": 95.4}
{"id": "HP:0008072", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maternal virilization in pregnancy", "equivalent_identifiers": ["HP:0008072", "UMLS:C4024735"], "information_content": 100.0}
{"id": "MONDO:0006791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperemesis gravidarum", "equivalent_identifiers": ["MONDO:0006791", "EFO:1000971", "UMLS:C0020450", "MESH:D006939", "MEDDRA:10015592", "MEDDRA:10015609", "MEDDRA:10020614", "NCIT:C87084", "SNOMEDCT:14094001", "medgen:43776", "HP:0012188"], "information_content": 95.4}
{"id": "HP:0032468", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "History of stillbirth", "equivalent_identifiers": ["HP:0032468", "UMLS:C0438098", "SNOMEDCT:161743003"], "information_content": 100.0}
{"id": "HP:0030244", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maternal fever in pregnancy", "equivalent_identifiers": ["HP:0030244", "UMLS:C4021041"], "information_content": 92.8}
{"id": "UMLS:C3544104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pregnancy exposure", "equivalent_identifiers": ["UMLS:C3544104", "MEDDRA:10073513", "HP:0031437"], "information_content": 95.4}
{"id": "HP:0033764", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Death in middle age", "equivalent_identifiers": ["HP:0033764", "UMLS:C5539800"], "information_content": 100.0}
{"id": "MONDO:0045048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxemia of pregnancy", "equivalent_identifiers": ["MONDO:0045048", "UMLS:C4551893", "MEDDRA:10044130", "MEDDRA:10044133", "NCIT:C34943", "medgen:1638686", "HP:0100603"], "information_content": 84.2}
{"id": "HP:0032542", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Exacerbated by pregnancy", "equivalent_identifiers": ["HP:0032542", "UMLS:C5139414"], "information_content": 100.0}
{"id": "HP:0011433", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "High maternal circulating chorionic gonadotropin concentration", "equivalent_identifiers": ["HP:0011433", "UMLS:C4021150"], "information_content": 100.0}
{"id": "UMLS:C3203523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seizure cluster", "equivalent_identifiers": ["UMLS:C3203523", "MEDDRA:10071350", "SNOMEDCT:460681000124100", "SNOMEDCT:460731000124105", "HP:0033349"], "information_content": 100.0}
{"id": "HP:0410280", "category": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pediatric onset", "equivalent_identifiers": ["HP:0410280", "UMLS:C5139446"], "information_content": 61.1}
{"id": "MONDO:0700086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uniparental disomy", "equivalent_identifiers": ["MONDO:0700086", "UMLS:C0949628", "MESH:D024182", "NCIT:C85215", "SNOMEDCT:726400003", "medgen:181871", "HP:0032382"], "information_content": 78.0}